Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Consequence Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer t_ref_count t_alt_count n_ref_count n_alt_count HGVSc HGVSp HGVSp_Short Transcript_ID RefSeq Protein_position Codons Hotspot type ref_allele context gene classification chr tum_allele1 tum_allele2 end start dataset HRNR 388697 broad.mit.edu GRCh37 1 152193357 152193357 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000368801.2:c.748N>A p.Gly250Ser p.G250S ENST00000368801 NM_001009931.2 250 Ggc/Agc 0 Missense_Mutation C 21 HRNR SNP 1 C T 150459981 150459981 Broad LHX9 56956 broad.mit.edu GRCh37 1 197887048 197887048 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000367387.4:c.95N>T p.Gly32Val p.G32V ENST00000367387 NM_020204.2 32 gGc/gTc 0 Missense_Mutation G 42 LHX9 SNP 1 G T 196153671 196153671 Broad PPP2R5A 5525 broad.mit.edu GRCh37 1 212530010 212530010 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 C A C C Unknown Valid Somatic x x 454_PCR_WGA x ENST00000261461.2:c.970N>A p.Gln324Lys p.Q324K ENST00000261461 NM_006243.3 324 Cag/Aag 0 Missense_Mutation C 29 PPP2R5A SNP 1 C A 210596633 210596633 Broad ZP4 57829 broad.mit.edu GRCh37 1 238051678 238051678 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000366570.4:c.533C>T p.Ser178Phe p.S178F ENST00000366570 NM_021186.3 178 tCc/tTc 0 Missense_Mutation G 41 ZP4 SNP 1 G A 236118301 236118301 Broad NKX2-3 159296 broad.mit.edu GRCh37 10 101292917 101292917 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000344586.7:c.29N>T p.Thr10Ile p.T10I ENST00000344586 NM_145285.2 10 aCc/aTc 0 Missense_Mutation C 18 NKX2-3 SNP 10 C T 101282907 101282907 Broad MUC5B 727897 broad.mit.edu GRCh37 11 1270876 1270876 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000529681.1:c.12766N>C p.Thr4256Pro p.T4256P ENST00000529681 NM_002458.2 4256 Aca/Cca 0 Missense_Mutation A 2 MUC5B SNP 11 A C 1227452 1227452 Broad OR51F1 256892 broad.mit.edu GRCh37 11 4790481 4790481 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000343430.3:c.667N>G p.Ile223Val p.I223V ENST00000343430 NM_001004752.1 223 Att/Gtt 0 Missense_Mutation T 52 OR51F1 SNP 11 T C 4747057 4747057 Broad OR8H3 390152 broad.mit.edu GRCh37 11 55890337 55890337 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000313472.3:c.489N>A p.Met163Ile p.M163I ENST00000313472 NM_001005201.1 163 atG/atA 0 Missense_Mutation G 45 OR8H3 SNP 11 G A 55646913 55646913 Broad OR5AK2 390181 broad.mit.edu GRCh37 11 56756787 56756787 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000326855.2:c.399N>C p.Thr133= p.T133= ENST00000326855 NM_001005323.1 133 acT/acC 0 Silent T 55 OR5AK2 SNP 11 T C 56513363 56513363 Broad ANO2 57101 broad.mit.edu GRCh37 12 5685069 5685069 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000327087.8:c.2552N>G p.Asn851Ser p.N851S ENST00000327087 NM_001278596.1 851 aAc/aGc 0 Missense_Mutation T 60 ANO2 SNP 12 T C 5555330 5555330 Broad ESYT1 23344 broad.mit.edu GRCh37 12 56532265 56532265 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000541590.1:c.2445N>A p.Glu815= p.E815= ENST00000541590 815 gaG/gaA 0 Silent G 34 ESYT1 SNP 12 G A 54818532 54818532 Broad TBC1D4 9882 broad.mit.edu GRCh37 13 75886898 75886898 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000377636.3:c.2359N>G p.Ser787Ala p.S787A ENST00000377636 NM_014832.2 787 Tct/Gct 0 Missense_Mutation A 12 TBC1D4 SNP 13 A C 74784899 74784899 Broad TRPM1 4308 broad.mit.edu GRCh37 15 31330344 31330344 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000542188.1:c.2393N>T p.Pro798Leu p.P798L ENST00000542188 NM_001252020.1 798 cCc/cTc 0 Missense_Mutation G 43 TRPM1 SNP 15 G A 29117636 29117636 Broad PLSCR3 57048 broad.mit.edu GRCh37 17 7296683 7296683 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000535512.1:c.287N>T p.Thr96Met p.T96M ENST00000535512 96 aCg/aTg 0 Missense_Mutation G 38 PLSCR3 SNP 17 G A 7237407 7237407 Broad TP53 7157 broad.mit.edu GRCh37 17 7577127 7577127 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.811G>T p.Glu271Ter p.E271* ENST00000269305 NM_001126112.2 271 Gag/Tag 0 Nonsense_Mutation C 29 TP53 SNP 17 C A 7517852 7517852 Broad ICAM1 3383 broad.mit.edu GRCh37 19 10395085 10395085 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264832.3:c.932N>T p.Pro311Leu p.P311L ENST00000264832 NM_000201.2 311 cCg/cTg 0 Missense_Mutation C 23 ICAM1 SNP 19 C T 10256085 10256085 Broad CPS1 1373 broad.mit.edu GRCh37 2 211466935 211466935 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000430249.2:c.1735N>T p.Ala579Ser p.A579S ENST00000430249 NM_001122633.2 579 Gca/Tca 0 Missense_Mutation G 46 CPS1 SNP 2 G T 211175180 211175180 Broad ISX 91464 broad.mit.edu GRCh37 22 35463246 35463246 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000308700.6:c.166N>T p.Gly56Cys p.G56C ENST00000308700 NM_001008494.1 56 Ggc/Tgc 0 Missense_Mutation G 43 ISX SNP 22 G T 33793246 33793246 Broad EP300 2033 broad.mit.edu GRCh37 22 41564512 41564512 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000263253.7:c.3934C>T p.Arg1312Ter p.R1312* ENST00000263253 NM_001429.3 1312 Cga/Tga 0 Nonsense_Mutation C 27 EP300 SNP 22 C T 39894458 39894458 Broad RAD18 56852 broad.mit.edu GRCh37 3 9005025 9005025 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000264926.2:c.45N>T p.Val15= p.V15= ENST00000264926 NM_020165.3 15 gtC/gtT 0 Silent G 45 RAD18 SNP 3 G A 8980025 8980025 Broad ADCY5 111 broad.mit.edu GRCh37 3 123166608 123166608 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000462833.1:c.785N>T p.Ala262Val p.A262V ENST00000462833 NM_183357.2 262 gCg/gTg 0 Missense_Mutation G 38 ADCY5 SNP 3 G A 124649298 124649298 Broad PCDHA4 56144 broad.mit.edu GRCh37 5 140187629 140187629 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000530339.1:c.857C>T p.Ser286Leu p.S286L ENST00000530339 NM_018907.2 286 tCg/tTg 0 Missense_Mutation C 31 PCDHA4 SNP 5 C T 140167813 140167813 Broad HIST1H1E 3008 broad.mit.edu GRCh37 6 26156790 26156790 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000304218.3:c.172N>C p.Ser58Pro p.S58P ENST00000304218 NM_005321.2 58 Tct/Cct 0 Missense_Mutation T 50 HIST1H1E SNP 6 T C 26264769 26264769 Broad CTTNBP2 83992 broad.mit.edu GRCh37 7 117432608 117432608 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000160373.3:c.642N>T p.Ser214= p.S214= ENST00000160373 NM_033427.2 214 tcC/tcT 0 Silent G 39 CTTNBP2 SNP 7 G A 117219844 117219844 Broad PEBP4 157310 broad.mit.edu GRCh37 8 22675215 22675215 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000256404.6:c.292N>A p.Asp98Asn p.D98N ENST00000256404 NM_144962.2 98 Gat/Aat 0 Missense_Mutation C 32 PEBP4 SNP 8 C T 22731160 22731160 Broad ABCA1 19 broad.mit.edu GRCh37 9 107594970 107594970 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000374736.3:c.1394N>T p.Ala465Val p.A465V ENST00000374736 NM_005502.3 465 gCg/gTg 0 Missense_Mutation G 38 ABCA1 SNP 9 G A 106634791 106634791 Broad TTC16 158248 broad.mit.edu GRCh37 9 130492926 130492926 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown x x x ENST00000373289.3:c.1864N>A p.Gly622Ser p.G622S ENST00000373289 NM_144965.1 622 Ggc/Agc 0 Missense_Mutation G 35 TTC16 SNP 9 G A 129532747 129532747 Broad SSPO 23145 broad.mit.edu GRCh37 7 149503917 149503920 + non_coding_transcript_exon_variant RNA DEL GATA GATA - novel Unknown TCGA-24-1471-01 TCGA-24-1471-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000378016.2:n.8747_8750delTAGA *2916* ENST00000378016 0 Frame_Shift_Del GATA 41 SSPO DEL 7 - GATA 149134853 149134850 Broad EFNA4 1945 broad.mit.edu GRCh37 1 155041419 155041419 + intron_variant Intron SNP T T C novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000427683.2:c.470-76N>C *157* ENST00000427683 0 Missense_Mutation T 63 EFNA4 SNP 1 T C 153308043 153308043 Broad DUSP27 92235 broad.mit.edu GRCh37 1 167095770 167095770 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000361200.2:c.1402G>A p.Ala468Thr p.A468T ENST00000361200 468 Gca/Aca 0 Missense_Mutation G 38 DUSP27 SNP 1 G A 165362394 165362394 Broad NLRP3 114548 broad.mit.edu GRCh37 1 247588162 247588162 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000336119.3:c.1417N>A p.Ala473Thr p.A473T ENST00000336119 NM_001127462.2 473 Gct/Act 0 Missense_Mutation G 42 NLRP3 SNP 1 G A 245654785 245654785 Broad UPF2 26019 broad.mit.edu GRCh37 10 12001237 12001237 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000356352.2:c.2303N>A p.Arg768His p.R768H ENST00000356352 768 cGt/cAt 0 Missense_Mutation C 19 UPF2 SNP 10 C T 12041243 12041243 Broad TET1 80312 broad.mit.edu GRCh37 10 70451227 70451227 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000373644.4:c.6067N>A p.Ala2023Thr p.A2023T ENST00000373644 NM_030625.2 2023 Gcc/Acc 0 Missense_Mutation G 46 TET1 SNP 10 G A 70121233 70121233 Broad CCAR1 55749 broad.mit.edu GRCh37 10 70547778 70547778 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000265872.6:c.2975N>T p.Ser992Phe p.S992F ENST00000265872 NM_018237.2 992 tCt/tTt 0 Missense_Mutation C 32 CCAR1 SNP 10 C T 70217784 70217784 Broad ZNF511 118472 broad.mit.edu GRCh37 10 135123388 135123388 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000361518.5:c.336N>T p.Cys112= p.C112= ENST00000361518 NM_145806.2 112 tgC/tgT 0 Silent C 25 ZNF511 SNP 10 C T 134973378 134973378 Broad SHISA2 387914 broad.mit.edu GRCh37 13 26620663 26620663 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000319420.3:c.876N>A p.Ala292= p.A292= ENST00000319420 NM_001007538.1 292 gcG/gcA 0 Silent C 23 SHISA2 SNP 13 C T 25518663 25518663 Broad CGNL1 84952 broad.mit.edu GRCh37 15 57730517 57730517 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000281282.5:c.320N>T p.Pro107Leu p.P107L ENST00000281282 NM_032866.4 107 cCa/cTa 0 Missense_Mutation C 21 CGNL1 SNP 15 C T 55517809 55517809 Broad MCTP2 55784 broad.mit.edu GRCh37 15 94910908 94910908 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000357742.4:c.1376N>T p.Gly459Val p.G459V ENST00000357742 NM_018349.3 459 gGg/gTg 0 Missense_Mutation G 43 MCTP2 SNP 15 G T 92711912 92711912 Broad DCUN1D3 123879 broad.mit.edu GRCh37 16 20871268 20871268 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000324344.4:c.855N>A p.Gly285= p.G285= ENST00000324344 NM_173475.2 285 ggG/ggA 0 Silent C 22 DCUN1D3 SNP 16 C T 20778769 20778769 Broad NLRC5 84166 broad.mit.edu GRCh37 16 57070075 57070075 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000262510.6:c.2691N>A p.Leu897= p.L897= ENST00000262510 NM_032206.4 897 ctG/ctA 0 Silent G 46 NLRC5 SNP 16 G A 55627576 55627576 Broad TUBB3 10381 broad.mit.edu GRCh37 16 90001762 90001762 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000315491.7:c.903C>T p.Ala301= p.A301= ENST00000315491 NM_006086.3 301 gcC/gcT 0 Silent C 23 TUBB3 SNP 16 C T 88529263 88529263 Broad ITGAE 3682 broad.mit.edu GRCh37 17 3651261 3651261 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000263087.4:c.2110C>T p.Arg704Cys p.R704C ENST00000263087 NM_002208.4 704 Cgt/Tgt 0 Missense_Mutation G 39 ITGAE SNP 17 G A 3598010 3598010 Broad TP53 7157 broad.mit.edu GRCh37 17 7576897 7576897 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000269305.4:c.949C>T p.Gln317Ter p.Q317* ENST00000269305 NM_001126112.2 317 Cag/Tag 0 Nonsense_Mutation G 47 TP53 SNP 17 G A 7517622 7517622 Broad DHX8 1659 broad.mit.edu GRCh37 17 41570102 41570102 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000262415.3:c.557N>A p.Arg186Gln p.R186Q ENST00000262415 NM_004941.1 186 cGa/cAa 0 Missense_Mutation G 37 DHX8 SNP 17 G A 38925628 38925628 Broad CBX8 57332 broad.mit.edu GRCh37 17 77768808 77768808 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000269385.4:c.796N>T p.Pro266Ser p.P266S ENST00000269385 NM_020649.2 266 Cct/Tct 0 Missense_Mutation G 43 CBX8 SNP 17 G A 75383403 75383403 Broad MEP1B 4225 broad.mit.edu GRCh37 18 29787335 29787335 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000269202.6:c.668N>T p.Thr223Ile p.T223I ENST00000269202 NM_005925.2 223 aCa/aTa 0 Missense_Mutation C 17 MEP1B SNP 18 C T 28041333 28041333 Broad C19orf47 126526 broad.mit.edu GRCh37 19 40834416 40834416 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000582783.1:c.454N>T p.Pro152Ser p.P152S ENST00000582783 NM_001256440.1 152 Cca/Tca 0 Missense_Mutation G 41 C19orf47 SNP 19 G A 45526256 45526256 Broad ZNF331 55422 broad.mit.edu GRCh37 19 54080392 54080392 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000253144.9:c.578N>A p.Gly193Glu p.G193E ENST00000253144 NM_018555.5 193 gGg/gAg 0 Missense_Mutation G 43 ZNF331 SNP 19 G A 58772204 58772204 Broad EGR4 1961 broad.mit.edu GRCh37 2 73519430 73519430 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000545030.1:c.925N>A p.Ala309Thr p.A309T ENST00000545030 NM_001965.3 309 Gcg/Acg 0 Missense_Mutation C 27 EGR4 SNP 2 C T 73372938 73372938 Broad SLC4A5 57835 broad.mit.edu GRCh37 2 74459626 74459626 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000377634.4:c.2744N>T p.Pro915Leu p.P915L ENST00000377634 915 cCt/cTt 0 Missense_Mutation G 35 SLC4A5 SNP 2 G A 74313134 74313134 Broad SCN2A 6326 broad.mit.edu GRCh37 2 166198844 166198844 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000357398.3:c.2427N>T p.Lys809Asn p.K809N ENST00000357398 809 aaG/aaT 0 Missense_Mutation G 33 SCN2A SNP 2 G T 165907090 165907090 Broad FAM171B 165215 broad.mit.edu GRCh37 2 187615987 187615987 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000304698.5:c.851N>C p.Ser284Thr p.S284T ENST00000304698 NM_177454.3 284 aGt/aCt 0 Missense_Mutation G 36 FAM171B SNP 2 G C 187324232 187324232 Broad PLTP 5360 broad.mit.edu GRCh37 20 44538259 44538259 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000477313.1:c.381N>G p.Thr127= p.T127= ENST00000477313 127 acT/acG 0 Silent A 7 PLTP SNP 20 A C 43971666 43971666 Broad CD40 958 broad.mit.edu GRCh37 20 44751328 44751328 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000372285.3:c.336N>A p.Thr112= p.T112= ENST00000372285 NM_001250.4 112 acG/acA 0 Silent G 37 CD40 SNP 20 G A 44184735 44184735 Broad SON 6651 broad.mit.edu GRCh37 21 34925258 34925258 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000356577.4:c.3721N>A p.Val1241Ile p.V1241I ENST00000356577 NM_138927.2 1241 Gta/Ata 0 Missense_Mutation G 36 SON SNP 21 G A 33847128 33847128 Broad BAP1 8314 broad.mit.edu GRCh37 3 52440373 52440373 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000460680.1:c.679N>T p.Arg227Cys p.R227C ENST00000460680 NM_004656.3 227 Cgc/Tgc 0 Missense_Mutation G 39 BAP1 SNP 3 G A 52415413 52415413 Broad CRIPAK 285464 broad.mit.edu GRCh37 4 1389118 1389118 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000324803.4:c.819N>A p.Thr273= p.T273= ENST00000324803 NM_175918.3 273 acG/acA 0 Silent G 40 CRIPAK SNP 4 G A 1379118 1379118 Broad THAP9 79725 broad.mit.edu GRCh37 4 83838349 83838349 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000302236.5:c.984N>C p.Gly328= p.G328= ENST00000302236 NM_024672.4 328 ggT/ggC 0 Silent T 57 THAP9 SNP 4 T C 84057373 84057373 Broad PLA2G12A 81579 broad.mit.edu GRCh37 4 110639873 110639873 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000243501.5:c.251N>T p.Pro84Leu p.P84L ENST00000243501 NM_030821.4 84 cCg/cTg 0 Missense_Mutation G 39 PLA2G12A SNP 4 G A 110859322 110859322 Broad MAB21L2 10586 broad.mit.edu GRCh37 4 151504974 151504974 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000317605.4:c.793N>A p.Pro265Thr p.P265T ENST00000317605 NM_006439.4 265 Ccc/Acc 0 Missense_Mutation C 18 MAB21L2 SNP 4 C A 151724424 151724424 Broad KIF2A 3796 broad.mit.edu GRCh37 5 61668334 61668334 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000407818.3:c.1716N>T p.Leu572= p.L572= ENST00000407818 NM_001098511.2 572 ctC/ctT 0 Silent C 32 KIF2A SNP 5 C T 61704091 61704091 Broad PCDHA13 56136 broad.mit.edu GRCh37 5 140262567 140262567 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000289272.2:c.714C>T p.Asn238= p.N238= ENST00000289272 NM_018904.2 238 aaC/aaT 0 Silent C 19 PCDHA13 SNP 5 C T 140242751 140242751 Broad HIST1H2BD 3017 broad.mit.edu GRCh37 6 26158462 26158462 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000289316.2:c.65N>G p.Ala22Gly p.A22G ENST00000289316 NM_138720.2 22 gCt/gGt 0 Missense_Mutation C 28 HIST1H2BD SNP 6 C G 26266441 26266441 Broad ZFP57 346171 broad.mit.edu GRCh37 6 29641002 29641002 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000488757.1:c.886N>C p.Arg296= p.R296= ENST00000488757 NM_001109809.2 296 Agg/Cgg 0 Silent T 54 ZFP57 SNP 6 T G 29748981 29748981 Broad MAPK14 1432 broad.mit.edu GRCh37 6 35995964 35995964 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000229795.3:c.30N>C p.Arg10= p.R10= ENST00000229795 NM_001315.2 10 cgG/cgC 0 Silent G 42 MAPK14 SNP 6 G C 36103942 36103942 Broad OPRM1 4988 broad.mit.edu GRCh37 6 154411138 154411138 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000434900.2:c.747N>T p.Ser249= p.S249= ENST00000434900 NM_001145279.2 249 agC/agT 0 Silent C 25 OPRM1 SNP 6 C T 154452831 154452831 Broad TNS3 64759 broad.mit.edu GRCh37 7 47451348 47451348 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000398879.1:c.700N>T p.Gln234Ter p.Q234* ENST00000398879 234 Cag/Tag 0 Nonsense_Mutation G 47 TNS3 SNP 7 G A 47417873 47417873 Broad AKAP9 10142 broad.mit.edu GRCh37 7 91709382 91709382 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000356239.3:c.7935N>T p.Glu2645Asp p.E2645D ENST00000356239 NM_147185.2 2645 gaA/gaT 0 Missense_Mutation A 2 AKAP9 SNP 7 A T 91547318 91547318 Broad ORAI2 80228 broad.mit.edu GRCh37 7 102079522 102079522 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000356387.2:c.119N>T p.Ser40Phe p.S40F ENST00000356387 NM_001271818.1 40 tCt/tTt 0 Missense_Mutation C 32 ORAI2 SNP 7 C T 101866527 101866527 Broad SNTG1 54212 broad.mit.edu GRCh37 8 51449297 51449297 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000522124.1:c.609N>A p.Trp203Ter p.W203* ENST00000522124 NM_018967.2 203 tgG/tgA 0 Nonsense_Mutation G 44 SNTG1 SNP 8 G A 51611850 51611850 Broad ZNF7 7553 broad.mit.edu GRCh37 8 146068062 146068062 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000528372.1:c.1570N>T p.Pro524Ser p.P524S ENST00000528372 524 Ccc/Tcc 0 Missense_Mutation C 26 ZNF7 SNP 8 C T 146038866 146038866 Broad ACRC 93953 broad.mit.edu GRCh37 X 70823893 70823893 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0899-01 TCGA-13-0899-10 Unknown Unknown Unknown x x x ENST00000373695.1:c.766G>A p.Asp256Asn p.D256N ENST00000373695 256 Gac/Aac 0 Missense_Mutation G 37 ACRC SNP 23 G A 70740618 70740618 Broad IRF4 3662 genome.wustl.edu GRCh37 6 405067 405067 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380956.4:c.1149N>A p.Val383= p.V383= ENST00000380956 NM_001195286.1 383 gtG/gtA 0 Silent G 45 IRF4 SNP 6 A A 350067 350067 WashU PCED1A 64773 genome.wustl.edu GRCh37 20 2819116 2819116 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000360652.2:c.603N>T p.Pro201= p.P201= ENST00000360652 NM_022760.4 201 ccC/ccT 0 Silent G 43 FAM113A SNP 20 G A 2767116 2767116 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578454 7578454 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.476C>T p.Ala159Val p.A159V ENST00000269305 NM_001126112.2 159 gCc/gTc 0 Missense_Mutation G 42 TP53 SNP 17 G A 7519179 7519179 WashU SLC2A3 6515 genome.wustl.edu GRCh37 12 8086490 8086490 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000075120.7:c.24N>G p.Pro8= p.P8= ENST00000075120 NM_006931.2 8 ccA/ccG 0 Silent T 55 SLC2A3 SNP 12 T C 7977757 7977757 WashU PKN1 5585 genome.wustl.edu GRCh37 19 14580797 14580797 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342216.4:c.2308N>A p.Glu770Lys p.E770K ENST00000342216 NM_213560.1 770 Gag/Aag 0 Missense_Mutation G 41 PKN1 SNP 19 G A 14441797 14441797 WashU NMT2 9397 genome.wustl.edu GRCh37 10 15161468 15161468 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378165.4:c.1044N>G p.Ile348Met p.I348M ENST00000378165 NM_004808.2 348 atC/atG 0 Missense_Mutation G 45 NMT2 SNP 10 G C 15201474 15201474 WashU MACROD2 140733 genome.wustl.edu GRCh37 20 15843439 15843439 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000217246.4:c.695N>C p.Tyr232Ser p.Y232S ENST00000217246 NM_080676.5 232 tAc/tCc 0 Missense_Mutation A 14 MACROD2 SNP 20 A C 15791439 15791439 WashU MYO9B 4650 genome.wustl.edu GRCh37 19 17283721 17283721 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000595618.1:c.2089N>C p.Val697Leu p.V697L ENST00000595618 NM_001130065.1 697 Gtg/Ctg 0 Missense_Mutation G 36 MYO9B SNP 19 G C 17144721 17144721 WashU CLTCL1 8218 genome.wustl.edu GRCh37 22 19175514 19175514 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263200.10:c.4413N>T p.Leu1471= p.L1471= ENST00000263200 NM_007098.3 1471 ctG/ctT 0 Nonstop_Mutation C 29 CLTCL1 SNP 22 A A 17555514 17555514 WashU MTUS1 57509 genome.wustl.edu GRCh37 8 17612588 17612588 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262102.6:c.729N>T p.Tyr243= p.Y243= ENST00000262102 NM_001001924.2 243 taC/taT 0 Silent G 48 MTUS1 SNP 8 A A 17656868 17656868 WashU OR11H12 440153 genome.wustl.edu GRCh37 14 19377700 19377700 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000550708.1:c.107N>A p.Trp36Ter p.W36* ENST00000550708 NM_001013354.1 36 tGg/tAg 0 Nonsense_Mutation G 47 OR11H12 SNP 14 G A 18447700 18447700 WashU GMIP 51291 genome.wustl.edu GRCh37 19 19745667 19745667 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000203556.4:c.1821N>A p.Ala607= p.A607= ENST00000203556 NM_016573.2 607 gcG/gcA 0 Silent C 19 GMIP SNP 19 C T 19606667 19606667 WashU LAMA3 3909 genome.wustl.edu GRCh37 18 21487772 21487772 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313654.9:c.6888N>A p.Asn2296Lys p.N2296K ENST00000313654 NM_198129.1 2296 aaC/aaA 0 Missense_Mutation C 19 LAMA3 SNP 18 C A 19741770 19741770 WashU IGLV3-12 28802 genome.wustl.edu GRCh37 22 23114931 23114931 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390313.2:c.203N>A p.Ser68Asn p.S68N ENST00000390313 68 aGc/aAc 0 Missense_Mutation G 34 IGLV3-12 SNP 22 A A 21444931 21444931 WashU MYO18A 399687 genome.wustl.edu GRCh37 17 27448204 27448204 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000527372.1:c.1397N>A p.Arg466Gln p.R466Q ENST00000527372 NM_078471.3 466 cGg/cAg 0 Missense_Mutation C 23 MYO18A SNP 17 T T 24472330 24472330 WashU ARHGAP21 57584 genome.wustl.edu GRCh37 10 24874562 24874562 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396432.2:c.4656N>A p.Thr1552= p.T1552= ENST00000396432 NM_020824.3 1552 acG/acA 0 Silent C 19 ARHGAP21 SNP 10 C T 24914568 24914568 WashU LRRC37B 114659 genome.wustl.edu GRCh37 17 30376236 30376236 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341671.7:c.2499N>G p.Thr833= p.T833= ENST00000341671 NM_052888.2 833 acA/acG 0 Silent A 6 LRRC37B SNP 17 A G 27400349 27400349 WashU HIST1H4L 8368 genome.wustl.edu GRCh37 6 27841216 27841216 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355981.2:c.73N>A p.Asp25Asn p.D25N ENST00000355981 NM_003546.2 25 Gac/Aac 0 Missense_Mutation C 31 HIST1H4L SNP 6 C T 27949195 27949195 WashU FOSL2 2355 genome.wustl.edu GRCh37 2 28631719 28631719 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264716.4:c.448N>A p.Glu150Lys p.E150K ENST00000264716 NM_005253.3 150 Gag/Aag 0 Missense_Mutation G 33 FOSL2 SNP 2 G A 28485223 28485223 WashU NOL4 8715 genome.wustl.edu GRCh37 18 31803086 31803086 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261592.5:c.132N>T p.Glu44Asp p.E44D ENST00000261592 NM_001198546.1 44 gaG/gaT 0 Missense_Mutation C 20 NOL4 SNP 18 A A 30057084 30057084 WashU LHX1 3975 genome.wustl.edu GRCh37 17 35297671 35297671 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000254457.5:c.255N>T p.His85= p.H85= ENST00000254457 NM_005568.3 85 caC/caT 0 Silent C 18 LHX1 SNP 17 T T 32371784 32371784 WashU KCNE1 3753 genome.wustl.edu GRCh37 21 35821549 35821549 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337385.3:c.384N>A p.Ser128= p.S128= ENST00000337385 NM_001270403.1 128 tcC/tcA 0 Silent G 43 KCNE1 SNP 21 G T 34743419 34743419 WashU CYTH4 27128 genome.wustl.edu GRCh37 22 37695333 37695333 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000248901.6:c.420N>T p.Leu140= p.L140= ENST00000248901 NM_013385.3 140 ctC/ctT 0 Silent C 31 CYTH4 SNP 22 T T 36025279 36025279 WashU STK38 11329 genome.wustl.edu GRCh37 6 36466221 36466221 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000229812.7:c.995N>C p.Lys332Thr p.K332T ENST00000229812 NM_007271.2 332 aAg/aCg 0 Missense_Mutation T 56 STK38 SNP 6 T G 36574199 36574199 WashU CLIP3 25999 genome.wustl.edu GRCh37 19 36508804 36508804 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360535.4:c.1273N>A p.Ala425Thr p.A425T ENST00000360535 NM_015526.2 425 Gcg/Acg 0 Missense_Mutation C 27 CLIP3 SNP 19 C T 41200644 41200644 WashU BMS1 9790 genome.wustl.edu GRCh37 10 43289414 43289414 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374518.5:c.1204N>T p.Gly402Trp p.G402W ENST00000374518 NM_014753.3 402 Ggg/Tgg 0 Missense_Mutation G 47 BMS1 SNP 10 G T 42609420 42609420 WashU HYI 81888 genome.wustl.edu GRCh37 1 43917621 43917621 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372425.4:c.490N>A p.Asp164Asn p.D164N ENST00000372425 164 Gac/Aac 0 Missense_Mutation C 30 HYI SNP 1 C T 43690208 43690208 WashU RYR1 6261 genome.wustl.edu GRCh37 19 39075642 39075642 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359596.3:c.14706C>T p.Ile4902= p.I4902= ENST00000359596 4902 atC/atT 0 Silent C 31 RYR1 SNP 19 T T 43767482 43767482 WashU C21orf2 755 genome.wustl.edu GRCh37 21 45751842 45751842 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C T C T Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397956.3:c.429N>A p.Ala143= p.A143= ENST00000397956 NM_001271441.1 143 gcG/gcA 0 Silent C 23 C21orf2 SNP 21 C T 44576270 44576270 WashU HTR2A 3356 genome.wustl.edu GRCh37 13 47409196 47409196 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378688.4:c.1192N>G p.Gln398Glu p.Q398E ENST00000378688 398 Cag/Gag 0 Missense_Mutation G 45 HTR2A SNP 13 C C 46307197 46307197 WashU SLC9A7 84679 genome.wustl.edu GRCh37 X 46521558 46521558 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328306.4:c.934N>C p.Thr312Pro p.T312P ENST00000328306 NM_001257291.1 312 Act/Cct 0 Missense_Mutation T 59 SLC9A7 SNP 23 T G 46406502 46406502 WashU FAIM2 23017 genome.wustl.edu GRCh37 12 50282968 50282968 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000320634.3:c.669N>T p.Cys223= p.C223= ENST00000320634 NM_012306.3 223 tgC/tgT 0 Silent G 42 FAIM2 SNP 12 G A 48569235 48569235 WashU SMARCD1 6602 genome.wustl.edu GRCh37 12 50492572 50492572 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394963.4:c.1468N>A p.Ala490Thr p.A490T ENST00000394963 NM_003076.4 490 Gct/Act 0 Missense_Mutation G 42 SMARCD1 SNP 12 G A 48778839 48778839 WashU USP19 10869 genome.wustl.edu GRCh37 3 49148453 49148453 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000434032.2:c.3469N>A p.Gly1157Ser p.G1157S ENST00000434032 NM_001199160.1 1157 Ggc/Agc 0 Missense_Mutation C 23 USP19 SNP 3 T T 49123457 49123457 WashU CLCN5 1184 genome.wustl.edu GRCh37 X 49850698 49850698 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376088.3:c.995N>A p.Val332Glu p.V332E ENST00000376088 NM_001127899.2 332 gTa/gAa 0 Missense_Mutation T 57 CLCN5 SNP 23 T A 49737438 49737438 WashU AGAP7 653268 genome.wustl.edu GRCh37 10 51464832 51464832 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000374095.5:c.1624C>T p.Arg542Trp p.R542W ENST00000374095 NM_001077685.2 542 Cgg/Tgg 0 Missense_Mutation G 40 AGAP7 SNP 10 G A 51134838 51134838 WashU DHX34 9704 genome.wustl.edu GRCh37 19 47861378 47861378 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328771.4:c.1272+1N>C p.X424_splice ENST00000328771 NM_014681.5 0 Splice_Site_SNP G 44 DHX34 SNP 19 G C 52553216 52553216 WashU TRPM4 54795 genome.wustl.edu GRCh37 19 49692251 49692251 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000252826.5:c.1922N>C p.Leu641Pro p.L641P ENST00000252826 NM_017636.3 641 cTc/cCc 0 Missense_Mutation T 54 TRPM4 SNP 19 T C 54384063 54384063 WashU DGKA 1606 genome.wustl.edu GRCh37 12 56334146 56334146 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331886.5:c.847N>T p.Asp283Tyr p.D283Y ENST00000331886 NM_001345.4 283 Gac/Tac 0 Missense_Mutation G 37 DGKA SNP 12 G T 54620413 54620413 WashU OR8U1 219417 genome.wustl.edu GRCh37 11 56143230 56143230 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302270.1:c.131N>A p.Gly44Asp p.G44D ENST00000302270 NM_001005204.1 44 gGt/gAt 0 Missense_Mutation G 44 OR8U1 SNP 11 G A 55899806 55899806 WashU ZNF479 90827 genome.wustl.edu GRCh37 7 57188088 57188088 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000331162.4:c.1034N>C p.Arg345Thr p.R345T ENST00000331162 NM_033273.1 345 aGa/aCa 0 Missense_Mutation C 32 ZNF479 SNP 7 C G 57192030 57192030 WashU CEP95 90799 genome.wustl.edu GRCh37 17 62523310 62523310 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000556440.2:c.1234N>C p.Asp412His p.D412H ENST00000556440 NM_138363.1 412 Gat/Cat 0 Missense_Mutation G 41 CCDC45 SNP 17 C C 59953772 59953772 WashU NLRP13 126204 genome.wustl.edu GRCh37 19 56423125 56423125 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342929.3:c.2058N>A p.Lys686= p.K686= ENST00000342929 NM_176810.2 686 aaG/aaA 0 Silent C 28 NLRP13 SNP 19 T T 61114937 61114937 WashU CDH7 1005 genome.wustl.edu GRCh37 18 63547997 63547997 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397968.2:c.2225N>T p.Ala742Val p.A742V ENST00000397968 NM_004361.2 742 gCt/gTt 0 Missense_Mutation C 28 CDH7 SNP 18 T T 61698977 61698977 WashU SLC22A8 9376 genome.wustl.edu GRCh37 11 62767255 62767255 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336232.2:c.497N>C p.Gly166Ala p.G166A ENST00000336232 NM_001184736.1 166 gGt/gCt 0 Missense_Mutation C 18 SLC22A8 SNP 11 C G 62523831 62523831 WashU SIPA1L1 26037 genome.wustl.edu GRCh37 14 72055680 72055680 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000555818.1:c.1091N>G p.Ser364Cys p.S364C ENST00000555818 NM_015556.1 364 tCc/tGc 0 Missense_Mutation C 30 SIPA1L1 SNP 14 C G 71125433 71125433 WashU DCK 1633 genome.wustl.edu GRCh37 4 71888090 71888090 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286648.5:c.214N>G p.Thr72Ala p.T72A ENST00000286648 NM_000788.2 72 Aca/Gca 0 Missense_Mutation A 14 DCK SNP 4 A G 72106954 72106954 WashU RP11-399N22.3 genome.wustl.edu GRCh37 10 72554206 72554206 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000435209.1:n.74N>A *25* ENST00000435209 0 Missense_Mutation C 17 LOC338611 SNP 10 C T 72224212 72224212 WashU ZCCHC6 79670 genome.wustl.edu GRCh37 9 88937965 88937965 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375963.3:c.2700N>A p.Gly900= p.G900= ENST00000375963 NM_001185059.1 900 ggC/ggA 0 Silent G 38 ZCCHC6 SNP 9 G T 88127785 88127785 WashU FAT3 120114 genome.wustl.edu GRCh37 11 92568103 92568103 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298047.6:c.9939N>A p.Ala3313= p.A3313= ENST00000298047 3313 gcC/gcA 0 Silent C 21 FAT3 SNP 11 C A 92207751 92207751 WashU TMEM67 91147 genome.wustl.edu GRCh37 8 94768048 94768048 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000453321.3:c.266N>G p.Asn89Ser p.N89S ENST00000453321 NM_153704.5 89 aAt/aGt 0 Missense_Mutation A 4 TMEM67 SNP 8 G G 94837224 94837224 WashU DZIP1 22873 genome.wustl.edu GRCh37 13 96277050 96277050 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000347108.3:c.944N>A p.Leu315Ter p.L315* ENST00000347108 315 tTa/tAa 0 Nonsense_Mutation A 13 DZIP1 SNP 13 A T 95075051 95075051 WashU LINS 55180 genome.wustl.edu GRCh37 15 101121005 101121005 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314742.8:c.43N>T p.Val15Leu p.V15L ENST00000314742 NM_001040616.2 15 Gta/Tta 0 Missense_Mutation C 18 LINS1 SNP 15 C A 98938528 98938528 WashU TSTD2 158427 genome.wustl.edu GRCh37 9 100368460 100368460 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341170.4:c.919C>A p.Leu307Ile p.L307I ENST00000341170 NM_139246.4 307 Ctt/Att 0 Missense_Mutation G 35 TSTD2 SNP 9 T T 99408281 99408281 WashU SENP7 57337 genome.wustl.edu GRCh37 3 101080585 101080585 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394095.2:c.1597N>T p.Lys533Ter p.K533* ENST00000394095 NM_020654.3 533 Aaa/Taa 0 Nonsense_Mutation T 64 SENP7 SNP 3 T A 102563275 102563275 WashU LAMB1 3912 genome.wustl.edu GRCh37 7 107572701 107572701 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000222399.6:c.4310N>T p.Ala1437Val p.A1437V ENST00000222399 NM_002291.2 1437 gCa/gTa 0 Missense_Mutation G 46 LAMB1 SNP 7 G A 107359937 107359937 WashU IRS4 8471 genome.wustl.edu GRCh37 X 107977213 107977213 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372129.2:c.2362G>A p.Ala788Thr p.A788T ENST00000372129 NM_003604.2 788 Gca/Aca 0 Missense_Mutation C 25 IRS4 SNP 23 C T 107863869 107863869 WashU FAM184A 79632 genome.wustl.edu GRCh37 6 119324733 119324733 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338891.7:c.1870N>C p.Glu624Gln p.E624Q ENST00000338891 NM_024581.4 624 Gaa/Caa 0 Missense_Mutation C 32 FAM184A SNP 6 G G 119366432 119366432 WashU TMEM39A 55254 genome.wustl.edu GRCh37 3 119180831 119180831 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319172.5:c.91N>T p.Asn31Tyr p.N31Y ENST00000319172 NM_018266.2 31 Aat/Tat 0 Missense_Mutation T 63 TMEM39A SNP 3 T A 120663521 120663521 WashU SORL1 6653 genome.wustl.edu GRCh37 11 121421296 121421296 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260197.7:c.2183N>G p.Tyr728Cys p.Y728C ENST00000260197 NM_003105.5 728 tAc/tGc 0 Missense_Mutation A 14 SORL1 SNP 11 A G 120926506 120926506 WashU SLC12A8 84561 genome.wustl.edu GRCh37 3 124896804 124896804 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393469.4:c.405N>A p.Ala135= p.A135= ENST00000393469 NM_001195483.1 135 gcC/gcA 0 Silent G 47 SLC12A8 SNP 3 G T 126379494 126379494 WashU HSPA4L 22824 genome.wustl.edu GRCh37 4 128715245 128715245 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296464.4:c.121N>C p.Leu41= p.L41= ENST00000296464 NM_014278.2 41 Ttg/Ctg 0 Silent T 52 HSPA4L SNP 4 C C 128934695 128934695 WashU ZNF449 203523 genome.wustl.edu GRCh37 X 134493888 134493888 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339249.4:c.631C>A p.Gln211Lys p.Q211K ENST00000339249 NM_152695.5 211 Cag/Aag 0 Missense_Mutation C 17 ZNF449 SNP 23 C A 134321554 134321554 WashU KEL 3792 genome.wustl.edu GRCh37 7 142641429 142641429 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355265.2:c.1472N>T p.Ala491Val p.A491V ENST00000355265 NM_000420.2 491 gCc/gTc 0 Missense_Mutation G 42 KEL SNP 7 G A 142351551 142351551 WashU RASA2 5922 genome.wustl.edu GRCh37 3 141248601 141248601 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286364.3:c.407N>G p.Thr136Ser p.T136S ENST00000286364 136 aCt/aGt 0 Missense_Mutation C 20 RASA2 SNP 3 C G 142731291 142731291 WashU AOC1 26 genome.wustl.edu GRCh37 7 150554202 150554202 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000493429.1:c.644N>A p.Thr215Asn p.T215N ENST00000493429 215 aCt/aAt 0 Missense_Mutation C 20 ABP1 SNP 7 C A 150185135 150185135 WashU RIF1 55183 genome.wustl.edu GRCh37 2 152320193 152320193 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000243326.5:c.4159N>G p.Asn1387Asp p.N1387D ENST00000243326 1387 Aat/Gat 0 Missense_Mutation A 9 RIF1 SNP 2 A G 152028439 152028439 WashU SLC50A1 55974 genome.wustl.edu GRCh37 1 155110534 155110534 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368404.4:c.524N>A p.Trp175Ter p.W175* ENST00000368404 NM_018845.3 175 tGg/tAg 0 Nonsense_Mutation G 47 RAG1AP1 SNP 1 G A 153377158 153377158 WashU OR10J1 26476 genome.wustl.edu GRCh37 1 159336215 159336215 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000504659.1:n.265N>G *89* ENST00000504659 0 Missense_Mutation A 11 OR10J1 SNP 1 A G 157602839 157602839 WashU LCP2 3937 genome.wustl.edu GRCh37 5 169680190 169680190 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000046794.5:c.1178N>A p.Ala393Asp p.A393D ENST00000046794 NM_005565.3 393 gCc/gAc 0 Missense_Mutation G 42 LCP2 SNP 5 T T 169612768 169612768 WashU ARL10 285598 genome.wustl.edu GRCh37 5 175798811 175798811 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310389.5:c.648N>C p.Leu216Phe p.L216F ENST00000310389 NM_173664.4 216 ttG/ttC 0 Missense_Mutation G 47 ARL10 SNP 5 C C 175731417 175731417 WashU ZFP2 80108 genome.wustl.edu GRCh37 5 178358884 178358884 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361362.2:c.570N>C p.Glu190Asp p.E190D ENST00000361362 NM_030613.2 190 gaG/gaC 0 Missense_Mutation G 36 ZFP2 SNP 5 G C 178291490 178291490 WashU TTN 7273 genome.wustl.edu GRCh37 2 179454988 179454988 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.61464N>T p.Val20488= p.V20488= ENST00000589042 NM_001267550.1 20488 gtG/gtT 0 Nonstop_Mutation C 29 TTN SNP 2 C A 179163234 179163234 WashU STAT4 6775 genome.wustl.edu GRCh37 2 191922749 191922749 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392320.2:c.1201N>T p.His401Tyr p.H401Y ENST00000392320 NM_003151.3 401 Cat/Tat 0 Missense_Mutation G 48 STAT4 SNP 2 G A 191630994 191630994 WashU LRRC15 131578 genome.wustl.edu GRCh37 3 194081480 194081480 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000439944.2:c.311N>A p.Arg104Gln p.R104Q ENST00000439944 NM_001135057.2 104 cGa/cAa 0 Missense_Mutation C 31 LRRC15 SNP 3 C T 195562775 195562775 WashU ZDBF2 57683 genome.wustl.edu GRCh37 2 207171914 207171914 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374423.3:c.2662N>A p.Glu888Lys p.E888K ENST00000374423 NM_020923.1 888 Gaa/Aaa 0 Missense_Mutation G 37 ZDBF2 SNP 2 G A 206880159 206880159 WashU PIKFYVE 200576 genome.wustl.edu GRCh37 2 209190291 209190291 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264380.4:c.2756N>A p.Pro919His p.P919H ENST00000264380 NM_015040.3 919 cCt/cAt 0 Missense_Mutation C 24 PIKFYVE SNP 2 C A 208898536 208898536 WashU USH2A 7399 genome.wustl.edu GRCh37 1 216591942 216591942 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307340.3:c.565N>T p.Arg189Cys p.R189C ENST00000307340 NM_206933.2 189 Cgc/Tgc 0 Missense_Mutation G 37 USH2A SNP 1 G A 214658565 214658565 WashU TUBA4B 80086 genome.wustl.edu GRCh37 2 220136260 220136260 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000490341.1:n.730N>A *244* ENST00000490341 0 Missense_Mutation G 48 TUBA4B SNP 2 G A 219844504 219844504 WashU UGT1A9 54600 genome.wustl.edu GRCh37 2 234581112 234581112 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354728.4:c.532N>A p.Glu178Lys p.E178K ENST00000354728 178 Gaa/Aaa 0 Missense_Mutation G 45 UGT1A9 SNP 2 G A 234245851 234245851 WashU REXO1L8P genome.wustl.edu GRCh37 8 86556143 86556144 + non_coding_transcript_exon_variant,non_coding_transcript_variant RNA INS - - TCAAAC novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000604378.1:n.553_558dupGTTTGA *185* ENST00000604378 0 In_Frame_Ins - 56 LOC392242 INS 8 - TCAAAC 86743396 86743395 WashU FAM129A 116496 genome.wustl.edu GRCh37 1 184764715 184764716 + missense_variant Missense_Mutation DNP GG GG CT novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367511.3:c.2182_2183delNNinsAG p.Pro728Arg p.P728R ENST00000367511 NM_052966.3 728 CCa/AGa 0 Missense GG 47 FAM129A DNP 1 GG CT 183031339 183031338 WashU GATA3 2625 genome.wustl.edu GRCh37 10 8100551 8100551 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000346208.3:c.525N>A p.Ser175= p.S175= ENST00000346208 175 tcG/tcA 0 Silent G 39 GATA3 SNP 10 G A 8140557 8140557 WashU BRF1 2972 genome.wustl.edu GRCh37 14 105684006 105684006 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000546474.1:c.1647N>A p.Ala549= p.A549= ENST00000546474 NM_001519.3 549 gcC/gcA 0 Silent G 39 BRF1 SNP 14 G T 104755051 104755051 WashU PHLPP2 23035 genome.wustl.edu GRCh37 16 71736603 71736604 + missense_variant Missense_Mutation DNP TC TC AA novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000568954.1:c.315_316delNNinsTT p.Gln105_Ile106delinsHisPhe p.Q105_I106delinsHF ENST00000568954 105 caGAtc/caTTtc 0 Missense TC 50 PHLPP2 DNP 16 AA AA 70294105 70294104 WashU CXXC1 30827 genome.wustl.edu GRCh37 18 47811704 47811704 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000412036.2:c.657N>G p.Phe219Leu p.F219L ENST00000412036 219 ttC/ttG 0 Missense_Mutation G 41 CXXC1 SNP 18 G C 46065702 46065702 WashU RWDD1 51389 genome.wustl.edu GRCh37 6 116914220 116914221 + missense_variant Missense_Mutation DNP CC CC AA novel Unknown TCGA-23-1021-01 TCGA-23-1021-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000466444.2:c.688_689delNNinsAA p.Pro230Lys p.P230K ENST00000466444 NM_015952.2 230 CCa/AAa 0 Missense CC 30 RWDD1 DNP 6 AA AA 117020914 117020913 WashU ASH1L 55870 genome.wustl.edu GRCh37 1 155348166 155348168 + inframe_deletion In_Frame_Del DEL CAT CAT - Unknown TCGA-23-1021-01 TCGA-23-1021-10 TCA TCA TCA - TCA TCA Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000392403.3:c.6236_6238del p.Asp2079del p.D2079del ENST00000392403 NM_018489.2 2079 gATGtc/gtc 0 In_Frame_Del TCA 17 ASH1L DEL 1 TCA - 153614792 153614790 WashU COL4A4 1286 genome.wustl.edu GRCh37 2 227958954 227958962 + inframe_deletion In_Frame_Del DEL GGAAGCCCA GGAAGCCCA - Unknown TCGA-23-1021-01 TCGA-23-1021-10 GGAAGCCCA GGAAGCCCA GGAAGCCCA - GGAAGCCCA GGAAGCCCA Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000396625.3:c.1248_1256delNNNNNNNNN p.Leu418_Gly420del p.L418_G420del ENST00000396625 NM_000092.4 416 ccTGGGCTTCCa/cca 0 In_Frame_Del GGAAGCCCA 47 COL4A4 DEL 2 GGAAGCCCA - 227667206 227667198 WashU EXOC2 55770 genome.wustl.edu GRCh37 6 633067 633067 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000230449.4:c.169N>T p.Ala57Ser p.A57S ENST00000230449 NM_018303.5 57 Gca/Tca 0 Missense_Mutation C 25 EXOC2 SNP 6 C A 578067 578067 WashU GAK 2580 genome.wustl.edu GRCh37 4 845686 845686 + missense_variant Missense_Mutation SNP C C G rs55801437 Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C G G G G Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314167.4:c.3360N>C p.Gln1120His p.Q1120H ENST00000314167 NM_005255.2 1120 caG/caC 0 Missense_Mutation C 32 GAK SNP 4 G G 835686 835686 WashU TPO 7173 genome.wustl.edu GRCh37 2 1491750 1491750 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000345913.4:c.1755N>A p.Asp585Glu p.D585E ENST00000345913 NM_000547.5 585 gaC/gaA 0 Missense_Mutation C 18 TPO SNP 2 C A 1470757 1470757 WashU RNPS1 10921 genome.wustl.edu GRCh37 16 2312306 2312306 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000454671.1:c.500N>T p.Ser167Leu p.S167L ENST00000454671 167 tCg/tTg 0 Missense_Mutation C 31 RNPS1 SNP 16 C T 2252307 2252307 WashU NAP1L4 4676 genome.wustl.edu GRCh37 11 2981001 2981001 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380542.4:c.745N>A p.Gly249Arg p.G249R ENST00000380542 NM_005969.3 249 Ggg/Agg 0 Missense_Mutation C 23 NAP1L4 SNP 11 C T 2937577 2937577 WashU CSMD1 64478 genome.wustl.edu GRCh37 8 3216715 3216715 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000537824.1:c.3263G>A p.Gly1088Glu p.G1088E ENST00000537824 NM_033225.5 1088 gGg/gAg 0 Nonsense_Mutation C 22 CSMD1 SNP 8 C T 3204122 3204122 WashU C11orf42 160298 genome.wustl.edu GRCh37 11 6231819 6231819 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316375.2:c.812N>A p.Pro271His p.P271H ENST00000316375 NM_173525.2 271 cCc/cAc 0 Missense_Mutation C 22 C11orf42 SNP 11 C A 6188395 6188395 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578204 7578204 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.645T>A p.Ser215Arg p.S215R ENST00000269305 NM_001126112.2 215 agT/agA 0 Missense_Mutation A 6 TP53 SNP 17 T T 7518929 7518929 WashU PZP 5858 genome.wustl.edu GRCh37 12 9355269 9355269 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261336.2:c.279N>G p.Ile93Met p.I93M ENST00000261336 NM_002864.2 93 atC/atG 0 Missense_Mutation G 33 PZP SNP 12 G C 9246536 9246536 WashU PAK7 57144 genome.wustl.edu GRCh37 20 9546755 9546755 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000353224.5:c.1267N>G p.Gln423Glu p.Q423E ENST00000353224 NM_177990.2 423 Cag/Gag 0 Missense_Mutation G 46 PAK7 SNP 20 G C 9494755 9494755 WashU USP43 124739 genome.wustl.edu GRCh37 17 9631299 9631299 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000285199.7:c.2364N>T p.Arg788= p.R788= ENST00000285199 NM_001267576.1 788 cgG/cgT 0 Silent G 43 USP43 SNP 17 G T 9572024 9572024 WashU MYH8 4626 genome.wustl.edu GRCh37 17 10304046 10304046 + synonymous_variant Silent SNP T T A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000403437.2:c.3396N>T p.Arg1132= p.R1132= ENST00000403437 NM_002472.2 1132 cgA/cgT 0 Silent T 54 MYH8 SNP 17 T A 10244771 10244771 WashU MYH4 4622 genome.wustl.edu GRCh37 17 10363304 10363304 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000255381.2:c.1381N>C p.Gly461Arg p.G461R ENST00000255381 NM_017533.2 461 Ggg/Cgg 0 Missense_Mutation C 23 MYH4 SNP 17 C G 10304029 10304029 WashU RGL3 57139 genome.wustl.edu GRCh37 19 11527320 11527320 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393423.3:c.393G>A p.Ala131= p.A131= ENST00000393423 131 gcG/gcA 0 Silent C 23 RGL3 SNP 19 C T 11388320 11388320 WashU BTBD3 22903 genome.wustl.edu GRCh37 20 11903398 11903398 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405977.1:c.653N>G p.Thr218Ser p.T218S ENST00000405977 NM_001282554.1 218 aCc/aGc 0 Missense_Mutation C 18 BTBD3 SNP 20 C G 11851398 11851398 WashU MFN2 9927 genome.wustl.edu GRCh37 1 12065962 12065962 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000235329.5:c.1690N>T p.Arg564Trp p.R564W ENST00000235329 NM_014874.3 564 Cgg/Tgg 0 Missense_Mutation C 31 MFN2 SNP 1 C T 11988549 11988549 WashU FREM1 158326 genome.wustl.edu GRCh37 9 14848670 14848670 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422223.2:c.1254G>T p.Trp418Cys p.W418C ENST00000422223 NM_144966.5 418 tgG/tgT 0 Missense_Mutation C 30 FREM1 SNP 9 A A 14838670 14838670 WashU CUBN 8029 genome.wustl.edu GRCh37 10 16982056 16982056 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377833.4:c.5523N>T p.Thr1841= p.T1841= ENST00000377833 NM_001081.3 1841 acG/acT 0 Silent C 23 CUBN SNP 10 C A 17022062 17022062 WashU TBX1 6899 genome.wustl.edu GRCh37 22 19751755 19751755 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332710.4:c.590N>T p.Pro197Leu p.P197L ENST00000332710 NM_080647.1 197 cCg/cTg 0 Missense_Mutation C 23 TBX1 SNP 22 C T 18131755 18131755 WashU FKBP8 23770 genome.wustl.edu GRCh37 19 18649133 18649133 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000608443.1:c.665N>G p.Ala222Gly p.A222G ENST00000608443 222 gCc/gGc 0 Missense_Mutation G 42 FKBP8 SNP 19 G C 18510133 18510133 WashU HERC2P3 283755 genome.wustl.edu GRCh37 15 20644819 20644819 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C T Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000428453.1:n.3129N>A *1043* ENST00000428453 0 Silent C 17 HERC2P2 SNP 15 C T 18904833 18904833 WashU PLEKHA5 54477 genome.wustl.edu GRCh37 12 19522733 19522733 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000429027.2:c.*11+1N>C p.X4_splice ENST00000429027 NM_001256470.1 0 Splice_Site_SNP G 36 PLEKHA5 SNP 12 G C 19414000 19414000 WashU NCAM2 4685 genome.wustl.edu GRCh37 21 22710714 22710714 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400546.1:c.904N>T p.Pro302Ser p.P302S ENST00000400546 NM_004540.3 302 Cct/Tct 0 Missense_Mutation C 26 NCAM2 SNP 21 C T 21632585 21632585 WashU GGT5 2687 genome.wustl.edu GRCh37 22 24615945 24615945 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398292.3:c.1757N>T p.Gly586Val p.G586V ENST00000398292 586 gGc/gTc 0 Missense_Mutation C 26 GGT5 SNP 22 C A 22945945 22945945 WashU SOX5 6660 genome.wustl.edu GRCh37 12 23687162 23687162 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000451604.2:c.2283N>T p.Gln761His p.Q761H ENST00000451604 761 caA/caT 0 Missense_Mutation T 56 SOX5 SNP 12 T A 23578429 23578429 WashU CPNE6 9362 genome.wustl.edu GRCh37 14 24546493 24546493 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397016.2:c.1430N>G p.Ser477Cys p.S477C ENST00000397016 NM_001280558.1 477 tCt/tGt 0 Missense_Mutation C 32 CPNE6 SNP 14 C G 23616333 23616333 WashU MTMR6 9107 genome.wustl.edu GRCh37 13 25831942 25831942 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381801.5:c.901N>A p.Gly301Ser p.G301S ENST00000381801 NM_004685.3 301 Ggt/Agt 0 Missense_Mutation C 23 MTMR6 SNP 13 C T 24729942 24729942 WashU HIST1H2BG 8339 genome.wustl.edu GRCh37 6 26216823 26216823 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244601.3:c.49N>G p.Lys17Glu p.K17E ENST00000244601 NM_003518.3 17 Aag/Gag 0 Missense_Mutation T 62 HIST1H2BG SNP 6 T C 26324802 26324802 WashU APP 351 genome.wustl.edu GRCh37 21 27484437 27484437 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000346798.3:c.84N>T p.Leu28= p.L28= ENST00000346798 NM_000484.3 28 ctG/ctT 0 Silent C 25 APP SNP 21 C A 26406308 26406308 WashU SYTL1 84958 genome.wustl.edu GRCh37 1 27677362 27677362 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000543823.1:c.1083N>A p.Asn361Lys p.N361K ENST00000543823 361 aaC/aaA 0 Missense_Mutation C 17 SYTL1 SNP 1 C A 27549949 27549949 WashU EYA3 2140 genome.wustl.edu GRCh37 1 28362081 28362081 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373871.3:c.335N>A p.Thr112Asn p.T112N ENST00000373871 112 aCc/aAc 0 Missense_Mutation G 44 EYA3 SNP 1 G T 28234668 28234668 WashU ZSCAN31 64288 genome.wustl.edu GRCh37 6 28294364 28294364 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000414429.1:c.800N>T p.Tyr267Phe p.Y267F ENST00000414429 267 tAt/tTt 0 Missense_Mutation T 49 ZNF323 SNP 6 T A 28402343 28402343 WashU TPX2 22974 genome.wustl.edu GRCh37 20 30358241 30358241 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300403.6:c.452N>C p.Ile151Thr p.I151T ENST00000300403 NM_012112.4 151 aTc/aCc 0 Missense_Mutation T 50 TPX2 SNP 20 T C 29821902 29821902 WashU CLDN17 26285 genome.wustl.edu GRCh37 21 31538792 31538792 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286808.3:c.144N>T p.Glu48Asp p.E48D ENST00000286808 NM_012131.2 48 gaA/gaT 0 Missense_Mutation T 56 CLDN17 SNP 21 T A 30460663 30460663 WashU DROSHA 29102 genome.wustl.edu GRCh37 5 31449420 31449420 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344624.3:c.2789N>C p.Arg930Thr p.R930T ENST00000344624 930 aGa/aCa 0 Missense_Mutation C 32 RNASEN SNP 5 C G 31485177 31485177 WashU GOLPH3 64083 genome.wustl.edu GRCh37 5 32126330 32126330 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265070.6:c.885N>A p.Ala295= p.A295= ENST00000265070 NM_022130.3 295 gcG/gcA 0 Silent C 19 GOLPH3 SNP 5 C T 32162087 32162087 WashU NOTCH4 4855 genome.wustl.edu GRCh37 6 32190345 32190345 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375023.3:c.394N>T p.Arg132Cys p.R132C ENST00000375023 NM_004557.3 132 Cgc/Tgc 0 Missense_Mutation G 39 NOTCH4 SNP 6 G A 32298323 32298323 WashU BAG1 573 genome.wustl.edu GRCh37 9 33255264 33255264 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000472232.3:c.991N>T p.Gln331Ter p.Q331* ENST00000472232 NM_004323.5 331 Cag/Tag 0 Nonsense_Mutation G 47 BAG1 SNP 9 G A 33245264 33245264 WashU RING1 6015 genome.wustl.edu GRCh37 6 33177781 33177781 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374656.4:c.329T>G p.Ile110Ser p.I110S ENST00000374656 NM_002931.3 110 aTc/aGc 0 Missense_Mutation T 50 RING1 SNP 6 T G 33285759 33285759 WashU KRT25 147183 genome.wustl.edu GRCh37 17 38910189 38910189 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312150.4:c.592N>A p.Leu198Met p.L198M ENST00000312150 NM_181534.3 198 Ctg/Atg 0 Missense_Mutation G 35 KRT25 SNP 17 G T 36163715 36163715 WashU SKP2 6502 genome.wustl.edu GRCh37 5 36180378 36180378 + intron_variant Intron SNP G G A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274255.6:c.1062-1542N>A *354* ENST00000274255 NM_005983.3 0 Missense_Mutation G 47 SKP2 SNP 5 G A 36216135 36216135 WashU DNALI1 7802 genome.wustl.edu GRCh37 1 38027251 38027251 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296218.7:c.557N>G p.Tyr186Cys p.Y186C ENST00000296218 NM_003462.3 186 tAc/tGc 0 Missense_Mutation A 14 DNALI1 SNP 1 A G 37799838 37799838 WashU GOT1L1 137362 genome.wustl.edu GRCh37 8 37793234 37793234 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307599.4:c.917N>C p.Leu306Pro p.L306P ENST00000307599 NM_152413.2 306 cTg/cCg 0 Missense_Mutation A 7 GOT1L1 SNP 8 A G 37912392 37912392 WashU TLR1 7096 genome.wustl.edu GRCh37 4 38799027 38799027 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000308979.2:c.1426N>A p.Ala476Thr p.A476T ENST00000308979 NM_003263.3 476 Gct/Act 0 Missense_Mutation C 25 TLR1 SNP 4 C T 38475422 38475422 WashU SLC2A13 114134 genome.wustl.edu GRCh37 12 40223985 40223985 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000280871.4:c.1365N>A p.Tyr455Ter p.Y455* ENST00000280871 NM_052885.3 455 taC/taA 0 Nonsense_Mutation G 48 SLC2A13 SNP 12 G T 38510252 38510252 WashU SEC23A 10484 genome.wustl.edu GRCh37 14 39512066 39512066 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307712.6:c.1910N>C p.Leu637Pro p.L637P ENST00000307712 NM_006364.2 637 cTt/cCt 0 Missense_Mutation A 3 SEC23A SNP 14 A G 38581817 38581817 WashU SPINT1 6692 genome.wustl.edu GRCh37 15 41145746 41145746 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344051.4:c.663N>C p.Gln221His p.Q221H ENST00000344051 221 caG/caC 0 Missense_Mutation G 34 SPINT1 SNP 15 G C 38933038 38933038 WashU PLA2G4D 283748 genome.wustl.edu GRCh37 15 42363395 42363395 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C T Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000290472.3:c.1802N>A p.Arg601His p.R601H ENST00000290472 NM_178034.3 601 cGc/cAc 0 Missense_Mutation C 27 PLA2G4D SNP 15 C T 40150687 40150687 WashU MYEF2 50804 genome.wustl.edu GRCh37 15 48458162 48458162 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324324.7:c.493N>C p.Asp165His p.D165H ENST00000324324 NM_016132.3 165 Gat/Cat 0 Missense_Mutation C 29 MYEF2 SNP 15 C G 46245454 46245454 WashU RNF114 55905 genome.wustl.edu GRCh37 20 48558183 48558183 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244061.2:c.226N>T p.Arg76Ter p.R76* ENST00000244061 NM_018683.3 76 Cga/Tga 0 Nonsense_Mutation C 23 RNF114 SNP 20 C T 47991590 47991590 WashU PHLDB3 653583 genome.wustl.edu GRCh37 19 43990788 43990788 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000292140.5:c.1401N>A p.Ala467= p.A467= ENST00000292140 NM_198850.3 467 gcG/gcA 0 Silent C 23 PHLDB3 SNP 19 C T 48682628 48682628 WashU TRIM13 10206 genome.wustl.edu GRCh37 13 50586659 50586659 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356017.4:c.592N>T p.Gln198Ter p.Q198* ENST00000356017 198 Caa/Taa 0 Nonsense_Mutation C 29 TRIM13 SNP 13 C T 49484660 49484660 WashU CXorf67 genome.wustl.edu GRCh37 X 51151274 51151274 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342995.2:c.1406N>C p.Leu469Pro p.L469P ENST00000342995 469 cTt/cCt 0 Missense_Mutation T 56 LOC340602 SNP 23 T C 51168014 51168014 WashU CCPG1 9236 genome.wustl.edu GRCh37 15 55652274 55652274 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000442196.3:c.1697N>C p.Phe566Ser p.F566S ENST00000442196 566 tTt/tCt 0 Missense_Mutation A 1 CCPG1 SNP 15 A G 53439566 53439566 WashU NEUROD4 58158 genome.wustl.edu GRCh37 12 55421182 55421182 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000242994.3:c.959N>T p.Gly320Val p.G320V ENST00000242994 NM_021191.2 320 gGt/gTt 0 Missense_Mutation G 44 NEUROD4 SNP 12 G T 53707449 53707449 WashU CES1 1066 genome.wustl.edu GRCh37 16 55857572 55857572 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360526.3:c.429N>T p.Gly143= p.G143= ENST00000360526 NM_001266.4 143 ggG/ggT 0 Silent C 22 CES1 SNP 16 C A 54415073 54415073 WashU BSND 7809 genome.wustl.edu GRCh37 1 55472682 55472682 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371265.4:c.285N>A p.Gln95= p.Q95= ENST00000371265 NM_057176.2 95 caG/caA 0 Silent G 34 BSND SNP 1 G A 55245270 55245270 WashU CCDC88A 55704 genome.wustl.edu GRCh37 2 55536106 55536106 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336838.6:c.4223N>G p.Asp1408Gly p.D1408G ENST00000336838 1408 gAt/gGt 0 Missense_Mutation T 50 CCDC88A SNP 2 T C 55389610 55389610 WashU BNIP2 663 genome.wustl.edu GRCh37 15 59964835 59964835 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000267859.3:c.938+1N>T p.X313_splice ENST00000267859 0 Splice_Site_SNP C 20 BNIP2 SNP 15 C A 57752127 57752127 WashU FGGY 55277 genome.wustl.edu GRCh37 1 60228249 60228249 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371218.4:c.1721N>G p.Asp574Gly p.D574G ENST00000371218 NM_001113411.1 574 gAt/gGt 0 Missense_Mutation A 12 FGGY SNP 1 A G 60000837 60000837 WashU CHD7 55636 genome.wustl.edu GRCh37 8 61743045 61743045 + synonymous_variant Silent SNP T T G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000423902.2:c.3687N>G p.Leu1229= p.L1229= ENST00000423902 NM_017780.3 1229 ctT/ctG 0 Silent T 64 CHD7 SNP 8 T G 61905599 61905599 WashU CCT4 10575 genome.wustl.edu GRCh37 2 62099658 62099658 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394440.3:c.1191N>A p.Val397= p.V397= ENST00000394440 NM_006430.3 397 gtG/gtA 0 Silent C 29 CCT4 SNP 2 C T 61953162 61953162 WashU AURKC 6795 genome.wustl.edu GRCh37 19 57746636 57746636 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302804.7:c.781N>G p.Ser261Ala p.S261A ENST00000302804 NM_001015878.1 261 Tca/Gca 0 Missense_Mutation T 50 AURKC SNP 19 T G 62438448 62438448 WashU JMJD1C 221037 genome.wustl.edu GRCh37 10 65187737 65187737 + intron_variant Intron SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C T T T T Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399262.2:c.168+37518N>A *56* ENST00000399262 NM_032776.1 0 Silent C 22 LOC100128295 SNP 10 T T 64857743 64857743 WashU ZFP90 146198 genome.wustl.edu GRCh37 16 68597502 68597502 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000570495.1:c.812N>T p.Glu271Val p.E271V ENST00000570495 271 gAg/gTg 0 Missense_Mutation A 11 ZFP90 SNP 16 A T 67155003 67155003 WashU RP11-254B13.1 genome.wustl.edu GRCh37 12 68946875 68946875 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000435879.2:n.788N>A *263* ENST00000435879 0 Missense_Mutation G 35 LOC387867 SNP 12 G T 67233142 67233142 WashU DNAI2 64446 genome.wustl.edu GRCh37 17 72285862 72285862 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000446837.2:c.597N>T p.Tyr199= p.Y199= ENST00000446837 199 taC/taT 0 Silent C 17 DNAI2 SNP 17 C T 69797457 69797457 WashU RNF213 57674 genome.wustl.edu GRCh37 17 78317686 78317686 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000582970.1:c.6213C>G p.Phe2071Leu p.F2071L ENST00000582970 NM_001256071.1 2071 ttC/ttG 0 Missense_Mutation C 29 RNF213 SNP 17 C G 75932281 75932281 WashU PTGFR 5737 genome.wustl.edu GRCh37 1 79002109 79002109 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370757.3:c.817N>T p.Gly273Ter p.G273* ENST00000370757 NM_000959.3 273 Gga/Tga 0 Nonsense_Mutation G 47 PTGFR SNP 1 G T 78774697 78774697 WashU SEL1L 6400 genome.wustl.edu GRCh37 14 81964820 81964820 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336735.4:c.910N>A p.Gly304Ser p.G304S ENST00000336735 NM_005065.5 304 Ggc/Agc 0 Missense_Mutation C 21 SEL1L SNP 14 C T 81034573 81034573 WashU HPSE 10855 genome.wustl.edu GRCh37 4 84231915 84231915 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405413.2:c.802N>A p.Val268Ile p.V268I ENST00000405413 NM_006665.5 268 Gtt/Att 0 Missense_Mutation C 17 HPSE SNP 4 C T 84450939 84450939 WashU GRM3 2913 genome.wustl.edu GRCh37 7 86468316 86468316 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361669.2:c.1486N>A p.Ser496Thr p.S496T ENST00000361669 NM_000840.2 496 Tct/Act 0 Missense_Mutation T 54 GRM3 SNP 7 T A 86306252 86306252 WashU UNC45A 55898 genome.wustl.edu GRCh37 15 91489894 91489894 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000418476.2:c.1250C>T p.Thr417Met p.T417M ENST00000418476 NM_018671.3 417 aCg/aTg 0 Missense_Mutation C 19 UNC45A SNP 15 C T 89290898 89290898 WashU CRADD 8738 genome.wustl.edu GRCh37 12 94072616 94072616 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000542893.2:c.66N>T p.Val22= p.V22= ENST00000542893 22 gtG/gtT 0 Silent G 47 CRADD SNP 12 G T 92596747 92596747 WashU HEPHL1 341208 genome.wustl.edu GRCh37 11 93754554 93754554 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315765.9:c.20N>T p.Ala7Val p.A7V ENST00000315765 NM_001098672.1 7 gCt/gTt 0 Missense_Mutation C 28 HEPHL1 SNP 11 C T 93394202 93394202 WashU BCAR3 8412 genome.wustl.edu GRCh37 1 94054874 94054874 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370244.1:c.589N>G p.Gln197Glu p.Q197E ENST00000370244 NM_001261408.1 197 Cag/Gag 0 Missense_Mutation G 45 BCAR3 SNP 1 G C 93827462 93827462 WashU PLEKHF2 79666 genome.wustl.edu GRCh37 8 96166689 96166689 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315367.3:c.417N>T p.Lys139Asn p.K139N ENST00000315367 NM_024613.3 139 aaG/aaT 0 Missense_Mutation G 33 PLEKHF2 SNP 8 G T 96235865 96235865 WashU CYP2C18 1562 genome.wustl.edu GRCh37 10 96447594 96447594 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000285979.6:c.236N>T p.Gly79Val p.G79V ENST00000285979 NM_000772.2 79 gGa/gTa 0 Missense_Mutation G 41 CYP2C18 SNP 10 G T 96437584 96437584 WashU REV1 51455 genome.wustl.edu GRCh37 2 100055283 100055283 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258428.3:c.993N>A p.Thr331= p.T331= ENST00000258428 NM_001037872.1 331 acG/acA 0 Silent C 19 REV1 SNP 2 C T 99421715 99421715 WashU OR5K2 402135 genome.wustl.edu GRCh37 3 98217146 98217146 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000427338.1:c.622N>A p.Val208Ile p.V208I ENST00000427338 NM_001004737.1 208 Gtc/Atc 0 Missense_Mutation G 36 OR5K2 SNP 3 G A 99699836 99699836 WashU NALCN 259232 genome.wustl.edu GRCh37 13 101717867 101717867 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000251127.6:c.4493G>A p.Arg1498His p.R1498H ENST00000251127 NM_052867.2 1498 cGt/cAt 0 Missense_Mutation C 19 NALCN SNP 13 C T 100515868 100515868 WashU TBC1D8 11138 genome.wustl.edu GRCh37 2 101654923 101654923 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376840.4:c.1230N>T p.Met410Ile p.M410I ENST00000376840 410 atG/atT 0 Missense_Mutation C 21 TBC1D8 SNP 2 C A 101021355 101021355 WashU BLOC1S2 282991 genome.wustl.edu GRCh37 10 102045938 102045938 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370372.2:c.88N>G p.Lys30Glu p.K30E ENST00000370372 NM_173809.4 30 Aag/Gag 0 Missense_Mutation T 64 BLOC1S2 SNP 10 T C 102035928 102035928 WashU MMP8 4317 genome.wustl.edu GRCh37 11 102593395 102593395 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000236826.3:c.112N>A p.Glu38Lys p.E38K ENST00000236826 NM_002424.2 38 Gaa/Aaa 0 Missense_Mutation C 30 MMP8 SNP 11 C T 102098605 102098605 WashU IL37 27178 genome.wustl.edu GRCh37 2 113675240 113675240 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263326.3:c.294N>A p.Leu98= p.L98= ENST00000263326 NM_014439.3 98 ttG/ttA 0 Silent G 45 IL1F7 SNP 2 G A 113391711 113391711 WashU HS3ST5 222537 genome.wustl.edu GRCh37 6 114379323 114379323 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312719.5:c.139N>A p.Leu47Met p.L47M ENST00000312719 47 Ctg/Atg 0 Missense_Mutation G 36 HS3ST5 SNP 6 G T 114486016 114486016 WashU AMPD1 270 genome.wustl.edu GRCh37 1 115218313 115218313 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000520113.2:c.1616N>C p.Ile539Thr p.I539T ENST00000520113 539 aTc/aCc 0 Missense_Mutation A 12 AMPD1 SNP 1 A G 115019836 115019836 WashU ASZ1 136991 genome.wustl.edu GRCh37 7 117021117 117021117 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000284629.2:c.893N>C p.Arg298Thr p.R298T ENST00000284629 NM_130768.2 298 aGg/aCg 0 Missense_Mutation C 24 ASZ1 SNP 7 C G 116808353 116808353 WashU ROS1 6098 genome.wustl.edu GRCh37 6 117710595 117710595 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368508.3:c.1677N>A p.Gly559= p.G559= ENST00000368508 NM_002944.2 559 ggC/ggA 0 Silent G 42 ROS1 SNP 6 G T 117817288 117817288 WashU VPS11 55823 genome.wustl.edu GRCh37 11 118941061 118941061 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300793.6:c.587N>G p.Ala196Gly p.A196G ENST00000300793 NM_021729.4 196 gCa/gGa 0 Missense_Mutation C 25 VPS11 SNP 11 C G 118446271 118446271 WashU DMXL1 1657 genome.wustl.edu GRCh37 5 118485175 118485175 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311085.8:c.3653N>G p.Ser1218Cys p.S1218C ENST00000311085 NM_005509.4 1218 tCt/tGt 0 Missense_Mutation C 32 DMXL1 SNP 5 C G 118513074 118513074 WashU SORL1 6653 genome.wustl.edu GRCh37 11 121461798 121461798 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260197.7:c.4302N>T p.Asp1434= p.D1434= ENST00000260197 NM_003105.5 1434 gaC/gaT 0 Silent C 17 SORL1 SNP 11 C T 120967008 120967008 WashU MEGF10 84466 genome.wustl.edu GRCh37 5 126732383 126732383 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274473.6:c.572N>C p.Cys191Ser p.C191S ENST00000274473 NM_032446.2 191 tGt/tCt 0 Missense_Mutation G 48 MEGF10 SNP 5 G C 126760282 126760282 WashU TMEM132D 121256 genome.wustl.edu GRCh37 12 129558863 129558863 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422113.2:c.2857G>T p.Glu953Ter p.E953* ENST00000422113 NM_133448.2 953 Gag/Tag 0 Nonsense_Mutation C 31 TMEM132D SNP 12 C A 128124816 128124816 WashU ZBTB43 23099 genome.wustl.edu GRCh37 9 129596150 129596150 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373464.4:c.1362C>T p.Tyr454= p.Y454= ENST00000373464 NM_014007.3 454 taC/taT 0 Silent C 19 ZBTB43 SNP 9 C T 128635971 128635971 WashU LCT 3938 genome.wustl.edu GRCh37 2 136567006 136567006 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264162.2:c.2911N>T p.Val971Leu p.V971L ENST00000264162 NM_002299.2 971 Gtg/Ttg 0 Missense_Mutation C 18 LCT SNP 2 C A 136283476 136283476 WashU BRAF 673 genome.wustl.edu GRCh37 7 140449169 140449169 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000288602.6:c.1910N>G p.Ser637Ter p.S637* ENST00000288602 NM_004333.4 637 tCa/tGa 0 Nonsense_Mutation G 45 BRAF SNP 7 G C 140095638 140095638 WashU ZNF398 57541 genome.wustl.edu GRCh37 7 148851129 148851129 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000475153.1:c.117N>G p.Ala39= p.A39= ENST00000475153 39 gcA/gcG 0 Silent A 7 ZNF398 SNP 7 A G 148482062 148482062 WashU IGSF10 285313 genome.wustl.edu GRCh37 3 151164524 151164524 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282466.3:c.3245N>G p.Pro1082Arg p.P1082R ENST00000282466 NM_178822.4 1082 cCa/cGa 0 Missense_Mutation G 47 IGSF10 SNP 3 G C 152647214 152647214 WashU ZBTB7B 51043 genome.wustl.edu GRCh37 1 154987706 154987706 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G A G A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000417934.2:c.672G>A p.Pro224= p.P224= ENST00000417934 NM_001252406.2 224 ccG/ccA 0 Silent G 38 ZBTB7B SNP 1 G A 153254330 153254330 WashU DCST2 127579 genome.wustl.edu GRCh37 1 155002568 155002568 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368424.3:c.1169T>G p.Ile390Ser p.I390S ENST00000368424 NM_144622.2 390 aTc/aGc 0 Missense_Mutation A 12 DCST2 SNP 1 A C 153269192 153269192 WashU ARHGEF11 9826 genome.wustl.edu GRCh37 1 156926338 156926338 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368194.3:c.1545C>T p.Ala515= p.A515= ENST00000368194 NM_198236.2 515 gcC/gcT 0 Silent G 43 ARHGEF11 SNP 1 G A 155192962 155192962 WashU FCRL1 115350 genome.wustl.edu GRCh37 1 157771886 157771886 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368176.3:c.705T>C p.Ser235= p.S235= ENST00000368176 NM_001159398.1 235 tcT/tcC 0 Silent A 11 FCRL1 SNP 1 A G 156038510 156038510 WashU OR10X1 128367 genome.wustl.edu GRCh37 1 158549529 158549529 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368150.1:c.161C>A p.Thr54Asn p.T54N ENST00000368150 NM_001004477.1 54 aCc/aAc 0 Missense_Mutation G 44 OR10X1 SNP 1 G T 156816153 156816153 WashU PHC3 80012 genome.wustl.edu GRCh37 3 169847157 169847157 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000495893.2:c.1103A>C p.Gln368Pro p.Q368P ENST00000495893 NM_024947.3 368 cAg/cCg 0 Missense_Mutation T 55 PHC3 SNP 3 T G 171329851 171329851 WashU PPIAP66 643997 genome.wustl.edu GRCh37 2 174350740 174350740 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000440938.1:n.351C>G *117* ENST00000440938 0 Silent G 47 LOC643997 SNP 2 G C 174058986 174058986 WashU ADAM29 11086 genome.wustl.edu GRCh37 4 175897680 175897680 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359240.3:c.1004G>T p.Gly335Val p.G335V ENST00000359240 NM_014269.4 335 gGt/gTt 0 Missense_Mutation G 44 ADAM29 SNP 4 G T 176134255 176134255 WashU ADAM29 11086 genome.wustl.edu GRCh37 4 175897769 175897769 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359240.3:c.1093A>G p.Lys365Glu p.K365E ENST00000359240 NM_014269.4 365 Aaa/Gaa 0 Missense_Mutation A 13 ADAM29 SNP 4 A G 176134344 176134344 WashU PLEKHA3 65977 genome.wustl.edu GRCh37 2 179350382 179350382 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000234453.5:c.55T>A p.Trp19Arg p.W19R ENST00000234453 NM_019091.3 19 Tgg/Agg 0 Missense_Mutation T 63 PLEKHA3 SNP 2 T A 179058628 179058628 WashU FAT1 2195 genome.wustl.edu GRCh37 4 187630233 187630233 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000441802.2:c.749C>T p.Ala250Val p.A250V ENST00000441802 NM_005245.3 250 gCc/gTc 0 Missense_Mutation G 42 FAT1 SNP 4 G A 187867227 187867227 WashU ASPM 259266 genome.wustl.edu GRCh37 1 197070656 197070656 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367409.4:c.7725G>A p.Lys2575= p.K2575= ENST00000367409 NM_018136.4 2575 aaG/aaA 0 Silent C 28 ASPM SNP 1 C T 195337279 195337279 WashU MPP4 58538 genome.wustl.edu GRCh37 2 202550728 202550728 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409474.3:c.406C>G p.Pro136Ala p.P136A ENST00000409474 NM_033066.2 136 Ccc/Gcc 0 Missense_Mutation G 44 MPP4 SNP 2 G C 202258973 202258973 WashU ABCA12 26154 genome.wustl.edu GRCh37 2 215840695 215840695 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272895.7:c.5195T>C p.Ile1732Thr p.I1732T ENST00000272895 NM_173076.2 1732 aTa/aCa 0 Missense_Mutation A 16 ABCA12 SNP 2 A G 215548940 215548940 WashU RYR2 6262 genome.wustl.edu GRCh37 1 237863534 237863534 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 T T A T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000366574.2:c.9134T>A p.Val3045Glu p.V3045E ENST00000366574 NM_001035.2 3045 gTg/gAg 0 Missense_Mutation T 59 RYR2 SNP 1 A T 235930157 235930157 WashU HMCN1 83872 genome.wustl.edu GRCh37 1 186151415 186151415 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271588.4:c.16410C>T p.Cys5470= p.C5470= ENST00000271588 NM_031935.2 5470 tgC/tgT 0 Silent C 26 HMCN1 SNP 1 C T 184418038 184418038 WashU SESN2 83667 genome.wustl.edu GRCh37 1 28601440 28601440 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253063.3:c.1125C>T p.Tyr375= p.Y375= ENST00000253063 NM_031459.4 375 taC/taT 0 Silent C 17 SESN2 SNP 1 C T 28474027 28474027 WashU MMP7 4316 genome.wustl.edu GRCh37 11 102401416 102401416 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260227.4:c.16C>A p.Leu6Met p.L6M ENST00000260227 NM_002423.3 6 Ctg/Atg 0 Missense_Mutation G 34 MMP7 SNP 11 G T 101906626 101906626 WashU DAGLA 747 genome.wustl.edu GRCh37 11 61511228 61511228 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257215.5:c.2396G>C p.Gly799Ala p.G799A ENST00000257215 NM_006133.2 799 gGc/gCc 0 Missense_Mutation G 42 DAGLA SNP 11 G C 61267804 61267804 WashU DNAH10 196385 genome.wustl.edu GRCh37 12 124272389 124272389 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409039.3:c.1277C>A p.Ala426Asp p.A426D ENST00000409039 NM_207437.3 426 gCc/gAc 0 Missense_Mutation C 26 DNAH10 SNP 12 C A 122838342 122838342 WashU C15orf48 84419 genome.wustl.edu GRCh37 15 45723253 45723253 + missense_variant Missense_Mutation SNP G G C Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000344300.3:c.91G>C p.Ala31Pro p.A31P ENST00000344300 NM_032413.3 31 Gct/Cct 0 Missense_Mutation G 38 C15orf48 SNP 15 G C 43510545 43510545 WashU HMX1 3166 genome.wustl.edu GRCh37 4 53601 53601 + intron_variant Intron SNP G G A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000526473.2:c.3+216G>A *1* ENST00000526473 0 Silent G 38 HMX1 SNP 4 G A 43601 43601 WashU CEP135 9662 genome.wustl.edu GRCh37 4 56878120 56878120 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257287.4:c.2771G>T p.Arg924Ile p.R924I ENST00000257287 NM_025009.4 924 aGa/aTa 0 Missense_Mutation G 33 CEP135 SNP 4 G T 56572877 56572877 WashU TSSK1B 83942 genome.wustl.edu GRCh37 5 112769970 112769970 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390666.3:c.567C>T p.Gly189= p.G189= ENST00000390666 NM_032028.3 189 ggC/ggT 0 Silent G 46 TSSK1B SNP 5 G A 112797869 112797869 WashU KCNH2 3757 genome.wustl.edu GRCh37 7 150649923 150649923 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262186.5:c.1147G>A p.Asp383Asn p.D383N ENST00000262186 NM_000238.3 383 Gac/Aac 0 Missense_Mutation C 31 KCNH2 SNP 7 C T 150280856 150280856 WashU PTPRN2 5799 genome.wustl.edu GRCh37 7 157959782 157959782 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389418.4:c.751G>C p.Ala251Pro p.A251P ENST00000389418 NM_002847.3 251 Gcc/Ccc 0 Missense_Mutation C 25 PTPRN2 SNP 7 C G 157652543 157652543 WashU SLC38A5 92745 genome.wustl.edu GRCh37 X 48324676 48324676 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376876.3:c.353C>T p.Ala118Val p.A118V ENST00000376876 118 gCa/gTa 0 Missense_Mutation G 46 SLC38A5 SNP 23 G A 48209620 48209620 WashU USP51 158880 genome.wustl.edu GRCh37 X 55513444 55513444 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1347-01 TCGA-04-1347-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000500968.3:c.1929G>A p.Val643= p.V643= ENST00000500968 NM_201286.3 643 gtG/gtA 0 Silent C 25 USP51 SNP 23 C T 55530169 55530169 WashU ANP32D 23519 genome.wustl.edu GRCh37 12 48866782 48866784 + stop_gained,inframe_deletion Nonsense_Mutation DEL TAG TAG - Unknown TCGA-04-1347-01 TCGA-04-1347-11 TAG TAG TAG - TAG TAG Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000266594.1:c.335_337del p.Leu112_Glu113delinsTer p.L112_E113delins* ENST00000266594 NM_012404.2 112 tTAGaa/taa 0 In_Frame_Del TAG 61 ANP32D DEL 12 TAG - 47153051 47153049 WashU OR4F5 79501 genome.wustl.edu GRCh37 1 69762 69762 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000335137.3:c.672T>G p.Asp224Glu p.D224E ENST00000335137 NM_001005484.1 224 gaT/gaG 0 Missense_Mutation T 49 OR4F5 SNP 1 T G 59625 59625 WashU SLC6A3 6531 genome.wustl.edu GRCh37 5 1409901 1409901 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270349.9:c.1333C>G p.Arg445Gly p.R445G ENST00000270349 NM_001044.4 445 Cgt/Ggt 0 Missense_Mutation G 39 SLC6A3 SNP 5 G C 1462901 1462901 WashU MSRB1 51734 genome.wustl.edu GRCh37 16 1990804 1990804 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000361871.3:c.294C>A p.Ser98Arg p.S98R ENST00000361871 NM_016332.2 98 agC/agA 0 Missense_Mutation G 46 SEPX1 SNP 16 G T 1930805 1930805 WashU MYOM1 8736 genome.wustl.edu GRCh37 18 3079264 3079264 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000356443.4:c.4561C>G p.Pro1521Ala p.P1521A ENST00000356443 NM_019856.1 1521 Ccc/Gcc 0 Missense_Mutation G 42 MYOM1 SNP 18 G C 3069264 3069264 WashU CELF5 60680 genome.wustl.edu GRCh37 19 3282187 3282187 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000292672.2:c.814T>C p.Phe272Leu p.F272L ENST00000292672 NM_021938.3 272 Ttc/Ctc 0 Missense_Mutation T 56 CELF5 SNP 19 T C 3233187 3233187 WashU DFFB 1677 genome.wustl.edu GRCh37 1 3782259 3782259 + intron_variant Intron SNP T T C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378209.3:c.242-117T>C *81* ENST00000378209 NM_004402.2 0 Silent T 55 DFFB SNP 1 T C 3772119 3772119 WashU LRG1 116844 genome.wustl.edu GRCh37 19 4538173 4538173 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306390.6:c.823G>A p.Val275Met p.V275M ENST00000306390 NM_052972.2 275 Gtg/Atg 0 Missense_Mutation C 19 LRG1 SNP 19 C T 4489173 4489173 WashU SEC14L5 9717 genome.wustl.edu GRCh37 16 5055934 5055934 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000251170.7:c.1322A>G p.Glu441Gly p.E441G ENST00000251170 NM_014692.1 441 gAg/gGg 0 Missense_Mutation A 11 SEC14L5 SNP 16 A G 4995935 4995935 WashU GRM7 2917 genome.wustl.edu GRCh37 3 6903441 6903441 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357716.4:c.366C>A p.Phe122Leu p.F122L ENST00000357716 NM_000844.3 122 ttC/ttA 0 Missense_Mutation C 31 GRM7 SNP 3 A A 6878441 6878441 WashU ATN1 1822 genome.wustl.edu GRCh37 12 7048338 7048338 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356654.4:c.3212C>T p.Ala1071Val p.A1071V ENST00000356654 NM_001007026.1 1071 gCa/gTa 0 Missense_Mutation C 25 ATN1 SNP 12 C T 6918599 6918599 WashU CAGE1 285782 genome.wustl.edu GRCh37 6 7373749 7373749 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000502583.1:c.1303G>T p.Val435Leu p.V435L ENST00000502583 NM_001170692.1 435 Gta/Tta 0 Missense_Mutation C 17 CAGE1 SNP 6 C A 7318748 7318748 WashU PNPLA6 10908 genome.wustl.edu GRCh37 19 7619516 7619516 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000414982.3:c.2571C>T p.Asp857= p.D857= ENST00000414982 NM_001166111.1 857 gaC/gaT 0 Silent C 19 PNPLA6 SNP 19 C T 7525516 7525516 WashU PFAS 5198 genome.wustl.edu GRCh37 17 8158834 8158834 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000314666.6:c.399G>A p.Pro133= p.P133= ENST00000314666 NM_012393.2 133 ccG/ccA 0 Silent G 40 PFAS SNP 17 G A 8099559 8099559 WashU MYH8 4626 genome.wustl.edu GRCh37 17 10303802 10303802 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000403437.2:c.3640C>A p.Gln1214Lys p.Q1214K ENST00000403437 NM_002472.2 1214 Cag/Aag 0 Missense_Mutation G 46 MYH8 SNP 17 G T 10244527 10244527 WashU RPL7P46 genome.wustl.edu GRCh37 16 11121161 11121161 + non_coding_transcript_exon_variant RNA SNP A A C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000425129.2:n.281A>C *94* ENST00000425129 0 Missense_Mutation A 9 LOC642451 SNP 16 A C 11028662 11028662 WashU ERVFRD-1 405754 genome.wustl.edu GRCh37 6 11105323 11105323 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000472091.1:c.221T>G p.Ile74Ser p.I74S ENST00000472091 NM_207582.2 74 aTt/aGt 0 Missense_Mutation A 4 HERV-FRD SNP 6 A C 11213309 11213309 WashU ZNF833P 401898 genome.wustl.edu GRCh37 19 11796542 11796542 + non_coding_transcript_exon_variant RNA SNP T T A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000344893.3:n.2541T>A *847* ENST00000344893 0 Missense_Mutation T 58 ZNF833 SNP 19 T A 11657542 11657542 WashU NPPB 4879 genome.wustl.edu GRCh37 1 11918481 11918481 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376468.3:c.178G>T p.Glu60Ter p.E60* ENST00000376468 NM_002521.2 60 Gag/Tag 0 Nonsense_Mutation C 30 NPPB SNP 1 C A 11841068 11841068 WashU CIDEA 1149 genome.wustl.edu GRCh37 18 12274107 12274107 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000320477.9:c.346C>A p.Pro116Thr p.P116T ENST00000320477 NM_001279.3 116 Ccc/Acc 0 Missense_Mutation C 22 CIDEA SNP 18 C A 12264107 12264107 WashU DAND5 199699 genome.wustl.edu GRCh37 19 13080509 13080509 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000317060.2:c.35T>G p.Leu12Arg p.L12R ENST00000317060 NM_152654.2 12 cTg/cGg 0 Missense_Mutation T 55 DAND5 SNP 19 T G 12941509 12941509 WashU MC5R 4161 genome.wustl.edu GRCh37 18 13826421 13826421 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000324750.3:c.657C>T p.Ile219= p.I219= ENST00000324750 NM_005913.2 219 atC/atT 0 Silent C 31 MC5R SNP 18 C T 13816421 13816421 WashU DCAF15 90379 genome.wustl.edu GRCh37 19 14070608 14070608 + synonymous_variant Silent SNP A A G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000254337.6:c.1341A>G p.Thr447= p.T447= ENST00000254337 NM_138353.2 447 acA/acG 0 Silent A 6 LOC90379 SNP 19 A G 13931608 13931608 WashU OR10H4 126541 genome.wustl.edu GRCh37 19 16060303 16060303 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000322107.1:c.486G>A p.Thr162= p.T162= ENST00000322107 NM_001004465.1 162 acG/acA 0 Silent G 37 OR10H4 SNP 19 G A 15921303 15921303 WashU NSUN6 221078 genome.wustl.edu GRCh37 10 18940060 18940060 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377304.4:c.73G>T p.Glu25Ter p.E25* ENST00000377304 NM_182543.2 25 Gag/Tag 0 Nonsense_Mutation C 30 NSUN6 SNP 10 C A 18980066 18980066 WashU NCAN 1463 genome.wustl.edu GRCh37 19 19335156 19335156 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000252575.6:c.692G>A p.Arg231His p.R231H ENST00000252575 NM_004386.2 231 cGt/cAt 0 Missense_Mutation G 40 NCAN SNP 19 G A 19196156 19196156 WashU NPC1 4864 genome.wustl.edu GRCh37 18 21118554 21118554 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000269228.5:c.2993T>G p.Phe998Cys p.F998C ENST00000269228 NM_000271.4 998 tTc/tGc 0 Missense_Mutation A 9 NPC1 SNP 18 A C 19372552 19372552 WashU EFHB 151651 genome.wustl.edu GRCh37 3 19975027 19975027 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295824.9:c.484G>A p.Ala162Thr p.A162T ENST00000295824 NM_144715.3 162 Gct/Act 0 Missense_Mutation C 25 EFHB SNP 3 C T 19950031 19950031 WashU DNAH3 55567 genome.wustl.edu GRCh37 16 21093010 21093010 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000261383.3:c.2916A>C p.Glu972Asp p.E972D ENST00000261383 NM_017539.1 972 gaA/gaC 0 Missense_Mutation T 64 DNAH3 SNP 16 T G 21000511 21000511 WashU RRN3P3 100131998 genome.wustl.edu GRCh37 16 22441186 22441186 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000551766.1:n.1220G>A *407* ENST00000551766 0 Missense_Mutation C 30 LOC100131998 SNP 16 C T 22348687 22348687 WashU ARID1A 8289 genome.wustl.edu GRCh37 1 27087417 27087417 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324856.7:c.1991C>G p.Ser664Ter p.S664* ENST00000324856 NM_006015.4 664 tCa/tGa 0 Nonsense_Mutation C 29 ARID1A SNP 1 C G 26960004 26960004 WashU STK38L 23012 genome.wustl.edu GRCh37 12 27462047 27462047 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389032.3:c.310G>C p.Val104Leu p.V104L ENST00000389032 NM_015000.3 104 Gtg/Ctg 0 Missense_Mutation G 44 STK38L SNP 12 G C 27353314 27353314 WashU RHOT1 55288 genome.wustl.edu GRCh37 17 30503219 30503219 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000358365.3:c.316G>C p.Asp106His p.D106H ENST00000358365 NM_001033568.1 106 Gac/Cac 0 Missense_Mutation G 33 RHOT1 SNP 17 G C 27527332 27527332 WashU CDK5R1 8851 genome.wustl.edu GRCh37 17 30815160 30815160 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000313401.3:c.522C>T p.Pro174= p.P174= ENST00000313401 NM_003885.2 174 ccC/ccT 0 Silent C 23 CDK5R1 SNP 17 T T 27839273 27839273 WashU NUGGC 389643 genome.wustl.edu GRCh37 8 27887889 27887889 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000413272.2:c.1955A>T p.Lys652Met p.K652M ENST00000413272 NM_001010906.1 652 aAg/aTg 0 Missense_Mutation T 56 C8orf80 SNP 8 T A 27943808 27943808 WashU MTUS2 23281 genome.wustl.edu GRCh37 13 29898764 29898764 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000431530.3:c.2851G>A p.Ala951Thr p.A951T ENST00000431530 NM_001033602.2 951 Gct/Act 0 Missense_Mutation G 46 MTUS2 SNP 13 A A 28796764 28796764 WashU WRN 7486 genome.wustl.edu GRCh37 8 30949409 30949409 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298139.5:c.1893T>G p.Ile631Met p.I631M ENST00000298139 NM_000553.4 631 atT/atG 0 Missense_Mutation T 61 WRN SNP 8 T G 31068951 31068951 WashU DMD 1756 genome.wustl.edu GRCh37 X 32380910 32380910 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000357033.4:c.5320G>T p.Gly1774Ter p.G1774* ENST00000357033 NM_004007.2 1774 Gga/Tga 0 Nonsense_Mutation C 21 DMD SNP 23 C A 32290831 32290831 WashU DDX52 11056 genome.wustl.edu GRCh37 17 35990068 35990068 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000349699.2:c.739G>T p.Ala247Ser p.A247S ENST00000349699 NM_007010.3 247 Gcc/Tcc 0 Missense_Mutation C 25 DDX52 SNP 17 C A 33064181 33064181 WashU FNDC5 252995 genome.wustl.edu GRCh37 1 33333432 33333432 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000609187.1:c.196A>T p.Met66Leu p.M66L ENST00000609187 66 Atg/Ttg 0 Missense_Mutation T 51 FNDC5 SNP 1 T A 33106019 33106019 WashU RBL1 5933 genome.wustl.edu GRCh37 20 35661068 35661068 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373664.3:c.2382G>C p.Lys794Asn p.K794N ENST00000373664 NM_002895.3 794 aaG/aaC 0 Missense_Mutation C 24 RBL1 SNP 20 C G 35094482 35094482 WashU PDXP 57026 genome.wustl.edu GRCh37 22 38061647 38061647 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000215904.6:c.660G>C p.Glu220Asp p.E220D ENST00000215904 NM_020315.4 220 gaG/gaC 0 Missense_Mutation G 36 PDXP SNP 22 G C 36391593 36391593 WashU CEP89 84902 genome.wustl.edu GRCh37 19 33422396 33422396 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000305768.5:c.968A>T p.His323Leu p.H323L ENST00000305768 NM_032816.3 323 cAt/cTt 0 Missense_Mutation T 51 CCDC123 SNP 19 T A 38114236 38114236 WashU BUB1B 701 genome.wustl.edu GRCh37 15 40504774 40504774 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000287598.6:c.2460T>A p.Asp820Glu p.D820E ENST00000287598 NM_001211.5 820 gaT/gaA 0 Missense_Mutation T 50 BUB1B SNP 15 T A 38292066 38292066 WashU SCN10A 6336 genome.wustl.edu GRCh37 3 38739846 38739846 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000449082.2:c.4865C>T p.Ser1622Phe p.S1622F ENST00000449082 NM_006514.2 1622 tCt/tTt 0 Missense_Mutation G 33 SCN10A SNP 3 G A 38714850 38714850 WashU CCR8 1237 genome.wustl.edu GRCh37 3 39374518 39374518 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326306.4:c.696C>G p.Asn232Lys p.N232K ENST00000326306 NM_005201.3 232 aaC/aaG 0 Missense_Mutation C 17 CCR8 SNP 3 C G 39349522 39349522 WashU BRWD1 54014 genome.wustl.edu GRCh37 21 40646359 40646359 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333229.2:c.1185G>T p.Trp395Cys p.W395C ENST00000333229 NM_018963.4 395 tgG/tgT 0 Missense_Mutation C 30 BRWD1 SNP 21 C A 39568229 39568229 WashU EHD4 30844 genome.wustl.edu GRCh37 15 42245976 42245976 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000220325.4:c.399C>T p.Asn133= p.N133= ENST00000220325 NM_139265.3 133 aaC/aaT 0 Silent G 40 EHD4 SNP 15 G A 40033268 40033268 WashU PHOX2B 8929 genome.wustl.edu GRCh37 4 41750608 41750608 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000226382.2:c.20C>A p.Ser7Tyr p.S7Y ENST00000226382 NM_003924.3 7 tCt/tAt 0 Missense_Mutation G 33 PHOX2B SNP 4 T T 41445365 41445365 WashU HECW1 23072 genome.wustl.edu GRCh37 7 43532713 43532713 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395891.2:c.3371G>A p.Arg1124His p.R1124H ENST00000395891 NM_015052.3 1124 cGc/cAc 0 Missense_Mutation G 38 HECW1 SNP 7 G A 43499238 43499238 WashU NPC1L1 29881 genome.wustl.edu GRCh37 7 44556455 44556455 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000289547.4:c.3447C>T p.Pro1149= p.P1149= ENST00000289547 NM_013389.2 1149 ccC/ccT 0 Silent G 47 NPC1L1 SNP 7 G A 44522980 44522980 WashU ZNF197 10168 genome.wustl.edu GRCh37 3 44670729 44670729 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396058.1:c.83C>A p.Thr28Asn p.T28N ENST00000396058 28 aCc/aAc 0 Missense_Mutation C 18 ZNF197 SNP 3 C A 44645733 44645733 WashU SHKBP1 92799 genome.wustl.edu GRCh37 19 41089374 41089374 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000291842.5:c.1031G>C p.Gly344Ala p.G344A ENST00000291842 NM_138392.3 344 gGc/gCc 0 Missense_Mutation G 42 SHKBP1 SNP 19 G C 45781214 45781214 WashU MAST2 23139 genome.wustl.edu GRCh37 1 46501738 46501738 + stop_lost Nonstop_Mutation SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361297.2:c.5397G>C p.Ter1799TyrextTer? p.*1799Yext*? ENST00000361297 NM_015112.2 1799 taG/taC 0 Nonstop_Mutation G 34 MAST2 SNP 1 G C 46274325 46274325 WashU LRRC2 79442 genome.wustl.edu GRCh37 3 46563074 46563074 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395905.3:c.1004G>A p.Arg335Gln p.R335Q ENST00000395905 NM_024512.4 335 cGg/cAg 0 Missense_Mutation C 23 LRRC2 SNP 3 C T 46538078 46538078 WashU PSMC3 5702 genome.wustl.edu GRCh37 11 47444497 47444497 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298852.3:c.619A>C p.Asn207His p.N207H ENST00000298852 NM_002804.4 207 Aac/Cac 0 Missense_Mutation T 62 PSMC3 SNP 11 T G 47401073 47401073 WashU DHX30 22907 genome.wustl.edu GRCh37 3 47888807 47888807 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000445061.1:c.1974G>A p.Leu658= p.L658= ENST00000445061 NM_138615.2 658 ctG/ctA 0 Silent G 47 DHX30 SNP 3 G A 47863811 47863811 WashU OR4C46 119749 genome.wustl.edu GRCh37 11 51515862 51515862 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328188.1:c.581A>T p.Glu194Val p.E194V ENST00000328188 NM_001004703.1 194 gAa/gTa 0 Missense_Mutation A 9 OR4C46 SNP 11 A T 51372438 51372438 WashU PKHD1 5314 genome.wustl.edu GRCh37 6 51917880 51917880 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371117.3:c.2134G>C p.Val712Leu p.V712L ENST00000371117 NM_138694.3 712 Gta/Cta 0 Missense_Mutation C 19 PKHD1 SNP 6 C G 52025839 52025839 WashU HNRNPA1 3178 genome.wustl.edu GRCh37 12 54675236 54675236 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340913.6:c.82G>A p.Glu28Lys p.E28K ENST00000340913 NM_002136.2 28 Gag/Aag 0 Missense_Mutation G 45 HNRNPA1 SNP 12 G A 52961503 52961503 WashU NCKAP1L 3071 genome.wustl.edu GRCh37 12 54930003 54930003 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000293373.6:c.3047C>G p.Ser1016Cys p.S1016C ENST00000293373 NM_005337.4 1016 tCt/tGt 0 Missense_Mutation C 32 NCKAP1L SNP 12 C G 53216270 53216270 WashU CACNA1D 776 genome.wustl.edu GRCh37 3 53758006 53758006 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000288139.4:c.2140G>A p.Ala714Thr p.A714T ENST00000288139 NM_000720.3 714 Gca/Aca 0 Missense_Mutation G 34 CACNA1D SNP 3 G A 53733046 53733046 WashU USP24 23358 genome.wustl.edu GRCh37 1 55544264 55544264 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294383.6:c.7261T>C p.Tyr2421His p.Y2421H ENST00000294383 NM_015306.2 2421 Tac/Cac 0 Missense_Mutation A 14 USP24 SNP 1 A G 55316852 55316852 WashU OR5D16 390144 genome.wustl.edu GRCh37 11 55606330 55606330 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378396.1:c.103G>C p.Ala35Pro p.A35P ENST00000378396 NM_001005496.1 35 Gca/Cca 0 Missense_Mutation G 42 OR5D16 SNP 11 G C 55362906 55362906 WashU NLRC5 84166 genome.wustl.edu GRCh37 16 57089399 57089399 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000262510.6:c.3714G>A p.Leu1238= p.L1238= ENST00000262510 NM_032206.4 1238 ttG/ttA 0 Silent G 46 NLRC5 SNP 16 G A 55646900 55646900 WashU COL21A1 81578 genome.wustl.edu GRCh37 6 56044490 56044490 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244728.5:c.526G>A p.Asp176Asn p.D176N ENST00000244728 NM_030820.3 176 Gat/Aat 0 Missense_Mutation C 32 COL21A1 SNP 6 C T 56152449 56152449 WashU ZNF610 162963 genome.wustl.edu GRCh37 19 52856964 52856964 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000403906.3:c.93C>T p.Ile31= p.I31= ENST00000403906 NM_001161425.1 31 atC/atT 0 Silent C 31 ZNF610 SNP 19 C T 57548776 57548776 WashU LILRB4 11006 genome.wustl.edu GRCh37 19 55175798 55175798 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000391736.1:c.517G>A p.Ala173Thr p.A173T ENST00000391736 NM_001278430.2 173 Gct/Act 0 Missense_Mutation G 34 LILRB4 SNP 19 G A 59867610 59867610 WashU SS18L1 26039 genome.wustl.edu GRCh37 20 60740531 60740531 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331758.3:c.877C>T p.Arg293Trp p.R293W ENST00000331758 NM_198935.1 293 Cgg/Tgg 0 Missense_Mutation C 23 SS18L1 SNP 20 C T 60173926 60173926 WashU PGA3 643834 genome.wustl.edu GRCh37 11 60971723 60971723 + synonymous_variant Silent SNP C C A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000325558.6:c.201C>A p.Pro67= p.P67= ENST00000325558 NM_001079807.1 67 ccC/ccA 0 Silent C 22 PGA3 SNP 11 C A 60728299 60728299 WashU CDH19 28513 genome.wustl.edu GRCh37 18 64178858 64178858 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000262150.2:c.1523A>T p.Asn508Ile p.N508I ENST00000262150 NM_021153.3 508 aAt/aTt 0 Missense_Mutation T 52 CDH19 SNP 18 T A 62329838 62329838 WashU THOC7 80145 genome.wustl.edu GRCh37 3 63820831 63820831 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295899.5:c.546A>T p.Glu182Asp p.E182D ENST00000295899 NM_025075.2 182 gaA/gaT 0 Missense_Mutation T 64 THOC7 SNP 3 T A 63795871 63795871 WashU DIS3L 115752 genome.wustl.edu GRCh37 15 66618704 66618704 + splice_donor_variant Splice_Site SNP T T G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000319212.4:c.2201+2T>G p.X734_splice ENST00000319212 NM_001143688.1 0 Splice_Site_SNP T 57 DIS3L SNP 15 T G 64405758 64405758 WashU GPX2 2877 genome.wustl.edu GRCh37 14 65406266 65406266 + synonymous_variant Silent SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000389614.5:c.513C>G p.Arg171= p.R171= ENST00000389614 NM_002083.3 171 cgC/cgG 0 Silent G 46 GPX2 SNP 14 G C 64476019 64476019 WashU RP11-87H9.2 100132437 genome.wustl.edu GRCh37 9 69067903 69067903 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000424707.1:n.105A>G *35* ENST00000424707 0 Missense_Mutation A 12 LOC100132437 SNP 9 A G 68357723 68357723 WashU DCAF5 8816 genome.wustl.edu GRCh37 14 69521948 69521948 + synonymous_variant Silent SNP G G T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000341516.5:c.1455C>A p.Pro485= p.P485= ENST00000341516 NM_003861.2 485 ccC/ccA 0 Silent G 43 DCAF5 SNP 14 G T 68591701 68591701 WashU MED12 9968 genome.wustl.edu GRCh37 X 70352803 70352803 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374080.3:c.4524C>G p.His1508Gln p.H1508Q ENST00000374080 1508 caC/caG 0 Missense_Mutation C 18 MED12 SNP 23 C G 70269528 70269528 WashU LRRC7 57554 genome.wustl.edu GRCh37 1 70518803 70518803 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000035383.5:c.4091T>A p.Val1364Glu p.V1364E ENST00000035383 NM_020794.2 1364 gTa/gAa 0 Missense_Mutation T 57 LRRC7 SNP 1 T A 70291391 70291391 WashU PMFBP1 83449 genome.wustl.edu GRCh37 16 72174374 72174374 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000237353.10:c.744G>A p.Lys248= p.K248= ENST00000237353 NM_031293.2 248 aaG/aaA 0 Silent C 24 PMFBP1 SNP 16 C T 70731875 70731875 WashU DHCR7 1717 genome.wustl.edu GRCh37 11 71153317 71153317 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355527.3:c.404C>T p.Thr135Ile p.T135I ENST00000355527 NM_001360.2 135 aCt/aTt 0 Missense_Mutation G 36 DHCR7 SNP 11 G A 70830965 70830965 WashU FOLR1 2348 genome.wustl.edu GRCh37 11 71907018 71907018 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393679.1:c.571G>A p.Glu191Lys p.E191K ENST00000393679 191 Gaa/Aaa 0 Missense_Mutation G 45 FOLR1 SNP 11 G A 71584666 71584666 WashU ZNF236 7776 genome.wustl.edu GRCh37 18 74580656 74580656 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000253159.8:c.373G>T p.Glu125Ter p.E125* ENST00000253159 NM_007345.3 125 Gag/Tag 0 Nonsense_Mutation G 45 ZNF236 SNP 18 G T 72709644 72709644 WashU KCNQ5 56479 genome.wustl.edu GRCh37 6 73821052 73821052 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342056.2:c.1051G>C p.Ala351Pro p.A351P ENST00000342056 NM_001160132.1 351 Gca/Cca 0 Missense_Mutation G 46 KCNQ5 SNP 6 G C 73877773 73877773 WashU MTO1 25821 genome.wustl.edu GRCh37 6 74183286 74183286 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000415954.2:c.734A>G p.Lys245Arg p.K245R ENST00000415954 NM_001123226.1 245 aAa/aGa 0 Missense_Mutation A 1 MTO1 SNP 6 A G 74240007 74240007 WashU COL12A1 1303 genome.wustl.edu GRCh37 6 75843691 75843691 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322507.8:c.5547C>G p.Asn1849Lys p.N1849K ENST00000322507 NM_004370.5 1849 aaC/aaG 0 Missense_Mutation G 44 COL12A1 SNP 6 G C 75900411 75900411 WashU FRAS1 80144 genome.wustl.edu GRCh37 4 79295373 79295373 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264895.6:c.3119A>T p.Tyr1040Phe p.Y1040F ENST00000264895 NM_025074.6 1040 tAc/tTc 0 Missense_Mutation A 14 FRAS1 SNP 4 A T 79514397 79514397 WashU BTBD1 53339 genome.wustl.edu GRCh37 15 83725179 83725179 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261721.4:c.520C>G p.His174Asp p.H174D ENST00000261721 NM_001011885.1 174 Cat/Gat 0 Missense_Mutation G 48 BTBD1 SNP 15 G C 81516183 81516183 WashU PDE8A 5151 genome.wustl.edu GRCh37 15 85610364 85610364 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310298.4:c.363G>A p.Leu121= p.L121= ENST00000310298 121 ctG/ctA 0 Silent G 47 PDE8A SNP 15 G A 83411368 83411368 WashU SNAP91 9892 genome.wustl.edu GRCh37 6 84270597 84270597 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000439399.2:c.2512G>T p.Ala838Ser p.A838S ENST00000439399 NM_014841.2 838 Gca/Tca 0 Missense_Mutation C 28 SNAP91 SNP 6 C A 84327316 84327316 WashU CEP290 80184 genome.wustl.edu GRCh37 12 88454656 88454656 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000552810.1:c.6473T>C p.Leu2158Ser p.L2158S ENST00000552810 NM_025114.3 2158 tTg/tCg 0 Missense_Mutation A 5 CEP290 SNP 12 A G 86978787 86978787 WashU LDB3 11155 genome.wustl.edu GRCh37 10 88451686 88451686 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000429277.2:c.927C>T p.Ser309= p.S309= ENST00000429277 NM_001171610.1 309 agC/agT 0 Silent C 27 LDB3 SNP 10 C T 88441666 88441666 WashU MAN2A2 4122 genome.wustl.edu GRCh37 15 91450062 91450062 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000360468.3:c.928C>G p.Leu310Val p.L310V ENST00000360468 NM_006122.2 310 Ctg/Gtg 0 Missense_Mutation C 28 MAN2A2 SNP 15 C G 89251066 89251066 WashU IGKV2-28 28944 genome.wustl.edu GRCh37 2 89521419 89521419 + synonymous_variant Silent SNP G G T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000482769.1:c.120C>A p.Ser40= p.S40= ENST00000482769 40 tcC/tcA 0 Silent G 47 IGKV1-5 SNP 2 G T 89302534 89302534 WashU PTEN 5728 genome.wustl.edu GRCh37 10 89711905 89711905 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371953.3:c.523G>T p.Val175Leu p.V175L ENST00000371953 NM_000314.4 175 Gtg/Ttg 0 Missense_Mutation G 48 PTEN SNP 10 G T 89701885 89701885 WashU KRIT1 889 genome.wustl.edu GRCh37 7 91843286 91843286 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394507.1:c.1738A>G p.Asn580Asp p.N580D ENST00000394507 NM_194456.1 580 Aat/Gat 0 Missense_Mutation T 64 KRIT1 SNP 7 T C 91681222 91681222 WashU SNRPD2P1 genome.wustl.edu GRCh37 10 91738529 91738529 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000489253.1:n.56G>A *19* ENST00000489253 0 Missense_Mutation G 37 LOC119358 SNP 10 G A 91728509 91728509 WashU TGFBR3 7049 genome.wustl.edu GRCh37 1 92163675 92163675 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000212355.4:c.2300G>C p.Ser767Thr p.S767T ENST00000212355 NM_001195683.1 767 aGc/aCc 0 Missense_Mutation C 28 TGFBR3 SNP 1 C G 91936263 91936263 WashU CYP2C9 1559 genome.wustl.edu GRCh37 10 96731980 96731980 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260682.6:c.939G>A p.Leu313= p.L313= ENST00000260682 NM_000771.3 313 ctG/ctA 0 Silent G 46 CYP2C9 SNP 10 G A 96721970 96721970 WashU EPHA6 285220 genome.wustl.edu GRCh37 3 96706221 96706221 + synonymous_variant Silent SNP A A G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389672.5:c.498A>G p.Thr166= p.T166= ENST00000389672 NM_001080448.2 166 acA/acG 0 Silent A 8 EPHA6 SNP 3 A G 98188911 98188911 WashU SLIT1 6585 genome.wustl.edu GRCh37 10 98824632 98824632 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000266058.4:c.487C>G p.Gln163Glu p.Q163E ENST00000266058 NM_003061.2 163 Cag/Gag 0 Missense_Mutation G 48 SLIT1 SNP 10 G C 98814622 98814622 WashU BHLHB9 80823 genome.wustl.edu GRCh37 X 102004627 102004627 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372735.1:c.704C>G p.Ser235Cys p.S235C ENST00000372735 235 tCc/tGc 0 Missense_Mutation C 30 BHLHB9 SNP 23 C G 101891283 101891283 WashU MMP8 4317 genome.wustl.edu GRCh37 11 102587060 102587060 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000236826.3:c.875G>T p.Arg292Leu p.R292L ENST00000236826 NM_002424.2 292 cGt/cTt 0 Missense_Mutation C 19 MMP8 SNP 11 C A 102092270 102092270 WashU ZNF189 7743 genome.wustl.edu GRCh37 9 104170971 104170971 + synonymous_variant Silent SNP A A G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339664.2:c.921A>G p.Gln307= p.Q307= ENST00000339664 NM_001278240.1 307 caA/caG 0 Silent A 1 ZNF189 SNP 9 A G 103210792 103210792 WashU NFKB1 4790 genome.wustl.edu GRCh37 4 103459065 103459065 + synonymous_variant Silent SNP A A G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000226574.4:c.210A>G p.Leu70= p.L70= ENST00000226574 NM_003998.3 70 ctA/ctG 0 Silent A 14 NFKB1 SNP 4 A G 103678093 103678093 WashU TAF5 6877 genome.wustl.edu GRCh37 10 105143003 105143003 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369839.3:c.1543C>G p.Leu515Val p.L515V ENST00000369839 NM_006951.3 515 Ctt/Gtt 0 Missense_Mutation C 32 TAF5 SNP 10 C G 105132993 105132993 WashU PREP 5550 genome.wustl.edu GRCh37 6 105771645 105771645 + splice_acceptor_variant Splice_Site SNP T T G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369110.3:c.1214-2A>C p.X405_splice ENST00000369110 NM_002726.4 0 Splice_Site_SNP T 53 PREP SNP 6 T G 105878338 105878338 WashU FRMPD3 84443 genome.wustl.edu GRCh37 X 106769888 106769888 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276185.4:c.169G>A p.Val57Ile p.V57I ENST00000276185 57 Gtt/Att 0 Missense_Mutation G 40 FRMPD3 SNP 23 G A 106656544 106656544 WashU COL4A5 1287 genome.wustl.edu GRCh37 X 107939571 107939571 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328300.6:c.5039G>A p.Arg1680Gln p.R1680Q ENST00000328300 NM_033380.2 1680 cGa/cAa 0 Missense_Mutation G 37 COL4A5 SNP 23 G A 107826227 107826227 WashU ACACB 32 genome.wustl.edu GRCh37 12 109654455 109654455 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338432.7:c.3383C>G p.Thr1128Arg p.T1128R ENST00000338432 1128 aCa/aGa 0 Missense_Mutation C 17 ACACB SNP 12 C G 108138838 108138838 WashU LRIF1 55791 genome.wustl.edu GRCh37 1 111490745 111490745 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369763.4:c.2146C>G p.Gln716Glu p.Q716E ENST00000369763 NM_018372.3 716 Caa/Gaa 0 Missense_Mutation G 48 C1orf103 SNP 1 G C 111292268 111292268 WashU PALM2AKAP2 445815 genome.wustl.edu GRCh37 9 112705412 112705412 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314527.4:c.943A>G p.Met315Val p.M315V ENST00000314527 NM_053016.5 315 Atg/Gtg 0 Missense_Mutation A 16 PALM2 SNP 9 A G 111745233 111745233 WashU SLC9C1 285335 genome.wustl.edu GRCh37 3 111988838 111988838 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000305815.5:c.700A>T p.Met234Leu p.M234L ENST00000305815 NM_183061.1 234 Atg/Ttg 0 Missense_Mutation T 50 SLC9A10 SNP 3 T A 113471528 113471528 WashU CCDC80 151887 genome.wustl.edu GRCh37 3 112349029 112349029 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000206423.3:c.1966A>C p.Lys656Gln p.K656Q ENST00000206423 NM_199512.1 656 Aaa/Caa 0 Missense_Mutation T 62 CCDC80 SNP 3 T G 113831719 113831719 WashU AQPEP 206338 genome.wustl.edu GRCh37 5 115298443 115298443 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357872.4:c.129C>T p.Val43= p.V43= ENST00000357872 NM_173800.4 43 gtC/gtT 0 Silent C 30 LVRN SNP 5 C T 115326342 115326342 WashU MARCO 8685 genome.wustl.edu GRCh37 2 119729103 119729103 + synonymous_variant Silent SNP C C G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327097.4:c.453C>G p.Gly151= p.G151= ENST00000327097 NM_006770.3 151 ggC/ggG 0 Silent C 27 MARCO SNP 2 C G 119445573 119445573 WashU MAL2 114569 genome.wustl.edu GRCh37 8 120252479 120252479 + synonymous_variant Silent SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276681.6:c.378G>C p.Leu126= p.L126= ENST00000276681 NM_052886.2 126 ctG/ctC 0 Missense_Mutation G 46 MAL2 SNP 8 G C 120321660 120321660 WashU POGLUT1 56983 genome.wustl.edu GRCh37 3 119205679 119205679 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295588.4:c.639-1G>C p.X213_splice ENST00000295588 NM_152305.2 0 Splice_Site_SNP G 35 KTELC1 SNP 3 G C 120688369 120688369 WashU TBC1D32 221322 genome.wustl.edu GRCh37 6 121401919 121401919 + stop_lost Nonstop_Mutation SNP A A T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398212.2:c.3772T>A p.Ter1258LysextTer? p.*1258Kext*? ENST00000398212 NM_152730.4 1258 Tag/Aag 0 Nonstop_Mutation A 16 C6orf170 SNP 6 A T 121443618 121443618 WashU KNTC1 9735 genome.wustl.edu GRCh37 12 123052819 123052819 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333479.7:c.1616G>T p.Trp539Leu p.W539L ENST00000333479 NM_014708.4 539 tGg/tTg 0 Missense_Mutation G 47 KNTC1 SNP 12 G T 121618772 121618772 WashU BRI3BP 140707 genome.wustl.edu GRCh37 12 125497110 125497110 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341446.8:c.244C>A p.Leu82Met p.L82M ENST00000341446 NM_080626.5 82 Ctg/Atg 0 Missense_Mutation C 28 BRI3BP SNP 12 C A 124063063 124063063 WashU GAPVD1 26130 genome.wustl.edu GRCh37 9 128083728 128083728 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394105.2:c.1619T>G p.Leu540Arg p.L540R ENST00000394105 NM_015635.2 540 cTt/cGt 0 Missense_Mutation T 56 GAPVD1 SNP 9 T G 127123549 127123549 WashU TSGA13 114960 genome.wustl.edu GRCh37 7 130368492 130368492 + synonymous_variant Silent SNP T T G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000456951.1:c.42A>C p.Ser14= p.S14= ENST00000456951 14 tcA/tcC 0 Silent T 63 TSGA13 SNP 7 T G 130019032 130019032 WashU RALGDS 5900 genome.wustl.edu GRCh37 9 135985878 135985878 + splice_acceptor_variant Splice_Site SNP T T C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372050.3:c.295-2A>G p.X99_splice ENST00000372050 NM_006266.3 0 Splice_Site_SNP T 55 RALGDS SNP 9 C C 134975699 134975699 WashU KY 339855 genome.wustl.edu GRCh37 3 134322972 134322972 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000423778.2:c.1435C>T p.Arg479Cys p.R479C ENST00000423778 NM_178554.4 479 Cgc/Tgc 0 Missense_Mutation G 38 KY SNP 3 G A 135805662 135805662 WashU EGR1 1958 genome.wustl.edu GRCh37 5 137803097 137803097 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000239938.4:c.959G>A p.Arg320His p.R320H ENST00000239938 NM_001964.2 320 cGc/cAc 0 Missense_Mutation G 38 EGR1 SNP 5 A A 137830996 137830996 WashU LRP1B 53353 genome.wustl.edu GRCh37 2 141081489 141081490 + missense_variant Missense_Mutation DNP TC TC CT novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 TC TC TC CT TC TC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389484.3:c.12486_12487delinsAG p.Ile4163Val p.I4163V ENST00000389484 NM_018557.2 4162 ttGAta/ttAGta 0 Missense TC 50 LRP1B DNP 2 TC CT 140797960 140797959 WashU CTAGE15 441294 genome.wustl.edu GRCh37 7 143270356 143270356 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000420911.2:c.1446A>C p.Glu482Asp p.E482D ENST00000420911 NM_001008747.2 482 gaA/gaC 0 Missense_Mutation A 1 LOC441294 SNP 7 A C 142980478 142980478 WashU PLEC 5339 genome.wustl.edu GRCh37 8 144994084 144994084 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322810.4:c.10316G>T p.Arg3439Met p.R3439M ENST00000322810 NM_201380.2 3439 aGg/aTg 0 Missense_Mutation C 24 PLEC SNP 8 C A 145066072 145066072 WashU OTUD4 54726 genome.wustl.edu GRCh37 4 146058812 146058812 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000454497.2:c.2920T>G p.Ser974Ala p.S974A ENST00000454497 NM_001102653.1 974 Tcc/Gcc 0 Missense_Mutation A 12 OTUD4 SNP 4 A C 146278262 146278262 WashU FCGR1A 2209 genome.wustl.edu GRCh37 1 149761783 149761783 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369168.4:c.733T>C p.Tyr245His p.Y245H ENST00000369168 NM_000566.3 245 Tac/Cac 0 Missense_Mutation T 49 FCGR1A SNP 1 T C 148028407 148028407 WashU MTMR11 10903 genome.wustl.edu GRCh37 1 149907594 149907594 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000439741.2:c.147G>C p.Glu49Asp p.E49D ENST00000439741 NM_001145862.1 49 gaG/gaC 0 Missense_Mutation C 28 MTMR11 SNP 1 C G 148174218 148174218 WashU GIMAP6 474344 genome.wustl.edu GRCh37 7 150325052 150325052 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328902.5:c.634C>A p.Leu212Met p.L212M ENST00000328902 NM_024711.5 212 Ctg/Atg 0 Missense_Mutation G 36 GIMAP6 SNP 7 G T 149955985 149955985 WashU FAM50A 9130 genome.wustl.edu GRCh37 X 153674898 153674898 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393600.3:c.432G>A p.Met144Ile p.M144I ENST00000393600 NM_004699.3 144 atG/atA 0 Missense_Mutation G 47 FAM50A SNP 23 A A 153328092 153328092 WashU GON4L 54856 genome.wustl.edu GRCh37 1 155726842 155726842 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000437809.1:c.5424G>A p.Leu1808= p.L1808= ENST00000437809 1808 ctG/ctA 0 Silent C 25 GON4L SNP 1 C T 153993466 153993466 WashU NAF1 92345 genome.wustl.edu GRCh37 4 164050415 164050415 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274054.2:c.1119C>G p.Phe373Leu p.F373L ENST00000274054 NM_138386.2 373 ttC/ttG 0 Missense_Mutation G 45 NAF1 SNP 4 G C 164269865 164269865 WashU IRF2 3660 genome.wustl.edu GRCh37 4 185340638 185340638 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393593.3:c.172T>C p.Trp58Arg p.W58R ENST00000393593 NM_002199.3 58 Tgg/Cgg 0 Missense_Mutation A 7 IRF2 SNP 4 A G 185577632 185577632 WashU FAT1 2195 genome.wustl.edu GRCh37 4 187510335 187510335 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000441802.2:c.13178C>A p.Pro4393His p.P4393H ENST00000441802 NM_005245.3 4393 cCt/cAt 0 Missense_Mutation G 35 FAT1 SNP 4 G T 187747329 187747329 WashU COL6A3 1293 genome.wustl.edu GRCh37 2 238274340 238274340 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295550.4:c.5838+1G>T p.X1946_splice ENST00000295550 NM_004369.3 0 Splice_Site_SNP C 18 COL6A3 SNP 2 A A 237939079 237939079 WashU ZNF518B 85460 genome.wustl.edu GRCh37 4 10444765 10444783 + frameshift_variant Frame_Shift_Del DEL GTTGCTTCTATCAAATGCC GTTGCTTCTATCAAATGCC - novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 GTTGCTTCTATCAAATGCC GTTGCTTCTATCAAATGCC GTTGCTTCTATCAAATGCC - GTTGCTTCTATCAAATGCC GTTGCTTCTATCAAATGCC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326756.3:c.3170_3188del p.Arg1057LeufsTer14 p.R1057Lfs*14 ENST00000326756 NM_053042.2 1057 cGGCATTTGATAGAAGCAACt/ct 0 Frame_Shift_Del GTTGCTTCTATCAAATGCC 36 ZNF518B DEL 4 GTTGCTTCTATCAAATGCC - 10053881 10053863 WashU MGA 23269 genome.wustl.edu GRCh37 15 42041416 42041417 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000219905.7:c.5611_5612insA p.Val1871AspfsTer22 p.V1871Dfs*22 ENST00000219905 NM_001164273.1 1871 gtt/gAtt 0 Frame_Shift_Ins - 48 MGA INS 15 - A 39828709 39828708 WashU MAGEE2 139599 genome.wustl.edu GRCh37 X 75003492 75003503 + inframe_deletion In_Frame_Del DEL AAGCTCATATTC AAGCTCATATTC - novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 AAGCTCATATTC AAGCTCATATTC AAGCTCATATTC - AAGCTCATATTC AAGCTCATATTC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373359.2:c.1384_1395del p.Glu462_Leu465del p.E462_L465del ENST00000373359 NM_138703.4 462 GAATATGAGCTT/- 0 In_Frame_Del AAGCTCATATTC 9 MAGEE2 DEL 23 AAGCTCATATTC - 74920228 74920217 WashU LZTS2 84445 genome.wustl.edu GRCh37 10 102763681 102763683 + inframe_deletion In_Frame_Del DEL TCC TCC - novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 TCC TCC TCC - TCC TCC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370220.1:c.832_834del p.Ser279del p.S279del ENST00000370220 276 TCC/- 0 In_Frame_Del TCC 58 LZTS2 DEL 10 TCC - 102753673 102753671 WashU SLC6A17 388662 genome.wustl.edu GRCh37 1 110738246 110738257 + inframe_deletion In_Frame_Del DEL TTCGTCCAGCGC TTCGTCCAGCGC - novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 TTCGTCCAGCGC TTCGTCCAGCGC TTCGTCCAGCGC - TTCGTCCAGCGC TTCGTCCAGCGC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331565.4:c.1532_1543del p.Phe511_Arg514del p.F511_R514del ENST00000331565 NM_001010898.2 511 TTCGTCCAGCGC/- 0 In_Frame_Del TTCGTCCAGCGC 60 SLC6A17 DEL 1 TTCGTCCAGCGC - 110539780 110539769 WashU RPF2 84154 genome.wustl.edu GRCh37 6 111329322 111329330 + inframe_deletion In_Frame_Del DEL CTAAAAAGT CTAAAAAGT - novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 CTAAAAAGT CTAAAAAGT CTAAAAAGT - CTAAAAAGT CTAAAAAGT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000441448.2:c.477_485del p.Lys160_Leu162del p.K160_L162del ENST00000441448 NM_032194.1 159 CTAAAAAGT/- 0 In_Frame_Del CTAAAAAGT 20 RPF2 DEL 6 CTAAAAAGT - 111436023 111436015 WashU UBN2 254048 genome.wustl.edu GRCh37 7 138946183 138946184 + frameshift_variant Frame_Shift_Del DEL CA CA - novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 CA CA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000473989.3:c.1092_1093del p.Leu365GlyfsTer3 p.L365Gfs*3 ENST00000473989 NM_173569.3 364 gCA/g 0 Frame_Shift_Del CA 25 UBN2 DEL 7 CA - 138596724 138596723 WashU TP53 7157 genome.wustl.edu GRCh37 17 7579307 7579307 + splice_region_variant,intron_variant Splice_Region SNP C C G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C G C C Verified Valid Somatic Phase_III PCR 454_PCR_WGA dbGAP ABI 3730xl ENST00000269305.4:c.375+5G>C p.X125_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 20 TP53 SNP 17 C G 7520032 7520032 WashU LRRC71 149499 genome.wustl.edu GRCh37 1 156897421 156897421 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337428.7:c.796G>A p.Asp266Asn p.D266N ENST00000337428 NM_144702.2 266 Gac/Aac 0 Missense_Mutation G 45 C1orf92 SNP 1 G A 155164045 155164045 WashU CALHM1 255022 genome.wustl.edu GRCh37 10 105218165 105218165 + missense_variant Missense_Mutation SNP A A C Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A C A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000329905.5:c.344T>G p.Val115Gly p.V115G ENST00000329905 NM_001001412.3 115 gTg/gGg 0 Missense_Mutation A 6 CALHM1 SNP 10 A C 105208155 105208155 WashU CREB3L1 90993 genome.wustl.edu GRCh37 11 46337937 46337937 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000529193.1:c.1131+1G>T p.X377_splice ENST00000529193 NM_052854.3 0 Splice_Site_SNP G 44 CREB3L1 SNP 11 G T 46294513 46294513 WashU OR52B1P genome.wustl.edu GRCh37 11 6173522 6173522 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316506.1:c.297C>T p.His99= p.H99= ENST00000316506 99 caC/caT 0 Silent G 40 ENSG00000180909 SNP 11 A A 6130098 6130098 WashU SLC22A11 55867 genome.wustl.edu GRCh37 11 64323798 64323798 + synonymous_variant Silent SNP C C T Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000301891.4:c.327C>T p.Asp109= p.D109= ENST00000301891 NM_018484.2 109 gaC/gaT 0 Silent C 17 SLC22A11 SNP 11 C T 64080374 64080374 WashU SH2B3 10019 genome.wustl.edu GRCh37 12 111885191 111885191 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341259.2:c.1079C>G p.Ser360Cys p.S360C ENST00000341259 NM_005475.2 360 tCc/tGc 0 Missense_Mutation C 30 SH2B3 SNP 12 C G 110369574 110369574 WashU PPFIA2 8499 genome.wustl.edu GRCh37 12 81747071 81747071 + synonymous_variant Silent SNP T T A novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000549396.1:c.1821A>T p.Gly607= p.G607= ENST00000549396 NM_003625.3 607 ggA/ggT 0 Silent T 54 PPFIA2 SNP 12 T A 80271202 80271202 WashU TPTE2 93492 genome.wustl.edu GRCh37 13 20056660 20056660 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400230.2:c.147A>C p.Glu49Asp p.E49D ENST00000400230 49 gaA/gaC 0 Missense_Mutation T 56 TPTE2 SNP 13 T G 18954660 18954660 WashU RFXAP 5994 genome.wustl.edu GRCh37 13 37394092 37394092 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G T Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000255476.2:c.598G>T p.Glu200Ter p.E200* ENST00000255476 NM_000538.3 200 Gag/Tag 0 Nonsense_Mutation G 37 RFXAP SNP 13 G T 36292092 36292092 WashU CLEC14A 161198 genome.wustl.edu GRCh37 14 38723783 38723783 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342213.2:c.1445A>G p.Glu482Gly p.E482G ENST00000342213 NM_175060.2 482 gAg/gGg 0 Missense_Mutation T 54 CLEC14A SNP 14 T C 37793534 37793534 WashU SALL1 6299 genome.wustl.edu GRCh37 16 51174403 51174403 + missense_variant Missense_Mutation SNP G G T Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000251020.4:c.1730C>A p.Pro577His p.P577H ENST00000251020 NM_002968.2 577 cCc/cAc 0 Missense_Mutation G 43 SALL1 SNP 16 G T 49731904 49731904 WashU KIF18B 146909 genome.wustl.edu GRCh37 17 43011389 43011389 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000593135.1:c.964A>G p.Thr322Ala p.T322A ENST00000593135 NM_001265577.1 322 Aca/Gca 0 Missense_Mutation T 59 KIF18B SNP 17 C C 40366915 40366915 WashU PLCD4 84812 genome.wustl.edu GRCh37 2 219496889 219496889 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000450993.2:c.1303A>G p.Lys435Glu p.K435E ENST00000450993 NM_032726.3 435 Aag/Gag 0 Missense_Mutation A 9 PLCD4 SNP 2 A G 219205133 219205133 WashU MLPH 79083 genome.wustl.edu GRCh37 2 238449122 238449122 + missense_variant Missense_Mutation SNP G G C Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000264605.3:c.1236G>C p.Lys412Asn p.K412N ENST00000264605 NM_024101.6 412 aaG/aaC 0 Missense_Mutation G 35 MLPH SNP 2 G C 238113861 238113861 WashU PARP9 83666 genome.wustl.edu GRCh37 3 122277231 122277231 + synonymous_variant Silent SNP G G T Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000360356.2:c.99C>A p.Ile33= p.I33= ENST00000360356 NM_001146102.1 33 atC/atA 0 Silent G 33 PARP9 SNP 3 G T 123759921 123759921 WashU MED12L 116931 genome.wustl.edu GRCh37 3 151067973 151067973 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000474524.1:c.2272A>G p.Lys758Glu p.K758E ENST00000474524 NM_053002.4 758 Aag/Gag 0 Missense_Mutation A 9 MED12L SNP 3 A G 152550663 152550663 WashU GFRA3 2676 genome.wustl.edu GRCh37 5 137593528 137593528 + synonymous_variant Silent SNP G G C Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000274721.3:c.585C>G p.Val195= p.V195= ENST00000274721 NM_001496.3 195 gtC/gtG 0 Silent G 33 GFRA3 SNP 5 G C 137621427 137621427 WashU RUFY1 80230 genome.wustl.edu GRCh37 5 179016625 179016625 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319449.4:c.1105G>C p.Glu369Gln p.E369Q ENST00000319449 NM_025158.4 369 Gaa/Caa 0 Missense_Mutation G 33 RUFY1 SNP 5 G C 178949231 178949231 WashU RREB1 6239 genome.wustl.edu GRCh37 6 7231751 7231751 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379938.2:c.3419C>T p.Ser1140Phe p.S1140F ENST00000379938 NM_001003700.1 1140 tCt/tTt 0 Missense_Mutation C 32 RREB1 SNP 6 C T 7176750 7176750 WashU GNB2 2783 genome.wustl.edu GRCh37 7 100275154 100275154 + missense_variant Missense_Mutation SNP A A G Unknown TCGA-10-0930-01 TCGA-10-0930-11 A A A G A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000303210.4:c.301A>G p.Met101Val p.M101V ENST00000303210 NM_005273.3 101 Atg/Gtg 0 Missense_Mutation A 4 GNB2 SNP 7 A G 100113090 100113090 WashU CBX3 11335 genome.wustl.edu GRCh37 7 26242620 26242620 + start_lost Translation_Start_Site SNP T T G novel Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337620.4:c.2T>G p.Met1? p.M1? ENST00000337620 NM_007276.4 1 aTg/aGg 0 Missense_Mutation T 51 CBX3 SNP 7 T G 26209145 26209145 WashU ALPK2 115701 genome.wustl.edu GRCh37 18 56205396 56205396 + missense_variant Missense_Mutation SNP C C G Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C G C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000361673.3:c.2023G>C p.Glu675Gln p.E675Q ENST00000361673 NM_052947.3 675 Gag/Cag 0 Missense_Mutation C 32 ALPK2 SNP 18 C G 54356376 54356376 WashU ANO8 57719 genome.wustl.edu GRCh37 19 17438567 17438567 + synonymous_variant Silent SNP G G A Unknown TCGA-10-0930-01 TCGA-10-0930-11 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000159087.4:c.2349C>T p.Asp783= p.D783= ENST00000159087 NM_020959.2 783 gaC/gaT 0 Silent G 40 ANO8 SNP 19 G A 17299567 17299567 WashU APCDD1L 164284 genome.wustl.edu GRCh37 20 57045705 57045705 + missense_variant Missense_Mutation SNP T T C Unknown TCGA-10-0930-01 TCGA-10-0930-11 T T T C T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000371149.3:c.148A>G p.Ile50Val p.I50V ENST00000371149 NM_153360.1 50 Atc/Gtc 0 Missense_Mutation T 50 APCDD1L SNP 20 T C 56479111 56479111 WashU SGSM1 129049 genome.wustl.edu GRCh37 22 25243735 25243735 + stop_gained Nonsense_Mutation SNP C C T Unknown TCGA-10-0930-01 TCGA-10-0930-11 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000400359.4:c.274C>T p.Gln92Ter p.Q92* ENST00000400359 NM_133454.2 92 Caa/Taa 0 Nonsense_Mutation C 25 SGSM1 SNP 22 C T 23573735 23573735 WashU IFI44 10561 broad.mit.edu GRCh37 1 79116109 79116109 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000370747.4:c.229A>G p.Ile77Val p.I77V ENST00000370747 NM_006417.4 77 Atc/Gtc 0 Missense_Mutation A 8 IFI44 SNP 1 A G 78888697 78888697 Broad KCNA3 3738 broad.mit.edu GRCh37 1 111216396 111216396 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000369769.2:c.1036G>A p.Glu346Lys p.E346K ENST00000369769 NM_002232.3 346 Gag/Aag 0 Missense_Mutation C 31 KCNA3 SNP 1 C T 111017919 111017919 Broad IQGAP3 128239 broad.mit.edu GRCh37 1 156503658 156503658 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000361170.2:c.3883G>T p.Glu1295Ter p.E1295* ENST00000361170 NM_178229.4 1295 Gag/Tag 0 Nonsense_Mutation C 30 IQGAP3 SNP 1 C A 154770282 154770282 Broad SEC16B 89866 broad.mit.edu GRCh37 1 177917070 177917070 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000308284.6:c.1553G>C p.Gly518Ala p.G518A ENST00000308284 NM_033127.2 518 gGa/gCa 0 Missense_Mutation C 30 SEC16B SNP 1 C G 176183693 176183693 Broad GFRA1 2674 broad.mit.edu GRCh37 10 117971142 117971142 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000355422.6:c.433+1G>T p.X145_splice ENST00000355422 NM_005264.4 0 Splice_Site_SNP C 18 GFRA1 SNP 10 C A 117961132 117961132 Broad EDRF1 26098 broad.mit.edu GRCh37 10 127414256 127414256 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000356792.4:c.641A>G p.Asn214Ser p.N214S ENST00000356792 NM_001202438.1 214 aAt/aGt 0 Missense_Mutation A 4 C10orf137 SNP 10 A G 127404246 127404246 Broad EDRF1 26098 broad.mit.edu GRCh37 10 127436444 127436444 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000356792.4:c.2986G>T p.Val996Phe p.V996F ENST00000356792 NM_001202438.1 996 Gtc/Ttc 0 Missense_Mutation G 36 C10orf137 SNP 10 G T 127426434 127426434 Broad PTPN5 84867 broad.mit.edu GRCh37 11 18754173 18754173 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000358540.2:c.1295C>T p.Thr432Met p.T432M ENST00000358540 NM_006906.1 432 aCg/aTg 0 Missense_Mutation G 40 PTPN5 SNP 11 G A 18710749 18710749 Broad FOLH1B 219595 broad.mit.edu GRCh37 11 89409338 89409338 + splice_donor_variant,non_coding_transcript_variant Splice_Site SNP T T A novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000525540.1:n.974+2T>A p.X325_splice ENST00000525540 0 Splice_Site_SNP T 59 FOLH1B SNP 11 T A 89048986 89048986 Broad CASP1 834 broad.mit.edu GRCh37 11 104901070 104901070 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000533400.1:c.614A>T p.Asn205Ile p.N205I ENST00000533400 NM_001257118.1 205 aAt/aTt 0 Missense_Mutation T 52 CASP1 SNP 11 T A 104406280 104406280 Broad KRT72 140807 broad.mit.edu GRCh37 12 52981578 52981578 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000293745.2:c.1147A>C p.Lys383Gln p.K383Q ENST00000293745 NM_080747.2 383 Aaa/Caa 0 Missense_Mutation T 62 KRT72 SNP 12 T G 51267845 51267845 Broad NR1H4 9971 broad.mit.edu GRCh37 12 100904651 100904652 + missense_variant Missense_Mutation DNP CC CC AA novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000551379.1:c.205_206delinsAA p.Pro69Lys p.P69K ENST00000551379 69 CCa/AAa 0 Missense_Mutation CC 18 NR1H4 DNP 12 CC AA 99428783 99428782 Broad ERCC5 2073 broad.mit.edu GRCh37 13 103504612 103504612 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000355739.4:c.233G>T p.Gly78Val p.G78V ENST00000355739 NM_000123.3 78 gGg/gTg 0 Missense_Mutation G 43 ERCC5 SNP 13 G T 102302613 102302613 Broad SERPINA10 51156 broad.mit.edu GRCh37 14 94756388 94756388 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000393096.1:c.543A>C p.Leu181Phe p.L181F ENST00000393096 NM_016186.2 181 ttA/ttC 0 Missense_Mutation T 49 SERPINA10 SNP 14 T G 93826141 93826141 Broad AHNAK2 113146 broad.mit.edu GRCh37 14 105418758 105418758 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000333244.5:c.3030A>G p.Val1010= p.V1010= ENST00000333244 NM_138420.2 1010 gtA/gtG 0 Silent T 49 AHNAK2 SNP 14 T C 104489803 104489803 Broad ZNF48 197407 broad.mit.edu GRCh37 16 30409787 30409787 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000320159.2:c.1216C>G p.Leu406Val p.L406V ENST00000320159 NM_152652.2 406 Ctg/Gtg 0 Missense_Mutation C 32 ZNF48 SNP 16 C G 30317288 30317288 Broad CES5A 221223 broad.mit.edu GRCh37 16 55907868 55907868 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000521992.1:c.242T>C p.Val81Ala p.V81A ENST00000521992 NM_001190158.1 81 gTg/gCg 0 Missense_Mutation A 6 CES7 SNP 16 A G 54465369 54465369 Broad CHRNB1 1140 broad.mit.edu GRCh37 17 7358630 7358630 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000306071.2:c.1072C>T p.Leu358= p.L358= ENST00000306071 NM_000747.2 358 Ctg/Ttg 0 Silent C 24 CHRNB1 SNP 17 C T 7299354 7299354 Broad NF1 4763 broad.mit.edu GRCh37 17 29654836 29654836 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000358273.4:c.5588G>C p.Gly1863Ala p.G1863A ENST00000358273 NM_001042492.2 1863 gGc/gCc 0 Missense_Mutation G 42 NF1 SNP 17 G C 26678962 26678962 Broad WNK4 65266 broad.mit.edu GRCh37 17 40947736 40947736 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000246914.5:c.3116C>G p.Ser1039Cys p.S1039C ENST00000246914 NM_032387.4 1039 tCt/tGt 0 Missense_Mutation C 32 WNK4 SNP 17 C G 38201262 38201262 Broad LPIN2 9663 broad.mit.edu GRCh37 18 2951130 2951130 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000261596.4:c.513G>C p.Gln171His p.Q171H ENST00000261596 NM_014646.2 171 caG/caC 0 Missense_Mutation C 24 LPIN2 SNP 18 C G 2941130 2941130 Broad PRX 57716 broad.mit.edu GRCh37 19 40901791 40901791 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000324001.7:c.2468C>T p.Ala823Val p.A823V ENST00000324001 NM_181882.2 823 gCg/gTg 0 Missense_Mutation G 38 PRX SNP 19 G A 45593631 45593631 Broad SIGLEC12 89858 broad.mit.edu GRCh37 19 52003577 52003577 + intron_variant Intron SNP C C A novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000291707.3:c.428-23G>T *143* ENST00000291707 NM_053003.2 0 Missense_Mutation C 22 SIGLEC12 SNP 19 C A 56695389 56695389 Broad NLRP11 204801 broad.mit.edu GRCh37 19 56303709 56303709 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000443188.1:c.2471C>T p.Thr824Met p.T824M ENST00000443188 NM_145007.3 824 aCg/aTg 0 Missense_Mutation G 40 NLRP11 SNP 19 G A 60995521 60995521 Broad ANTXR1 84168 broad.mit.edu GRCh37 2 69297801 69297801 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000303714.4:c.319G>C p.Glu107Gln p.E107Q ENST00000303714 NM_032208.2 107 Gaa/Caa 0 Missense_Mutation G 33 ANTXR1 SNP 2 G C 69151305 69151305 Broad ZAP70 7535 broad.mit.edu GRCh37 2 98351001 98351001 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264972.5:c.908A>G p.Asp303Gly p.D303G ENST00000264972 NM_001079.3 303 gAc/gGc 0 Missense_Mutation A 10 ZAP70 SNP 2 A G 97717433 97717433 Broad SF3B1 23451 broad.mit.edu GRCh37 2 198257819 198257819 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000335508.6:c.3633G>A p.Leu1211= p.L1211= ENST00000335508 NM_012433.2 1211 ttG/ttA 0 Silent C 17 SF3B1 SNP 2 C T 197966064 197966064 Broad SH3BP4 23677 broad.mit.edu GRCh37 2 235951181 235951181 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000409212.1:c.1768C>T p.Arg590Trp p.R590W ENST00000409212 590 Cgg/Tgg 0 Missense_Mutation C 27 SH3BP4 SNP 2 C T 235615920 235615920 Broad PPP6R2 9701 broad.mit.edu GRCh37 22 50857872 50857872 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000395741.3:c.829C>T p.Leu277= p.L277= ENST00000395741 277 Ctg/Ttg 0 Silent C 28 PPP6R2 SNP 22 C T 49204738 49204738 Broad DNAH1 25981 broad.mit.edu GRCh37 3 52357823 52357823 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000420323.2:c.334-1G>A p.X112_splice ENST00000420323 NM_015512.4 0 Splice_Site_SNP G 35 DNAH1 SNP 3 G A 52332863 52332863 Broad ARGFX 503582 broad.mit.edu GRCh37 3 121304901 121304901 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000334384.3:c.402G>T p.Lys134Asn p.K134N ENST00000334384 NM_001012659.1 134 aaG/aaT 0 Missense_Mutation G 33 ARGFX SNP 3 G T 122787591 122787591 Broad ANXA5 308 broad.mit.edu GRCh37 4 122592792 122592792 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000296511.5:c.631G>C p.Asp211His p.D211H ENST00000296511 NM_001154.3 211 Gac/Cac 0 Missense_Mutation C 29 ANXA5 SNP 4 C G 122812242 122812242 Broad BAG6 7917 broad.mit.edu GRCh37 6 31607358 31607358 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000375964.6:c.3222C>T p.Ala1074= p.A1074= ENST00000375964 NM_004639.3 1074 gcC/gcT 0 Silent G 39 BAT3 SNP 6 G A 31715337 31715337 Broad RXRB 6257 broad.mit.edu GRCh37 6 33165606 33165606 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000374685.4:c.753G>A p.Lys251= p.K251= ENST00000374685 251 aaG/aaA 0 Silent C 28 RXRB SNP 6 C T 33273584 33273584 Broad EFHC1 114327 broad.mit.edu GRCh37 6 52329846 52329846 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000371068.5:c.1070A>C p.Glu357Ala p.E357A ENST00000371068 NM_018100.3 357 gAg/gCg 0 Missense_Mutation A 11 EFHC1 SNP 6 A C 52437805 52437805 Broad RIMS1 22999 broad.mit.edu GRCh37 6 73108726 73108726 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000521978.1:c.4790G>A p.Arg1597Gln p.R1597Q ENST00000521978 NM_014989.5 1597 cGa/cAa 0 Missense_Mutation G 37 RIMS1 SNP 6 G A 73165447 73165447 Broad GRIK2 2898 broad.mit.edu GRCh37 6 102483297 102483297 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000421544.1:c.2167G>A p.Glu723Lys p.E723K ENST00000421544 NM_021956.4 723 Gaa/Aaa 0 Missense_Mutation G 33 GRIK2 SNP 6 G A 102589990 102589990 Broad HACE1 57531 broad.mit.edu GRCh37 6 105280966 105280966 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000262903.4:c.485C>T p.Ala162Val p.A162V ENST00000262903 NM_020771.3 162 gCc/gTc 0 Missense_Mutation G 42 HACE1 SNP 6 G A 105387659 105387659 Broad SBDS 51119 broad.mit.edu GRCh37 7 66456236 66456236 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000246868.2:c.512A>T p.His171Leu p.H171L ENST00000246868 NM_016038.2 171 cAc/cTc 0 Missense_Mutation T 59 SBDS SNP 7 T A 66093671 66093671 Broad ATP5J2 9551 broad.mit.edu GRCh37 7 99057761 99057761 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000292475.3:c.87G>C p.Trp29Cys p.W29C ENST00000292475 NM_004889.3 29 tgG/tgC 0 Missense_Mutation C 30 ATP5J2 SNP 7 C G 98895697 98895697 Broad GPR37 2861 broad.mit.edu GRCh37 7 124404008 124404008 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000303921.2:c.1023G>C p.Glu341Asp p.E341D ENST00000303921 NM_005302.3 341 gaG/gaC 0 Missense_Mutation C 24 GPR37 SNP 7 C G 124191244 124191244 Broad KIAA1147 57189 broad.mit.edu GRCh37 7 141363999 141363999 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000536163.1:c.1145A>G p.Asn382Ser p.N382S ENST00000536163 NM_001080392.1 382 aAc/aGc 0 Missense_Mutation T 60 KIAA1147 SNP 7 T C 141010468 141010468 Broad COL22A1 169044 broad.mit.edu GRCh37 8 139697506 139697506 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1027-01 TCGA-23-1027-10 Unknown Unknown Unknown x x x ENST00000303045.6:c.2912A>G p.Asp971Gly p.D971G ENST00000303045 NM_152888.1 971 gAt/gGt 0 Missense_Mutation T 50 COL22A1 SNP 8 T C 139766688 139766688 Broad SRRM1 10250 genome.wustl.edu GRCh37 1 24978036 24978036 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000323848.9:c.658A>G p.Thr220Ala p.T220A ENST00000323848 NM_005839.3 220 Act/Gct 0 Missense_Mutation A 2 SRRM1 SNP 1 A G 24850623 24850623 WashU TTN 7273 genome.wustl.edu GRCh37 2 179482108 179482110 + inframe_deletion In_Frame_Del DEL CTT CTT - novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 CTT CTT CTT - CTT CTT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.47702_47704del p.Glu15901del p.E15901del ENST00000589042 NM_001267550.1 15901 gAAGga/gga 0 In_Frame_Del CTT 24 TTN DEL 2 CTT - 179190355 179190353 WashU LHCGR 3973 genome.wustl.edu GRCh37 2 48915353 48915353 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000294954.7:c.1583T>C p.Ile528Thr p.I528T ENST00000294954 NM_000233.3 528 aTa/aCa 0 Missense_Mutation A 16 LHCGR SNP 2 A G 48768857 48768857 WashU GRB14 2888 genome.wustl.edu GRCh37 2 165404236 165404236 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000263915.3:c.415C>T p.Leu139= p.L139= ENST00000263915 NM_004490.2 139 Ctg/Ttg 0 Silent G 35 GRB14 SNP 2 A G 165112482 165112482 WashU DAPK1 1612 genome.wustl.edu GRCh37 9 90312052 90312052 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000408954.3:c.2544C>T p.Ile848= p.I848= ENST00000408954 NM_004938.2 848 atC/atT 0 Silent C 30 DAPK1 SNP 9 C T 89501872 89501872 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578235 7578235 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 T T T C T T Verified Valid Somatic Phase_III PCR 454_PCR_WGA dbGAP ABI 3730xl ENST00000269305.4:c.614A>G p.Tyr205Cys p.Y205C ENST00000269305 NM_001126112.2 205 tAt/tGt 0 Missense_Mutation T 49 TP53 SNP 17 T C 7518960 7518960 WashU CDK12 51755 genome.wustl.edu GRCh37 17 37667817 37667817 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 A A A G A A Verified Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000447079.4:c.2702A>G p.Tyr901Cys p.Y901C ENST00000447079 NM_015083.1 901 tAc/tGc 0 Missense_Mutation A 14 CDK12 SNP 17 A G 34921343 34921343 WashU MUC16 94025 genome.wustl.edu GRCh37 19 9075296 9075296 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 T T A T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000397910.4:c.12150A>T p.Glu4050Asp p.E4050D ENST00000397910 NM_024690.2 4050 gaA/gaT 0 Missense_Mutation T 64 MUC16 SNP 19 A T 8936296 8936296 WashU ZNF675 171392 genome.wustl.edu GRCh37 19 23837047 23837047 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000359788.4:c.688T>C p.Cys230Arg p.C230R ENST00000359788 NM_138330.2 230 Tgt/Cgt 0 Missense_Mutation A 8 ZNF675 SNP 19 A G 23628887 23628887 WashU CFHR4 10877 genome.wustl.edu GRCh37 1 196871732 196871732 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367416.2:c.240G>A p.Thr80= p.T80= ENST00000367416 NM_001201551.1 80 acG/acA 0 Silent G 39 CFHR4 SNP 1 G A 195138355 195138355 WashU RNF220 55182 genome.wustl.edu GRCh37 1 44878304 44878304 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355387.2:c.535G>A p.Val179Ile p.V179I ENST00000355387 179 Gtt/Att 0 Missense_Mutation G 44 RNF220 SNP 1 G A 44650891 44650891 WashU CAMK1D 57118 genome.wustl.edu GRCh37 10 12858300 12858300 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378847.3:c.806C>T p.Thr269Met p.T269M ENST00000378847 NM_153498.2 269 aCg/aTg 0 Missense_Mutation C 19 CAMK1D SNP 10 C T 12898306 12898306 WashU PTPN5 84867 genome.wustl.edu GRCh37 11 18751412 18751412 + intron_variant Intron SNP A A T novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358540.2:c.1330-47T>A *444* ENST00000358540 NM_006906.1 0 Missense_Mutation A 7 PTPN5 SNP 11 A T 18707988 18707988 WashU FIBP 9158 genome.wustl.edu GRCh37 11 65651944 65651944 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338369.2:c.944G>A p.Arg315His p.R315H ENST00000338369 NM_198897.1 315 cGc/cAc 0 Missense_Mutation C 27 FIBP SNP 11 C T 65408520 65408520 WashU PYROXD1 79912 genome.wustl.edu GRCh37 12 21615759 21615759 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000240651.9:c.1079G>C p.Cys360Ser p.C360S ENST00000240651 NM_024854.3 360 tGt/tCt 0 Missense_Mutation G 48 PYROXD1 SNP 12 G C 21507026 21507026 WashU KIF21A 55605 genome.wustl.edu GRCh37 12 39695437 39695437 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361418.5:c.4776G>T p.Val1592= p.V1592= ENST00000361418 1592 gtG/gtT 0 Silent C 21 KIF21A SNP 12 C A 37981704 37981704 WashU AQP2 359 genome.wustl.edu GRCh37 12 50344952 50344952 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000199280.3:c.339C>T p.Arg113= p.R113= ENST00000199280 NM_000486.5 113 cgC/cgT 0 Missense_Mutation C 27 LOC100131403 SNP 12 T T 48631219 48631219 WashU SCN8A 6334 genome.wustl.edu GRCh37 12 52100321 52100321 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354534.6:c.1457A>G p.Lys486Arg p.K486R ENST00000354534 NM_014191.3 486 aAg/aGg 0 Missense_Mutation A 3 SCN8A SNP 12 A G 50386588 50386588 WashU OR10A7 121364 genome.wustl.edu GRCh37 12 55615678 55615678 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326258.1:c.870C>T p.Tyr290= p.Y290= ENST00000326258 NM_001005280.1 290 taC/taT 0 Silent C 19 OR10A7 SNP 12 C T 53901945 53901945 WashU NAV3 89795 genome.wustl.edu GRCh37 12 78516137 78516137 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000536525.2:c.4167G>A p.Leu1389= p.L1389= ENST00000536525 NM_014903.4 1389 ctG/ctA 0 Silent G 45 NAV3 SNP 12 G A 77040268 77040268 WashU MYO16 23026 genome.wustl.edu GRCh37 13 109540816 109540816 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356711.2:c.1584A>T p.Arg528Ser p.R528S ENST00000356711 NM_015011.1 528 agA/agT 0 Missense_Mutation A 12 MYO16 SNP 13 A T 108338817 108338817 WashU STOML3 161003 genome.wustl.edu GRCh37 13 39541003 39541003 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379631.4:c.835G>A p.Val279Ile p.V279I ENST00000379631 NM_145286.2 279 Gtc/Atc 0 Missense_Mutation C 19 STOML3 SNP 13 C T 38439003 38439003 WashU DGKH 160851 genome.wustl.edu GRCh37 13 42793919 42793919 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337343.4:c.3431G>A p.Ser1144Asn p.S1144N ENST00000337343 NM_178009.3 1144 aGt/aAt 0 Missense_Mutation G 36 DGKH SNP 13 G A 41691919 41691919 WashU SLITRK5 26050 genome.wustl.edu GRCh37 13 88329445 88329445 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000325089.6:c.1802C>A p.Thr601Asn p.T601N ENST00000325089 NM_015567.1 601 aCc/aAc 0 Missense_Mutation C 18 SLITRK5 SNP 13 C A 87127446 87127446 WashU FAM227B 196951 genome.wustl.edu GRCh37 15 49833998 49833998 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299338.6:c.753T>C p.Tyr251= p.Y251= ENST00000299338 NM_152647.2 251 taT/taC 0 Silent A 12 C15orf33 SNP 15 A G 47621290 47621290 WashU UNC13C 440279 genome.wustl.edu GRCh37 15 54860143 54860143 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260323.11:c.6104A>C p.Gln2035Pro p.Q2035P ENST00000260323 NM_001080534.1 2035 cAg/cCg 0 Missense_Mutation A 7 UNC13C SNP 15 A C 52647435 52647435 WashU MNS1 55329 genome.wustl.edu GRCh37 15 56721366 56721366 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260453.3:c.1421T>C p.Ile474Thr p.I474T ENST00000260453 NM_018365.2 474 aTt/aCt 0 Missense_Mutation A 4 MNS1 SNP 15 A G 54508658 54508658 WashU MT1M 4499 genome.wustl.edu GRCh37 16 56667260 56667260 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379818.3:c.37T>C p.Cys13Arg p.C13R ENST00000379818 NM_176870.2 13 Tgc/Cgc 0 Missense_Mutation T 55 MT1M SNP 16 T C 55224761 55224761 WashU DNAAF1 123872 genome.wustl.edu GRCh37 16 84188224 84188224 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378553.5:c.395G>A p.Arg132His p.R132H ENST00000378553 NM_178452.4 132 cGc/cAc 0 Missense_Mutation G 38 LRRC50 SNP 16 G A 82745725 82745725 WashU SYNRG 11276 genome.wustl.edu GRCh37 17 35902214 35902214 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339208.6:c.3062C>T p.Ser1021Leu p.S1021L ENST00000339208 NM_001163544.1 1021 tCg/tTg 0 Missense_Mutation G 37 SYNRG SNP 17 G A 32976327 32976327 WashU PSG6 5675 genome.wustl.edu GRCh37 19 43411283 43411283 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000292125.2:c.1031G>A p.Arg344His p.R344H ENST00000292125 NM_002782.4 344 cGt/cAt 0 Missense_Mutation C 19 PSG6 SNP 19 C T 48103123 48103123 WashU SIGLEC14 100049587 genome.wustl.edu GRCh37 19 52149193 52149193 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360844.6:c.542C>T p.Thr181Met p.T181M ENST00000360844 NM_001098612.1 181 aCg/aTg 0 Missense_Mutation G 40 SIGLEC14 SNP 19 G A 56841005 56841005 WashU POTEF 728378 genome.wustl.edu GRCh37 2 130833008 130833008 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357462.5:c.2037T>C p.Asp679= p.D679= ENST00000357462 679 gaT/gaC 0 Silent A 16 POTEF SNP 2 A G 130549478 130549478 WashU PPIL3 53938 genome.wustl.edu GRCh37 2 201752550 201752550 + intron_variant Intron SNP C C T Unknown TCGA-25-1322-01 TCGA-25-1322-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000286175.8:c.-70-142G>A *24* ENST00000286175 NM_032472.3 0 Splice_Site_SNP C 27 PPIL3 SNP 2 C T 201460795 201460795 WashU RPL37A 6168 genome.wustl.edu GRCh37 2 217364707 217364707 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000491306.1:c.168C>T p.His56= p.H56= ENST00000491306 NM_000998.4 56 caC/caT 0 Silent C 20 RPL37A SNP 2 C T 217072952 217072952 WashU DOCK10 55619 genome.wustl.edu GRCh37 2 225669934 225669934 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258390.7:c.4040C>T p.Thr1347Met p.T1347M ENST00000258390 NM_014689.2 1347 aCg/aTg 0 Missense_Mutation G 40 DOCK10 SNP 2 G A 225378178 225378178 WashU KCND2 3751 genome.wustl.edu GRCh37 7 119915105 119915105 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331113.4:c.419G>A p.Arg140His p.R140H ENST00000331113 NM_012281.2 140 cGc/cAc 0 Missense_Mutation G 38 KCND2 SNP 7 G A 119702341 119702341 WashU RAPGEF5 9771 genome.wustl.edu GRCh37 7 22347969 22347969 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344041.6:c.210C>T p.Gly70= p.G70= ENST00000344041 NM_012294.3 70 ggC/ggT 0 Silent G 46 RAPGEF5 SNP 7 G A 22314494 22314494 WashU PHTF2 57157 genome.wustl.edu GRCh37 7 77552051 77552051 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000416283.2:c.973C>T p.Arg325Trp p.R325W ENST00000416283 NM_020432.4 325 Cgg/Tgg 0 Missense_Mutation C 31 PHTF2 SNP 7 C T 77389987 77389987 WashU AKNA 80709 genome.wustl.edu GRCh37 9 117139670 117139670 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307564.4:c.417G>A p.Glu139= p.E139= ENST00000307564 NM_030767.4 139 gaG/gaA 0 Silent C 32 AKNA SNP 9 C T 116179491 116179491 WashU UAP1L1 91373 genome.wustl.edu GRCh37 9 139976466 139976466 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409858.3:c.1381G>A p.Asp461Asn p.D461N ENST00000409858 NM_207309.2 461 Gac/Aac 0 Missense_Mutation G 33 UAP1L1 SNP 9 G A 139096287 139096287 WashU FOCAD 54914 genome.wustl.edu GRCh37 9 20715367 20715367 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380249.1:c.15C>A p.Ile5= p.I5= ENST00000380249 NM_017794.3 5 atC/atA 0 Silent C 29 KIAA1797 SNP 9 C A 20705367 20705367 WashU AGTPBP1 23287 genome.wustl.edu GRCh37 9 88287523 88287523 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376083.3:c.510G>A p.Leu170= p.L170= ENST00000376083 NM_015239.2 170 ttG/ttA 0 Silent C 25 AGTPBP1 SNP 9 C T 87477343 87477343 WashU TENM1 10178 genome.wustl.edu GRCh37 X 123517988 123517988 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1322-01 TCGA-25-1322-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422452.2:c.6793G>A p.Ala2265Thr p.A2265T ENST00000422452 NM_001163279.1 2265 Gcg/Acg 0 Missense_Mutation C 27 ODZ1 SNP 23 C T 123345669 123345669 WashU RBMXL1 494115 broad.mit.edu GRCh37 1 89448995 89448995 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000399794.2:c.515G>A p.Arg172His p.R172H ENST00000399794 NM_001162536.2 172 cGc/cAc 0 Missense_Mutation C 27 RBMXL1 SNP 1 C T 89221583 89221583 Broad ARHGAP30 257106 broad.mit.edu GRCh37 1 161022582 161022582 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000368013.3:c.670G>A p.Glu224Lys p.E224K ENST00000368013 NM_181720.2 224 Gag/Aag 0 Missense_Mutation C 29 ARHGAP30 SNP 1 C T 159289206 159289206 Broad TNN 63923 broad.mit.edu GRCh37 1 175063191 175063191 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000239462.4:c.1390G>A p.Asp464Asn p.D464N ENST00000239462 NM_022093.1 464 Gac/Aac 0 Missense_Mutation G 41 TNN SNP 1 G A 173329814 173329814 Broad RYR2 6262 broad.mit.edu GRCh37 1 237494210 237494210 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000366574.2:c.201T>C p.Phe67= p.F67= ENST00000366574 NM_001035.2 67 ttT/ttC 0 Silent T 63 RYR2 SNP 1 T C 235560833 235560833 Broad FAM208B 54906 broad.mit.edu GRCh37 10 5789063 5789063 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000328090.5:c.3679G>A p.Gly1227Arg p.G1227R ENST00000328090 NM_017782.4 1227 Gga/Aga 0 Missense_Mutation G 35 C10orf18 SNP 10 G A 5829069 5829069 Broad EDRF1 26098 broad.mit.edu GRCh37 10 127429185 127429185 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000356792.4:c.2135C>T p.Ala712Val p.A712V ENST00000356792 NM_001202438.1 712 gCa/gTa 0 Missense_Mutation C 25 C10orf137 SNP 10 C T 127419175 127419175 Broad FAM160A2 84067 broad.mit.edu GRCh37 11 6239280 6239280 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000265978.4:c.1578T>G p.Gly526= p.G526= ENST00000265978 NM_032127.3 526 ggT/ggG 0 Silent A 6 FAM160A2 SNP 11 A C 6195856 6195856 Broad ST5 6764 broad.mit.edu GRCh37 11 8717998 8717998 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000534127.1:c.3268G>C p.Glu1090Gln p.E1090Q ENST00000534127 NM_005418.3 1090 Gag/Cag 0 Missense_Mutation C 30 ST5 SNP 11 C G 8674574 8674574 Broad C11orf16 56673 broad.mit.edu GRCh37 11 8951051 8951051 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000326053.5:c.197T>C p.Val66Ala p.V66A ENST00000326053 NM_020643.2 66 gTt/gCt 0 Missense_Mutation A 2 C11orf16 SNP 11 A G 8907627 8907627 Broad PIK3C2A 5286 broad.mit.edu GRCh37 11 17122912 17122912 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000265970.7:c.3921T>G p.Ile1307Met p.I1307M ENST00000265970 NM_002645.2 1307 atT/atG 0 Missense_Mutation A 9 PIK3C2A SNP 11 A C 17079488 17079488 Broad EHBP1L1 254102 broad.mit.edu GRCh37 11 65349367 65349367 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000309295.4:c.1224A>G p.Ser408= p.S408= ENST00000309295 NM_001099409.1 408 tcA/tcG 0 Silent A 7 EHBP1L1 SNP 11 A G 65105943 65105943 Broad IGHMBP2 3508 broad.mit.edu GRCh37 11 68700913 68700914 + missense_variant Missense_Mutation DNP TC TC GT novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000255078.3:c.1382_1383delinsGT p.Leu461Arg p.L461R ENST00000255078 NM_002180.2 461 cTC/cGT 0 Missense_Mutation TC 54 IGHMBP2 DNP 11 TC GT 68457490 68457489 Broad DSCAML1 57453 broad.mit.edu GRCh37 11 117352737 117352737 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000321322.6:c.2680G>A p.Val894Ile p.V894I ENST00000321322 NM_020693.2 894 Gtc/Atc 0 Missense_Mutation C 19 DSCAML1 SNP 11 C T 116857947 116857947 Broad TMPRSS12 283471 broad.mit.edu GRCh37 12 51237644 51237644 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000398458.3:c.207T>A p.Leu69= p.L69= ENST00000398458 NM_182559.2 69 ctT/ctA 0 Silent T 61 TMPRSS12 SNP 12 T A 49523911 49523911 Broad RNASE3 6037 broad.mit.edu GRCh37 14 21360144 21360144 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000304639.3:c.299G>A p.Arg100Gln p.R100Q ENST00000304639 NM_002935.2 100 cGg/cAg 0 Missense_Mutation G 39 RNASE3 SNP 14 G A 20429984 20429984 Broad VRTN 55237 broad.mit.edu GRCh37 14 74824922 74824922 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000256362.4:c.1436C>T p.Ala479Val p.A479V ENST00000256362 NM_018228.2 479 gCg/gTg 0 Missense_Mutation C 27 C14orf115 SNP 14 C T 73894675 73894675 Broad TLN2 83660 broad.mit.edu GRCh37 15 63054621 63054621 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000561311.1:c.4930G>A p.Asp1644Asn p.D1644N ENST00000561311 1644 Gac/Aac 0 Missense_Mutation G 37 TLN2 SNP 15 G A 60841913 60841913 Broad PALB2 79728 broad.mit.edu GRCh37 16 23647080 23647080 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000261584.4:c.787G>T p.Glu263Ter p.E263* ENST00000261584 NM_024675.3 263 Gaa/Taa 0 Nonsense_Mutation C 29 PALB2 SNP 16 C A 23554581 23554581 Broad PLCG2 5336 broad.mit.edu GRCh37 16 81972429 81972429 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000359376.3:c.3222C>G p.Pro1074= p.P1074= ENST00000359376 NM_002661.3 1074 ccC/ccG 0 Silent C 21 PLCG2 SNP 16 C G 80529930 80529930 Broad EIF4A1 1973 broad.mit.edu GRCh37 17 7479928 7479928 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000293831.8:c.432G>A p.Val144= p.V144= ENST00000293831 NM_001416.3 144 gtG/gtA 0 Silent G 46 EIF4A1 SNP 17 G A 7420652 7420652 Broad CNTD1 124817 broad.mit.edu GRCh37 17 40951091 40951091 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000588408.1:c.6C>T p.Asp2= p.D2= ENST00000588408 NM_173478.2 2 gaC/gaT 0 Silent C 19 CNTD1 SNP 17 C T 38204617 38204617 Broad MYL4 4635 broad.mit.edu GRCh37 17 45299108 45299108 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000354968.1:c.374G>A p.Arg125His p.R125H ENST00000354968 NM_001002841.1 125 cGc/cAc 0 Missense_Mutation G 38 MYL4 SNP 17 G A 42654107 42654107 Broad ACOX1 51 broad.mit.edu GRCh37 17 73956389 73956389 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000293217.5:c.337C>A p.His113Asn p.H113N ENST00000293217 NM_004035.6 113 Cac/Aac 0 Missense_Mutation G 45 ACOX1 SNP 17 G T 71467984 71467984 Broad RPTOR 57521 broad.mit.edu GRCh37 17 78921059 78921059 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000306801.3:c.3173A>C p.Asp1058Ala p.D1058A ENST00000306801 NM_020761.2 1058 gAt/gCt 0 Missense_Mutation A 12 RPTOR SNP 17 A C 76535654 76535654 Broad CERS4 79603 broad.mit.edu GRCh37 19 8315966 8315966 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000251363.5:c.6G>A p.Leu2= p.L2= ENST00000251363 NM_024552.2 2 ctG/ctA 0 Silent G 48 LASS4 SNP 19 G A 8221966 8221966 Broad MUC16 94025 broad.mit.edu GRCh37 19 9057662 9057662 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000397910.4:c.29784C>G p.Ser9928= p.S9928= ENST00000397910 NM_024690.2 9928 tcC/tcG 0 Silent G 47 MUC16 SNP 19 G C 8918662 8918662 Broad UNC13A 23025 broad.mit.edu GRCh37 19 17750681 17750681 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000519716.2:c.2824A>T p.Asn942Tyr p.N942Y ENST00000519716 NM_001080421.2 942 Aac/Tac 0 Missense_Mutation T 61 UNC13A SNP 19 T A 17611681 17611681 Broad ZNF234 10780 broad.mit.edu GRCh37 19 44661740 44661740 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000426739.2:c.1571C>A p.Ala524Asp p.A524D ENST00000426739 NM_006630.2 524 gCc/gAc 0 Missense_Mutation C 26 ZNF234 SNP 19 C A 49353580 49353580 Broad NLRP4 147945 broad.mit.edu GRCh37 19 56370018 56370018 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000301295.6:c.1259G>A p.Arg420Gln p.R420Q ENST00000301295 NM_134444.4 420 cGg/cAg 0 Missense_Mutation G 39 NLRP4 SNP 19 G A 61061830 61061830 Broad AGBL5 60509 broad.mit.edu GRCh37 2 27291556 27291556 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000360131.4:c.2299G>T p.Gly767Trp p.G767W ENST00000360131 NM_021831.5 767 Ggg/Tgg 0 Missense_Mutation G 39 AGBL5 SNP 2 G T 27145060 27145060 Broad VPS54 51542 broad.mit.edu GRCh37 2 64199339 64199339 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000272322.4:c.418C>A p.Pro140Thr p.P140T ENST00000272322 140 Cct/Act 0 Missense_Mutation G 41 VPS54 SNP 2 G T 64052843 64052843 Broad LRP2 4036 broad.mit.edu GRCh37 2 170103992 170103992 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000263816.3:c.2804C>T p.Ala935Val p.A935V ENST00000263816 NM_004525.2 935 gCc/gTc 0 Missense_Mutation G 42 LRP2 SNP 2 G A 169812238 169812238 Broad USP37 57695 broad.mit.edu GRCh37 2 219399421 219399421 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000258399.3:c.689A>T p.Lys230Met p.K230M ENST00000258399 NM_020935.2 230 aAg/aTg 0 Missense_Mutation T 56 USP37 SNP 2 T A 219107665 219107665 Broad GLB1L 79411 broad.mit.edu GRCh37 2 220103061 220103061 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000295759.7:c.1252A>C p.Thr418Pro p.T418P ENST00000295759 NM_001286423.1 418 Acc/Ccc 0 Missense_Mutation T 60 GLB1L SNP 2 T G 219811305 219811305 Broad ITM2C 81618 broad.mit.edu GRCh37 2 231742247 231742247 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000326427.6:c.694C>A p.Arg232Ser p.R232S ENST00000326427 NM_030926.4 232 Cgc/Agc 0 Missense_Mutation C 27 ITM2C SNP 2 C A 231450491 231450491 Broad KCNQ2 3785 broad.mit.edu GRCh37 20 62073883 62073883 + missense_variant,splice_region_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000359125.2:c.692A>C p.Glu231Ala p.E231A ENST00000359125 NM_172107.2 231 gAg/gCg 0 Missense_Mutation T 54 KCNQ2 SNP 20 T G 61544327 61544327 Broad DOPEY2 9980 broad.mit.edu GRCh37 21 37609660 37609660 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000399151.3:c.2723C>T p.Thr908Met p.T908M ENST00000399151 NM_005128.2 908 aCg/aTg 0 Missense_Mutation C 19 DOPEY2 SNP 21 C T 36531530 36531530 Broad CLTCL1 8218 broad.mit.edu GRCh37 22 19241616 19241616 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000263200.10:c.385C>T p.His129Tyr p.H129Y ENST00000263200 NM_007098.3 129 Cac/Tac 0 Missense_Mutation G 47 CLTCL1 SNP 22 G A 17621616 17621616 Broad C3orf58 205428 broad.mit.edu GRCh37 3 143691332 143691332 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000315691.3:c.158A>G p.Asn53Ser p.N53S ENST00000315691 NM_173552.3 53 aAt/aGt 0 Missense_Mutation A 4 C3orf58 SNP 3 A G 145174022 145174022 Broad FNDC3B 64778 broad.mit.edu GRCh37 3 172080533 172080533 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000336824.4:c.2906C>A p.Ala969Asp p.A969D ENST00000336824 NM_001135095.1 969 gCt/gAt 0 Missense_Mutation C 28 FNDC3B SNP 3 C A 173563227 173563227 Broad LIFR 3977 broad.mit.edu GRCh37 5 38510652 38510652 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000263409.4:c.905G>A p.Arg302His p.R302H ENST00000263409 NM_002310.5 302 cGt/cAt 0 Missense_Mutation C 19 LIFR SNP 5 C T 38546409 38546409 Broad PCDHB13 56123 broad.mit.edu GRCh37 5 140595169 140595169 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000341948.4:c.1474C>G p.Pro492Ala p.P492A ENST00000341948 NM_018933.2 492 Ccg/Gcg 0 Missense_Mutation C 26 PCDHB13 SNP 5 C G 140575353 140575353 Broad TENM2 57451 broad.mit.edu GRCh37 5 167645417 167645417 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000518659.1:c.4521C>T p.Asn1507= p.N1507= ENST00000518659 NM_001122679.1 1507 aaC/aaT 0 Silent C 19 ODZ2 SNP 5 C T 167577995 167577995 Broad STK10 6793 broad.mit.edu GRCh37 5 171480005 171480005 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000176763.5:c.2694A>C p.Lys898Asn p.K898N ENST00000176763 NM_005990.3 898 aaA/aaC 0 Missense_Mutation T 60 STK10 SNP 5 T G 171412610 171412610 Broad C6orf136 221545 broad.mit.edu GRCh37 6 30620609 30620609 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000293604.6:c.1408G>A p.Val470Met p.V470M ENST00000293604 NM_001161376.1 470 Gtg/Atg 0 Missense_Mutation G 48 C6orf136 SNP 6 G A 30728588 30728588 Broad PPP2R5D 5528 broad.mit.edu GRCh37 6 42978450 42978450 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000485511.1:c.1530G>T p.Glu510Asp p.E510D ENST00000485511 NM_001270476.1 510 gaG/gaT 0 Missense_Mutation G 35 PPP2R5D SNP 6 G T 43086428 43086428 Broad ENPP4 22875 broad.mit.edu GRCh37 6 46108111 46108111 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000321037.4:c.791A>C p.Asp264Ala p.D264A ENST00000321037 NM_014936.4 264 gAt/gCt 0 Missense_Mutation A 12 ENPP4 SNP 6 A C 46216070 46216070 Broad USP42 84132 broad.mit.edu GRCh37 7 6189639 6189639 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000306177.5:c.1812G>A p.Leu604= p.L604= ENST00000306177 NM_032172.2 604 ctG/ctA 0 Silent G 47 USP42 SNP 7 G A 6156165 6156165 Broad CHRNB3 1142 broad.mit.edu GRCh37 8 42587315 42587315 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000289957.2:c.865T>A p.Ser289Thr p.S289T ENST00000289957 NM_000749.3 289 Tct/Act 0 Missense_Mutation T 58 CHRNB3 SNP 8 T A 42706472 42706472 Broad FGD3 89846 broad.mit.edu GRCh37 9 95738854 95738854 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000375482.3:c.316G>C p.Gly106Arg p.G106R ENST00000375482 NM_001083536.1 106 Ggg/Cgg 0 Missense_Mutation G 43 FGD3 SNP 9 G C 94778675 94778675 Broad FCN2 2220 broad.mit.edu GRCh37 9 137779170 137779170 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000291744.6:c.851A>G p.His284Arg p.H284R ENST00000291744 NM_004108.2 284 cAt/cGt 0 Missense_Mutation A 8 FCN2 SNP 9 A G 136918991 136918991 Broad GPM6B 2824 broad.mit.edu GRCh37 X 13792741 13792741 + intron_variant Intron SNP C C A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000316715.4:c.838-1592G>T *280* ENST00000316715 NM_001001995.1 0 Silent C 29 GPM6B SNP 23 C A 13702662 13702662 Broad MAGEB1 4112 broad.mit.edu GRCh37 X 30269381 30269381 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000378981.3:c.771C>T p.Tyr257= p.Y257= ENST00000378981 NM_002363.4 257 taC/taT 0 Silent C 19 MAGEB1 SNP 23 C T 30179302 30179302 Broad NLGN3 54413 broad.mit.edu GRCh37 X 70389792 70389792 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000358741.3:c.2392C>T p.Arg798Cys p.R798C ENST00000358741 NM_181303.1 798 Cgc/Tgc 0 Missense_Mutation C 27 NLGN3 SNP 23 C T 70306517 70306517 Broad BCORL1 63035 broad.mit.edu GRCh37 X 129147438 129147438 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000540052.1:c.690A>G p.Pro230= p.P230= ENST00000540052 NM_021946.4 230 ccA/ccG 0 Silent A 7 BCORL1 SNP 23 A G 128975119 128975119 Broad ZIC3 7547 broad.mit.edu GRCh37 X 136648913 136648913 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown x x x ENST00000287538.5:c.63G>A p.Ala21= p.A21= ENST00000287538 NM_003413.3 21 gcG/gcA 0 Silent G 38 ZIC3 SNP 23 G A 136476579 136476579 Broad HJURP 55355 broad.mit.edu GRCh37 2 234754370 234754397 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TTACCTCAAAATACTCTGCACCTTGTAG TTACCTCAAAATACTCTGCACCTTGTAG - novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000411486.2:c.472_495+4del p.X158_splice ENST00000411486 NM_018410.3 158 0 Splice_Site_Del TTACCTCAAAATACTCTGCACCTTGTAG 52 HJURP DEL 2 - TTACCTCAAAATACTCTGCACCTTGTAG 234419136 234419109 Broad THBS4 7060 broad.mit.edu GRCh37 5 79369090 79369102 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL CTTTGCAGTCTGA CTTTGCAGTCTGA - novel Unknown TCGA-13-1477-01 TCGA-13-1477-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000350881.2:c.1840-8_1844del p.X614_splice ENST00000350881 NM_003248.4 0 Splice_Site_Del CTTTGCAGTCTGA 32 THBS4 DEL 5 - CTTTGCAGTCTGA 79404858 79404846 Broad CBWD1 55871 genome.wustl.edu GRCh37 9 178918 178918 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000356521.4:c.52G>T p.Asp18Tyr p.D18Y ENST00000356521 NM_018491.3 18 Gat/Tat 0 Missense_Mutation C 30 CBWD1 SNP 9 C A 168918 168918 WashU CARS 833 genome.wustl.edu GRCh37 11 3038504 3038504 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000380525.4:c.1749A>T p.Ala583= p.A583= ENST00000380525 NM_001194997.1 583 gcA/gcT 0 Silent T 63 CARS SNP 11 T A 2995080 2995080 WashU TRPV3 162514 genome.wustl.edu GRCh37 17 3424276 3424276 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000301365.4:c.1801T>G p.Phe601Val p.F601V ENST00000301365 601 Ttt/Gtt 0 Missense_Mutation A 4 TRPV3 SNP 17 A C 3371026 3371026 WashU RPP40 10799 genome.wustl.edu GRCh37 6 4999008 4999008 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000380051.2:c.501G>A p.Trp167Ter p.W167* ENST00000380051 NM_006638.2 167 tgG/tgA 0 Nonsense_Mutation C 18 RPP40 SNP 6 C T 4944007 4944007 WashU RP1L1 94137 genome.wustl.edu GRCh37 8 10464503 10464503 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000382483.3:c.7105G>T p.Gly2369Cys p.G2369C ENST00000382483 NM_178857.5 2369 Ggt/Tgt 0 Missense_Mutation C 24 RP1L1 SNP 8 C A 10501913 10501913 WashU HIVEP1 3096 genome.wustl.edu GRCh37 6 12163572 12163572 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000379388.2:c.7035A>C p.Ala2345= p.A2345= ENST00000379388 NM_002114.2 2345 gcA/gcC 0 Silent A 7 HIVEP1 SNP 6 A C 12271558 12271558 WashU RAD23A 5886 genome.wustl.edu GRCh37 19 13059538 13059538 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000586534.1:c.511A>T p.Met171Leu p.M171L ENST00000586534 171 Atg/Ttg 0 Missense_Mutation A 8 RAD23A SNP 19 A T 12920538 12920538 WashU EMR3 84658 genome.wustl.edu GRCh37 19 14757991 14757991 + splice_donor_variant Splice_Site SNP A A C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000253673.5:c.882+2T>G p.X294_splice ENST00000253673 NM_032571.3 0 Splice_Site_SNP A 6 EMR3 SNP 19 A C 14618991 14618991 WashU MEIG1 644890 genome.wustl.edu GRCh37 10 15008563 15008563 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000407572.1:c.96T>A p.Tyr32Ter p.Y32* ENST00000407572 NM_001080836.2 32 taT/taA 0 Nonsense_Mutation T 50 MEIG1 SNP 10 T A 15048569 15048569 WashU CABYR 26256 genome.wustl.edu GRCh37 18 21739675 21739675 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000399496.3:c.781A>G p.Ile261Val p.I261V ENST00000399496 NM_012189.3 261 Atc/Gtc 0 Missense_Mutation A 16 CABYR SNP 18 A G 19993673 19993673 WashU RPGRIP1 57096 genome.wustl.edu GRCh37 14 21762871 21762871 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400017.2:c.121A>G p.Met41Val p.M41V ENST00000400017 NM_020366.3 41 Atg/Gtg 0 Missense_Mutation A 12 RPGRIP1 SNP 14 A G 20832711 20832711 WashU HIST1H2AG 8969 genome.wustl.edu GRCh37 6 27100858 27100858 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000359193.2:c.8G>T p.Gly3Val p.G3V ENST00000359193 NM_021064.4 3 gGa/gTa 0 Missense_Mutation G 41 HIST1H2AG SNP 6 G T 27208837 27208837 WashU IL21R 50615 genome.wustl.edu GRCh37 16 27456571 27456571 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000337929.3:c.759G>A p.Trp253Ter p.W253* ENST00000337929 NM_181078.2 253 tgG/tgA 0 Nonsense_Mutation G 41 IL21R SNP 16 G A 27364072 27364072 WashU KIAA0556 23247 genome.wustl.edu GRCh37 16 27788939 27788939 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000261588.4:c.4560G>T p.Val1520= p.V1520= ENST00000261588 NM_015202.2 1520 gtG/gtT 0 Silent G 47 KIAA0556 SNP 16 G T 27696440 27696440 WashU OR14J1 442191 genome.wustl.edu GRCh37 6 29275407 29275407 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000377160.2:c.941G>A p.Cys314Tyr p.C314Y ENST00000377160 NM_030946.1 314 tGc/tAc 0 Missense_Mutation G 46 OR14J1 SNP 6 G A 29383386 29383386 WashU ITGAD 3681 genome.wustl.edu GRCh37 16 31413472 31413472 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000389202.2:c.464T>C p.Ile155Thr p.I155T ENST00000389202 NM_005353.2 155 aTt/aCt 0 Missense_Mutation T 52 ITGAD SNP 16 T C 31320973 31320973 WashU SPAST 6683 genome.wustl.edu GRCh37 2 32361684 32361684 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000315285.3:c.1298T>G p.Leu433Arg p.L433R ENST00000315285 NM_014946.3 433 cTt/cGt 0 Missense_Mutation T 56 SPAST SNP 2 T G 32215188 32215188 WashU BMPER 168667 genome.wustl.edu GRCh37 7 34192867 34192867 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000297161.2:c.2040C>A p.Val680= p.V680= ENST00000297161 NM_133468.4 680 gtC/gtA 0 Silent C 30 BMPER SNP 7 C A 34159392 34159392 WashU ZNF536 9745 genome.wustl.edu GRCh37 19 30936288 30936288 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000355537.3:c.1819T>A p.Phe607Ile p.F607I ENST00000355537 NM_014717.1 607 Ttt/Att 0 Missense_Mutation T 64 ZNF536 SNP 19 T A 35628128 35628128 WashU NPR2 4882 genome.wustl.edu GRCh37 9 35805826 35805826 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000342694.2:c.2048-1G>C p.X683_splice ENST00000342694 NM_003995.3 0 Splice_Site_SNP G 33 NPR2 SNP 9 G C 35795826 35795826 WashU KBTBD7 84078 genome.wustl.edu GRCh37 13 41766661 41766661 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000379483.3:c.1733G>C p.Trp578Ser p.W578S ENST00000379483 NM_032138.4 578 tGg/tCg 0 Missense_Mutation C 21 KBTBD7 SNP 13 C G 40664661 40664661 WashU BACE2 25825 genome.wustl.edu GRCh37 21 42613763 42613763 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000330333.6:c.636G>A p.Glu212= p.E212= ENST00000330333 NM_012105.4 212 gaG/gaA 0 Silent G 33 BACE2 SNP 21 G A 41535633 41535633 WashU PLEKHG2 64857 genome.wustl.edu GRCh37 19 39915544 39915544 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000409794.3:c.3771G>C p.Thr1257= p.T1257= ENST00000409794 NM_022835.2 1257 acG/acC 0 Silent G 38 PLEKHG2 SNP 19 G C 44607384 44607384 WashU SKA1 220134 genome.wustl.edu GRCh37 18 47917616 47917616 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000285116.3:c.572G>A p.Arg191Lys p.R191K ENST00000285116 NM_145060.3 191 aGa/aAa 0 Missense_Mutation G 33 SKA1 SNP 18 G A 46171614 46171614 WashU MADD 8567 genome.wustl.edu GRCh37 11 47310524 47310524 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311027.5:c.2659G>A p.Gly887Arg p.G887R ENST00000311027 NM_003682.3 887 Ggg/Agg 0 Missense_Mutation G 47 MADD SNP 11 G A 47267100 47267100 WashU NRXN1 9378 genome.wustl.edu GRCh37 2 50318609 50318609 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000404971.1:c.3690G>A p.Lys1230= p.K1230= ENST00000404971 NM_001135659.1 1230 aaG/aaA 0 Silent C 20 NRXN1 SNP 2 C T 50172113 50172113 WashU ICK 22858 genome.wustl.edu GRCh37 6 52878517 52878517 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356971.3:c.1095G>T p.Gln365His p.Q365H ENST00000356971 NM_016513.4 365 caG/caT 0 Missense_Mutation C 24 ICK SNP 6 C A 52986476 52986476 WashU PLA2G4C 8605 genome.wustl.edu GRCh37 19 48603006 48603006 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000599111.1:c.399C>A p.Thr133= p.T133= ENST00000599111 NM_003706.2 133 acC/acA 0 Silent G 47 PLA2G4C SNP 19 G T 53294818 53294818 WashU CDK2 1017 genome.wustl.edu GRCh37 12 56364889 56364889 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000266970.4:c.650G>T p.Arg217Leu p.R217L ENST00000266970 NM_001798.3 217 cGg/cTg 0 Missense_Mutation G 39 CDK2 SNP 12 G T 54651156 54651156 WashU DENND6A 201627 genome.wustl.edu GRCh37 3 57658142 57658142 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000311128.5:c.261A>C p.Lys87Asn p.K87N ENST00000311128 NM_152678.2 87 aaA/aaC 0 Missense_Mutation T 60 FAM116A SNP 3 T G 57633182 57633182 WashU REL 5966 genome.wustl.edu GRCh37 2 61118919 61118919 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000295025.8:c.112G>C p.Glu38Gln p.E38Q ENST00000295025 NM_002908.2 38 Gag/Cag 0 Missense_Mutation G 41 REL SNP 2 G C 60972423 60972423 WashU AHNAK 79026 genome.wustl.edu GRCh37 11 62295496 62295496 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000378024.4:c.6393C>G p.Val2131= p.V2131= ENST00000378024 NM_001620.2 2131 gtC/gtG 0 Silent G 45 AHNAK SNP 11 G C 62052072 62052072 WashU KDM2A 22992 genome.wustl.edu GRCh37 11 67017881 67017881 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000529006.2:c.2380A>C p.Ile794Leu p.I794L ENST00000529006 NM_012308.2 794 Atc/Ctc 0 Missense_Mutation A 12 KDM2A SNP 11 A C 66774457 66774457 WashU DDX50 79009 genome.wustl.edu GRCh37 10 70695821 70695821 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000373585.3:c.1581C>T p.Ser527= p.S527= ENST00000373585 NM_024045.1 527 agC/agT 0 Silent C 25 DDX50 SNP 10 C T 70365827 70365827 WashU ALB 213 genome.wustl.edu GRCh37 4 74272347 74272347 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000295897.4:c.139G>A p.Val47Met p.V47M ENST00000295897 NM_000477.5 47 Gtg/Atg 0 Missense_Mutation G 44 ALB SNP 4 G A 74491211 74491211 WashU ACTG1 71 genome.wustl.edu GRCh37 17 79478319 79478319 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000575842.1:c.697T>A p.Ser233Thr p.S233T ENST00000575842 233 Tcc/Acc 0 Missense_Mutation A 11 ACTG1 SNP 17 A T 77092914 77092914 WashU HGS 9146 genome.wustl.edu GRCh37 17 79653372 79653372 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000329138.4:c.153G>A p.Lys51= p.K51= ENST00000329138 NM_004712.4 51 aaG/aaA 0 Silent G 33 HGS SNP 17 A A 77263777 77263777 WashU MMP16 4325 genome.wustl.edu GRCh37 8 89209402 89209402 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000286614.6:c.266A>G p.Asp89Gly p.D89G ENST00000286614 NM_005941.4 89 gAc/gGc 0 Missense_Mutation T 58 MMP16 SNP 8 T C 89278518 89278518 WashU VPS33B 26276 genome.wustl.edu GRCh37 15 91548135 91548135 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000333371.3:c.1197C>G p.Leu399= p.L399= ENST00000333371 NM_018668.3 399 ctC/ctG 0 Silent G 45 VPS33B SNP 15 G C 89349139 89349139 WashU HFM1 164045 genome.wustl.edu GRCh37 1 91781479 91781479 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000370425.3:c.3033A>G p.Leu1011= p.L1011= ENST00000370425 NM_001017975.3 1011 ttA/ttG 0 Silent T 61 HFM1 SNP 1 T C 91554067 91554067 WashU SLC24A4 123041 genome.wustl.edu GRCh37 14 92953021 92953021 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000532405.1:c.1434C>T p.Ile478= p.I478= ENST00000532405 478 atC/atT 0 Silent C 31 SLC24A4 SNP 14 C T 92022774 92022774 WashU TRIM43 129868 genome.wustl.edu GRCh37 2 96262063 96262063 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000272395.2:c.621G>C p.Glu207Asp p.E207D ENST00000272395 NM_138800.1 207 gaG/gaC 0 Missense_Mutation G 33 TRIM43 SNP 2 G C 95625790 95625790 WashU LIX1 167410 genome.wustl.edu GRCh37 5 96432518 96432518 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000274382.4:c.557G>A p.Arg186Gln p.R186Q ENST00000274382 NM_153234.4 186 cGa/cAa 0 Missense_Mutation C 31 LIX1 SNP 5 C T 96458274 96458274 WashU DNTT 1791 genome.wustl.edu GRCh37 10 98082474 98082474 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000371174.2:c.739C>A p.Gln247Lys p.Q247K ENST00000371174 247 Caa/Aaa 0 Missense_Mutation C 29 DNTT SNP 10 C A 98072464 98072464 WashU ADH1C 126 genome.wustl.edu GRCh37 4 100268979 100268979 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000515683.1:c.43C>T p.Leu15= p.L15= ENST00000515683 NM_000669.3 15 Cta/Tta 0 Silent G 34 ADH1C SNP 4 G A 100488002 100488002 WashU NALCN 259232 genome.wustl.edu GRCh37 13 101735219 101735219 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000251127.6:c.3706C>A p.Pro1236Thr p.P1236T ENST00000251127 NM_052867.2 1236 Ccg/Acg 0 Missense_Mutation G 43 NALCN SNP 13 G T 100533220 100533220 WashU ABCA1 19 genome.wustl.edu GRCh37 9 107589408 107589408 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000374736.3:c.2158G>T p.Val720Phe p.V720F ENST00000374736 NM_005502.3 720 Gtc/Ttc 0 Missense_Mutation C 17 ABCA1 SNP 9 C A 106629229 106629229 WashU SLC26A3 1811 genome.wustl.edu GRCh37 7 107416979 107416979 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000340010.5:c.1595C>A p.Pro532Gln p.P532Q ENST00000340010 NM_000111.2 532 cCa/cAa 0 Missense_Mutation G 47 SLC26A3 SNP 7 G T 107204215 107204215 WashU ARMC2 84071 genome.wustl.edu GRCh37 6 109197476 109197476 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000392644.4:c.594T>A p.Asp198Glu p.D198E ENST00000392644 NM_032131.4 198 gaT/gaA 0 Missense_Mutation T 51 ARMC2 SNP 6 T A 109304169 109304169 WashU ZBTB16 7704 genome.wustl.edu GRCh37 11 113934241 113934241 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000335953.4:c.219C>T p.Asp73= p.D73= ENST00000335953 NM_006006.4 73 gaC/gaT 0 Silent C 20 ZBTB16 SNP 11 C T 113439451 113439451 WashU ZBTB16 7704 genome.wustl.edu GRCh37 11 113934832 113934832 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000335953.4:c.810C>A p.Asp270Glu p.D270E ENST00000335953 NM_006006.4 270 gaC/gaA 0 Missense_Mutation C 17 ZBTB16 SNP 11 C A 113440042 113440042 WashU ABLIM1 3983 genome.wustl.edu GRCh37 10 116417742 116417742 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000277895.5:c.218G>A p.Arg73His p.R73H ENST00000277895 NM_002313.5 73 cGt/cAt 0 Missense_Mutation C 19 ABLIM1 SNP 10 C T 116407732 116407732 WashU ARCN1 372 genome.wustl.edu GRCh37 11 118454563 118454563 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000264028.4:c.487G>C p.Ala163Pro p.A163P ENST00000264028 NM_001655.4 163 Gca/Cca 0 Missense_Mutation G 34 ARCN1 SNP 11 G C 117959773 117959773 WashU SORL1 6653 genome.wustl.edu GRCh37 11 121485731 121485731 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000260197.7:c.5571A>T p.Ala1857= p.A1857= ENST00000260197 NM_003105.5 1857 gcA/gcT 0 Silent A 7 SORL1 SNP 11 A T 120990941 120990941 WashU FNIP1 96459 genome.wustl.edu GRCh37 5 131014826 131014826 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000510461.1:c.1245A>C p.Glu415Asp p.E415D ENST00000510461 NM_133372.2 415 gaA/gaC 0 Missense_Mutation T 60 FNIP1 SNP 5 T G 131042725 131042725 WashU ASAP1 50807 genome.wustl.edu GRCh37 8 131181276 131181276 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000357668.1:c.784A>T p.Lys262Ter p.K262* ENST00000357668 262 Aaa/Taa 0 Nonsense_Mutation T 62 ASAP1 SNP 8 T A 131250458 131250458 WashU TUBBP5 genome.wustl.edu GRCh37 9 141071078 141071078 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000508529.2:n.696A>G *232* ENST00000508529 0 Missense_Mutation A 8 ENSG00000159247 SNP 9 A G 140190899 140190899 WashU ZBTB38 253461 genome.wustl.edu GRCh37 3 141162535 141162535 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000514251.1:c.1305T>G p.Gly435= p.G435= ENST00000514251 435 ggT/ggG 0 Silent T 59 ZBTB38 SNP 3 T G 142645225 142645225 WashU LIX1L 128077 genome.wustl.edu GRCh37 1 145498604 145498604 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000369308.3:c.840G>C p.Trp280Cys p.W280C ENST00000369308 NM_153713.2 280 tgG/tgC 0 Missense_Mutation G 43 LIX1L SNP 1 G C 144209961 144209961 WashU ZNF7 7553 genome.wustl.edu GRCh37 8 146062801 146062801 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000528372.1:c.156G>A p.Glu52= p.E52= ENST00000528372 52 gaG/gaA 0 Silent G 34 ZNF7 SNP 8 G A 146033605 146033605 WashU AFF2 2334 genome.wustl.edu GRCh37 X 148048556 148048556 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000370460.2:c.3150T>C p.Leu1050= p.L1050= ENST00000370460 NM_002025.3 1050 ctT/ctC 0 Silent T 62 AFF2 SNP 23 T C 147856250 147856250 WashU ZNF425 155054 genome.wustl.edu GRCh37 7 148802019 148802019 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000378061.2:c.944G>A p.Cys315Tyr p.C315Y ENST00000378061 NM_001001661.2 315 tGc/tAc 0 Missense_Mutation C 25 ZNF425 SNP 7 C T 148432952 148432952 WashU ADAM15 8751 genome.wustl.edu GRCh37 1 155029719 155029719 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000356955.2:c.1204C>T p.Leu402Phe p.L402F ENST00000356955 NM_207197.2 402 Ctc/Ttc 0 Missense_Mutation C 24 ADAM15 SNP 1 C T 153296343 153296343 WashU SCAMP3 10067 genome.wustl.edu GRCh37 1 155226123 155226123 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000302631.3:c.985C>T p.Arg329Ter p.R329* ENST00000302631 NM_005698.3 329 Cga/Tga 0 Nonsense_Mutation G 38 SCAMP3 SNP 1 G A 153492747 153492747 WashU FCRL4 83417 genome.wustl.edu GRCh37 1 157557705 157557705 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000271532.1:c.512G>T p.Gly171Val p.G171V ENST00000271532 NM_031282.2 171 gGa/gTa 0 Missense_Mutation C 30 FCRL4 SNP 1 C A 155824329 155824329 WashU ASIC5 51802 genome.wustl.edu GRCh37 4 156775394 156775394 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000537611.2:c.420T>A p.His140Gln p.H140Q ENST00000537611 NM_017419.2 140 caT/caA 0 Missense_Mutation A 12 ACCN5 SNP 4 A T 156994844 156994844 WashU UCK2 7371 genome.wustl.edu GRCh37 1 165872505 165872505 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000367879.4:c.586T>C p.Phe196Leu p.F196L ENST00000367879 NM_012474.4 196 Ttc/Ctc 0 Missense_Mutation T 52 UCK2 SNP 1 T C 164139129 164139129 WashU POGK 57645 genome.wustl.edu GRCh37 1 166819441 166819441 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000367875.1:c.1625C>T p.Pro542Leu p.P542L ENST00000367875 542 cCa/cTa 0 Missense_Mutation C 21 POGK SNP 1 C T 165086065 165086065 WashU SCN2A 6326 genome.wustl.edu GRCh37 2 166170591 166170591 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357398.3:c.1356G>A p.Gln452= p.Q452= ENST00000357398 452 caG/caA 0 Silent G 36 SCN2A SNP 2 G A 165878837 165878837 WashU XIRP2 129446 genome.wustl.edu GRCh37 2 168104778 168104778 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000409195.1:c.6876A>G p.Pro2292= p.P2292= ENST00000409195 NM_152381.5 2292 ccA/ccG 0 Silent A 8 XIRP2 SNP 2 A G 167813024 167813024 WashU SEC62 7095 genome.wustl.edu GRCh37 3 169693429 169693429 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000337002.4:c.70G>C p.Val24Leu p.V24L ENST00000337002 NM_003262.3 24 Gtg/Ctg 0 Missense_Mutation G 48 SEC62 SNP 3 G C 171176123 171176123 WashU OR2V2 285659 genome.wustl.edu GRCh37 5 180582361 180582361 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000328275.1:c.419G>T p.Arg140Met p.R140M ENST00000328275 NM_206880.1 140 aGg/aTg 0 Missense_Mutation G 35 OR2V2 SNP 5 G T 180514967 180514967 WashU THPO 7066 genome.wustl.edu GRCh37 3 184090779 184090779 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000204615.7:c.584T>C p.Leu195Pro p.L195P ENST00000204615 NM_000460.2 195 cTc/cCc 0 Missense_Mutation A 11 THPO SNP 3 A G 185573473 185573473 WashU SLC11A1 6556 genome.wustl.edu GRCh37 2 219259460 219259460 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1417-01 TCGA-24-1417-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000233202.6:c.1494C>A p.Gly498= p.G498= ENST00000233202 NM_000578.3 498 ggC/ggA 0 Silent C 26 SLC11A1 SNP 2 C A 218967704 218967704 WashU ADAMTS16 170690 hgsc.bcm.edu GRCh37 5 5239978 5239978 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000274181.7:c.2463C>G p.Ser821= p.S821= ENST00000274181 NM_139056.2 821 tcC/tcG 0 Silent C 24 ADAMTS16 SNP 5 C G 5292978 5292978 Baylor ARF3 377 hgsc.bcm.edu GRCh37 12 49334780 49334780 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000256682.4:c.99C>A p.Ile33= p.I33= ENST00000256682 NM_001659.2 33 atC/atA 0 Silent G 41 ARF3 SNP 12 G T 47621047 47621047 Baylor ATP5B 506 hgsc.bcm.edu GRCh37 12 57033004 57033004 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262030.3:c.1375A>C p.Lys459Gln p.K459Q ENST00000262030 NM_001686.3 459 Aaa/Caa 0 Missense_Mutation T 62 ATP5B SNP 12 T G 55319271 55319271 Baylor BACE2 25825 hgsc.bcm.edu GRCh37 21 42622778 42622778 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000330333.6:c.1084C>G p.Leu362Val p.L362V ENST00000330333 NM_012105.4 362 Ctg/Gtg 0 Missense_Mutation C 24 BACE2 SNP 21 C G 41544648 41544648 Baylor CCDC39 339829 hgsc.bcm.edu GRCh37 3 180377277 180377277 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000442201.2:c.701T>C p.Met234Thr p.M234T ENST00000442201 NM_181426.1 234 aTg/aCg 0 Missense_Mutation A 8 CCDC39 SNP 3 A G 181859971 181859971 Baylor CHD6 84181 hgsc.bcm.edu GRCh37 20 40081431 40081431 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000373233.3:c.3272G>A p.Arg1091His p.R1091H ENST00000373233 NM_032221.4 1091 cGc/cAc 0 Missense_Mutation C 27 CHD6 SNP 20 C T 39514845 39514845 Baylor DCHS2 54798 hgsc.bcm.edu GRCh37 4 155305580 155305580 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357232.4:c.174C>T p.Leu58= p.L58= ENST00000357232 NM_017639.3 58 ctC/ctT 0 Missense_Mutation G 33 DCHS2 SNP 4 G A 155525030 155525030 Baylor DNAJA3 9093 hgsc.bcm.edu GRCh37 16 4493083 4493083 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262375.6:c.849C>G p.Ser283= p.S283= ENST00000262375 NM_005147.5 283 tcC/tcG 0 Silent C 21 DNAJA3 SNP 16 C G 4433084 4433084 Baylor DOCK2 1794 hgsc.bcm.edu GRCh37 5 169483758 169483758 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000256935.8:c.4366G>C p.Glu1456Gln p.E1456Q ENST00000256935 NM_004946.2 1456 Gag/Cag 0 Missense_Mutation G 33 DOCK2 SNP 5 G C 169416336 169416336 Baylor FBLN5 10516 hgsc.bcm.edu GRCh37 14 92343944 92343944 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000342058.4:c.1072G>C p.Gly358Arg p.G358R ENST00000342058 NM_006329.3 358 Gga/Cga 0 Missense_Mutation C 24 FBLN5 SNP 14 C G 91413697 91413697 Baylor GABRG1 2565 hgsc.bcm.edu GRCh37 4 46043243 46043243 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295452.4:c.1160C>T p.Thr387Ile p.T387I ENST00000295452 NM_173536.3 387 aCt/aTt 0 Missense_Mutation G 36 GABRG1 SNP 4 G A 45738000 45738000 Baylor GLRA3 8001 hgsc.bcm.edu GRCh37 4 175598272 175598272 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000274093.3:c.884C>T p.Thr295Met p.T295M ENST00000274093 NM_006529.2 295 aCg/aTg 0 Missense_Mutation G 40 GLRA3 SNP 4 G A 175834847 175834847 Baylor GPR111 222611 hgsc.bcm.edu GRCh37 6 47649693 47649693 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000296862.1:c.1398C>T p.Ser466= p.S466= ENST00000296862 466 tcC/tcT 0 Silent C 21 GPR111 SNP 6 C T 47757652 47757652 Baylor GPR148 344561 hgsc.bcm.edu GRCh37 2 131487555 131487555 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000309926.4:c.831G>T p.Gly277= p.G277= ENST00000309926 NM_207364.2 277 ggG/ggT 0 Silent G 43 GPR148 SNP 2 G T 131204025 131204025 Baylor GRIA3 2892 hgsc.bcm.edu GRCh37 X 122561910 122561910 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264357.5:c.1996G>A p.Glu666Lys p.E666K ENST00000264357 NM_000828.4 666 Gag/Aag 0 Missense_Mutation G 33 GRIA3 SNP 23 G A 122389591 122389591 Baylor JUP 3728 hgsc.bcm.edu GRCh37 17 39919488 39919488 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393931.3:c.1244T>A p.Leu415His p.L415H ENST00000393931 NM_002230.2 415 cTc/cAc 0 Missense_Mutation A 11 JUP SNP 17 A T 37173014 37173014 Baylor KCNH8 131096 hgsc.bcm.edu GRCh37 3 19554727 19554728 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328405.2:c.2352dupC p.Asn785GlnfsTer3 p.N785Qfs*3 ENST00000328405 NM_144633.2 782 gac/gaCc 0 Frame_Shift_Ins - 10 KCNH8 INS 3 - C 19529732 19529731 Baylor FOCAD 54914 hgsc.bcm.edu GRCh37 9 20907201 20907201 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380249.1:c.2678G>T p.Trp893Leu p.W893L ENST00000380249 NM_017794.3 893 tGg/tTg 0 Missense_Mutation G 47 KIAA1797 SNP 9 G T 20897201 20897201 Baylor LRRC59 55379 hgsc.bcm.edu GRCh37 17 48462596 48462596 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000225972.7:c.559C>T p.Leu187= p.L187= ENST00000225972 NM_018509.3 187 Ctg/Ttg 0 Silent G 36 LRRC59 SNP 17 G A 45817595 45817595 Baylor TAB3 257397 hgsc.bcm.edu GRCh37 X 30873211 30873211 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378933.1:c.571A>G p.Ser191Gly p.S191G ENST00000378933 NM_152787.3 191 Agt/Ggt 0 Missense_Mutation T 53 TAB3 SNP 23 T C 30783132 30783132 Baylor MAPK1 5594 hgsc.bcm.edu GRCh37 22 22160202 22160202 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000215832.6:c.429T>A p.Ala143= p.A143= ENST00000215832 NM_002745.4 143 gcT/gcA 0 Silent A 15 MAPK1 SNP 22 A T 20490202 20490202 Baylor MGRN1 23295 hgsc.bcm.edu GRCh37 16 4707254 4707254 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262370.7:c.451C>G p.Pro151Ala p.P151A ENST00000262370 NM_015246.3 151 Ccc/Gcc 0 Missense_Mutation C 22 MGRN1 SNP 16 C G 4647255 4647255 Baylor KMT2A 4297 hgsc.bcm.edu GRCh37 11 118343378 118343378 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000534358.1:c.1504G>T p.Glu502Ter p.E502* ENST00000534358 NM_005933.3 502 Gag/Tag 0 Nonsense_Mutation G 41 MLL SNP 11 G T 117848588 117848588 Baylor MYO3A 53904 hgsc.bcm.edu GRCh37 10 26385321 26385321 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265944.5:c.1574A>G p.Asn525Ser p.N525S ENST00000265944 NM_017433.4 525 aAt/aGt 0 Missense_Mutation A 4 MYO3A SNP 10 A G 26425327 26425327 Baylor NAT8B 51471 hgsc.bcm.edu GRCh37 2 73928244 73928244 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377712.2:n.189C>T *63* ENST00000377712 0 Silent G 43 NAT8B SNP 2 G A 73781752 73781752 Baylor NES 10763 hgsc.bcm.edu GRCh37 1 156640157 156640157 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368223.3:c.3823C>T p.Pro1275Ser p.P1275S ENST00000368223 NM_006617.1 1275 Ccc/Tcc 0 Missense_Mutation G 43 NES SNP 1 G A 154906781 154906781 Baylor NLRP8 126205 hgsc.bcm.edu GRCh37 19 56490768 56490768 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000291971.3:c.2885A>T p.Asn962Ile p.N962I ENST00000291971 NM_176811.2 962 aAc/aTc 0 Missense_Mutation A 2 NLRP8 SNP 19 A T 61182580 61182580 Baylor NPLOC4 55666 hgsc.bcm.edu GRCh37 17 79573725 79573725 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000331134.6:c.646A>T p.Asn216Tyr p.N216Y ENST00000331134 NM_017921.2 216 Aac/Tac 0 Missense_Mutation T 62 NPLOC4 SNP 17 T A 77184167 77184167 Baylor NUP160 23279 hgsc.bcm.edu GRCh37 11 47814456 47814456 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378460.2:c.3332A>C p.Glu1111Ala p.E1111A ENST00000378460 NM_015231.1 1111 gAa/gCa 0 Missense_Mutation T 62 NUP160 SNP 11 T G 47771032 47771032 Baylor OR4C11 219429 hgsc.bcm.edu GRCh37 11 55371459 55371459 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302231.4:c.391C>G p.Pro131Ala p.P131A ENST00000302231 NM_001004700.2 131 Cca/Gca 0 Missense_Mutation G 43 OR4C11 SNP 11 G C 55128035 55128035 Baylor OSBPL6 114880 hgsc.bcm.edu GRCh37 2 179236957 179236957 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000392505.2:c.1467T>C p.Asp489= p.D489= ENST00000392505 NM_001201480.1 489 gaT/gaC 0 Silent T 51 OSBPL6 SNP 2 T C 178945203 178945203 Baylor OXCT1 5019 hgsc.bcm.edu GRCh37 5 41762295 41762295 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000196371.5:c.1256T>A p.Met419Lys p.M419K ENST00000196371 NM_000436.3 419 aTg/aAg 0 Missense_Mutation A 8 OXCT1 SNP 5 A T 41798052 41798052 Baylor PEX5L 51555 hgsc.bcm.edu GRCh37 3 179592212 179592212 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000467460.1:c.630-1G>C p.X210_splice ENST00000467460 NM_001256751.1 0 Splice_Site_SNP C 24 PEX5L SNP 3 C G 181074906 181074906 Baylor PKHD1L1 93035 hgsc.bcm.edu GRCh37 8 110460547 110460547 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378402.5:c.5952del p.Thr1985GlnfsTer33 p.T1985Qfs*33 ENST00000378402 NM_177531.4 1984 aaG/aa 0 Frame_Shift_Del G 33 PKHD1L1 DEL 8 G - 110529723 110529723 Baylor PM20D1 148811 hgsc.bcm.edu GRCh37 1 205819099 205819099 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367136.4:c.102A>T p.Gln34His p.Q34H ENST00000367136 NM_152491.4 34 caA/caT 0 Missense_Mutation T 64 PM20D1 SNP 1 T A 204085722 204085722 Baylor PTPRT 11122 hgsc.bcm.edu GRCh37 20 41408909 41408909 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000373198.4:c.517C>T p.His173Tyr p.H173Y ENST00000373198 NM_133170.3 173 Cat/Tat 0 Missense_Mutation G 45 PTPRT SNP 20 G A 40842323 40842323 Baylor RTTN 25914 hgsc.bcm.edu GRCh37 18 67855386 67855386 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000255674.6:c.1263A>T p.Ser421= p.S421= ENST00000255674 NM_173630.3 421 tcA/tcT 0 Silent T 63 RTTN SNP 18 T A 66006366 66006366 Baylor SELP 6403 hgsc.bcm.edu GRCh37 1 169582923 169582924 + stop_gained,frameshift_variant Nonsense_Mutation DEL GG GG - novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 GG GG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263686.6:c.489_490del p.Cys163Ter p.C163* ENST00000263686 NM_003005.3 163 tgCCag/tgag 0 Frame_Shift_Del GG 47 SELP DEL 1 GG - 167849548 167849547 Baylor SEMA4G 57715 hgsc.bcm.edu GRCh37 10 102743107 102743107 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000210633.3:c.1751A>T p.Asp584Val p.D584V ENST00000210633 584 gAt/gTt 0 Missense_Mutation A 12 SEMA4G SNP 10 A T 102733097 102733097 Baylor SLC17A1 6568 hgsc.bcm.edu GRCh37 6 25819366 25819366 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000244527.4:c.546C>G p.Pro182= p.P182= ENST00000244527 NM_005074.3 182 ccC/ccG 0 Silent G 35 SLC17A1 SNP 6 G C 25927345 25927345 Baylor TOX4 9878 hgsc.bcm.edu GRCh37 14 21961324 21961324 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000405508.1:c.1549G>C p.Glu517Gln p.E517Q ENST00000405508 517 Gag/Cag 0 Missense_Mutation G 45 TOX4 SNP 14 G C 21031164 21031164 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 Missense_Mutation T 49 TP53 SNP 17 T C 7518915 7518915 Baylor TRIP13 9319 hgsc.bcm.edu GRCh37 5 914604 914604 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000166345.3:c.1045C>T p.Gln349Ter p.Q349* ENST00000166345 NM_004237.3 349 Cag/Tag 0 Nonsense_Mutation C 25 TRIP13 SNP 5 C T 967604 967604 Baylor UBP1 7342 hgsc.bcm.edu GRCh37 3 33450220 33450220 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000283629.3:c.889C>T p.Pro297Ser p.P297S ENST00000283629 NM_014517.4 297 Cca/Tca 0 Missense_Mutation G 42 UBP1 SNP 3 G A 33425224 33425224 Baylor USH2A 7399 hgsc.bcm.edu GRCh37 1 216595383 216595383 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1553-01 TCGA-24-1553-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000307340.3:c.296C>T p.Ala99Val p.A99V ENST00000307340 NM_206933.2 99 gCc/gTc 0 Missense_Mutation G 42 USH2A SNP 1 G A 214662006 214662006 Baylor ARHGEF10L 55160 broad.mit.edu GRCh37 1 18014131 18014131 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000361221.3:c.3073G>A p.Gly1025Ser p.G1025S ENST00000361221 NM_018125.3 1025 Ggc/Agc 0 Missense_Mutation G 39 ARHGEF10L SNP 1 G A 17886718 17886718 Broad ZNF648 127665 broad.mit.edu GRCh37 1 182027051 182027051 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000339948.3:c.95A>G p.Asn32Ser p.N32S ENST00000339948 NM_001009992.1 32 aAc/aGc 0 Missense_Mutation T 60 ZNF648 SNP 1 T C 180293674 180293674 Broad ASB13 79754 broad.mit.edu GRCh37 10 5683797 5683797 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000357700.6:c.645G>T p.Gly215= p.G215= ENST00000357700 NM_024701.3 215 ggG/ggT 0 Silent C 30 ASB13 SNP 10 C A 5723803 5723803 Broad TCERG1L 256536 broad.mit.edu GRCh37 10 133106529 133106529 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000368642.4:c.615G>A p.Pro205= p.P205= ENST00000368642 NM_174937.3 205 ccG/ccA 0 Silent C 23 TCERG1L SNP 10 C T 132996519 132996519 Broad B4GALNT4 338707 broad.mit.edu GRCh37 11 376331 376331 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000329962.6:c.1277T>A p.Phe426Tyr p.F426Y ENST00000329962 NM_178537.4 426 tTc/tAc 0 Missense_Mutation T 62 B4GALNT4 SNP 11 T A 366331 366331 Broad OR10A4 283297 broad.mit.edu GRCh37 11 6898122 6898122 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000379829.2:c.244A>T p.Met82Leu p.M82L ENST00000379829 NM_207186.2 82 Atg/Ttg 0 Missense_Mutation A 12 OR10A4 SNP 11 A T 6854698 6854698 Broad OR4A15 81328 broad.mit.edu GRCh37 11 55135464 55135464 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000314706.3:c.105C>A p.Asn35Lys p.N35K ENST00000314706 NM_001005275.1 35 aaC/aaA 0 Missense_Mutation C 17 OR4A15 SNP 11 C A 54892040 54892040 Broad OR4S2 219431 broad.mit.edu GRCh37 11 55418785 55418785 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000312422.2:c.406C>T p.Arg136Trp p.R136W ENST00000312422 NM_001004059.2 136 Cgg/Tgg 0 Missense_Mutation C 23 OR4S2 SNP 11 C T 55175361 55175361 Broad TIRAP 114609 broad.mit.edu GRCh37 11 126162948 126162948 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000392678.3:c.644G>A p.Arg215His p.R215H ENST00000392678 NM_148910.2 215 cGt/cAt 0 Missense_Mutation G 40 TIRAP SNP 11 G A 125668158 125668158 Broad TRHDE 29953 broad.mit.edu GRCh37 12 72893404 72893404 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000261180.4:c.1576G>A p.Ala526Thr p.A526T ENST00000261180 NM_013381.2 526 Gca/Aca 0 Missense_Mutation G 38 TRHDE SNP 12 G A 71179671 71179671 Broad LPAR6 10161 broad.mit.edu GRCh37 13 48986113 48986113 + synonymous_variant Silent SNP T T G novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000378434.4:c.447A>C p.Ala149= p.A149= ENST00000378434 NM_005767.5 149 gcA/gcC 0 Silent T 59 LPAR6 SNP 13 T G 47884114 47884114 Broad TGM1 7051 broad.mit.edu GRCh37 14 24723982 24723982 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000206765.6:c.1976T>C p.Leu659Pro p.L659P ENST00000206765 NM_000359.2 659 cTt/cCt 0 Missense_Mutation A 3 TGM1 SNP 14 A G 23793822 23793822 Broad SPTB 6710 broad.mit.edu GRCh37 14 65261222 65261222 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000389722.3:c.1758C>G p.Ala586= p.A586= ENST00000389722 NM_001024858.2 586 gcC/gcG 0 Silent G 47 SPTB SNP 14 G C 64330975 64330975 Broad ZFYVE26 23503 broad.mit.edu GRCh37 14 68264437 68264437 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000347230.4:c.2284C>T p.Arg762Cys p.R762C ENST00000347230 NM_015346.3 762 Cgt/Tgt 0 Missense_Mutation G 40 ZFYVE26 SNP 14 G A 67334190 67334190 Broad SEMA4B 10509 broad.mit.edu GRCh37 15 90760763 90760763 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000411539.2:c.250G>A p.Val84Met p.V84M ENST00000411539 NM_198925.2 84 Gtg/Atg 0 Missense_Mutation G 40 SEMA4B SNP 15 G A 88561767 88561767 Broad SYNM 23336 broad.mit.edu GRCh37 15 99669768 99669768 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000336292.6:c.1200G>A p.Ser400= p.S400= ENST00000336292 NM_145728.2 400 tcG/tcA 0 Silent G 39 SYNM SNP 15 G A 97487291 97487291 Broad CNTNAP4 85445 broad.mit.edu GRCh37 16 76569458 76569458 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000478060.1:c.2553A>G p.Arg851= p.R851= ENST00000478060 NM_138994.3 851 agA/agG 0 Silent A 10 CNTNAP4 SNP 16 A G 75126959 75126959 Broad CTC1 80169 broad.mit.edu GRCh37 17 8139569 8139569 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000315684.8:c.884G>A p.Arg295His p.R295H ENST00000315684 NM_025099.5 295 cGc/cAc 0 Missense_Mutation C 27 C17orf68 SNP 17 C T 8080294 8080294 Broad CHMP1B 57132 broad.mit.edu GRCh37 18 11851695 11851695 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000526991.2:c.185C>T p.Ala62Val p.A62V ENST00000526991 NM_020412.4 62 gCg/gTg 0 Missense_Mutation C 27 CHMP1B SNP 18 C T 11841695 11841695 Broad ZNF101 94039 broad.mit.edu GRCh37 19 19791053 19791053 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000592502.1:c.1255G>A p.Gly419Arg p.G419R ENST00000592502 419 Ggg/Agg 0 Missense_Mutation G 39 ZNF101 SNP 19 G A 19652053 19652053 Broad CCT4 10575 broad.mit.edu GRCh37 2 62099331 62099331 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000394440.3:c.1377G>T p.Glu459Asp p.E459D ENST00000394440 NM_006430.3 459 gaG/gaT 0 Missense_Mutation C 24 CCT4 SNP 2 C A 61952835 61952835 Broad IL1RL1 9173 broad.mit.edu GRCh37 2 102958715 102958715 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000233954.1:c.643G>A p.Gly215Arg p.G215R ENST00000233954 NM_016232.4 215 Gga/Aga 0 Missense_Mutation G 39 IL1RL1 SNP 2 G A 102325147 102325147 Broad MAP2 4133 broad.mit.edu GRCh37 2 210559155 210559155 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000360351.4:c.2261A>G p.Glu754Gly p.E754G ENST00000360351 NM_002374.3 754 gAg/gGg 0 Missense_Mutation A 11 MAP2 SNP 2 A G 210267400 210267400 Broad LIPI 149998 broad.mit.edu GRCh37 21 15561678 15561678 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000344577.2:c.172T>C p.Phe58Leu p.F58L ENST00000344577 NM_198996.2 58 Ttt/Ctt 0 Missense_Mutation A 4 LIPI SNP 21 A G 14483549 14483549 Broad STAG1 10274 broad.mit.edu GRCh37 3 136323296 136323296 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000383202.2:c.152G>A p.Arg51Gln p.R51Q ENST00000383202 NM_005862.2 51 cGa/cAa 0 Missense_Mutation C 31 STAG1 SNP 3 C T 137805986 137805986 Broad APOD 347 broad.mit.edu GRCh37 3 195295923 195295923 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000343267.3:c.418C>A p.Leu140Ile p.L140I ENST00000343267 NM_001647.3 140 Ctt/Att 0 Missense_Mutation G 36 APOD SNP 3 G T 196777212 196777212 Broad NAA15 80155 broad.mit.edu GRCh37 4 140280992 140280992 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000296543.5:c.1353C>G p.Tyr451Ter p.Y451* ENST00000296543 NM_057175.3 451 taC/taG 0 Nonsense_Mutation C 17 NAA15 SNP 4 C G 140500442 140500442 Broad TBC1D9 23158 broad.mit.edu GRCh37 4 141555170 141555170 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000442267.2:c.2678G>A p.Arg893His p.R893H ENST00000442267 NM_015130.2 893 cGc/cAc 0 Missense_Mutation C 27 TBC1D9 SNP 4 C T 141774620 141774620 Broad ADAMTS16 170690 broad.mit.edu GRCh37 5 5318299 5318299 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000274181.7:c.3464C>T p.Ala1155Val p.A1155V ENST00000274181 NM_139056.2 1155 gCt/gTt 0 Missense_Mutation C 28 ADAMTS16 SNP 5 C T 5371299 5371299 Broad MEF2C 4208 broad.mit.edu GRCh37 5 88027630 88027630 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000340208.5:c.780C>A p.Pro260= p.P260= ENST00000340208 NM_001193347.1 260 ccC/ccA 0 Silent G 43 MEF2C SNP 5 G T 88063386 88063386 Broad FAM81B 153643 broad.mit.edu GRCh37 5 94785911 94785911 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000283357.5:c.1284G>A p.Met428Ile p.M428I ENST00000283357 NM_152548.2 428 atG/atA 0 Missense_Mutation G 47 FAM81B SNP 5 G A 94811667 94811667 Broad PCDHB5 26167 broad.mit.edu GRCh37 5 140515671 140515671 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000231134.5:c.655G>C p.Ala219Pro p.A219P ENST00000231134 NM_015669.2 219 Gct/Cct 0 Missense_Mutation G 42 PCDHB5 SNP 5 G C 140495855 140495855 Broad AIM1 202 broad.mit.edu GRCh37 6 106967876 106967876 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000369066.3:c.1569A>C p.Glu523Asp p.E523D ENST00000369066 NM_001624.2 523 gaA/gaC 0 Missense_Mutation A 1 AIM1 SNP 6 A C 107074569 107074569 Broad PPP1R3A 5506 broad.mit.edu GRCh37 7 113522144 113522144 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000284601.3:c.916G>T p.Asp306Tyr p.D306Y ENST00000284601 NM_002711.3 306 Gat/Tat 0 Missense_Mutation C 32 PPP1R3A SNP 7 C A 113309380 113309380 Broad LPL 4023 broad.mit.edu GRCh37 8 19811856 19811856 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000311322.8:c.767G>C p.Gly256Ala p.G256A ENST00000311322 NM_000237.2 256 gGa/gCa 0 Missense_Mutation G 41 LPL SNP 8 G C 19856136 19856136 Broad ZFAND1 79752 broad.mit.edu GRCh37 8 82626245 82626245 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000220669.5:c.388C>T p.Arg130Ter p.R130* ENST00000220669 NM_024699.2 130 Cga/Tga 0 Nonsense_Mutation G 40 ZFAND1 SNP 8 G A 82788800 82788800 Broad TOPORS 10210 broad.mit.edu GRCh37 9 32542101 32542101 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000360538.2:c.2422G>T p.Glu808Ter p.E808* ENST00000360538 NM_005802.4 808 Gaa/Taa 0 Nonsense_Mutation C 31 TOPORS SNP 9 C A 32532101 32532101 Broad TCEAL6 158931 broad.mit.edu GRCh37 X 101396192 101396192 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown x x x ENST00000372774.3:c.112G>A p.Ala38Thr p.A38T ENST00000372774 NM_001006938.2 38 Gcg/Acg 0 Missense_Mutation C 27 TCEAL6 SNP 23 C T 101282848 101282848 Broad KIAA1210 57481 broad.mit.edu GRCh37 X 118221320 118221320 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000402510.2:c.3873G>A p.Gln1291= p.Q1291= ENST00000402510 NM_020721.1 1291 caG/caA 0 Silent C 28 KIAA1210 SNP 23 C T 118105348 118105348 Broad TP53 7157 broad.mit.edu GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 Missense_Mutation G 38 TP53 SNP 17 G A 7517846 7517846 Broad SFRP5 6425 broad.mit.edu GRCh37 10 99527259 99527285 + stop_lost,3_prime_UTR_variant Nonstop_Mutation DEL GAGGAGTGCCCTTCAGTGGGGCTCTGC GAGGAGTGCCCTTCAGTGGGGCTCTGC - novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000266066.3:c.940_*12del *314* ENST00000266066 NM_003015.3 314 0 Nonstop_Mutation GAGGAGTGCCCTTCAGTGGGGCTCTGC 41 SFRP5 DEL 10 - GAGGAGTGCCCTTCAGTGGGGCTCTGC 99517275 99517249 Broad RAB11FIP1 80223 broad.mit.edu GRCh37 8 37756849 37756850 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-25-1321-01 TCGA-25-1321-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000330843.4:c.110dup p.Thr38HisfsTer90 p.T38Hfs*90 ENST00000330843 NM_001002814.2 37 ggc/ggGc 0 Frame_Shift_Ins - 46 RAB11FIP1 INS 8 C - 37876008 37876007 Broad APC 324 hgsc.bcm.edu GRCh37 5 112176619 112176619 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000257430.4:c.5328A>G p.Val1776= p.V1776= ENST00000257430 NM_000038.5 1776 gtA/gtG 0 Silent A 13 APC SNP 5 A G 112204518 112204518 Baylor BMI1 648 hgsc.bcm.edu GRCh37 10 22615464 22615464 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000376663.3:c.86C>A p.Thr29Lys p.T29K ENST00000376663 NM_005180.8 29 aCa/aAa 0 Missense_Mutation C 17 BMI1 SNP 10 C A 22655470 22655470 Baylor NOXRED1 122945 hgsc.bcm.edu GRCh37 14 77880459 77880459 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000380835.2:c.167A>T p.Asn56Ile p.N56I ENST00000380835 NM_001113475.2 56 aAt/aTt 0 Missense_Mutation T 52 C14orf148 SNP 14 T A 76950212 76950212 Baylor FAM212B 55924 hgsc.bcm.edu GRCh37 1 112269817 112269817 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357260.5:c.667G>T p.Asp223Tyr p.D223Y ENST00000357260 NM_019099.4 223 Gac/Tac 0 Missense_Mutation C 29 C1orf183 SNP 1 C A 112071340 112071340 Baylor CLEC4F 165530 hgsc.bcm.edu GRCh37 2 71036484 71036484 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000272367.2:c.1689A>C p.Arg563Ser p.R563S ENST00000272367 NM_001258027.1 563 agA/agC 0 Missense_Mutation T 62 CLEC4F SNP 2 T G 70889992 70889992 Baylor CNGA3 1261 hgsc.bcm.edu GRCh37 2 98994252 98994252 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393504.1:c.204G>T p.Gln68His p.Q68H ENST00000393504 NM_001298.2 68 caG/caT 0 Missense_Mutation G 35 CNGA3 SNP 2 G T 98360684 98360684 Baylor DENND1A 57706 hgsc.bcm.edu GRCh37 9 126392756 126392756 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373624.2:c.619-1G>C p.X207_splice ENST00000373624 NM_020946.1 0 Splice_Site_SNP C 28 DENND1A SNP 9 C G 125432577 125432577 Baylor DMXL2 23312 hgsc.bcm.edu GRCh37 15 51791851 51791851 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000543779.2:c.3570T>A p.Asn1190Lys p.N1190K ENST00000543779 1190 aaT/aaA 0 Missense_Mutation A 16 DMXL2 SNP 15 A T 49579143 49579143 Baylor FAM102A 399665 hgsc.bcm.edu GRCh37 9 130716122 130716122 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373095.1:c.229C>T p.Leu77= p.L77= ENST00000373095 NM_001035254.2 77 Ctg/Ttg 0 Silent G 35 FAM102A SNP 9 G A 129755943 129755943 Baylor GPR4 2828 hgsc.bcm.edu GRCh37 19 46094160 46094160 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000323040.4:c.965C>A p.Thr322Asn p.T322N ENST00000323040 NM_005282.2 322 aCc/aAc 0 Missense_Mutation G 44 GPR4 SNP 19 G T 50786000 50786000 Baylor GTF2IRD1 9569 hgsc.bcm.edu GRCh37 7 74005218 74005218 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000455841.2:c.2559C>T p.Asp853= p.D853= ENST00000455841 NM_001199207.1 853 gaC/gaT 0 Silent C 19 GTF2IRD1 SNP 7 C T 73643154 73643154 Baylor HTATSF1 27336 hgsc.bcm.edu GRCh37 X 135579862 135579862 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000535601.1:c.19G>C p.Asp7His p.D7H ENST00000535601 NM_001163280.1 7 Gat/Cat 0 Missense_Mutation G 41 HTATSF1 SNP 23 G C 135407528 135407528 Baylor IFI6 2537 hgsc.bcm.edu GRCh37 1 27992950 27992950 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000339145.4:c.359G>C p.Gly120Ala p.G120A ENST00000339145 120 gGt/gCt 0 Missense_Mutation C 18 IFI6 SNP 1 C G 27865537 27865537 Baylor INADL 10207 hgsc.bcm.edu GRCh37 1 62365312 62365312 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371158.2:c.3189G>T p.Trp1063Cys p.W1063C ENST00000371158 NM_176877.2 1063 tgG/tgT 0 Missense_Mutation G 43 INADL SNP 1 G T 62137900 62137900 Baylor IVNS1ABP 10625 hgsc.bcm.edu GRCh37 1 185270654 185270654 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367498.3:c.807C>T p.Ser269= p.S269= ENST00000367498 NM_006469.4 269 agC/agT 0 Silent G 46 IVNS1ABP SNP 1 G A 183537277 183537277 Baylor KAL1 3730 hgsc.bcm.edu GRCh37 X 8555963 8555963 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262648.3:c.598C>A p.Leu200Met p.L200M ENST00000262648 NM_000216.2 200 Ctg/Atg 0 Missense_Mutation G 34 KAL1 SNP 23 G T 8515963 8515963 Baylor KIAA1217 56243 hgsc.bcm.edu GRCh37 10 24832403 24832403 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000376454.3:c.4204G>T p.Asp1402Tyr p.D1402Y ENST00000376454 NM_019590.3 1402 Gat/Tat 0 Missense_Mutation G 45 KIAA1217 SNP 10 G T 24872409 24872409 Baylor UNC79 57578 hgsc.bcm.edu GRCh37 14 94063746 94063746 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000256339.4:c.2701T>C p.Ser901Pro p.S901P ENST00000256339 NM_020818.3 901 Tca/Cca 0 Missense_Mutation T 54 KIAA1409 SNP 14 T C 93133499 93133499 Baylor LAMA1 284217 hgsc.bcm.edu GRCh37 18 6986307 6986307 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000389658.3:c.5208C>T p.Tyr1736= p.Y1736= ENST00000389658 NM_005559.3 1736 taC/taT 0 Silent G 44 LAMA1 SNP 18 G A 6976307 6976307 Baylor LCT 3938 hgsc.bcm.edu GRCh37 2 136575148 136575148 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264162.2:c.1470G>T p.Glu490Asp p.E490D ENST00000264162 NM_002299.2 490 gaG/gaT 0 Missense_Mutation C 28 LCT SNP 2 C A 136291618 136291618 Baylor LGR6 59352 hgsc.bcm.edu GRCh37 1 202249950 202249962 + frameshift_variant Frame_Shift_Del DEL GCTTCGAGGGGCT GCTTCGAGGGGCT - novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 GCTTCGAGGGGCT GCTTCGAGGGGCT . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367278.3:c.688_700del p.Phe230ThrfsTer6 p.F230Tfs*6 ENST00000367278 NM_001017403.1 229 aGCTTCGAGGGGCTg/ag 0 Frame_Shift_Del GCTTCGAGGGGCT 34 LGR6 DEL 1 GCTTCGAGGGGCT - 200516585 200516573 Baylor MAN2B2 23324 hgsc.bcm.edu GRCh37 4 6619181 6619181 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000285599.3:c.2776G>T p.Asp926Tyr p.D926Y ENST00000285599 NM_015274.1 926 Gac/Tac 0 Missense_Mutation G 41 MAN2B2 SNP 4 G T 6670082 6670082 Baylor MAP3K10 4294 hgsc.bcm.edu GRCh37 19 40704297 40704297 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000253055.3:c.698C>A p.Ala233Asp p.A233D ENST00000253055 NM_002446.3 233 gCc/gAc 0 Missense_Mutation C 26 MAP3K10 SNP 19 C A 45396137 45396137 Baylor MFSD2A 84879 hgsc.bcm.edu GRCh37 1 40422814 40422814 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000372809.5:c.149C>G p.Ala50Gly p.A50G ENST00000372809 NM_001136493.1 50 gCa/gGa 0 Missense_Mutation C 25 MFSD2A SNP 1 C G 40195401 40195401 Baylor MICAL1 64780 hgsc.bcm.edu GRCh37 6 109766139 109766139 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358807.3:c.2941A>C p.Lys981Gln p.K981Q ENST00000358807 NM_022765.3 981 Aaa/Caa 0 Missense_Mutation T 62 MICAL1 SNP 6 T G 109872832 109872832 Baylor MYCL 4610 hgsc.bcm.edu GRCh37 1 40363242 40363242 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000397332.2:c.987G>C p.Ser329= p.S329= ENST00000397332 NM_001033082.2 329 tcG/tcC 0 Silent C 27 MYCL1 SNP 1 C G 40135829 40135829 Baylor MYPN 84665 hgsc.bcm.edu GRCh37 10 69926392 69926392 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358913.5:c.1942G>C p.Glu648Gln p.E648Q ENST00000358913 NM_032578.3 648 Gag/Cag 0 Missense_Mutation G 33 MYPN SNP 10 G C 69596398 69596398 Baylor NFASC 23114 hgsc.bcm.edu GRCh37 1 204939827 204939827 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000339876.6:c.1087A>T p.Asn363Tyr p.N363Y ENST00000339876 NM_001005388.2 363 Aac/Tac 0 Missense_Mutation A 1 NFASC SNP 1 A T 203206450 203206450 Baylor POM121 9883 hgsc.bcm.edu GRCh37 7 72420421 72420421 + 3_prime_UTR_variant 3'UTR DEL T T - novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000395270.1:c.*1414del *472* ENST00000395270 NM_001257190.2 0 Frame_Shift_Del T 56 NSUN5P2 DEL 7 T - 72058357 72058357 Baylor TENM1 10178 hgsc.bcm.edu GRCh37 X 123517633 123517633 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000422452.2:c.7148G>A p.Arg2383Lys p.R2383K ENST00000422452 NM_001163279.1 2383 aGg/aAg 0 Missense_Mutation C 24 ODZ1 SNP 23 C T 123345314 123345314 Baylor PDAP1 11333 hgsc.bcm.edu GRCh37 7 99001069 99001069 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000350498.3:c.165del p.Lys56AsnfsTer3 p.K56Nfs*3 ENST00000350498 NM_014891.6 55 aaG/aa 0 Frame_Shift_Del C 32 PDAP1 DEL 7 C - 98839005 98839005 Baylor PDE6H 5149 hgsc.bcm.edu GRCh37 12 15131081 15131081 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000266395.2:c.134+1G>C p.X45_splice ENST00000266395 NM_006205.2 0 Splice_Site_SNP G 44 PDE6H SNP 12 G C 15022348 15022348 Baylor PDGFC 56034 hgsc.bcm.edu GRCh37 4 157731997 157731997 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000502773.1:c.487G>T p.Val163Phe p.V163F ENST00000502773 NM_016205.2 163 Gtc/Ttc 0 Missense_Mutation C 17 PDGFC SNP 4 C A 157951447 157951447 Baylor PGBD1 84547 hgsc.bcm.edu GRCh37 6 28269538 28269538 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000405948.2:c.1907T>G p.Leu636Trp p.L636W ENST00000405948 NM_001184743.1 636 tTg/tGg 0 Missense_Mutation T 63 PGBD1 SNP 6 T G 28377517 28377517 Baylor PPHLN1 51535 hgsc.bcm.edu GRCh37 12 42729719 42729719 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000395568.2:c.15A>C p.Gly5= p.G5= ENST00000395568 NM_016488.6 5 ggA/ggC 0 Silent A 10 PPHLN1 SNP 12 A C 41015986 41015986 Baylor RAPGEF6 51735 hgsc.bcm.edu GRCh37 5 130815373 130815373 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000296859.6:c.1914A>C p.Lys638Asn p.K638N ENST00000296859 638 aaA/aaC 0 Missense_Mutation T 64 RAPGEF6 SNP 5 T G 130843272 130843272 Baylor RND1 27289 hgsc.bcm.edu GRCh37 12 49259510 49259510 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000309739.5:c.41G>T p.Cys14Phe p.C14F ENST00000309739 NM_014470.3 14 tGt/tTt 0 Missense_Mutation C 17 RND1 SNP 12 C A 47545777 47545777 Baylor RNF128 79589 hgsc.bcm.edu GRCh37 X 106034427 106034427 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000255499.2:c.1116A>G p.Thr372= p.T372= ENST00000255499 NM_194463.1 372 acA/acG 0 Silent A 7 RNF128 SNP 23 A G 105921083 105921083 Baylor SARS2 54938 hgsc.bcm.edu GRCh37 19 39421226 39421226 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000600042.1:c.151G>T p.Gly51Cys p.G51C ENST00000600042 NM_001145901.1 51 Ggc/Tgc 0 Missense_Mutation C 22 SARS2 SNP 19 C A 44113066 44113066 Baylor SEC63 11231 hgsc.bcm.edu GRCh37 6 108246057 108246057 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000369002.4:c.304G>T p.Glu102Ter p.E102* ENST00000369002 NM_007214.4 102 Gaa/Taa 0 Nonsense_Mutation C 32 SEC63 SNP 6 C A 108352750 108352750 Baylor SLAMF1 6504 hgsc.bcm.edu GRCh37 1 160616707 160616707 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000302035.6:c.29C>T p.Thr10Ile p.T10I ENST00000302035 NM_003037.2 10 aCc/aTc 0 Missense_Mutation G 44 SLAMF1 SNP 1 G A 158883331 158883331 Baylor SLC23A2 9962 hgsc.bcm.edu GRCh37 20 4837800 4837800 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379333.1:c.1771G>C p.Gly591Arg p.G591R ENST00000379333 NM_203327.1 591 Ggg/Cgg 0 Missense_Mutation C 24 SLC23A2 SNP 20 C G 4785800 4785800 Baylor SLC26A4 5172 hgsc.bcm.edu GRCh37 7 107342393 107342393 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000265715.3:c.1925C>A p.Ser642Tyr p.S642Y ENST00000265715 NM_000441.1 642 tCt/tAt 0 Missense_Mutation C 32 SLC26A4 SNP 7 C A 107129629 107129629 Baylor SNPH 9751 hgsc.bcm.edu GRCh37 20 1277867 1277867 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381873.3:c.129C>G p.Tyr43Ter p.Y43* ENST00000381873 NM_014723.2 43 taC/taG 0 Nonsense_Mutation C 17 SNPH SNP 20 C G 1225867 1225867 Baylor ST3GAL2 6483 hgsc.bcm.edu GRCh37 16 70417119 70417119 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393640.4:c.733T>C p.Ser245Pro p.S245P ENST00000393640 245 Tcc/Ccc 0 Missense_Mutation A 10 ST3GAL2 SNP 16 A G 68974620 68974620 Baylor STC2 8614 hgsc.bcm.edu GRCh37 5 172755131 172755131 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000265087.4:c.66G>C p.Ala22= p.A22= ENST00000265087 NM_003714.2 22 gcG/gcC 0 Silent C 27 STC2 SNP 5 C G 172687737 172687737 Baylor TMED6 146456 hgsc.bcm.edu GRCh37 16 69377331 69377331 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000288025.3:c.702T>C p.Asp234= p.D234= ENST00000288025 NM_144676.3 234 gaT/gaC 0 Silent A 16 TMED6 SNP 16 A G 67934832 67934832 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577094 7577094 + missense_variant Missense_Mutation SNP G G A rs28934574 Unknown TCGA-24-1567-01 TCGA-24-1567-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.844C>T p.Arg282Trp p.R282W ENST00000269305 NM_001126112.2 282 Cgg/Tgg 0 Missense_Mutation G 39 TP53 SNP 17 G A 7517819 7517819 Baylor TTC18 118491 hgsc.bcm.edu GRCh37 10 75114530 75114530 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000310715.3:c.25A>G p.Arg9Gly p.R9G ENST00000310715 NM_145170.3 9 Aga/Gga 0 Missense_Mutation T 55 TTC18 SNP 10 T C 74784536 74784536 Baylor VAV3 10451 hgsc.bcm.edu GRCh37 1 108299882 108299882 + splice_donor_variant Splice_Site SNP C C G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000370056.4:c.1086+1G>C p.X362_splice ENST00000370056 NM_006113.4 0 Splice_Site_SNP C 18 VAV3 SNP 1 C G 108101405 108101405 Baylor VIT 5212 hgsc.bcm.edu GRCh37 2 37010538 37010538 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379242.3:c.903A>G p.Gly301= p.G301= ENST00000379242 NM_053276.3 301 ggA/ggG 0 Silent A 11 VIT SNP 2 A G 36864042 36864042 Baylor XRN2 22803 hgsc.bcm.edu GRCh37 20 21336789 21336789 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1567-01 TCGA-24-1567-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000377191.3:c.2092G>T p.Glu698Ter p.E698* ENST00000377191 NM_012255.3 698 Gag/Tag 0 Nonsense_Mutation G 33 XRN2 SNP 20 G T 21284789 21284789 Baylor SLC6A11 6538 genome.wustl.edu GRCh37 3 10916711 10916711 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000254488.2:c.822G>A p.Thr274= p.T274= ENST00000254488 NM_014229.1 274 acG/acA 0 Silent G 40 SLC6A11 SNP 3 G A 10891711 10891711 WashU OR4L1 122742 genome.wustl.edu GRCh37 14 20528253 20528253 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315683.1:c.50T>C p.Phe17Ser p.F17S ENST00000315683 NM_001004717.1 17 tTt/tCt 0 Missense_Mutation T 64 OR4L1 SNP 14 T C 19598093 19598093 WashU KCNJ12 3768 genome.wustl.edu GRCh37 17 21318782 21318782 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 G G G A G A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000583088.1:c.128G>A p.Arg43His p.R43H ENST00000583088 NM_021012.4 43 cGc/cAc 0 Missense_Mutation G 38 KCNJ12 SNP 17 G A 21259375 21259375 WashU RTDR1 27156 genome.wustl.edu GRCh37 22 23401715 23401715 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216036.4:c.972C>T p.Tyr324= p.Y324= ENST00000216036 NM_014433.2 324 taC/taT 0 Silent G 40 RTDR1 SNP 22 G A 21731715 21731715 WashU CDH10 1008 genome.wustl.edu GRCh37 5 24537498 24537498 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264463.4:c.517T>C p.Ser173Pro p.S173P ENST00000264463 NM_006727.3 173 Tct/Cct 0 Missense_Mutation A 10 CDH10 SNP 5 A G 24573255 24573255 WashU KRAS 3845 genome.wustl.edu GRCh37 12 25398284 25398284 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256078.4:c.35G>T p.Gly12Val p.G12V ENST00000256078 NM_033360.2 12 gGt/gTt 0 Missense_Mutation C 18 KRAS SNP 12 C A 25289551 25289551 WashU TRIM39 56658 genome.wustl.edu GRCh37 6 30308086 30308086 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376656.4:c.841A>G p.Ile281Val p.I281V ENST00000376656 NM_021253.3 281 Atc/Gtc 0 Missense_Mutation A 12 TRIM39 SNP 6 A G 30416065 30416065 WashU C2 717 genome.wustl.edu GRCh37 6 31896508 31896508 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299367.5:c.257-1G>A p.X86_splice ENST00000299367 NM_000063.4 0 Splice_Site_SNP G 34 C2 SNP 6 G A 32004487 32004487 WashU DLGAP4 22839 genome.wustl.edu GRCh37 20 35128068 35128068 + intron_variant Intron SNP G G A novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373913.3:c.2090+344G>A *697* ENST00000373913 0 Silent G 35 DLGAP4 SNP 20 G A 34561482 34561482 WashU KBTBD7 84078 genome.wustl.edu GRCh37 13 41767783 41767783 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379483.3:c.611G>T p.Ser204Ile p.S204I ENST00000379483 NM_032138.4 204 aGc/aTc 0 Missense_Mutation C 28 KBTBD7 SNP 13 C A 40665783 40665783 WashU DST 667 genome.wustl.edu GRCh37 6 56481863 56481863 + intron_variant Intron SNP C C T novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244364.6:c.3319-2581G>A *1107* ENST00000244364 NM_015548.4 0 Silent C 31 DST SNP 6 C T 56589822 56589822 WashU PTGDR2 11251 genome.wustl.edu GRCh37 11 60620803 60620803 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332539.4:c.393G>T p.Leu131= p.L131= ENST00000332539 NM_004778.2 131 ctG/ctT 0 Silent C 25 GPR44 SNP 11 C A 60377379 60377379 WashU CDH17 1015 genome.wustl.edu GRCh37 8 95188826 95188826 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000027335.3:c.367C>T p.Arg123Ter p.R123* ENST00000027335 NM_004063.3 123 Cga/Tga 0 Nonsense_Mutation G 37 CDH17 SNP 8 G A 95258002 95258002 WashU IGHG2 3501 genome.wustl.edu GRCh37 14 106109601 106109601 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390545.2:c.920T>C p.Met307Thr p.M307T ENST00000390545 307 aTg/aCg 0 Missense_Mutation A 8 IGHG2 SNP 14 A G 105180646 105180646 WashU MMP21 118856 genome.wustl.edu GRCh37 10 127455253 127455253 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368808.3:c.1688A>G p.His563Arg p.H563R ENST00000368808 NM_147191.1 563 cAt/cGt 0 Missense_Mutation T 51 MMP21 SNP 10 T C 127445243 127445243 WashU FBXW7 55294 genome.wustl.edu GRCh37 4 153247289 153247289 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000281708.4:c.1513C>T p.Arg505Cys p.R505C ENST00000281708 NM_033632.3 505 Cgc/Tgc 0 Missense_Mutation G 39 FBXW7 SNP 4 G A 153466739 153466739 WashU PTPRN2 5799 genome.wustl.edu GRCh37 7 157361628 157361628 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389418.4:c.2868C>T p.Val956= p.V956= ENST00000389418 NM_002847.3 956 gtC/gtT 0 Silent G 41 PTPRN2 SNP 7 G A 157054389 157054389 WashU ABCB11 8647 genome.wustl.edu GRCh37 2 169791766 169791766 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263817.6:c.2984C>T p.Ala995Val p.A995V ENST00000263817 NM_003742.2 995 gCg/gTg 0 Missense_Mutation G 38 ABCB11 SNP 2 G A 169500012 169500012 WashU ERGIC1 57222 genome.wustl.edu GRCh37 5 172324048 172324048 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393784.3:c.126G>A p.Ser42= p.S42= ENST00000393784 NM_001031711.2 42 tcG/tcA 0 Silent G 39 ERGIC1 SNP 5 G A 172256654 172256654 WashU PTPRS 5802 genome.wustl.edu GRCh37 19 5244110 5244110 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000357368.4:c.1372del p.Arg458AlafsTer28 p.R458Afs*28 ENST00000357368 NM_002850.3 458 Cgc/gc 0 Frame_Shift_Del G 39 PTPRS DEL 19 G - 5195110 5195110 WashU KCNJ11 3767 genome.wustl.edu GRCh37 11 17408538 17408545 + frameshift_variant Frame_Shift_Del DEL GGGCCCGC GGGCCCGC - novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 GGGCCCGC GGGCCCGC GGGCCCGC - GGGCCCGC GGGCCCGC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339994.4:c.1094_1101del p.Arg365ProfsTer130 p.R365Pfs*130 ENST00000339994 NM_000525.3 365 cGCGGGCCC/c 0 Frame_Shift_Del GGGCCCGC 43 KCNJ11 DEL 11 GGGCCCGC - 17365121 17365114 WashU ADCYAP1R1 117 genome.wustl.edu GRCh37 7 31124409 31124409 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000396211.2:c.496del p.Val166SerfsTer25 p.V166Sfs*25 ENST00000396211 166 Gtc/tc 0 Frame_Shift_Del G 40 ADCYAP1R1 DEL 7 G - 31090934 31090934 WashU SLC39A6 25800 genome.wustl.edu GRCh37 18 33702137 33702139 + inframe_deletion In_Frame_Del DEL CTA CTA - novel Unknown TCGA-25-1316-01 TCGA-25-1316-10 TA TA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000269187.5:c.1235_1237del p.Ile412_Glu413delinsLys p.I412_E413delinsK ENST00000269187 NM_012319.3 412 aTAGaa/aaa 0 Indel -TA 32 SLC39A6 Indel 18 -TA G- 31956137 31956135 WashU ACOX1 51 hgsc.bcm.edu GRCh37 17 73945442 73945442 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000293217.5:c.1585-1G>C p.X529_splice ENST00000293217 NM_004035.6 0 Splice_Site_SNP C 24 ACOX1 SNP 17 C G 71457037 71457037 Baylor AGTR2 186 hgsc.bcm.edu GRCh37 X 115304185 115304185 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371906.4:c.652C>A p.Leu218Ile p.L218I ENST00000371906 NM_000686.4 218 Ctt/Att 0 Missense_Mutation C 24 AGTR2 SNP 23 C A 115218213 115218213 Baylor C2orf44 80304 hgsc.bcm.edu GRCh37 2 24261806 24261806 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295148.4:c.559G>A p.Ala187Thr p.A187T ENST00000295148 NM_025203.2 187 Gct/Act 0 Missense_Mutation C 27 C2orf44 SNP 2 C T 24115310 24115310 Baylor CNTF 1270 hgsc.bcm.edu GRCh37 11 58391865 58391865 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361987.4:c.473G>A p.Gly158Asp p.G158D ENST00000361987 NM_000614.3 158 gGc/gAc 0 Missense_Mutation G 42 ZFP91-CNTF SNP 11 G A 58148441 58148441 Baylor DSCAML1 57453 hgsc.bcm.edu GRCh37 11 117321270 117321270 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000321322.6:c.3883del p.Gln1295SerfsTer21 p.Q1295Sfs*21 ENST00000321322 NM_020693.2 1295 Cag/ag 0 Frame_Shift_Del G 47 DSCAML1 DEL 11 G - 116826480 116826480 Baylor ETV3L 440695 hgsc.bcm.edu GRCh37 1 157062896 157062896 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000454449.2:c.631T>C p.Cys211Arg p.C211R ENST00000454449 NM_001004341.2 211 Tgc/Cgc 0 Missense_Mutation A 7 ETV3L SNP 1 A G 155329520 155329520 Baylor NLRP4 147945 hgsc.bcm.edu GRCh37 19 56369444 56369444 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000301295.6:c.685G>A p.Val229Ile p.V229I ENST00000301295 NM_134444.4 229 Gtc/Atc 0 Missense_Mutation G 40 NLRP4 SNP 19 G A 61061256 61061256 Baylor PARD3 56288 hgsc.bcm.edu GRCh37 10 34666941 34666941 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000374789.3:c.1493C>G p.Ala498Gly p.A498G ENST00000374789 NM_019619.3 498 gCg/gGg 0 Missense_Mutation G 38 PARD3 SNP 10 G C 34706947 34706947 Baylor PGAP2 27315 hgsc.bcm.edu GRCh37 11 3846638 3846638 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000278243.4:c.898G>T p.Gly300Trp p.G300W ENST00000278243 NM_014489.3 300 Ggg/Tgg 0 Missense_Mutation G 39 PGAP2 SNP 11 G T 3803214 3803214 Baylor PIK3C2B 5287 hgsc.bcm.edu GRCh37 1 204402493 204402493 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367187.3:c.3904G>A p.Ala1302Thr p.A1302T ENST00000367187 NM_002646.3 1302 Gcc/Acc 0 Missense_Mutation C 25 PIK3C2B SNP 1 C T 202669116 202669116 Baylor PROKR2 128674 hgsc.bcm.edu GRCh37 20 5294732 5294732 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000546004.1:c.284T>C p.Leu95Pro p.L95P ENST00000546004 95 cTg/cCg 0 Missense_Mutation A 7 PROKR2 SNP 20 A G 5242732 5242732 Baylor TBX5 6910 hgsc.bcm.edu GRCh37 12 114839706 114839706 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000310346.4:c.167T>C p.Val56Ala p.V56A ENST00000310346 NM_000192.3 56 gTg/gCg 0 Missense_Mutation A 6 TBX5 SNP 12 A G 113324089 113324089 Baylor TEP1 7011 hgsc.bcm.edu GRCh37 14 20864888 20864888 + missense_variant,splice_region_variant Missense_Mutation SNP T T G novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262715.5:c.1551A>C p.Glu517Asp p.E517D ENST00000262715 NM_007110.4 517 gaA/gaC 0 Missense_Mutation T 64 TEP1 SNP 14 T G 19934728 19934728 Baylor TMEM130 222865 hgsc.bcm.edu GRCh37 7 98446205 98446205 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000416379.2:c.1119+1G>T p.X373_splice ENST00000416379 0 Splice_Site_SNP C 18 TMEM130 SNP 7 C A 98284141 98284141 Baylor TMPRSS3 64699 hgsc.bcm.edu GRCh37 21 43803308 43803308 + splice_acceptor_variant Splice_Site SNP C C A novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000291532.3:c.617-1G>T p.X206_splice ENST00000291532 NM_032404.2 0 Splice_Site_SNP C 28 TMPRSS3 SNP 21 C A 42676377 42676377 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 Missense_Mutation G 38 TP53 SNP 17 G A 7517846 7517846 Baylor TTC3 7267 hgsc.bcm.edu GRCh37 21 38524243 38524243 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000399017.2:c.2334delA p.Glu779LysfsTer5 p.E779Kfs*5 ENST00000399017 NM_003316.3 776 cAa/ca 0 Frame_Shift_Del A 5 TTC3 DEL 21 A - 37446113 37446113 Baylor UGT3A2 167127 hgsc.bcm.edu GRCh37 5 36035828 36035828 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000282507.3:c.1544G>A p.Arg515His p.R515H ENST00000282507 NM_174914.3 515 cGt/cAt 0 Missense_Mutation C 19 UGT3A2 SNP 5 C T 36071585 36071585 Baylor WDR53 348793 hgsc.bcm.edu GRCh37 3 196281623 196281623 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-36-1580-01 TCGA-36-1580-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000332629.5:c.536A>G p.Glu179Gly p.E179G ENST00000332629 NM_182627.1 179 gAg/gGg 0 Missense_Mutation T 54 WDR53 SNP 3 T C 197766020 197766020 Baylor DOCK8 81704 genome.wustl.edu GRCh37 9 418118 418118 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000453981.1:c.3751G>C p.Gly1251Arg p.G1251R ENST00000453981 1251 Gga/Cga 0 Missense_Mutation G 35 DOCK8 SNP 9 G C 408118 408118 WashU KCNQ1 3784 genome.wustl.edu GRCh37 11 2604687 2604687 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000155840.5:c.944A>T p.Tyr315Phe p.Y315F ENST00000155840 NM_000218.2 315 tAt/tTt 0 Missense_Mutation A 16 KCNQ1 SNP 11 A T 2561263 2561263 WashU PFKFB3 5209 genome.wustl.edu GRCh37 10 6261624 6261624 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379775.4:c.591C>G p.Ser197Arg p.S197R ENST00000379775 NM_004566.3 197 agC/agG 0 Missense_Mutation C 28 PFKFB3 SNP 10 C G 6301630 6301630 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577094 7577094 + missense_variant Missense_Mutation SNP G G A rs28934574 Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.844C>T p.Arg282Trp p.R282W ENST00000269305 NM_001126112.2 282 Cgg/Tgg 0 Missense_Mutation G 39 TP53 SNP 17 G A 7517819 7517819 WashU MUC16 94025 genome.wustl.edu GRCh37 19 8998702 8998702 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397910.4:c.40881C>T p.Pro13627= p.P13627= ENST00000397910 NM_024690.2 13627 ccC/ccT 0 Silent G 35 MUC16 SNP 19 G A 8859702 8859702 WashU BRPF1 7862 genome.wustl.edu GRCh37 3 9783744 9783744 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000383829.2:c.1890G>T p.Leu630= p.L630= ENST00000383829 NM_001003694.1 630 ctG/ctT 0 Silent G 45 BRPF1 SNP 3 G T 9758744 9758744 WashU LPHN1 22859 genome.wustl.edu GRCh37 19 14263354 14263354 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340736.6:c.3510C>G p.Ile1170Met p.I1170M ENST00000340736 NM_001008701.2 1170 atC/atG 0 Missense_Mutation G 45 LPHN1 SNP 19 G C 14124354 14124354 WashU TTC39B 158219 genome.wustl.edu GRCh37 9 15214172 15214172 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000512701.2:c.447C>A p.Asn149Lys p.N149K ENST00000512701 149 aaC/aaA 0 Missense_Mutation G 48 TTC39B SNP 9 G T 15204172 15204172 WashU KCNN1 3780 genome.wustl.edu GRCh37 19 18100588 18100588 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000222249.9:c.1234G>C p.Val412Leu p.V412L ENST00000222249 NM_002248.4 412 Gtg/Ctg 0 Missense_Mutation G 44 KCNN1 SNP 19 G C 17961588 17961588 WashU ZNF725P genome.wustl.edu GRCh37 19 23676019 23676019 + non_coding_transcript_exon_variant RNA SNP T T A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000596753.1:n.843A>T *281* ENST00000596753 0 Missense_Mutation T 56 LOC100128853 SNP 19 T A 23467859 23467859 WashU OPRD1 4985 genome.wustl.edu GRCh37 1 29185806 29185806 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000234961.2:c.568C>A p.Arg190Ser p.R190S ENST00000234961 NM_000911.3 190 Cgt/Agt 0 Missense_Mutation C 23 OPRD1 SNP 1 C A 29058393 29058393 WashU GABBR1 2550 genome.wustl.edu GRCh37 6 29577125 29577125 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377034.4:c.1740C>G p.Val580= p.V580= ENST00000377034 NM_001470.2 580 gtC/gtG 0 Silent G 45 GABBR1 SNP 6 G C 29685104 29685104 WashU DDR1 780 genome.wustl.edu GRCh37 6 30863207 30863207 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376575.3:c.1540C>T p.Arg514Cys p.R514C ENST00000376575 514 Cgc/Tgc 0 Missense_Mutation C 23 DDR1 SNP 6 C T 30971186 30971186 WashU EPC1 80314 genome.wustl.edu GRCh37 10 32581524 32581524 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263062.8:c.715C>A p.Arg239= p.R239= ENST00000263062 NM_025209.3 239 Cga/Aga 0 Silent G 40 EPC1 SNP 10 G T 32621530 32621530 WashU AGXT2 64902 genome.wustl.edu GRCh37 5 35003915 35003915 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000231420.6:c.1390T>C p.Cys464Arg p.C464R ENST00000231420 NM_031900.3 464 Tgc/Cgc 0 Missense_Mutation A 7 AGXT2 SNP 5 A G 35039672 35039672 WashU URI1 8725 genome.wustl.edu GRCh37 19 30502055 30502055 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000542441.2:c.1090G>A p.Glu364Lys p.E364K ENST00000542441 364 Gaa/Aaa 0 Missense_Mutation G 33 C19orf2 SNP 19 G A 35193895 35193895 WashU TRPC4 7223 genome.wustl.edu GRCh37 13 38225424 38225424 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379681.3:c.2057C>A p.Pro686Gln p.P686Q ENST00000379681 NM_001135955.1 686 cCa/cAa 0 Missense_Mutation G 47 TRPC4 SNP 13 G T 37123424 37123424 WashU TMEM87A 25963 genome.wustl.edu GRCh37 15 42529628 42529628 + splice_donor_variant Splice_Site SNP A A T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389834.4:c.868+2T>A p.X290_splice ENST00000389834 NM_015497.3 0 Splice_Site_SNP A 14 TMEM87A SNP 15 A T 40316920 40316920 WashU ZNF658 26149 genome.wustl.edu GRCh37 9 40773337 40773337 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000602553.1:c.1938G>A p.Lys646= p.K646= ENST00000602553 646 aaG/aaA 0 Silent C 24 ZNF658 SNP 9 C T 40763337 40763337 WashU TUBGCP4 27229 genome.wustl.edu GRCh37 15 43672342 43672342 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000564079.1:c.502G>A p.Val168Ile p.V168I ENST00000564079 NM_014444.2 168 Gtt/Att 0 Missense_Mutation G 48 TUBGCP4 SNP 15 G A 41459634 41459634 WashU CDC27 996 genome.wustl.edu GRCh37 17 45221247 45221247 + splice_donor_variant Splice_Site SNP A A G novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000531206.1:c.1188+2T>C p.X396_splice ENST00000531206 0 Splice_Site_SNP A 14 CDC27 SNP 17 A G 42576246 42576246 WashU LEPRE1 64175 genome.wustl.edu GRCh37 1 43223532 43223532 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000236040.4:c.1002C>T p.Asp334= p.D334= ENST00000236040 NM_001243246.1 334 gaC/gaT 0 Silent G 40 LEPRE1 SNP 1 G A 42996119 42996119 WashU KRTAP10-11 386678 genome.wustl.edu GRCh37 21 46066408 46066408 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000334670.8:c.33C>T p.Ser11= p.S11= ENST00000334670 NM_198692.2 11 agC/agT 0 Silent C 27 KRTAP10-11 SNP 21 C T 44890836 44890836 WashU KAT7 11143 genome.wustl.edu GRCh37 17 47893247 47893247 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000259021.4:c.935G>C p.Arg312Thr p.R312T ENST00000259021 NM_007067.4 312 aGa/aCa 0 Missense_Mutation G 33 MYST2 SNP 17 G C 45248246 45248246 WashU ABCA13 154664 genome.wustl.edu GRCh37 7 48285544 48285544 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000435803.1:c.1576G>T p.Gly526Cys p.G526C ENST00000435803 NM_152701.3 526 Ggt/Tgt 0 Missense_Mutation G 43 ABCA13 SNP 7 G T 48256090 48256090 WashU OR4S1 256148 genome.wustl.edu GRCh37 11 48328640 48328640 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319988.1:c.866A>T p.Asn289Ile p.N289I ENST00000319988 NM_001004725.1 289 aAc/aTc 0 Missense_Mutation A 2 OR4S1 SNP 11 A T 48285216 48285216 WashU HLF 3131 genome.wustl.edu GRCh37 17 53392722 53392722 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000226067.5:c.586C>G p.Arg196Gly p.R196G ENST00000226067 NM_002126.4 196 Cgc/Ggc 0 Missense_Mutation C 31 HLF SNP 17 C G 50747721 50747721 WashU TCF12 6938 genome.wustl.edu GRCh37 15 57356019 57356019 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000438423.2:c.220A>G p.Arg74Gly p.R74G ENST00000438423 NM_207037.1 74 Aga/Gga 0 Missense_Mutation A 15 TCF12 SNP 15 A G 55143311 55143311 WashU PCDH15 65217 genome.wustl.edu GRCh37 10 55568558 55568558 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395440.1:c.2054C>T p.Ser685Phe p.S685F ENST00000395440 685 tCt/tTt 0 Missense_Mutation G 33 PCDH15 SNP 10 G A 55238564 55238564 WashU NLRC5 84166 genome.wustl.edu GRCh37 16 57070034 57070034 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262510.6:c.2650G>A p.Asp884Asn p.D884N ENST00000262510 NM_032206.4 884 Gat/Aat 0 Missense_Mutation G 33 NLRC5 SNP 16 G A 55627535 55627535 WashU MS4A1 931 genome.wustl.edu GRCh37 11 60229852 60229852 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000534668.1:c.5C>A p.Thr2Lys p.T2K ENST00000534668 NM_152866.2 2 aCa/aAa 0 Missense_Mutation C 17 MS4A1 SNP 11 C A 59986428 59986428 WashU RTN3 10313 genome.wustl.edu GRCh37 11 63523611 63523611 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377819.5:c.3022G>A p.Ala1008Thr p.A1008T ENST00000377819 NM_001265589.1 1008 Gcc/Acc 0 Missense_Mutation G 38 RTN3 SNP 11 G A 63280187 63280187 WashU RPS6KA4 8986 genome.wustl.edu GRCh37 11 64129370 64129370 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334205.4:c.802G>A p.Val268Met p.V268M ENST00000334205 NM_003942.2 268 Gtg/Atg 0 Missense_Mutation G 40 RPS6KA4 SNP 11 G A 63885946 63885946 WashU HEPH 9843 genome.wustl.edu GRCh37 X 65417690 65417690 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000519389.1:c.1829C>T p.Pro610Leu p.P610L ENST00000519389 610 cCg/cTg 0 Missense_Mutation C 23 HEPH SNP 23 C T 65334415 65334415 WashU DYRK2 8445 genome.wustl.edu GRCh37 12 68051876 68051876 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344096.3:c.1189G>T p.Ala397Ser p.A397S ENST00000344096 NM_006482.2 397 Gcc/Tcc 0 Missense_Mutation G 42 DYRK2 SNP 12 G T 66338143 66338143 WashU LRRTM3 347731 genome.wustl.edu GRCh37 10 68857503 68857503 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361320.4:c.1695C>A p.Ser565Arg p.S565R ENST00000361320 NM_178011.3 565 agC/agA 0 Missense_Mutation C 25 LRRTM3 SNP 10 C A 68527509 68527509 WashU FAM155B 27112 genome.wustl.edu GRCh37 X 68749521 68749521 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000252338.4:c.1141A>G p.Thr381Ala p.T381A ENST00000252338 NM_015686.2 381 Acc/Gcc 0 Missense_Mutation A 2 FAM155B SNP 23 A G 68666246 68666246 WashU MCEE 84693 genome.wustl.edu GRCh37 2 71351486 71351486 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244217.5:c.228G>A p.Ala76= p.A76= ENST00000244217 NM_032601.3 76 gcG/gcA 0 Silent C 23 MCEE SNP 2 C T 71204994 71204994 WashU UNK 85451 genome.wustl.edu GRCh37 17 73816190 73816190 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589666.1:c.1837+1G>C p.X613_splice ENST00000589666 NM_001080419.2 0 Splice_Site_SNP G 44 UNK SNP 17 G C 71327785 71327785 WashU RNF157 114804 genome.wustl.edu GRCh37 17 74160863 74160863 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269391.6:c.686C>A p.Thr229Asn p.T229N ENST00000269391 NM_052916.2 229 aCt/aAt 0 Missense_Mutation G 36 RNF157 SNP 17 G T 71672458 71672458 WashU TERF1 7013 genome.wustl.edu GRCh37 8 73937056 73937056 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276603.5:c.625-1G>A p.X209_splice ENST00000276603 NM_017489.2 0 Splice_Site_SNP G 34 TERF1 SNP 8 G A 74099610 74099610 WashU USP35 57558 genome.wustl.edu GRCh37 11 77917031 77917031 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000529308.1:c.1341C>G p.Gly447= p.G447= ENST00000529308 NM_020798.2 447 ggC/ggG 0 Silent C 25 USP35 SNP 11 C G 77594679 77594679 WashU MDN1 23195 genome.wustl.edu GRCh37 6 90409321 90409321 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369393.3:c.8996A>T p.Lys2999Met p.K2999M ENST00000369393 2999 aAg/aTg 0 Missense_Mutation T 56 MDN1 SNP 6 T A 90466042 90466042 WashU SORBS1 10580 genome.wustl.edu GRCh37 10 97096492 97096492 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371247.2:c.3425G>C p.Gly1142Ala p.G1142A ENST00000371247 1142 gGa/gCa 0 Missense_Mutation C 30 SORBS1 SNP 10 C G 97086482 97086482 WashU OR4F6 390648 genome.wustl.edu GRCh37 15 102346250 102346250 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328882.4:c.328A>T p.Thr110Ser p.T110S ENST00000328882 NM_001005326.1 110 Act/Tct 0 Missense_Mutation A 2 OR4F6 SNP 15 A T 100163773 100163773 WashU RRM2B 50484 genome.wustl.edu GRCh37 8 103236326 103236326 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000251810.3:c.498G>C p.Lys166Asn p.K166N ENST00000251810 NM_001172478.1 166 aaG/aaC 0 Missense_Mutation C 32 RRM2B SNP 8 C G 103305502 103305502 WashU GPR132 29933 genome.wustl.edu GRCh37 14 105518008 105518008 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329797.3:c.466C>T p.Arg156Trp p.R156W ENST00000329797 NM_013345.3 156 Cgg/Tgg 0 Missense_Mutation G 39 GPR132 SNP 14 G A 104589053 104589053 WashU SORCS3 22986 genome.wustl.edu GRCh37 10 107022239 107022239 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369701.3:c.3594G>A p.Thr1198= p.T1198= ENST00000369701 NM_014978.1 1198 acG/acA 0 Silent G 38 SORCS3 SNP 10 G A 107012229 107012229 WashU ATM 472 genome.wustl.edu GRCh37 11 108153482 108153482 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000278616.4:c.3622G>C p.Asp1208His p.D1208H ENST00000278616 NM_000051.3 1208 Gac/Cac 0 Missense_Mutation G 33 ATM SNP 11 G C 107658692 107658692 WashU ATXN7L2 127002 genome.wustl.edu GRCh37 1 110033681 110033681 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369870.3:c.1496C>T p.Pro499Leu p.P499L ENST00000369870 NM_153340.4 499 cCc/cTc 0 Missense_Mutation C 22 ATXN7L2 SNP 1 C T 109835204 109835204 WashU SLC20A1 6574 genome.wustl.edu GRCh37 2 113416546 113416546 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272542.3:c.923T>A p.Leu308His p.L308H ENST00000272542 NM_005415.4 308 cTc/cAc 0 Missense_Mutation T 54 SLC20A1 SNP 2 T A 113133017 113133017 WashU ZDHHC23 254887 genome.wustl.edu GRCh37 3 113675209 113675209 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330212.3:c.896C>G p.Ser299Ter p.S299* ENST00000330212 NM_173570.3 299 tCa/tGa 0 Nonsense_Mutation C 29 ZDHHC23 SNP 3 C G 115157899 115157899 WashU HABP2 3026 genome.wustl.edu GRCh37 10 115338451 115338451 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000351270.3:c.634C>T p.Gln212Ter p.Q212* ENST00000351270 NM_004132.3 212 Cag/Tag 0 Nonsense_Mutation C 21 HABP2 SNP 10 C T 115328441 115328441 WashU GLI2 2736 genome.wustl.edu GRCh37 2 121742290 121742290 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000452319.1:c.1927G>A p.Val643Ile p.V643I ENST00000452319 643 Gtc/Atc 0 Missense_Mutation G 40 GLI2 SNP 2 G A 121458760 121458760 WashU SEC23IP 11196 genome.wustl.edu GRCh37 10 121677961 121677961 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369075.3:c.1810T>G p.Cys604Gly p.C604G ENST00000369075 NM_007190.3 604 Tgc/Ggc 0 Missense_Mutation T 59 SEC23IP SNP 10 T G 121667951 121667951 WashU CNTNAP5 129684 genome.wustl.edu GRCh37 2 125232356 125232356 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000431078.1:c.959C>T p.Thr320Ile p.T320I ENST00000431078 NM_130773.3 320 aCc/aTc 0 Missense_Mutation C 18 CNTNAP5 SNP 2 C T 124948826 124948826 WashU RAP2C 57826 genome.wustl.edu GRCh37 X 131348288 131348288 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342983.2:c.460G>C p.Asp154His p.D154H ENST00000342983 NM_021183.4 154 Gat/Cat 0 Missense_Mutation C 30 RAP2C SNP 23 C G 131175969 131175969 WashU POTEE 445582 genome.wustl.edu GRCh37 2 132021439 132021439 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000356920.5:c.2411T>C p.Leu804Pro p.L804P ENST00000356920 NM_001083538.1 804 cTg/cCg 0 Missense_Mutation T 55 POTEE SNP 2 T C 131737909 131737909 WashU TOPBP1 11073 genome.wustl.edu GRCh37 3 133362902 133362902 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260810.5:c.1810G>A p.Glu604Lys p.E604K ENST00000260810 NM_007027.3 604 Gaa/Aaa 0 Missense_Mutation C 30 TOPBP1 SNP 3 C T 134845592 134845592 WashU CTNNA1 1495 genome.wustl.edu GRCh37 5 138118935 138118935 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302763.7:c.175C>T p.His59Tyr p.H59Y ENST00000302763 NM_001903.2 59 Cat/Tat 0 Missense_Mutation C 21 CTNNA1 SNP 5 C T 138146834 138146834 WashU ZNF7 7553 genome.wustl.edu GRCh37 8 146068280 146068280 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000528372.1:c.1788T>C p.Leu596= p.L596= ENST00000528372 596 ctT/ctC 0 Silent T 61 ZNF7 SNP 8 T C 146039084 146039084 WashU LCE1A 353131 genome.wustl.edu GRCh37 1 152799996 152799996 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335123.2:c.48C>T p.Cys16= p.C16= ENST00000335123 NM_178348.2 16 tgC/tgT 0 Silent C 25 LCE1A SNP 1 C T 151066620 151066620 WashU ATF6 22926 genome.wustl.edu GRCh37 1 161736166 161736166 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367942.3:c.16G>A p.Gly6Arg p.G6R ENST00000367942 NM_007348.3 6 Ggg/Agg 0 Missense_Mutation G 47 ATF6 SNP 1 G A 160002790 160002790 WashU LRP2 4036 genome.wustl.edu GRCh37 2 170022518 170022518 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263816.3:c.11682T>G p.Asn3894Lys p.N3894K ENST00000263816 NM_004525.2 3894 aaT/aaG 0 Missense_Mutation A 12 LRP2 SNP 2 A C 169730764 169730764 WashU PRRC2C 23215 genome.wustl.edu GRCh37 1 171535524 171535524 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338920.4:c.6264G>C p.Gln2088His p.Q2088H ENST00000338920 NM_015172.3 2088 caG/caC 0 Missense_Mutation G 33 BAT2L2 SNP 1 G C 169802148 169802148 WashU CCDC108 255101 genome.wustl.edu GRCh37 2 219900221 219900221 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341552.5:c.523C>T p.Leu175Phe p.L175F ENST00000341552 NM_194302.3 175 Ctc/Ttc 0 Missense_Mutation G 36 CCDC108 SNP 2 G A 219608465 219608465 WashU TRIM17 51127 genome.wustl.edu GRCh37 1 228595964 228595964 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366697.2:c.1372C>A p.Leu458Met p.L458M ENST00000366697 458 Ctg/Atg 0 Missense_Mutation G 35 TRIM17 SNP 1 G T 226662587 226662587 WashU OR2T35 403244 genome.wustl.edu GRCh37 1 248801897 248801897 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000317450.3:c.663C>T p.Ile221= p.I221= ENST00000317450 NM_001001827.1 221 atC/atT 0 Silent G 41 OR2T35 SNP 1 G A 246868520 246868520 WashU PTPRK 5796 genome.wustl.edu GRCh37 6 128505586 128505586 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 T T A T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000368213.5:c.1153A>T p.Lys385Ter p.K385* ENST00000368213 NM_001135648.1 385 Aaa/Taa 0 Nonsense_Mutation T 64 PTPRK SNP 6 A T 128547279 128547279 WashU BRCA2 675 genome.wustl.edu GRCh37 13 32929170 32929170 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 A T A T A T Unknown Valid Germline Phase_III Capture 454_PCR_WGA;Sanger_PCR_WGA dbGAP Illumina GAIIx ENST00000380152.3:c.7180A>T p.Arg2394Ter p.R2394* ENST00000380152 2394 Aga/Tga 0 Nonsense_Mutation A 11 BRCA2 SNP 13 A T 31827170 31827170 WashU SLC38A6 145389 genome.wustl.edu GRCh37 14 61545645 61545645 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000354886.2:c.1408G>C p.Gly470Arg p.G470R ENST00000354886 NM_001172702.1 470 Gga/Cga 0 Missense_Mutation G 35 SLC38A6 SNP 14 G C 60615398 60615398 WashU SLC45A3 85414 genome.wustl.edu GRCh37 1 205632105 205632105 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01 TCGA-13-0726-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367145.3:c.814C>G p.Arg272Gly p.R272G ENST00000367145 NM_033102.2 272 Cgc/Ggc 0 Missense_Mutation G 38 SLC45A3 SNP 1 G C 203898728 203898728 WashU CCDC136 64753 genome.wustl.edu GRCh37 7 128450381 128450388 + frameshift_variant Frame_Shift_Del DEL TTCCAAAT TTCCAAAT - Unknown TCGA-13-0726-01 TCGA-13-0726-10 TTCCAAAT TTCCAAAT TTCCAAAT - TTCCAAAT TTCCAAAT Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000297788.4:c.1990_1997del p.Ser664GlyfsTer2 p.S664Gfs*2 ENST00000297788 NM_022742.4 663 gaTTCCAAATtg/gatg 0 Frame_Shift_Del TTCCAAAT 52 CCDC136 DEL 7 TTCCAAAT - 128237624 128237617 WashU CCDC136 64753 genome.wustl.edu GRCh37 7 128450396 128450399 + frameshift_variant Frame_Shift_Del DEL GTCC GTCC - Unknown TCGA-13-0726-01 TCGA-13-0726-10 GTCC GTCC GTCC - GTCC GTCC Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000297788.4:c.2004_2007del p.Lys668AsnfsTer22 p.K668Nfs*22 ENST00000297788 NM_022742.4 668 aaGTCC/aa 0 Frame_Shift_Del GTCC 36 CCDC136 DEL 7 GTCC - 128237635 128237632 WashU ABCA5 23461 hgsc.bcm.edu GRCh37 17 67255915 67255915 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000392676.3:c.3663G>T p.Trp1221Cys p.W1221C ENST00000392676 1221 tgG/tgT 0 Missense_Mutation C 30 ABCA5 SNP 17 C A 64767510 64767510 Baylor ADAMTS2 9509 hgsc.bcm.edu GRCh37 5 178541232 178541232 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000251582.7:c.3272A>G p.Lys1091Arg p.K1091R ENST00000251582 NM_014244.4 1091 aAg/aGg 0 Missense_Mutation T 56 ADAMTS2 SNP 5 T C 178473838 178473838 Baylor APOBEC3H 164668 hgsc.bcm.edu GRCh37 22 39497388 39497388 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000401756.1:c.297C>T p.His99= p.H99= ENST00000401756 NM_001166003.1 99 caC/caT 0 Silent C 19 APOBEC3H SNP 22 C T 37827334 37827334 Baylor BAI3 577 hgsc.bcm.edu GRCh37 6 69703742 69703742 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000370598.1:c.1817C>A p.Thr606Asn p.T606N ENST00000370598 NM_001704.2 606 aCt/aAt 0 Missense_Mutation C 20 BAI3 SNP 6 C A 69760463 69760463 Baylor BOC 91653 hgsc.bcm.edu GRCh37 3 113002346 113002346 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000495514.1:c.2520G>A p.Pro840= p.P840= ENST00000495514 840 ccG/ccA 0 Silent G 39 BOC SNP 3 G A 114485036 114485036 Baylor C10orf118 55088 hgsc.bcm.edu GRCh37 10 115894803 115894803 + synonymous_variant Silent SNP T T G novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000369287.3:c.1524A>C p.Leu508= p.L508= ENST00000369287 NM_018017.2 508 ctA/ctC 0 Silent T 53 C10orf118 SNP 10 T G 115884793 115884793 Baylor C9orf72 203228 hgsc.bcm.edu GRCh37 9 27558578 27558578 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000380003.3:c.766A>G p.Thr256Ala p.T256A ENST00000380003 NM_001256054.1 256 Act/Gct 0 Missense_Mutation T 58 C9orf72 SNP 9 T C 27548578 27548578 Baylor CDC42BPB 9578 hgsc.bcm.edu GRCh37 14 103430940 103430940 + synonymous_variant Silent SNP C C T rs45512495 Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361246.2:c.2625G>A p.Ala875= p.A875= ENST00000361246 NM_006035.3 875 gcG/gcA 0 Silent C 27 CDC42BPB SNP 14 C T 102500693 102500693 Baylor CDH22 64405 hgsc.bcm.edu GRCh37 20 44869781 44869781 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000372262.3:c.371G>A p.Arg124His p.R124H ENST00000372262 124 cGc/cAc 0 Missense_Mutation C 27 CDH22 SNP 20 C T 44303188 44303188 Baylor CHRNA1 1134 hgsc.bcm.edu GRCh37 2 175618346 175618346 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261007.5:c.738C>T p.Ile246= p.I246= ENST00000261007 NM_001039523.2 246 atC/atT 0 Silent G 45 CHRNA1 SNP 2 G A 175326592 175326592 Baylor CRTC3 64784 hgsc.bcm.edu GRCh37 15 91147677 91147677 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000268184.6:c.474C>G p.Asn158Lys p.N158K ENST00000268184 158 aaC/aaG 0 Missense_Mutation C 17 CRTC3 SNP 15 C G 88948681 88948681 Baylor DLC1 10395 hgsc.bcm.edu GRCh37 8 12947955 12947955 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000276297.4:c.3880C>T p.Arg1294Cys p.R1294C ENST00000276297 NM_182643.2 1294 Cgt/Tgt 0 Missense_Mutation G 37 DLC1 SNP 8 G A 12992326 12992326 Baylor DNAH5 1767 hgsc.bcm.edu GRCh37 5 13754367 13754367 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000265104.4:c.10500A>G p.Lys3500= p.K3500= ENST00000265104 NM_001369.2 3500 aaA/aaG 0 Silent T 56 DNAH5 SNP 5 T C 13807367 13807367 Baylor EFEMP1 2202 hgsc.bcm.edu GRCh37 2 56104917 56104917 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000394555.2:c.724G>C p.Gly242Arg p.G242R ENST00000394555 NM_001039348.2 242 Ggg/Cgg 0 Missense_Mutation C 21 EFEMP1 SNP 2 C G 55958421 55958421 Baylor ELAVL3 1995 hgsc.bcm.edu GRCh37 19 11569363 11569363 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000359227.3:c.397C>T p.Pro133Ser p.P133S ENST00000359227 NM_001420.3 133 Ccc/Tcc 0 Missense_Mutation G 43 ELAVL3 SNP 19 G A 11430363 11430363 Baylor ENPP3 5169 hgsc.bcm.edu GRCh37 6 132047342 132047342 + splice_donor_variant Splice_Site SNP T T C novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000414305.1:c.1953+2T>C p.X651_splice ENST00000414305 0 Splice_Site_SNP T 57 ENPP3 SNP 6 T C 132089035 132089035 Baylor FAM163A 148753 hgsc.bcm.edu GRCh37 1 179783001 179783001 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000341785.4:c.181A>T p.Thr61Ser p.T61S ENST00000341785 NM_173509.2 61 Acc/Tcc 0 Missense_Mutation A 6 FAM163A SNP 1 A T 178049624 178049624 Baylor FAM186B 84070 hgsc.bcm.edu GRCh37 12 49997067 49997067 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000257894.2:c.406A>G p.Lys136Glu p.K136E ENST00000257894 NM_032130.2 136 Aaa/Gaa 0 Missense_Mutation T 62 FAM186B SNP 12 T C 48283334 48283334 Baylor COLGALT2 23127 hgsc.bcm.edu GRCh37 1 183944320 183944320 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361927.4:c.403C>A p.His135Asn p.H135N ENST00000361927 NM_015101.2 135 Cac/Aac 0 Missense_Mutation G 46 GLT25D2 SNP 1 G T 182210943 182210943 Baylor ERVFRD-1 405754 hgsc.bcm.edu GRCh37 6 11105009 11105009 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000472091.1:c.535A>C p.Thr179Pro p.T179P ENST00000472091 NM_207582.2 179 Act/Cct 0 Missense_Mutation T 57 HERV-FRD SNP 6 T G 11212995 11212995 Baylor HIRA 7290 hgsc.bcm.edu GRCh37 22 19373104 19373104 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000263208.5:c.1269G>C p.Met423Ile p.M423I ENST00000263208 NM_003325.3 423 atG/atC 0 Missense_Mutation C 21 HIRA SNP 22 C G 17753104 17753104 Baylor HMCN1 83872 hgsc.bcm.edu GRCh37 1 186039781 186039781 + synonymous_variant Silent SNP A A G novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000271588.4:c.8031A>G p.Pro2677= p.P2677= ENST00000271588 NM_031935.2 2677 ccA/ccG 0 Silent A 7 HMCN1 SNP 1 A G 184306404 184306404 Baylor HSP90B1 7184 hgsc.bcm.edu GRCh37 12 104324315 104324315 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000299767.5:c.22G>C p.Gly8Arg p.G8R ENST00000299767 NM_003299.2 8 Ggc/Cgc 0 Missense_Mutation G 43 HSP90B1 SNP 12 G C 102848445 102848445 Baylor IGSF10 285313 hgsc.bcm.edu GRCh37 3 151163375 151163375 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000282466.3:c.4394T>A p.Phe1465Tyr p.F1465Y ENST00000282466 NM_178822.4 1465 tTc/tAc 0 Missense_Mutation A 9 IGSF10 SNP 3 A T 152646065 152646065 Baylor KCTD1 284252 hgsc.bcm.edu GRCh37 18 24039732 24039732 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000408011.3:c.467C>T p.Thr156Met p.T156M ENST00000408011 NM_001136205.2 156 aCg/aTg 0 Missense_Mutation G 40 KCTD1 SNP 18 G A 22293730 22293730 Baylor KIF2B 84643 hgsc.bcm.edu GRCh37 17 51902168 51902168 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000268919.4:c.1774C>T p.Gln592Ter p.Q592* ENST00000268919 NM_032559.4 592 Cag/Tag 0 Nonsense_Mutation C 25 KIF2B SNP 17 C T 49257167 49257167 Baylor KTN1 3895 hgsc.bcm.edu GRCh37 14 56119763 56119763 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000395314.3:c.2723A>G p.Lys908Arg p.K908R ENST00000395314 NM_001079521.1 908 aAa/aGa 0 Missense_Mutation A 1 KTN1 SNP 14 A G 55189516 55189516 Baylor MCHR2 84539 hgsc.bcm.edu GRCh37 6 100390994 100390994 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000281806.2:c.418C>T p.Arg140Ter p.R140* ENST00000281806 NM_001040179.1 140 Cga/Tga 0 Nonsense_Mutation G 37 MCHR2 SNP 6 G A 100497715 100497715 Baylor MYH9 4627 hgsc.bcm.edu GRCh37 22 36712628 36712628 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000216181.5:c.1314C>A p.Asp438Glu p.D438E ENST00000216181 NM_002473.4 438 gaC/gaA 0 Missense_Mutation G 48 MYH9 SNP 22 G T 35042574 35042574 Baylor NOX3 50508 hgsc.bcm.edu GRCh37 6 155761198 155761198 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000159060.2:c.560T>A p.Ile187Asn p.I187N ENST00000159060 NM_015718.2 187 aTc/aAc 0 Missense_Mutation A 12 NOX3 SNP 6 A T 155802890 155802890 Baylor NRG2 9542 hgsc.bcm.edu GRCh37 5 139245143 139245143 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361474.1:c.1180C>A p.Pro394Thr p.P394T ENST00000361474 NM_004883.2 394 Cct/Act 0 Missense_Mutation G 41 NRG2 SNP 5 G T 139225327 139225327 Baylor PARS2 25973 hgsc.bcm.edu GRCh37 1 55223917 55223917 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371279.3:c.918G>A p.Glu306= p.E306= ENST00000371279 NM_152268.3 306 gaG/gaA 0 Silent C 24 PARS2 SNP 1 C T 54996505 54996505 Baylor PRICKLE2 166336 hgsc.bcm.edu GRCh37 3 64084736 64084736 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295902.6:c.2526C>T p.Ile842= p.I842= ENST00000295902 NM_198859.3 842 atC/atT 0 Silent G 45 PRICKLE2 SNP 3 G A 64059776 64059776 Baylor RPTOR 57521 hgsc.bcm.edu GRCh37 17 78727815 78727816 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000306801.3:c.661dup p.Ala221GlyfsTer41 p.A221Gfs*41 ENST00000306801 NM_020761.2 220 -/G 0 Frame_Shift_Ins - 55 RPTOR INS 17 - G 76342411 76342410 Baylor SALL4 57167 hgsc.bcm.edu GRCh37 20 50406888 50406888 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000217086.4:c.2134C>T p.Leu712Phe p.L712F ENST00000217086 NM_020436.3 712 Ctt/Ttt 0 Missense_Mutation G 33 SALL4 SNP 20 G A 49840295 49840295 Baylor SART1 9092 hgsc.bcm.edu GRCh37 11 65745239 65745239 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000312397.5:c.2041A>G p.Ile681Val p.I681V ENST00000312397 NM_005146.4 681 Atc/Gtc 0 Missense_Mutation A 8 SART1 SNP 11 A G 65501815 65501815 Baylor SLC16A14 151473 hgsc.bcm.edu GRCh37 2 230911026 230911026 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295190.4:c.816G>A p.Gly272= p.G272= ENST00000295190 NM_152527.4 272 ggG/ggA 0 Silent C 26 SLC16A14 SNP 2 C T 230619270 230619270 Baylor SLC4A4 8671 hgsc.bcm.edu GRCh37 4 72420864 72420864 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000425175.1:c.2702C>A p.Pro901His p.P901H ENST00000425175 NM_001134742.1 901 cCc/cAc 0 Missense_Mutation C 22 SLC4A4 SNP 4 C A 72639728 72639728 Baylor SLC4A5 57835 hgsc.bcm.edu GRCh37 2 74458386 74458386 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000377634.4:c.2824G>C p.Val942Leu p.V942L ENST00000377634 942 Gtc/Ctc 0 Missense_Mutation C 17 SLC4A5 SNP 2 C G 74311894 74311894 Baylor SPTB 6710 hgsc.bcm.edu GRCh37 14 65262267 65262267 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000389722.3:c.1432G>C p.Val478Leu p.V478L ENST00000389722 NM_001024858.2 478 Gtg/Ctg 0 Missense_Mutation C 18 SPTB SNP 14 C G 64332020 64332020 Baylor TBC1D22A 25771 hgsc.bcm.edu GRCh37 22 47433033 47433033 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000337137.4:c.1268A>C p.Asn423Thr p.N423T ENST00000337137 NM_014346.2 423 aAc/aCc 0 Missense_Mutation A 2 TBC1D22A SNP 22 A C 45811697 45811697 Baylor TEK 7010 hgsc.bcm.edu GRCh37 9 27169607 27169607 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000380036.4:c.608T>A p.Phe203Tyr p.F203Y ENST00000380036 NM_000459.3 203 tTc/tAc 0 Missense_Mutation T 62 TEK SNP 9 T A 27159607 27159607 Baylor TEKT3 64518 hgsc.bcm.edu GRCh37 17 15234458 15234458 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000395930.1:c.445C>T p.Arg149Cys p.R149C ENST00000395930 NM_031898.2 149 Cgt/Tgt 0 Missense_Mutation G 40 TEKT3 SNP 17 G A 15175183 15175183 Baylor TMEM135 65084 hgsc.bcm.edu GRCh37 11 86778793 86778793 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000305494.5:c.199G>C p.Glu67Gln p.E67Q ENST00000305494 NM_022918.3 67 Gag/Cag 0 Missense_Mutation G 45 TMEM135 SNP 11 G C 86456441 86456441 Baylor TMEM8B 51754 hgsc.bcm.edu GRCh37 9 35842574 35842574 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000377988.2:c.139G>A p.Asp47Asn p.D47N ENST00000377988 NM_001042590.2 47 Gac/Aac 0 Missense_Mutation G 41 TMEM8B SNP 9 G A 35832574 35832574 Baylor TNFAIP3 7128 hgsc.bcm.edu GRCh37 6 138192422 138192422 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000237289.4:c.58A>C p.Lys20Gln p.K20Q ENST00000237289 NM_001270507.1 20 Aag/Cag 0 Missense_Mutation A 9 TNFAIP3 SNP 6 A C 138234115 138234115 Baylor TOMM40 10452 hgsc.bcm.edu GRCh37 19 45397256 45397256 + synonymous_variant Silent SNP G G C novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000426677.2:c.576G>C p.Gly192= p.G192= ENST00000426677 NM_001128917.1 192 ggG/ggC 0 Silent G 43 TOMM40 SNP 19 G C 50089096 50089096 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7576852 7576852 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.993+1G>A p.X331_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 18 TP53 SNP 17 C T 7517577 7517577 Baylor UBE4A 9354 hgsc.bcm.edu GRCh37 11 118260580 118260580 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000431736.2:c.2749C>A p.Gln917Lys p.Q917K ENST00000431736 917 Cag/Aag 0 Missense_Mutation C 25 UBE4A SNP 11 C A 117765790 117765790 Baylor ZNF555 148254 hgsc.bcm.edu GRCh37 19 2853696 2853696 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000334241.4:c.1633T>C p.Phe545Leu p.F545L ENST00000334241 NM_152791.4 545 Ttc/Ctc 0 Missense_Mutation T 56 ZNF555 SNP 19 T C 2804696 2804696 Baylor ZNF559 84527 hgsc.bcm.edu GRCh37 19 9452608 9452608 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1669-01 TCGA-09-1669-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393883.2:c.481C>A p.His161Asn p.H161N ENST00000393883 NM_001202412.1 161 Cat/Aat 0 Missense_Mutation C 17 ZNF559 SNP 19 C A 9313608 9313608 Baylor LRRC40 55631 broad.mit.edu GRCh37 1 70650576 70650576 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000370952.3:c.429C>G p.Leu143= p.L143= ENST00000370952 NM_017768.4 143 ctC/ctG 0 Silent G 41 LRRC40 SNP 1 G C 70423164 70423164 Broad KCND3 3752 broad.mit.edu GRCh37 1 112524271 112524271 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000315987.2:c.1078T>C p.Tyr360His p.Y360H ENST00000315987 NM_004980.4 360 Tac/Cac 0 Missense_Mutation A 14 KCND3 SNP 1 A G 112325794 112325794 Broad KCTD3 51133 broad.mit.edu GRCh37 1 215785206 215785206 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000259154.4:c.1505A>G p.Gln502Arg p.Q502R ENST00000259154 NM_016121.3 502 cAg/cGg 0 Missense_Mutation A 7 KCTD3 SNP 1 A G 213851829 213851829 Broad LYST 1130 broad.mit.edu GRCh37 1 235840882 235840882 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000389794.3:c.10838A>G p.Tyr3613Cys p.Y3613C ENST00000389794 3613 tAt/tGt 0 Missense_Mutation T 49 LYST SNP 1 T C 233907505 233907505 Broad LARP4B 23185 broad.mit.edu GRCh37 10 871158 871158 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000316157.3:c.1331G>A p.Arg444Gln p.R444Q ENST00000316157 NM_015155.2 444 cGa/cAa 0 Missense_Mutation C 31 LARP4B SNP 10 C T 861158 861158 Broad HELLS 3070 broad.mit.edu GRCh37 10 96341236 96341236 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000348459.5:c.1186T>C p.Leu396= p.L396= ENST00000348459 NM_018063.3 396 Ttg/Ctg 0 Silent T 52 HELLS SNP 10 T C 96331226 96331226 Broad PPFIBP2 8495 broad.mit.edu GRCh37 11 7670885 7670885 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000299492.4:c.2121G>C p.Glu707Asp p.E707D ENST00000299492 NM_003621.3 707 gaG/gaC 0 Missense_Mutation G 35 PPFIBP2 SNP 11 G C 7627461 7627461 Broad OR5F1 338674 broad.mit.edu GRCh37 11 55761891 55761891 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000278409.1:c.211G>C p.Val71Leu p.V71L ENST00000278409 NM_003697.1 71 Gtt/Ctt 0 Missense_Mutation C 19 OR5F1 SNP 11 C G 55518467 55518467 Broad ANO2 57101 broad.mit.edu GRCh37 12 5708776 5708776 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000327087.8:c.2107C>T p.Arg703Ter p.R703* ENST00000327087 NM_001278596.1 703 Cga/Tga 0 Nonsense_Mutation G 37 ANO2 SNP 12 G A 5579037 5579037 Broad ATF1 466 broad.mit.edu GRCh37 12 51213428 51213428 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000262053.3:c.682C>G p.Arg228Gly p.R228G ENST00000262053 NM_005171.4 228 Cga/Gga 0 Missense_Mutation C 31 ATF1 SNP 12 C G 49499695 49499695 Broad KRT78 196374 broad.mit.edu GRCh37 12 53242380 53242380 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000304620.4:c.335C>T p.Thr112Ile p.T112I ENST00000304620 NM_173352.2 112 aCc/aTc 0 Missense_Mutation G 44 KRT78 SNP 12 G A 51528647 51528647 Broad ALX1 8092 broad.mit.edu GRCh37 12 85680720 85680720 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000316824.3:c.621T>A p.Tyr207Ter p.Y207* ENST00000316824 NM_006982.2 207 taT/taA 0 Nonsense_Mutation T 51 ALX1 SNP 12 T A 84204851 84204851 Broad MYBPC1 4604 broad.mit.edu GRCh37 12 102043146 102043146 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000452455.2:c.1230T>C p.Ala410= p.A410= ENST00000452455 NM_001254718.1 410 gcT/gcC 0 Silent T 55 MYBPC1 SNP 12 T C 100567277 100567277 Broad CATSPERB 79820 broad.mit.edu GRCh37 14 92102892 92102892 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000256343.3:c.1619C>G p.Ala540Gly p.A540G ENST00000256343 NM_024764.2 540 gCc/gGc 0 Missense_Mutation G 42 CATSPERB SNP 14 G C 91172645 91172645 Broad SCAPER 49855 broad.mit.edu GRCh37 15 77096971 77096971 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000563290.1:c.397G>A p.Val133Met p.V133M ENST00000563290 133 Gtg/Atg 0 Missense_Mutation C 18 SCAPER SNP 15 C T 74884026 74884026 Broad FAM65A 79567 broad.mit.edu GRCh37 16 67575618 67575618 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000422602.2:c.1073C>G p.Thr358Ser p.T358S ENST00000422602 NM_001193523.1 358 aCc/aGc 0 Missense_Mutation C 18 FAM65A SNP 16 C G 66133119 66133119 Broad TP53 7157 broad.mit.edu GRCh37 17 7576852 7576852 + splice_donor_variant Splice_Site SNP C C T rs11575997 Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.993+1G>A p.X331_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 18 TP53 SNP 17 C T 7517577 7517577 Broad ENOSF1 55556 broad.mit.edu GRCh37 18 688606 688606 + splice_region_variant,synonymous_variant Splice_Region SNP G G C novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000340116.7:c.684C>G p.Leu228= p.L228= ENST00000340116 NM_202758.3 228 ctC/ctG 0 Silent G 33 ENOSF1 SNP 18 G C 678606 678606 Broad ZNF257 113835 broad.mit.edu GRCh37 19 22271223 22271223 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000594947.1:c.671C>T p.Thr224Ile p.T224I ENST00000594947 NM_033468.2 224 aCt/aTt 0 Missense_Mutation C 20 ZNF257 SNP 19 C T 22063063 22063063 Broad HKR1 284459 broad.mit.edu GRCh37 19 37835589 37835589 + start_lost Translation_Start_Site SNP G G T novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000324411.4:c.3G>T p.Met1? p.M1? ENST00000324411 NM_181786.2 1 atG/atT 0 Missense_Mutation G 45 HKR1 SNP 19 G T 42527429 42527429 Broad KCNK6 9424 broad.mit.edu GRCh37 19 38817898 38817898 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000263372.3:c.797C>T p.Thr266Met p.T266M ENST00000263372 NM_004823.1 266 aCg/aTg 0 Missense_Mutation C 19 KCNK6 SNP 19 C T 43509738 43509738 Broad KIR3DL2 3812 broad.mit.edu GRCh37 19 55377869 55377869 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000326321.3:c.1150A>G p.Asn384Asp p.N384D ENST00000326321 NM_006737.3 384 Aat/Gat 0 Missense_Mutation A 9 KIR3DL2 SNP 19 A G 60069681 60069681 Broad APOB 338 broad.mit.edu GRCh37 2 21235485 21235485 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000233242.1:c.4255A>G p.Thr1419Ala p.T1419A ENST00000233242 NM_000384.2 1419 Aca/Gca 0 Missense_Mutation T 59 APOB SNP 2 T C 21088990 21088990 Broad HADHA 3030 broad.mit.edu GRCh37 2 26424110 26424110 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000380649.3:c.1300G>C p.Asp434His p.D434H ENST00000380649 NM_000182.4 434 Gat/Cat 0 Missense_Mutation C 29 HADHA SNP 2 C G 26277614 26277614 Broad SLC5A6 8884 broad.mit.edu GRCh37 2 27423930 27423930 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000310574.3:c.1700C>T p.Pro567Leu p.P567L ENST00000310574 NM_021095.2 567 cCa/cTa 0 Missense_Mutation G 47 SLC5A6 SNP 2 G A 27277434 27277434 Broad MRPS9 64965 broad.mit.edu GRCh37 2 105654600 105654600 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000258455.3:c.50T>G p.Leu17Arg p.L17R ENST00000258455 NM_182640.2 17 cTt/cGt 0 Missense_Mutation T 56 MRPS9 SNP 2 T G 105021032 105021032 Broad LRP2 4036 broad.mit.edu GRCh37 2 170068633 170068633 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000263816.3:c.6125C>G p.Ser2042Cys p.S2042C ENST00000263816 NM_004525.2 2042 tCc/tGc 0 Missense_Mutation G 41 LRP2 SNP 2 G C 169776879 169776879 Broad FBLN2 2199 broad.mit.edu GRCh37 3 13613028 13613028 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000404922.3:c.1173A>G p.Thr391= p.T391= ENST00000404922 NM_001004019.1 391 acA/acG 0 Missense_Mutation A 8 FBLN2 SNP 3 A G 13588029 13588029 Broad ZBTB20 26137 broad.mit.edu GRCh37 3 114070129 114070129 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000474710.1:c.796G>A p.Val266Met p.V266M ENST00000474710 NM_001164342.1 266 Gtg/Atg 0 Missense_Mutation C 20 ZBTB20 SNP 3 C T 115552819 115552819 Broad OSBPL11 114885 broad.mit.edu GRCh37 3 125298793 125298793 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000296220.5:c.325G>T p.Ala109Ser p.A109S ENST00000296220 NM_022776.4 109 Gca/Tca 0 Missense_Mutation C 25 OSBPL11 SNP 3 C A 126781483 126781483 Broad PLXNA1 5361 broad.mit.edu GRCh37 3 126735405 126735405 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000393409.2:c.3060C>T p.Ser1020= p.S1020= ENST00000393409 NM_032242.3 1020 agC/agT 0 Silent C 26 PLXNA1 SNP 3 C T 128218095 128218095 Broad RNF175 285533 broad.mit.edu GRCh37 4 154636783 154636783 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000347063.4:c.662G>A p.Ser221Asn p.S221N ENST00000347063 NM_173662.2 221 aGc/aAc 0 Missense_Mutation C 28 RNF175 SNP 4 C T 154856233 154856233 Broad IQGAP2 10788 broad.mit.edu GRCh37 5 75970460 75970460 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000274364.6:c.3453C>G p.Asn1151Lys p.N1151K ENST00000274364 NM_006633.2 1151 aaC/aaG 0 Missense_Mutation C 17 IQGAP2 SNP 5 C G 76006216 76006216 Broad PPIP5K2 23262 broad.mit.edu GRCh37 5 102519086 102519086 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000321521.9:c.3074G>A p.Ser1025Asn p.S1025N ENST00000321521 1025 aGt/aAt 0 Missense_Mutation G 36 PPIP5K2 SNP 5 G A 102546985 102546985 Broad PCDHGB3 56102 broad.mit.edu GRCh37 5 140751641 140751641 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000576222.1:c.1680G>T p.Pro560= p.P560= ENST00000576222 NM_018924.2 560 ccG/ccT 0 Silent G 38 PCDHGB3 SNP 5 G T 140731825 140731825 Broad SLIT3 6586 broad.mit.edu GRCh37 5 168112727 168112727 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000519560.1:c.3520G>A p.Ala1174Thr p.A1174T ENST00000519560 NM_003062.3 1174 Gcc/Acc 0 Missense_Mutation C 27 SLIT3 SNP 5 C T 168045305 168045305 Broad SLIT3 6586 broad.mit.edu GRCh37 5 168678454 168678454 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000519560.1:c.207C>A p.Asp69Glu p.D69E ENST00000519560 NM_003062.3 69 gaC/gaA 0 Missense_Mutation G 48 SLIT3 SNP 5 G T 168611032 168611032 Broad BMP6 654 broad.mit.edu GRCh37 6 7845412 7845412 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000283147.6:c.704A>G p.His235Arg p.H235R ENST00000283147 NM_001718.4 235 cAc/cGc 0 Missense_Mutation A 6 BMP6 SNP 6 A G 7790411 7790411 Broad RNF8 9025 broad.mit.edu GRCh37 6 37358531 37358531 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000373479.4:c.1455C>T p.Phe485= p.F485= ENST00000373479 NM_003958.3 485 ttC/ttT 0 Missense_Mutation C 32 RNF8 SNP 6 C T 37466509 37466509 Broad RBAK 57786 broad.mit.edu GRCh37 7 5103357 5103357 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000396912.1:c.270A>G p.Arg90= p.R90= ENST00000396912 NM_021163.3 90 agA/agG 0 Silent A 9 RBAK SNP 7 A G 5069883 5069883 Broad GPR141 353345 broad.mit.edu GRCh37 7 37780440 37780440 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000447769.1:c.445C>T p.Pro149Ser p.P149S ENST00000447769 149 Ccc/Tcc 0 Missense_Mutation C 18 GPR141 SNP 7 C T 37746965 37746965 Broad COA1 55744 broad.mit.edu GRCh37 7 43684999 43684999 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000395879.1:c.116-1G>C p.X39_splice ENST00000395879 0 Splice_Site_SNP C 32 C7orf44 SNP 7 C G 43651524 43651524 Broad FOXP2 93986 broad.mit.edu GRCh37 7 114270012 114270012 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000408937.3:c.624G>A p.Gln208= p.Q208= ENST00000408937 NM_014491.3 208 caG/caA 0 Silent G 34 FOXP2 SNP 7 G A 114057248 114057248 Broad GIMAP1 170575 broad.mit.edu GRCh37 7 150417157 150417157 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000307194.5:c.65C>A p.Ser22Tyr p.S22Y ENST00000307194 NM_130759.3 22 tCc/tAc 0 Missense_Mutation C 30 GIMAP1 SNP 7 C A 150048090 150048090 Broad DKK4 27121 broad.mit.edu GRCh37 8 42231699 42231699 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000220812.2:c.594T>C p.Pro198= p.P198= ENST00000220812 NM_014420.2 198 ccT/ccC 0 Silent A 7 DKK4 SNP 8 A G 42350856 42350856 Broad TRPA1 8989 broad.mit.edu GRCh37 8 72948576 72948576 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000262209.4:c.2502T>C p.Cys834= p.C834= ENST00000262209 NM_007332.2 834 tgT/tgC 0 Silent A 6 TRPA1 SNP 8 A G 73111130 73111130 Broad FOCAD 54914 broad.mit.edu GRCh37 9 20923752 20923752 + synonymous_variant Silent SNP T T A novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000380249.1:c.2946T>A p.Ser982= p.S982= ENST00000380249 NM_017794.3 982 tcT/tcA 0 Silent T 55 KIAA1797 SNP 9 T A 20913752 20913752 Broad TSTD2 158427 broad.mit.edu GRCh37 9 100364996 100364996 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000341170.4:c.1306C>G p.Gln436Glu p.Q436E ENST00000341170 NM_139246.4 436 Cag/Gag 0 Missense_Mutation G 47 TSTD2 SNP 9 G C 99404817 99404817 Broad ALG2 85365 broad.mit.edu GRCh37 9 101980977 101980977 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000476832.1:c.490G>T p.Glu164Ter p.E164* ENST00000476832 NM_033087.3 164 Gaa/Taa 0 Nonsense_Mutation C 30 ALG2 SNP 9 C A 101020798 101020798 Broad ZRSR2 8233 broad.mit.edu GRCh37 X 15841272 15841272 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000307771.7:c.1356C>G p.Arg452= p.R452= ENST00000307771 NM_005089.3 452 cgC/cgG 0 Silent C 25 ZRSR2 SNP 23 C G 15751193 15751193 Broad GRIPAP1 56850 broad.mit.edu GRCh37 X 48855894 48855894 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000376441.1:c.65C>A p.Thr22Lys p.T22K ENST00000376441 NM_020137.3 22 aCa/aAa 0 Missense_Mutation G 48 GRIPAP1 SNP 23 G T 48740838 48740838 Broad DACH2 117154 broad.mit.edu GRCh37 X 85994760 85994760 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000373125.4:c.1115C>A p.Pro372Gln p.P372Q ENST00000373125 NM_053281.3 372 cCa/cAa 0 Missense_Mutation C 21 DACH2 SNP 23 C A 85881416 85881416 Broad WDR44 54521 broad.mit.edu GRCh37 X 117527021 117527021 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000254029.3:c.613G>A p.Ala205Thr p.A205T ENST00000254029 NM_019045.4 205 Gct/Act 0 Missense_Mutation G 38 WDR44 SNP 23 G A 117411049 117411049 Broad PNMA5 114824 broad.mit.edu GRCh37 X 152159366 152159366 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000439251.1:c.777C>T p.Val259= p.V259= ENST00000439251 NM_001103150.1 259 gtC/gtT 0 Silent G 33 PNMA5 SNP 23 G A 151910022 151910022 Broad ATP6AP1 537 broad.mit.edu GRCh37 X 153663713 153663713 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown x x x ENST00000369762.2:c.1065C>A p.Tyr355Ter p.Y355* ENST00000369762 NM_001183.4 355 taC/taA 0 Nonsense_Mutation C 20 ATP6AP1 SNP 23 C A 153316907 153316907 Broad DSPP 1834 broad.mit.edu GRCh37 4 88536457 88536458 + inframe_insertion In_Frame_Ins INS - - AGTAGTGAC novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000399271.1:c.2645_2646insTAGTGACAG p.Ser883_Ser885dup p.S883_S885dup ENST00000399271 NM_014208.3 881 -/AGTAGTGAC 0 In_Frame_Ins - 49 DSPP INS 4 AGTAGTGAC - 88755482 88755481 Broad INTS1 26173 broad.mit.edu GRCh37 7 1525058 1525060 + inframe_deletion In_Frame_Del DEL CTC CTC - novel Unknown TCGA-23-2072-01 TCGA-23-2072-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000404767.3:c.3022_3024del p.Glu1008del p.E1008del ENST00000404767 NM_001080453.2 1008 GAG/- 0 In_Frame_Del CTC 32 INTS1 DEL 7 - CTC 1491586 1491584 Broad PRAMEF10 343071 broad.mit.edu GRCh37 1 12954564 12954564 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000235347.4:c.719C>A p.Ala240Asp p.A240D ENST00000235347 NM_001039361.3 240 gCc/gAc 0 Missense_Mutation G 42 PRAMEF10 SNP 1 G T 12877151 12877151 Broad EIF4G3 8672 broad.mit.edu GRCh37 1 21177859 21177859 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000602326.1:c.3514C>G p.Gln1172Glu p.Q1172E ENST00000602326 NM_001198802.1 1172 Caa/Gaa 0 Missense_Mutation G 45 EIF4G3 SNP 1 G C 21050446 21050446 Broad EPB41 2035 broad.mit.edu GRCh37 1 29435908 29435908 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000343067.4:c.2374T>C p.Ser792Pro p.S792P ENST00000343067 NM_001166005.1 792 Tct/Cct 0 Missense_Mutation T 50 EPB41 SNP 1 T C 29308495 29308495 Broad HPCA 3208 broad.mit.edu GRCh37 1 33354857 33354857 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000373467.3:c.358G>C p.Glu120Gln p.E120Q ENST00000373467 NM_002143.2 120 Gag/Cag 0 Missense_Mutation G 41 HPCA SNP 1 G C 33127444 33127444 Broad TRIT1 54802 broad.mit.edu GRCh37 1 40318530 40318530 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000316891.5:c.433G>A p.Glu145Lys p.E145K ENST00000316891 NM_017646.4 145 Gag/Aag 0 Missense_Mutation C 29 TRIT1 SNP 1 C T 40091117 40091117 Broad TIE1 7075 broad.mit.edu GRCh37 1 43786953 43786953 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000372476.3:c.3121G>T p.Val1041Phe p.V1041F ENST00000372476 NM_005424.4 1041 Gtc/Ttc 0 Missense_Mutation G 36 TIE1 SNP 1 G T 43559540 43559540 Broad DPYD 1806 broad.mit.edu GRCh37 1 98293671 98293671 + stop_gained,splice_region_variant Nonsense_Mutation SNP T T A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000370192.3:c.232A>T p.Arg78Ter p.R78* ENST00000370192 NM_000110.3 78 Aga/Tga 0 Nonsense_Mutation T 54 DPYD SNP 1 T A 98066259 98066259 Broad MYBPHL 343263 broad.mit.edu GRCh37 1 109840103 109840103 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000357155.1:c.371A>C p.Gln124Pro p.Q124P ENST00000357155 NM_001265613.1 124 cAa/cCa 0 Missense_Mutation T 63 MYBPHL SNP 1 T G 109641626 109641626 Broad EPS8L3 79574 broad.mit.edu GRCh37 1 110301262 110301262 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000369805.3:c.488C>G p.Pro163Arg p.P163R ENST00000369805 NM_139053.2 163 cCa/cGa 0 Missense_Mutation G 47 EPS8L3 SNP 1 G C 110102785 110102785 Broad IGSF3 3321 broad.mit.edu GRCh37 1 117122242 117122242 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000369483.1:c.3166G>A p.Val1056Met p.V1056M ENST00000369483 NM_001542.3 1056 Gtg/Atg 0 Missense_Mutation C 19 IGSF3 SNP 1 C T 116923765 116923765 Broad ANKRD35 148741 broad.mit.edu GRCh37 1 145563050 145563050 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000355594.4:c.2738A>T p.Lys913Ile p.K913I ENST00000355594 NM_144698.4 913 aAa/aTa 0 Missense_Mutation A 1 ANKRD35 SNP 1 A T 144274407 144274407 Broad RPRD2 23248 broad.mit.edu GRCh37 1 150418821 150418821 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000369068.4:c.814G>C p.Glu272Gln p.E272Q ENST00000369068 NM_015203.3 272 Gaa/Caa 0 Missense_Mutation G 41 RPRD2 SNP 1 G C 148685445 148685445 Broad FLG2 388698 broad.mit.edu GRCh37 1 152328546 152328546 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000388718.5:c.1716G>C p.Leu572Phe p.L572F ENST00000388718 NM_001014342.2 572 ttG/ttC 0 Missense_Mutation C 21 FLG2 SNP 1 C G 150595170 150595170 Broad NTRK1 4914 broad.mit.edu GRCh37 1 156841488 156841488 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000524377.1:c.791C>T p.Thr264Met p.T264M ENST00000524377 NM_002529.3 264 aCg/aTg 0 Missense_Mutation C 19 NTRK1 SNP 1 C T 155108112 155108112 Broad NTRK1 4914 broad.mit.edu GRCh37 1 156845981 156845981 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000524377.1:c.1611C>A p.Asp537Glu p.D537E ENST00000524377 NM_002529.3 537 gaC/gaA 0 Missense_Mutation C 17 NTRK1 SNP 1 C A 155112605 155112605 Broad FCRL5 83416 broad.mit.edu GRCh37 1 157508937 157508937 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000361835.3:c.1341C>T p.Tyr447= p.Y447= ENST00000361835 NM_001195388.1 447 taC/taT 0 Silent G 36 FCRL5 SNP 1 G A 155775561 155775561 Broad GPR161 23432 broad.mit.edu GRCh37 1 168073976 168073976 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000537209.1:c.173C>G p.Thr58Ser p.T58S ENST00000537209 NM_001267609.1 58 aCc/aGc 0 Missense_Mutation G 44 GPR161 SNP 1 G C 166340600 166340600 Broad AVPR1B 553 broad.mit.edu GRCh37 1 206224928 206224928 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000367126.4:c.488T>A p.Ile163Asn p.I163N ENST00000367126 NM_000707.3 163 aTc/aAc 0 Missense_Mutation T 50 AVPR1B SNP 1 T A 204391551 204391551 Broad ZNF485 220992 broad.mit.edu GRCh37 10 44104095 44104095 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000361807.3:c.58T>G p.Phe20Val p.F20V ENST00000361807 NM_145312.3 20 Ttt/Gtt 0 Missense_Mutation T 56 ZNF485 SNP 10 T G 43424101 43424101 Broad PAPSS2 9060 broad.mit.edu GRCh37 10 89503196 89503196 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000456849.1:c.1289C>G p.Thr430Ser p.T430S ENST00000456849 NM_001015880.1 430 aCt/aGt 0 Missense_Mutation C 20 PAPSS2 SNP 10 C G 89493176 89493176 Broad EXOC6 54536 broad.mit.edu GRCh37 10 94654744 94654744 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000260762.6:c.379A>G p.Thr127Ala p.T127A ENST00000260762 NM_019053.4 127 Act/Gct 0 Missense_Mutation A 2 EXOC6 SNP 10 A G 94644724 94644724 Broad SLIT1 6585 broad.mit.edu GRCh37 10 98807736 98807736 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000266058.4:c.1483A>T p.Ile495Phe p.I495F ENST00000266058 NM_003061.2 495 Att/Ttt 0 Missense_Mutation T 51 SLIT1 SNP 10 T A 98797726 98797726 Broad ACADSB 36 broad.mit.edu GRCh37 10 124800142 124800142 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000358776.4:c.464C>G p.Thr155Arg p.T155R ENST00000358776 NM_001609.3 155 aCa/aGa 0 Missense_Mutation C 17 ACADSB SNP 10 C G 124790132 124790132 Broad OR52A4 390053 broad.mit.edu GRCh37 11 5142372 5142372 + downstream_gene_variant 3'Flank SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000498233 0 Missense_Mutation G 36 OR52A4 SNP 11 G T 5098948 5098948 Broad OR52N5 390075 broad.mit.edu GRCh37 11 5799507 5799507 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000317093.2:c.358G>T p.Glu120Ter p.E120* ENST00000317093 NM_001001922.2 120 Gag/Tag 0 Nonsense_Mutation C 30 OR52N5 SNP 11 C A 5756083 5756083 Broad SMPD1 6609 broad.mit.edu GRCh37 11 6415741 6415741 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000342245.4:c.1800T>G p.Ser600= p.S600= ENST00000342245 NM_001007593.2 600 tcT/tcG 0 Silent T 55 SMPD1 SNP 11 T G 6372317 6372317 Broad OR6A2 8590 broad.mit.edu GRCh37 11 6816839 6816839 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000332601.3:c.101T>C p.Leu34Pro p.L34P ENST00000332601 NM_003696.2 34 cTg/cCg 0 Missense_Mutation A 7 OR6A2 SNP 11 A G 6773415 6773415 Broad OR4C46 119749 broad.mit.edu GRCh37 11 51515956 51515956 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000328188.1:c.675T>A p.Thr225= p.T225= ENST00000328188 NM_001004703.1 225 acT/acA 0 Silent T 54 OR4C46 SNP 11 T A 51372532 51372532 Broad OR6Q1 219952 broad.mit.edu GRCh37 11 57798751 57798751 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000302622.3:c.327C>A p.Thr109= p.T109= ENST00000302622 NM_001005186.2 109 acC/acA 0 Silent C 24 OR6Q1 SNP 11 C A 57555327 57555327 Broad OR1S2 219958 broad.mit.edu GRCh37 11 57971290 57971290 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000302592.6:c.364G>A p.Val122Ile p.V122I ENST00000302592 NM_001004459.1 122 Gtc/Atc 0 Missense_Mutation C 19 OR1S2 SNP 11 C T 57727866 57727866 Broad AHNAK 79026 broad.mit.edu GRCh37 11 62291166 62291166 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000378024.4:c.10723C>T p.Pro3575Ser p.P3575S ENST00000378024 NM_001620.2 3575 Cca/Tca 0 Missense_Mutation G 42 AHNAK SNP 11 G A 62047742 62047742 Broad CPT1A 1374 broad.mit.edu GRCh37 11 68548134 68548134 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000265641.5:c.1432G>T p.Ala478Ser p.A478S ENST00000265641 NM_001876.3 478 Gcg/Tcg 0 Missense_Mutation C 25 CPT1A SNP 11 C A 68304710 68304710 Broad ARHGEF17 9828 broad.mit.edu GRCh37 11 73075609 73075609 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000263674.3:c.5514A>G p.Arg1838= p.R1838= ENST00000263674 NM_014786.3 1838 cgA/cgG 0 Silent A 11 ARHGEF17 SNP 11 A G 72753257 72753257 Broad FAT3 120114 broad.mit.edu GRCh37 11 92495111 92495111 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000298047.6:c.3759G>T p.Gln1253His p.Q1253H ENST00000298047 1253 caG/caT 0 Missense_Mutation G 36 FAT3 SNP 11 G T 92134759 92134759 Broad DYNC2H1 79659 broad.mit.edu GRCh37 11 103027164 103027164 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000398093.3:c.3792A>T p.Leu1264Phe p.L1264F ENST00000398093 1264 ttA/ttT 0 Missense_Mutation A 14 DYNC2H1 SNP 11 A T 102532374 102532374 Broad DSCAML1 57453 broad.mit.edu GRCh37 11 117299111 117299111 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000321322.6:c.6275C>T p.Thr2092Ile p.T2092I ENST00000321322 NM_020693.2 2092 aCa/aTa 0 Missense_Mutation G 48 DSCAML1 SNP 11 G A 116804321 116804321 Broad TECTA 7007 broad.mit.edu GRCh37 11 121037383 121037383 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000392793.1:c.5480G>C p.Arg1827Thr p.R1827T ENST00000392793 1827 aGg/aCg 0 Missense_Mutation G 35 TECTA SNP 11 G C 120542593 120542593 Broad CRTAM 56253 broad.mit.edu GRCh37 11 122726443 122726443 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000227348.4:c.531T>A p.Cys177Ter p.C177* ENST00000227348 NM_019604.2 177 tgT/tgA 0 Nonsense_Mutation T 57 CRTAM SNP 11 T A 122231653 122231653 Broad ARHGAP32 9743 broad.mit.edu GRCh37 11 128843289 128843289 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000310343.9:c.3070G>T p.Val1024Phe p.V1024F ENST00000310343 NM_001142685.1 1024 Gtc/Ttc 0 Missense_Mutation C 17 ARHGAP32 SNP 11 C A 128348499 128348499 Broad SLC2A14 144195 broad.mit.edu GRCh37 12 7967124 7967124 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000543909.1:c.1351T>G p.Leu451Val p.L451V ENST00000543909 NM_001286233.1 451 Tta/Gta 0 Missense_Mutation A 1 SLC2A14 SNP 12 A C 7858391 7858391 Broad GPRC5A 9052 broad.mit.edu GRCh37 12 13061770 13061770 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000014914.5:c.587C>T p.Ser196Phe p.S196F ENST00000014914 NM_003979.3 196 tCc/tTc 0 Missense_Mutation C 30 GPRC5A SNP 12 C T 12953037 12953037 Broad HOXC9 3225 broad.mit.edu GRCh37 12 54396404 54396404 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000303450.4:c.729A>G p.Arg243= p.R243= ENST00000303450 NM_006897.1 243 cgA/cgG 0 Silent A 9 HOXC9 SNP 12 A G 52682671 52682671 Broad DGKA 1606 broad.mit.edu GRCh37 12 56346576 56346576 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000331886.5:c.1802A>C p.Asn601Thr p.N601T ENST00000331886 NM_001345.4 601 aAc/aCc 0 Missense_Mutation A 2 DGKA SNP 12 A C 54632843 54632843 Broad CS 1431 broad.mit.edu GRCh37 12 56667402 56667402 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000351328.3:c.1199A>G p.Asn400Ser p.N400S ENST00000351328 NM_004077.2 400 aAt/aGt 0 Missense_Mutation T 52 CS SNP 12 T C 54953669 54953669 Broad SOCS2 8835 broad.mit.edu GRCh37 12 93968573 93968573 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000340600.2:c.215T>A p.Ile72Asn p.I72N ENST00000340600 NM_003877.4 72 aTt/aAt 0 Missense_Mutation T 52 SOCS2 SNP 12 T A 92492704 92492704 Broad CUX2 23316 broad.mit.edu GRCh37 12 111786039 111786039 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000261726.6:c.4371G>C p.Arg1457= p.R1457= ENST00000261726 NM_015267.3 1457 cgG/cgC 0 Silent G 42 CUX2 SNP 12 G C 110270422 110270422 Broad RNASE13 440163 broad.mit.edu GRCh37 14 21502218 21502218 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000382951.3:c.230C>A p.Ala77Asp p.A77D ENST00000382951 NM_001012264.3 77 gCc/gAc 0 Missense_Mutation G 42 RNASE13 SNP 14 G T 20572058 20572058 Broad C14orf28 122525 broad.mit.edu GRCh37 14 45369708 45369708 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000325192.3:c.70A>T p.Arg24Trp p.R24W ENST00000325192 NM_001017923.1 24 Agg/Tgg 0 Missense_Mutation A 15 C14orf28 SNP 14 A T 44439458 44439458 Broad ZBTB25 7597 broad.mit.edu GRCh37 14 64954669 64954669 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000608382.1:c.280C>T p.Arg94Cys p.R94C ENST00000608382 NM_006977.2 94 Cgt/Tgt 0 Missense_Mutation G 37 ZBTB25 SNP 14 G A 64024422 64024422 Broad ASB2 51676 broad.mit.edu GRCh37 14 94417441 94417441 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000555019.1:c.784G>A p.Ala262Thr p.A262T ENST00000555019 NM_001202429.1 262 Gcc/Acc 0 Missense_Mutation C 28 ASB2 SNP 14 C T 93487194 93487194 Broad NPAP1 23742 broad.mit.edu GRCh37 15 24922882 24922882 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000329468.2:c.1868C>A p.Pro623Gln p.P623Q ENST00000329468 NM_018958.2 623 cCa/cAa 0 Missense_Mutation C 21 C15orf2 SNP 15 C A 22473975 22473975 Broad HYPK 25764 broad.mit.edu GRCh37 15 44092896 44092896 + synonymous_variant Silent SNP C C A rs34257400 Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000406925.1:c.100C>A p.Arg34= p.R34= ENST00000406925 34 Cgg/Agg 0 Silent C 19 C15ORF63 SNP 15 C A 41880188 41880188 Broad FBN1 2200 broad.mit.edu GRCh37 15 48707945 48707945 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000316623.5:c.7839C>T p.Ser2613= p.S2613= ENST00000316623 NM_000138.4 2613 agC/agT 0 Silent G 38 FBN1 SNP 15 G A 46495237 46495237 Broad UNC13C 440279 broad.mit.edu GRCh37 15 54306889 54306889 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000260323.11:c.1789C>A p.Leu597Met p.L597M ENST00000260323 NM_001080534.1 597 Ctg/Atg 0 Missense_Mutation C 24 UNC13C SNP 15 C A 52094181 52094181 Broad VPS13C 54832 broad.mit.edu GRCh37 15 62199518 62199518 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000261517.5:c.9050C>A p.Thr3017Asn p.T3017N ENST00000261517 NM_020821.2 3017 aCc/aAc 0 Missense_Mutation G 44 VPS13C SNP 15 G T 59986810 59986810 Broad CELF6 60677 broad.mit.edu GRCh37 15 72580883 72580883 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000287202.5:c.1170A>C p.Arg390Ser p.R390S ENST00000287202 NM_052840.4 390 agA/agC 0 Missense_Mutation T 54 CELF6 SNP 15 T G 70367937 70367937 Broad RASGRF1 5923 broad.mit.edu GRCh37 15 79292250 79292250 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000419573.3:c.2629C>T p.Pro877Ser p.P877S ENST00000419573 NM_002891.4 877 Cca/Tca 0 Missense_Mutation G 43 RASGRF1 SNP 15 G A 77079305 77079305 Broad SH3GL3 6457 broad.mit.edu GRCh37 15 84287022 84287022 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000427482.2:c.1027G>A p.Val343Met p.V343M ENST00000427482 NM_003027.3 343 Gtg/Atg 0 Missense_Mutation G 40 SH3GL3 SNP 15 G A 82078026 82078026 Broad NOMO1 23420 broad.mit.edu GRCh37 16 14960538 14960538 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000287667.7:c.1796C>T p.Ala599Val p.A599V ENST00000287667 NM_014287.3 599 gCc/gTc 0 Missense_Mutation C 26 NOMO1 SNP 16 C T 14868039 14868039 Broad SRCAP 10847 broad.mit.edu GRCh37 16 30740862 30740862 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000262518.4:c.6096C>G p.Phe2032Leu p.F2032L ENST00000262518 NM_006662.2 2032 ttC/ttG 0 Missense_Mutation C 30 SRCAP SNP 16 C G 30648363 30648363 Broad PRSS36 146547 broad.mit.edu GRCh37 16 31154937 31154937 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000268281.4:c.942G>A p.Arg314= p.R314= ENST00000268281 NM_173502.4 314 agG/agA 0 Silent C 22 PRSS36 SNP 16 C T 31062438 31062438 Broad CNGB1 1258 broad.mit.edu GRCh37 16 57957259 57957259 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000251102.8:c.1561G>T p.Glu521Ter p.E521* ENST00000251102 NM_001297.4 521 Gag/Tag 0 Nonsense_Mutation C 29 CNGB1 SNP 16 C A 56514760 56514760 Broad FAM92B 339145 broad.mit.edu GRCh37 16 85138981 85138981 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000539556.1:c.489G>T p.Leu163= p.L163= ENST00000539556 NM_198491.1 163 ctG/ctT 0 Silent C 21 FAM92B SNP 16 C A 83696482 83696482 Broad SPG7 6687 broad.mit.edu GRCh37 16 89576909 89576909 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000268704.2:c.195G>A p.Leu65= p.L65= ENST00000268704 NM_003119.2 65 ttG/ttA 0 Silent G 45 SPG7 SNP 16 G A 88104410 88104410 Broad ULK2 9706 broad.mit.edu GRCh37 17 19700937 19700937 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000395544.4:c.1581G>T p.Gln527His p.Q527H ENST00000395544 NM_014683.3 527 caG/caT 0 Missense_Mutation C 32 ULK2 SNP 17 C A 19641529 19641529 Broad SEZ6 124925 broad.mit.edu GRCh37 17 27285049 27285049 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000317338.12:c.2218C>A p.Pro740Thr p.P740T ENST00000317338 740 Cct/Act 0 Missense_Mutation G 43 SEZ6 SNP 17 G T 24309175 24309175 Broad ASIC2 40 broad.mit.edu GRCh37 17 32483404 32483404 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000359872.6:c.148G>A p.Val50Met p.V50M ENST00000359872 NM_001094.4 50 Gtg/Atg 0 Missense_Mutation C 19 ACCN1 SNP 17 C T 29507517 29507517 Broad TAF15 8148 broad.mit.edu GRCh37 17 34165477 34165477 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000588240.1:c.833A>T p.Asp278Val p.D278V ENST00000588240 NM_139215.2 278 gAc/gTc 0 Missense_Mutation A 10 TAF15 SNP 17 A T 31189590 31189590 Broad CACNA1G 8913 broad.mit.edu GRCh37 17 48687291 48687291 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000359106.5:c.4754C>G p.Ala1585Gly p.A1585G ENST00000359106 NM_018896.4 1585 gCg/gGg 0 Missense_Mutation C 27 CACNA1G SNP 17 C G 46042290 46042290 Broad MSI2 124540 broad.mit.edu GRCh37 17 55334854 55334854 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000284073.2:c.131T>G p.Phe44Cys p.F44C ENST00000284073 NM_138962.2 44 tTt/tGt 0 Missense_Mutation T 64 MSI2 SNP 17 T G 52689853 52689853 Broad PPM1E 22843 broad.mit.edu GRCh37 17 57057692 57057692 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000308249.2:c.1568G>T p.Gly523Val p.G523V ENST00000308249 NM_014906.4 523 gGa/gTa 0 Missense_Mutation G 41 PPM1E SNP 17 G T 54412474 54412474 Broad SEC14L1 6397 broad.mit.edu GRCh37 17 75187363 75187364 + missense_variant Missense_Mutation DNP GG GG CC novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000392476.2:c.314_315inv p.Arg105Pro p.R105P ENST00000392476 NM_001204408.1 105 cGG/cCC 0 Missense_Mutation GG 39 SEC14L1 DNP 17 GG CC 72698959 72698958 Broad DSG1 1828 broad.mit.edu GRCh37 18 28923481 28923481 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000257192.4:c.1756G>T p.Val586Phe p.V586F ENST00000257192 NM_001942.2 586 Gtt/Ttt 0 Missense_Mutation G 48 DSG1 SNP 18 G T 27177479 27177479 Broad GALNT1 2589 broad.mit.edu GRCh37 18 33234701 33234701 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000269195.5:c.75G>A p.Leu25= p.L25= ENST00000269195 NM_020474.3 25 ctG/ctA 0 Silent G 46 GALNT1 SNP 18 G A 31488699 31488699 Broad PTPRS 5802 broad.mit.edu GRCh37 19 5265025 5265025 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000357368.4:c.562C>T p.Arg188Ter p.R188* ENST00000357368 NM_002850.3 188 Cga/Tga 0 Nonsense_Mutation G 38 PTPRS SNP 19 G A 5216025 5216025 Broad CATSPERD 257062 broad.mit.edu GRCh37 19 5772900 5772900 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000381624.3:c.1865C>G p.Ala622Gly p.A622G ENST00000381624 NM_152784.3 622 gCc/gGc 0 Missense_Mutation C 26 TMEM146 SNP 19 C G 5723900 5723900 Broad INSR 3643 broad.mit.edu GRCh37 19 7122978 7122978 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000302850.5:c.3281C>A p.Ser1094Tyr p.S1094Y ENST00000302850 NM_000208.2 1094 tCc/tAc 0 Missense_Mutation G 41 INSR SNP 19 G T 7073978 7073978 Broad COL5A3 50509 broad.mit.edu GRCh37 19 10084475 10084475 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000264828.3:c.3569G>T p.Gly1190Val p.G1190V ENST00000264828 NM_015719.3 1190 gGg/gTg 0 Missense_Mutation C 22 COL5A3 SNP 19 C A 9945475 9945475 Broad DNM2 1785 broad.mit.edu GRCh37 19 10908071 10908071 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000389253.4:c.1212C>A p.Thr404= p.T404= ENST00000389253 NM_001005361.2 404 acC/acA 0 Silent C 22 DNM2 SNP 19 C A 10769071 10769071 Broad NDUFA13 51079 broad.mit.edu GRCh37 19 19627083 19627083 + synonymous_variant Silent SNP G G C rs11552886 Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000507754.4:c.36G>C p.Pro12= p.P12= ENST00000507754 12 ccG/ccC 0 Silent G 38 NDUFA13 SNP 19 G C 19488083 19488083 Broad ZNF546 339327 broad.mit.edu GRCh37 19 40513243 40513243 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000347077.4:c.234C>T p.Asp78= p.D78= ENST00000347077 NM_178544.3 78 gaC/gaT 0 Silent C 19 ZNF546 SNP 19 C T 45205083 45205083 Broad GRIN2D 2906 broad.mit.edu GRCh37 19 48925110 48925110 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000263269.3:c.2160G>A p.Lys720= p.K720= ENST00000263269 NM_000836.2 720 aaG/aaA 0 Silent G 33 GRIN2D SNP 19 G A 53616922 53616922 Broad GRIN2D 2906 broad.mit.edu GRCh37 19 48925177 48925177 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000263269.3:c.2227G>A p.Glu743Lys p.E743K ENST00000263269 NM_000836.2 743 Gaa/Aaa 0 Missense_Mutation G 41 GRIN2D SNP 19 G A 53616989 53616989 Broad GYS1 2997 broad.mit.edu GRCh37 19 49485527 49485527 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000323798.3:c.1047C>G p.Leu349= p.L349= ENST00000323798 NM_002103.4 349 ctC/ctG 0 Silent G 45 GYS1 SNP 19 G C 54177339 54177339 Broad KIR3DL3 115653 broad.mit.edu GRCh37 19 55246748 55246748 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000291860.1:c.978T>G p.Ile326Met p.I326M ENST00000291860 NM_153443.3 326 atT/atG 0 Missense_Mutation T 63 KIR3DL3 SNP 19 T G 59938560 59938560 Broad NLRP8 126205 broad.mit.edu GRCh37 19 56463906 56463906 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000291971.3:c.370A>C p.Ile124Leu p.I124L ENST00000291971 NM_176811.2 124 Att/Ctt 0 Missense_Mutation A 8 NLRP8 SNP 19 A C 61155718 61155718 Broad NDUFAF7 55471 broad.mit.edu GRCh37 2 37473247 37473247 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000002125.4:c.845T>C p.Ile282Thr p.I282T ENST00000002125 NM_144736.4 282 aTc/aCc 0 Missense_Mutation T 50 C2orf56 SNP 2 T C 37326751 37326751 Broad ADD2 119 broad.mit.edu GRCh37 2 70919667 70919667 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000264436.4:c.573G>A p.Leu191= p.L191= ENST00000264436 NM_001617.3 191 ctG/ctA 0 Silent C 21 ADD2 SNP 2 C T 70773175 70773175 Broad C2orf78 388960 broad.mit.edu GRCh37 2 74040994 74040994 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000409561.1:c.488C>A p.Ala163Asp p.A163D ENST00000409561 NM_001080474.1 163 gCc/gAc 0 Missense_Mutation C 26 C2orf78 SNP 2 C A 73894502 73894502 Broad TET3 200424 broad.mit.edu GRCh37 2 74275380 74275380 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000409262.3:c.1931G>A p.Gly644Glu p.G644E ENST00000409262 NM_144993.1 644 gGa/gAa 0 Missense_Mutation G 41 TET3 SNP 2 G A 74128888 74128888 Broad ARHGEF4 50649 broad.mit.edu GRCh37 2 131801135 131801135 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000326016.5:c.1578C>T p.His526= p.H526= ENST00000326016 NM_015320.3 526 caC/caT 0 Silent C 18 ARHGEF4 SNP 2 C T 131517605 131517605 Broad PKP4 8502 broad.mit.edu GRCh37 2 159488436 159488436 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000389759.3:c.1325T>C p.Leu442Ser p.L442S ENST00000389759 NM_003628.3 442 tTg/tCg 0 Missense_Mutation T 63 PKP4 SNP 2 T C 159196682 159196682 Broad PDE11A 50940 broad.mit.edu GRCh37 2 178769908 178769908 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000286063.6:c.1078C>A p.Gln360Lys p.Q360K ENST00000286063 NM_016953.3 360 Cag/Aag 0 Missense_Mutation G 46 PDE11A SNP 2 G T 178478154 178478154 Broad DNAH7 56171 broad.mit.edu GRCh37 2 196661445 196661445 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000312428.6:c.10370A>T p.Lys3457Ile p.K3457I ENST00000312428 NM_018897.2 3457 aAa/aTa 0 Missense_Mutation T 64 DNAH7 SNP 2 T A 196369690 196369690 Broad CYP20A1 57404 broad.mit.edu GRCh37 2 204143408 204143408 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000356079.4:c.792A>G p.Gln264= p.Q264= ENST00000356079 NM_177538.2 264 caA/caG 0 Silent A 2 CYP20A1 SNP 2 A G 203851653 203851653 Broad UGT1A5 54579 broad.mit.edu GRCh37 2 234621894 234621894 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000373414.3:c.257A>C p.Gln86Pro p.Q86P ENST00000373414 86 cAg/cCg 0 Missense_Mutation A 7 UGT1A5 SNP 2 A C 234286633 234286633 Broad OR6B3 150681 broad.mit.edu GRCh37 2 240985219 240985219 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000319423.4:c.271C>T p.Arg91Cys p.R91C ENST00000319423 NM_173351.1 91 Cgc/Tgc 0 Missense_Mutation G 40 OR6B3 SNP 2 G A 240633892 240633892 Broad TGIF2 60436 broad.mit.edu GRCh37 20 35219660 35219660 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000373874.2:c.540C>T p.Phe180= p.F180= ENST00000373874 NM_001199514.1 180 ttC/ttT 0 Silent C 29 TGIF2 SNP 20 C T 34653074 34653074 Broad ZNF831 128611 broad.mit.edu GRCh37 20 57829349 57829349 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000371030.2:c.4585C>A p.Pro1529Thr p.P1529T ENST00000371030 NM_178457.2 1529 Cca/Aca 0 Missense_Mutation C 22 ZNF831 SNP 20 C A 57262744 57262744 Broad KRTAP20-2 337976 broad.mit.edu GRCh37 21 32007753 32007753 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000330798.2:c.171A>T p.Gly57= p.G57= ENST00000330798 NM_181616.1 57 ggA/ggT 0 Silent A 9 KRTAP20-2 SNP 21 A T 30929624 30929624 Broad PRDM15 63977 broad.mit.edu GRCh37 21 43246400 43246400 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000269844.3:c.2643A>G p.Arg881= p.R881= ENST00000269844 NM_022115.3 881 cgA/cgG 0 Silent T 54 PRDM15 SNP 21 T C 42119469 42119469 Broad TMEM211 255349 broad.mit.edu GRCh37 22 25334229 25334229 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000407886.1:c.14G>C p.Gly5Ala p.G5A ENST00000407886 5 gGc/gCc 0 Missense_Mutation C 26 TMEM211 SNP 22 C G 23664229 23664229 Broad NCF4 4689 broad.mit.edu GRCh37 22 37271866 37271866 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000397147.4:c.799C>A p.Pro267Thr p.P267T ENST00000397147 NM_013416.3 267 Cca/Aca 0 Missense_Mutation C 26 NCF4 SNP 22 C A 35601812 35601812 Broad SSUH2 51066 broad.mit.edu GRCh37 3 8675578 8675578 + intron_variant Intron SNP G G C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000544814.1:c.210-97C>G *70* ENST00000544814 NM_001256748.1 0 Missense_Mutation G 35 C3orf32 SNP 3 G C 8650578 8650578 Broad KCNH8 131096 broad.mit.edu GRCh37 3 19384132 19384132 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000328405.2:c.496C>G p.Arg166Gly p.R166G ENST00000328405 NM_144633.2 166 Cgg/Ggg 0 Missense_Mutation C 19 KCNH8 SNP 3 C G 19359136 19359136 Broad EOMES 8320 broad.mit.edu GRCh37 3 27758585 27758585 + stop_gained Nonsense_Mutation SNP A A C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000295743.4:c.2037T>G p.Tyr679Ter p.Y679* ENST00000295743 NM_005442.3 679 taT/taG 0 Nonsense_Mutation A 4 EOMES SNP 3 A C 27733589 27733589 Broad NBEAL2 23218 broad.mit.edu GRCh37 3 47046018 47046019 + missense_variant Missense_Mutation DNP TA TA CC novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000450053.3:c.6232_6233delinsCC p.Tyr2078Pro p.Y2078P ENST00000450053 NM_015175.2 2078 TAc/CCc 0 Missense_Mutation TA 57 NBEAL2 DNP 3 TA CC 47021023 47021022 Broad DNAH1 25981 broad.mit.edu GRCh37 3 52403854 52403854 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000420323.2:c.5957T>C p.Met1986Thr p.M1986T ENST00000420323 NM_015512.4 1986 aTg/aCg 0 Missense_Mutation T 51 DNAH1 SNP 3 T C 52378894 52378894 Broad CADPS 8618 broad.mit.edu GRCh37 3 62499332 62499332 + intron_variant Intron SNP T T G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000383710.4:c.2582-889A>C *861* ENST00000383710 NM_003716.3 0 Missense_Mutation T 56 CADPS SNP 3 T G 62474372 62474372 Broad PHLDB2 90102 broad.mit.edu GRCh37 3 111672788 111672788 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000431670.2:c.2784C>A p.Pro928= p.P928= ENST00000431670 NM_001134438.1 928 ccC/ccA 0 Silent C 22 PHLDB2 SNP 3 C A 113155478 113155478 Broad PFN2 5217 broad.mit.edu GRCh37 3 149686160 149686160 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000239940.7:c.310G>C p.Gly104Arg p.G104R ENST00000239940 104 Ggc/Cgc 0 Missense_Mutation C 23 PFN2 SNP 3 C G 151168850 151168850 Broad TACC3 10460 broad.mit.edu GRCh37 4 1742565 1742565 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000313288.4:c.2075A>G p.Lys692Arg p.K692R ENST00000313288 NM_006342.2 692 aAg/aGg 0 Missense_Mutation A 3 TACC3 SNP 4 A G 1712363 1712363 Broad WHSC1 7468 broad.mit.edu GRCh37 4 1919957 1919957 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000382891.5:c.1017G>A p.Glu339= p.E339= ENST00000382891 NM_133335.3 339 gaG/gaA 0 Silent G 34 WHSC1 SNP 4 G A 1889755 1889755 Broad PDGFRA 5156 broad.mit.edu GRCh37 4 55130020 55130020 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000257290.5:c.554G>A p.Gly185Glu p.G185E ENST00000257290 NM_006206.4 185 gGg/gAg 0 Missense_Mutation G 43 PDGFRA SNP 4 G A 54824777 54824777 Broad DMP1 1758 broad.mit.edu GRCh37 4 88583266 88583266 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000339673.6:c.336C>T p.Asp112= p.D112= ENST00000339673 NM_004407.3 112 gaC/gaT 0 Silent C 17 DMP1 SNP 4 C T 88802290 88802290 Broad FGA 2243 broad.mit.edu GRCh37 4 155506959 155506959 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000302053.3:c.1622T>A p.Val541Asp p.V541D ENST00000302053 NM_000508.3 541 gTc/gAc 0 Missense_Mutation A 10 FGA SNP 4 A T 155726409 155726409 Broad RAPGEF2 9693 broad.mit.edu GRCh37 4 160264553 160264553 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000264431.4:c.2768C>T p.Thr923Ile p.T923I ENST00000264431 NM_014247.2 923 aCt/aTt 0 Missense_Mutation C 20 RAPGEF2 SNP 4 C T 160484003 160484003 Broad DNAH5 1767 broad.mit.edu GRCh37 5 13913898 13913898 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000265104.4:c.1490A>C p.Gln497Pro p.Q497P ENST00000265104 NM_001369.2 497 cAa/cCa 0 Missense_Mutation T 63 DNAH5 SNP 5 T G 13966898 13966898 Broad RICTOR 253260 broad.mit.edu GRCh37 5 38964946 38964946 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000357387.3:c.1348C>T p.Pro450Ser p.P450S ENST00000357387 NM_152756.3 450 Cca/Tca 0 Missense_Mutation G 42 RICTOR SNP 5 G A 39000703 39000703 Broad GHR 2690 broad.mit.edu GRCh37 5 42718778 42718778 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000230882.4:c.1169G>C p.Cys390Ser p.C390S ENST00000230882 NM_001242406.2 390 tGt/tCt 0 Missense_Mutation G 48 GHR SNP 5 G C 42754535 42754535 Broad C5orf34 375444 broad.mit.edu GRCh37 5 43508704 43508704 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000306862.2:c.260C>G p.Thr87Ser p.T87S ENST00000306862 NM_198566.2 87 aCc/aGc 0 Missense_Mutation G 44 C5orf34 SNP 5 G C 43544461 43544461 Broad KIF3A 11127 broad.mit.edu GRCh37 5 132038260 132038260 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000378746.4:c.1667C>T p.Ala556Val p.A556V ENST00000378746 NM_007054.5 556 gCa/gTa 0 Missense_Mutation G 46 KIF3A SNP 5 G A 132066159 132066159 Broad AFF4 27125 broad.mit.edu GRCh37 5 132223577 132223577 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000265343.5:c.2894C>T p.Ser965Phe p.S965F ENST00000265343 NM_014423.3 965 tCc/tTc 0 Missense_Mutation G 41 AFF4 SNP 5 G A 132251476 132251476 Broad IK 3550 broad.mit.edu GRCh37 5 140031363 140031363 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000417647.2:c.148G>T p.Ala50Ser p.A50S ENST00000417647 NM_006083.3 50 Gca/Tca 0 Missense_Mutation G 46 IK SNP 5 G T 140011547 140011547 Broad PCDHA4 56144 broad.mit.edu GRCh37 5 140188077 140188077 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000530339.1:c.1305G>A p.Leu435= p.L435= ENST00000530339 NM_018907.2 435 ctG/ctA 0 Silent G 48 PCDHA4 SNP 5 G A 140168261 140168261 Broad TCERG1 10915 broad.mit.edu GRCh37 5 145887487 145887487 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000296702.5:c.2962C>G p.Pro988Ala p.P988A ENST00000296702 NM_006706.3 988 Cct/Gct 0 Missense_Mutation C 30 TCERG1 SNP 5 C G 145867680 145867680 Broad DSP 1832 broad.mit.edu GRCh37 6 7578101 7578101 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000379802.3:c.2967T>C p.Ser989= p.S989= ENST00000379802 NM_004415.2 989 tcT/tcC 0 Silent T 55 DSP SNP 6 T C 7523100 7523100 Broad SLC17A1 6568 broad.mit.edu GRCh37 6 25811900 25811900 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000244527.4:c.996C>A p.Ser332Arg p.S332R ENST00000244527 NM_005074.3 332 agC/agA 0 Missense_Mutation G 38 SLC17A1 SNP 6 G T 25919879 25919879 Broad HIST1H1A 3024 broad.mit.edu GRCh37 6 26017749 26017749 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000244573.3:c.212C>T p.Ala71Val p.A71V ENST00000244573 NM_005325.3 71 gCc/gTc 0 Missense_Mutation G 42 HIST1H1A SNP 6 G A 26125728 26125728 Broad MLIP 90523 broad.mit.edu GRCh37 6 54095652 54095652 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000274897.5:c.1254C>T p.Ser418= p.S418= ENST00000274897 NM_138569.2 418 tcC/tcT 0 Silent C 24 C6orf142 SNP 6 C T 54203611 54203611 Broad BAI3 577 broad.mit.edu GRCh37 6 69348991 69348991 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000370598.1:c.424C>A p.Gln142Lys p.Q142K ENST00000370598 NM_001704.2 142 Cag/Aag 0 Missense_Mutation C 17 BAI3 SNP 6 C A 69405712 69405712 Broad OLIG3 167826 broad.mit.edu GRCh37 6 137815211 137815211 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000367734.2:c.97C>A p.Gln33Lys p.Q33K ENST00000367734 NM_175747.2 33 Cag/Aag 0 Missense_Mutation G 47 OLIG3 SNP 6 G T 137856904 137856904 Broad AIG1 51390 broad.mit.edu GRCh37 6 143382186 143382186 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000357847.4:c.124C>G p.Leu42Val p.L42V ENST00000357847 NM_016108.2 42 Ctg/Gtg 0 Missense_Mutation C 24 AIG1 SNP 6 C G 143423879 143423879 Broad CARD11 84433 broad.mit.edu GRCh37 7 2954938 2954938 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000396946.4:c.2772G>A p.Gly924= p.G924= ENST00000396946 NM_032415.4 924 ggG/ggA 0 Silent C 30 CARD11 SNP 7 C T 2921464 2921464 Broad SDK1 221935 broad.mit.edu GRCh37 7 3991483 3991483 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000404826.2:c.1081G>T p.Val361Phe p.V361F ENST00000404826 NM_152744.3 361 Gtc/Ttc 0 Missense_Mutation G 40 SDK1 SNP 7 G T 3958009 3958009 Broad GTF2IRD1 9569 broad.mit.edu GRCh37 7 73922455 73922455 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000455841.2:c.45C>T p.Cys15= p.C15= ENST00000455841 NM_001199207.1 15 tgC/tgT 0 Silent C 27 GTF2IRD1 SNP 7 C T 73560391 73560391 Broad YWHAG 7532 broad.mit.edu GRCh37 7 75959349 75959350 + missense_variant Missense_Mutation DNP AC AC TT novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000307630.3:c.288_289delinsAA p.Cys97Ser p.C97S ENST00000307630 NM_012479.3 96 gtGTgc/gtAAgc 0 Missense_Mutation AC 6 YWHAG DNP 7 AC TT 75797286 75797285 Broad RNF133 168433 broad.mit.edu GRCh37 7 122338188 122338188 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000340112.2:c.785G>T p.Arg262Leu p.R262L ENST00000340112 NM_139175.1 262 cGc/cTc 0 Missense_Mutation C 27 RNF133 SNP 7 C A 122125424 122125424 Broad CPA5 93979 broad.mit.edu GRCh37 7 130007377 130007377 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000485477.1:c.1003C>T p.Arg335Ter p.R335* ENST00000485477 335 Cga/Tga 0 Nonsense_Mutation C 23 CPA5 SNP 7 C T 129794613 129794613 Broad RAB11FIP1 80223 broad.mit.edu GRCh37 8 37734873 37734873 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000330843.4:c.568T>A p.Ser190Thr p.S190T ENST00000330843 NM_001002814.2 190 Tcc/Acc 0 Missense_Mutation A 11 RAB11FIP1 SNP 8 A T 37854031 37854031 Broad MCMDC2 157777 broad.mit.edu GRCh37 8 67808410 67808410 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000422365.2:c.1285G>T p.Glu429Ter p.E429* ENST00000422365 NM_173518.4 429 Gag/Tag 0 Nonsense_Mutation G 41 C8orf45 SNP 8 G T 67970964 67970964 Broad MTERFD1 51001 broad.mit.edu GRCh37 8 97256229 97256229 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000287025.3:c.977A>T p.Asn326Ile p.N326I ENST00000287025 NM_015942.3 326 aAt/aTt 0 Missense_Mutation T 52 MTERFD1 SNP 8 T A 97325405 97325405 Broad ZNF572 137209 broad.mit.edu GRCh37 8 125989527 125989527 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000319286.5:c.1017T>C p.Arg339= p.R339= ENST00000319286 NM_152412.2 339 cgT/cgC 0 Silent T 57 ZNF572 SNP 8 T C 126058708 126058708 Broad FAM135B 51059 broad.mit.edu GRCh37 8 139144851 139144851 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000395297.1:c.4206C>A p.Leu1402= p.L1402= ENST00000395297 NM_015912.3 1402 ctC/ctA 0 Silent G 45 FAM135B SNP 8 G T 139214033 139214033 Broad VLDLR 7436 broad.mit.edu GRCh37 9 2645614 2645614 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000382100.3:c.1353C>T p.Ile451= p.I451= ENST00000382100 NM_003383.3 451 atC/atT 0 Silent C 29 VLDLR SNP 9 C T 2635614 2635614 Broad JAK2 3717 broad.mit.edu GRCh37 9 5065041 5065041 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000381652.3:c.1214+1G>C p.X405_splice ENST00000381652 NM_004972.3 0 Splice_Site_SNP G 40 JAK2 SNP 9 G C 5055041 5055041 Broad PTPRD 5789 broad.mit.edu GRCh37 9 8485897 8485897 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000356435.5:c.2920C>T p.Pro974Ser p.P974S ENST00000356435 974 Cca/Tca 0 Missense_Mutation G 41 PTPRD SNP 9 G A 8475897 8475897 Broad LINGO2 158038 broad.mit.edu GRCh37 9 27949897 27949897 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000379992.2:c.773A>G p.Asn258Ser p.N258S ENST00000379992 NM_152570.2 258 aAc/aGc 0 Missense_Mutation T 60 LINGO2 SNP 9 T C 27939897 27939897 Broad CNTFR 1271 broad.mit.edu GRCh37 9 34552726 34552726 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000378980.3:c.895G>A p.Ala299Thr p.A299T ENST00000378980 NM_147164.2 299 Gct/Act 0 Missense_Mutation C 27 CNTFR SNP 9 C T 34542726 34542726 Broad SPATA31D1 389763 broad.mit.edu GRCh37 9 84607311 84607311 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000344803.2:c.1926G>T p.Val642= p.V642= ENST00000344803 NM_001001670.2 642 gtG/gtT 0 Silent G 47 FLJ46321 SNP 9 G T 83797131 83797131 Broad OMD 4958 broad.mit.edu GRCh37 9 95177580 95177580 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000375550.4:c.1120C>G p.Gln374Glu p.Q374E ENST00000375550 NM_005014.2 374 Caa/Gaa 0 Missense_Mutation G 48 OMD SNP 9 G C 94217401 94217401 Broad ZDHHC12 84885 broad.mit.edu GRCh37 9 131486308 131486308 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000372663.4:c.65G>A p.Trp22Ter p.W22* ENST00000372663 NM_032799.4 22 tGg/tAg 0 Nonsense_Mutation C 21 ZDHHC12 SNP 9 C T 130526129 130526129 Broad CACFD1 11094 broad.mit.edu GRCh37 9 136333142 136333142 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000540581.1:c.420G>T p.Leu140= p.L140= ENST00000540581 NM_001242369.1 140 ctG/ctT 0 Silent G 47 C9orf7 SNP 9 G T 135322963 135322963 Broad SERPINA7 6906 broad.mit.edu GRCh37 X 105280805 105280805 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000327674.4:c.245T>A p.Phe82Tyr p.F82Y ENST00000327674 82 tTt/tAt 0 Missense_Mutation A 1 SERPINA7 SNP 23 A T 105167461 105167461 Broad SAGE1 55511 broad.mit.edu GRCh37 X 134990687 134990687 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown x x x ENST00000535938.1:c.1352G>A p.Arg451Gln p.R451Q ENST00000535938 NM_018666.2 451 cGa/cAa 0 Missense_Mutation G 37 SAGE1 SNP 23 G A 134818353 134818353 Broad SKIDA1 387640 broad.mit.edu GRCh37 10 21805466 21805467 + inframe_insertion In_Frame_Ins INS - - CCTCCT novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000449193.2:c.1280_1285dupAGGAGG p.Glu427_Glu428dup p.E427_E428dup ENST00000449193 NM_207371.3 429 ggg/gAGGAGGgg 0 In_Frame_Ins - 22 C10orf140 INS 10 CCTCCT - 21845473 21845472 Broad CCDC87 55231 broad.mit.edu GRCh37 11 66358421 66358439 + frameshift_variant Frame_Shift_Del DEL GACCACAGTTGTTCCAGAT GACCACAGTTGTTCCAGAT - novel Unknown TCGA-24-2280-01 TCGA-24-2280-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000333861.3:c.2048_2066del p.His683LeufsTer13 p.H683Lfs*13 ENST00000333861 NM_018219.2 683 cATCTGGAACAACTGTGGTCt/ct 0 Frame_Shift_Del GACCACAGTTGTTCCAGAT 33 CCDC87 DEL 11 - GACCACAGTTGTTCCAGAT 66115015 66114997 Broad ZNF718 255403 genome.wustl.edu GRCh37 4 155370 155370 + non_coding_transcript_exon_variant RNA SNP A A C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000510175.1:n.805A>C *269* ENST00000510175 0 Missense_Mutation A 13 ZNF718 SNP 4 A C 145370 145370 WashU CSF2RA 1438 genome.wustl.edu GRCh37 X 1407745 1407745 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000417535.2:c.437G>A p.Arg146His p.R146H ENST00000417535 NM_001161530.1 146 cGt/cAt 0 Missense_Mutation G 40 CSF2RA SNP 23 G A 1367745 1367745 WashU SSU72P2 genome.wustl.edu GRCh37 11 4263818 4263818 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000537115.1:n.53G>T *18* ENST00000537115 0 Missense_Mutation C 24 ENSG00000186223 SNP 11 C A 4220394 4220394 WashU CAMTA2 23125 genome.wustl.edu GRCh37 17 4886184 4886184 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000414043.3:c.276T>A p.Pro92= p.P92= ENST00000414043 NM_001171167.1 92 ccT/ccA 0 Silent A 11 CAMTA2 SNP 17 A T 4826908 4826908 WashU KCNA5 3741 genome.wustl.edu GRCh37 12 5154498 5154498 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000252321.3:c.1185C>A p.Ser395= p.S395= ENST00000252321 NM_002234.3 395 tcC/tcA 0 Silent C 22 KCNA5 SNP 12 C A 5024759 5024759 WashU ANO2 57101 genome.wustl.edu GRCh37 12 5916479 5916479 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327087.8:c.936C>T p.Asp312= p.D312= ENST00000327087 NM_001278596.1 312 gaC/gaT 0 Silent G 40 ANO2 SNP 12 G A 5786740 5786740 WashU DNHD1 144132 genome.wustl.edu GRCh37 11 6530177 6530177 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000254579.6:c.988G>C p.Gly330Arg p.G330R ENST00000254579 NM_144666.2 330 Ggg/Cgg 0 Missense_Mutation G 47 DNHD1 SNP 11 G C 6486753 6486753 WashU LAMA1 284217 genome.wustl.edu GRCh37 18 6999910 6999910 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000389658.3:c.4469G>A p.Arg1490Lys p.R1490K ENST00000389658 NM_005559.3 1490 aGg/aAg 0 Missense_Mutation C 24 LAMA1 SNP 18 C T 6989910 6989910 WashU LAMA1 284217 genome.wustl.edu GRCh37 18 7015726 7015726 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389658.3:c.3121T>A p.Cys1041Ser p.C1041S ENST00000389658 NM_005559.3 1041 Tgc/Agc 0 Missense_Mutation A 6 LAMA1 SNP 18 A T 7005726 7005726 WashU SENP3 26168 genome.wustl.edu GRCh37 17 7469076 7469076 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000429205.2:c.1258G>A p.Glu420Lys p.E420K ENST00000429205 420 Gaa/Aaa 0 Missense_Mutation G 45 SENP3 SNP 17 G A 7409800 7409800 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578492 7578492 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.438G>A p.Trp146Ter p.W146* ENST00000269305 NM_001126112.2 146 tgG/tgA 0 Nonsense_Mutation C 22 TP53 SNP 17 C T 7519217 7519217 WashU DNAH2 146754 genome.wustl.edu GRCh37 17 7637928 7637928 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000572933.1:c.880C>G p.Gln294Glu p.Q294E ENST00000572933 294 Cag/Gag 0 Missense_Mutation C 25 DNAH2 SNP 17 C G 7578653 7578653 WashU SWAP70 23075 genome.wustl.edu GRCh37 11 9769488 9769488 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318950.6:c.1439C>T p.Ala480Val p.A480V ENST00000318950 NM_015055.2 480 gCg/gTg 0 Missense_Mutation C 27 SWAP70 SNP 11 C T 9726064 9726064 WashU TMEM52B 120939 genome.wustl.edu GRCh37 12 10332225 10332225 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298530.3:c.36C>T p.Ser12= p.S12= ENST00000298530 NM_153022.2 12 tcC/tcT 0 Silent C 24 C12orf59 SNP 12 C T 10223492 10223492 WashU MYH4 4622 genome.wustl.edu GRCh37 17 10350372 10350372 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000255381.2:c.5127G>T p.Glu1709Asp p.E1709D ENST00000255381 NM_017533.2 1709 gaG/gaT 0 Missense_Mutation C 28 MYH4 SNP 17 C A 10291097 10291097 WashU MYH2 4620 genome.wustl.edu GRCh37 17 10428144 10428144 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000245503.5:c.4901A>T p.Gln1634Leu p.Q1634L ENST00000245503 NM_017534.5 1634 cAg/cTg 0 Missense_Mutation T 55 MYH2 SNP 17 T A 10368869 10368869 WashU RP1L1 94137 genome.wustl.edu GRCh37 8 10480641 10480641 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382483.3:c.71C>A p.Thr24Asn p.T24N ENST00000382483 NM_178857.5 24 aCc/aAc 0 Missense_Mutation G 44 RP1L1 SNP 8 G T 10518051 10518051 WashU TARDBP 23435 genome.wustl.edu GRCh37 1 11082452 11082452 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000240185.3:c.986C>T p.Ala329Val p.A329V ENST00000240185 NM_007375.3 329 gCa/gTa 0 Missense_Mutation C 25 TARDBP SNP 1 C T 11005039 11005039 WashU MSL3 10943 genome.wustl.edu GRCh37 X 11781906 11781906 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312196.4:c.757C>T p.Leu253Phe p.L253F ENST00000312196 NM_078629.3 253 Ctt/Ttt 0 Missense_Mutation C 24 MSL3 SNP 23 C T 11691827 11691827 WashU DNAH5 1767 genome.wustl.edu GRCh37 5 13769720 13769720 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265104.4:c.9610A>C p.Asn3204His p.N3204H ENST00000265104 NM_001369.2 3204 Aat/Cat 0 Missense_Mutation T 62 DNAH5 SNP 5 T G 13822720 13822720 WashU FREM1 158326 genome.wustl.edu GRCh37 9 14750192 14750192 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422223.2:c.5490C>G p.Asn1830Lys p.N1830K ENST00000422223 NM_144966.5 1830 aaC/aaG 0 Missense_Mutation G 36 FREM1 SNP 9 G C 14740192 14740192 WashU CAP2 10486 genome.wustl.edu GRCh37 6 17543168 17543168 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000229922.2:c.1103G>T p.Gly368Val p.G368V ENST00000229922 NM_006366.2 368 gGg/gTg 0 Missense_Mutation G 43 CAP2 SNP 6 G T 17651147 17651147 WashU CSRP2BP 57325 genome.wustl.edu GRCh37 20 18142728 18142728 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000435364.3:c.947G>C p.Ser316Thr p.S316T ENST00000435364 NM_020536.4 316 aGc/aCc 0 Missense_Mutation G 34 CSRP2BP SNP 20 G C 18090728 18090728 WashU MAP7D2 256714 genome.wustl.edu GRCh37 X 20028956 20028956 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379643.5:c.2287C>T p.Pro763Ser p.P763S ENST00000379643 NM_001168465.1 763 Cct/Tct 0 Missense_Mutation G 41 MAP7D2 SNP 23 G A 19938877 19938877 WashU DERL3 91319 genome.wustl.edu GRCh37 22 24179304 24179304 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000406855.3:c.561C>T p.Asp187= p.D187= ENST00000406855 NM_198440.3 187 gaC/gaT 0 Silent G 40 DERL3 SNP 22 G A 22509304 22509304 WashU UPB1 51733 genome.wustl.edu GRCh37 22 24909450 24909450 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326010.5:c.618C>T p.Asn206= p.N206= ENST00000326010 NM_016327.2 206 aaC/aaT 0 Silent C 19 UPB1 SNP 22 C T 23239450 23239450 WashU SNRPD3 6634 genome.wustl.edu GRCh37 22 24953654 24953654 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000215829.3:c.12T>C p.Gly4= p.G4= ENST00000215829 NM_001278656.1 4 ggT/ggC 0 Silent T 59 SNRPD3 SNP 22 T C 23283654 23283654 WashU IRF9 10379 genome.wustl.edu GRCh37 14 24632648 24632648 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396864.3:c.426G>T p.Arg142Ser p.R142S ENST00000396864 NM_006084.4 142 agG/agT 0 Missense_Mutation G 41 IRF9 SNP 14 G T 23702488 23702488 WashU CDH10 1008 genome.wustl.edu GRCh37 5 24593441 24593441 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264463.4:c.159A>T p.Lys53Asn p.K53N ENST00000264463 NM_006727.3 53 aaA/aaT 0 Missense_Mutation T 60 CDH10 SNP 5 T A 24629198 24629198 WashU LDLRAP1 26119 genome.wustl.edu GRCh37 1 25880417 25880417 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374338.4:c.93G>T p.Leu31= p.L31= ENST00000374338 NM_015627.2 31 ctG/ctT 0 Silent G 46 LDLRAP1 SNP 1 G T 25753004 25753004 WashU HIST1H2BI 8346 genome.wustl.edu GRCh37 6 26273279 26273279 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000377733.2:c.76G>T p.Asp26Tyr p.D26Y ENST00000377733 NM_003525.2 26 Gat/Tat 0 Missense_Mutation G 41 HIST1H2BI SNP 6 G T 26381258 26381258 WashU DEFB115 245929 genome.wustl.edu GRCh37 20 29845473 29845473 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400552.1:c.7C>A p.Pro3Thr p.P3T ENST00000400552 NM_001037730.1 3 Cca/Aca 0 Missense_Mutation C 26 DEFB115 SNP 20 C A 29309134 29309134 WashU HCK 3055 genome.wustl.edu GRCh37 20 30681801 30681801 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375852.2:c.1228G>A p.Glu410Lys p.E410K ENST00000375852 410 Gag/Aag 0 Missense_Mutation G 37 HCK SNP 20 G A 30145462 30145462 WashU TEX26 122046 genome.wustl.edu GRCh37 13 31526879 31526879 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380473.3:c.229A>C p.Thr77Pro p.T77P ENST00000380473 NM_152325.1 77 Act/Cct 0 Missense_Mutation A 6 C13orf26 SNP 13 A C 30424879 30424879 WashU DTNA 1837 genome.wustl.edu GRCh37 18 32398247 32398247 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000598334.1:c.829G>C p.Gly277Arg p.G277R ENST00000598334 NM_001198938.1 277 Ggt/Cgt 0 Missense_Mutation G 39 DTNA SNP 18 G C 30652245 30652245 WashU BPIFB3 359710 genome.wustl.edu GRCh37 20 31647277 31647277 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375494.3:c.375G>A p.Met125Ile p.M125I ENST00000375494 NM_182658.1 125 atG/atA 0 Missense_Mutation G 46 C20orf185 SNP 20 G A 31110938 31110938 WashU BPIFB3 359710 genome.wustl.edu GRCh37 20 31656714 31656714 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375494.3:c.1084G>A p.Ala362Thr p.A362T ENST00000375494 NM_182658.1 362 Gcc/Acc 0 Missense_Mutation G 34 C20orf185 SNP 20 G A 31120375 31120375 WashU HCRTR1 3061 genome.wustl.edu GRCh37 1 32085249 32085249 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000403528.2:c.316G>T p.Val106Leu p.V106L ENST00000403528 NM_001525.2 106 Gtg/Ttg 0 Missense_Mutation G 44 HCRTR1 SNP 1 G T 31857836 31857836 WashU NOL6 65083 genome.wustl.edu GRCh37 9 33466931 33466931 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297990.4:c.1929A>G p.Ala643= p.A643= ENST00000297990 NM_022917.4 643 gcA/gcG 0 Silent T 59 NOL6 SNP 9 T C 33456931 33456931 WashU GRM4 2914 genome.wustl.edu GRCh37 6 33996116 33996116 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000538487.2:c.2470G>T p.Val824Phe p.V824F ENST00000538487 NM_000841.2 824 Gtc/Ttc 0 Missense_Mutation C 18 GRM4 SNP 6 C A 34104094 34104094 WashU AGXT2 64902 genome.wustl.edu GRCh37 5 35047956 35047956 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000231420.6:c.42G>C p.Leu14= p.L14= ENST00000231420 NM_031900.3 14 ctG/ctC 0 Silent C 21 AGXT2 SNP 5 C G 35083713 35083713 WashU UNC5D 137970 genome.wustl.edu GRCh37 8 35541228 35541228 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000404895.2:c.734C>A p.Ala245Asp p.A245D ENST00000404895 NM_080872.2 245 gCc/gAc 0 Missense_Mutation C 26 UNC5D SNP 8 C A 35660770 35660770 WashU IL7R 3575 genome.wustl.edu GRCh37 5 35876436 35876436 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303115.3:c.1228A>G p.Thr410Ala p.T410A ENST00000303115 NM_002185.3 410 Act/Gct 0 Missense_Mutation A 10 IL7R SNP 5 A G 35912193 35912193 WashU BPI 671 genome.wustl.edu GRCh37 20 36932679 36932679 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262865.4:c.66C>T p.Val22= p.V22= ENST00000262865 NM_001725.2 22 gtC/gtT 0 Silent C 31 BPI SNP 20 C T 36366093 36366093 WashU HHATL 57467 genome.wustl.edu GRCh37 3 42734256 42734256 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000441594.1:c.1502A>G p.Glu501Gly p.E501G ENST00000441594 NM_020707.3 501 gAg/gGg 0 Missense_Mutation T 54 HHATL SNP 3 T C 42709260 42709260 WashU PEX6 5190 genome.wustl.edu GRCh37 6 42934267 42934267 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304611.8:c.2090C>T p.Pro697Leu p.P697L ENST00000304611 NM_000287.3 697 cCc/cTc 0 Missense_Mutation G 43 PEX6 SNP 6 G A 43042245 43042245 WashU PPIAP35 128192 genome.wustl.edu GRCh37 1 45454127 45454127 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000411837.1:n.271C>T *91* ENST00000411837 0 Missense_Mutation G 46 LOC128192 SNP 1 G A 45226714 45226714 WashU OR10AD1 121275 genome.wustl.edu GRCh37 12 48596656 48596656 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310248.2:c.420G>C p.Lys140Asn p.K140N ENST00000310248 NM_001004134.1 140 aaG/aaC 0 Missense_Mutation C 24 OR10AD1 SNP 12 C G 46882923 46882923 WashU STAU1 6780 genome.wustl.edu GRCh37 20 47752392 47752392 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371856.2:c.587G>A p.Arg196Gln p.R196Q ENST00000371856 NM_017453.2 196 cGg/cAg 0 Missense_Mutation C 23 STAU1 SNP 20 C T 47185799 47185799 WashU SLC5A9 200010 genome.wustl.edu GRCh37 1 48705048 48705048 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000236495.5:c.1591C>T p.Leu531= p.L531= ENST00000236495 NM_001135181.1 531 Ctg/Ttg 0 Silent C 24 SLC5A9 SNP 1 C T 48477635 48477635 WashU TRIM13 10206 genome.wustl.edu GRCh37 13 50587277 50587277 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356017.4:c.1210G>T p.Val404Leu p.V404L ENST00000356017 404 Gtg/Ttg 0 Missense_Mutation G 48 TRIM13 SNP 13 G T 49485278 49485278 WashU BCL3 602 genome.wustl.edu GRCh37 19 45259535 45259535 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000164227.5:c.457C>T p.Arg153Trp p.R153W ENST00000164227 NM_005178.4 153 Cgg/Tgg 0 Missense_Mutation C 23 BCL3 SNP 19 C T 49951375 49951375 WashU RBM6 10180 genome.wustl.edu GRCh37 3 50005087 50005087 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000266022.4:c.229G>T p.Ala77Ser p.A77S ENST00000266022 NM_005777.2 77 Gct/Tct 0 Missense_Mutation G 34 RBM6 SNP 3 G T 49980091 49980091 WashU CCNB3 85417 genome.wustl.edu GRCh37 X 50053209 50053209 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376042.1:c.2040T>A p.Val680= p.V680= ENST00000376042 680 gtT/gtA 0 Silent T 61 CCNB3 SNP 23 T A 50069949 50069949 WashU GNAI2 2771 genome.wustl.edu GRCh37 3 50290492 50290492 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313601.6:c.340G>A p.Ala114Thr p.A114T ENST00000313601 NM_002070.2 114 Gcc/Acc 0 Missense_Mutation G 38 GNAI2 SNP 3 G A 50265496 50265496 WashU PARG 8505 genome.wustl.edu GRCh37 10 51087745 51087745 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000402038.3:c.507T>C p.Ser169= p.S169= ENST00000402038 NM_003631.2 169 tcT/tcC 0 Silent A 15 PARG SNP 10 A G 50757751 50757751 WashU TSHZ2 128553 genome.wustl.edu GRCh37 20 51871911 51871911 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371497.5:c.1914A>C p.Glu638Asp p.E638D ENST00000371497 NM_173485.5 638 gaA/gaC 0 Missense_Mutation A 1 TSHZ2 SNP 20 A C 51305318 51305318 WashU CCDC8 83987 genome.wustl.edu GRCh37 19 46915879 46915879 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307522.3:c.189C>T p.Thr63= p.T63= ENST00000307522 NM_032040.4 63 acC/acT 0 Silent G 43 CCDC8 SNP 19 G A 51607719 51607719 WashU UNC13C 440279 genome.wustl.edu GRCh37 15 54307266 54307266 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260323.11:c.2166A>C p.Pro722= p.P722= ENST00000260323 NM_001080534.1 722 ccA/ccC 0 Silent A 8 UNC13C SNP 15 A C 52094558 52094558 WashU SULT2A1 6822 genome.wustl.edu GRCh37 19 48386926 48386926 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000222002.3:c.253A>G p.Thr85Ala p.T85A ENST00000222002 NM_003167.3 85 Aca/Gca 0 Missense_Mutation T 57 SULT2A1 SNP 19 T C 53078738 53078738 WashU HUWE1 10075 genome.wustl.edu GRCh37 X 53577911 53577911 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342160.3:c.9336G>C p.Leu3112= p.L3112= ENST00000342160 3112 ctG/ctC 0 Silent C 17 HUWE1 SNP 23 C G 53594636 53594636 WashU RB1CC1 9821 genome.wustl.edu GRCh37 8 53570342 53570342 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000025008.5:c.2047G>A p.Ala683Thr p.A683T ENST00000025008 NM_014781.4 683 Gca/Aca 0 Missense_Mutation C 25 RB1CC1 SNP 8 C T 53732895 53732895 WashU ERLEC1 27248 genome.wustl.edu GRCh37 2 54028849 54028849 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000185150.4:c.750-1G>A p.X250_splice ENST00000185150 NM_015701.4 0 Splice_Site_SNP G 35 ERLEC1 SNP 2 G A 53882353 53882353 WashU SCFD2 152579 genome.wustl.edu GRCh37 4 54231639 54231639 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000401642.3:c.470C>T p.Pro157Leu p.P157L ENST00000401642 NM_152540.3 157 cCg/cTg 0 Missense_Mutation G 39 SCFD2 SNP 4 G A 53926396 53926396 WashU CDCP2 200008 genome.wustl.edu GRCh37 1 54605743 54605743 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371330.1:c.800A>T p.Asn267Ile p.N267I ENST00000371330 NM_201546.3 267 aAc/aTc 0 Missense_Mutation T 60 CDCP2 SNP 1 T A 54378331 54378331 WashU FGD1 2245 genome.wustl.edu GRCh37 X 54472706 54472706 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375135.3:c.2722C>G p.Leu908Val p.L908V ENST00000375135 NM_004463.2 908 Cta/Gta 0 Missense_Mutation G 36 FGD1 SNP 23 G C 54489431 54489431 WashU SLC6A16 28968 genome.wustl.edu GRCh37 19 49812592 49812592 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335875.4:c.953C>T p.Ala318Val p.A318V ENST00000335875 NM_014037.2 318 gCa/gTa 0 Missense_Mutation G 46 SLC6A16 SNP 19 G A 54504404 54504404 WashU HCRTR2 3062 genome.wustl.edu GRCh37 6 55120146 55120146 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370862.3:c.615C>A p.Thr205= p.T205= ENST00000370862 NM_001526.3 205 acC/acA 0 Silent C 22 HCRTR2 SNP 6 C A 55228105 55228105 WashU DST 667 genome.wustl.edu GRCh37 6 56357225 56357225 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244364.6:c.12688G>A p.Ala4230Thr p.A4230T ENST00000244364 NM_015548.4 4230 Gcc/Acc 0 Missense_Mutation C 25 DST SNP 6 C T 56465184 56465184 WashU HAS1 3036 genome.wustl.edu GRCh37 19 52219569 52219569 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000222115.1:c.1001G>A p.Cys334Tyr p.C334Y ENST00000222115 NM_001523.2 334 tGt/tAt 0 Missense_Mutation C 17 HAS1 SNP 19 C T 56911381 56911381 WashU SDR16C5 195814 genome.wustl.edu GRCh37 8 57228783 57228783 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303749.3:c.124A>C p.Ile42Leu p.I42L ENST00000303749 NM_138969.2 42 Ata/Cta 0 Missense_Mutation T 52 SDR16C5 SNP 8 T G 57391337 57391337 WashU FAM111B 374393 genome.wustl.edu GRCh37 11 58892562 58892562 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343597.3:c.992G>A p.Ser331Asn p.S331N ENST00000343597 NM_198947.3 331 aGc/aAc 0 Missense_Mutation G 34 FAM111B SNP 11 G A 58649138 58649138 WashU MS4A1 931 genome.wustl.edu GRCh37 11 60230495 60230495 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000534668.1:c.180G>T p.Gly60= p.G60= ENST00000534668 NM_152866.2 60 ggG/ggT 0 Silent G 42 MS4A1 SNP 11 G T 59987071 59987071 WashU CYP2J2 1573 genome.wustl.edu GRCh37 1 60359363 60359363 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371204.3:c.1469C>A p.Ser490Tyr p.S490Y ENST00000371204 NM_000775.2 490 tCc/tAc 0 Missense_Mutation G 41 CYP2J2 SNP 1 G T 60131951 60131951 WashU LPHN3 23284 genome.wustl.edu GRCh37 4 62800625 62800625 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000514591.1:c.1976C>G p.Thr659Arg p.T659R ENST00000514591 659 aCg/aGg 0 Missense_Mutation C 19 LPHN3 SNP 4 C G 62483220 62483220 WashU KANK4 163782 genome.wustl.edu GRCh37 1 62737155 62737155 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371153.4:c.2007C>T p.Asn669= p.N669= ENST00000371153 NM_181712.4 669 aaC/aaT 0 Silent G 40 KANK4 SNP 1 G A 62509743 62509743 WashU ARID5B 84159 genome.wustl.edu GRCh37 10 63816939 63816939 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000279873.7:c.910T>G p.Ser304Ala p.S304A ENST00000279873 NM_032199.2 304 Tca/Gca 0 Missense_Mutation T 54 ARID5B SNP 10 T G 63486945 63486945 WashU SREK1IP1 285672 genome.wustl.edu GRCh37 5 64036949 64036949 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000513458.4:c.140C>G p.Thr47Arg p.T47R ENST00000513458 NM_173829.3 47 aCa/aGa 0 Missense_Mutation G 48 SFRS12IP1 SNP 5 G C 64072705 64072705 WashU RAB15 376267 genome.wustl.edu GRCh37 14 65417081 65417081 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000267512.5:c.507G>T p.Arg169Ser p.R169S ENST00000267512 NM_198686.2 169 agG/agT 0 Missense_Mutation C 30 RAB15 SNP 14 C A 64486834 64486834 WashU KCNQ5 56479 genome.wustl.edu GRCh37 6 73904330 73904330 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342056.2:c.2049A>T p.Lys683Asn p.K683N ENST00000342056 NM_001160132.1 683 aaA/aaT 0 Missense_Mutation A 3 KCNQ5 SNP 6 A T 73961051 73961051 WashU CD109 135228 genome.wustl.edu GRCh37 6 74517952 74517952 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287097.5:c.3336T>G p.Thr1112= p.T1112= ENST00000287097 1112 acT/acG 0 Silent T 56 CD109 SNP 6 T G 74574673 74574673 WashU ALDH1A1 216 genome.wustl.edu GRCh37 9 75526946 75526946 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297785.3:c.1128G>A p.Gly376= p.G376= ENST00000297785 NM_000689.4 376 ggG/ggA 0 Silent C 30 ALDH1A1 SNP 9 C T 74716766 74716766 WashU ENPP7 339221 genome.wustl.edu GRCh37 17 77705007 77705007 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328313.5:c.106G>C p.Val36Leu p.V36L ENST00000328313 NM_178543.3 36 Gtg/Ctg 0 Missense_Mutation G 44 ENPP7 SNP 17 G C 75319602 75319602 WashU PARM1 25849 genome.wustl.edu GRCh37 4 75937901 75937901 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307428.7:c.310C>G p.Pro104Ala p.P104A ENST00000307428 NM_015393.3 104 Ccc/Gcc 0 Missense_Mutation C 22 PARM1 SNP 4 C G 76156925 76156925 WashU CLN5 1203 genome.wustl.edu GRCh37 13 77570168 77570168 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377453.3:c.618C>T p.Phe206= p.F206= ENST00000377453 NM_006493.2 206 ttC/ttT 0 Silent C 32 CLN5 SNP 13 C T 76468169 76468169 WashU MYCBP2 23077 genome.wustl.edu GRCh37 13 77798611 77798611 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000544440.2:c.2800C>G p.Leu934Val p.L934V ENST00000544440 934 Cta/Gta 0 Missense_Mutation G 34 MYCBP2 SNP 13 G C 76696612 76696612 WashU ADRA2B 151 genome.wustl.edu GRCh37 2 96781427 96781427 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409345.3:c.462G>T p.Gln154His p.Q154H ENST00000409345 NM_000682.5 154 caG/caT 0 Missense_Mutation C 24 ADRA2B SNP 2 C A 96145154 96145154 WashU MRPL30 51263 genome.wustl.edu GRCh37 2 99812084 99812084 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338148.3:c.402G>T p.Met134Ile p.M134I ENST00000338148 NM_145212.3 134 atG/atT 0 Missense_Mutation G 48 MRPL30 SNP 2 G T 99178516 99178516 WashU SLC17A8 246213 genome.wustl.edu GRCh37 12 100813902 100813902 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000323346.5:c.1735C>A p.Gln579Lys p.Q579K ENST00000323346 NM_001145288.1 579 Cag/Aag 0 Missense_Mutation C 21 SLC17A8 SNP 12 C A 99338033 99338033 WashU LPPR4 9890 genome.wustl.edu GRCh37 1 99764580 99764580 + intron_variant Intron SNP T T A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370185.3:c.539-11T>A *180* ENST00000370185 NM_014839.4 0 Silent T 64 uc001dse.1 SNP 1 T A 99537168 99537168 WashU AFF3 3899 genome.wustl.edu GRCh37 2 100175346 100175346 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356421.2:c.3351C>T p.Asp1117= p.D1117= ENST00000356421 NM_001025108.1 1117 gaC/gaT 0 Silent G 36 AFF3 SNP 2 G A 99541778 99541778 WashU DCBLD2 131566 genome.wustl.edu GRCh37 3 98568343 98568343 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326840.6:c.533G>T p.Arg178Leu p.R178L ENST00000326840 NM_080927.3 178 cGc/cTc 0 Missense_Mutation C 27 DCBLD2 SNP 3 C A 100051033 100051033 WashU ZAN 7455 genome.wustl.edu GRCh37 7 100352980 100352980 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000546292.1:c.3256C>A p.His1086Asn p.H1086N ENST00000546292 NM_173059.1 1086 Cac/Aac 0 Missense_Mutation C 21 ZAN SNP 7 C A 100190916 100190916 WashU MUC17 140453 genome.wustl.edu GRCh37 7 100681591 100681591 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306151.4:c.6894C>A p.Thr2298= p.T2298= ENST00000306151 NM_001040105.1 2298 acC/acA 0 Silent C 22 MUC17 SNP 7 C A 100468311 100468311 WashU VPS13B 157680 genome.wustl.edu GRCh37 8 100479763 100479763 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358544.2:c.3567T>A p.Ser1189= p.S1189= ENST00000358544 NM_017890.4 1189 tcT/tcA 0 Silent T 54 VPS13B SNP 8 T A 100548939 100548939 WashU BHLHB9 80823 genome.wustl.edu GRCh37 X 102004101 102004101 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372735.1:c.178G>A p.Ala60Thr p.A60T ENST00000372735 60 Gca/Aca 0 Missense_Mutation G 42 BHLHB9 SNP 23 G A 101890757 101890757 WashU ERCC5 2073 genome.wustl.edu GRCh37 13 103528187 103528187 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355739.4:c.3495C>T p.Ala1165= p.A1165= ENST00000355739 NM_000123.3 1165 gcC/gcT 0 Silent C 21 ERCC5 SNP 13 C T 102326188 102326188 WashU ODF1 4956 genome.wustl.edu GRCh37 8 103563969 103563969 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000285402.3:c.14G>C p.Ser5Thr p.S5T ENST00000285402 NM_024410.3 5 aGt/aCt 0 Missense_Mutation G 36 ODF1 SNP 8 G C 103633145 103633145 WashU ARHGAP20 57569 genome.wustl.edu GRCh37 11 110453112 110453112 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A T A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260283.4:c.1653T>A p.Phe551Leu p.F551L ENST00000260283 NM_020809.3 551 ttT/ttA 0 Missense_Mutation A 5 ARHGAP20 SNP 11 A T 109958322 109958322 WashU ALDH2 217 genome.wustl.edu GRCh37 12 112228252 112228252 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261733.2:c.567C>G p.Leu189= p.L189= ENST00000261733 NM_000690.3 189 ctC/ctG 0 Silent C 30 ALDH2 SNP 12 C G 110712635 110712635 WashU KCNA3 3738 genome.wustl.edu GRCh37 1 111216030 111216030 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369769.2:c.1402G>A p.Gly468Ser p.G468S ENST00000369769 NM_002232.3 468 Ggt/Agt 0 Missense_Mutation C 23 KCNA3 SNP 1 C T 111017553 111017553 WashU HSPB2 3316 genome.wustl.edu GRCh37 11 111784461 111784461 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304298.3:c.391C>A p.Arg131= p.R131= ENST00000304298 NM_001541.3 131 Cga/Aga 0 Silent C 27 HSPB2 SNP 11 C A 111289671 111289671 WashU LRIF1 55791 genome.wustl.edu GRCh37 1 111494210 111494210 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369763.4:c.1296C>G p.Thr432= p.T432= ENST00000369763 NM_018372.3 432 acC/acG 0 Silent G 43 C1orf103 SNP 1 G C 111295733 111295733 WashU ANK2 287 genome.wustl.edu GRCh37 4 114214596 114214596 + missense_variant,splice_region_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357077.4:c.2377A>T p.Asn793Tyr p.N793Y ENST00000357077 NM_001148.4 793 Aat/Tat 0 Missense_Mutation A 9 ANK2 SNP 4 A T 114434045 114434045 WashU KMT2A 4297 genome.wustl.edu GRCh37 11 118363844 118363844 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000534358.1:c.5077G>C p.Asp1693His p.D1693H ENST00000534358 NM_005933.3 1693 Gat/Cat 0 Missense_Mutation G 45 MLL SNP 11 G C 117869054 117869054 WashU VPS11 55823 genome.wustl.edu GRCh37 11 118948712 118948712 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300793.6:c.1694G>A p.Gly565Glu p.G565E ENST00000300793 NM_021729.4 565 gGa/gAa 0 Missense_Mutation G 41 VPS11 SNP 11 G A 118453922 118453922 WashU MCMBP 79892 genome.wustl.edu GRCh37 10 121619381 121619381 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360003.3:c.74A>T p.Asn25Ile p.N25I ENST00000360003 NM_001256378.1 25 aAt/aTt 0 Missense_Mutation T 52 C10orf119 SNP 10 T A 121609371 121609371 WashU OR4D5 219875 genome.wustl.edu GRCh37 11 123811042 123811042 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307033.2:c.719G>C p.Cys240Ser p.C240S ENST00000307033 NM_001001965.1 240 tGt/tCt 0 Missense_Mutation G 48 OR4D5 SNP 11 G C 123316252 123316252 WashU RABGAP1 23637 genome.wustl.edu GRCh37 9 125751633 125751633 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373647.4:c.648C>T p.Leu216= p.L216= ENST00000373647 NM_012197.3 216 ctC/ctT 0 Silent C 32 RABGAP1 SNP 9 C T 124791454 124791454 WashU FBN2 2201 genome.wustl.edu GRCh37 5 127670890 127670890 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000508053.1:c.3945G>A p.Met1315Ile p.M1315I ENST00000508053 1315 atG/atA 0 Missense_Mutation C 21 FBN2 SNP 5 C T 127698789 127698789 WashU TMEM209 84928 genome.wustl.edu GRCh37 7 129815423 129815423 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397622.2:c.1273T>A p.Ser425Thr p.S425T ENST00000397622 NM_032842.3 425 Tca/Aca 0 Missense_Mutation A 11 TMEM209 SNP 7 A T 129602659 129602659 WashU C7orf49 78996 genome.wustl.edu GRCh37 7 134851584 134851584 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393114.3:c.253G>T p.Ala85Ser p.A85S ENST00000393114 85 Gcg/Tcg 0 Missense_Mutation C 26 C7orf49 SNP 7 C A 134502124 134502124 WashU BRS3 680 genome.wustl.edu GRCh37 X 135572549 135572549 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370648.3:c.692C>G p.Ser231Cys p.S231C ENST00000370648 NM_001727.1 231 tCt/tGt 0 Missense_Mutation C 32 BRS3 SNP 23 C G 135400215 135400215 WashU COL22A1 169044 genome.wustl.edu GRCh37 8 139737661 139737661 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303045.6:c.2162T>C p.Val721Ala p.V721A ENST00000303045 NM_152888.1 721 gTc/gCc 0 Missense_Mutation A 10 COL22A1 SNP 8 A G 139806843 139806843 WashU ZBTB38 253461 genome.wustl.edu GRCh37 3 141163185 141163185 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000514251.1:c.1955G>A p.Gly652Asp p.G652D ENST00000514251 652 gGt/gAt 0 Missense_Mutation G 44 ZBTB38 SNP 3 G A 142645875 142645875 WashU PABPC1P2 728773 genome.wustl.edu GRCh37 2 147346101 147346101 + non_coding_transcript_exon_variant RNA SNP A A C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000471997.1:n.1028A>C *343* ENST00000471997 0 Missense_Mutation A 15 PABPC1P2 SNP 2 A C 147062571 147062571 WashU HIST2H2BE 8349 genome.wustl.edu GRCh37 1 149857962 149857962 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369155.2:c.229G>C p.Glu77Gln p.E77Q ENST00000369155 NM_003528.2 77 Gag/Cag 0 Missense_Mutation C 32 HIST2H2BE SNP 1 C G 148124586 148124586 WashU PRMT10 90826 genome.wustl.edu GRCh37 4 148594893 148594893 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322396.6:c.471T>A p.Leu157= p.L157= ENST00000322396 NM_138364.2 157 ctT/ctA 0 Silent A 13 LOC90826 SNP 4 A T 148814343 148814343 WashU TIGD6 81789 genome.wustl.edu GRCh37 5 149374598 149374598 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296736.3:c.1314C>T p.Asp438= p.D438= ENST00000296736 NM_030953.3 438 gaC/gaT 0 Silent G 48 TIGD6 SNP 5 G A 149354791 149354791 WashU MAGEA1 4100 genome.wustl.edu GRCh37 X 152482178 152482178 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356661.5:c.833A>T p.Lys278Ile p.K278I ENST00000356661 NM_004988.4 278 aAa/aTa 0 Missense_Mutation T 64 MAGEA1 SNP 23 T A 152135372 152135372 WashU DNAJB6 10049 genome.wustl.edu GRCh37 7 157178309 157178309 + splice_region_variant,intron_variant Splice_Region SNP A A T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262177.4:c.691+4A>T p.X231_splice ENST00000262177 NM_058246.3 0 Missense_Mutation A 3 DNAJB6 SNP 7 A T 156871070 156871070 WashU OR10J3 441911 genome.wustl.edu GRCh37 1 159283647 159283647 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332217.5:c.803C>T p.Ser268Phe p.S268F ENST00000332217 NM_001004467.1 268 tCc/tTc 0 Missense_Mutation G 41 OR10J3 SNP 1 G A 157550271 157550271 WashU APCS 325 genome.wustl.edu GRCh37 1 159558179 159558179 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000255040.2:c.353A>T p.Glu118Val p.E118V ENST00000255040 NM_001639.3 118 gAg/gTg 0 Missense_Mutation A 11 APCS SNP 1 A T 157824803 157824803 WashU GRB14 2888 genome.wustl.edu GRCh37 2 165349680 165349680 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263915.3:c.1489G>T p.Gly497Cys p.G497C ENST00000263915 NM_004490.2 497 Ggt/Tgt 0 Missense_Mutation C 23 GRB14 SNP 2 C A 165057926 165057926 WashU MPZL1 9019 genome.wustl.edu GRCh37 1 167742563 167742563 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359523.2:c.563C>G p.Ala188Gly p.A188G ENST00000359523 NM_024569.4 188 gCt/gGt 0 Missense_Mutation C 28 MPZL1 SNP 1 C G 166009187 166009187 WashU FAM20B 9917 genome.wustl.edu GRCh37 1 179013242 179013242 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263733.4:c.260T>G p.Val87Gly p.V87G ENST00000263733 NM_014864.3 87 gTc/gGc 0 Missense_Mutation T 58 FAM20B SNP 1 T G 177279865 177279865 WashU TTN 7273 genome.wustl.edu GRCh37 2 179407087 179407087 + missense_variant Missense_Mutation SNP C C T rs55915651 Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.97396G>A p.Glu32466Lys p.E32466K ENST00000589042 NM_001267550.1 32466 Gaa/Aaa 0 Missense_Mutation C 31 TTN SNP 2 C T 179115333 179115333 WashU MAML1 9794 genome.wustl.edu GRCh37 5 179192580 179192580 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000292599.3:c.569G>A p.Arg190His p.R190H ENST00000292599 NM_014757.4 190 cGt/cAt 0 Missense_Mutation G 40 MAML1 SNP 5 G A 179125186 179125186 WashU TTN 7273 genome.wustl.edu GRCh37 2 179664223 179664223 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000589042.1:c.905C>A p.Ser302Tyr p.S302Y ENST00000589042 NM_001267550.1 302 tCt/tAt 0 Missense_Mutation G 33 TTN SNP 2 G T 179372468 179372468 WashU DHX9 1660 genome.wustl.edu GRCh37 1 182845604 182845604 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367549.3:c.2052A>G p.Leu684= p.L684= ENST00000367549 NM_001357.4 684 ctA/ctG 0 Silent A 14 DHX9 SNP 1 A G 181112227 181112227 WashU RGL1 23179 genome.wustl.edu GRCh37 1 183881302 183881302 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304685.4:c.1754G>C p.Ser585Thr p.S585T ENST00000304685 NM_015149.3 585 aGc/aCc 0 Missense_Mutation G 34 RGL1 SNP 1 G C 182147925 182147925 WashU RP11-162O12.2 genome.wustl.edu GRCh37 4 185220684 185220684 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000430005.2:n.117C>G *39* ENST00000430005 0 Missense_Mutation G 48 LOC391722 SNP 4 G C 185457678 185457678 WashU RYR2 6262 genome.wustl.edu GRCh37 1 237880635 237880635 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366574.2:c.10461G>C p.Glu3487Asp p.E3487D ENST00000366574 NM_001035.2 3487 gaG/gaC 0 Missense_Mutation G 34 RYR2 SNP 1 G C 235947258 235947258 WashU COL6A3 1293 genome.wustl.edu GRCh37 2 238274597 238274597 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000295550.4:c.5582A>T p.Lys1861Met p.K1861M ENST00000295550 NM_004369.3 1861 aAg/aTg 0 Missense_Mutation T 56 COL6A3 SNP 2 T A 237939336 237939336 WashU KIF26B 55083 genome.wustl.edu GRCh37 1 245704225 245704225 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000407071.2:c.1323G>C p.Lys441Asn p.K441N ENST00000407071 NM_018012.3 441 aaG/aaC 0 Missense_Mutation G 35 KIF26B SNP 1 G C 243770848 243770848 WashU OR14K1 343170 genome.wustl.edu GRCh37 1 247902812 247902812 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000283225.2:c.896T>C p.Leu299Pro p.L299P ENST00000283225 299 cTg/cCg 0 Missense_Mutation T 55 OR14K1 SNP 1 T C 245969435 245969435 WashU BRCA2 675 genome.wustl.edu GRCh37 13 32912708 32912711 + frameshift_variant Frame_Shift_Del DEL AAAG AAAG - novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 AAAG AAAG AAAG - AAAG AAAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380152.3:c.4218_4221del p.Lys1406AsnfsTer3 p.K1406Nfs*3 ENST00000380152 1406 AAAGaa/aa 0 Frame_Shift_Del AAAG 13 BRCA2 DEL 13 AAAG - 31810711 31810708 WashU LAIR1 3903 genome.wustl.edu GRCh37 19 54867969 54867974 + inframe_deletion In_Frame_Del DEL GCTGTG GCTGTG - novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 GCTGTG GCTGTG GCTGTG - GCTGTG GCTGTG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000391742.2:c.617_622del p.Pro206_Gln207del p.P206_Q207del ENST00000391742 206 cCACAGCag/cag 0 In_Frame_Del GCTGTG 46 LAIR1 DEL 19 GCTGTG - 59559786 59559781 WashU ADAMTS9 56999 genome.wustl.edu GRCh37 3 64606856 64606856 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T G T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000498707.1:c.2747A>C p.Gln916Pro p.Q916P ENST00000498707 NM_182920.1 916 cAa/cCa 0 Missense_Mutation T 63 ADAMTS9 SNP 3 G T 64581896 64581896 WashU PIP4K2A 5305 genome.wustl.edu GRCh37 10 22826149 22826149 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000376573.4:c.1202T>A p.Ile401Asn p.I401N ENST00000376573 NM_005028.4 401 aTt/aAt 0 Missense_Mutation A 4 PIP4K2A SNP 10 A T 22866155 22866155 WashU BRCA2 675 genome.wustl.edu GRCh37 13 32912710 32912714 + frameshift_variant Frame_Shift_Del DEL AGAAC AGAAC - novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 Unknown Valid Somatic Phase_III Capture 3730_PCR_WGA dbGAP Illumina GAIIx ENST00000380152.3:c.4220_4224del p.Glu1407ValfsTer5 p.E1407Vfs*5 ENST00000380152 1406 aaAGAACag/aaag 0 Frame_Shift_Del AGAA 3 BRCA2 DEL 13 AGAA - 31810714 31810710 WashU NES 10763 genome.wustl.edu GRCh37 1 156639556 156639556 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000368223.3:c.4424G>A p.Gly1475Asp p.G1475D ENST00000368223 NM_006617.1 1475 gGt/gAt 0 Missense_Mutation C 18 NES SNP 1 C T 154906180 154906180 WashU ASTN1 460 genome.wustl.edu GRCh37 1 177001899 177001899 + synonymous_variant Silent SNP G G C Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000361833.2:c.558C>G p.Val186= p.V186= ENST00000361833 186 gtC/gtG 0 Silent G 41 ASTN1 SNP 1 G C 175268522 175268522 WashU SWT1 54823 genome.wustl.edu GRCh37 1 185143927 185143927 + synonymous_variant Silent SNP C C T Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000367500.4:c.648C>T p.Asn216= p.N216= ENST00000367500 NM_017673.6 216 aaC/aaT 0 Silent C 20 C1orf26 SNP 1 C T 183410550 183410550 WashU HMCN1 83872 genome.wustl.edu GRCh37 1 185892578 185892578 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000271588.4:c.1078G>A p.Asp360Asn p.D360N ENST00000271588 NM_031935.2 360 Gat/Aat 0 Missense_Mutation G 33 HMCN1 SNP 1 G A 184159201 184159201 WashU AVPR1B 553 genome.wustl.edu GRCh37 1 206225003 206225003 + missense_variant Missense_Mutation SNP C C A Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000367126.4:c.563C>A p.Ala188Glu p.A188E ENST00000367126 NM_000707.3 188 gCa/gAa 0 Missense_Mutation C 25 AVPR1B SNP 1 C A 204391626 204391626 WashU RYR2 6262 genome.wustl.edu GRCh37 1 237656263 237656263 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000366574.2:c.1837G>A p.Val613Ile p.V613I ENST00000366574 NM_001035.2 613 Gtc/Atc 0 Missense_Mutation G 48 RYR2 SNP 1 G A 235722886 235722886 WashU FSHB 2488 genome.wustl.edu GRCh37 11 30255171 30255171 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000417547.1:c.214A>G p.Lys72Glu p.K72E ENST00000417547 NM_001018080.1 72 Aag/Gag 0 Missense_Mutation A 5 FSHB SNP 11 A G 30211747 30211747 WashU OR5T1 390155 genome.wustl.edu GRCh37 11 56043751 56043751 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313033.2:c.637T>C p.Tyr213His p.Y213H ENST00000313033 NM_001004745.1 213 Tac/Cac 0 Missense_Mutation T 53 OR5T1 SNP 11 T C 55800327 55800327 WashU ROM1 6094 genome.wustl.edu GRCh37 11 62381310 62381310 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000278833.3:c.557G>A p.Arg186His p.R186H ENST00000278833 NM_000327.3 186 cGt/cAt 0 Missense_Mutation G 40 ROM1 SNP 11 G A 62137886 62137886 WashU CLEC9A 283420 genome.wustl.edu GRCh37 12 10206914 10206914 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355819.1:c.136G>C p.Gly46Arg p.G46R ENST00000355819 NM_207345.2 46 Gga/Cga 0 Missense_Mutation G 43 CLEC9A SNP 12 G C 10098181 10098181 WashU GABRA5 2558 genome.wustl.edu GRCh37 15 27128497 27128497 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335625.5:c.290A>T p.Asp97Val p.D97V ENST00000335625 NM_000810.3 97 gAc/gTc 0 Missense_Mutation A 10 GABRA5 SNP 15 A T 24679590 24679590 WashU ERN2 10595 genome.wustl.edu GRCh37 16 23711932 23711932 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256797.4:c.1597G>A p.Gly533Arg p.G533R ENST00000256797 NM_033266.3 533 Ggg/Agg 0 Missense_Mutation C 22 ERN2 SNP 16 C T 23619433 23619433 WashU ZNF764 92595 genome.wustl.edu GRCh37 16 30567208 30567208 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000252797.2:c.534C>T p.Tyr178= p.Y178= ENST00000252797 NM_033410.3 178 taC/taT 0 Silent G 40 ZNF764 SNP 16 G A 30474709 30474709 WashU EXOC3L1 283849 genome.wustl.edu GRCh37 16 67220960 67220960 + missense_variant Missense_Mutation SNP A A C Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A C A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000314586.6:c.1122T>G p.Ile374Met p.I374M ENST00000314586 NM_178516.3 374 atT/atG 0 Missense_Mutation A 5 EXOC3L SNP 16 A C 65778461 65778461 WashU CARD14 79092 genome.wustl.edu GRCh37 17 78169022 78169022 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000573882.1:c.1389C>A p.Ser463= p.S463= ENST00000573882 463 tcC/tcA 0 Silent C 21 CARD14 SNP 17 C A 75783617 75783617 WashU TMED1 11018 genome.wustl.edu GRCh37 19 10945651 10945651 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000214869.2:c.424G>A p.Glu142Lys p.E142K ENST00000214869 NM_006858.3 142 Gag/Aag 0 Missense_Mutation C 30 TMED1 SNP 19 C T 10806651 10806651 WashU KMT2B 9757 genome.wustl.edu GRCh37 19 36223567 36223567 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000222270.7:c.6117G>T p.Val2039= p.V2039= ENST00000222270 NM_014727.1 2039 gtG/gtT 0 Nonsense_Mutation G 45 MLL4 SNP 19 G T 40915407 40915407 WashU DPP10 57628 genome.wustl.edu GRCh37 2 116520158 116520158 + missense_variant Missense_Mutation SNP T T C Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T C T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000393147.2:c.1097T>C p.Met366Thr p.M366T ENST00000393147 NM_001178034.1 366 aTg/aCg 0 Missense_Mutation T 51 DPP10 SNP 2 T C 116236628 116236628 WashU TTN 7273 genome.wustl.edu GRCh37 2 179640675 179640675 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.5916A>T p.Glu1972Asp p.E1972D ENST00000589042 NM_001267550.1 1972 gaA/gaT 0 Missense_Mutation T 64 TTN SNP 2 T A 179348920 179348920 WashU KCNK3 3777 genome.wustl.edu GRCh37 2 26950943 26950943 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302909.3:c.692G>T p.Gly231Val p.G231V ENST00000302909 NM_002246.2 231 gGc/gTc 0 Missense_Mutation G 42 KCNK3 SNP 2 G T 26804447 26804447 WashU TRA2B 6434 genome.wustl.edu GRCh37 3 185643401 185643401 + missense_variant Missense_Mutation SNP T T C Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T C T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000453386.2:c.184A>G p.Arg62Gly p.R62G ENST00000453386 NM_004593.2 62 Aga/Gga 0 Missense_Mutation T 56 TRA2B SNP 3 T C 187126095 187126095 WashU THUMPD3 25917 genome.wustl.edu GRCh37 3 9412893 9412893 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000345094.3:c.480T>C p.Asn160= p.N160= ENST00000345094 NM_001114092.1 160 aaT/aaC 0 Silent T 51 THUMPD3 SNP 3 T C 9387893 9387893 WashU CTBP1-AS2 92070 genome.wustl.edu GRCh37 4 1244461 1244461 + non_coding_transcript_exon_variant RNA SNP A A T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000581398.1:n.415A>T *139* ENST00000581398 0 Missense_Mutation A 7 C4orf42 SNP 4 A T 1234461 1234461 WashU UCP1 7350 genome.wustl.edu GRCh37 4 141481109 141481109 + missense_variant Missense_Mutation SNP A A G Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A G A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000262999.3:c.865T>C p.Phe289Leu p.F289L ENST00000262999 NM_021833.4 289 Ttt/Ctt 0 Missense_Mutation A 3 UCP1 SNP 4 A G 141700559 141700559 WashU IQGAP2 10788 genome.wustl.edu GRCh37 5 75932981 75932981 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274364.6:c.1903C>A p.Leu635Ile p.L635I ENST00000274364 NM_006633.2 635 Ctc/Atc 0 Missense_Mutation C 28 IQGAP2 SNP 5 C A 75968737 75968737 WashU PIP 5304 genome.wustl.edu GRCh37 7 142836252 142836252 + missense_variant Missense_Mutation SNP A A G Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A G A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000291009.3:c.286A>G p.Lys96Glu p.K96E ENST00000291009 NM_002652.2 96 Aaa/Gaa 0 Missense_Mutation A 1 PIP SNP 7 A G 142546374 142546374 WashU SMARCD3 6604 genome.wustl.edu GRCh37 7 150938634 150938634 + missense_variant Missense_Mutation SNP T T A Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T A T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000262188.8:c.883A>T p.Arg295Trp p.R295W ENST00000262188 NM_001003801.1 295 Agg/Tgg 0 Missense_Mutation T 55 SMARCD3 SNP 7 T A 150569567 150569567 WashU CCDC129 223075 genome.wustl.edu GRCh37 7 31617984 31617984 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000451887.2:c.1184C>G p.Thr395Ser p.T395S ENST00000451887 NM_001257968.1 395 aCt/aGt 0 Missense_Mutation C 20 CCDC129 SNP 7 C G 31584509 31584509 WashU POLD2 5425 genome.wustl.edu GRCh37 7 44155738 44155738 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000406581.2:c.995A>G p.Tyr332Cys p.Y332C ENST00000406581 NM_001256879.1 332 tAc/tGc 0 Missense_Mutation T 57 POLD2 SNP 7 T C 44122263 44122263 WashU CYP3A7 1551 genome.wustl.edu GRCh37 7 99314835 99314835 + synonymous_variant Silent SNP C C T Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000336374.2:c.486G>A p.Arg162= p.R162= ENST00000336374 NM_000765.3 162 cgG/cgA 0 Silent C 22 CYP3A7 SNP 7 C T 99152771 99152771 WashU CDK5RAP2 55755 genome.wustl.edu GRCh37 9 123234065 123234065 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000349780.4:c.1819A>T p.Thr607Ser p.T607S ENST00000349780 NM_018249.5 607 Acc/Tcc 0 Missense_Mutation T 58 CDK5RAP2 SNP 9 T A 122273886 122273886 WashU HTATSF1 27336 genome.wustl.edu GRCh37 X 135579851 135579851 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000535601.1:c.8G>C p.Gly3Ala p.G3A ENST00000535601 NM_001163280.1 3 gGc/gCc 0 Missense_Mutation G 42 HTATSF1 SNP 23 G C 135407517 135407517 WashU KLHL15 80311 genome.wustl.edu GRCh37 X 24006144 24006144 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328046.8:c.1709G>A p.Trp570Ter p.W570* ENST00000328046 NM_030624.2 570 tGg/tAg 0 Nonsense_Mutation C 21 KLHL15 SNP 23 C T 23916065 23916065 WashU UBR4 23352 genome.wustl.edu GRCh37 1 19443907 19443907 + missense_variant,splice_region_variant Missense_Mutation SNP T T A Unknown TCGA-13-0885-01 TCGA-13-0885-10 T T T A T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000375254.3:c.10631A>T p.Tyr3544Phe p.Y3544F ENST00000375254 NM_020765.2 3544 tAt/tTt 0 Missense_Mutation T 49 UBR4 SNP 1 T A 19316494 19316494 WashU DHX34 9704 genome.wustl.edu GRCh37 19 47856814 47856814 + missense_variant Missense_Mutation SNP A A C Unknown TCGA-13-0885-01 TCGA-13-0885-10 A A A C A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000328771.4:c.527A>C p.Lys176Thr p.K176T ENST00000328771 NM_014681.5 176 aAg/aCg 0 Missense_Mutation A 3 DHX34 SNP 19 A C 52548654 52548654 WashU USP25 29761 genome.wustl.edu GRCh37 21 17242434 17242434 + synonymous_variant Silent SNP C C G Unknown TCGA-13-0885-01 TCGA-13-0885-10 C C C G C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000285679.6:c.2643C>G p.Leu881= p.L881= ENST00000285679 NM_013396.3 881 ctC/ctG 0 Silent C 29 USP25 SNP 21 C G 16164305 16164305 WashU WNK3 65267 genome.wustl.edu GRCh37 X 54319581 54319581 + missense_variant Missense_Mutation SNP G G C Unknown TCGA-13-0885-01 TCGA-13-0885-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000354646.2:c.1873C>G p.Gln625Glu p.Q625E ENST00000354646 NM_020922.4 625 Cag/Gag 0 Missense_Mutation G 47 WNK3 SNP 23 G C 54336306 54336306 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577574 7577574 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.707A>G p.Tyr236Cys p.Y236C ENST00000269305 NM_001126112.2 236 tAc/tGc 0 Missense_Mutation T 57 TP53 SNP 17 C C 7518299 7518299 WashU VCX 26609 genome.wustl.edu GRCh37 X 7811910 7811910 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000381059.3:c.474C>T p.Ser158= p.S158= ENST00000381059 NM_013452.2 158 agC/agT 0 Silent C 27 VCX SNP 23 C T 7771910 7771910 WashU KIDINS220 57498 genome.wustl.edu GRCh37 2 8926463 8926463 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256707.3:c.1812A>G p.Arg604= p.R604= ENST00000256707 NM_020738.2 604 agA/agG 0 Silent T 58 KIDINS220 SNP 2 T C 8843914 8843914 WashU PIRT 644139 genome.wustl.edu GRCh37 17 10728954 10728954 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000580256.2:c.9G>A p.Met3Ile p.M3I ENST00000580256 NM_001101387.1 3 atG/atA 0 Missense_Mutation C 21 PIRT SNP 17 C T 10669679 10669679 WashU OR4K1 79544 genome.wustl.edu GRCh37 14 20403901 20403901 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000285600.4:c.76T>C p.Phe26Leu p.F26L ENST00000285600 NM_001004063.2 26 Ttc/Ctc 0 Missense_Mutation T 64 OR4K1 SNP 14 T C 19473741 19473741 WashU IFNA17 3451 genome.wustl.edu GRCh37 9 21227987 21227987 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000413767.2:c.186C>T p.Pro62= p.P62= ENST00000413767 NM_021268.2 62 ccC/ccT 0 Silent G 43 IFNA17 SNP 9 G A 21217987 21217987 WashU SLCO1B1 10599 genome.wustl.edu GRCh37 12 21329829 21329829 + missense_variant,splice_region_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 A A A T A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256958.2:c.479A>T p.Lys160Ile p.K160I ENST00000256958 NM_006446.4 160 aAa/aTa 0 Missense_Mutation A 1 SLCO1B1 SNP 12 A T 21221096 21221096 WashU DHRS4L2 317749 genome.wustl.edu GRCh37 14 24459529 24459529 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335125.6:c.267T>A p.His89Gln p.H89Q ENST00000335125 NM_198083.3 89 caT/caA 0 Missense_Mutation T 51 DHRS4L2 SNP 14 T A 23529369 23529369 WashU ATP8A2 51761 genome.wustl.edu GRCh37 13 26411376 26411376 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381655.2:c.2830C>T p.Pro944Ser p.P944S ENST00000381655 NM_016529.4 944 Ccc/Tcc 0 Missense_Mutation C 30 ATP8A2 SNP 13 C T 25309376 25309376 WashU DSC3 1825 genome.wustl.edu GRCh37 18 28605882 28605882 + splice_acceptor_variant Splice_Site SNP C C A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360428.4:c.475-1G>T p.X159_splice ENST00000360428 NM_001941.3 0 Splice_Site_SNP C 24 DSC3 SNP 18 C A 26859880 26859880 WashU CCNA1 8900 genome.wustl.edu GRCh37 13 37016759 37016759 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000255465.4:c.1355G>A p.Cys452Tyr p.C452Y ENST00000255465 452 tGt/tAt 0 Missense_Mutation G 48 CCNA1 SNP 13 A A 35914759 35914759 WashU IVD 3712 genome.wustl.edu GRCh37 15 40699846 40699846 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000487418.2:c.163A>G p.Thr55Ala p.T55A ENST00000487418 55 Acc/Gcc 0 Missense_Mutation A 10 IVD SNP 15 A G 38487138 38487138 WashU FYB 2533 genome.wustl.edu GRCh37 5 39134376 39134376 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000540520.1:c.1781C>T p.Pro594Leu p.P594L ENST00000540520 NM_001243093.1 594 cCt/cTt 0 Missense_Mutation G 35 FYB SNP 5 G A 39170133 39170133 WashU SYN1 6853 genome.wustl.edu GRCh37 X 47435601 47435601 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295987.7:c.1087A>G p.Ile363Val p.I363V ENST00000295987 NM_006950.3 363 Att/Gtt 0 Missense_Mutation T 50 SYN1 SNP 23 T C 47320545 47320545 WashU AASDH 132949 genome.wustl.edu GRCh37 4 57220264 57220264 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000205214.6:c.1324C>T p.Arg442Ter p.R442* ENST00000205214 NM_181806.2 442 Cga/Tga 0 Nonsense_Mutation G 40 AASDH SNP 4 G A 56915021 56915021 WashU MPEG1 219972 genome.wustl.edu GRCh37 11 58978843 58978843 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361050.3:c.1496C>G p.Ala499Gly p.A499G ENST00000361050 NM_001039396.1 499 gCc/gGc 0 Missense_Mutation G 42 MPEG1 SNP 11 G C 58735419 58735419 WashU CDH8 1006 genome.wustl.edu GRCh37 16 61687587 61687587 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000577390.1:c.2325C>T p.Tyr775= p.Y775= ENST00000577390 NM_001796.4 775 taC/taT 0 Silent G 44 CDH8 SNP 16 G A 60245088 60245088 WashU LPHN3 23284 genome.wustl.edu GRCh37 4 62812764 62812764 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000514591.1:c.2348C>G p.Thr783Arg p.T783R ENST00000514591 783 aCg/aGg 0 Missense_Mutation C 19 LPHN3 SNP 4 C G 62495359 62495359 WashU RP11-84A1.1 genome.wustl.edu GRCh37 4 62971512 62971513 + non_coding_transcript_exon_variant RNA DNP CT CT AA novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 CT CT CT AA CT CT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000470598.1:n.255_256delinsTT *85* ENST00000470598 0 Missense CT 32 LOC391656 DNP 4 CT AA 62654108 62654107 WashU SRGAP1 57522 genome.wustl.edu GRCh37 12 64502796 64502796 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355086.3:c.1898A>G p.Tyr633Cys p.Y633C ENST00000355086 NM_020762.2 633 tAc/tGc 0 Missense_Mutation A 14 SRGAP1 SNP 12 A G 62789063 62789063 WashU KCTD7 154881 genome.wustl.edu GRCh37 7 66103879 66103879 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000275532.3:c.530G>A p.Arg177His p.R177H ENST00000275532 NM_153033.4 177 cGt/cAt 0 Missense_Mutation G 40 KCTD7 SNP 7 G A 65741314 65741314 WashU ACRC 93953 genome.wustl.edu GRCh37 X 70823745 70823745 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000373695.1:c.618C>T p.Asp206= p.D206= ENST00000373695 206 gaC/gaT 0 Silent C 19 ACRC SNP 23 C T 70740470 70740470 WashU KCNQ5 56479 genome.wustl.edu GRCh37 6 73787518 73787518 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000342056.2:c.826G>A p.Val276Ile p.V276I ENST00000342056 NM_001160132.1 276 Gtt/Att 0 Missense_Mutation G 44 KCNQ5 SNP 6 G A 73844239 73844239 WashU VCAN 1462 genome.wustl.edu GRCh37 5 82835549 82835549 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265077.3:c.6727A>G p.Thr2243Ala p.T2243A ENST00000265077 NM_004385.4 2243 Aca/Gca 0 Missense_Mutation A 2 VCAN SNP 5 G G 82871305 82871305 WashU SPATA31D1 389763 genome.wustl.edu GRCh37 9 84609603 84609603 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344803.2:c.4218G>A p.Arg1406= p.R1406= ENST00000344803 NM_001001670.2 1406 agG/agA 0 Silent G 41 FLJ46321 SNP 9 G A 83799423 83799423 WashU PICALM 8301 genome.wustl.edu GRCh37 11 85685795 85685795 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393346.3:c.1900G>A p.Val634Ile p.V634I ENST00000393346 634 Gtc/Atc 0 Missense_Mutation C 17 PICALM SNP 11 C T 85363443 85363443 WashU UNC79 57578 genome.wustl.edu GRCh37 14 94120313 94120313 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256339.4:c.5810C>T p.Ser1937Leu p.S1937L ENST00000256339 NM_020818.3 1937 tCg/tTg 0 Missense_Mutation C 31 KIAA1409 SNP 14 C T 93190066 93190066 WashU TTC37 9652 genome.wustl.edu GRCh37 5 94856478 94856478 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358746.2:c.2056G>C p.Asp686His p.D686H ENST00000358746 NM_014639.3 686 Gat/Cat 0 Missense_Mutation C 29 TTC37 SNP 5 C G 94882234 94882234 WashU TTC37 9652 genome.wustl.edu GRCh37 5 94856496 94856496 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358746.2:c.2038G>T p.Ala680Ser p.A680S ENST00000358746 NM_014639.3 680 Gca/Tca 0 Missense_Mutation C 26 TTC37 SNP 5 A A 94882252 94882252 WashU TTC37 9652 genome.wustl.edu GRCh37 5 94857881 94857881 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358746.2:c.1888G>T p.Glu630Ter p.E630* ENST00000358746 NM_014639.3 630 Gaa/Taa 0 Nonsense_Mutation C 32 TTC37 SNP 5 C A 94883637 94883637 WashU TCL1B 9623 genome.wustl.edu GRCh37 14 96157186 96157186 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340722.7:c.276C>T p.Pro92= p.P92= ENST00000340722 NM_004918.3 92 ccC/ccT 0 Silent C 23 TCL1B SNP 14 C T 95226939 95226939 WashU TRIM43 129868 genome.wustl.edu GRCh37 2 96259860 96259860 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000272395.2:c.89G>T p.Cys30Phe p.C30F ENST00000272395 NM_138800.1 30 tGt/tTt 0 Missense_Mutation G 48 TRIM43 SNP 2 G T 95623587 95623587 WashU DIAPH2 1730 genome.wustl.edu GRCh37 X 96185750 96185750 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324765.8:c.997A>T p.Ile333Leu p.I333L ENST00000324765 333 Ata/Tta 0 Missense_Mutation A 16 DIAPH2 SNP 23 A T 96072406 96072406 WashU LPPR4 9890 genome.wustl.edu GRCh37 1 99772257 99772257 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370185.3:c.1983C>T p.Tyr661= p.Y661= ENST00000370185 NM_014839.4 661 taC/taT 0 Silent C 19 LPPR4 SNP 1 C T 99544845 99544845 WashU GNPTAB 79158 genome.wustl.edu GRCh37 12 102153834 102153834 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299314.7:c.3223C>T p.Gln1075Ter p.Q1075* ENST00000299314 NM_024312.4 1075 Cag/Tag 0 Nonsense_Mutation G 45 GNPTAB SNP 12 G A 100677965 100677965 WashU STAB2 55576 genome.wustl.edu GRCh37 12 104131483 104131483 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000388887.2:c.5622C>T p.Ala1874= p.A1874= ENST00000388887 NM_017564.9 1874 gcC/gcT 0 Silent C 24 STAB2 SNP 12 C T 102655613 102655613 WashU IGHGP genome.wustl.edu GRCh37 14 106135242 106135242 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390555.3:n.415C>G *139* ENST00000390555 0 Missense_Mutation G 40 ENSG00000211894 SNP 14 G C 105206287 105206287 WashU SYT6 148281 genome.wustl.edu GRCh37 1 114640380 114640380 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000609117.1:c.1229C>G p.Ser410Cys p.S410C ENST00000609117 410 tCc/tGc 0 Missense_Mutation G 41 SYT6 SNP 1 G C 114441903 114441903 WashU SYT6 148281 genome.wustl.edu GRCh37 1 114641884 114641884 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000609117.1:c.941C>G p.Pro314Arg p.P314R ENST00000609117 314 cCc/cGc 0 Missense_Mutation G 43 SYT6 SNP 1 G C 114443407 114443407 WashU AMPD1 270 genome.wustl.edu GRCh37 1 115231552 115231552 + intron_variant Intron SNP T T C novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000520113.2:c.134-190A>G *45* ENST00000520113 0 Missense_Mutation T 49 AMPD1 SNP 1 T C 115033075 115033075 WashU IGSF3 3321 genome.wustl.edu GRCh37 1 117159062 117159062 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369483.1:c.61C>T p.Arg21Trp p.R21W ENST00000369483 NM_001542.3 21 Cgg/Tgg 0 Missense_Mutation G 38 IGSF3 SNP 1 G A 116960585 116960585 WashU HAS2 3037 genome.wustl.edu GRCh37 8 122626537 122626537 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303924.4:c.1471G>T p.Gly491Cys p.G491C ENST00000303924 NM_005328.2 491 Ggt/Tgt 0 Missense_Mutation C 21 HAS2 SNP 8 C A 122695718 122695718 WashU SCN3B 55800 genome.wustl.edu GRCh37 11 123513205 123513205 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392770.2:c.394C>T p.Arg132Trp p.R132W ENST00000392770 NM_018400.3 132 Cgg/Tgg 0 Missense_Mutation G 37 SCN3B SNP 11 G A 123018415 123018415 WashU ACADSB 36 genome.wustl.edu GRCh37 10 124802682 124802682 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000358776.4:c.802G>A p.Val268Ile p.V268I ENST00000358776 NM_001609.3 268 Gtc/Atc 0 Missense_Mutation G 48 ACADSB SNP 10 G A 124792672 124792672 WashU GCC1 79571 genome.wustl.edu GRCh37 7 127222792 127222792 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321407.2:c.1604G>A p.Arg535Gln p.R535Q ENST00000321407 NM_024523.5 535 cGg/cAg 0 Missense_Mutation C 23 GCC1 SNP 7 C T 127010028 127010028 WashU TNPO3 23534 genome.wustl.edu GRCh37 7 128612519 128612519 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000265388.5:c.2391G>A p.Arg797= p.R797= ENST00000265388 797 agG/agA 0 Silent C 18 TNPO3 SNP 7 C T 128399755 128399755 WashU NXPH2 11249 genome.wustl.edu GRCh37 2 139428869 139428869 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272641.3:c.418G>T p.Gly140Ter p.G140* ENST00000272641 NM_007226.2 140 Gga/Tga 0 Nonsense_Mutation C 21 NXPH2 SNP 2 C A 139145339 139145339 WashU NOTCH2NL 388677 genome.wustl.edu GRCh37 1 145273262 145273262 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369340.3:c.116C>A p.Thr39Asn p.T39N ENST00000369340 39 aCt/aAt 0 Missense_Mutation C 20 NOTCH2NL SNP 1 C A 143984619 143984619 WashU ORC4 5000 genome.wustl.edu GRCh37 2 148730337 148730337 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392857.5:c.196A>T p.Ile66Phe p.I66F ENST00000392857 NM_001190882.2 66 Atc/Ttc 0 Missense_Mutation T 49 ORC4L SNP 2 T A 148446807 148446807 WashU PLEKHG1 57480 genome.wustl.edu GRCh37 6 151089810 151089810 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000367328.1:c.448C>T p.Pro150Ser p.P150S ENST00000367328 NM_001029884.1 150 Ccc/Tcc 0 Missense_Mutation C 30 PLEKHG1 SNP 6 C T 151131503 151131503 WashU GPD2 2820 genome.wustl.edu GRCh37 2 157439369 157439369 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310454.6:c.2123C>T p.Ala708Val p.A708V ENST00000310454 NM_001083112.2 708 gCa/gTa 0 Missense_Mutation C 25 GPD2 SNP 2 C T 157147615 157147615 WashU GABRG2 2566 genome.wustl.edu GRCh37 5 161580301 161580301 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000414552.2:c.1475A>G p.Tyr492Cys p.Y492C ENST00000414552 NM_198903.2 492 tAt/tGt 0 Missense_Mutation A 16 GABRG2 SNP 5 A G 161512879 161512879 WashU ASTN1 460 genome.wustl.edu GRCh37 1 176838105 176838105 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361833.2:c.3522G>A p.Gln1174= p.Q1174= ENST00000361833 1174 caG/caA 0 Silent C 32 ASTN1 SNP 1 C T 175104728 175104728 WashU TEDDM1 127670 genome.wustl.edu GRCh37 1 182368911 182368911 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367565.1:c.710A>G p.Lys237Arg p.K237R ENST00000367565 NM_172000.3 237 aAa/aGa 0 Missense_Mutation T 64 TEDDM1 SNP 1 T C 180635534 180635534 WashU ECE2 9718 genome.wustl.edu GRCh37 3 184008373 184008373 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000402825.3:c.2038G>A p.Ala680Thr p.A680T ENST00000402825 NM_014693.3 680 Gcc/Acc 0 Missense_Mutation G 46 ECE2 SNP 3 G A 185491067 185491067 WashU GULP1 51454 genome.wustl.edu GRCh37 2 189449041 189449041 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000409580.1:c.659T>C p.Ile220Thr p.I220T ENST00000409580 220 aTt/aCt 0 Missense_Mutation T 52 GULP1 SNP 2 T C 189157286 189157286 WashU PTPRC 5788 genome.wustl.edu GRCh37 1 198671561 198671561 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000442510.2:c.485C>A p.Pro162Gln p.P162Q ENST00000442510 162 cCa/cAa 0 Missense_Mutation C 21 PTPRC SNP 1 C A 196938184 196938184 WashU NFASC 23114 genome.wustl.edu GRCh37 1 204970333 204970333 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339876.6:c.3055C>T p.Leu1019Phe p.L1019F ENST00000339876 NM_001005388.2 1019 Ctc/Ttc 0 Missense_Mutation C 28 NFASC SNP 1 C T 203236956 203236956 WashU IKBKE 9641 genome.wustl.edu GRCh37 1 206652405 206652405 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367120.3:c.1112C>T p.Ala371Val p.A371V ENST00000367120 NM_014002.3 371 gCc/gTc 0 Missense_Mutation C 26 IKBKE SNP 1 C T 204719028 204719028 WashU PPP2R1A 5518 genome.wustl.edu GRCh37 19 52716327 52716327 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322088.6:c.771G>T p.Trp257Cys p.W257C ENST00000322088 NM_014225.5 257 tgG/tgT 0 Missense_Mutation G 42 PPP2R1A SNP 19 G T 57408139 57408139 WashU KCNH8 131096 genome.wustl.edu GRCh37 3 19322773 19322773 + missense_variant Missense_Mutation SNP G G T Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000328405.2:c.394G>T p.Asp132Tyr p.D132Y ENST00000328405 NM_144633.2 132 Gat/Tat 0 Missense_Mutation G 33 KCNH8 SNP 3 G T 19297777 19297777 WashU HIST1H1C 3006 genome.wustl.edu GRCh37 6 26056646 26056646 + missense_variant Missense_Mutation SNP G G C Unknown TCGA-24-1616-01 TCGA-24-1616-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000343677.2:c.11C>G p.Thr4Ser p.T4S ENST00000343677 NM_005319.3 4 aCt/aGt 0 Missense_Mutation G 36 HIST1H1C SNP 6 G C 26164625 26164625 WashU TIMM17B 10245 genome.wustl.edu GRCh37 X 48751255 48751255 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1616-01 TCGA-24-1616-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396779.3:c.508G>C p.Gly170Arg p.G170R ENST00000396779 NM_001167947.1 170 Ggc/Cgc 0 Missense_Mutation C 22 TIMM17B SNP 23 C G 48636199 48636199 WashU TP53 7157 genome.wustl.edu GRCh37 17 7574003 7574003 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.1024C>T p.Arg342Ter p.R342* ENST00000269305 NM_001126112.2 342 Cga/Tga 0 Nonsense_Mutation G 39 TP53 SNP 17 A A 7514728 7514728 WashU HAO1 54363 genome.wustl.edu GRCh37 20 7921060 7921060 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378789.3:c.10C>T p.Arg4Trp p.R4W ENST00000378789 NM_017545.2 4 Cgg/Tgg 0 Missense_Mutation G 39 HAO1 SNP 20 G A 7869060 7869060 WashU ATXN3L 92552 genome.wustl.edu GRCh37 X 13337344 13337344 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380622.2:c.710G>A p.Arg237His p.R237H ENST00000380622 NM_001135995.1 237 cGc/cAc 0 Missense_Mutation C 27 ATXN3L SNP 23 C T 13247265 13247265 WashU ZNF101 94039 genome.wustl.edu GRCh37 19 19790934 19790934 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000592502.1:c.1136G>T p.Ser379Ile p.S379I ENST00000592502 379 aGt/aTt 0 Missense_Mutation G 36 ZNF101 SNP 19 G T 19651934 19651934 WashU VWA3A 146177 genome.wustl.edu GRCh37 16 22144237 22144237 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389398.5:c.1889A>G p.Tyr630Cys p.Y630C ENST00000389398 NM_173615.3 630 tAc/tGc 0 Missense_Mutation A 14 VWA3A SNP 16 A G 22051738 22051738 WashU C2orf16 84226 genome.wustl.edu GRCh37 2 27804344 27804344 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000408964.2:c.4905G>C p.Gln1635His p.Q1635H ENST00000408964 NM_032266.3 1635 caG/caC 0 Missense_Mutation G 33 C2orf16 SNP 2 G C 27657848 27657848 WashU CD2BP2 10421 genome.wustl.edu GRCh37 16 30364555 30364555 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000305596.3:c.862G>C p.Glu288Gln p.E288Q ENST00000305596 NM_006110.2 288 Gag/Cag 0 Missense_Mutation C 30 CD2BP2 SNP 16 C G 30272056 30272056 WashU SPOCD1 90853 genome.wustl.edu GRCh37 1 32265458 32265458 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360482.2:c.1735C>G p.Pro579Ala p.P579A ENST00000360482 NM_144569.4 579 Cca/Gca 0 Missense_Mutation G 43 SPOCD1 SNP 1 G C 32038045 32038045 WashU NOTCH4 4855 genome.wustl.edu GRCh37 6 32172107 32172107 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375023.3:c.2925A>T p.Gln975His p.Q975H ENST00000375023 NM_004557.3 975 caA/caT 0 Missense_Mutation T 60 NOTCH4 SNP 6 T A 32280085 32280085 WashU C21orf62 56245 genome.wustl.edu GRCh37 21 34166553 34166553 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000536776.1:c.180G>T p.Met60Ile p.M60I ENST00000536776 NM_019596.5 60 atG/atT 0 Missense_Mutation C 17 C21orf62 SNP 21 C A 33088423 33088423 WashU HIPK3 10114 genome.wustl.edu GRCh37 11 33358691 33358692 + missense_variant Missense_Mutation DNP GA GA TT novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 GA GA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000303296.4:c.1292_1293delinsTT p.Arg431Ile p.R431I ENST00000303296 NM_005734.4 431 aGA/aTT 0 Missense_Mutation GA 33 HIPK3 DNP 11 GA TT 33315268 33315267 WashU DLGAP4 22839 genome.wustl.edu GRCh37 20 35060447 35060447 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373913.3:c.327G>C p.Glu109Asp p.E109D ENST00000373913 109 gaG/gaC 0 Missense_Mutation G 33 DLGAP4 SNP 20 G C 34493861 34493861 WashU RALGAPA1 253959 genome.wustl.edu GRCh37 14 36008822 36008822 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307138.6:c.6178A>G p.Met2060Val p.M2060V ENST00000307138 NM_194301.2 2060 Atg/Gtg 0 Missense_Mutation T 52 RALGAPA1 SNP 14 C C 35078573 35078573 WashU CBY1 25776 genome.wustl.edu GRCh37 22 39064131 39064131 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396811.2:c.72G>A p.Leu24= p.L24= ENST00000396811 NM_001002880.1 24 ctG/ctA 0 Silent G 46 CBY1 SNP 22 A A 37394077 37394077 WashU PDIA3 2923 genome.wustl.edu GRCh37 15 44058127 44058127 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300289.5:c.762G>T p.Leu254Phe p.L254F ENST00000300289 NM_005313.4 254 ttG/ttT 0 Missense_Mutation G 45 PDIA3 SNP 15 T T 41845419 41845419 WashU MCAT 27349 genome.wustl.edu GRCh37 22 43533166 43533166 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000290429.6:c.650C>A p.Ser217Tyr p.S217Y ENST00000290429 NM_173467.4 217 tCt/tAt 0 Missense_Mutation G 33 MCAT SNP 22 G T 41863110 41863110 WashU HAUS1 115106 genome.wustl.edu GRCh37 18 43708080 43708080 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282058.6:c.826A>T p.Met276Leu p.M276L ENST00000282058 NM_138443.3 276 Atg/Ttg 0 Missense_Mutation A 12 HAUS1 SNP 18 A T 41962078 41962078 WashU RSU1P1 genome.wustl.edu GRCh37 10 43232605 43232605 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000453416.1:n.439G>A *147* ENST00000453416 0 Splice_Site_SNP G 44 LOC100129622 SNP 10 G A 42552611 42552611 WashU SLC38A1 81539 genome.wustl.edu GRCh37 12 46594968 46594968 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398637.5:c.916A>G p.Lys306Glu p.K306E ENST00000398637 NM_030674.3 306 Aaa/Gaa 0 Missense_Mutation T 64 SLC38A1 SNP 12 T C 44881235 44881235 WashU PEX16 9409 genome.wustl.edu GRCh37 11 45935878 45935878 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000241041.3:c.683C>T p.Pro228Leu p.P228L ENST00000241041 NM_057174.2 228 cCg/cTg 0 Missense_Mutation G 39 PEX16 SNP 11 A A 45892454 45892454 WashU CLIC5 53405 genome.wustl.edu GRCh37 6 45870921 45870921 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000185206.6:c.1137C>T p.Asn379= p.N379= ENST00000185206 NM_001114086.1 379 aaC/aaT 0 Silent G 40 CLIC5 SNP 6 G A 45978899 45978899 WashU RB1 5925 genome.wustl.edu GRCh37 13 49033967 49033967 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000267163.4:c.2104C>A p.Gln702Lys p.Q702K ENST00000267163 NM_000321.2 702 Caa/Aaa 0 Missense_Mutation C 21 RB1 SNP 13 A A 47931968 47931968 WashU CELSR3 1951 genome.wustl.edu GRCh37 3 48697952 48697952 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000164024.4:c.2116G>A p.Gly706Ser p.G706S ENST00000164024 NM_001407.2 706 Ggc/Agc 0 Missense_Mutation C 21 CELSR3 SNP 3 T T 48672956 48672956 WashU NID2 22795 genome.wustl.edu GRCh37 14 52534882 52534882 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216286.5:c.229-1G>C p.X77_splice ENST00000216286 NM_007361.3 0 Splice_Site_SNP C 24 NID2 SNP 14 C G 51604632 51604632 WashU CACNA1D 776 genome.wustl.edu GRCh37 3 53531197 53531197 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000288139.4:c.86G>T p.Gly29Val p.G29V ENST00000288139 NM_000720.3 29 gGc/gTc 0 Missense_Mutation G 42 CACNA1D SNP 3 G T 53506237 53506237 WashU ERBB3 2065 genome.wustl.edu GRCh37 12 56487166 56487166 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000267101.3:c.1312G>A p.Val438Ile p.V438I ENST00000267101 NM_001982.3 438 Gtc/Atc 0 Missense_Mutation G 48 ERBB3 SNP 12 G A 54773433 54773433 WashU OR5B21 219968 genome.wustl.edu GRCh37 11 58275168 58275168 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360374.2:c.411T>C p.Gly137= p.G137= ENST00000360374 NM_001005218.1 137 ggT/ggC 0 Silent A 6 OR5B21 SNP 11 A G 58031744 58031744 WashU ANK3 288 genome.wustl.edu GRCh37 10 61831615 61831615 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000280772.2:c.9024C>G p.His3008Gln p.H3008Q ENST00000280772 NM_020987.3 3008 caC/caG 0 Missense_Mutation G 36 ANK3 SNP 10 C C 61501621 61501621 WashU PCDH9 5101 genome.wustl.edu GRCh37 13 66879068 66879068 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000544246.1:c.3433C>T p.Pro1145Ser p.P1145S ENST00000544246 NM_203487.2 1145 Cct/Tct 0 Missense_Mutation G 42 PCDH9 SNP 13 G A 65777069 65777069 WashU CSPP1 79848 genome.wustl.edu GRCh37 8 68087634 68087634 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262210.5:c.3057G>C p.Lys1019Asn p.K1019N ENST00000262210 NM_024790.6 1019 aaG/aaC 0 Missense_Mutation G 33 CSPP1 SNP 8 G C 68250188 68250188 WashU RIMS1 22999 genome.wustl.edu GRCh37 6 72975151 72975151 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000521978.1:c.3253C>A p.His1085Asn p.H1085N ENST00000521978 NM_014989.5 1085 Cat/Aat 0 Missense_Mutation C 29 RIMS1 SNP 6 C A 73031872 73031872 WashU KARS 3735 genome.wustl.edu GRCh37 16 75663370 75663370 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319410.5:c.1578G>A p.Ala526= p.A526= ENST00000319410 NM_001130089.1 526 gcG/gcA 0 Silent C 19 KARS SNP 16 T T 74220871 74220871 WashU KAT6B 23522 genome.wustl.edu GRCh37 10 76789435 76789435 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287239.4:c.4853G>T p.Ser1618Ile p.S1618I ENST00000287239 NM_001256468.1 1618 aGt/aTt 0 Missense_Mutation G 36 MYST4 SNP 10 G T 76459441 76459441 WashU WDR45B 56270 genome.wustl.edu GRCh37 17 80574440 80574440 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392325.4:c.888G>T p.Pro296= p.P296= ENST00000392325 NM_019613.3 296 ccG/ccT 0 Silent C 19 WDR45L SNP 17 A A 78167729 78167729 WashU MAML2 84441 genome.wustl.edu GRCh37 11 95825374 95825374 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 T T T C T C Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000524717.1:c.1821A>G p.Gln607= p.Q607= ENST00000524717 NM_032427.1 607 caA/caG 0 Silent T 60 MAML2 SNP 11 T C 95465022 95465022 WashU CYP3A43 64816 genome.wustl.edu GRCh37 7 99457614 99457614 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000222382.5:c.1026+1G>T p.X342_splice ENST00000222382 0 Splice_Site_SNP G 44 CYP3A43 SNP 7 G T 99295550 99295550 WashU BTK 695 genome.wustl.edu GRCh37 X 100608315 100608315 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308731.7:c.1775C>T p.Ser592Phe p.S592F ENST00000308731 NM_000061.2 592 tCc/tTc 0 Missense_Mutation G 41 BTK SNP 23 A A 100494971 100494971 WashU INVS 27130 genome.wustl.edu GRCh37 9 103004892 103004892 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262457.2:c.837G>A p.Lys279= p.K279= ENST00000262457 NM_014425.3 279 aaG/aaA 0 Silent G 36 INVS SNP 9 A A 102044713 102044713 WashU DENND2D 79961 genome.wustl.edu GRCh37 1 111742270 111742270 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357640.4:c.218C>A p.Pro73His p.P73H ENST00000357640 NM_024901.4 73 cCt/cAt 0 Missense_Mutation G 35 DENND2D SNP 1 G T 111543793 111543793 WashU MOV10 4343 genome.wustl.edu GRCh37 1 113232556 113232556 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000413052.2:c.672G>A p.Ser224= p.S224= ENST00000413052 NM_001130079.1 224 tcG/tcA 0 Silent G 39 MOV10 SNP 1 G A 113034079 113034079 WashU STXBP5L 9515 genome.wustl.edu GRCh37 3 121137248 121137248 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273666.6:c.3363T>G p.Ser1121Arg p.S1121R ENST00000273666 NM_014980.2 1121 agT/agG 0 Missense_Mutation T 57 STXBP5L SNP 3 T G 122619938 122619938 WashU SNX19 399979 genome.wustl.edu GRCh37 11 130785048 130785048 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265909.4:c.787G>T p.Val263Leu p.V263L ENST00000265909 NM_014758.2 263 Gta/Tta 0 Missense_Mutation C 17 SNX19 SNP 11 C A 130290258 130290258 WashU EXOC4 60412 genome.wustl.edu GRCh37 7 133580353 133580353 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253861.4:c.1736G>A p.Ser579Asn p.S579N ENST00000253861 NM_021807.3 579 aGc/aAc 0 Missense_Mutation G 34 EXOC4 SNP 7 G A 133230893 133230893 WashU MAP3K19 80122 genome.wustl.edu GRCh37 2 135749115 135749115 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375845.3:c.610A>G p.Ser204Gly p.S204G ENST00000375845 NM_025052.3 204 Agc/Ggc 0 Missense_Mutation T 56 YSK4 SNP 2 T C 135465585 135465585 WashU MGAM 8972 genome.wustl.edu GRCh37 7 141750507 141750507 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000549489.2:c.2648A>G p.Glu883Gly p.E883G ENST00000549489 NM_004668.2 883 gAg/gGg 0 Missense_Mutation A 11 MGAM SNP 7 A G 141396976 141396976 WashU HIST2H2AB 317772 genome.wustl.edu GRCh37 1 149859164 149859164 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331128.3:c.303C>A p.Val101= p.V101= ENST00000331128 NM_175065.2 101 gtC/gtA 0 Silent G 45 HIST2H2AB SNP 1 G T 148125788 148125788 WashU LATS1 9113 genome.wustl.edu GRCh37 6 150004239 150004239 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253339.5:c.1986A>G p.Lys662= p.K662= ENST00000253339 662 aaA/aaG 0 Silent T 60 LATS1 SNP 6 C C 150045932 150045932 WashU FLG2 388698 genome.wustl.edu GRCh37 1 152328934 152328934 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000388718.5:c.1328A>T p.Glu443Val p.E443V ENST00000388718 NM_001014342.2 443 gAa/gTa 0 Missense_Mutation T 62 FLG2 SNP 1 T A 150595558 150595558 WashU SLC36A2 153201 genome.wustl.edu GRCh37 5 150704952 150704952 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335244.4:c.905G>T p.Gly302Val p.G302V ENST00000335244 NM_181776.2 302 gGa/gTa 0 Missense_Mutation C 30 SLC36A2 SNP 5 A A 150685145 150685145 WashU IQGAP3 128239 genome.wustl.edu GRCh37 1 156521875 156521875 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361170.2:c.1461C>G p.Ala487= p.A487= ENST00000361170 NM_178229.4 487 gcC/gcG 0 Silent G 43 IQGAP3 SNP 1 G C 154788499 154788499 WashU FCRL1 115350 genome.wustl.edu GRCh37 1 157773774 157773774 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368176.3:c.180C>T p.Ala60= p.A60= ENST00000368176 NM_001159398.1 60 gcC/gcT 0 Silent G 35 FCRL1 SNP 1 G A 156040398 156040398 WashU SCN1A 6323 genome.wustl.edu GRCh37 2 166900452 166900452 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303395.4:c.1770C>T p.Phe590= p.F590= ENST00000303395 590 ttC/ttT 0 Silent G 37 SCN1A SNP 2 G A 166608698 166608698 WashU INHA 3623 genome.wustl.edu GRCh37 2 220440019 220440019 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000243786.2:c.872G>C p.Cys291Ser p.C291S ENST00000243786 NM_002191.3 291 tGt/tCt 0 Missense_Mutation G 48 INHA SNP 2 G C 220148263 220148263 WashU ENAH 55740 genome.wustl.edu GRCh37 1 225702312 225702312 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 T T T G T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366844.3:c.1204A>C p.Arg402= p.R402= ENST00000366844 NM_001008493.1 402 Agg/Cgg 0 Silent T 53 ENAH SNP 1 T G 223768935 223768935 WashU BRCA1 672 genome.wustl.edu GRCh37 17 41243753 41243754 + frameshift_variant Frame_Shift_Ins INS - - TT novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 - - - TT - - Unknown Valid Somatic 4 Capture 454_PCR_WGA;Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357654.3:c.3793_3794dup p.Asn1265LysfsTer4 p.N1265Kfs*4 ENST00000357654 NM_007294.3 1265 aat/aaAAt 0 Frame_Shift_Ins - 16 BRCA1 INS 17 - TT 38497280 38497279 WashU ANGPT1 284 genome.wustl.edu GRCh37 8 108315546 108315547 + stop_gained,frameshift_variant Nonsense_Mutation INS - - TT novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000517746.1:c.857_858insAA p.Cys286Ter p.C286* ENST00000517746 NM_001199859.1 286 tgt/tgAAt 0 Frame_Shift_Ins - 6 ANGPT1 INS 8 - TT 108384723 108384722 WashU DARC 2532 genome.wustl.edu GRCh37 1 159175594 159175607 + frameshift_variant Frame_Shift_Del DEL GCACTCGCAGCTCT GCACTCGCAGCTCT - novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 GCACTCGCAGCTCT GCACTCGCAGCTCT GCACTCGCAGCTCT - GCACTCGCAGCTCT GCACTCGCAGCTCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368121.2:c.373_386del p.Thr125ProfsTer3 p.T125Pfs*3 ENST00000368121 NM_001122951.2 124 aGCACTCGCAGCTCT/a 0 Frame_Shift_Del GCACTCGCAGCTCT 34 DARC DEL 1 GCACTCGCAGCTCT - 157442231 157442218 WashU KIF26B 55083 genome.wustl.edu GRCh37 1 245809581 245809584 + splice_donor_variant,coding_sequence_variant Splice_Site DEL AAGT AAGT - novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 AAGT AAGT AAGT - AAGT AAGT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000407071.2:c.2258+3_2258+6del p.X753_splice ENST00000407071 NM_018012.3 753 0 Frame_Shift_Del AAGT 5 KIF26B DEL 1 AAGT - 243876207 243876204 WashU EPHB2 2048 genome.wustl.edu GRCh37 1 23240153 23240153 + 3_prime_UTR_variant 3'UTR SNP C C A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374632.3:c.*90C>A *30* ENST00000374632 0 Silent C 26 EPHB2 SNP 1 A A 23112740 23112740 WashU ALG9 79796 genome.wustl.edu GRCh37 11 111724117 111724117 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000531154.1:c.368G>A p.Gly123Glu p.G123E ENST00000531154 NM_024740.2 123 gGa/gAa 0 Nonsense_Mutation C 30 ALG9 SNP 11 T T 111229327 111229327 WashU HIPK2 28996 genome.wustl.edu GRCh37 7 139285283 139285283 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000406875.3:c.2315C>T p.Thr772Ile p.T772I ENST00000406875 NM_022740.4 772 aCc/aTc 0 Missense_Mutation G 44 HIPK2 SNP 7 G A 138935823 138935823 WashU CPXM1 56265 genome.wustl.edu GRCh37 20 2778850 2778850 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380605.2:c.538C>T p.His180Tyr p.H180Y ENST00000380605 NM_001184699.1 180 Cac/Tac 0 Missense_Mutation G 46 CPXM1 SNP 20 A A 2726850 2726850 WashU NOP2 4839 genome.wustl.edu GRCh37 12 6675291 6675291 + synonymous_variant Silent SNP A A C novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 A A C C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382421.3:c.450T>G p.Ser150= p.S150= ENST00000382421 NM_001258309.1 150 tcT/tcG 0 Silent A 7 NOP2 SNP 12 C C 6545552 6545552 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577539 7577539 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.742C>T p.Arg248Trp p.R248W ENST00000269305 NM_001126112.2 248 Cgg/Tgg 0 Missense_Mutation G 39 TP53 SNP 17 A A 7518264 7518264 WashU ALOX15B 247 genome.wustl.edu GRCh37 17 7948892 7948892 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380183.4:c.1088C>T p.Ala363Val p.A363V ENST00000380183 NM_001141.2 363 gCc/gTc 0 Missense_Mutation C 26 ALOX15B SNP 17 T T 7889617 7889617 WashU P2RY11 5032 genome.wustl.edu GRCh37 19 10224364 10224364 + synonymous_variant Silent SNP G G C novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321826.4:c.75G>C p.Gly25= p.G25= ENST00000321826 NM_002566.4 25 ggG/ggC 0 Silent G 44 P2RY11 SNP 19 G C 10085364 10085364 WashU PRAMEF12 390999 genome.wustl.edu GRCh37 1 12837281 12837281 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357726.4:c.991C>A p.Leu331Met p.L331M ENST00000357726 NM_001080830.1 331 Ctg/Atg 0 Missense_Mutation C 20 PRAMEF12 SNP 1 C A 12759868 12759868 WashU CELA2A 63036 genome.wustl.edu GRCh37 1 15792585 15792585 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359621.4:c.585C>T p.Ser195= p.S195= ENST00000359621 NM_033440.2 195 agC/agT 0 Silent C 27 CELA2A SNP 1 C T 15665172 15665172 WashU CUBN 8029 genome.wustl.edu GRCh37 10 16980963 16980963 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377833.4:c.5732G>C p.Arg1911Thr p.R1911T ENST00000377833 NM_001081.3 1911 aGg/aCg 0 Missense_Mutation C 24 CUBN SNP 10 C G 17020969 17020969 WashU ADAMTSL1 92949 genome.wustl.edu GRCh37 9 18622344 18622344 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380548.4:c.578A>C p.Lys193Thr p.K193T ENST00000380548 NM_001040272.5 193 aAa/aCa 0 Missense_Mutation A 1 ADAMTSL1 SNP 9 A C 18612344 18612344 WashU GOLGA8CP 729786 genome.wustl.edu GRCh37 15 20777920 20777920 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000446144.2:n.2138G>A *713* ENST00000446144 0 Silent G 46 ENSG00000181984 SNP 15 A A 19037934 19037934 WashU TNRC6A 27327 genome.wustl.edu GRCh37 16 24803028 24803029 + missense_variant Missense_Mutation DNP GG GG TT novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 GG GG GG TT GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395799.3:c.3065_3066delinsTT p.Trp1022Phe p.W1022F ENST00000395799 NM_014494.2 1022 tGG/tTT 0 Missense GG 47 TNRC6A DNP 16 GG TT 24710530 24710529 WashU HIST1H3B 8358 genome.wustl.edu GRCh37 6 26032138 26032138 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244661.2:c.151G>C p.Glu51Gln p.E51Q ENST00000244661 NM_003537.3 51 Gag/Cag 0 Missense_Mutation C 31 HIST1H3B SNP 6 C G 26140117 26140117 WashU DSC2 1824 genome.wustl.edu GRCh37 18 28666673 28666673 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000280904.6:c.808A>T p.Lys270Ter p.K270* ENST00000280904 NM_024422.3 270 Aaa/Taa 0 Nonsense_Mutation T 63 DSC2 SNP 18 T A 26920671 26920671 WashU LNX2 222484 genome.wustl.edu GRCh37 13 28155767 28155767 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316334.3:c.74A>T p.Glu25Val p.E25V ENST00000316334 NM_153371.3 25 gAa/gTa 0 Missense_Mutation T 62 LNX2 SNP 13 A A 27053767 27053767 WashU KRTAP13-3 337960 genome.wustl.edu GRCh37 21 31797972 31797972 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390690.2:c.259A>C p.Met87Leu p.M87L ENST00000390690 NM_181622.1 87 Atg/Ctg 0 Missense_Mutation T 51 KRTAP13-3 SNP 21 T G 30719843 30719843 WashU IQCC 55721 genome.wustl.edu GRCh37 1 32671824 32671824 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000537469.1:c.352C>G p.Arg118Gly p.R118G ENST00000537469 NM_001160042.1 118 Cga/Gga 0 Missense_Mutation C 19 IQCC SNP 1 C G 32444411 32444411 WashU SYNGAP1 8831 genome.wustl.edu GRCh37 6 33410706 33410706 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000418600.2:c.2377A>T p.Lys793Ter p.K793* ENST00000418600 NM_006772.2 793 Aag/Tag 0 Nonsense_Mutation A 1 SYNGAP1 SNP 6 A T 33518684 33518684 WashU ATP5O 539 genome.wustl.edu GRCh37 21 35284601 35284601 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000290299.2:c.190A>G p.Arg64Gly p.R64G ENST00000290299 NM_001697.2 64 Aga/Gga 0 Missense_Mutation T 54 ATP5O SNP 21 T C 34206471 34206471 WashU C6orf106 64771 genome.wustl.edu GRCh37 6 34574605 34574605 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374023.3:c.588G>T p.Thr196= p.T196= ENST00000374023 NM_024294.2 196 acG/acT 0 Silent C 23 C6orf106 SNP 6 C A 34682583 34682583 WashU UHRF1BP1 54887 genome.wustl.edu GRCh37 6 34826094 34826094 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000192788.5:c.1961T>A p.Val654Asp p.V654D ENST00000192788 NM_017754.3 654 gTt/gAt 0 Missense_Mutation T 60 UHRF1BP1 SNP 6 T A 34934072 34934072 WashU ERG 2078 genome.wustl.edu GRCh37 21 39755800 39755800 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000288319.7:c.965C>T p.Ser322Leu p.S322L ENST00000288319 NM_182918.3 322 tCg/tTg 0 Missense_Mutation G 37 ERG SNP 21 G A 38677670 38677670 WashU ELL3 80237 genome.wustl.edu GRCh37 15 44066460 44066460 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319359.3:c.958C>T p.Arg320Cys p.R320C ENST00000319359 NM_025165.2 320 Cgt/Tgt 0 Missense_Mutation G 39 ELL3 SNP 15 A A 41853752 41853752 WashU ADAMTS20 80070 genome.wustl.edu GRCh37 12 43846438 43846438 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389420.3:c.1821T>C p.Thr607= p.T607= ENST00000389420 NM_025003.3 607 acT/acC 0 Silent A 7 ADAMTS20 SNP 12 A G 42132705 42132705 WashU FCGBP 8857 genome.wustl.edu GRCh37 19 40354481 40354481 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000221347.6:c.15988G>A p.Val5330Met p.V5330M ENST00000221347 NM_003890.2 5330 Gtg/Atg 0 Missense_Mutation C 19 FCGBP SNP 19 C T 45046321 45046321 WashU GABPB1 2553 genome.wustl.edu GRCh37 15 50596256 50596257 + missense_variant Missense_Mutation DNP AC AC TA novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 AC AC TA TA AC AC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000220429.8:c.182_183delinsTA p.Gly61Val p.G61V ENST00000220429 61 gGT/gTA 0 Missense AC 6 GABPB1 DNP 15 TA TA 48383549 48383548 WashU KRT6A 3853 genome.wustl.edu GRCh37 12 52886881 52886881 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330722.6:c.92C>G p.Ser31Cys p.S31C ENST00000330722 NM_005554.3 31 tCt/tGt 0 Missense_Mutation G 33 KRT6A SNP 12 G C 51173148 51173148 WashU MAMSTR 284358 genome.wustl.edu GRCh37 19 49216573 49216573 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318083.6:c.1199C>T p.Ser400Phe p.S400F ENST00000318083 400 tCt/tTt 0 Missense_Mutation G 33 MAMSTR SNP 19 G A 53908385 53908385 WashU MLIP 90523 genome.wustl.edu GRCh37 6 54095609 54095609 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274897.5:c.1211C>T p.Ser404Leu p.S404L ENST00000274897 NM_138569.2 404 tCa/tTa 0 Missense_Mutation C 29 C6orf142 SNP 6 C T 54203568 54203568 WashU SMG8 55181 genome.wustl.edu GRCh37 17 57288520 57288520 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000543872.2:c.1108C>T p.Pro370Ser p.P370S ENST00000543872 370 Cct/Tct 0 Missense_Mutation C 26 C17orf71 SNP 17 C T 54643302 54643302 WashU EXOC5 10640 genome.wustl.edu GRCh37 14 57698435 57698435 + splice_acceptor_variant Splice_Site SNP T T C novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000413566.2:c.939-2A>G p.X313_splice ENST00000413566 NM_006544.3 0 Splice_Site_SNP T 56 EXOC5 SNP 14 T C 56768188 56768188 WashU PXK 54899 genome.wustl.edu GRCh37 3 58368240 58368240 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356151.2:c.202-1G>T p.X68_splice ENST00000356151 NM_017771.3 0 Splice_Site_SNP G 33 PXK SNP 3 G T 58343280 58343280 WashU ETAA1 54465 genome.wustl.edu GRCh37 2 67631678 67631678 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272342.5:c.1864C>G p.Gln622Glu p.Q622E ENST00000272342 NM_019002.3 622 Cag/Gag 0 Missense_Mutation C 29 ETAA1 SNP 2 C G 67485182 67485182 WashU CABS1 85438 genome.wustl.edu GRCh37 4 71201818 71201818 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273936.5:c.1062G>C p.Lys354Asn p.K354N ENST00000273936 NM_033122.3 354 aaG/aaC 0 Missense_Mutation G 33 C4orf35 SNP 4 G C 71236407 71236407 WashU ELN 2006 genome.wustl.edu GRCh37 7 73474510 73474510 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000252034.7:c.1617G>A p.Gln539= p.Q539= ENST00000252034 NM_000501.3 539 caG/caA 0 Missense_Mutation G 34 ELN SNP 7 G A 73112446 73112446 WashU RNF213 57674 genome.wustl.edu GRCh37 17 78349654 78349654 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000582970.1:c.13169T>A p.Leu4390His p.L4390H ENST00000582970 NM_001256071.1 4390 cTc/cAc 0 Missense_Mutation T 54 RNF213 SNP 17 T A 75964249 75964249 WashU MAGI2 9863 genome.wustl.edu GRCh37 7 77885426 77885426 + synonymous_variant Silent SNP C C G novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354212.4:c.1881G>C p.Arg627= p.R627= ENST00000354212 NM_012301.3 627 cgG/cgC 0 Silent C 22 MAGI2 SNP 7 C G 77723362 77723362 WashU ZFHX4 79776 genome.wustl.edu GRCh37 8 77763741 77763741 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000521891.2:c.4584T>A p.Asn1528Lys p.N1528K ENST00000521891 NM_024721.4 1528 aaT/aaA 0 Missense_Mutation T 52 ZFHX4 SNP 8 T A 77926296 77926296 WashU DLG5 9231 genome.wustl.edu GRCh37 10 79576319 79576319 + synonymous_variant Silent SNP T T G novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372391.2:c.4015A>C p.Arg1339= p.R1339= ENST00000372391 NM_004747.3 1339 Aga/Cga 0 Silent T 54 DLG5 SNP 10 T G 79246325 79246325 WashU SPATA31D5P 347127 genome.wustl.edu GRCh37 9 84532456 84532456 + non_coding_transcript_exon_variant RNA SNP T T G novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000527857.1:n.2478T>G *826* ENST00000527857 0 Missense_Mutation T 55 ENSG00000204562 SNP 9 G G 83722276 83722276 WashU PSKH2 85481 genome.wustl.edu GRCh37 8 87076291 87076291 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276616.2:c.755C>A p.Thr252Lys p.T252K ENST00000276616 NM_033126.1 252 aCa/aAa 0 Missense_Mutation G 48 PSKH2 SNP 8 G T 87145407 87145407 WashU HERC5 51191 genome.wustl.edu GRCh37 4 89407376 89407376 + synonymous_variant Silent SNP T T C novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264350.3:c.1848T>C p.Thr616= p.T616= ENST00000264350 NM_016323.3 616 acT/acC 0 Silent T 55 HERC5 SNP 4 C C 89626399 89626399 WashU CDH17 1015 genome.wustl.edu GRCh37 8 95172294 95172294 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000027335.3:c.1456A>G p.Lys486Glu p.K486E ENST00000027335 NM_004063.3 486 Aaa/Gaa 0 Missense_Mutation T 61 CDH17 SNP 8 T C 95241470 95241470 WashU AHNAK2 113146 genome.wustl.edu GRCh37 14 105411723 105411723 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333244.5:c.10065C>A p.Asp3355Glu p.D3355E ENST00000333244 NM_138420.2 3355 gaC/gaA 0 Missense_Mutation G 44 AHNAK2 SNP 14 G T 104482768 104482768 WashU DPYS 1807 genome.wustl.edu GRCh37 8 105459698 105459698 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000351513.2:c.457A>G p.Lys153Glu p.K153E ENST00000351513 NM_001385.2 153 Aaa/Gaa 0 Missense_Mutation T 61 DPYS SNP 8 T C 105528874 105528874 WashU LAMB1 3912 genome.wustl.edu GRCh37 7 107592639 107592639 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000222399.6:c.3109C>A p.Gln1037Lys p.Q1037K ENST00000222399 NM_002291.2 1037 Caa/Aaa 0 Missense_Mutation G 46 LAMB1 SNP 7 G T 107379875 107379875 WashU ALPK1 80216 genome.wustl.edu GRCh37 4 113352162 113352162 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000458497.1:c.1459G>A p.Gly487Arg p.G487R ENST00000458497 NM_001102406.1 487 Gga/Aga 0 Missense_Mutation G 35 ALPK1 SNP 4 A A 113571611 113571611 WashU FLI1 2313 genome.wustl.edu GRCh37 11 128680373 128680373 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000527786.2:c.849G>A p.Leu283= p.L283= ENST00000527786 NM_001271010.1 283 ctG/ctA 0 Silent G 48 FLI1 SNP 11 G A 128185583 128185583 WashU OC90 729330 genome.wustl.edu GRCh37 8 133045304 133045304 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000254627.3:c.841G>T p.Glu281Ter p.E281* ENST00000254627 NM_001080399.2 281 Gag/Tag 0 Nonsense_Mutation C 29 OC90 SNP 8 C A 133114486 133114486 WashU GPR112 139378 genome.wustl.edu GRCh37 X 135427511 135427511 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394143.1:c.1646C>T p.Ser549Leu p.S549L ENST00000394143 NM_153834.3 549 tCg/tTg 0 Missense_Mutation C 31 GPR112 SNP 23 T T 135255177 135255177 WashU DENND2A 27147 genome.wustl.edu GRCh37 7 140244461 140244461 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000275884.6:c.2284C>A p.Leu762Met p.L762M ENST00000275884 762 Ctg/Atg 0 Missense_Mutation G 35 DENND2A SNP 7 G T 139890930 139890930 WashU PCDHB9 56127 genome.wustl.edu GRCh37 5 140567370 140567370 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316105.4:n.478C>A *160* ENST00000316105 0 Missense_Mutation C 30 PCDHB9 SNP 5 C A 140547554 140547554 WashU ATP10B 23120 genome.wustl.edu GRCh37 5 160047637 160047637 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327245.5:c.2133C>T p.Ala711= p.A711= ENST00000327245 NM_025153.2 711 gcC/gcT 0 Silent G 47 ATP10B SNP 5 A A 159980215 159980215 WashU LAMC1 3915 genome.wustl.edu GRCh37 1 183093869 183093869 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258341.4:c.2505T>A p.Asp835Glu p.D835E ENST00000258341 NM_002293.3 835 gaT/gaA 0 Missense_Mutation T 50 LAMC1 SNP 1 T A 181360492 181360492 WashU MTNR1A 4543 genome.wustl.edu GRCh37 4 187455308 187455308 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307161.5:c.588C>A p.Phe196Leu p.F196L ENST00000307161 NM_005958.3 196 ttC/ttA 0 Missense_Mutation G 41 MTNR1A SNP 4 T T 187692302 187692302 WashU PAK2 5062 genome.wustl.edu GRCh37 3 196509539 196509539 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327134.3:c.22G>A p.Glu8Lys p.E8K ENST00000327134 NM_002577.4 8 Gaa/Aaa 0 Missense_Mutation G 41 PAK2 SNP 3 G A 197993936 197993936 WashU PLD5 200150 genome.wustl.edu GRCh37 1 242287855 242287855 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000536534.2:c.848G>T p.Trp283Leu p.W283L ENST00000536534 283 tGg/tTg 0 Missense_Mutation C 21 PLD5 SNP 1 C A 240354478 240354478 WashU SLC12A3 6559 genome.wustl.edu GRCh37 16 56914076 56914076 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000438926.2:c.1478G>T p.Gly493Val p.G493V ENST00000438926 NM_001126108.1 493 gGc/gTc 0 Missense_Mutation G 42 SLC12A3 SNP 16 T T 55471577 55471577 WashU ZFHX3 463 genome.wustl.edu GRCh37 16 72821881 72821881 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1336-01 TCGA-04-1336-11 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268489.5:c.10294T>A p.Ser3432Thr p.S3432T ENST00000268489 NM_006885.3 3432 Tcc/Acc 0 Missense_Mutation A 10 ZFHX3 SNP 16 T T 71379382 71379382 WashU KIFC2 90990 genome.wustl.edu GRCh37 8 145692653 145692653 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000301332.2:c.398G>A p.Ser133Asn p.S133N ENST00000301332 NM_145754.2 133 aGc/aAc 0 Missense_Mutation G 34 KIFC2 SNP 8 G A 145663461 145663461 WashU ASTN1 460 genome.wustl.edu GRCh37 1 176915067 176915082 + frameshift_variant Frame_Shift_Del DEL TGTTCCTTTCAGCACC TGTTCCTTTCAGCACC - Unknown TCGA-04-1336-01 TCGA-04-1336-11 TGTTCCTTTCAGCACC TGTTCCTTTCAGCACC TGTTCCTTTCAGCACC - TGTTCCTTTCAGCACC TGTTCCTTTCAGCACC Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000361833.2:c.2229_2244del p.Gln743HisfsTer11 p.Q743Hfs*11 ENST00000361833 743 caGGTGCTGAAAGGAACA/ca 0 Frame_Shift_Del TGTTCCTTTCAGCACC 51 ASTN1 DEL 1 TGTTCCTTTCAGCACC - 175181705 175181690 WashU SFPQ 6421 genome.wustl.edu GRCh37 1 35654799 35654807 + inframe_deletion In_Frame_Del DEL GATTTGCCT GATTTGCCT - Unknown TCGA-04-1336-01 TCGA-04-1336-11 GATTTGCCT GATTTGCCT GATTTGCCT - GATTTGCCT GATTTGCCT Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000357214.5:c.1592_1600del p.Gln531_Asn533del p.Q531_N533del ENST00000357214 NM_005066.2 531 cAGGCAAATCtt/ctt 0 In_Frame_Del GATTTGCCT 33 SFPQ DEL 1 GATTTGCCT - 35427394 35427386 WashU SLC1A2 6506 genome.wustl.edu GRCh37 11 35308473 35308479 + frameshift_variant Frame_Shift_Del DEL GAAAGGT GAAAGGT - Unknown TCGA-04-1336-01 TCGA-04-1336-11 GAAAGGT GAAAGGT GAAAGGT - GAAAGGT GAAAGGT Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000278379.3:c.1111_1117del p.Thr371ValfsTer13 p.T371Vfs*13 ENST00000278379 NM_004171.3 371 ACCTTTCgt/gt 0 Frame_Shift_Del GAAAGGT 37 SLC1A2 DEL 11 GAAAGGT - 35265055 35265049 WashU SHROOM3 57619 genome.wustl.edu GRCh37 4 77661181 77661190 + frameshift_variant Frame_Shift_Del DEL TCTTCCAGGC TCTTCCAGGC - Unknown TCGA-04-1336-01 TCGA-04-1336-11 TCTTCCAGGC TCTTCCAGGC TCTTCCAGGC - TCTTCCAGGC TCTTCCAGGC Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000296043.6:c.1858_1867del p.Ser620GlnfsTer25 p.S620Qfs*25 ENST00000296043 NM_020859.3 619 TCTTCCAGGCtc/tc 0 Frame_Shift_Del TCTTCCAGGC 50 SHROOM3 DEL 4 TCTTCCAGGC - 77880214 77880205 WashU CSMD1 64478 genome.wustl.edu GRCh37 8 2876120 2876124 + frameshift_variant Frame_Shift_Del DEL CGTTC CGTTC - Unknown TCGA-04-1336-01 TCGA-04-1336-11 CGTTC CGTTC CGTTC - CGTTC CGTTC Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000537824.1:c.7904_7908del p.Gly2635ValfsTer56 p.G2635Vfs*56 ENST00000537824 NM_033225.5 2635 gGAACG/g 0 Frame_Shift_Del CGTTC 19 CSMD1 DEL 8 CGTTC - 2863531 2863527 WashU MYO19 80179 genome.wustl.edu GRCh37 17 34883526 34883526 + synonymous_variant Silent SNP C C A Unknown TCGA-04-1336-01 TCGA-04-1336-11 C C C A C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000431794.3:c.156G>T p.Leu52= p.L52= ENST00000431794 NM_001163735.1 52 ctG/ctT 0 Silent C 29 MYO19 SNP 17 C A 31957639 31957639 WashU MYT1 4661 genome.wustl.edu GRCh37 20 62871745 62871745 + missense_variant Missense_Mutation SNP G G C Unknown TCGA-04-1336-01 TCGA-04-1336-11 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000328439.1:c.3310G>C p.Glu1104Gln p.E1104Q ENST00000328439 NM_004535.2 1104 Gag/Cag 0 Missense_Mutation G 41 MYT1 SNP 20 G C 62342189 62342189 WashU ACY1 95 hgsc.bcm.edu GRCh37 3 52020493 52020494 + frameshift_variant Frame_Shift_Ins INS - - TG novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000404366.2:c.500_501dup p.Arg168Ter p.R168* ENST00000404366 NM_000666.2 167 ctg/cTGtg 0 Frame_Shift_Ins - 24 ACY1 INS 3 - TG 51995534 51995533 Baylor AMBRA1 55626 hgsc.bcm.edu GRCh37 11 46439541 46439541 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000314845.3:c.2768C>G p.Ser923Cys p.S923C ENST00000314845 NM_017749.3 923 tCt/tGt 0 Missense_Mutation G 33 AMBRA1 SNP 11 G C 46396117 46396117 Baylor ANKRD24 170961 hgsc.bcm.edu GRCh37 19 4210079 4210079 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000600132.1:c.895del p.Gln299ArgfsTer29 p.Q299Rfs*29 ENST00000600132 NM_133475.1 299 Cag/ag 0 Frame_Shift_Del C 25 ANKRD24 DEL 19 C - 4161079 4161079 Baylor ASB12 142689 hgsc.bcm.edu GRCh37 X 63444290 63444290 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000362002.2:c.882G>T p.Gln294His p.Q294H ENST00000362002 NM_130388.3 294 caG/caT 0 Missense_Mutation C 24 ASB12 SNP 23 C A 63361015 63361015 Baylor ATP4A 495 hgsc.bcm.edu GRCh37 19 36046068 36046068 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262623.3:c.2326G>A p.Gly776Ser p.G776S ENST00000262623 NM_000704.2 776 Ggt/Agt 0 Missense_Mutation C 22 ATP4A SNP 19 C T 40737908 40737908 Baylor C2CD3 26005 hgsc.bcm.edu GRCh37 11 73789396 73789396 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000313663.7:c.4367A>C p.Glu1456Ala p.E1456A ENST00000313663 NM_015531.4 1456 gAa/gCa 0 Missense_Mutation T 62 C2CD3 SNP 11 T G 73467044 73467044 Baylor CAMK4 814 hgsc.bcm.edu GRCh37 5 110819911 110819911 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000282356.4:c.1169C>T p.Ala390Val p.A390V ENST00000282356 NM_001744.4 390 gCa/gTa 0 Missense_Mutation C 25 CAMK4 SNP 5 C T 110847810 110847810 Baylor CAPN12 147968 hgsc.bcm.edu GRCh37 19 39234612 39234612 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328867.4:c.194C>T p.Pro65Leu p.P65L ENST00000328867 NM_144691.3 65 cCg/cTg 0 Missense_Mutation G 39 CAPN12 SNP 19 G A 43926452 43926452 Baylor CDH24 64403 hgsc.bcm.edu GRCh37 14 23518878 23518878 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397359.3:c.1669C>G p.Pro557Ala p.P557A ENST00000397359 NM_022478.3 557 Cct/Gct 0 Missense_Mutation G 41 CDH24 SNP 14 G C 22588718 22588718 Baylor CHD6 84181 hgsc.bcm.edu GRCh37 20 40084604 40084604 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373233.3:c.2845A>G p.Lys949Glu p.K949E ENST00000373233 NM_032221.4 949 Aaa/Gaa 0 Missense_Mutation T 64 CHD6 SNP 20 T C 39518018 39518018 Baylor CHRNB1 1140 hgsc.bcm.edu GRCh37 17 7358671 7358671 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000306071.2:c.1113G>A p.Pro371= p.P371= ENST00000306071 NM_000747.2 371 ccG/ccA 0 Silent G 39 CHRNB1 SNP 17 G A 7299395 7299395 Baylor DIP2A 23181 hgsc.bcm.edu GRCh37 21 47961767 47961767 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000417564.2:c.2135C>T p.Ser712Leu p.S712L ENST00000417564 712 tCa/tTa 0 Missense_Mutation C 29 DIP2A SNP 21 C T 46786195 46786195 Baylor DPF3 8110 hgsc.bcm.edu GRCh37 14 73220034 73220034 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000541685.1:c.239G>A p.Arg80His p.R80H ENST00000541685 NM_012074.4 80 cGc/cAc 0 Missense_Mutation C 27 DPF3 SNP 14 C T 72289787 72289787 Baylor DYNC2H1 79659 hgsc.bcm.edu GRCh37 11 103058111 103058111 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000398093.3:c.6936A>C p.Gln2312His p.Q2312H ENST00000398093 2312 caA/caC 0 Missense_Mutation A 1 DYNC2H1 SNP 11 A C 102563321 102563321 Baylor DYX1C1 161582 hgsc.bcm.edu GRCh37 15 55722919 55722919 + synonymous_variant Silent SNP A A T novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000321149.3:c.1212T>A p.Ile404= p.I404= ENST00000321149 NM_130810.3 404 atT/atA 0 Nonsense_Mutation A 5 DYX1C1 SNP 15 A T 53510211 53510211 Baylor E2F7 144455 hgsc.bcm.edu GRCh37 12 77444416 77444416 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000322886.7:c.478A>C p.Ser160Arg p.S160R ENST00000322886 NM_203394.2 160 Agt/Cgt 0 Missense_Mutation T 56 E2F7 SNP 12 T G 75968547 75968547 Baylor EXTL3 2137 hgsc.bcm.edu GRCh37 8 28575717 28575717 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000220562.4:c.2141C>A p.Pro714His p.P714H ENST00000220562 NM_001440.3 714 cCc/cAc 0 Missense_Mutation C 22 EXTL3 SNP 8 C A 28631636 28631636 Baylor FAM151B 167555 hgsc.bcm.edu GRCh37 5 79815645 79815645 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000282226.4:c.451T>G p.Leu151Val p.L151V ENST00000282226 NM_205548.2 151 Tta/Gta 0 Missense_Mutation T 64 FAM151B SNP 5 T G 79851401 79851401 Baylor FMNL3 91010 hgsc.bcm.edu GRCh37 12 50047597 50047597 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000335154.5:c.1132G>A p.Val378Met p.V378M ENST00000335154 NM_175736.4 378 Gtg/Atg 0 Missense_Mutation C 19 FMNL3 SNP 12 C T 48333864 48333864 Baylor GCN1L1 10985 hgsc.bcm.edu GRCh37 12 120621448 120621448 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000300648.6:c.350T>G p.Leu117Trp p.L117W ENST00000300648 NM_006836.1 117 tTg/tGg 0 Missense_Mutation A 5 GCN1L1 SNP 12 A C 119105831 119105831 Baylor HHATL 57467 hgsc.bcm.edu GRCh37 3 42734605 42734605 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000441594.1:c.1354T>C p.Phe452Leu p.F452L ENST00000441594 NM_020707.3 452 Ttc/Ctc 0 Missense_Mutation A 4 HHATL SNP 3 A G 42709609 42709609 Baylor HIST1H3G 8355 hgsc.bcm.edu GRCh37 6 26271323 26271323 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000305910.3:c.290G>T p.Cys97Phe p.C97F ENST00000305910 NM_003534.2 97 tGc/tTc 0 Missense_Mutation C 25 HIST1H3G SNP 6 C A 26379302 26379302 Baylor KDM8 79831 hgsc.bcm.edu GRCh37 16 27221505 27221505 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000441782.2:c.175G>T p.Ala59Ser p.A59S ENST00000441782 NM_001145348.1 59 Gcc/Tcc 0 Missense_Mutation G 42 JMJD5 SNP 16 G T 27129006 27129006 Baylor KRTAP27-1 643812 hgsc.bcm.edu GRCh37 21 31709440 31709440 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000382835.2:c.547C>T p.Pro183Ser p.P183S ENST00000382835 NM_001077711.1 183 Cca/Tca 0 Missense_Mutation G 42 KRTAP27-1 SNP 21 G A 30631311 30631311 Baylor LIN9 286826 hgsc.bcm.edu GRCh37 1 226496877 226496878 + inframe_insertion In_Frame_Ins INS - - TGC novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328205.5:c.11_12insGCA p.Gly4_Gly5insHis p.G4_G5insH ENST00000328205 NM_173083.3 4 ggc/ggGCAc 0 In_Frame_Ins - 38 LIN9 INS 1 - TGC 224563501 224563500 Baylor MKX 283078 hgsc.bcm.edu GRCh37 10 27964271 27964271 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375790.5:c.946A>G p.Asn316Asp p.N316D ENST00000375790 316 Aat/Gat 0 Missense_Mutation T 64 MKX SNP 10 T C 28004277 28004277 Baylor MOGAT1 116255 hgsc.bcm.edu GRCh37 2 223553194 223553195 + frameshift_variant Frame_Shift_Del DEL AA AA - novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 AA AA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000446656.3:c.229_230del p.Asn77LeufsTer8 p.N77Lfs*8 ENST00000446656 NM_058165.2 76 AAa/a 0 Frame_Shift_Del AA 5 MOGAT1 DEL 2 AA - 223261439 223261438 Baylor MUC6 4588 hgsc.bcm.edu GRCh37 11 1016041 1016042 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000421673.2:c.6759dup p.Thr2254AspfsTer120 p.T2254Dfs*120 ENST00000421673 NM_005961.2 2253 -/G 0 Frame_Shift_Ins - 58 MUC6 INS 11 - C 1006042 1006041 Baylor MYO7B 4648 hgsc.bcm.edu GRCh37 2 128393337 128393337 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000428314.1:c.5783G>A p.Arg1928Gln p.R1928Q ENST00000428314 NM_001080527.1 1928 cGg/cAg 0 Missense_Mutation G 39 MYO7B SNP 2 G A 128109807 128109807 Baylor NBEAL2 23218 hgsc.bcm.edu GRCh37 3 47047699 47047699 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000450053.3:c.6964G>T p.Ala2322Ser p.A2322S ENST00000450053 NM_015175.2 2322 Gct/Tct 0 Missense_Mutation G 42 NBEAL2 SNP 3 G T 47022703 47022703 Baylor NMUR2 56923 hgsc.bcm.edu GRCh37 5 151784128 151784128 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000255262.3:c.547A>T p.Ser183Cys p.S183C ENST00000255262 NM_020167.4 183 Agc/Tgc 0 Missense_Mutation T 55 NMUR2 SNP 5 T A 151764321 151764321 Baylor TENM2 57451 hgsc.bcm.edu GRCh37 5 167689432 167689432 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000518659.1:c.7943del p.Asn2648ThrfsTer2 p.N2648Tfs*2 ENST00000518659 NM_001122679.1 2648 Aac/ac 0 Frame_Shift_Del A 9 ODZ2 DEL 5 A - 167622010 167622010 Baylor OR8B4 283162 hgsc.bcm.edu GRCh37 11 124294128 124294128 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356130.3:c.640G>T p.Val214Phe p.V214F ENST00000356130 NM_001005196.1 214 Gtc/Ttc 0 Missense_Mutation C 19 OR8B4 SNP 11 C A 123799338 123799338 Baylor PGAP1 80055 hgsc.bcm.edu GRCh37 2 197737199 197737199 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354764.4:c.1694T>G p.Phe565Cys p.F565C ENST00000354764 NM_024989.3 565 tTt/tGt 0 Missense_Mutation A 1 PGAP1 SNP 2 A C 197445444 197445444 Baylor PITX2 5308 hgsc.bcm.edu GRCh37 4 111554153 111554153 + start_lost Translation_Start_Site SNP A A C novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354925.2:c.2T>G p.Met1? p.M1? ENST00000354925 NM_001204397.1 1 aTg/aGg 0 Missense_Mutation A 8 PITX2 SNP 4 A C 111773602 111773602 Baylor PPP2R4 5524 hgsc.bcm.edu GRCh37 9 131891295 131891295 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000393370.2:c.248C>T p.Thr83Met p.T83M ENST00000393370 NM_178000.2 83 aCg/aTg 0 Missense_Mutation C 19 PPP2R4 SNP 9 C T 130931116 130931116 Baylor PSMC4 5704 hgsc.bcm.edu GRCh37 19 40485749 40485749 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000157812.2:c.699G>A p.Ser233= p.S233= ENST00000157812 NM_006503.3 233 tcG/tcA 0 Silent G 39 PSMC4 SNP 19 G A 45177589 45177589 Baylor PTPRC 5788 hgsc.bcm.edu GRCh37 1 198685843 198685847 + frameshift_variant Frame_Shift_Del DEL ATCAA ATCAA - novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 ATCAA ATCAA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000442510.2:c.1326_1330del p.Lys443Ter p.K443* ENST00000442510 442 ATCAAa/a 0 Frame_Shift_Del ATCAA 12 PTPRC DEL 1 ATCAA - 196952470 196952466 Baylor PTPRD 5789 hgsc.bcm.edu GRCh37 9 8471015 8471015 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000356435.5:c.3484G>A p.Asp1162Asn p.D1162N ENST00000356435 1162 Gat/Aat 0 Missense_Mutation C 32 PTPRD SNP 9 C T 8461015 8461015 Baylor SCG5 6447 hgsc.bcm.edu GRCh37 15 32988782 32988782 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000300175.4:c.611T>C p.Phe204Ser p.F204S ENST00000300175 NM_001144757.1 204 tTt/tCt 0 Missense_Mutation T 64 SCG5 SNP 15 T C 30776074 30776074 Baylor SIGLEC7 27036 hgsc.bcm.edu GRCh37 19 51649123 51649123 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000317643.6:c.772C>T p.Leu258= p.L258= ENST00000317643 NM_014385.3 258 Ctg/Ttg 0 Silent C 32 SIGLEC7 SNP 19 C T 56340935 56340935 Baylor SPATA21 374955 hgsc.bcm.edu GRCh37 1 16736125 16736125 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000335496.1:c.558C>T p.Ser186= p.S186= ENST00000335496 NM_198546.1 186 agC/agT 0 Silent G 38 SPATA21 SNP 1 G A 16608712 16608712 Baylor STAG3 10734 hgsc.bcm.edu GRCh37 7 99779729 99779729 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000426455.1:c.133T>C p.Leu45= p.L45= ENST00000426455 NM_001282716.1 45 Tta/Cta 0 Silent T 60 STAG3 SNP 7 T C 99617665 99617665 Baylor TAF6L 10629 hgsc.bcm.edu GRCh37 11 62543286 62543286 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000294168.3:c.31G>A p.Glu11Lys p.E11K ENST00000294168 NM_006473.3 11 Gag/Aag 0 Missense_Mutation G 41 TAF6L SNP 11 G A 62299862 62299862 Baylor TBCD 6904 hgsc.bcm.edu GRCh37 17 80890559 80890559 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355528.4:c.3139C>G p.Leu1047Val p.L1047V ENST00000355528 NM_005993.4 1047 Ctg/Gtg 0 Missense_Mutation C 28 TBCD SNP 17 C G 78483848 78483848 Baylor TFAP4 7023 hgsc.bcm.edu GRCh37 16 4312652 4312652 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000204517.6:c.140G>A p.Arg47Gln p.R47Q ENST00000204517 NM_003223.2 47 cGg/cAg 0 Missense_Mutation C 23 TFAP4 SNP 16 C T 4252653 4252653 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577548 7577548 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269305.4:c.733G>T p.Gly245Cys p.G245C ENST00000269305 NM_001126112.2 245 Ggc/Tgc 0 Missense_Mutation C 23 TP53 SNP 17 C A 7518273 7518273 Baylor TTK 7272 hgsc.bcm.edu GRCh37 6 80751897 80751897 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369798.2:c.2560delA p.Arg854GlyfsTer39 p.R854Gfs*39 ENST00000369798 NM_003318.4 851 gAa/ga 0 Frame_Shift_Del A 9 TTK DEL 6 A - 80808616 80808616 Baylor UTP14A 10813 hgsc.bcm.edu GRCh37 X 129060071 129060071 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000394422.3:c.1926T>A p.Ser642Arg p.S642R ENST00000394422 NM_006649.3 642 agT/agA 0 Missense_Mutation T 59 UTP14A SNP 23 T A 128887752 128887752 Baylor VWF 7450 hgsc.bcm.edu GRCh37 12 6077326 6077326 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261405.5:c.7737G>A p.Met2579Ile p.M2579I ENST00000261405 NM_000552.3 2579 atG/atA 0 Missense_Mutation C 21 VWF SNP 12 C T 5947587 5947587 Baylor WNT16 51384 hgsc.bcm.edu GRCh37 7 120971878 120971879 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000222462.2:c.500dupG p.Cys168LeufsTer4 p.C168Lfs*4 ENST00000222462 NM_057168.1 165 tgg/tGgg 0 Frame_Shift_Ins - 55 WNT16 INS 7 - G 120759115 120759114 Baylor ZNF106 64397 hgsc.bcm.edu GRCh37 15 42734333 42734333 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263805.4:c.3632A>G p.Asn1211Ser p.N1211S ENST00000263805 NM_022473.1 1211 aAt/aGt 0 Missense_Mutation T 52 ZFP106 SNP 15 T C 40521625 40521625 Baylor ZFP36L1 677 hgsc.bcm.edu GRCh37 14 69259623 69259623 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000439696.2:c.33C>T p.Phe11= p.F11= ENST00000439696 NM_004926.3 11 ttC/ttT 0 Silent G 37 ZFP36L1 SNP 14 G A 68329376 68329376 Baylor ZMYND8 23613 hgsc.bcm.edu GRCh37 20 45905083 45905083 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000461685.1:c.1455C>T p.Ser485= p.S485= ENST00000461685 485 tcC/tcT 0 Silent G 47 ZMYND8 SNP 20 G A 45338490 45338490 Baylor ZNF571 51276 hgsc.bcm.edu GRCh37 19 38055894 38055894 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1317-01 TCGA-25-1317-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328550.2:c.1436G>A p.Cys479Tyr p.C479Y ENST00000328550 479 tGt/tAt 0 Missense_Mutation C 17 ZNF571 SNP 19 C T 42747734 42747734 Baylor DNAJC11 55735 broad.mit.edu GRCh37 1 6697389 6697389 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000377577.5:c.1393G>A p.Val465Ile p.V465I ENST00000377577 NM_018198.3 465 Gtc/Atc 0 Missense_Mutation C 19 DNAJC11 SNP 1 C T 6619976 6619976 Broad ALPL 249 broad.mit.edu GRCh37 1 21889702 21889702 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000374840.3:c.397G>A p.Ala133Thr p.A133T ENST00000374840 NM_000478.4 133 Gcc/Acc 0 Missense_Mutation G 34 ALPL SNP 1 G A 21762289 21762289 Broad CCDC28B 79140 broad.mit.edu GRCh37 1 32667627 32667627 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000373602.5:c.91A>C p.Thr31Pro p.T31P ENST00000373602 NM_024296.3 31 Acc/Ccc 0 Missense_Mutation A 14 CCDC28B SNP 1 A C 32440214 32440214 Broad FAM183A 440585 broad.mit.edu GRCh37 1 43621954 43621954 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000335282.4:c.375G>A p.Thr125= p.T125= ENST00000335282 NM_001101376.2 125 acG/acA 0 Silent G 40 FAM183A SNP 1 G A 43394541 43394541 Broad RCOR3 55758 broad.mit.edu GRCh37 1 211486113 211486113 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000419091.2:c.1127A>G p.Asn376Ser p.N376S ENST00000419091 NM_001136223.1 376 aAc/aGc 0 Missense_Mutation A 2 RCOR3 SNP 1 A G 209552736 209552736 Broad USH2A 7399 broad.mit.edu GRCh37 1 215807954 215807954 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000307340.3:c.15144G>A p.Ala5048= p.A5048= ENST00000307340 NM_206933.2 5048 gcG/gcA 0 Silent C 31 USH2A SNP 1 C T 213874577 213874577 Broad MYO3A 53904 broad.mit.edu GRCh37 10 26315321 26315321 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 T G T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265944.5:c.813T>G p.Asp271Glu p.D271E ENST00000265944 NM_017433.4 271 gaT/gaG 0 Missense_Mutation T 52 MYO3A SNP 10 T G 26355327 26355327 Broad UNC5B 219699 broad.mit.edu GRCh37 10 73046530 73046530 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000335350.6:c.637C>T p.Arg213Cys p.R213C ENST00000335350 NM_170744.4 213 Cgc/Tgc 0 Missense_Mutation C 23 UNC5B SNP 10 C T 72716536 72716536 Broad HABP2 3026 broad.mit.edu GRCh37 10 115337862 115337862 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000351270.3:c.526T>G p.Cys176Gly p.C176G ENST00000351270 NM_004132.3 176 Tgt/Ggt 0 Missense_Mutation T 55 HABP2 SNP 10 T G 115327852 115327852 Broad OR51Q1 390061 broad.mit.edu GRCh37 11 5443693 5443693 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000300778.4:c.263G>T p.Trp88Leu p.W88L ENST00000300778 NM_001004757.2 88 tGg/tTg 0 Missense_Mutation G 47 OR51Q1 SNP 11 G T 5400269 5400269 Broad FSHB 2488 broad.mit.edu GRCh37 11 30253521 30253521 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000417547.1:c.72C>A p.Thr24= p.T24= ENST00000417547 NM_001018080.1 24 acC/acA 0 Silent C 21 FSHB SNP 11 C A 30210097 30210097 Broad QSER1 79832 broad.mit.edu GRCh37 11 32955638 32955638 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000399302.2:c.2447G>A p.Ser816Asn p.S816N ENST00000399302 NM_001076786.1 816 aGt/aAt 0 Missense_Mutation G 36 QSER1 SNP 11 G A 32912214 32912214 Broad OR8K1 390157 broad.mit.edu GRCh37 11 56113821 56113821 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000279783.2:c.307T>C p.Tyr103His p.Y103H ENST00000279783 NM_001002907.1 103 Tat/Cat 0 Missense_Mutation T 57 OR8K1 SNP 11 T C 55870397 55870397 Broad DPF2 5977 broad.mit.edu GRCh37 11 65108470 65108470 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000528416.1:c.227C>A p.Ala76Asp p.A76D ENST00000528416 NM_006268.4 76 gCc/gAc 0 Missense_Mutation C 26 DPF2 SNP 11 C A 64865046 64865046 Broad PUS3 83480 broad.mit.edu GRCh37 11 125765156 125765156 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000227474.3:c.907C>A p.Leu303Met p.L303M ENST00000227474 NM_031307.3 303 Ctg/Atg 0 Missense_Mutation G 34 PUS3 SNP 11 G T 125270366 125270366 Broad CCNT1 904 broad.mit.edu GRCh37 12 49087926 49087926 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000261900.3:c.1071T>G p.Leu357= p.L357= ENST00000261900 NM_001240.3 357 ctT/ctG 0 Silent A 13 CCNT1 SNP 12 A C 47374193 47374193 Broad DIP2B 57609 broad.mit.edu GRCh37 12 51092138 51092138 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000301180.5:c.2076A>G p.Pro692= p.P692= ENST00000301180 NM_173602.2 692 ccA/ccG 0 Silent A 7 DIP2B SNP 12 A G 49378405 49378405 Broad PAWR 5074 broad.mit.edu GRCh37 12 80083600 80083600 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000328827.4:c.425C>A p.Pro142His p.P142H ENST00000328827 NM_002583.2 142 cCc/cAc 0 Missense_Mutation G 43 PAWR SNP 12 G T 78607731 78607731 Broad LATS2 26524 broad.mit.edu GRCh37 13 21549312 21549312 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000382592.4:c.2964C>A p.Pro988= p.P988= ENST00000382592 NM_014572.2 988 ccC/ccA 0 Silent G 35 LATS2 SNP 13 G T 20447312 20447312 Broad FRY 10129 broad.mit.edu GRCh37 13 32652987 32652987 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000380250.3:c.87C>T p.Asn29= p.N29= ENST00000380250 NM_023037.2 29 aaC/aaT 0 Silent C 19 FRY SNP 13 C T 31550987 31550987 Broad ELMSAN1 91748 broad.mit.edu GRCh37 14 74206288 74206288 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000286523.5:c.424T>G p.Tyr142Asp p.Y142D ENST00000286523 NM_194278.3 142 Tac/Gac 0 Missense_Mutation A 15 C14orf43 SNP 14 A C 73276041 73276041 Broad NTRK3 4916 broad.mit.edu GRCh37 15 88483904 88483904 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000360948.2:c.1666G>T p.Glu556Ter p.E556* ENST00000360948 NM_001012338.2 556 Gag/Tag 0 Nonsense_Mutation C 31 NTRK3 SNP 15 C A 86284908 86284908 Broad CDH8 1006 broad.mit.edu GRCh37 16 61687975 61687975 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000577390.1:c.1937G>A p.Arg646Gln p.R646Q ENST00000577390 NM_001796.4 646 cGg/cAg 0 Missense_Mutation C 23 CDH8 SNP 16 C T 60245476 60245476 Broad ZFHX3 463 broad.mit.edu GRCh37 16 72822537 72822537 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000268489.5:c.9638C>A p.Pro3213Gln p.P3213Q ENST00000268489 NM_006885.3 3213 cCg/cAg 0 Missense_Mutation G 39 ZFHX3 SNP 16 G T 71380038 71380038 Broad ANKRD11 29123 broad.mit.edu GRCh37 16 89351543 89351543 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000301030.4:c.1407C>T p.Phe469= p.F469= ENST00000301030 NM_001256183.1 469 ttC/ttT 0 Silent G 37 ANKRD11 SNP 16 G A 87879044 87879044 Broad TP53 7157 broad.mit.edu GRCh37 17 7577498 7577498 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.782+1G>T p.X261_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 18 TP53 SNP 17 C A 7518223 7518223 Broad ZNF560 147741 broad.mit.edu GRCh37 19 9581977 9581977 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000301480.4:c.316C>T p.Gln106Ter p.Q106* ENST00000301480 NM_152476.2 106 Caa/Taa 0 Nonsense_Mutation G 48 ZNF560 SNP 19 G A 9442977 9442977 Broad ZNF257 113835 broad.mit.edu GRCh37 19 22271096 22271096 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000594947.1:c.544T>C p.Phe182Leu p.F182L ENST00000594947 NM_033468.2 182 Ttt/Ctt 0 Missense_Mutation T 52 ZNF257 SNP 19 T C 22062936 22062936 Broad FAM83E 54854 broad.mit.edu GRCh37 19 49116423 49116423 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000263266.3:c.207G>A p.Ala69= p.A69= ENST00000263266 NM_017708.3 69 gcG/gcA 0 Silent C 23 FAM83E SNP 19 C T 53808235 53808235 Broad ZSWIM2 151112 broad.mit.edu GRCh37 2 187713716 187713716 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000295131.2:c.142G>T p.Glu48Ter p.E48* ENST00000295131 NM_182521.2 48 Gag/Tag 0 Nonsense_Mutation C 30 ZSWIM2 SNP 2 C A 187421961 187421961 Broad COL4A3 1285 broad.mit.edu GRCh37 2 228147165 228147165 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000396578.3:c.2573C>T p.Pro858Leu p.P858L ENST00000396578 NM_000091.4 858 cCa/cTa 0 Missense_Mutation C 21 COL4A3 SNP 2 C T 227855409 227855409 Broad SP100 6672 broad.mit.edu GRCh37 2 231309028 231309028 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000340126.4:c.406G>A p.Asp136Asn p.D136N ENST00000340126 NM_001080391.1 136 Gat/Aat 0 Missense_Mutation G 37 SP100 SNP 2 G A 231017272 231017272 Broad KIF16B 55614 broad.mit.edu GRCh37 20 16496271 16496271 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000408042.1:c.270A>T p.Ala90= p.A90= ENST00000408042 NM_001199866.1 90 gcA/gcT 0 Silent T 51 KIF16B SNP 20 T A 16444271 16444271 Broad PLXNB2 23654 broad.mit.edu GRCh37 22 50720026 50720026 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000449103.1:c.3491G>A p.Arg1164Gln p.R1164Q ENST00000449103 1164 cGa/cAa 0 Missense_Mutation C 31 PLXNB2 SNP 22 C T 49062153 49062153 Broad PLXNB2 23654 broad.mit.edu GRCh37 22 50724253 50724253 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000449103.1:c.2064G>A p.Gln688= p.Q688= ENST00000449103 688 caG/caA 0 Silent C 24 PLXNB2 SNP 22 C T 49066380 49066380 Broad PLXNB2 23654 broad.mit.edu GRCh37 22 50724633 50724633 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000449103.1:c.1846C>A p.Arg616Ser p.R616S ENST00000449103 616 Cgc/Agc 0 Missense_Mutation G 39 PLXNB2 SNP 22 G T 49066760 49066760 Broad BSN 8927 broad.mit.edu GRCh37 3 49680334 49680334 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000296452.4:c.1267G>T p.Gly423Ter p.G423* ENST00000296452 NM_003458.3 423 Gga/Tga 0 Nonsense_Mutation G 47 BSN SNP 3 G T 49655338 49655338 Broad MON1A 84315 broad.mit.edu GRCh37 3 49947955 49947955 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000296473.3:c.1267C>T p.Arg423Cys p.R423C ENST00000296473 NM_032355.3 423 Cgc/Tgc 0 Missense_Mutation G 39 MON1A SNP 3 G A 49922959 49922959 Broad ROPN1 54763 broad.mit.edu GRCh37 3 123695767 123695767 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000184183.4:c.178G>T p.Ala60Ser p.A60S ENST00000184183 NM_017578.2 60 Gct/Tct 0 Missense_Mutation C 27 ROPN1 SNP 3 C A 125178457 125178457 Broad EIF2B5 8893 broad.mit.edu GRCh37 3 183860606 183860606 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000273783.3:c.1586G>C p.Ser529Thr p.S529T ENST00000273783 NM_003907.2 529 aGt/aCt 0 Missense_Mutation G 36 EIF2B5 SNP 3 G C 185343300 185343300 Broad ADH5 128 broad.mit.edu GRCh37 4 99993588 99993588 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000296412.8:c.1105C>T p.Arg369Ter p.R369* ENST00000296412 NM_000671.3 369 Cga/Tga 0 Nonsense_Mutation G 37 ADH5 SNP 4 G A 100212611 100212611 Broad CXXC4 80319 broad.mit.edu GRCh37 4 105412305 105412305 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000394767.2:c.655T>C p.Cys219Arg p.C219R ENST00000394767 NM_025212.2 219 Tgc/Cgc 0 Missense_Mutation A 8 CXXC4 SNP 4 A G 105631754 105631754 Broad CDH6 1004 broad.mit.edu GRCh37 5 31299654 31299654 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265071.2:c.727G>A p.Gly243Ser p.G243S ENST00000265071 NM_004932.3 243 Ggc/Agc 0 Missense_Mutation G 39 CDH6 SNP 5 G A 31335411 31335411 Broad PRLR 5618 broad.mit.edu GRCh37 5 35070322 35070322 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000382002.5:c.589C>T p.His197Tyr p.H197Y ENST00000382002 NM_000949.5 197 Cat/Tat 0 Missense_Mutation G 48 PRLR SNP 5 G A 35106079 35106079 Broad SPZ1 84654 broad.mit.edu GRCh37 5 79617085 79617085 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000296739.4:c.1051G>C p.Glu351Gln p.E351Q ENST00000296739 NM_032567.3 351 Gag/Cag 0 Missense_Mutation G 33 SPZ1 SNP 5 G C 79652841 79652841 Broad GEMIN5 25929 broad.mit.edu GRCh37 5 154278854 154278854 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000285873.7:c.3031G>C p.Ala1011Pro p.A1011P ENST00000285873 NM_001252156.1 1011 Gcc/Ccc 0 Missense_Mutation C 25 GEMIN5 SNP 5 C G 154259047 154259047 Broad RNF145 153830 broad.mit.edu GRCh37 5 158588283 158588283 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000518802.1:c.1707C>T p.Ile569= p.I569= ENST00000518802 NM_001199380.1 569 atC/atT 0 Silent G 33 RNF145 SNP 5 G A 158520861 158520861 Broad MGAT4B 11282 broad.mit.edu GRCh37 5 179228625 179228625 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000337755.5:c.398A>C p.His133Pro p.H133P ENST00000337755 NM_054013.3 133 cAc/cCc 0 Missense_Mutation T 59 MGAT4B SNP 5 T G 179161231 179161231 Broad PGBD1 84547 broad.mit.edu GRCh37 6 28264666 28264666 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000405948.2:c.716G>A p.Arg239Gln p.R239Q ENST00000405948 NM_001184743.1 239 cGg/cAg 0 Missense_Mutation G 39 PGBD1 SNP 6 G A 28372645 28372645 Broad DDO 8528 broad.mit.edu GRCh37 6 110729542 110729542 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000368924.3:c.360A>G p.Val120= p.V120= ENST00000368924 NM_003649.2 120 gtA/gtG 0 Silent T 49 DDO SNP 6 T C 110836235 110836235 Broad KIAA1244 57221 broad.mit.edu GRCh37 6 138655880 138655880 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000251691.4:c.5897G>A p.Arg1966Lys p.R1966K ENST00000251691 NM_020340.4 1966 aGa/aAa 0 Missense_Mutation G 33 KIAA1244 SNP 6 G A 138697573 138697573 Broad PPP1R3A 5506 broad.mit.edu GRCh37 7 113518503 113518503 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000284601.3:c.2644C>A p.Leu882Ile p.L882I ENST00000284601 NM_002711.3 882 Ctt/Att 0 Missense_Mutation G 33 PPP1R3A SNP 7 G T 113305739 113305739 Broad ANK1 286 broad.mit.edu GRCh37 8 41615650 41615650 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265709.8:c.132T>A p.Asp44Glu p.D44E ENST00000265709 NM_001142446.1 44 gaT/gaA 0 Missense_Mutation A 8 ANK1 SNP 8 A T 41734807 41734807 Broad CSMD3 114788 broad.mit.edu GRCh37 8 113392655 113392655 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000297405.5:c.6062C>A p.Thr2021Lys p.T2021K ENST00000297405 NM_198123.1 2021 aCg/aAg 0 Missense_Mutation G 40 CSMD3 SNP 8 G T 113461831 113461831 Broad GPKOW 27238 broad.mit.edu GRCh37 X 48976067 48976067 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown x x x ENST00000156109.5:c.557C>A p.Thr186Asn p.T186N ENST00000156109 NM_015698.4 186 aCc/aAc 0 Missense_Mutation G 44 GPKOW SNP 23 G T 48863011 48863011 Broad BRCC3 79184 broad.mit.edu GRCh37 X 154299902 154299902 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369462.1:c.100G>A p.Val34Ile p.V34I ENST00000369462 NM_024332.3 34 Gta/Ata 0 Missense_Mutation G 36 BRCC3 SNP 23 G A 153953096 153953096 Broad FAM86B2 653333 broad.mit.edu GRCh37 8 12291593 12291595 + inframe_deletion In_Frame_Del DEL CTG CTG - novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000262365.4:c.125_127del p.Ser42_Asp43delinsTyr p.S42_D43delinsY ENST00000262365 NM_001137610.1 42 tCAGat/tat 0 In_Frame_Del CTG 32 FAM86B2 DEL 8 - CTG 12335966 12335964 Broad FUT7 2529 broad.mit.edu GRCh37 9 139925497 139925498 + frameshift_variant Frame_Shift_Del DEL GA GA - novel Unknown TCGA-13-1409-01 TCGA-13-1409-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000314412.6:c.693_694del p.Gln232AlafsTer31 p.Q232Afs*31 ENST00000314412 NM_004479.3 231 tcTCag/tcag 0 Frame_Shift_Del GA 45 FUT7 DEL 9 - - 139045319 139045318 Broad MYT1L 23040 genome.wustl.edu GRCh37 2 1921010 1921010 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000428368.2:c.1579G>C p.Gly527Arg p.G527R ENST00000428368 527 Gga/Cga 0 Missense_Mutation C 23 MYT1L SNP 2 C G 1900017 1900017 WashU ZNF500 26048 genome.wustl.edu GRCh37 16 4812610 4812610 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000219478.6:c.562A>T p.Arg188Trp p.R188W ENST00000219478 188 Agg/Tgg 0 Missense_Mutation T 55 ZNF500 SNP 16 T A 4752611 4752611 WashU OR52E4 390081 genome.wustl.edu GRCh37 11 5905526 5905526 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316987.2:c.4C>T p.Pro2Ser p.P2S ENST00000316987 NM_001005165.1 2 Cct/Tct 0 Missense_Mutation C 26 OR52E4 SNP 11 C T 5862102 5862102 WashU NLRP14 338323 genome.wustl.edu GRCh37 11 7064352 7064352 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299481.4:c.1095G>A p.Met365Ile p.M365I ENST00000299481 NM_176822.3 365 atG/atA 0 Missense_Mutation G 48 NLRP14 SNP 11 G A 7020928 7020928 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577022 7577022 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.916C>T p.Arg306Ter p.R306* ENST00000269305 NM_001126112.2 306 Cga/Tga 0 Nonsense_Mutation G 38 TP53 SNP 17 G A 7517747 7517747 WashU GRIN2A 2903 genome.wustl.edu GRCh37 16 9857785 9857785 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330684.3:c.3616C>T p.Arg1206Ter p.R1206* ENST00000330684 NM_001134407.1 1206 Cga/Tga 0 Nonsense_Mutation G 38 GRIN2A SNP 16 G A 9765286 9765286 WashU GRIN2A 2903 genome.wustl.edu GRCh37 16 9892135 9892135 + splice_region_variant,synonymous_variant Splice_Region SNP A A G novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330684.3:c.2355T>C p.Asp785= p.D785= ENST00000330684 NM_001134407.1 785 gaT/gaC 0 Silent A 8 GRIN2A SNP 16 A G 9799636 9799636 WashU KIF1B 23095 genome.wustl.edu GRCh37 1 10425305 10425305 + splice_donor_variant Splice_Site SNP T T C novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263934.6:c.4374+2T>C p.X1458_splice ENST00000263934 NM_015074.3 0 Splice_Site_SNP T 57 KIF1B SNP 1 T C 10347892 10347892 WashU ECSIT 51295 genome.wustl.edu GRCh37 19 11618353 11618353 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270517.7:c.970T>C p.Trp324Arg p.W324R ENST00000270517 NM_016581.4 324 Tgg/Cgg 0 Missense_Mutation A 6 ECSIT SNP 19 A G 11479353 11479353 WashU SPEN 23013 genome.wustl.edu GRCh37 1 16256441 16256441 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375759.3:c.3706G>C p.Asp1236His p.D1236H ENST00000375759 NM_015001.2 1236 Gat/Cat 0 Missense_Mutation G 45 SPEN SNP 1 G C 16129028 16129028 WashU DBX1 120237 genome.wustl.edu GRCh37 11 20181507 20181507 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000227256.3:c.364A>G p.Thr122Ala p.T122A ENST00000227256 NM_001029865.2 122 Aca/Gca 0 Missense_Mutation T 60 DBX1 SNP 11 T C 20138083 20138083 WashU CYFIP1 23191 genome.wustl.edu GRCh37 15 22929772 22929772 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313077.7:c.446G>A p.Arg149Lys p.R149K ENST00000313077 NM_014608.2 149 aGg/aAg 0 Missense_Mutation G 35 CYFIP1 SNP 15 G A 20481213 20481213 WashU METTL9 51108 genome.wustl.edu GRCh37 16 21629218 21629218 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000358154.3:c.389C>T p.Ser130Leu p.S130L ENST00000358154 NM_016025.3 130 tCa/tTa 0 Missense_Mutation C 29 METTL9 SNP 16 C T 21536719 21536719 WashU CDH12 1010 genome.wustl.edu GRCh37 5 21752321 21752321 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 A A A T A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382254.1:c.1910T>A p.Leu637Gln p.L637Q ENST00000382254 NM_004061.3 637 cTg/cAg 0 Missense_Mutation A 7 CDH12 SNP 5 A T 21788078 21788078 WashU ZNF729 100287226 genome.wustl.edu GRCh37 19 22499326 22499326 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000601693.1:c.3107T>C p.Met1036Thr p.M1036T ENST00000601693 1036 aTg/aCg 0 Missense_Mutation T 51 LOC100130518 SNP 19 T C 22291166 22291166 WashU TNRC6A 27327 genome.wustl.edu GRCh37 16 24801413 24801413 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395799.3:c.1450C>T p.Arg484Cys p.R484C ENST00000395799 NM_014494.2 484 Cgt/Tgt 0 Missense_Mutation C 27 TNRC6A SNP 16 C T 24708914 24708914 WashU NF1 4763 genome.wustl.edu GRCh37 17 29497010 29497010 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358273.4:c.581T>C p.Leu194Pro p.L194P ENST00000358273 NM_001042492.2 194 cTg/cCg 0 Missense_Mutation T 55 NF1 SNP 17 T C 26521136 26521136 WashU ARMC4 55130 genome.wustl.edu GRCh37 10 28228876 28228876 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000305242.5:c.2047A>T p.Asn683Tyr p.N683Y ENST00000305242 NM_018076.2 683 Aat/Tat 0 Missense_Mutation T 64 ARMC4 SNP 10 T A 28268882 28268882 WashU FAM47C 442444 genome.wustl.edu GRCh37 X 37027377 37027377 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358047.3:c.894T>C p.Pro298= p.P298= ENST00000358047 NM_001013736.2 298 ccT/ccC 0 Silent T 54 FAM47C SNP 23 T C 36937298 36937298 WashU LGALS14 56891 genome.wustl.edu GRCh37 19 40199901 40199901 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360675.3:c.455T>C p.Met152Thr p.M152T ENST00000360675 NM_203471.1 152 aTg/aCg 0 Missense_Mutation T 51 LGALS14 SNP 19 C C 44891741 44891741 WashU KANSL2 54934 genome.wustl.edu GRCh37 12 49065713 49065713 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000420613.2:c.578C>T p.Ala193Val p.A193V ENST00000420613 NM_017822.3 193 gCc/gTc 0 Missense_Mutation G 42 C12orf41 SNP 12 G A 47351980 47351980 WashU CIC 23152 genome.wustl.edu GRCh37 19 42795131 42795131 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000575354.2:c.2211C>A p.Ala737= p.A737= ENST00000575354 NM_015125.3 737 gcC/gcA 0 Silent C 21 CIC SNP 19 C A 47486971 47486971 WashU GPR115 221393 genome.wustl.edu GRCh37 6 47682171 47682171 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000283303.2:c.1190C>T p.Thr397Ile p.T397I ENST00000283303 NM_153838.3 397 aCc/aTc 0 Missense_Mutation C 18 GPR115 SNP 6 C T 47790130 47790130 WashU P4HTM 54681 genome.wustl.edu GRCh37 3 49042491 49042491 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343546.4:c.1085C>A p.Pro362His p.P362H ENST00000343546 NM_177938.2 362 cCc/cAc 0 Missense_Mutation C 22 P4HTM SNP 3 C A 49017495 49017495 WashU SERPINE3 647174 genome.wustl.edu GRCh37 13 51921247 51921247 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000521255.1:c.577T>A p.Ser193Thr p.S193T ENST00000521255 NM_001101320.1 193 Tcc/Acc 0 Missense_Mutation T 58 SERPINE3 SNP 13 T A 50819248 50819248 WashU ANKFN1 162282 genome.wustl.edu GRCh37 17 54558087 54558087 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318698.2:c.2008C>A p.His670Asn p.H670N ENST00000318698 NM_153228.2 670 Cat/Aat 0 Missense_Mutation C 29 ANKFN1 SNP 17 C A 51913086 51913086 WashU KDR 3791 genome.wustl.edu GRCh37 4 55971144 55971144 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263923.4:c.1653T>A p.Pro551= p.P551= ENST00000263923 NM_002253.2 551 ccT/ccA 0 Silent A 7 KDR SNP 4 A T 55665901 55665901 WashU CTNND1 1500 genome.wustl.edu GRCh37 11 57573404 57573404 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399050.4:c.1773C>T p.His591= p.H591= ENST00000399050 NM_001085458.1 591 caC/caT 0 Silent C 18 CTNND1 SNP 11 C T 57329980 57329980 WashU ATG4C 84938 genome.wustl.edu GRCh37 1 63329765 63329765 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000317868.4:c.1312C>A p.Leu438Ile p.L438I ENST00000317868 NM_032852.3 438 Ctt/Att 0 Missense_Mutation C 24 ATG4C SNP 1 C A 63102353 63102353 WashU LRIG1 26018 genome.wustl.edu GRCh37 3 66436454 66436454 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273261.3:c.1740C>T p.Thr580= p.T580= ENST00000273261 NM_015541.2 580 acC/acT 0 Silent G 47 LRIG1 SNP 3 G A 66519144 66519144 WashU CTNNA3 29119 genome.wustl.edu GRCh37 10 68940273 68940273 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000433211.2:c.849A>G p.Leu283= p.L283= ENST00000433211 NM_013266.2 283 ttA/ttG 0 Silent T 61 CTNNA3 SNP 10 T C 68610279 68610279 WashU ZNF638 27332 genome.wustl.edu GRCh37 2 71577133 71577133 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000409544.1:c.1049G>A p.Arg350Gln p.R350Q ENST00000409544 NM_001252612.1 350 cGg/cAg 0 Missense_Mutation G 39 ZNF638 SNP 2 G A 71430641 71430641 WashU KIAA2022 340533 genome.wustl.edu GRCh37 X 73963680 73963680 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000055682.6:c.712G>T p.Ala238Ser p.A238S ENST00000055682 NM_001008537.2 238 Gca/Tca 0 Missense_Mutation C 26 KIAA2022 SNP 23 C A 73880405 73880405 WashU MYCBP2 23077 genome.wustl.edu GRCh37 13 77638760 77638760 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000544440.2:c.12548C>G p.Ala4183Gly p.A4183G ENST00000544440 4183 gCa/gGa 0 Missense_Mutation G 46 MYCBP2 SNP 13 G C 76536761 76536761 WashU PRUNE2 158471 genome.wustl.edu GRCh37 9 79322617 79322617 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376718.3:c.4573G>C p.Ala1525Pro p.A1525P ENST00000376718 NM_015225.2 1525 Gcc/Ccc 0 Missense_Mutation C 28 PRUNE2 SNP 9 C G 78512437 78512437 WashU ELTD1 64123 genome.wustl.edu GRCh37 1 79383653 79383653 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370742.3:c.1544T>C p.Leu515Pro p.L515P ENST00000370742 NM_022159.3 515 cTc/cCc 0 Missense_Mutation A 11 ELTD1 SNP 1 A G 79156241 79156241 WashU NTRK3 4916 genome.wustl.edu GRCh37 15 88522597 88522597 + intron_variant Intron SNP G G A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360948.2:c.1586-38613C>T *529* ENST00000360948 NM_001012338.2 0 Silent G 46 NTRK3 SNP 15 G A 86323601 86323601 WashU HSP90AB3P 3327 genome.wustl.edu GRCh37 4 88814923 88814923 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000505987.1:n.1929C>A *643* ENST00000505987 0 Missense_Mutation C 26 HSP90AB3P SNP 4 C A 89033947 89033947 WashU PRKRIP1 79706 genome.wustl.edu GRCh37 7 102040048 102040048 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000496391.1:c.259C>T p.Arg87Trp p.R87W ENST00000496391 87 Cgg/Tgg 0 Missense_Mutation C 23 PRKRIP1 SNP 7 C T 101827053 101827053 WashU ZNF462 58499 genome.wustl.edu GRCh37 9 109689721 109689721 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000277225.5:c.3528G>A p.Leu1176= p.L1176= ENST00000277225 1176 ctG/ctA 0 Silent G 45 ZNF462 SNP 9 G A 108729542 108729542 WashU IL36A 27179 genome.wustl.edu GRCh37 2 113765446 113765446 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000259211.6:c.302C>T p.Pro101Leu p.P101L ENST00000259211 NM_014440.1 101 cCt/cTt 0 Missense_Mutation C 24 IL1F6 SNP 2 C T 113481917 113481917 WashU PVRL1 5818 genome.wustl.edu GRCh37 11 119545333 119545333 + intron_variant Intron SNP C C T novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264025.3:c.1003+536G>A *335* ENST00000264025 NM_002855.4 0 Missense_Mutation C 26 PVRL1 SNP 11 C T 119050543 119050543 WashU TPT1P9 genome.wustl.edu GRCh37 9 120845175 120845175 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000413759.1:n.486C>A *162* ENST00000413759 0 Missense_Mutation G 33 LOC389787 SNP 9 G T 119884996 119884996 WashU PLA1A 51365 genome.wustl.edu GRCh37 3 119343985 119343985 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273371.4:c.1027G>T p.Val343Leu p.V343L ENST00000273371 NM_015900.3 343 Gtg/Ttg 0 Missense_Mutation G 40 PLA1A SNP 3 G T 120826675 120826675 WashU FBN2 2201 genome.wustl.edu GRCh37 5 127854986 127854986 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000508053.1:c.608C>A p.Thr203Asn p.T203N ENST00000508053 203 aCt/aAt 0 Missense_Mutation G 36 FBN2 SNP 5 G T 127882885 127882885 WashU DARS 1615 genome.wustl.edu GRCh37 2 136741009 136741009 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264161.4:c.82A>C p.Arg28= p.R28= ENST00000264161 NM_001349.2 28 Aga/Cga 0 Silent T 54 DARS SNP 2 T G 136457479 136457479 WashU USP38 84640 genome.wustl.edu GRCh37 4 144135702 144135702 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307017.4:c.2573A>G p.Tyr858Cys p.Y858C ENST00000307017 NM_032557.5 858 tAc/tGc 0 Missense_Mutation A 14 USP38 SNP 4 A G 144355152 144355152 WashU LATS1 9113 genome.wustl.edu GRCh37 6 150004708 150004708 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253339.5:c.1517C>G p.Pro506Arg p.P506R ENST00000253339 506 cCa/cGa 0 Missense_Mutation G 47 LATS1 SNP 6 G C 150046401 150046401 WashU PCMT1 5110 genome.wustl.edu GRCh37 6 150092350 150092350 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367384.2:c.282C>T p.Asp94= p.D94= ENST00000367384 94 gaC/gaT 0 Silent C 18 PCMT1 SNP 6 C T 150134043 150134043 WashU IYD 389434 genome.wustl.edu GRCh37 6 150710532 150710532 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000229447.5:c.223C>A p.Pro75Thr p.P75T ENST00000229447 NM_001164694.1 75 Ccc/Acc 0 Missense_Mutation C 22 IYD SNP 6 C A 150752225 150752225 WashU CCT8L1P genome.wustl.edu GRCh37 7 152143516 152143516 + non_coding_transcript_exon_variant RNA SNP T T A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000465400.1:n.955T>A *319* ENST00000465400 0 Missense_Mutation T 58 CCT8L1 SNP 7 T A 151774449 151774449 WashU ITLN2 142683 genome.wustl.edu GRCh37 1 160920393 160920393 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368029.3:c.550A>G p.Asn184Asp p.N184D ENST00000368029 NM_080878.2 184 Aac/Gac 0 Missense_Mutation T 63 ITLN2 SNP 1 T C 159187017 159187017 WashU PVRL4 81607 genome.wustl.edu GRCh37 1 161042552 161042552 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368012.3:c.1432A>G p.Ile478Val p.I478V ENST00000368012 NM_030916.2 478 Atc/Gtc 0 Missense_Mutation T 51 PVRL4 SNP 1 T C 159309176 159309176 WashU RANBP17 64901 genome.wustl.edu GRCh37 5 170341194 170341194 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000523189.1:c.784G>C p.Asp262His p.D262H ENST00000523189 NM_022897.3 262 Gat/Cat 0 Missense_Mutation G 41 RANBP17 SNP 5 G C 170273772 170273772 WashU IARS2 55699 genome.wustl.edu GRCh37 1 220311385 220311385 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000302637.5:c.2175G>C p.Lys725Asn p.K725N ENST00000302637 NM_018060.3 725 aaG/aaC 0 Missense_Mutation G 35 IARS2 SNP 1 G C 218378008 218378008 WashU PPP1R12B 4660 genome.wustl.edu GRCh37 1 202406959 202406959 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000608999.1:c.1265G>T p.Gly422Val p.G422V ENST00000608999 NM_002481.3 422 gGc/gTc 0 Missense_Mutation G 42 PPP1R12B SNP 1 G T 200673582 200673582 WashU PTCH1 5727 genome.wustl.edu GRCh37 9 98278988 98278988 + downstream_gene_variant 3'Flank SNP C C G novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C G C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000604650 0 Missense_Mutation C 32 PTCH1 SNP 9 G C 97318809 97318809 WashU SYT3 84258 genome.wustl.edu GRCh37 19 51135640 51135640 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338916.4:c.577G>A p.Gly193Arg p.G193R ENST00000338916 NM_032298.2 193 Gga/Aga 0 Missense_Mutation C 22 SYT3 SNP 19 C T 55827452 55827452 WashU PDGFRA 5156 genome.wustl.edu GRCh37 4 55127387 55127387 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1483-01 TCGA-13-1483-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257290.5:c.175T>A p.Tyr59Asn p.Y59N ENST00000257290 NM_006206.4 59 Tac/Aac 0 Missense_Mutation T 57 PDGFRA SNP 4 T A 54822144 54822144 WashU ZBBX 79740 genome.wustl.edu GRCh37 3 167016234 167016240 + frameshift_variant Frame_Shift_Del DEL TTTCTTG TTTCTTG - Unknown TCGA-13-1483-01 TCGA-13-1483-10 TTTCTTG TTTCTTG TTTCTTG - TTTCTTG TTTCTTG Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000455345.2:c.1732_1738del p.Gln578Ter p.Q578* ENST00000455345 578 CAAGAAAta/ta 0 Frame_Shift_Del TTTCTTG 52 ZBBX DEL 3 TTTCTTG - 168498934 168498928 WashU WNT16 51384 genome.wustl.edu GRCh37 7 120979118 120979118 + frameshift_variant Frame_Shift_Del DEL G G - Unknown TCGA-13-1483-01 TCGA-13-1483-10 G G G - G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000222462.2:c.817del p.Asp273IlefsTer23 p.D273Ifs*23 ENST00000222462 NM_057168.1 273 Gat/at 0 Frame_Shift_Del G 33 WNT16 DEL 7 G - 120766354 120766354 WashU CCNL2 81669 broad.mit.edu GRCh37 1 1334552 1334552 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000400809.3:c.135G>A p.Val45= p.V45= ENST00000400809 NM_030937.4 45 gtG/gtA 0 Silent C 25 CCNL2 SNP 1 C T 1324415 1324415 Broad RWDD3 25950 broad.mit.edu GRCh37 1 95709781 95709781 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000370202.4:c.100G>C p.Val34Leu p.V34L ENST00000370202 NM_015485.4 34 Gtg/Ctg 0 Missense_Mutation G 40 RWDD3 SNP 1 G C 95482369 95482369 Broad GJA8 2703 broad.mit.edu GRCh37 1 147380369 147380369 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000240986.4:c.287C>T p.Ala96Val p.A96V ENST00000240986 NM_005267.4 96 gCg/gTg 0 Missense_Mutation C 27 GJA8 SNP 1 C T 145846993 145846993 Broad CYB5R1 51706 broad.mit.edu GRCh37 1 202932829 202932829 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000367249.4:c.586C>T p.Arg196Trp p.R196W ENST00000367249 NM_016243.2 196 Cgg/Tgg 0 Missense_Mutation G 39 CYB5R1 SNP 1 G A 201199452 201199452 Broad FMN2 56776 broad.mit.edu GRCh37 1 240371066 240371066 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000319653.9:c.2954G>C p.Gly985Ala p.G985A ENST00000319653 NM_020066.4 985 gGc/gCc 0 Missense_Mutation G 42 FMN2 SNP 1 G C 238437689 238437689 Broad SKIDA1 387640 broad.mit.edu GRCh37 10 21804259 21804259 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000449193.2:c.2493G>T p.Lys831Asn p.K831N ENST00000449193 NM_207371.3 831 aaG/aaT 0 Missense_Mutation C 24 C10orf140 SNP 10 C A 21844265 21844265 Broad LDB3 11155 broad.mit.edu GRCh37 10 88459050 88459050 + intron_variant Intron SNP G G T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000429277.2:c.1100+6722G>T *367* ENST00000429277 NM_001171610.1 0 Silent G 39 LDB3 SNP 10 G T 88449030 88449030 Broad AGAP11 119385 broad.mit.edu GRCh37 10 88769467 88769467 + non_coding_transcript_exon_variant RNA SNP A A T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000433214.2:n.2662A>T *888* ENST00000433214 0 Silent A 11 AGAP11 SNP 10 A T 88759447 88759447 Broad C11orf40 143501 broad.mit.edu GRCh37 11 4594547 4594547 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000307616.1:c.297C>A p.Cys99Ter p.C99* ENST00000307616 NM_144663.1 99 tgC/tgA 0 Nonsense_Mutation G 34 C11orf40 SNP 11 G T 4551123 4551123 Broad TRIM3 10612 broad.mit.edu GRCh37 11 6478209 6478209 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000525074.1:c.747C>T p.Gly249= p.G249= ENST00000525074 NM_001248006.1 249 ggC/ggT 0 Silent G 46 TRIM3 SNP 11 G A 6434785 6434785 Broad TTC17 55761 broad.mit.edu GRCh37 11 43472793 43472793 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000039989.4:c.3008G>A p.Arg1003Gln p.R1003Q ENST00000039989 NM_018259.5 1003 cGa/cAa 0 Missense_Mutation G 37 TTC17 SNP 11 G A 43429369 43429369 Broad OR4D10 390197 broad.mit.edu GRCh37 11 59245208 59245208 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000530162.1:c.306T>C p.Phe102= p.F102= ENST00000530162 NM_001004705.1 102 ttT/ttC 0 Silent T 62 OR4D10 SNP 11 T C 59001784 59001784 Broad ASRGL1 80150 broad.mit.edu GRCh37 11 62124528 62124528 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000415229.2:c.403C>G p.Pro135Ala p.P135A ENST00000415229 NM_001083926.1 135 Cct/Gct 0 Missense_Mutation C 30 ASRGL1 SNP 11 C G 61881104 61881104 Broad C11orf30 56946 broad.mit.edu GRCh37 11 76224579 76224579 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000529032.1:c.1513G>A p.Gly505Ser p.G505S ENST00000529032 505 Ggc/Agc 0 Missense_Mutation G 47 C11orf30 SNP 11 G A 75902227 75902227 Broad IGSF9B 22997 broad.mit.edu GRCh37 11 133790346 133790346 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000533871.2:c.3274C>A p.Pro1092Thr p.P1092T ENST00000533871 NM_001277285.1 1092 Ccg/Acg 0 Missense_Mutation G 43 IGSF9B SNP 11 G T 133295556 133295556 Broad NINJ2 4815 broad.mit.edu GRCh37 12 675225 675225 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000305108.4:c.291G>A p.Lys97= p.K97= ENST00000305108 NM_016533.4 97 aaG/aaA 0 Silent C 24 NINJ2 SNP 12 C T 545486 545486 Broad ANKRD52 283373 broad.mit.edu GRCh37 12 56646344 56646344 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000267116.7:c.1312T>G p.Cys438Gly p.C438G ENST00000267116 NM_173595.3 438 Tgt/Ggt 0 Missense_Mutation A 8 ANKRD52 SNP 12 A C 54932611 54932611 Broad UBE3B 89910 broad.mit.edu GRCh37 12 109961915 109961915 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000342494.3:c.2497A>T p.Ile833Phe p.I833F ENST00000342494 NM_130466.3 833 Atc/Ttc 0 Missense_Mutation A 8 UBE3B SNP 12 A T 108446298 108446298 Broad SLC7A8 23428 broad.mit.edu GRCh37 14 23609786 23609786 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000316902.7:c.682G>A p.Glu228Lys p.E228K ENST00000316902 NM_012244.3 228 Gaa/Aaa 0 Missense_Mutation C 30 SLC7A8 SNP 14 C T 22679626 22679626 Broad KCNH5 27133 broad.mit.edu GRCh37 14 63483609 63483609 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000322893.7:c.137G>T p.Gly46Val p.G46V ENST00000322893 NM_139318.4 46 gGt/gTt 0 Missense_Mutation C 18 KCNH5 SNP 14 C A 62553362 62553362 Broad DYNC1H1 1778 broad.mit.edu GRCh37 14 102489219 102489219 + splice_donor_variant Splice_Site SNP T T A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000360184.4:c.8637+2T>A p.X2879_splice ENST00000360184 NM_001376.4 0 Splice_Site_SNP T 57 DYNC1H1 SNP 14 T A 101558972 101558972 Broad ACSBG1 23205 broad.mit.edu GRCh37 15 78471038 78471038 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000258873.4:c.1620C>T p.Ile540= p.I540= ENST00000258873 NM_001199377.1 540 atC/atT 0 Silent G 37 ACSBG1 SNP 15 G A 76258093 76258093 Broad NLRC3 197358 broad.mit.edu GRCh37 16 3598160 3598160 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000448023.2:c.2884C>G p.Leu962Val p.L962V ENST00000448023 962 Ctc/Gtc 0 Missense_Mutation G 34 NLRC3 SNP 16 G C 3538161 3538161 Broad ALG1 56052 broad.mit.edu GRCh37 16 5131001 5131001 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000262374.5:c.1016A>G p.Gln339Arg p.Q339R ENST00000262374 NM_019109.4 339 cAg/cGg 0 Missense_Mutation A 7 ALG1 SNP 16 A G 5071002 5071002 Broad KIAA0556 23247 broad.mit.edu GRCh37 16 27788290 27788290 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000261588.4:c.4491G>T p.Val1497= p.V1497= ENST00000261588 NM_015202.2 1497 gtG/gtT 0 Silent G 48 KIAA0556 SNP 16 G T 27695791 27695791 Broad SLC6A2 6530 broad.mit.edu GRCh37 16 55735775 55735775 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000219833.8:c.1759A>G p.Arg587Gly p.R587G ENST00000219833 NM_001172504.1 587 Aga/Gga 0 Missense_Mutation A 11 SLC6A2 SNP 16 A G 54293276 54293276 Broad ANKFY1 51479 broad.mit.edu GRCh37 17 4076650 4076650 + splice_region_variant,synonymous_variant Splice_Region SNP T T G novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000570535.1:c.3139A>C p.Arg1047= p.R1047= ENST00000570535 NM_001257999.1 1047 Aga/Cga 0 Silent T 55 ANKFY1 SNP 17 T G 4023399 4023399 Broad TP53 7157 broad.mit.edu GRCh37 17 7578534 7578534 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.396G>T p.Lys132Asn p.K132N ENST00000269305 NM_001126112.2 132 aaG/aaT 0 Missense_Mutation C 32 TP53 SNP 17 C A 7519259 7519259 Broad TOP3A 7156 broad.mit.edu GRCh37 17 18188789 18188789 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000321105.5:c.1643G>A p.Arg548Gln p.R548Q ENST00000321105 NM_004618.3 548 cGg/cAg 0 Missense_Mutation C 23 TOP3A SNP 17 C T 18129514 18129514 Broad DHRS13 147015 broad.mit.edu GRCh37 17 27225731 27225731 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000378895.4:c.862G>A p.Glu288Lys p.E288K ENST00000378895 NM_144683.3 288 Gaa/Aaa 0 Missense_Mutation C 30 DHRS13 SNP 17 C T 24249857 24249857 Broad KRT17 3872 broad.mit.edu GRCh37 17 39780467 39780467 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000311208.8:c.295C>T p.Leu99= p.L99= ENST00000311208 NM_000422.2 99 Ctg/Ttg 0 Silent G 35 KRT17 SNP 17 G A 37033993 37033993 Broad WFIKKN2 124857 broad.mit.edu GRCh37 17 48917993 48917993 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000311378.4:c.1344C>A p.Cys448Ter p.C448* ENST00000311378 NM_175575.5 448 tgC/tgA 0 Nonsense_Mutation C 25 WFIKKN2 SNP 17 C A 46272992 46272992 Broad TMEM105 284186 broad.mit.edu GRCh37 17 79287664 79287664 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000332900.1:c.177C>A p.Ser59= p.S59= ENST00000332900 NM_178520.3 59 tcC/tcA 0 Silent G 43 TMEM105 SNP 17 G T 76902259 76902259 Broad LAMA1 284217 broad.mit.edu GRCh37 18 7013922 7013922 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000389658.3:c.3255C>T p.Pro1085= p.P1085= ENST00000389658 NM_005559.3 1085 ccC/ccT 0 Silent G 39 LAMA1 SNP 18 G A 7003922 7003922 Broad ZNF521 25925 broad.mit.edu GRCh37 18 22805704 22805704 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000361524.3:c.2178C>T p.Leu726= p.L726= ENST00000361524 NM_015461.2 726 ctC/ctT 0 Silent G 33 ZNF521 SNP 18 G A 21059702 21059702 Broad HNRNPM 4670 broad.mit.edu GRCh37 19 8550730 8550731 + missense_variant Missense_Mutation DNP GC GC TT novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000325495.4:c.1418_1419delinsTT p.Gly473Val p.G473V ENST00000325495 NM_005968.4 473 gGC/gTT 0 Missense_Mutation GC 42 HNRNPM DNP 19 GC TT 8456731 8456730 Broad ZNF564 163050 broad.mit.edu GRCh37 19 12638453 12638453 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000339282.7:c.469C>T p.Arg157Ter p.R157* ENST00000339282 NM_144976.3 157 Cga/Tga 0 Nonsense_Mutation G 37 ZNF564 SNP 19 G A 12499453 12499453 Broad FKBP8 23770 broad.mit.edu GRCh37 19 18642978 18642979 + coding_sequence_variant,3_prime_UTR_variant Missense_Mutation DNP GT GT CG novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000608443.1:c.1242_*1delinsCG *414* ENST00000608443 414 0 Nonstop_Mutation GT 44 FKBP8 DNP 19 GT CG 18503979 18503978 Broad ZFP14 57677 broad.mit.edu GRCh37 19 36832293 36832293 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000270001.7:c.435T>C p.Ile145= p.I145= ENST00000270001 NM_020917.2 145 atT/atC 0 Silent A 13 ZFP14 SNP 19 A G 41524133 41524133 Broad GRIK5 2901 broad.mit.edu GRCh37 19 42569434 42569434 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000262895.3:c.185G>A p.Arg62Gln p.R62Q ENST00000262895 NM_002088.4 62 cGa/cAa 0 Missense_Mutation C 31 GRIK5 SNP 19 C T 47261274 47261274 Broad TPRX1 284355 broad.mit.edu GRCh37 19 48305265 48305266 + missense_variant Missense_Mutation DNP GC GC AA novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000322175.3:c.1002_1003delinsTT p.Trp334_Pro335delinsCysSer p.W334_P335delinsCS ENST00000322175 NM_198479.2 334 tgGCct/tgTTct 0 Missense_Mutation GC 42 TPRX1 DNP 19 GC AA 52997078 52997077 Broad SHANK1 50944 broad.mit.edu GRCh37 19 51175356 51175356 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000293441.1:c.2593C>T p.His865Tyr p.H865Y ENST00000293441 NM_016148.2 865 Cac/Tac 0 Missense_Mutation G 47 SHANK1 SNP 19 G A 55867168 55867168 Broad DNAAF3 352909 broad.mit.edu GRCh37 19 55677721 55677721 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000527223.2:c.202C>T p.Pro68Ser p.P68S ENST00000527223 NM_001256714.1 68 Ccg/Tcg 0 Missense_Mutation G 43 C19orf51 SNP 19 G A 60369533 60369533 Broad LRPPRC 10128 broad.mit.edu GRCh37 2 44171017 44171017 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000260665.7:c.2313G>A p.Leu771= p.L771= ENST00000260665 NM_133259.3 771 ctG/ctA 0 Silent C 29 LRPPRC SNP 2 C T 44024521 44024521 Broad RPS27A 6233 broad.mit.edu GRCh37 2 55462090 55462090 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000272317.6:c.313T>C p.Tyr105His p.Y105H ENST00000272317 NM_002954.5 105 Tat/Cat 0 Missense_Mutation T 49 RPS27A SNP 2 T C 55315594 55315594 Broad LOXL3 84695 broad.mit.edu GRCh37 2 74763565 74763565 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000264094.3:c.946G>C p.Gly316Arg p.G316R ENST00000264094 NM_032603.2 316 Gga/Cga 0 Missense_Mutation C 21 LOXL3 SNP 2 C G 74617073 74617073 Broad SOGA1 140710 broad.mit.edu GRCh37 20 35444287 35444287 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000237536.4:c.1558G>A p.Glu520Lys p.E520K ENST00000237536 NM_080627.2 520 Gaa/Aaa 0 Missense_Mutation C 31 C20orf117 SNP 20 C T 34877701 34877701 Broad TOP1 7150 broad.mit.edu GRCh37 20 39741530 39741530 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000361337.2:c.1417C>A p.Arg473= p.R473= ENST00000361337 NM_003286.2 473 Cgg/Agg 0 Silent C 23 TOP1 SNP 20 C A 39174944 39174944 Broad ZNF335 63925 broad.mit.edu GRCh37 20 44592403 44592403 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000322927.2:c.1329G>A p.Arg443= p.R443= ENST00000322927 NM_022095.3 443 agG/agA 0 Silent C 26 ZNF335 SNP 20 C T 44025810 44025810 Broad ATP9A 10079 broad.mit.edu GRCh37 20 50234046 50234046 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000338821.5:c.2398G>A p.Val800Met p.V800M ENST00000338821 NM_006045.1 800 Gtg/Atg 0 Missense_Mutation C 19 ATP9A SNP 20 C T 49667453 49667453 Broad GAS2L1 10634 broad.mit.edu GRCh37 22 29707990 29707990 + 3_prime_UTR_variant 3'UTR SNP T T A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000341313.6:c.*998T>A *333* ENST00000341313 0 Missense_Mutation T 55 GAS2L1 SNP 22 T A 28037990 28037990 Broad SBF1 6305 broad.mit.edu GRCh37 22 50901053 50901053 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000380817.3:c.2062G>T p.Gly688Trp p.G688W ENST00000380817 NM_002972.2 688 Ggg/Tgg 0 Missense_Mutation C 21 SBF1 SNP 22 C A 49247919 49247919 Broad ATP2B2 491 broad.mit.edu GRCh37 3 10491191 10491191 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000360273.2:c.37A>G p.Asn13Asp p.N13D ENST00000360273 NM_001001331.2 13 Aac/Gac 0 Missense_Mutation T 64 ATP2B2 SNP 3 T C 10466191 10466191 Broad SKIL 6498 broad.mit.edu GRCh37 3 170110051 170110051 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000458537.3:c.1901C>T p.Ala634Val p.A634V ENST00000458537 NM_001248008.1 634 gCa/gTa 0 Missense_Mutation C 25 SKIL SNP 3 C T 171592745 171592745 Broad DCUN1D1 54165 broad.mit.edu GRCh37 3 182681668 182681668 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000292782.4:c.389+1G>T p.X130_splice ENST00000292782 NM_020640.2 0 Splice_Site_SNP C 18 DCUN1D1 SNP 3 C A 184164362 184164362 Broad GPR78 27201 broad.mit.edu GRCh37 4 8584292 8584292 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000382487.4:c.703C>T p.Arg235Cys p.R235C ENST00000382487 NM_080819.4 235 Cgc/Tgc 0 Missense_Mutation C 27 GPR78 SNP 4 C T 8635192 8635192 Broad CEP135 9662 broad.mit.edu GRCh37 4 56865776 56865776 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000257287.4:c.2245A>G p.Lys749Glu p.K749E ENST00000257287 NM_025009.4 749 Aag/Gag 0 Missense_Mutation A 1 CEP135 SNP 4 A G 56560533 56560533 Broad SMR3A 26952 broad.mit.edu GRCh37 4 71227877 71227877 + synonymous_variant Silent SNP G G C rs62322478 by1000genomes TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000226460.4:c.45G>C p.Ala15= p.A15= ENST00000226460 NM_012390.3 15 gcG/gcC 0 Silent G 40 SMR3A SNP 4 G C 71262466 71262466 Broad SDAD1 55153 broad.mit.edu GRCh37 4 76892517 76892517 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000356260.5:c.806T>C p.Val269Ala p.V269A ENST00000356260 NM_018115.2 269 gTg/gCg 0 Missense_Mutation A 6 SDAD1 SNP 4 A G 77111541 77111541 Broad LPCAT1 79888 broad.mit.edu GRCh37 5 1494896 1494896 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000283415.3:c.412T>G p.Tyr138Asp p.Y138D ENST00000283415 NM_024830.3 138 Tac/Gac 0 Missense_Mutation A 15 LPCAT1 SNP 5 A C 1547896 1547896 Broad PCDHB11 56125 broad.mit.edu GRCh37 5 140581012 140581012 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000354757.3:c.1665C>T p.Asn555= p.N555= ENST00000354757 NM_018931.2 555 aaC/aaT 0 Silent C 19 PCDHB11 SNP 5 C T 140561196 140561196 Broad HIVEP1 3096 broad.mit.edu GRCh37 6 12124959 12124959 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000379388.2:c.4931T>A p.Val1644Asp p.V1644D ENST00000379388 NM_002114.2 1644 gTt/gAt 0 Missense_Mutation T 60 HIVEP1 SNP 6 T A 12232945 12232945 Broad DCDC2 51473 broad.mit.edu GRCh37 6 24357707 24357707 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000378454.3:c.272A>G p.Gln91Arg p.Q91R ENST00000378454 NM_001195610.1 91 cAg/cGg 0 Missense_Mutation T 55 DCDC2 SNP 6 T C 24465686 24465686 Broad OR5V1 81696 broad.mit.edu GRCh37 6 29323086 29323086 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000377154.1:c.887A>G p.Asp296Gly p.D296G ENST00000377154 296 gAc/gGc 0 Missense_Mutation T 58 OR5V1 SNP 6 T C 29431065 29431065 Broad C6orf222 389384 broad.mit.edu GRCh37 6 36291094 36291094 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000437635.2:c.1447C>T p.Arg483Trp p.R483W ENST00000437635 NM_001010903.4 483 Cgg/Tgg 0 Missense_Mutation G 37 C6orf222 SNP 6 G A 36399072 36399072 Broad DAAM2 23500 broad.mit.edu GRCh37 6 39846032 39846032 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000398904.2:c.1355G>A p.Arg452Gln p.R452Q ENST00000398904 452 cGg/cAg 0 Missense_Mutation G 39 DAAM2 SNP 6 G A 39954010 39954010 Broad TJAP1 93643 broad.mit.edu GRCh37 6 43471138 43471138 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000372445.5:c.388-1G>A p.X130_splice ENST00000372445 NM_001146016.1 0 Splice_Site_SNP G 33 TJAP1 SNP 6 G A 43579116 43579116 Broad DNAH11 8701 broad.mit.edu GRCh37 7 21912912 21912912 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000328843.6:c.12009G>C p.Lys4003Asn p.K4003N ENST00000328843 4003 aaG/aaC 0 Missense_Mutation G 36 DNAH11 SNP 7 G C 21879437 21879437 Broad AUTS2 26053 broad.mit.edu GRCh37 7 70236588 70236588 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000342771.4:c.1788C>T p.Pro596= p.P596= ENST00000342771 NM_015570.2 596 ccC/ccT 0 Silent C 21 AUTS2 SNP 7 C T 69874524 69874524 Broad VPS37D 155382 broad.mit.edu GRCh37 7 73085437 73085438 + missense_variant Missense_Mutation DNP AC AC TT novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000324941.4:c.487_488delinsTT p.Thr163Leu p.T163L ENST00000324941 NM_001077621.1 163 ACg/TTg 0 Missense_Mutation AC 10 VPS37D DNP 7 AC TT 72723374 72723373 Broad COL1A2 1278 broad.mit.edu GRCh37 7 94052392 94052392 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000297268.6:c.2527G>A p.Ala843Thr p.A843T ENST00000297268 NM_000089.3 843 Gct/Act 0 Missense_Mutation G 38 COL1A2 SNP 7 G A 93890328 93890328 Broad TMEM168 64418 broad.mit.edu GRCh37 7 112407693 112407693 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000312814.6:c.1653T>G p.Pro551= p.P551= ENST00000312814 NM_001287497.1 551 ccT/ccG 0 Silent A 3 TMEM168 SNP 7 A C 112194929 112194929 Broad RP1L1 94137 broad.mit.edu GRCh37 8 10466744 10466744 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000382483.3:c.4864C>T p.Arg1622Trp p.R1622W ENST00000382483 NM_178857.5 1622 Cgg/Tgg 0 Missense_Mutation G 38 RP1L1 SNP 8 G A 10504154 10504154 Broad INTS10 55174 broad.mit.edu GRCh37 8 19690775 19690775 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000397977.3:c.1473G>T p.Glu491Asp p.E491D ENST00000397977 NM_018142.2 491 gaG/gaT 0 Missense_Mutation G 34 INTS10 SNP 8 G T 19735055 19735055 Broad SULF1 23213 broad.mit.edu GRCh37 8 70540087 70540087 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000260128.4:c.2028C>A p.Ser676Arg p.S676R ENST00000260128 NM_015170.2 676 agC/agA 0 Missense_Mutation C 28 SULF1 SNP 8 C A 70702641 70702641 Broad PDP1 54704 broad.mit.edu GRCh37 8 94935840 94935840 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000396200.3:c.1628T>G p.Ile543Ser p.I543S ENST00000396200 NM_001161779.1 543 aTt/aGt 0 Missense_Mutation T 52 PDP1 SNP 8 T G 95005016 95005016 Broad FER1L6 654463 broad.mit.edu GRCh37 8 125115513 125115513 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000522917.1:c.5252G>A p.Arg1751His p.R1751H ENST00000522917 NM_001039112.2 1751 cGt/cAt 0 Missense_Mutation G 40 FER1L6 SNP 8 G A 125184694 125184694 Broad NEK6 10783 broad.mit.edu GRCh37 9 127110067 127110067 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000373600.3:c.899A>G p.Tyr300Cys p.Y300C ENST00000373600 NM_001145001.2 300 tAc/tGc 0 Missense_Mutation A 14 NEK6 SNP 9 A G 126149888 126149888 Broad NUP214 8021 broad.mit.edu GRCh37 9 134108873 134108873 + stop_retained_variant Silent SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000359428.5:c.6272G>A p.Ter2091= p.*2091= ENST00000359428 NM_005085.3 2091 tGa/tAa 0 Silent G 45 NUP214 SNP 9 G A 133098694 133098694 Broad REPS2 9185 broad.mit.edu GRCh37 X 17153387 17153387 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000357277.3:c.1666G>T p.Val556Leu p.V556L ENST00000357277 NM_001080975.1 556 Gta/Tta 0 Missense_Mutation G 48 REPS2 SNP 23 G T 17063308 17063308 Broad ZXDB 158586 broad.mit.edu GRCh37 X 57620274 57620274 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000374888.1:c.1793G>C p.Arg598Thr p.R598T ENST00000374888 NM_007157.3 598 aGa/aCa 0 Missense_Mutation G 33 ZXDB SNP 23 G C 57636999 57636999 Broad RBM41 55285 broad.mit.edu GRCh37 X 106312507 106312507 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000372479.3:c.1053C>T p.Gly351= p.G351= ENST00000372479 NM_018301.3 351 ggC/ggT 0 Silent G 42 RBM41 SNP 23 G A 106199163 106199163 Broad BCORL1 63035 broad.mit.edu GRCh37 X 129185903 129185903 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000540052.1:c.4765G>A p.Asp1589Asn p.D1589N ENST00000540052 NM_021946.4 1589 Gat/Aat 0 Missense_Mutation G 37 BCORL1 SNP 23 G A 129013584 129013584 Broad SLITRK2 84631 broad.mit.edu GRCh37 X 144904007 144904007 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2262-01 TCGA-24-2262-11 Unknown Unknown Unknown x x x ENST00000370490.1:c.64C>T p.Arg22Cys p.R22C ENST00000370490 22 Cgc/Tgc 0 Missense_Mutation C 31 SLITRK2 SNP 23 C T 144711699 144711699 Broad PLEKHG4B 153478 genome.wustl.edu GRCh37 5 156279 156279 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000283426.6:c.1234G>T p.Val412Phe p.V412F ENST00000283426 NM_052909.3 412 Gtc/Ttc 0 Missense_Mutation G 40 PLEKHG4B SNP 5 G T 209279 209279 WashU SH3YL1 26751 genome.wustl.edu GRCh37 2 231084 231084 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356150.5:c.641A>G p.Tyr214Cys p.Y214C ENST00000356150 NM_015677.2 214 tAt/tGt 0 Missense_Mutation T 49 SH3YL1 SNP 2 T C 221084 221084 WashU TGM3 7053 genome.wustl.edu GRCh37 20 2312705 2312705 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381458.5:c.1391C>G p.Thr464Arg p.T464R ENST00000381458 NM_003245.3 464 aCg/aGg 0 Missense_Mutation C 19 TGM3 SNP 20 C G 2260705 2260705 WashU ABCA3 21 genome.wustl.edu GRCh37 16 2358451 2358451 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000301732.5:c.1285G>A p.Gly429Ser p.G429S ENST00000301732 NM_001089.2 429 Ggc/Agc 0 Missense_Mutation C 24 ABCA3 SNP 16 C T 2298452 2298452 WashU NQO2 4835 genome.wustl.edu GRCh37 6 3015782 3015782 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338130.2:c.322A>T p.Ser108Cys p.S108C ENST00000338130 108 Agc/Tgc 0 Missense_Mutation A 7 NQO2 SNP 6 A T 2960781 2960781 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T rs11540652 Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 Missense_Mutation C 23 TP53 SNP 17 C T 7518263 7518263 WashU FBN3 84467 genome.wustl.edu GRCh37 19 8206902 8206902 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000600128.1:c.661C>T p.Pro221Ser p.P221S ENST00000600128 221 Cca/Tca 0 Missense_Mutation G 41 FBN3 SNP 19 G A 8112902 8112902 WashU CCDC42 146849 genome.wustl.edu GRCh37 17 8646962 8646962 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000293845.3:c.276G>T p.Lys92Asn p.K92N ENST00000293845 NM_144681.2 92 aaG/aaT 0 Missense_Mutation C 20 CCDC42 SNP 17 C A 8587687 8587687 WashU TERF1P2 genome.wustl.edu GRCh37 18 14377947 14377947 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000583350.1:n.810A>G *270* ENST00000583350 0 Silent T 64 LOC646359 SNP 18 T C 14367947 14367947 WashU PROM1 8842 genome.wustl.edu GRCh37 4 15991388 15991388 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000510224.1:c.2043C>A p.His681Gln p.H681Q ENST00000510224 681 caC/caA 0 Missense_Mutation G 44 PROM1 SNP 4 G T 15600486 15600486 WashU SPATA21 374955 genome.wustl.edu GRCh37 1 16725989 16725989 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335496.1:c.1202A>G p.Gln401Arg p.Q401R ENST00000335496 NM_198546.1 401 cAg/cGg 0 Missense_Mutation T 55 SPATA21 SNP 1 T C 16598576 16598576 WashU PADI3 51702 genome.wustl.edu GRCh37 1 17599933 17599933 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000375460.3:c.1146A>T p.Lys382Asn p.K382N ENST00000375460 NM_016233.2 382 aaA/aaT 0 Missense_Mutation A 1 PADI3 SNP 1 A T 17472520 17472520 WashU ACTL8 81569 genome.wustl.edu GRCh37 1 18152897 18152897 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375406.1:c.984G>C p.Trp328Cys p.W328C ENST00000375406 NM_030812.2 328 tgG/tgC 0 Missense_Mutation G 43 ACTL8 SNP 1 G C 18025484 18025484 WashU UBR4 23352 genome.wustl.edu GRCh37 1 19493580 19493580 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375254.3:c.4045C>G p.Arg1349Gly p.R1349G ENST00000375254 NM_020765.2 1349 Cgt/Ggt 0 Missense_Mutation G 37 UBR4 SNP 1 G C 19366167 19366167 WashU CDH10 1008 genome.wustl.edu GRCh37 5 24535261 24535261 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264463.4:c.774G>A p.Thr258= p.T258= ENST00000264463 NM_006727.3 258 acG/acA 0 Silent C 27 CDH10 SNP 5 C T 24571018 24571018 WashU SLC17A3 10786 genome.wustl.edu GRCh37 6 25862239 25862239 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397060.4:c.322T>A p.Ser108Thr p.S108T ENST00000397060 NM_001098486.1 108 Tct/Act 0 Missense_Mutation A 10 SLC17A3 SNP 6 A T 25970218 25970218 WashU HIST1H4H 8365 genome.wustl.edu GRCh37 6 26285681 26285681 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000289352.1:c.47C>T p.Ala16Val p.A16V ENST00000289352 16 gCt/gTt 0 Missense_Mutation G 34 HIST1H4H SNP 6 G A 26393660 26393660 WashU FLT1 2321 genome.wustl.edu GRCh37 13 28980000 28980000 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282397.4:c.1468T>C p.Phe490Leu p.F490L ENST00000282397 NM_002019.4 490 Ttt/Ctt 0 Missense_Mutation A 3 FLT1 SNP 13 A G 27878000 27878000 WashU CEP250 11190 genome.wustl.edu GRCh37 20 34096010 34096010 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397527.1:c.6897C>G p.Thr2299= p.T2299= ENST00000397527 NM_007186.3 2299 acC/acG 0 Silent C 24 CEP250 SNP 20 C G 33559424 33559424 WashU PLXDC1 57125 genome.wustl.edu GRCh37 17 37295999 37295999 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315392.4:c.163G>T p.Val55Leu p.V55L ENST00000315392 NM_020405.4 55 Gtg/Ttg 0 Missense_Mutation C 17 PLXDC1 SNP 17 C A 34549525 34549525 WashU DSN1 79980 genome.wustl.edu GRCh37 20 35396413 35396413 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000426836.1:c.388G>T p.Glu130Ter p.E130* ENST00000426836 NM_001145316.1 130 Gaa/Taa 0 Nonsense_Mutation C 32 DSN1 SNP 20 C A 34829827 34829827 WashU SLC1A2 6506 genome.wustl.edu GRCh37 11 35333940 35333940 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000278379.3:c.366G>T p.Val122= p.V122= ENST00000278379 NM_004171.3 122 gtG/gtT 0 Silent C 17 SLC1A2 SNP 11 C A 35290516 35290516 WashU FANCE 2178 genome.wustl.edu GRCh37 6 35423981 35423981 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000229769.2:c.706C>T p.His236Tyr p.H236Y ENST00000229769 NM_021922.2 236 Cat/Tat 0 Missense_Mutation C 17 FANCE SNP 6 C T 35531959 35531959 WashU CLSPN 63967 genome.wustl.edu GRCh37 1 36226156 36226156 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318121.3:c.1366C>G p.Leu456Val p.L456V ENST00000318121 NM_022111.3 456 Ctg/Gtg 0 Missense_Mutation G 35 CLSPN SNP 1 G C 35998743 35998743 WashU THRAP3 9967 genome.wustl.edu GRCh37 1 36762273 36762273 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354618.5:c.2205T>A p.Gly735= p.G735= ENST00000354618 NM_005119.3 735 ggT/ggA 0 Silent T 57 THRAP3 SNP 1 T A 36534860 36534860 WashU SCN5A 6331 genome.wustl.edu GRCh37 3 38627206 38627206 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000413689.1:c.2763T>C p.Leu921= p.L921= ENST00000413689 NM_001160160.1 921 ctT/ctC 0 Silent A 5 SCN5A SNP 3 A G 38602210 38602210 WashU XRCC6 2547 genome.wustl.edu GRCh37 22 42049657 42049657 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359308.4:c.1254A>C p.Glu418Asp p.E418D ENST00000359308 418 gaA/gaC 0 Missense_Mutation A 3 XRCC6 SNP 22 A C 40379603 40379603 WashU ZNF106 64397 genome.wustl.edu GRCh37 15 42742522 42742522 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263805.4:c.1879G>A p.Glu627Lys p.E627K ENST00000263805 NM_022473.1 627 Gag/Aag 0 Missense_Mutation C 30 ZFP106 SNP 15 C T 40529814 40529814 WashU ZKSCAN7 55888 genome.wustl.edu GRCh37 3 44611782 44611782 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273320.3:c.1180C>T p.Arg394Trp p.R394W ENST00000273320 NM_018651.2 394 Cgg/Tgg 0 Missense_Mutation C 31 ZNF167 SNP 3 C T 44586786 44586786 WashU SNRPA 6626 genome.wustl.edu GRCh37 19 41265387 41265387 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000243563.3:c.298A>G p.Thr100Ala p.T100A ENST00000243563 NM_004596.4 100 Acc/Gcc 0 Missense_Mutation A 6 SNRPA SNP 19 A G 45957227 45957227 WashU ARHGEF1 9138 genome.wustl.edu GRCh37 19 42392892 42392892 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000337665.4:c.226G>A p.Ala76Thr p.A76T ENST00000337665 NM_199002.1 76 Gcc/Acc 0 Missense_Mutation G 42 ARHGEF1 SNP 19 G A 47084732 47084732 WashU CKAP2 26586 genome.wustl.edu GRCh37 13 53048156 53048156 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378037.5:c.1742A>G p.Asn581Ser p.N581S ENST00000378037 NM_018204.3 581 aAt/aGt 0 Missense_Mutation A 4 CKAP2 SNP 13 A G 51946157 51946157 WashU TESPA1 9840 genome.wustl.edu GRCh37 12 55354975 55354975 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000449076.1:c.1544C>A p.Thr515Asn p.T515N ENST00000449076 NM_001136030.2 515 aCt/aAt 0 Missense_Mutation G 36 KIAA0748 SNP 12 G T 53641242 53641242 WashU DHX29 54505 genome.wustl.edu GRCh37 5 54581181 54581181 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000251636.5:c.1296T>C p.Asp432= p.D432= ENST00000251636 NM_019030.2 432 gaT/gaC 0 Silent A 8 DHX29 SNP 5 A G 54616938 54616938 WashU OR5M1 390168 genome.wustl.edu GRCh37 11 56380660 56380660 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000526538.1:c.319C>T p.Leu107= p.L107= ENST00000526538 NM_001004740.1 107 Ctg/Ttg 0 Silent G 35 OR5M1 SNP 11 G A 56137236 56137236 WashU RP11-220H4.2 728500 genome.wustl.edu GRCh37 7 57005197 57005197 + downstream_gene_variant 3'Flank SNP G G A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000438030 0 Missense_Mutation G 46 LOC728500 SNP 7 G A 57009139 57009139 WashU DNAJC6 9829 genome.wustl.edu GRCh37 1 65855051 65855051 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371069.4:c.1306G>T p.Glu436Ter p.E436* ENST00000371069 NM_001256864.1 436 Gaa/Taa 0 Nonsense_Mutation G 41 DNAJC6 SNP 1 G T 65627639 65627639 WashU SHANK2 22941 genome.wustl.edu GRCh37 11 70332194 70332194 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338508.4:c.4207G>T p.Asp1403Tyr p.D1403Y ENST00000338508 1403 Gat/Tat 0 Missense_Mutation C 30 SHANK2 SNP 11 C A 70009842 70009842 WashU MUC7 4589 genome.wustl.edu GRCh37 4 71346827 71346827 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000413702.1:c.366A>G p.Lys122= p.K122= ENST00000413702 NM_001145006.1 122 aaA/aaG 0 Silent A 1 MUC7 SNP 4 A G 71381416 71381416 WashU ZNF236 7776 genome.wustl.edu GRCh37 18 74563808 74563808 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253159.8:c.270G>A p.Gly90= p.G90= ENST00000253159 NM_007345.3 90 ggG/ggA 0 Silent G 43 ZNF236 SNP 18 G A 72692796 72692796 WashU AREL1 9870 genome.wustl.edu GRCh37 14 75150179 75150179 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356357.4:c.301C>T p.His101Tyr p.H101Y ENST00000356357 NM_001039479.1 101 Cac/Tac 0 Missense_Mutation G 45 KIAA0317 SNP 14 G A 74219932 74219932 WashU C14orf178 283579 genome.wustl.edu GRCh37 14 78236010 78236010 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355883.3:c.358G>T p.Ala120Ser p.A120S ENST00000355883 NM_174943.3 120 Gcc/Tcc 0 Missense_Mutation G 46 C14orf178 SNP 14 G T 77305763 77305763 WashU RBM26 64062 genome.wustl.edu GRCh37 13 79933778 79933778 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000267229.7:c.1461A>C p.Ser487= p.S487= ENST00000267229 NM_022118.3 487 tcA/tcC 0 Silent T 55 RBM26 SNP 13 T G 78831779 78831779 WashU MDN1 23195 genome.wustl.edu GRCh37 6 90422426 90422426 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369393.3:c.7298G>T p.Gly2433Val p.G2433V ENST00000369393 2433 gGa/gTa 0 Missense_Mutation C 30 MDN1 SNP 6 C A 90479147 90479147 WashU TNKS2 80351 genome.wustl.edu GRCh37 10 93602091 93602091 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371627.4:c.2002G>C p.Asp668His p.D668H ENST00000371627 NM_025235.3 668 Gat/Cat 0 Missense_Mutation G 45 TNKS2 SNP 10 G C 93592071 93592071 WashU FANCC 2176 genome.wustl.edu GRCh37 9 98002989 98002989 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000289081.3:c.287G>T p.Cys96Phe p.C96F ENST00000289081 NM_000136.2 96 tGt/tTt 0 Missense_Mutation C 17 FANCC SNP 9 C A 97042810 97042810 WashU TCEAL8 90843 genome.wustl.edu GRCh37 X 102508779 102508779 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372685.3:c.129C>T p.Ser43= p.S43= ENST00000372685 NM_153333.2 43 agC/agT 0 Silent G 42 TCEAL8 SNP 23 G A 102395435 102395435 WashU ZFPM2 23414 genome.wustl.edu GRCh37 8 106456538 106456538 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000407775.2:c.230A>G p.Glu77Gly p.E77G ENST00000407775 NM_012082.3 77 gAa/gGa 0 Missense_Mutation A 9 ZFPM2 SNP 8 A G 106525714 106525714 WashU PTPN3 5774 genome.wustl.edu GRCh37 9 112185023 112185023 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374541.2:c.1111C>T p.Arg371Cys p.R371C ENST00000374541 NM_001145368.1 371 Cgt/Tgt 0 Missense_Mutation G 37 PTPN3 SNP 9 G A 111224844 111224844 WashU ABCG4 64137 genome.wustl.edu GRCh37 11 119031698 119031698 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307417.3:c.1823C>T p.Ala608Val p.A608V ENST00000307417 NM_022169.4 608 gCg/gTg 0 Missense_Mutation C 27 ABCG4 SNP 11 C T 118536908 118536908 WashU HSD3B2 3284 genome.wustl.edu GRCh37 1 119965185 119965185 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000543831.1:c.1061A>T p.Glu354Val p.E354V ENST00000543831 NM_001166120.1 354 gAg/gTg 0 Missense_Mutation A 11 HSD3B2 SNP 1 A T 119766708 119766708 WashU PCDHA4 56144 genome.wustl.edu GRCh37 5 140188833 140188833 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000530339.1:c.2061G>C p.Val687= p.V687= ENST00000530339 NM_018907.2 687 gtG/gtC 0 Silent G 47 PCDHA4 SNP 5 G C 140169017 140169017 WashU PCDHGA5 56110 genome.wustl.edu GRCh37 5 140745301 140745301 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000518069.1:c.1404T>G p.Gly468= p.G468= ENST00000518069 NM_018918.2 468 ggT/ggG 0 Silent T 59 PCDHGA5 SNP 5 T G 140725485 140725485 WashU TRPC1 7220 genome.wustl.edu GRCh37 3 142511801 142511801 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000476941.1:c.1573C>T p.Pro525Ser p.P525S ENST00000476941 NM_001251845.1 525 Cca/Tca 0 Missense_Mutation C 30 TRPC1 SNP 3 C T 143994491 143994491 WashU DPYSL3 1809 genome.wustl.edu GRCh37 5 146795406 146795406 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000343218.5:c.686G>A p.Ser229Asn p.S229N ENST00000343218 NM_001197294.1 229 aGc/aAc 0 Missense_Mutation C 28 DPYSL3 SNP 5 C T 146775599 146775599 WashU NEB 4703 genome.wustl.edu GRCh37 2 152512413 152512413 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397345.3:c.6620A>C p.His2207Pro p.H2207P ENST00000397345 NM_001164508.1 2207 cAc/cCc 0 Missense_Mutation T 59 NEB SNP 2 T G 152220659 152220659 WashU TIAM2 26230 genome.wustl.edu GRCh37 6 155450467 155450467 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000461783.3:c.110C>T p.Ala37Val p.A37V ENST00000461783 37 gCa/gTa 0 Missense_Mutation C 25 TIAM2 SNP 6 C T 155492159 155492159 WashU OR6K3 391114 genome.wustl.edu GRCh37 1 158687573 158687573 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368145.1:c.333G>C p.Glu111Asp p.E111D ENST00000368145 NM_001005327.2 111 gaG/gaC 0 Missense_Mutation C 24 OR6K3 SNP 1 C G 156954197 156954197 WashU TLL1 7092 genome.wustl.edu GRCh37 4 166916241 166916241 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000061240.2:c.543C>T p.Ala181= p.A181= ENST00000061240 NM_012464.4 181 gcC/gcT 0 Silent C 21 TLL1 SNP 4 C T 167135691 167135691 WashU ITGA6 3655 genome.wustl.edu GRCh37 2 173344433 173344433 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409080.1:c.1453C>A p.Gln485Lys p.Q485K ENST00000409080 NM_001079818.1 485 Cag/Aag 0 Missense_Mutation C 21 ITGA6 SNP 2 C A 173052679 173052679 WashU HMCN1 83872 genome.wustl.edu GRCh37 1 185992266 185992266 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271588.4:c.5730C>T p.His1910= p.H1910= ENST00000271588 NM_031935.2 1910 caC/caT 0 Silent C 17 HMCN1 SNP 1 C T 184258889 184258889 WashU HECW2 57520 genome.wustl.edu GRCh37 2 197171942 197171942 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260983.3:c.2601C>T p.Arg867= p.R867= ENST00000260983 NM_020760.1 867 cgC/cgT 0 Silent G 46 HECW2 SNP 2 G A 196880187 196880187 WashU IPO9 55705 genome.wustl.edu GRCh37 1 201821291 201821291 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361565.4:c.574G>A p.Glu192Lys p.E192K ENST00000361565 NM_018085.4 192 Gag/Aag 0 Missense_Mutation G 33 IPO9 SNP 1 G A 200087914 200087914 WashU KCTD3 51133 genome.wustl.edu GRCh37 1 215747131 215747131 + missense_variant,splice_region_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000259154.4:c.86T>G p.Phe29Cys p.F29C ENST00000259154 NM_016121.3 29 tTt/tGt 0 Missense_Mutation T 64 KCTD3 SNP 1 T G 213813754 213813754 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G A A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA;Sanger_PCR_WGA dbGAP Illumina GAIIx ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 Missense_Mutation G 38 TP53 SNP 17 G A 7517846 7517846 WashU PADI4 23569 genome.wustl.edu GRCh37 1 17674461 17674461 + missense_variant Missense_Mutation SNP A A T Unknown TCGA-13-1499-01 TCGA-13-1499-10 A A A T A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000375448.4:c.1073A>T p.Gln358Leu p.Q358L ENST00000375448 NM_012387.2 358 cAa/cTa 0 Missense_Mutation A 5 PADI4 SNP 1 A T 17547048 17547048 WashU CORO2B 10391 genome.wustl.edu GRCh37 15 69003075 69003075 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000566799.1:c.338G>A p.Arg113Gln p.R113Q ENST00000566799 113 cGg/cAg 0 Missense_Mutation G 39 CORO2B SNP 15 G A 66790129 66790129 WashU FBN3 84467 genome.wustl.edu GRCh37 19 8191368 8191368 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000600128.1:c.2538C>T p.Cys846= p.C846= ENST00000600128 846 tgC/tgT 0 Silent G 38 FBN3 SNP 19 G A 8097368 8097368 WashU MAP4K3 8491 genome.wustl.edu GRCh37 2 39515317 39515317 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263881.3:c.1419A>C p.Gln473His p.Q473H ENST00000263881 NM_003618.3 473 caA/caC 0 Missense_Mutation T 56 MAP4K3 SNP 2 T G 39368821 39368821 WashU PCDHA10 56139 genome.wustl.edu GRCh37 5 140237743 140237743 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01 TCGA-13-1499-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307360.5:c.2110G>A p.Ala704Thr p.A704T ENST00000307360 NM_018901.2 704 Gcg/Acg 0 Missense_Mutation G 38 PCDHA10 SNP 5 G A 140217927 140217927 WashU ACTR1B 10120 hgsc.bcm.edu GRCh37 2 98275813 98275813 + splice_donor_variant Splice_Site SNP A A G novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000289228.5:c.315+2T>C p.X105_splice ENST00000289228 NM_005735.3 0 Splice_Site_SNP A 6 ACTR1B SNP 2 A G 97642245 97642245 Baylor ADCY5 111 hgsc.bcm.edu GRCh37 3 123005609 123005609 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000462833.1:c.3580C>A p.Pro1194Thr p.P1194T ENST00000462833 NM_183357.2 1194 Cct/Act 0 Missense_Mutation G 42 ADCY5 SNP 3 G T 124488299 124488299 Baylor ATG9B 285973 hgsc.bcm.edu GRCh37 7 150721217 150721218 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377974.2:c.293dupC p.Thr99AsnfsTer50 p.T99Nfs*50 ENST00000377974 98 cca/ccCa 0 Frame_Shift_Ins - 63 ATG9B INS 7 - G 150352151 150352150 Baylor RPF2 84154 hgsc.bcm.edu GRCh37 6 111320914 111320914 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000441448.2:c.317G>T p.Gly106Val p.G106V ENST00000441448 NM_032194.1 106 gGt/gTt 0 Missense_Mutation G 44 RPF2 SNP 6 G T 111427607 111427607 Baylor C10orf71 118461 hgsc.bcm.edu GRCh37 10 50532316 50532316 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374144.3:c.1726C>A p.Pro576Thr p.P576T ENST00000374144 576 Cct/Act 0 Missense_Mutation C 22 C10orf71 SNP 10 C A 50202322 50202322 Baylor C1orf27 54953 hgsc.bcm.edu GRCh37 1 186355164 186355164 + synonymous_variant Silent SNP T T C novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000287859.6:c.279T>C p.Phe93= p.F93= ENST00000287859 NM_017847.5 93 ttT/ttC 0 Silent T 61 C1orf27 SNP 1 T C 184621787 184621787 Baylor CDA 978 hgsc.bcm.edu GRCh37 1 20931489 20931489 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G A A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000375071.3:c.223G>A p.Val75Ile p.V75I ENST00000375071 NM_001785.2 75 Gtc/Atc 0 Missense_Mutation G 40 CDA SNP 1 A A 20804076 20804076 Baylor CLCA2 9635 hgsc.bcm.edu GRCh37 1 86890084 86890084 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370565.4:c.154C>A p.Pro52Thr p.P52T ENST00000370565 NM_006536.5 52 Cct/Act 0 Missense_Mutation C 18 CLCA2 SNP 1 C A 86662672 86662672 Baylor CNTNAP5 129684 hgsc.bcm.edu GRCh37 2 125175107 125175107 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000431078.1:c.469C>T p.Leu157= p.L157= ENST00000431078 NM_130773.3 157 Ctg/Ttg 0 Silent C 24 CNTNAP5 SNP 2 C T 124891577 124891577 Baylor DCHS1 8642 hgsc.bcm.edu GRCh37 11 6652624 6652624 + synonymous_variant Silent SNP C C G novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000299441.3:c.3690G>C p.Val1230= p.V1230= ENST00000299441 NM_003737.2 1230 gtG/gtC 0 Silent C 25 DCHS1 SNP 11 C G 6609200 6609200 Baylor DHX15 1665 hgsc.bcm.edu GRCh37 4 24543633 24543633 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000336812.4:c.1348C>T p.Arg450Ter p.R450* ENST00000336812 NM_001358.2 450 Cga/Tga 0 Nonsense_Mutation G 37 DHX15 SNP 4 G A 24152731 24152731 Baylor DNAH5 1767 hgsc.bcm.edu GRCh37 5 13714612 13714612 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265104.4:c.13027G>A p.Asp4343Asn p.D4343N ENST00000265104 NM_001369.2 4343 Gac/Aac 0 Missense_Mutation C 30 DNAH5 SNP 5 C T 13767612 13767612 Baylor DNAJC14 85406 hgsc.bcm.edu GRCh37 12 56215819 56215819 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357606.3:c.2051C>T p.Pro684Leu p.P684L ENST00000357606 684 cCc/cTc 0 Missense_Mutation G 43 DNAJC14 SNP 12 G A 54502086 54502086 Baylor DPPA2 151871 hgsc.bcm.edu GRCh37 3 109033361 109033361 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000478945.1:c.29A>G p.Lys10Arg p.K10R ENST00000478945 NM_138815.3 10 aAg/aGg 0 Missense_Mutation T 56 DPPA2 SNP 3 T C 110516051 110516051 Baylor DST 667 hgsc.bcm.edu GRCh37 6 56483632 56483632 + intron_variant Intron SNP G G T novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000244364.6:c.3319-4350C>A *1107* ENST00000244364 NM_015548.4 0 Missense_Mutation G 47 DST SNP 6 G T 56591591 56591591 Baylor EEF2K 29904 hgsc.bcm.edu GRCh37 16 22278032 22278032 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263026.5:c.1599C>G p.Tyr533Ter p.Y533* ENST00000263026 NM_013302.3 533 taC/taG 0 Nonsense_Mutation C 18 EEF2K SNP 16 C G 22185533 22185533 Baylor EPHB3 2049 hgsc.bcm.edu GRCh37 3 184290716 184290716 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000330394.2:c.608del p.Ile203ThrfsTer144 p.I203Tfs*144 ENST00000330394 NM_004443.3 203 aTc/ac 0 Frame_Shift_Del T 50 EPHB3 DEL 3 T - 185773410 185773410 Baylor FAM13C 220965 hgsc.bcm.edu GRCh37 10 61014175 61014175 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373868.2:c.1265A>G p.Lys422Arg p.K422R ENST00000373868 NM_198215.3 422 aAg/aGg 0 Missense_Mutation T 56 FAM13C SNP 10 T C 60684181 60684181 Baylor GABRA4 2557 hgsc.bcm.edu GRCh37 4 46973172 46973172 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264318.3:c.802A>T p.Ile268Phe p.I268F ENST00000264318 NM_000809.3 268 Att/Ttt 0 Missense_Mutation T 51 GABRA4 SNP 4 T A 46667929 46667929 Baylor GDA 9615 hgsc.bcm.edu GRCh37 9 74840652 74840652 + synonymous_variant Silent SNP T T C novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000238018.4:c.774T>C p.Tyr258= p.Y258= ENST00000238018 258 taT/taC 0 Silent T 49 GDA SNP 9 T C 74030472 74030472 Baylor GLI2 2736 hgsc.bcm.edu GRCh37 2 121732623 121732624 + frameshift_variant Frame_Shift_Del DEL GA GA - novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 GA GA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000452319.1:c.1308_1309del p.Glu436AspfsTer100 p.E436Dfs*100 ENST00000452319 436 GAg/g 0 Frame_Shift_Del GA 45 GLI2 DEL 2 GA - 121449094 121449093 Baylor GLI2 2736 hgsc.bcm.edu GRCh37 2 121732626 121732626 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000452319.1:c.1309A>C p.Thr437Pro p.T437P ENST00000452319 437 Acc/Ccc 0 Missense_Mutation A 10 GLI2 SNP 2 A C 121449096 121449096 Baylor GLT6D1 360203 hgsc.bcm.edu GRCh37 9 138516111 138516111 + synonymous_variant Silent SNP T T C novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371763.1:c.663A>G p.Gly221= p.G221= ENST00000371763 NM_182974.2 221 ggA/ggG 0 Silent T 58 GLT6D1 SNP 9 T C 137655932 137655932 Baylor GPR123 84435 hgsc.bcm.edu GRCh37 10 134912173 134912173 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000392607.3:c.161A>T p.His54Leu p.H54L ENST00000392607 NM_001083909.1 54 cAc/cTc 0 Missense_Mutation A 6 GPR123 SNP 10 A T 134762163 134762163 Baylor GPR98 84059 hgsc.bcm.edu GRCh37 5 89949495 89949495 + synonymous_variant Silent SNP T T C novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000405460.2:c.4104T>C p.Asn1368= p.N1368= ENST00000405460 NM_032119.3 1368 aaT/aaC 0 Silent T 51 GPR98 SNP 5 T C 89985251 89985251 Baylor GRIN2B 2904 hgsc.bcm.edu GRCh37 12 13722835 13722835 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C A A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000609686.1:c.2288G>T p.Gly763Val p.G763V ENST00000609686 NM_000834.3 763 gGc/gTc 0 Missense_Mutation C 26 GRIN2B SNP 12 A A 13614102 13614102 Baylor GYS1 2997 hgsc.bcm.edu GRCh37 19 49485525 49485525 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000323798.3:c.1049A>C p.Asn350Thr p.N350T ENST00000323798 NM_002103.4 350 aAc/aCc 0 Missense_Mutation T 60 GYS1 SNP 19 G G 54177337 54177337 Baylor MROH2B 133558 hgsc.bcm.edu GRCh37 5 41061678 41061678 + synonymous_variant Silent SNP G G T novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399564.4:c.609C>A p.Pro203= p.P203= ENST00000399564 NM_173489.4 203 ccC/ccA 0 Silent G 47 HEATR7B2 SNP 5 G T 41097435 41097435 Baylor HMCN1 83872 hgsc.bcm.edu GRCh37 1 186043908 186043908 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000271588.4:c.8175G>A p.Ala2725= p.A2725= ENST00000271588 NM_031935.2 2725 gcG/gcA 0 Silent G 37 HMCN1 SNP 1 G A 184310531 184310531 Baylor INTU 27152 hgsc.bcm.edu GRCh37 4 128564711 128564711 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000335251.6:c.182A>G p.Lys61Arg p.K61R ENST00000335251 NM_015693.3 61 aAa/aGa 0 Missense_Mutation A 1 INTU SNP 4 A G 128784161 128784161 Baylor ITPA 3704 hgsc.bcm.edu GRCh37 20 3194676 3194676 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380113.3:c.235G>T p.Ala79Ser p.A79S ENST00000380113 NM_181493.2 79 Gcc/Tcc 0 Missense_Mutation G 46 ITPA SNP 20 G T 3142676 3142676 Baylor ITPR3 3710 hgsc.bcm.edu GRCh37 6 33662828 33662828 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374316.5:c.7913A>G p.His2638Arg p.H2638R ENST00000374316 2638 cAc/cGc 0 Missense_Mutation A 6 ITPR3 SNP 6 A G 33770806 33770806 Baylor KRTAP5-5 439915 hgsc.bcm.edu GRCh37 11 1651120 1651120 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399676.2:c.50G>T p.Arg17Leu p.R17L ENST00000399676 NM_001001480.2 17 cGt/cTt 0 Missense_Mutation G 40 KRTAP5-5 SNP 11 G T 1607696 1607696 Baylor LINGO1 84894 hgsc.bcm.edu GRCh37 15 77907845 77907845 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355300.6:c.404C>T p.Pro135Leu p.P135L ENST00000355300 NM_032808.5 135 cCg/cTg 0 Missense_Mutation G 39 LINGO1 SNP 15 G A 75694900 75694900 Baylor MAPRE2 10982 hgsc.bcm.edu GRCh37 18 32650251 32650251 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000300249.5:c.215C>A p.Ser72Tyr p.S72Y ENST00000300249 NM_014268.3 72 tCt/tAt 0 Missense_Mutation C 32 MAPRE2 SNP 18 C A 30904249 30904249 Baylor NUP98 4928 hgsc.bcm.edu GRCh37 11 3752738 3752738 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000324932.7:c.1613G>A p.Arg538His p.R538H ENST00000324932 NM_139132.3 538 cGc/cAc 0 Missense_Mutation C 27 NUP98 SNP 11 C T 3709314 3709314 Baylor OPN1LW 5956 hgsc.bcm.edu GRCh37 X 153418460 153418460 + missense_variant Missense_Mutation SNP C C A rs713 Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369951.4:c.457C>A p.Leu153Met p.L153M ENST00000369951 NM_020061.4 153 Ctg/Atg 0 Missense_Mutation C 28 OPN1LW SNP 23 C A 153071654 153071654 Baylor PAQR8 85315 hgsc.bcm.edu GRCh37 6 52269046 52269046 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000442253.2:c.1035C>T p.Val345= p.V345= ENST00000442253 NM_133367.4 345 gtC/gtT 0 Silent C 29 PAQR8 SNP 6 C T 52377005 52377005 Baylor PGLYRP2 114770 hgsc.bcm.edu GRCh37 19 15582817 15582817 + synonymous_variant Silent SNP C C A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000340880.4:c.1227G>T p.Val409= p.V409= ENST00000340880 NM_052890.3 409 gtG/gtT 0 Silent C 25 PGLYRP2 SNP 19 C A 15443817 15443817 Baylor PLXDC1 57125 hgsc.bcm.edu GRCh37 17 37235379 37235379 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000315392.4:c.1028T>A p.Met343Lys p.M343K ENST00000315392 NM_020405.4 343 aTg/aAg 0 Missense_Mutation A 8 PLXDC1 SNP 17 A T 34488905 34488905 Baylor POGK 57645 hgsc.bcm.edu GRCh37 1 166818327 166818327 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367875.1:c.511T>A p.Tyr171Asn p.Y171N ENST00000367875 171 Tac/Aac 0 Missense_Mutation T 53 POGK SNP 1 T A 165084951 165084951 Baylor POLN 353497 hgsc.bcm.edu GRCh37 4 2209783 2209783 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000511885.2:c.645C>T p.Leu215= p.L215= ENST00000511885 215 ctC/ctT 0 Silent G 45 POLN SNP 4 G A 2179581 2179581 Baylor PRKAR2A 5576 hgsc.bcm.edu GRCh37 3 48789616 48789616 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265563.8:c.1074A>C p.Lys358Asn p.K358N ENST00000265563 NM_004157.2 358 aaA/aaC 0 Missense_Mutation T 52 PRKAR2A SNP 3 T G 48764620 48764620 Baylor PTPRN 5798 hgsc.bcm.edu GRCh37 2 220162006 220162006 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295718.2:c.2037C>T p.Cys679= p.C679= ENST00000295718 NM_002846.3 679 tgC/tgT 0 Silent G 38 PTPRN SNP 2 G A 219870250 219870250 Baylor PTPRZ1 5803 hgsc.bcm.edu GRCh37 7 121608023 121608023 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393386.2:c.143A>T p.Asn48Ile p.N48I ENST00000393386 NM_001206838.1 48 aAt/aTt 0 Missense_Mutation A 4 PTPRZ1 SNP 7 A T 121395259 121395259 Baylor RGS16 6004 hgsc.bcm.edu GRCh37 1 182571206 182571206 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367558.5:c.282C>T p.Phe94= p.F94= ENST00000367558 NM_002928.3 94 ttC/ttT 0 Silent G 33 RGS16 SNP 1 G A 180837829 180837829 Baylor RIPK3 11035 hgsc.bcm.edu GRCh37 14 24806668 24806668 + splice_acceptor_variant Splice_Site SNP T T A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000216274.5:c.901-2A>T p.X301_splice ENST00000216274 NM_006871.3 0 Splice_Site_SNP T 55 RIPK3 SNP 14 T A 23876508 23876508 Baylor RNF157 114804 hgsc.bcm.edu GRCh37 17 74152377 74152377 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269391.6:c.1439del p.Glu480GlyfsTer114 p.E480Gfs*114 ENST00000269391 NM_052916.2 480 gAg/gg 0 Frame_Shift_Del T 54 RNF157 DEL 17 T - 71663972 71663972 Baylor RTN2 6253 hgsc.bcm.edu GRCh37 19 45992121 45992121 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000245923.4:c.1365C>T p.Leu455= p.L455= ENST00000245923 NM_005619.4 455 ctC/ctT 0 Silent G 37 RTN2 SNP 19 G A 50683961 50683961 Baylor RTTN 25914 hgsc.bcm.edu GRCh37 18 67795701 67795701 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000255674.6:c.3036G>T p.Leu1012Phe p.L1012F ENST00000255674 NM_173630.3 1012 ttG/ttT 0 Missense_Mutation C 21 RTTN SNP 18 C A 65946681 65946681 Baylor SEPT4 5414 hgsc.bcm.edu GRCh37 17 56598150 56598150 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000457347.2:c.1376G>T p.Gly459Val p.G459V ENST00000457347 NM_001256782.1 459 gGg/gTg 0 Missense_Mutation C 22 SEPT4 SNP 17 C A 53953149 53953149 Baylor SLAIN1 122060 hgsc.bcm.edu GRCh37 13 78335212 78335212 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000488699.1:c.1172T>G p.Leu391Arg p.L391R ENST00000488699 NM_001040153.3 391 cTg/cGg 0 Missense_Mutation T 55 SLAIN1 SNP 13 G G 77233213 77233213 Baylor SMOC2 64094 hgsc.bcm.edu GRCh37 6 169008864 169008864 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354536.5:c.885G>A p.Thr295= p.T295= ENST00000354536 NM_022138.2 295 acG/acA 0 Silent G 39 SMOC2 SNP 6 G A 168750789 168750789 Baylor SND1 27044 hgsc.bcm.edu GRCh37 7 127528015 127528015 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354725.3:c.1404T>A p.Asp468Glu p.D468E ENST00000354725 NM_014390.2 468 gaT/gaA 0 Missense_Mutation T 51 SND1 SNP 7 T A 127315251 127315251 Baylor SRL 6345 hgsc.bcm.edu GRCh37 16 4242768 4242768 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399609.3:c.808G>A p.Gly270Arg p.G270R ENST00000399609 NM_001098814.1 270 Ggg/Agg 0 Missense_Mutation C 23 SRL SNP 16 C T 4182769 4182769 Baylor STAC3 246329 hgsc.bcm.edu GRCh37 12 57637954 57637954 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000332782.2:c.913C>T p.Arg305Trp p.R305W ENST00000332782 NM_145064.1 305 Cgg/Tgg 0 Missense_Mutation G 39 STAC3 SNP 12 G A 55924221 55924221 Baylor SUMF2 25870 hgsc.bcm.edu GRCh37 7 56132032 56132033 + protein_altering_variant In_Frame_Ins INS - - AGT novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000342190.6:c.85_86insAGT p.Pro29delinsGlnSer p.P29delinsQS ENST00000342190 NM_001130069.2 29 ccc/cAGTcc 0 In_Frame_Ins - 26 SUMF2 INS 7 - AGT 56099527 56099526 Baylor TEKT4 150483 hgsc.bcm.edu GRCh37 2 95540668 95540668 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295201.4:c.861C>T p.Ala287= p.A287= ENST00000295201 NM_144705.2 287 gcC/gcT 0 Silent C 23 TEKT4 SNP 2 C T 94904395 94904395 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7576852 7576852 + splice_donor_variant Splice_Site SNP C C A rs11575997 Unknown TCGA-10-0938-01 TCGA-10-0938-11 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000269305.4:c.993+1G>T p.X331_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 18 TP53 SNP 17 C A 7517577 7517577 Baylor TRIM71 131405 hgsc.bcm.edu GRCh37 3 32915464 32915464 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000383763.5:c.1007del p.Arg336HisfsTer6 p.R336Hfs*6 ENST00000383763 NM_001039111.1 336 cGa/ca 0 Frame_Shift_Del G 37 TRIM71 DEL 3 G - 32890468 32890468 Baylor ULK4 54986 hgsc.bcm.edu GRCh37 3 41497016 41497016 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000301831.4:c.3464C>T p.Thr1155Ile p.T1155I ENST00000301831 NM_017886.2 1155 aCa/aTa 0 Missense_Mutation G 48 ULK4 SNP 3 G A 41472020 41472020 Baylor WHSC1 7468 hgsc.bcm.edu GRCh37 4 1902766 1902766 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000382891.5:c.385del p.Thr129ProfsTer5 p.T129Pfs*5 ENST00000382891 NM_133335.3 129 Acc/cc 0 Frame_Shift_Del A 6 WHSC1 DEL 4 A - 1872564 1872564 Baylor XIAP 331 hgsc.bcm.edu GRCh37 X 123040922 123040922 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355640.3:c.1385T>A p.Phe462Tyr p.F462Y ENST00000355640 462 tTt/tAt 0 Missense_Mutation T 64 XIAP SNP 23 T A 122868603 122868603 Baylor YTHDF1 54915 hgsc.bcm.edu GRCh37 20 61834199 61834199 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370339.3:c.1093C>T p.His365Tyr p.H365Y ENST00000370339 NM_017798.3 365 Cac/Tac 0 Missense_Mutation G 47 YTHDF1 SNP 20 G A 61304644 61304644 Baylor ZFP41 286128 hgsc.bcm.edu GRCh37 8 144332451 144332451 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000330701.4:c.438G>A p.Gly146= p.G146= ENST00000330701 NM_173832.4 146 ggG/ggA 0 Silent G 43 ZFP41 SNP 8 G A 144403826 144403826 Baylor ZNF85 7639 hgsc.bcm.edu GRCh37 19 21131664 21131664 + missense_variant Missense_Mutation SNP G G T rs56231962 Unknown TCGA-10-0938-01 TCGA-10-0938-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328178.8:c.344G>T p.Arg115Ile p.R115I ENST00000328178 NM_003429.4 115 aGa/aTa 0 Missense_Mutation G 33 ZNF85 SNP 19 G T 20923504 20923504 Baylor HES2 54626 broad.mit.edu GRCh37 1 6479350 6479350 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000377834.4:c.192G>A p.Val64= p.V64= ENST00000377834 NM_019089.4 64 gtG/gtA 0 Silent C 25 HES2 SNP 1 C T 6401937 6401937 Broad PDPN 10630 broad.mit.edu GRCh37 1 13937005 13937005 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000294489.6:c.553T>C p.Ser185Pro p.S185P ENST00000294489 185 Tcc/Ccc 0 Missense_Mutation T 54 PDPN SNP 1 T C 13809592 13809592 Broad CSMD2 114784 broad.mit.edu GRCh37 1 34164526 34164526 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000241312.4:c.3632G>T p.Cys1211Phe p.C1211F ENST00000241312 1211 tGt/tTt 0 Missense_Mutation C 17 CSMD2 SNP 1 C A 33937113 33937113 Broad ZFP69B 65243 broad.mit.edu GRCh37 1 40923075 40923075 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000411995.2:c.400C>G p.Leu134Val p.L134V ENST00000411995 NM_023070.2 134 Ctg/Gtg 0 Missense_Mutation C 28 ZNF643 SNP 1 C G 40695662 40695662 Broad C1orf168 199920 broad.mit.edu GRCh37 1 57206386 57206386 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000343433.6:c.1687T>C p.Ser563Pro p.S563P ENST00000343433 NM_001004303.4 563 Tcg/Ccg 0 Missense_Mutation A 10 C1orf168 SNP 1 A G 56978974 56978974 Broad GIPC2 54810 broad.mit.edu GRCh37 1 78546423 78546423 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000370759.3:c.305G>A p.Gly102Glu p.G102E ENST00000370759 NM_017655.4 102 gGa/gAa 0 Missense_Mutation G 41 GIPC2 SNP 1 G A 78319011 78319011 Broad GTF2B 2959 broad.mit.edu GRCh37 1 89325691 89325691 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000370500.5:c.409C>T p.Arg137Ter p.R137* ENST00000370500 NM_001514.5 137 Cga/Tga 0 Nonsense_Mutation G 37 GTF2B SNP 1 G A 89098279 89098279 Broad LRRC8B 23507 broad.mit.edu GRCh37 1 90049602 90049602 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000330947.2:c.1393C>G p.Leu465Val p.L465V ENST00000330947 NM_001134476.1 465 Ctc/Gtc 0 Missense_Mutation C 24 LRRC8B SNP 1 C G 89822190 89822190 Broad LRRC8D 55144 broad.mit.edu GRCh37 1 90399924 90399924 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000337338.5:c.1297C>A p.Arg433Ser p.R433S ENST00000337338 NM_001134479.1 433 Cgt/Agt 0 Missense_Mutation C 27 LRRC8D SNP 1 C A 90172512 90172512 Broad TMED5 50999 broad.mit.edu GRCh37 1 93645704 93645704 + synonymous_variant Silent SNP G G C novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000370282.3:c.96C>G p.Leu32= p.L32= ENST00000370282 NM_016040.4 32 ctC/ctG 0 Silent G 37 TMED5 SNP 1 G C 93418292 93418292 Broad KIAA1324 57535 broad.mit.edu GRCh37 1 109707161 109707161 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000369939.3:c.315C>A p.Asp105Glu p.D105E ENST00000369939 NM_020775.4 105 gaC/gaA 0 Missense_Mutation C 18 KIAA1324 SNP 1 C A 109508684 109508684 Broad MOV10 4343 broad.mit.edu GRCh37 1 113236720 113236720 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000413052.2:c.1221G>T p.Gln407His p.Q407H ENST00000413052 NM_001130079.1 407 caG/caT 0 Missense_Mutation G 35 MOV10 SNP 1 G T 113038243 113038243 Broad ADAR 103 broad.mit.edu GRCh37 1 154574369 154574369 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000368474.4:c.749C>T p.Ala250Val p.A250V ENST00000368474 NM_001111.4 250 gCt/gTt 0 Missense_Mutation G 34 ADAR SNP 1 G A 152840993 152840993 Broad THBS3 7059 broad.mit.edu GRCh37 1 155172631 155172631 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000368378.3:c.929A>G p.Asn310Ser p.N310S ENST00000368378 NM_007112.4 310 aAc/aGc 0 Missense_Mutation T 60 THBS3 SNP 1 T C 153439255 153439255 Broad ASPM 259266 broad.mit.edu GRCh37 1 197115270 197115270 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000367409.4:c.297+1G>T p.X99_splice ENST00000367409 NM_018136.4 0 Splice_Site_SNP C 18 ASPM SNP 1 C A 195381893 195381893 Broad CDC42BPA 8476 broad.mit.edu GRCh37 1 227222460 227222460 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000366769.3:c.3267G>A p.Gln1089= p.Q1089= ENST00000366769 NM_003607.3 1089 caG/caA 0 Silent C 32 CDC42BPA SNP 1 C T 225289083 225289083 Broad VIM 7431 broad.mit.edu GRCh37 10 17277378 17277378 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000544301.1:c.1219G>A p.Glu407Lys p.E407K ENST00000544301 NM_003380.3 407 Gag/Aag 0 Missense_Mutation G 37 VIM SNP 10 G A 17317384 17317384 Broad GRID1 2894 broad.mit.edu GRCh37 10 87675942 87675942 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000327946.7:c.780+1G>A p.X260_splice ENST00000327946 NM_017551.2 0 Splice_Site_SNP C 18 GRID1 SNP 10 C T 87665922 87665922 Broad VWA2 340706 broad.mit.edu GRCh37 10 116048756 116048756 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000603594.1:c.1630C>A p.Pro544Thr p.P544T ENST00000603594 544 Ccc/Acc 0 Missense_Mutation C 26 VWA2 SNP 10 C A 116038746 116038746 Broad MUC2 4583 broad.mit.edu GRCh37 11 1082712 1082712 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000441003.2:c.1961G>A p.Cys654Tyr p.C654Y ENST00000441003 NM_002457.2 654 tGc/tAc 0 Missense_Mutation G 46 MUC2 SNP 11 G A 1072712 1072712 Broad TRIM5 85363 broad.mit.edu GRCh37 11 5701286 5701286 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000380034.3:c.122C>T p.Ala41Val p.A41V ENST00000380034 NM_033034.2 41 gCa/gTa 0 Missense_Mutation G 46 TRIM5 SNP 11 G A 5657862 5657862 Broad NELL1 4745 broad.mit.edu GRCh37 11 20968915 20968915 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000357134.5:c.1105C>A p.Pro369Thr p.P369T ENST00000357134 NM_201551.1 369 Cct/Act 0 Missense_Mutation C 30 NELL1 SNP 11 C A 20925491 20925491 Broad OR5M11 219487 broad.mit.edu GRCh37 11 56310387 56310387 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000528616.2:c.347C>A p.Ala116Glu p.A116E ENST00000528616 NM_001005245.1 116 gCa/gAa 0 Missense_Mutation G 46 OR5M11 SNP 11 G T 56066963 56066963 Broad AHNAK 79026 broad.mit.edu GRCh37 11 62288364 62288364 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000378024.4:c.13525A>C p.Met4509Leu p.M4509L ENST00000378024 NM_001620.2 4509 Atg/Ctg 0 Missense_Mutation T 50 AHNAK SNP 11 T G 62044940 62044940 Broad GPR152 390212 broad.mit.edu GRCh37 11 67219306 67219306 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000312457.2:c.890T>A p.Met297Lys p.M297K ENST00000312457 NM_206997.1 297 aTg/aAg 0 Missense_Mutation A 8 GPR152 SNP 11 A T 66975882 66975882 Broad UBE4A 9354 broad.mit.edu GRCh37 11 118253371 118253371 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000431736.2:c.2098C>G p.Gln700Glu p.Q700E ENST00000431736 700 Cag/Gag 0 Missense_Mutation C 29 UBE4A SNP 11 C G 117758581 117758581 Broad OR10S1 219873 broad.mit.edu GRCh37 11 123848124 123848124 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000531945.1:c.275C>T p.Pro92Leu p.P92L ENST00000531945 NM_001004474.1 92 cCc/cTc 0 Missense_Mutation G 43 OR10S1 SNP 11 G A 123353334 123353334 Broad PRICKLE1 144165 broad.mit.edu GRCh37 12 42853970 42853970 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000455697.1:c.2137A>G p.Ile713Val p.I713V ENST00000455697 NM_001144883.1 713 Ata/Gta 0 Missense_Mutation T 49 PRICKLE1 SNP 12 T C 41140237 41140237 Broad CALCOCO1 57658 broad.mit.edu GRCh37 12 54118947 54118947 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000550804.1:c.80A>G p.Asn27Ser p.N27S ENST00000550804 27 aAc/aGc 0 Missense_Mutation T 60 CALCOCO1 SNP 12 T C 52405214 52405214 Broad MDM1 56890 broad.mit.edu GRCh37 12 68696565 68696565 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000303145.7:c.1807G>T p.Asp603Tyr p.D603Y ENST00000303145 NM_017440.4 603 Gac/Tac 0 Missense_Mutation C 32 MDM1 SNP 12 C A 66982832 66982832 Broad TPH2 121278 broad.mit.edu GRCh37 12 72335393 72335393 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000333850.3:c.135C>T p.Asp45= p.D45= ENST00000333850 NM_173353.3 45 gaC/gaT 0 Silent C 19 TPH2 SNP 12 C T 70621660 70621660 Broad RPH3A 22895 broad.mit.edu GRCh37 12 113303276 113303276 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000389385.4:c.288C>T p.Asn96= p.N96= ENST00000389385 NM_001143854.1 96 aaC/aaT 0 Silent C 18 RPH3A SNP 12 C T 111787659 111787659 Broad GCN1L1 10985 broad.mit.edu GRCh37 12 120586117 120586117 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000300648.6:c.4580G>T p.Cys1527Phe p.C1527F ENST00000300648 NM_006836.1 1527 tGt/tTt 0 Missense_Mutation C 17 GCN1L1 SNP 12 C A 119070500 119070500 Broad DZIP1 22873 broad.mit.edu GRCh37 13 96242592 96242592 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000347108.3:c.1784G>A p.Arg595Gln p.R595Q ENST00000347108 595 cGa/cAa 0 Missense_Mutation C 31 DZIP1 SNP 13 C T 95040593 95040593 Broad MIPOL1 145282 broad.mit.edu GRCh37 14 37777574 37777574 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000327441.7:c.678C>A p.Asn226Lys p.N226K ENST00000327441 NM_138731.6 226 aaC/aaA 0 Missense_Mutation C 17 MIPOL1 SNP 14 C A 36847325 36847325 Broad SLC35F4 341880 broad.mit.edu GRCh37 14 58048029 58048029 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000339762.6:c.818T>A p.Leu273Gln p.L273Q ENST00000339762 273 cTg/cAg 0 Missense_Mutation A 7 SLC35F4 SNP 14 A T 57117782 57117782 Broad RYR3 6263 broad.mit.edu GRCh37 15 34032066 34032066 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000389232.4:c.7690C>T p.Pro2564Ser p.P2564S ENST00000389232 NM_001036.3 2564 Cct/Tct 0 Missense_Mutation C 26 RYR3 SNP 15 C T 31819358 31819358 Broad EXD1 161829 broad.mit.edu GRCh37 15 41488139 41488140 + missense_variant Missense_Mutation DNP TT TT AA novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000314992.5:c.456_457inv p.Arg152_Ile153delinsSerPhe p.R152_I153delinsSF ENST00000314992 NM_152596.2 152 agAAtt/agTTtt 0 Missense_Mutation TT 52 EXD1 DNP 15 TT AA 39275432 39275431 Broad JMJD7 100137047 broad.mit.edu GRCh37 15 42129131 42129131 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000397299.4:c.855C>G p.Cys285Trp p.C285W ENST00000397299 NM_001114632.1 285 tgC/tgG 0 Missense_Mutation C 25 JMJD7-PLA2G4B SNP 15 C G 39916423 39916423 Broad ZNF668 79759 broad.mit.edu GRCh37 16 31073562 31073562 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000539836.3:c.756C>A p.Cys252Ter p.C252* ENST00000539836 NM_001172669.1 252 tgC/tgA 0 Nonsense_Mutation G 38 ZNF668 SNP 16 G T 30981063 30981063 Broad NXN 64359 broad.mit.edu GRCh37 17 704246 704246 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000336868.3:c.1251C>T p.Ile417= p.I417= ENST00000336868 NM_022463.4 417 atC/atT 0 Silent G 37 NXN SNP 17 G A 650996 650996 Broad TP53 7157 broad.mit.edu GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 Missense_Mutation G 38 TP53 SNP 17 G A 7517846 7517846 Broad MYH13 8735 broad.mit.edu GRCh37 17 10250012 10250012 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000418404.3:c.1248G>A p.Gly416= p.G416= ENST00000418404 416 ggG/ggA 0 Silent C 26 MYH13 SNP 17 C T 10190737 10190737 Broad TRIM16 10626 broad.mit.edu GRCh37 17 15535915 15535915 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000455584.2:c.923C>A p.Ser308Ter p.S308* ENST00000455584 308 tCg/tAg 0 Nonsense_Mutation G 37 TRIM16 SNP 17 G T 15476640 15476640 Broad KRT13 3860 broad.mit.edu GRCh37 17 39658838 39658838 + synonymous_variant Silent SNP C C G novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000246635.3:c.1032G>C p.Gly344= p.G344= ENST00000246635 NM_153490.2 344 ggG/ggC 0 Silent C 26 KRT13 SNP 17 C G 36912364 36912364 Broad ATXN7L3 56970 broad.mit.edu GRCh37 17 42271894 42271894 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000454077.2:c.907T>G p.Trp303Gly p.W303G ENST00000454077 NM_020218.1 303 Tgg/Ggg 0 Missense_Mutation A 8 ATXN7L3 SNP 17 A C 39627420 39627420 Broad TBX4 9496 broad.mit.edu GRCh37 17 59534974 59534974 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000240335.1:c.263T>C p.Ile88Thr p.I88T ENST00000240335 NM_018488.2 88 aTc/aCc 0 Missense_Mutation T 50 TBX4 SNP 17 T C 56889756 56889756 Broad ABCA8 10351 broad.mit.edu GRCh37 17 66871410 66871410 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000269080.2:c.4502G>A p.Arg1501Gln p.R1501Q ENST00000269080 NM_007168.2 1501 cGg/cAg 0 Missense_Mutation C 23 ABCA8 SNP 17 C T 64383005 64383005 Broad FBN3 84467 broad.mit.edu GRCh37 19 8138141 8138141 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000600128.1:c.7743C>A p.Ser2581Arg p.S2581R ENST00000600128 2581 agC/agA 0 Missense_Mutation G 38 FBN3 SNP 19 G T 8044141 8044141 Broad COL5A3 50509 broad.mit.edu GRCh37 19 10106274 10106274 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000264828.3:c.1553G>A p.Gly518Glu p.G518E ENST00000264828 NM_015719.3 518 gGa/gAa 0 Missense_Mutation C 30 COL5A3 SNP 19 C T 9967274 9967274 Broad SLC1A6 6511 broad.mit.edu GRCh37 19 15083684 15083684 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000221742.3:c.39C>T p.Ser13= p.S13= ENST00000221742 NM_005071.2 13 agC/agT 0 Silent G 38 SLC1A6 SNP 19 G A 14944684 14944684 Broad DMKN 93099 broad.mit.edu GRCh37 19 35992789 35992789 + intron_variant Intron SNP G G T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000339686.3:c.1239+249C>A *413* ENST00000339686 NM_033317.4 0 Missense_Mutation G 42 DMKN SNP 19 G T 40684629 40684629 Broad FBXO27 126433 broad.mit.edu GRCh37 19 39517637 39517637 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000292853.4:c.581C>A p.Ala194Asp p.A194D ENST00000292853 NM_178820.3 194 gCc/gAc 0 Missense_Mutation G 42 FBXO27 SNP 19 G T 44209477 44209477 Broad CYP2A13 1553 broad.mit.edu GRCh37 19 41595993 41595993 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000330436.3:c.385C>G p.Arg129Gly p.R129G ENST00000330436 NM_000766.4 129 Cgc/Ggc 0 Missense_Mutation C 27 CYP2A13 SNP 19 C G 46287833 46287833 Broad SIGLEC11 114132 broad.mit.edu GRCh37 19 50463999 50463999 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000447370.2:c.270C>G p.Asn90Lys p.N90K ENST00000447370 NM_052884.2 90 aaC/aaG 0 Missense_Mutation G 44 SIGLEC11 SNP 19 G C 55155811 55155811 Broad NLRP4 147945 broad.mit.edu GRCh37 19 56370584 56370584 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000301295.6:c.1825G>T p.Val609Phe p.V609F ENST00000301295 NM_134444.4 609 Gtc/Ttc 0 Missense_Mutation G 48 NLRP4 SNP 19 G T 61062396 61062396 Broad NLRP4 147945 broad.mit.edu GRCh37 19 56373461 56373461 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000301295.6:c.2122C>T p.Arg708Cys p.R708C ENST00000301295 NM_134444.4 708 Cgt/Tgt 0 Missense_Mutation C 31 NLRP4 SNP 19 C T 61065273 61065273 Broad NPAS2 4862 broad.mit.edu GRCh37 2 101580581 101580581 + synonymous_variant Silent SNP A A G novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000335681.5:c.660A>G p.Leu220= p.L220= ENST00000335681 NM_002518.3 220 ctA/ctG 0 Silent A 15 NPAS2 SNP 2 A G 100947013 100947013 Broad CACNB4 785 broad.mit.edu GRCh37 2 152728962 152728962 + synonymous_variant Silent SNP A A T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000539935.1:c.567T>A p.Ser189= p.S189= ENST00000539935 NM_001145798.1 189 tcT/tcA 0 Silent A 7 CACNB4 SNP 2 A T 152437208 152437208 Broad TTN 7273 broad.mit.edu GRCh37 2 179612115 179612115 + intron_variant Intron SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000589042.1:c.11312-5467C>T *3771* ENST00000589042 NM_001267550.1 0 Silent G 36 TTN SNP 2 G A 179320360 179320360 Broad BOLL 66037 broad.mit.edu GRCh37 2 198640466 198640466 + splice_acceptor_variant Splice_Site SNP T T G novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000321801.7:c.313-2A>C p.X105_splice ENST00000321801 NM_197970.2 0 Splice_Site_SNP T 53 BOLL SNP 2 T G 198348711 198348711 Broad ZNF280B 140883 broad.mit.edu GRCh37 22 22843712 22843712 + synonymous_variant Silent SNP T T C novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000360412.2:c.12A>G p.Ser4= p.S4= ENST00000360412 NM_080764.2 4 tcA/tcG 0 Silent T 51 ZNF280B SNP 22 T C 21173712 21173712 Broad TRIOBP 11078 broad.mit.edu GRCh37 22 38131307 38131307 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000406386.3:c.4964C>G p.Pro1655Arg p.P1655R ENST00000406386 NM_001039141.2 1655 cCc/cGc 0 Missense_Mutation C 22 TRIOBP SNP 22 C G 36461253 36461253 Broad TUBGCP6 85378 broad.mit.edu GRCh37 22 50662668 50662669 + missense_variant Missense_Mutation DNP CC CC TG novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000248846.5:c.2171_2172delinsCA p.Arg724Thr p.R724T ENST00000248846 724 aGG/aCA 0 Missense_Mutation CC 26 TUBGCP6 DNP 22 CC TG 49004796 49004795 Broad CPNE9 151835 broad.mit.edu GRCh37 3 9760228 9760228 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000383832.3:c.1183C>T p.Arg395Cys p.R395C ENST00000383832 NM_153635.2 395 Cgc/Tgc 0 Missense_Mutation C 27 CPNE9 SNP 3 C T 9735228 9735228 Broad HDAC11 79885 broad.mit.edu GRCh37 3 13538271 13538271 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000295757.3:c.288C>T p.Pro96= p.P96= ENST00000295757 NM_024827.3 96 ccC/ccT 0 Silent C 22 HDAC11 SNP 3 C T 13513271 13513271 Broad MST1R 4486 broad.mit.edu GRCh37 3 49932680 49932680 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000296474.3:c.3191C>G p.Ser1064Cys p.S1064C ENST00000296474 NM_002447.2 1064 tCt/tGt 0 Missense_Mutation G 33 MST1R SNP 3 G C 49907684 49907684 Broad NRROS 375387 broad.mit.edu GRCh37 3 196387726 196387726 + synonymous_variant Silent SNP G G C novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000328557.4:c.1212G>C p.Leu404= p.L404= ENST00000328557 NM_198565.1 404 ctG/ctC 0 Silent G 46 LRRC33 SNP 3 G C 197872123 197872123 Broad PCDH7 5099 broad.mit.edu GRCh37 4 30725119 30725119 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000543491.1:c.2075G>A p.Gly692Glu p.G692E ENST00000543491 692 gGg/gAg 0 Missense_Mutation G 43 PCDH7 SNP 4 G A 30334217 30334217 Broad APBB2 323 broad.mit.edu GRCh37 4 40829237 40829237 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000508593.1:c.1645-1G>A p.X549_splice ENST00000508593 0 Splice_Site_SNP C 32 APBB2 SNP 4 C T 40523994 40523994 Broad PHOX2B 8929 broad.mit.edu GRCh37 4 41749461 41749461 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000226382.2:c.334G>C p.Glu112Gln p.E112Q ENST00000226382 NM_003924.3 112 Gag/Cag 0 Missense_Mutation C 32 PHOX2B SNP 4 C G 41444218 41444218 Broad ELF2 1998 broad.mit.edu GRCh37 4 139980194 139980194 + synonymous_variant Silent SNP T T C novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000394235.2:c.1689A>G p.Ser563= p.S563= ENST00000394235 563 tcA/tcG 0 Silent T 55 ELF2 SNP 4 T C 140199644 140199644 Broad ASIC5 51802 broad.mit.edu GRCh37 4 156784635 156784635 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000537611.2:c.312G>T p.Met104Ile p.M104I ENST00000537611 NM_017419.2 104 atG/atT 0 Missense_Mutation C 21 ACCN5 SNP 4 C A 157004085 157004085 Broad CLPTM1L 81037 broad.mit.edu GRCh37 5 1344548 1344548 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000320895.5:c.181A>G p.Thr61Ala p.T61A ENST00000320895 NM_030782.3 61 Acg/Gcg 0 Missense_Mutation T 58 CLPTM1L SNP 5 T C 1397548 1397548 Broad NR3C1 2908 broad.mit.edu GRCh37 5 142661473 142661473 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000231509.3:c.2318T>C p.Leu773Pro p.L773P ENST00000231509 773 cTt/cCt 0 Missense_Mutation A 3 NR3C1 SNP 5 A G 142641666 142641666 Broad CPLX2 10814 broad.mit.edu GRCh37 5 175305921 175305921 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000359546.4:c.42G>C p.Lys14Asn p.K14N ENST00000359546 NM_006650.3 14 aaG/aaC 0 Missense_Mutation G 35 CPLX2 SNP 5 G C 175238527 175238527 Broad BACH2 60468 broad.mit.edu GRCh37 6 90642385 90642385 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000257749.4:c.2268G>A p.Ala756= p.A756= ENST00000257749 NM_021813.2 756 gcG/gcA 0 Silent C 23 BACH2 SNP 6 C T 90699106 90699106 Broad CARD11 84433 broad.mit.edu GRCh37 7 2962385 2962385 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000396946.4:c.2152T>G p.Cys718Gly p.C718G ENST00000396946 NM_032415.4 718 Tgc/Ggc 0 Missense_Mutation A 7 CARD11 SNP 7 A C 2928911 2928911 Broad HDAC9 9734 broad.mit.edu GRCh37 7 18668986 18668986 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000441542.2:c.678C>T p.Asn226= p.N226= ENST00000441542 NM_178425.2 226 aaC/aaT 0 Silent C 20 HDAC9 SNP 7 C T 18635511 18635511 Broad NPC1L1 29881 broad.mit.edu GRCh37 7 44575901 44575901 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000289547.4:c.1808T>C p.Phe603Ser p.F603S ENST00000289547 NM_013389.2 603 tTc/tCc 0 Missense_Mutation A 9 NPC1L1 SNP 7 A G 44542426 44542426 Broad ADCY1 107 broad.mit.edu GRCh37 7 45750217 45750217 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000297323.7:c.3023G>A p.Arg1008Gln p.R1008Q ENST00000297323 NM_021116.2 1008 cGg/cAg 0 Missense_Mutation G 39 ADCY1 SNP 7 G A 45716742 45716742 Broad PARP12 64761 broad.mit.edu GRCh37 7 139727147 139727147 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000263549.3:c.1557C>T p.Arg519= p.R519= ENST00000263549 NM_022750.2 519 cgC/cgT 0 Silent G 46 PARP12 SNP 7 G A 139373616 139373616 Broad OR2A5 393046 broad.mit.edu GRCh37 7 143748085 143748085 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000408906.2:c.591G>A p.Val197= p.V197= ENST00000408906 NM_012365.1 197 gtG/gtA 0 Silent G 47 OR2A5 SNP 7 G A 143379018 143379018 Broad FRMPD1 22844 broad.mit.edu GRCh37 9 37745741 37745741 + missense_variant Missense_Mutation SNP G G T rs62640014 Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000539465.1:c.3712G>T p.Asp1238Tyr p.D1238Y ENST00000539465 1238 Gat/Tat 0 Missense_Mutation G 33 FRMPD1 SNP 9 G T 37735741 37735741 Broad SPATA31A7 26165 broad.mit.edu GRCh37 9 65507538 65507538 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000355045.2:c.277G>A p.Glu93Lys p.E93K ENST00000355045 NM_015667.2 93 Gag/Aag 0 Missense_Mutation C 30 FAM75A7 SNP 9 C T 65247358 65247358 Broad OMD 4958 broad.mit.edu GRCh37 9 95179820 95179820 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000375550.4:c.21A>G p.Ile7Met p.I7M ENST00000375550 NM_005014.2 7 atA/atG 0 Missense_Mutation T 49 OMD SNP 9 T C 94219641 94219641 Broad HSPA5 3309 broad.mit.edu GRCh37 9 127998913 127998913 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000324460.6:c.1923C>T p.Pro641= p.P641= ENST00000324460 NM_005347.4 641 ccC/ccT 0 Silent G 43 HSPA5 SNP 9 G A 127038734 127038734 Broad GPKOW 27238 broad.mit.edu GRCh37 X 48979003 48979003 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000156109.5:c.300G>A p.Val100= p.V100= ENST00000156109 NM_015698.4 100 gtG/gtA 0 Silent C 21 GPKOW SNP 23 C T 48865947 48865947 Broad CACNA1F 778 broad.mit.edu GRCh37 X 49083071 49083071 + splice_donor_variant Splice_Site SNP C C G novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000376265.2:c.1402+1G>C p.X468_splice ENST00000376265 NM_005183.2 0 Splice_Site_SNP C 18 CACNA1F SNP 23 C G 48970015 48970015 Broad IQSEC2 23096 broad.mit.edu GRCh37 X 53280309 53280309 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000396435.3:c.1449G>A p.Pro483= p.P483= ENST00000396435 NM_001111125.2 483 ccG/ccA 0 Silent C 19 IQSEC2 SNP 23 C T 53297034 53297034 Broad AMMECR1 9949 broad.mit.edu GRCh37 X 109561158 109561158 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000262844.5:c.142G>T p.Gly48Cys p.G48C ENST00000262844 NM_015365.2 48 Ggc/Tgc 0 Missense_Mutation C 24 AMMECR1 SNP 23 C A 109447814 109447814 Broad CAPN6 827 broad.mit.edu GRCh37 X 110491921 110491921 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000324068.1:c.1360C>T p.Arg454Cys p.R454C ENST00000324068 NM_014289.3 454 Cgc/Tgc 0 Missense_Mutation G 39 CAPN6 SNP 23 G A 110378577 110378577 Broad GABRE 2564 broad.mit.edu GRCh37 X 151138672 151138672 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01 TCGA-59-2348-11 Unknown Unknown Unknown x x x ENST00000370328.3:c.259C>T p.Arg87Cys p.R87C ENST00000370328 NM_004961.3 87 Cgc/Tgc 0 Missense_Mutation G 38 GABRE SNP 23 G A 150889328 150889328 Broad PROKR2 128674 genome.wustl.edu GRCh37 20 5282949 5282949 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000546004.1:c.892C>T p.Arg298Cys p.R298C ENST00000546004 298 Cgt/Tgt 0 Missense_Mutation G 37 PROKR2 SNP 20 G A 5230949 5230949 WashU TP53 7157 genome.wustl.edu GRCh37 17 7579592 7579592 + splice_acceptor_variant Splice_Site SNP T T A novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.97-2A>T p.X33_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP T 55 TP53 SNP 17 T A 7520317 7520317 WashU PLCB4 5332 genome.wustl.edu GRCh37 20 9288464 9288464 + start_lost Translation_Start_Site SNP G G A novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378501.2:c.3G>A p.Met1? p.M1? ENST00000378501 NM_000933.3 1 atG/atA 0 Missense_Mutation G 47 PLCB4 SNP 20 G A 9236464 9236464 WashU RP11-22B23.1 genome.wustl.edu GRCh37 12 9459809 9459809 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000341155.7:n.2024G>C *675* ENST00000341155 0 Missense_Mutation G 45 ENSG00000111788 SNP 12 G C 9351076 9351076 WashU RP11-726G1.1 408186 genome.wustl.edu GRCh37 12 9713438 9713438 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000520314.1:n.633T>C *211* ENST00000520314 0 Silent T 52 OVOS SNP 12 T C 9604705 9604705 WashU ESF1 51575 genome.wustl.edu GRCh37 20 13753204 13753204 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000202816.1:c.1207G>A p.Val403Ile p.V403I ENST00000202816 NM_001276380.1 403 Gta/Ata 0 Missense_Mutation C 20 ESF1 SNP 20 C T 13701204 13701204 WashU ANKRD20A11P 391267 genome.wustl.edu GRCh37 21 15306303 15306303 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000451663.1:n.2285G>T *762* ENST00000451663 0 Missense_Mutation C 32 ENSG00000215561 SNP 21 C A 14228174 14228174 WashU PTPRO 5800 genome.wustl.edu GRCh37 12 15661551 15661551 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000281171.4:c.1314C>T p.His438= p.H438= ENST00000281171 NM_030667.2 438 caC/caT 0 Silent C 19 PTPRO SNP 12 C T 15552818 15552818 WashU RSC1A1 6248 genome.wustl.edu GRCh37 1 15986577 15986577 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000345034.1:c.214C>G p.Leu72Val p.L72V ENST00000345034 NM_006511.1 72 Ctt/Gtt 0 Missense_Mutation C 32 RSC1A1 SNP 1 C G 15859164 15859164 WashU IGHV3OR15-7 646057 genome.wustl.edu GRCh37 15 20192941 20192941 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000558565.2:c.327C>T p.Thr109= p.T109= ENST00000558565 109 acC/acT 0 Silent G 39 LOC646057 SNP 15 G A 18452955 18452955 WashU CHEK2 11200 genome.wustl.edu GRCh37 22 29092947 29092947 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328354.6:c.1037G>A p.Arg346His p.R346H ENST00000328354 NM_007194.3 346 cGt/cAt 0 Missense_Mutation C 19 CHEK2 SNP 22 T T 27422947 27422947 WashU ZNF267 10308 genome.wustl.edu GRCh37 16 31927249 31927249 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300870.10:c.1679G>C p.Ser560Thr p.S560T ENST00000300870 NM_003414.5 560 aGt/aCt 0 Missense_Mutation G 36 ZNF267 SNP 16 G C 31834750 31834750 WashU FHOD3 80206 genome.wustl.edu GRCh37 18 34191995 34191995 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 C C A A A A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257209.4:c.894C>A p.Ser298= p.S298= ENST00000257209 NM_025135.2 298 tcC/tcA 0 Silent C 22 FHOD3 SNP 18 A A 32445993 32445993 WashU CUL7 9820 genome.wustl.edu GRCh37 6 43019995 43019995 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000535468.1:c.688C>T p.Arg230Cys p.R230C ENST00000535468 NM_014780.4 230 Cgc/Tgc 0 Missense_Mutation G 37 CUL7 SNP 6 G A 43127973 43127973 WashU PSMC3 5702 genome.wustl.edu GRCh37 11 47441885 47441885 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298852.3:c.1057G>T p.Glu353Ter p.E353* ENST00000298852 NM_002804.4 353 Gag/Tag 0 Nonsense_Mutation C 32 PSMC3 SNP 11 C A 47398461 47398461 WashU VEZF1 7716 genome.wustl.edu GRCh37 17 56056655 56056655 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000581208.1:c.996C>T p.Thr332= p.T332= ENST00000581208 NM_007146.2 332 acC/acT 0 Silent G 47 VEZF1 SNP 17 G A 53411654 53411654 WashU ALPK2 115701 genome.wustl.edu GRCh37 18 56204113 56204113 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000361673.3:c.3306G>A p.Gln1102= p.Q1102= ENST00000361673 NM_052947.3 1102 caG/caA 0 Silent C 24 ALPK2 SNP 18 C T 54355093 54355093 WashU ZNF716 441234 genome.wustl.edu GRCh37 7 57528776 57528776 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000420713.1:c.609T>G p.His203Gln p.H203Q ENST00000420713 NM_001159279.1 203 caT/caG 0 Missense_Mutation T 50 ZNF716 SNP 7 T G 57532718 57532718 WashU UBXN2B 137886 genome.wustl.edu GRCh37 8 59352253 59352253 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399598.2:c.595G>A p.Asp199Asn p.D199N ENST00000399598 NM_001077619.1 199 Gat/Aat 0 Missense_Mutation G 41 UBXN2B SNP 8 G A 59514807 59514807 WashU IPMK 253430 genome.wustl.edu GRCh37 10 59986812 59986812 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000373935.3:c.365C>T p.Ala122Val p.A122V ENST00000373935 NM_152230.4 122 gCa/gTa 0 Missense_Mutation G 46 IPMK SNP 10 G A 59656818 59656818 WashU KIR2DL3 3804 genome.wustl.edu GRCh37 19 55263912 55263912 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342376.3:c.967C>T p.Pro323Ser p.P323S ENST00000342376 NM_015868.2 323 Ccc/Tcc 0 Missense_Mutation C 26 KIR2DL3 SNP 19 C T 59955724 59955724 WashU NT5E 4907 genome.wustl.edu GRCh37 6 86197130 86197130 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257770.3:c.1027A>G p.Ile343Val p.I343V ENST00000257770 NM_002526.3 343 Att/Gtt 0 Missense_Mutation A 4 NT5E SNP 6 A G 86253849 86253849 WashU DCN 1634 genome.wustl.edu GRCh37 12 91558418 91558418 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000052754.5:c.288C>A p.Ile96= p.I96= ENST00000052754 NM_001920.3 96 atC/atA 0 Silent G 45 DCN SNP 12 G T 90082549 90082549 WashU SERPINA5 5104 genome.wustl.edu GRCh37 14 95058502 95058502 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329597.7:c.1147G>A p.Val383Met p.V383M ENST00000329597 NM_000624.5 383 Gtg/Atg 0 Missense_Mutation G 36 SERPINA5 SNP 14 G A 94128255 94128255 WashU DPY19L4 286148 genome.wustl.edu GRCh37 8 95792594 95792594 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000414645.2:c.1583T>A p.Ile528Asn p.I528N ENST00000414645 NM_181787.2 528 aTt/aAt 0 Missense_Mutation T 52 DPY19L4 SNP 8 T A 95861770 95861770 WashU MUM1L1 139221 genome.wustl.edu GRCh37 X 105451021 105451021 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337685.2:c.1596C>G p.Thr532= p.T532= ENST00000337685 NM_152423.4 532 acC/acG 0 Silent C 21 MUM1L1 SNP 23 C G 105337677 105337677 WashU ABHD13 84945 genome.wustl.edu GRCh37 13 108881820 108881820 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375898.3:c.254C>T p.Pro85Leu p.P85L ENST00000375898 NM_032859.2 85 cCa/cTa 0 Missense_Mutation C 21 ABHD13 SNP 13 C T 107679821 107679821 WashU PKNOX2 63876 genome.wustl.edu GRCh37 11 125237800 125237800 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000298282.9:c.146C>T p.Ser49Leu p.S49L ENST00000298282 NM_022062.2 49 tCa/tTa 0 Missense_Mutation C 29 PKNOX2 SNP 11 C T 124743010 124743010 WashU SYCE1 93426 genome.wustl.edu GRCh37 10 135369534 135369534 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000343131.5:c.546A>T p.Ala182= p.A182= ENST00000343131 NM_001143764.1 182 gcA/gcT 0 Silent T 63 SYCE1 SNP 10 T A 135219524 135219524 WashU KLHL24 54800 genome.wustl.edu GRCh37 3 183368847 183368847 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000454652.2:c.703C>T p.Arg235Cys p.R235C ENST00000454652 NM_017644.3 235 Cgt/Tgt 0 Missense_Mutation C 27 KLHL24 SNP 3 C T 184851541 184851541 WashU FAT1 2195 genome.wustl.edu GRCh37 4 187540875 187540875 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000441802.2:c.6865G>A p.Ala2289Thr p.A2289T ENST00000441802 NM_005245.3 2289 Gcg/Acg 0 Missense_Mutation C 25 FAT1 SNP 4 C T 187777869 187777869 WashU NF1 4763 genome.wustl.edu GRCh37 17 29663789 29663790 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000358273.4:c.6285dup p.Val2096CysfsTer24 p.V2096Cfs*24 ENST00000358273 NM_001042492.2 2095 gat/gaTt 0 Frame_Shift_Ins - 12 NF1 INS 17 - T 26687916 26687915 WashU BRCA2 675 genome.wustl.edu GRCh37 13 32972626 32972626 + stop_gained Nonsense_Mutation SNP A A T rs11571833 byCluster TCGA-24-1562-01 TCGA-24-1562-10 A T A T A T Unknown Valid Germline Phase_III Capture 454_PCR_WGA;Sanger_PCR_WGA dbGAP Illumina GAIIx ENST00000380152.3:c.9976A>T p.Lys3326Ter p.K3326* ENST00000380152 3326 Aaa/Taa 0 Nonsense_Mutation A 13 BRCA2 SNP 13 A T 31870626 31870626 WashU XPO6 23214 genome.wustl.edu GRCh37 16 28123239 28123239 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-24-1562-01 TCGA-24-1562-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000304658.5:c.2240G>A p.Arg747His p.R747H ENST00000304658 NM_015171.3 747 cGc/cAc 0 Missense_Mutation C 27 XPO6 SNP 16 C T 28030740 28030740 WashU TMEM43 79188 genome.wustl.edu GRCh37 3 14183263 14183263 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01 TCGA-24-1562-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306077.4:c.1171C>T p.Arg391Trp p.R391W ENST00000306077 NM_024334.2 391 Cgg/Tgg 0 Missense_Mutation C 31 TMEM43 SNP 3 C T 14158264 14158264 WashU TNPO2 30000 genome.wustl.edu GRCh37 19 12814323 12814323 + missense_variant Missense_Mutation SNP G G C Unknown TCGA-24-1562-01 TCGA-24-1562-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000425528.1:c.2128C>G p.Leu710Val p.L710V ENST00000425528 710 Ctg/Gtg 0 Missense_Mutation G 33 TNPO2 SNP 19 G C 12675323 12675323 WashU PPL 5493 genome.wustl.edu GRCh37 16 4937135 4937135 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000345988.2:c.2607+1G>A p.X869_splice ENST00000345988 NM_002705.4 0 Splice_Site_SNP C 18 PPL SNP 16 C T 4877136 4877136 WashU SCNN1G 6340 genome.wustl.edu GRCh37 16 23205520 23205520 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300061.2:c.838C>T p.His280Tyr p.H280Y ENST00000300061 NM_001039.3 280 Cat/Tat 0 Missense_Mutation C 25 SCNN1G SNP 16 C T 23113021 23113021 WashU GSX1 219409 genome.wustl.edu GRCh37 13 28368002 28368002 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302945.2:c.712A>T p.Lys238Ter p.K238* ENST00000302945 NM_145657.1 238 Aag/Tag 0 Nonsense_Mutation A 5 GSX1 SNP 13 A T 27266002 27266002 WashU IGKV1OR10-1 genome.wustl.edu GRCh37 10 42680948 42680948 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000442306.2:n.38G>C *13* ENST00000442306 0 Missense_Mutation G 33 LOC642424 SNP 10 G C 42000954 42000954 WashU DNAJC14 85406 genome.wustl.edu GRCh37 12 56222202 56222202 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357606.3:c.241C>T p.Pro81Ser p.P81S ENST00000357606 81 Cca/Tca 0 Missense_Mutation G 41 DNAJC14 SNP 12 G A 54508469 54508469 WashU ZNF479 90827 genome.wustl.edu GRCh37 7 57187711 57187711 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331162.4:c.1411G>A p.Gly471Ser p.G471S ENST00000331162 NM_033273.1 471 Ggc/Agc 0 Missense_Mutation C 21 ZNF479 SNP 7 C T 57191653 57191653 WashU RARRES3 5920 genome.wustl.edu GRCh37 11 63306999 63306999 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000255688.3:c.21G>T p.Glu7Asp p.E7D ENST00000255688 NM_004585.3 7 gaG/gaT 0 Missense_Mutation G 34 RARRES3 SNP 11 G T 63063575 63063575 WashU GLG1 2734 genome.wustl.edu GRCh37 16 74485996 74485996 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000205061.5:c.3570A>C p.Lys1190Asn p.K1190N ENST00000205061 NM_012201.5 1190 aaA/aaC 0 Missense_Mutation T 56 GLG1 SNP 16 G G 73043497 73043497 WashU LIMK1 3984 genome.wustl.edu GRCh37 7 73520519 73520519 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000336180.2:c.827C>A p.Pro276Gln p.P276Q ENST00000336180 NM_002314.3 276 cCg/cAg 0 Missense_Mutation C 23 LIMK1 SNP 7 C A 73158455 73158455 WashU PI15 51050 genome.wustl.edu GRCh37 8 75756233 75756233 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260113.2:c.291T>A p.Leu97= p.L97= ENST00000260113 NM_015886.3 97 ctT/ctA 0 Silent T 63 PI15 SNP 8 T A 75918788 75918788 WashU CYLC1 1538 genome.wustl.edu GRCh37 X 83128902 83128902 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329312.4:c.1186A>C p.Lys396Gln p.K396Q ENST00000329312 NM_021118.2 396 Aag/Cag 0 Missense_Mutation A 5 CYLC1 SNP 23 A C 83015558 83015558 WashU ZNF592 9640 genome.wustl.edu GRCh37 15 85327688 85327688 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299927.3:c.1782C>T p.Asp594= p.D594= ENST00000299927 594 gaC/gaT 0 Silent C 19 ZNF592 SNP 15 C T 83128692 83128692 WashU CDC14B 8555 genome.wustl.edu GRCh37 9 99266068 99266068 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375241.1:c.1464C>T p.Leu488= p.L488= ENST00000375241 NM_003671.3 488 ctC/ctT 0 Silent G 33 CDC14B SNP 9 G A 98305889 98305889 WashU ARMCX5 64860 genome.wustl.edu GRCh37 X 101858100 101858100 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000604957.1:c.1031C>G p.Thr344Ser p.T344S ENST00000604957 NM_001168478.1 344 aCt/aGt 0 Missense_Mutation C 20 ARMCX5 SNP 23 C G 101744756 101744756 WashU TDG 6996 genome.wustl.edu GRCh37 12 104379399 104379399 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392872.3:c.983C>T p.Ala328Val p.A328V ENST00000392872 NM_003211.4 328 gCt/gTt 0 Missense_Mutation C 28 TDG SNP 12 C T 102903529 102903529 WashU LPAR1 1902 genome.wustl.edu GRCh37 9 113704270 113704270 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374431.3:c.224A>G p.Tyr75Cys p.Y75C ENST00000374431 NM_057159.2 75 tAt/tGt 0 Missense_Mutation T 49 LPAR1 SNP 9 T C 112744091 112744091 WashU ATRNL1 26033 genome.wustl.edu GRCh37 10 117154169 117154169 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355044.3:c.3176C>G p.Ala1059Gly p.A1059G ENST00000355044 NM_207303.2 1059 gCt/gGt 0 Missense_Mutation C 28 ATRNL1 SNP 10 C G 117144159 117144159 WashU PTPRN2 5799 genome.wustl.edu GRCh37 7 157387981 157387981 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389418.4:c.2445G>A p.Ala815= p.A815= ENST00000389418 NM_002847.3 815 gcG/gcA 0 Silent C 19 PTPRN2 SNP 7 C T 157080742 157080742 WashU ILDR2 387597 genome.wustl.edu GRCh37 1 166905934 166905934 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000271417.3:c.597C>T p.Leu199= p.L199= ENST00000271417 NM_199351.2 199 ctC/ctT 0 Silent G 33 ILDR2 SNP 1 G A 165172558 165172558 WashU ASTN1 460 genome.wustl.edu GRCh37 1 176992701 176992701 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361833.2:c.1277G>T p.Arg426Leu p.R426L ENST00000361833 426 cGc/cTc 0 Missense_Mutation C 27 ASTN1 SNP 1 C A 175259324 175259324 WashU HMCN1 83872 genome.wustl.edu GRCh37 1 186092234 186092234 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271588.4:c.12381C>T p.Val4127= p.V4127= ENST00000271588 NM_031935.2 4127 gtC/gtT 0 Silent C 30 HMCN1 SNP 1 C T 184358857 184358857 WashU MAP1LC3C 440738 genome.wustl.edu GRCh37 1 242159668 242159668 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357246.3:c.241G>A p.Ala81Thr p.A81T ENST00000357246 NM_001004343.2 81 Gcc/Acc 0 Missense_Mutation C 28 MAP1LC3C SNP 1 C T 240226291 240226291 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577146 7577147 + inframe_insertion In_Frame_Ins INS - - AGATTACCACTACTC novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000269305.4:c.783-6_791dup p.Ser260_Leu264dup p.S260_L264dup ENST00000269305 NM_001126112.2 264 cta/ctGAGTAGTGGTAATCTa 0 In_Frame_Ins - 57 TP53 INS 17 - AGATTACCACTACTC 7517872 7517871 WashU CPZ 8532 genome.wustl.edu GRCh37 4 8609121 8609123 + inframe_deletion In_Frame_Del DEL AGA AGA - novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 AGA AGA AGA - AGA AGA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360986.4:c.1199_1201del p.Lys400del p.K400del ENST00000360986 NM_001014447.2 399 gAGAag/gag 0 In_Frame_Del AGA 11 CPZ DEL 4 AGA - 8660023 8660021 WashU OR51I2 390064 genome.wustl.edu GRCh37 11 5475451 5475451 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341449.2:c.733A>G p.Ile245Val p.I245V ENST00000341449 NM_001004754.2 245 Atc/Gtc 0 Missense_Mutation A 16 OR51I2 SNP 11 A G 5432027 5432027 WashU RP11-754I20.1 genome.wustl.edu GRCh37 14 19118280 19118280 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000514609.2:n.678C>T *226* ENST00000514609 0 Missense_Mutation C 19 ENSG00000215398 SNP 14 C T 18188280 18188280 WashU SLC39A11 201266 genome.wustl.edu GRCh37 17 71084828 71084829 + missense_variant Missense_Mutation DNP CC CC AG novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000542342.2:c.75_76delinsCT p.Ala26Ser p.A26S ENST00000542342 NM_001159770.1 25 ggGGca/ggCTca 0 Missense CC 26 SLC39A11 DNP 17 CC AG 68596424 68596423 WashU C6 729 genome.wustl.edu GRCh37 5 41149516 41149516 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0765-01 TCGA-13-0765-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263413.3:c.2450A>G p.Lys817Arg p.K817R ENST00000263413 NM_001115131.2 817 aAg/aGg 0 Missense_Mutation T 56 C6 SNP 5 T C 41185273 41185273 WashU DOCK8 81704 genome.wustl.edu GRCh37 9 372251 372251 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000453981.1:c.2074A>T p.Lys692Ter p.K692* ENST00000453981 692 Aaa/Taa 0 Nonsense_Mutation A 1 DOCK8 SNP 9 A T 362251 362251 WashU ABCA3 21 genome.wustl.edu GRCh37 16 2329009 2329009 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000301732.5:c.4482C>T p.Cys1494= p.C1494= ENST00000301732 NM_001089.2 1494 tgC/tgT 0 Silent G 38 ABCA3 SNP 16 G A 2269010 2269010 WashU TGM6 343641 genome.wustl.edu GRCh37 20 2384442 2384442 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000202625.2:c.1309A>G p.Ile437Val p.I437V ENST00000202625 NM_198994.2 437 Atc/Gtc 0 Missense_Mutation A 8 TGM6 SNP 20 A G 2332442 2332442 WashU ZNF200 7752 genome.wustl.edu GRCh37 16 3274441 3274441 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000431561.3:c.639G>T p.Arg213Ser p.R213S ENST00000431561 NM_001145447.1 213 agG/agT 0 Missense_Mutation C 30 ZNF200 SNP 16 C A 3214442 3214442 WashU OTOP1 133060 genome.wustl.edu GRCh37 4 4199452 4199452 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296358.4:c.1109G>A p.Arg370Gln p.R370Q ENST00000296358 NM_177998.1 370 cGg/cAg 0 Missense_Mutation C 23 OTOP1 SNP 4 C T 4250353 4250353 WashU TP53 7157 genome.wustl.edu GRCh37 17 7579312 7579312 + splice_region_variant,synonymous_variant Splice_Region SNP C C A rs55863639 Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.375G>T p.Thr125= p.T125= ENST00000269305 NM_001126112.2 125 acG/acT 0 Silent C 23 TP53 SNP 17 C A 7520037 7520037 WashU TMEM186 25880 genome.wustl.edu GRCh37 16 8889849 8889849 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333050.6:c.602G>A p.Arg201His p.R201H ENST00000333050 NM_015421.3 201 cGt/cAt 0 Missense_Mutation C 19 TMEM186 SNP 16 C T 8797350 8797350 WashU MUC16 94025 genome.wustl.edu GRCh37 19 8993503 8993503 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397910.4:c.41586C>A p.Cys13862Ter p.C13862* ENST00000397910 NM_024690.2 13862 tgC/tgA 0 Nonsense_Mutation G 46 MUC16 SNP 19 G T 8854503 8854503 WashU GRIN2A 2903 genome.wustl.edu GRCh37 16 9934560 9934560 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330684.3:c.1595G>A p.Gly532Glu p.G532E ENST00000330684 NM_001134407.1 532 gGa/gAa 0 Missense_Mutation C 30 GRIN2A SNP 16 C T 9842061 9842061 WashU KRI1 65095 genome.wustl.edu GRCh37 19 10670330 10670330 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312962.6:c.1000A>G p.Arg334Gly p.R334G ENST00000312962 NM_023008.3 334 Aga/Gga 0 Missense_Mutation T 55 KRI1 SNP 19 T C 10531330 10531330 WashU SLC9B1P1 genome.wustl.edu GRCh37 Y 13500742 13500742 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000331172.6:c.580C>T p.Arg194Ter p.R194* ENST00000331172 194 Cga/Tga 0 Nonsense_Mutation G 37 ENSG00000183704 SNP 24 G A 11960742 11960742 WashU PROM1 8842 genome.wustl.edu GRCh37 4 16020132 16020132 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000510224.1:c.816C>A p.Asn272Lys p.N272K ENST00000510224 272 aaC/aaA 0 Missense_Mutation G 48 PROM1 SNP 4 G T 15629230 15629230 WashU USHBP1 83878 genome.wustl.edu GRCh37 19 17367458 17367458 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000252597.3:c.1292G>A p.Arg431His p.R431H ENST00000252597 NM_031941.3 431 cGt/cAt 0 Missense_Mutation C 19 USHBP1 SNP 19 C T 17228458 17228458 WashU ZNF70 7621 genome.wustl.edu GRCh37 22 24086469 24086469 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341976.3:c.859A>G p.Lys287Glu p.K287E ENST00000341976 NM_021916.2 287 Aaa/Gaa 0 Missense_Mutation T 62 ZNF70 SNP 22 T C 22416469 22416469 WashU STK31 56164 genome.wustl.edu GRCh37 7 23775221 23775221 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355870.3:c.548C>G p.Ser183Cys p.S183C ENST00000355870 NM_031414.4 183 tCt/tGt 0 Missense_Mutation C 32 STK31 SNP 7 C G 23741746 23741746 WashU HIST1H3A 8350 genome.wustl.edu GRCh37 6 26020777 26020777 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357647.3:c.60G>T p.Gln20His p.Q20H ENST00000357647 NM_003529.2 20 caG/caT 0 Missense_Mutation G 36 HIST1H3A SNP 6 G T 26128756 26128756 WashU SEC14L3 266629 genome.wustl.edu GRCh37 22 30857550 30857550 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000215812.4:c.903C>G p.Cys301Trp p.C301W ENST00000215812 NM_174975.4 301 tgC/tgG 0 Missense_Mutation G 38 SEC14L3 SNP 22 G C 29187550 29187550 WashU OR12D3 81797 genome.wustl.edu GRCh37 6 29342736 29342736 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396806.3:c.329C>T p.Ala110Val p.A110V ENST00000396806 NM_030959.2 110 gCc/gTc 0 Missense_Mutation G 42 OR12D3 SNP 6 G A 29450715 29450715 WashU SPOCD1 90853 genome.wustl.edu GRCh37 1 32263869 32263869 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360482.2:c.2084T>G p.Met695Arg p.M695R ENST00000360482 NM_144569.4 695 aTg/aGg 0 Missense_Mutation A 8 SPOCD1 SNP 1 A C 32036456 32036456 WashU TOPORS 10210 genome.wustl.edu GRCh37 9 32544141 32544141 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360538.2:c.382G>A p.Val128Ile p.V128I ENST00000360538 NM_005802.4 128 Gta/Ata 0 Missense_Mutation C 17 TOPORS SNP 9 C T 32534141 32534141 WashU GSS 2937 genome.wustl.edu GRCh37 20 33533841 33533841 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216951.2:c.190C>G p.Gln64Glu p.Q64E ENST00000216951 NM_000178.2 64 Caa/Gaa 0 Missense_Mutation G 46 GSS SNP 20 G C 32997502 32997502 WashU CACNB1 782 genome.wustl.edu GRCh37 17 37339981 37339981 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000394303.3:c.1035G>C p.Lys345Asn p.K345N ENST00000394303 NM_000723.4 345 aaG/aaC 0 Missense_Mutation C 32 CACNB1 SNP 17 G G 34593507 34593507 WashU CA9 768 genome.wustl.edu GRCh37 9 35674151 35674151 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378357.4:c.195G>A p.Leu65= p.L65= ENST00000378357 NM_001216.2 65 ctG/ctA 0 Silent G 46 CA9 SNP 9 G A 35664151 35664151 WashU MELK 9833 genome.wustl.edu GRCh37 9 36651858 36651858 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298048.2:c.1037C>T p.Pro346Leu p.P346L ENST00000298048 NM_014791.3 346 cCa/cTa 0 Missense_Mutation C 21 MELK SNP 9 C T 36641858 36641858 WashU HLCS 3141 genome.wustl.edu GRCh37 21 38309497 38309497 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399120.1:c.248G>A p.Ser83Asn p.S83N ENST00000399120 NM_001242784.1 83 aGt/aAt 0 Missense_Mutation C 20 HLCS SNP 21 C T 37231367 37231367 WashU C15orf57 90416 genome.wustl.edu GRCh37 15 40855010 40855010 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000558750.1:c.232G>C p.Ala78Pro p.A78P ENST00000558750 78 Gct/Cct 0 Missense_Mutation C 26 C15orf57 SNP 15 C G 38642302 38642302 WashU CHD6 84181 genome.wustl.edu GRCh37 20 40074317 40074317 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373233.3:c.3865G>A p.Val1289Met p.V1289M ENST00000373233 NM_032221.4 1289 Gtg/Atg 0 Missense_Mutation C 19 CHD6 SNP 20 C T 39507731 39507731 WashU LSR 51599 genome.wustl.edu GRCh37 19 35753487 35753487 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000361790.3:c.814C>G p.Leu272Val p.L272V ENST00000361790 NM_205834.3 272 Ctc/Gtc 0 Missense_Mutation C 24 LSR SNP 19 C G 40445327 40445327 WashU SPATA31A3 727830 genome.wustl.edu GRCh37 9 40704394 40704394 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000356699.5:c.2051G>A p.Arg684Lys p.R684K ENST00000356699 NM_001083124.1 684 aGg/aAg 0 Missense_Mutation G 35 FAM75A3 SNP 9 G A 40694394 40694394 WashU ZNF585A 199704 genome.wustl.edu GRCh37 19 37643247 37643247 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000292841.5:c.1389G>A p.Gly463= p.G463= ENST00000292841 NM_152655.2 463 ggG/ggA 0 Silent C 22 ZNF585A SNP 19 C T 42335087 42335087 WashU SLC20A2 6575 genome.wustl.edu GRCh37 8 42329816 42329816 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342228.3:c.93C>T p.Asn31= p.N31= ENST00000342228 NM_006749.4 31 aaC/aaT 0 Silent G 36 SLC20A2 SNP 8 G A 42448973 42448973 WashU FBLN1 2192 genome.wustl.edu GRCh37 22 45914631 45914631 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000327858.6:c.149G>A p.Cys50Tyr p.C50Y ENST00000327858 NM_006486.2 50 tGc/tAc 0 Missense_Mutation G 46 FBLN1 SNP 22 G A 44293295 44293295 WashU ARID2 196528 genome.wustl.edu GRCh37 12 46245402 46245402 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334344.6:c.3496G>C p.Gly1166Arg p.G1166R ENST00000334344 NM_152641.2 1166 Ggg/Cgg 0 Missense_Mutation G 35 ARID2 SNP 12 G C 44531669 44531669 WashU B4GALNT2 124872 genome.wustl.edu GRCh37 17 47246987 47246987 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300404.2:c.1598C>A p.Ala533Asp p.A533D ENST00000300404 NM_153446.2 533 gCc/gAc 0 Missense_Mutation C 26 B4GALNT2 SNP 17 A A 44601986 44601986 WashU TRMU 55687 genome.wustl.edu GRCh37 22 46742395 46742395 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000290846.4:c.432T>G p.Val144= p.V144= ENST00000290846 NM_018006.4 144 gtT/gtG 0 Silent T 61 TRMU SNP 22 T G 45121059 45121059 WashU ATP5S 27109 genome.wustl.edu GRCh37 14 50792435 50792435 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311459.7:c.642G>A p.Leu214= p.L214= ENST00000311459 NM_001003803.2 214 ttG/ttA 0 Silent G 45 ATP5S SNP 14 G A 49862185 49862185 WashU CDKL1 8814 genome.wustl.edu GRCh37 14 50798898 50798898 + intron_variant Intron SNP G G T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395834.1:c.969+82C>A *323* ENST00000395834 NM_004196.3 0 Silent G 45 ATP5S SNP 14 G T 49868648 49868648 WashU MYO5C 55930 genome.wustl.edu GRCh37 15 52571808 52571808 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261839.7:c.202G>A p.Gly68Ser p.G68S ENST00000261839 NM_018728.3 68 Ggc/Agc 0 Missense_Mutation C 22 MYO5C SNP 15 C T 50359100 50359100 WashU RAD54L2 23132 genome.wustl.edu GRCh37 3 51673615 51673615 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409535.2:c.2041A>C p.Ser681Arg p.S681R ENST00000409535 NM_015106.2 681 Agc/Cgc 0 Missense_Mutation A 15 RAD54L2 SNP 3 A C 51648655 51648655 WashU THSD1 55901 genome.wustl.edu GRCh37 13 52972015 52972015 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258613.4:c.373G>T p.Val125Leu p.V125L ENST00000258613 NM_018676.3 125 Gtg/Ttg 0 Missense_Mutation C 18 THSD1 SNP 13 C A 51870016 51870016 WashU RDH5 5959 genome.wustl.edu GRCh37 12 56117746 56117746 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257895.5:c.646G>A p.Glu216Lys p.E216K ENST00000257895 NM_001199771.1 216 Gag/Aag 0 Missense_Mutation G 41 RDH5 SNP 12 G A 54404013 54404013 WashU ATP5B 506 genome.wustl.edu GRCh37 12 57038968 57038968 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262030.3:c.297G>C p.Val99= p.V99= ENST00000262030 NM_001686.3 99 gtG/gtC 0 Silent C 21 ATP5B SNP 12 C G 55325235 55325235 WashU CCDC85A 114800 genome.wustl.edu GRCh37 2 56419726 56419726 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000407595.2:c.391C>T p.Arg131Cys p.R131C ENST00000407595 NM_001080433.1 131 Cgc/Tgc 0 Missense_Mutation C 31 CCDC85A SNP 2 C T 56273230 56273230 WashU ZNF614 80110 genome.wustl.edu GRCh37 19 52520367 52520367 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270649.6:c.484G>A p.Glu162Lys p.E162K ENST00000270649 NM_025040.3 162 Gag/Aag 0 Missense_Mutation C 29 ZNF614 SNP 19 C T 57212179 57212179 WashU ANXA2 302 genome.wustl.edu GRCh37 15 60649426 60649426 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332680.4:c.421A>C p.Thr141Pro p.T141P ENST00000332680 NM_001002858.2 141 Acc/Ccc 0 Missense_Mutation T 60 ANXA2 SNP 15 T G 58436718 58436718 WashU FEN1 2237 genome.wustl.edu GRCh37 11 61563786 61563786 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000305885.2:c.953A>T p.Glu318Val p.E318V ENST00000305885 NM_004111.5 318 gAg/gTg 0 Missense_Mutation A 11 FEN1 SNP 11 A T 61320362 61320362 WashU HERC1 8925 genome.wustl.edu GRCh37 15 63964733 63964733 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000443617.2:c.8007A>C p.Ala2669= p.A2669= ENST00000443617 NM_003922.3 2669 gcA/gcC 0 Silent T 51 HERC1 SNP 15 T G 61751786 61751786 WashU GANAB 23193 genome.wustl.edu GRCh37 11 62407101 62407101 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000346178.4:c.141C>T p.Cys47= p.C47= ENST00000346178 NM_198335.3 47 tgC/tgT 0 Silent G 46 GANAB SNP 11 G A 62163677 62163677 WashU SPTB 6710 genome.wustl.edu GRCh37 14 65239323 65239323 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389722.3:c.5528G>A p.Arg1843Gln p.R1843Q ENST00000389722 NM_001024858.2 1843 cGg/cAg 0 Missense_Mutation C 23 SPTB SNP 14 C T 64309076 64309076 WashU RP11-296I10.6 genome.wustl.edu GRCh37 16 70268080 70268080 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 T T T C T C Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000565246.1:n.655A>G *219* ENST00000565246 0 Missense_Mutation T 63 ENSG00000205152 SNP 16 T C 68825581 68825581 WashU WDR61 80349 genome.wustl.edu GRCh37 15 78581979 78581979 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000267973.2:c.544C>T p.Leu182Phe p.L182F ENST00000267973 182 Ctt/Ttt 0 Missense_Mutation G 36 WDR61 SNP 15 G A 76369034 76369034 WashU NT5E 4907 genome.wustl.edu GRCh37 6 86195099 86195099 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257770.3:c.898G>A p.Val300Ile p.V300I ENST00000257770 NM_002526.3 300 Gtc/Atc 0 Missense_Mutation G 40 NT5E SNP 6 G A 86251818 86251818 WashU GRM3 2913 genome.wustl.edu GRCh37 7 86468753 86468753 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361669.2:c.1923T>C p.Cys641= p.C641= ENST00000361669 NM_000840.2 641 tgT/tgC 0 Silent T 59 GRM3 SNP 7 T C 86306689 86306689 WashU BARHL2 343472 genome.wustl.edu GRCh37 1 91178121 91178121 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370445.4:c.912C>G p.Tyr304Ter p.Y304* ENST00000370445 NM_020063.1 304 taC/taG 0 Nonsense_Mutation G 36 BARHL2 SNP 1 G C 90950709 90950709 WashU VSIG1 340547 genome.wustl.edu GRCh37 X 107310217 107310217 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000415430.3:c.373C>G p.Arg125Gly p.R125G ENST00000415430 NM_001170553.1 125 Cga/Gga 0 Missense_Mutation C 31 VSIG1 SNP 23 C G 107196873 107196873 WashU ATP2A2 488 genome.wustl.edu GRCh37 12 110720597 110720597 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000539276.2:c.216T>C p.Ser72= p.S72= ENST00000539276 72 tcT/tcC 0 Silent T 56 ATP2A2 SNP 12 C C 109204980 109204980 WashU MYH15 22989 genome.wustl.edu GRCh37 3 108195349 108195349 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273353.3:c.1188T>A p.Ala396= p.A396= ENST00000273353 NM_014981.1 396 gcT/gcA 0 Silent A 7 MYH15 SNP 3 A T 109678039 109678039 WashU PIH1D2 120379 genome.wustl.edu GRCh37 11 111938623 111938623 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000280350.4:c.920C>T p.Thr307Met p.T307M ENST00000280350 NM_138789.3 307 aCg/aTg 0 Missense_Mutation G 40 PIH1D2 SNP 11 G A 111443833 111443833 WashU CTTNBP2 83992 genome.wustl.edu GRCh37 7 117424414 117424414 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000160373.3:c.2163A>C p.Gly721= p.G721= ENST00000160373 NM_033427.2 721 ggA/ggC 0 Silent T 62 CTTNBP2 SNP 7 T G 117211650 117211650 WashU GFRA1 2674 genome.wustl.edu GRCh37 10 117884825 117884825 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355422.6:c.677G>T p.Arg226Leu p.R226L ENST00000355422 NM_005264.4 226 cGa/cTa 0 Missense_Mutation C 31 GFRA1 SNP 10 C A 117874815 117874815 WashU KIAA1109 84162 genome.wustl.edu GRCh37 4 123161217 123161217 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264501.4:c.4380T>A p.Pro1460= p.P1460= ENST00000264501 1460 ccT/ccA 0 Silent T 56 KIAA1109 SNP 4 T A 123380667 123380667 WashU TACC2 10579 genome.wustl.edu GRCh37 10 123847278 123847278 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369005.1:c.5263G>T p.Ala1755Ser p.A1755S ENST00000369005 NM_206862.2 1755 Gct/Tct 0 Missense_Mutation G 42 TACC2 SNP 10 G T 123837268 123837268 WashU GRM8 2918 genome.wustl.edu GRCh37 7 126883067 126883067 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339582.2:c.192T>G p.Cys64Trp p.C64W ENST00000339582 64 tgT/tgG 0 Missense_Mutation A 6 GRM8 SNP 7 A C 126670303 126670303 WashU MEGF10 84466 genome.wustl.edu GRCh37 5 126758360 126758360 + splice_acceptor_variant Splice_Site SNP A A T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274473.6:c.1591-2A>T p.X531_splice ENST00000274473 NM_032446.2 0 Splice_Site_SNP A 7 MEGF10 SNP 5 A T 126786259 126786259 WashU ASAP1 50807 genome.wustl.edu GRCh37 8 131073023 131073023 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357668.1:c.2994G>C p.Leu998= p.L998= ENST00000357668 998 ctG/ctC 0 Silent C 25 ASAP1 SNP 8 C G 131142205 131142205 WashU FRG2B 441581 genome.wustl.edu GRCh37 10 135439015 135439015 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 T T T C T C Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000425520.1:c.425A>G p.Asp142Gly p.D142G ENST00000425520 NM_001080998.1 142 gAt/gGt 0 Missense_Mutation T 50 FRG2B SNP 10 T C 135289005 135289005 WashU NXPH2 11249 genome.wustl.edu GRCh37 2 139428965 139428965 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272641.3:c.322T>A p.Phe108Ile p.F108I ENST00000272641 NM_007226.2 108 Ttt/Att 0 Missense_Mutation A 4 NXPH2 SNP 2 A T 139145435 139145435 WashU NXPH2 11249 genome.wustl.edu GRCh37 2 139429227 139429227 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272641.3:c.60T>A p.Cys20Ter p.C20* ENST00000272641 NM_007226.2 20 tgT/tgA 0 Nonsense_Mutation A 6 NXPH2 SNP 2 A T 139145697 139145697 WashU EIF4EBP3 8637 genome.wustl.edu GRCh37 5 139928548 139928548 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310331.2:c.161C>T p.Ala54Val p.A54V ENST00000310331 NM_003732.2 54 gCc/gTc 0 Missense_Mutation C 26 ANKHD1-EIF4EBP3 SNP 5 C T 139908732 139908732 WashU TXNIP 10628 genome.wustl.edu GRCh37 1 145440063 145440063 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369317.4:c.497A>G p.Lys166Arg p.K166R ENST00000369317 NM_006472.4 166 aAg/aGg 0 Missense_Mutation A 3 TXNIP SNP 1 A G 144151420 144151420 WashU GRPEL2 134266 genome.wustl.edu GRCh37 5 148727896 148727896 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329271.3:c.139G>C p.Glu47Gln p.E47Q ENST00000329271 NM_152407.3 47 Gag/Cag 0 Missense_Mutation G 45 GRPEL2 SNP 5 G C 148708089 148708089 WashU FLG 2312 genome.wustl.edu GRCh37 1 152276913 152276913 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368799.1:c.10449A>C p.Arg3483Ser p.R3483S ENST00000368799 NM_002016.1 3483 agA/agC 0 Missense_Mutation T 62 FLG SNP 1 T G 150543537 150543537 WashU KMT2C 58508 genome.wustl.edu GRCh37 7 151962210 151962210 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262189.6:c.1097A>C p.Tyr366Ser p.Y366S ENST00000262189 NM_170606.2 366 tAt/tCt 0 Missense_Mutation T 49 MLL3 SNP 7 T G 151593143 151593143 WashU DUSP9 1852 genome.wustl.edu GRCh37 X 152915581 152915581 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342782.3:c.976A>T p.Asn326Tyr p.N326Y ENST00000342782 326 Aac/Tac 0 Missense_Mutation A 13 DUSP9 SNP 23 A T 152568775 152568775 WashU MBNL1 4154 genome.wustl.edu GRCh37 3 152018065 152018065 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C G G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282486.6:c.83C>G p.Ser28Ter p.S28* ENST00000282486 28 tCa/tGa 0 Nonsense_Mutation C 29 MBNL1 SNP 3 G G 153500755 153500755 WashU MPP1 4354 genome.wustl.edu GRCh37 X 154020120 154020120 + splice_region_variant,synonymous_variant Splice_Region SNP T T A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369534.3:c.249A>T p.Gly83= p.G83= ENST00000369534 NM_001166461.1 83 ggA/ggT 0 Silent T 62 MPP1 SNP 23 T A 153673314 153673314 WashU YY1AP1 55249 genome.wustl.edu GRCh37 1 155638494 155638494 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368339.5:c.1217C>G p.Thr406Ser p.T406S ENST00000368339 NM_001198903.1 406 aCc/aGc 0 Missense_Mutation G 44 YY1AP1 SNP 1 G C 153905118 153905118 WashU KIF4B 285643 genome.wustl.edu GRCh37 5 154394266 154394266 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000435029.4:c.847G>T p.Gly283Cys p.G283C ENST00000435029 NM_001099293.1 283 Ggt/Tgt 0 Missense_Mutation G 43 KIF4B SNP 5 G T 154374459 154374459 WashU FCRL5 83416 genome.wustl.edu GRCh37 1 157512668 157512668 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361835.3:c.1104T>G p.Ala368= p.A368= ENST00000361835 NM_001195388.1 368 gcT/gcG 0 Silent A 7 FCRL5 SNP 1 A C 155779292 155779292 WashU PKP4 8502 genome.wustl.edu GRCh37 2 159519424 159519424 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389759.3:c.2227G>A p.Val743Met p.V743M ENST00000389759 NM_003628.3 743 Gtg/Atg 0 Missense_Mutation G 40 PKP4 SNP 2 G A 159227670 159227670 WashU USP21 27005 genome.wustl.edu GRCh37 1 161132065 161132065 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368002.3:c.666C>T p.Phe222= p.F222= ENST00000368002 NM_001014443.2 222 ttC/ttT 0 Missense_Mutation C 30 USP21 SNP 1 C T 159398689 159398689 WashU BAZ2B 29994 genome.wustl.edu GRCh37 2 160240191 160240191 + missense_variant,splice_region_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392783.2:c.3687T>A p.Ser1229Arg p.S1229R ENST00000392783 NM_013450.2 1229 agT/agA 0 Missense_Mutation A 6 BAZ2B SNP 2 A T 159948437 159948437 WashU LPA 4018 genome.wustl.edu GRCh37 6 161056238 161056238 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000447678.1:c.992C>T p.Thr331Met p.T331M ENST00000447678 NM_005577.2 331 aCg/aTg 0 Missense_Mutation G 40 LPA SNP 6 G A 160976228 160976228 WashU DDX60L 91351 genome.wustl.edu GRCh37 4 169315648 169315648 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260184.7:c.3778G>C p.Val1260Leu p.V1260L ENST00000260184 NM_001012967.1 1260 Gtt/Ctt 0 Missense_Mutation C 17 DDX60L SNP 4 C G 169552223 169552223 WashU TTN 7273 genome.wustl.edu GRCh37 2 179458169 179458169 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.58766C>G p.Thr19589Arg p.T19589R ENST00000589042 NM_001267550.1 19589 aCa/aGa 0 Missense_Mutation G 48 TTN SNP 2 G C 179166415 179166415 WashU TTN 7273 genome.wustl.edu GRCh37 2 179605096 179605096 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.12864G>T p.Glu4288Asp p.E4288D ENST00000589042 NM_001267550.1 4288 gaG/gaT 0 Missense_Mutation C 28 TTN SNP 2 C A 179313341 179313341 WashU ATP13A3 79572 genome.wustl.edu GRCh37 3 194152547 194152547 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000439040.1:c.2320G>T p.Ala774Ser p.A774S ENST00000439040 774 Gct/Tct 0 Missense_Mutation C 25 ATP13A3 SNP 3 C A 195633836 195633836 WashU ALS2CR11 151254 genome.wustl.edu GRCh37 2 202430564 202430564 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000439140.1:c.865C>A p.Pro289Thr p.P289T ENST00000439140 NM_001168221.1 289 Cca/Aca 0 Missense_Mutation G 41 ALS2CR11 SNP 2 G T 202138809 202138809 WashU CD34 947 genome.wustl.edu GRCh37 1 208062048 208062048 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310833.7:c.951G>C p.Trp317Cys p.W317C ENST00000310833 NM_001025109.1 317 tgG/tgC 0 Missense_Mutation C 30 CD34 SNP 1 C G 206128671 206128671 WashU RBM34 23029 genome.wustl.edu GRCh37 1 235324283 235324283 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000408888.3:c.153T>C p.Gly51= p.G51= ENST00000408888 51 ggT/ggC 0 Silent A 6 RBM34 SNP 1 A G 233390906 233390906 WashU CEP170 9859 genome.wustl.edu GRCh37 1 243336021 243336021 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366542.1:c.1694C>T p.Thr565Ile p.T565I ENST00000366542 NM_014812.2 565 aCa/aTa 0 Missense_Mutation G 48 CEP170 SNP 1 G A 241402644 241402644 WashU KDM5B 10765 genome.wustl.edu GRCh37 1 202711576 202711577 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 - C C C - - Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000367265.3:c.2532dup p.Phe845ValfsTer32 p.F845Vfs*32 ENST00000367265 NM_006618.3 844 cag/caGg 0 Frame_Shift_Ins - 20 KDM5B INS 1 C C 200978199 200978199 WashU TRIM46 80128 genome.wustl.edu GRCh37 1 155154504 155154504 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334634.4:c.1765C>G p.Gln589Glu p.Q589E ENST00000334634 NM_001282378.1 589 Cag/Gag 0 Missense_Mutation C 21 TRIM46 SNP 1 C G 153421128 153421128 WashU ROBO4 54538 genome.wustl.edu GRCh37 11 124763776 124763776 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306534.3:c.1484C>A p.Ala495Asp p.A495D ENST00000306534 NM_019055.5 495 gCt/gAt 0 Missense_Mutation G 34 ROBO4 SNP 11 G T 124268986 124268986 WashU SFSWAP 6433 genome.wustl.edu GRCh37 12 132283985 132283985 + synonymous_variant Silent SNP C C T Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000541286.1:c.2964C>T p.Val988= p.V988= ENST00000541286 NM_001261411.1 988 gtC/gtT 0 Silent C 29 SFRS8 SNP 12 C T 130849938 130849938 WashU FBXL14 144699 genome.wustl.edu GRCh37 12 1702231 1702231 + synonymous_variant Silent SNP C C T Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000339235.3:c.1002G>A p.Thr334= p.T334= ENST00000339235 NM_152441.2 334 acG/acA 0 Silent C 27 FBXL14 SNP 12 C T 1572492 1572492 WashU AVPR1B 553 genome.wustl.edu GRCh37 1 206225335 206225335 + frameshift_variant Frame_Shift_Del DEL A A - Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A A - A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000367126.4:c.895del p.Ser299ValfsTer82 p.S299Vfs*82 ENST00000367126 NM_000707.3 299 Agt/gt 0 Frame_Shift_Del A 7 AVPR1B DEL 1 A - 204391958 204391958 WashU U2SURP 23350 genome.wustl.edu GRCh37 3 142757043 142757054 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL AGGGTGAGTAAA AGGGTGAGTAAA - Unknown TCGA-13-0755-01 TCGA-13-0755-10 GGGTGAGTAAAAG GGGTGAGTAAAAG GGGTGAGTAAAAG - GGGTGAGTAAAAG GGGTGAGTAAAAG Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000473835.2:c.2317_2317+11del p.X773_splice ENST00000473835 NM_001080415.1 772 0 Frame_Shift_Del GGGTGAGTAAAAG 7 SR140 DEL 3 GGGTGAGTAAAAG - 144239744 144239733 WashU YIPF5 81555 genome.wustl.edu GRCh37 5 143540024 143540032 + inframe_deletion In_Frame_Del DEL TTGCTGTCC TTGCTGTCC - Unknown TCGA-13-0755-01 TCGA-13-0755-10 TTGCTGTCC TTGCTGTCC TTGCTGTCC - TTGCTGTCC TTGCTGTCC Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000274496.5:c.703_711del p.Gly235_Gln237del p.G235_Q237del ENST00000274496 NM_030799.8 235 GGACAGCAA/- 0 In_Frame_Del TTGCTGTCC 60 YIPF5 DEL 5 TTGCTGTCC - 143520225 143520217 WashU CERS4 79603 genome.wustl.edu GRCh37 19 8322867 8322867 + splice_region_variant,synonymous_variant Splice_Region SNP C C A Unknown TCGA-13-0755-01 TCGA-13-0755-10 C C C A C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000251363.5:c.846C>A p.Thr282= p.T282= ENST00000251363 NM_024552.2 282 acC/acA 0 Silent C 22 LASS4 SNP 19 C A 8228867 8228867 WashU ASPRV1 151516 genome.wustl.edu GRCh37 2 70188686 70188686 + frameshift_variant Frame_Shift_Del DEL T T - Unknown TCGA-13-0755-01 TCGA-13-0755-10 T T T - T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000320256.4:c.135del p.Val46SerfsTer14 p.V46Sfs*14 ENST00000320256 NM_152792.2 45 caA/ca 0 Frame_Shift_Del T 56 ASPRV1 DEL 2 T - 70042190 70042190 WashU HSPG2 3339 broad.mit.edu GRCh37 1 22222770 22222770 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000374695.3:c.97T>C p.Ser33Pro p.S33P ENST00000374695 NM_005529.5 33 Tct/Cct 0 Missense_Mutation A 10 HSPG2 SNP 1 A G 22095357 22095357 Broad USP21 27005 broad.mit.edu GRCh37 1 161130818 161130818 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000368002.3:c.388C>T p.Arg130Cys p.R130C ENST00000368002 NM_001014443.2 130 Cgt/Tgt 0 Missense_Mutation C 23 USP21 SNP 1 C T 159397442 159397442 Broad RERG 85004 broad.mit.edu GRCh37 12 15262110 15262110 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000256953.2:c.534G>A p.Arg178= p.R178= ENST00000256953 NM_032918.2 178 agG/agA 0 Silent C 26 RERG SNP 12 C T 15153377 15153377 Broad ZNF140 7699 broad.mit.edu GRCh37 12 133659687 133659687 + splice_acceptor_variant Splice_Site SNP A A C novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000355557.2:c.10-2A>C p.X4_splice ENST00000355557 NM_003440.2 0 Splice_Site_SNP A 7 ZNF140 SNP 12 A C 132169760 132169760 Broad GPR132 29933 broad.mit.edu GRCh37 14 105518022 105518022 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000329797.3:c.452G>A p.Arg151Gln p.R151Q ENST00000329797 NM_013345.3 151 cGg/cAg 0 Missense_Mutation C 23 GPR132 SNP 14 C T 104589067 104589067 Broad MYH1 4619 broad.mit.edu GRCh37 17 10398315 10398315 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000226207.5:c.5399G>A p.Arg1800His p.R1800H ENST00000226207 NM_005963.3 1800 cGt/cAt 0 Missense_Mutation C 19 MYH1 SNP 17 C T 10339040 10339040 Broad SUPT6H 6830 broad.mit.edu GRCh37 17 27005898 27005898 + synonymous_variant Silent SNP T T G novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000314616.6:c.1266T>G p.Ala422= p.A422= ENST00000314616 NM_003170.3 422 gcT/gcG 0 Silent T 56 SUPT6H SNP 17 T G 24030025 24030025 Broad ANKRD13B 124930 broad.mit.edu GRCh37 17 27937716 27937716 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000394859.3:c.836C>G p.Ser279Cys p.S279C ENST00000394859 NM_152345.4 279 tCt/tGt 0 Missense_Mutation C 32 ANKRD13B SNP 17 C G 24961842 24961842 Broad FARSA 2193 broad.mit.edu GRCh37 19 13039613 13039613 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000314606.4:c.552C>A p.Ser184Arg p.S184R ENST00000314606 NM_004461.2 184 agC/agA 0 Missense_Mutation G 46 FARSA SNP 19 G T 12900613 12900613 Broad LRP1B 53353 broad.mit.edu GRCh37 2 141202204 141202204 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000389484.3:c.10102C>T p.Leu3368Phe p.L3368F ENST00000389484 NM_018557.2 3368 Ctc/Ttc 0 Missense_Mutation G 36 LRP1B SNP 2 G A 140918674 140918674 Broad RTP3 83597 broad.mit.edu GRCh37 3 46542042 46542042 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000296142.3:c.352C>T p.Leu118= p.L118= ENST00000296142 NM_031440.1 118 Ctg/Ttg 0 Silent C 24 RTP3 SNP 3 C T 46517046 46517046 Broad MED12L 116931 broad.mit.edu GRCh37 3 151105912 151105912 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000474524.1:c.5298G>T p.Lys1766Asn p.K1766N ENST00000474524 NM_053002.4 1766 aaG/aaT 0 Missense_Mutation G 33 MED12L SNP 3 G T 152588602 152588602 Broad TRMT44 152992 broad.mit.edu GRCh37 4 8477664 8477664 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000389737.4:c.2210C>T p.Pro737Leu p.P737L ENST00000389737 NM_152544.2 737 cCg/cTg 0 Missense_Mutation C 23 C4orf23 SNP 4 C T 8528564 8528564 Broad MAP3K1 4214 broad.mit.edu GRCh37 5 56181765 56181765 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000399503.3:c.3989C>T p.Ser1330Leu p.S1330L ENST00000399503 NM_005921.1 1330 tCg/tTg 0 Missense_Mutation C 31 MAP3K1 SNP 5 C T 56217522 56217522 Broad COL11A2 1302 broad.mit.edu GRCh37 6 33141811 33141811 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000374708.4:c.2248C>T p.Pro750Ser p.P750S ENST00000374708 NM_080681.2 750 Cct/Tct 0 Missense_Mutation G 42 COL11A2 SNP 6 G A 33249789 33249789 Broad WNT2 7472 broad.mit.edu GRCh37 7 116955206 116955206 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000265441.3:c.507C>T p.Arg169= p.R169= ENST00000265441 NM_003391.2 169 cgC/cgT 0 Silent G 38 WNT2 SNP 7 G A 116742442 116742442 Broad PIGA 5277 broad.mit.edu GRCh37 X 15349505 15349505 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown x x x ENST00000333590.4:c.548G>A p.Cys183Tyr p.C183Y ENST00000333590 NM_002641.3 183 tGt/tAt 0 Missense_Mutation C 17 PIGA SNP 23 C T 15259426 15259426 Broad TP53 7157 broad.mit.edu GRCh37 17 7577563 7577571 + inframe_deletion In_Frame_Del DEL TGTTACACA TGTTACACA - novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.710_718del p.Met237_Asn239del p.M237_N239del ENST00000269305 NM_001126112.2 237 aTGTGTAACAgt/agt 0 In_Frame_Del TGTTACACA 55 TP53 DEL 17 TGTTACACA - 7518296 7518288 Broad ZNF717 100131827 broad.mit.edu GRCh37 3 75786818 75786826 + inframe_deletion In_Frame_Del DEL ACATTCATT ACATTCATT - novel Unknown TCGA-61-2088-01 TCGA-61-2088-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000422325.1:c.1948_1956del p.Asn650_Cys652del p.N650_C652del ENST00000422325 NM_001128223.1 650 AATGAATGT/- 0 In_Frame_Del ACATTCATT 6 ZNF717 DEL 3 - ACATTCATT 75869516 75869508 Broad ESPN 83715 broad.mit.edu GRCh37 1 6500439 6500439 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000377828.1:c.614A>G p.Asp205Gly p.D205G ENST00000377828 NM_031475.2 205 gAc/gGc 0 Missense_Mutation A 10 ESPN SNP 1 A G 6423026 6423026 Broad SMPDL3B 27293 broad.mit.edu GRCh37 1 28280902 28280902 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000373894.3:c.555G>T p.Gly185= p.G185= ENST00000373894 NM_014474.2 185 ggG/ggT 0 Silent G 43 SMPDL3B SNP 1 G T 28153489 28153489 Broad GNL2 29889 broad.mit.edu GRCh37 1 38040287 38040287 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000373062.3:c.1281C>T p.Phe427= p.F427= ENST00000373062 NM_013285.2 427 ttC/ttT 0 Silent G 41 GNL2 SNP 1 G A 37812874 37812874 Broad CDC7 8317 broad.mit.edu GRCh37 1 91989864 91989864 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000428239.1:c.1597G>C p.Glu533Gln p.E533Q ENST00000428239 NM_001134420.1 533 Gaa/Caa 0 Missense_Mutation G 33 CDC7 SNP 1 G C 91762452 91762452 Broad ITGA10 8515 broad.mit.edu GRCh37 1 145533916 145533916 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369304.3:c.1562G>A p.Arg521His p.R521H ENST00000369304 NM_003637.3 521 cGt/cAt 0 Missense_Mutation G 40 ITGA10 SNP 1 G A 144245273 144245273 Broad FAM63A 55793 broad.mit.edu GRCh37 1 150970610 150970610 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000361738.6:c.1265C>T p.Pro422Leu p.P422L ENST00000361738 NM_001163258.1 422 cCt/cTt 0 Missense_Mutation G 35 FAM63A SNP 1 G A 149237234 149237234 Broad APCS 325 broad.mit.edu GRCh37 1 159558225 159558225 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000255040.2:c.399G>A p.Leu133= p.L133= ENST00000255040 NM_001639.3 133 ttG/ttA 0 Silent G 47 APCS SNP 1 G A 157824849 157824849 Broad ARHGAP21 57584 broad.mit.edu GRCh37 10 24884683 24884683 + synonymous_variant Silent SNP G G C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000396432.2:c.3675C>G p.Ser1225= p.S1225= ENST00000396432 NM_020824.3 1225 tcC/tcG 0 Silent G 35 ARHGAP21 SNP 10 G C 24924689 24924689 Broad CCDC6 8030 broad.mit.edu GRCh37 10 61574446 61574446 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 A G A A Unknown Valid Somatic x x 454_PCR_WGA x ENST00000263102.6:c.650T>C p.Leu217Pro p.L217P ENST00000263102 NM_005436.4 217 cTc/cCc 0 Missense_Mutation A 11 CCDC6 SNP 10 A G 61244452 61244452 Broad CDK1 983 broad.mit.edu GRCh37 10 62545444 62545444 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 G C G G Unknown Valid Somatic x x 454_PCR_WGA x ENST00000395284.3:c.217G>C p.Asp73His p.D73H ENST00000395284 NM_001786.4 73 Gat/Cat 0 Missense_Mutation G 41 CDK1 SNP 10 G C 62215450 62215450 Broad SUPV3L1 6832 broad.mit.edu GRCh37 10 70951411 70951411 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000359655.4:c.742G>T p.Gly248Cys p.G248C ENST00000359655 NM_003171.3 248 Ggt/Tgt 0 Missense_Mutation G 43 SUPV3L1 SNP 10 G T 70621417 70621417 Broad PRF1 5551 broad.mit.edu GRCh37 10 72357809 72357809 + stop_lost Nonstop_Mutation SNP T T A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000441259.1:c.1668A>T p.Ter556CysextTer3 p.*556Cext*3 ENST00000441259 NM_005041.4 556 tgA/tgT 0 Nonstop_Mutation T 54 PRF1 SNP 10 T A 72027815 72027815 Broad SYNPO2L 79933 broad.mit.edu GRCh37 10 75407108 75407108 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000394810.2:c.2302C>G p.Arg768Gly p.R768G ENST00000394810 NM_001114133.1 768 Cgt/Ggt 0 Missense_Mutation G 39 SYNPO2L SNP 10 G C 75077114 75077114 Broad ZNF503 84858 broad.mit.edu GRCh37 10 77158576 77158576 + synonymous_variant Silent SNP T T G novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000372524.4:c.1872A>C p.Gly624= p.G624= ENST00000372524 NM_032772.4 624 ggA/ggC 0 Silent T 58 ZNF503 SNP 10 T G 76828582 76828582 Broad COX15 1355 broad.mit.edu GRCh37 10 101487250 101487250 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000016171.5:c.343G>A p.Glu115Lys p.E115K ENST00000016171 115 Gag/Aag 0 Missense_Mutation C 32 COX15 SNP 10 C T 101477240 101477240 Broad INSC 387755 broad.mit.edu GRCh37 11 15134029 15134029 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000379554.3:c.14C>T p.Pro5Leu p.P5L ENST00000379554 NM_001031853.4 5 cCt/cTt 0 Missense_Mutation C 24 INSC SNP 11 C T 15090605 15090605 Broad SDHAF2 54949 broad.mit.edu GRCh37 11 61205108 61205108 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000301761.2:c.48G>T p.Leu16= p.L16= ENST00000301761 NM_017841.2 16 ctG/ctT 0 Silent G 48 SDHAF2 SNP 11 G T 60961684 60961684 Broad LRP5 4041 broad.mit.edu GRCh37 11 68154140 68154140 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000294304.7:c.1372C>G p.Leu458Val p.L458V ENST00000294304 NM_002335.2 458 Ctg/Gtg 0 Missense_Mutation C 24 LRP5 SNP 11 C G 67910716 67910716 Broad KIRREL3 84623 broad.mit.edu GRCh37 11 126316769 126316769 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000525144.2:c.1010T>A p.Met337Lys p.M337K ENST00000525144 NM_032531.3 337 aTg/aAg 0 Missense_Mutation A 8 KIRREL3 SNP 11 A T 125821979 125821979 Broad TAS2R50 259296 broad.mit.edu GRCh37 12 11139426 11139426 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000506868.1:c.34C>G p.Leu12Val p.L12V ENST00000506868 NM_176890.2 12 Cta/Gta 0 Missense_Mutation G 33 TAS2R50 SNP 12 G C 11030693 11030693 Broad EEA1 8411 broad.mit.edu GRCh37 12 93192686 93192686 + synonymous_variant Silent SNP T T C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000322349.8:c.2949A>G p.Lys983= p.K983= ENST00000322349 NM_003566.3 983 aaA/aaG 0 Silent T 64 EEA1 SNP 12 T C 91716817 91716817 Broad CUX2 23316 broad.mit.edu GRCh37 12 111776155 111776155 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000261726.6:c.3262C>T p.Arg1088Trp p.R1088W ENST00000261726 NM_015267.3 1088 Cgg/Tgg 0 Missense_Mutation C 23 CUX2 SNP 12 C T 110260538 110260538 Broad KNTC1 9735 broad.mit.edu GRCh37 12 123057757 123057757 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000333479.7:c.2208C>A p.Ile736= p.I736= ENST00000333479 NM_014708.4 736 atC/atA 0 Silent C 32 KNTC1 SNP 12 C A 121623710 121623710 Broad AMER2 219287 broad.mit.edu GRCh37 13 25745687 25745687 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000515384.1:c.71G>T p.Gly24Val p.G24V ENST00000515384 24 gGg/gTg 0 Missense_Mutation C 22 FAM123A SNP 13 C A 24643687 24643687 Broad ATP11A 23250 broad.mit.edu GRCh37 13 113473658 113473658 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000487903.1:c.611A>G p.Glu204Gly p.E204G ENST00000487903 204 gAg/gGg 0 Missense_Mutation A 11 ATP11A SNP 13 A G 112521659 112521659 Broad HECTD1 25831 broad.mit.edu GRCh37 14 31583260 31583260 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000399332.1:c.5679C>G p.Cys1893Trp p.C1893W ENST00000399332 NM_015382.2 1893 tgC/tgG 0 Missense_Mutation G 34 HECTD1 SNP 14 G C 30653011 30653011 Broad EIF2S1 1965 broad.mit.edu GRCh37 14 67831487 67831487 + start_lost Translation_Start_Site SNP G G T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000256383.4:c.3G>T p.Met1? p.M1? ENST00000256383 NM_004094.4 1 atG/atT 0 Missense_Mutation G 46 EIF2S1 SNP 14 G T 66901240 66901240 Broad CCDC88C 440193 broad.mit.edu GRCh37 14 91755617 91755617 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000389857.6:c.4273C>T p.Arg1425Cys p.R1425C ENST00000389857 NM_001080414.3 1425 Cgc/Tgc 0 Missense_Mutation G 40 CCDC88C SNP 14 G A 90825370 90825370 Broad DISP2 85455 broad.mit.edu GRCh37 15 40661535 40661535 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000267889.3:c.3222C>A p.Gly1074= p.G1074= ENST00000267889 NM_033510.1 1074 ggC/ggA 0 Silent C 27 DISP2 SNP 15 C A 38448827 38448827 Broad VPS39 23339 broad.mit.edu GRCh37 15 42480024 42480024 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000318006.5:c.373A>G p.Met125Val p.M125V ENST00000318006 NM_015289.2 125 Atg/Gtg 0 Missense_Mutation T 50 VPS39 SNP 15 T C 40267316 40267316 Broad DUOX1 53905 broad.mit.edu GRCh37 15 45444641 45444641 + synonymous_variant Silent SNP C C G novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000321429.4:c.3351C>G p.Leu1117= p.L1117= ENST00000321429 NM_017434.3 1117 ctC/ctG 0 Silent C 29 DUOX1 SNP 15 C G 43231933 43231933 Broad DNAJA4 55466 broad.mit.edu GRCh37 15 78557132 78557132 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000394855.3:c.114C>A p.Asp38Glu p.D38E ENST00000394855 NM_018602.3 38 gaC/gaA 0 Missense_Mutation C 17 DNAJA4 SNP 15 C A 76344187 76344187 Broad NR2F2 7026 broad.mit.edu GRCh37 15 96875659 96875659 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000394166.3:c.325A>T p.Arg109Trp p.R109W ENST00000394166 NM_021005.3 109 Agg/Tgg 0 Missense_Mutation A 11 NR2F2 SNP 15 A T 94676663 94676663 Broad MSLNL 401827 broad.mit.edu GRCh37 16 830433 830433 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000293892.3:c.568C>A p.Arg190Ser p.R190S ENST00000293892 190 Cgt/Agt 0 Missense_Mutation G 39 MSLNL SNP 16 G T 770434 770434 Broad PRSS21 10942 broad.mit.edu GRCh37 16 2871383 2871383 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000005995.3:c.722C>G p.Pro241Arg p.P241R ENST00000005995 241 cCc/cGc 0 Missense_Mutation C 22 PRSS21 SNP 16 C G 2811384 2811384 Broad DNAH3 55567 broad.mit.edu GRCh37 16 20999161 20999161 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000261383.3:c.6736A>G p.Met2246Val p.M2246V ENST00000261383 NM_017539.1 2246 Atg/Gtg 0 Missense_Mutation T 50 DNAH3 SNP 16 T C 20906662 20906662 Broad SLC5A11 115584 broad.mit.edu GRCh37 16 24902190 24902190 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000347898.3:c.665G>T p.Ser222Ile p.S222I ENST00000347898 NM_052944.3 222 aGt/aTt 0 Missense_Mutation G 44 SLC5A11 SNP 16 G T 24809691 24809691 Broad CES3 23491 broad.mit.edu GRCh37 16 67000683 67000683 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000303334.4:c.977A>G p.Lys326Arg p.K326R ENST00000303334 NM_024922.5 326 aAg/aGg 0 Missense_Mutation A 3 CES3 SNP 16 A G 65558184 65558184 Broad TXNL4B 54957 broad.mit.edu GRCh37 16 72120641 72120641 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000268483.3:c.345G>T p.Leu115Phe p.L115F ENST00000268483 NM_017853.2 115 ttG/ttT 0 Missense_Mutation C 29 TXNL4B SNP 16 C A 70678142 70678142 Broad ANKRD11 29123 broad.mit.edu GRCh37 16 89348397 89348397 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000301030.4:c.4553C>G p.Ser1518Cys p.S1518C ENST00000301030 NM_001256183.1 1518 tCc/tGc 0 Missense_Mutation G 41 ANKRD11 SNP 16 G C 87875898 87875898 Broad CHMP1A 5119 broad.mit.edu GRCh37 16 89712366 89712366 + 3_prime_UTR_variant 3'UTR SNP C C G novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000397901.3:c.*108G>C *36* ENST00000397901 NM_002768.4 0 Missense_Mutation C 26 CHMP1A SNP 16 C G 88239867 88239867 Broad TP53 7157 broad.mit.edu GRCh37 17 7577559 7577559 + missense_variant Missense_Mutation SNP G G A rs28934573 Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.722C>T p.Ser241Phe p.S241F ENST00000269305 NM_001126112.2 241 tCc/tTc 0 Missense_Mutation G 41 TP53 SNP 17 G A 7518284 7518284 Broad NF1 4763 broad.mit.edu GRCh37 17 29490249 29490249 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000358273.4:c.334C>T p.Gln112Ter p.Q112* ENST00000358273 NM_001042492.2 112 Cag/Tag 0 Nonsense_Mutation C 17 NF1 SNP 17 C T 26514375 26514375 Broad CIC 23152 broad.mit.edu GRCh37 19 42790965 42790965 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000575354.2:c.110G>C p.Trp37Ser p.W37S ENST00000575354 NM_015125.3 37 tGg/tCg 0 Missense_Mutation G 47 CIC SNP 19 G C 47482805 47482805 Broad SIGLEC11 114132 broad.mit.edu GRCh37 19 50464030 50464030 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000447370.2:c.239C>G p.Pro80Arg p.P80R ENST00000447370 NM_052884.2 80 cCa/cGa 0 Missense_Mutation G 47 SIGLEC11 SNP 19 G C 55155842 55155842 Broad ZIM2 23619 broad.mit.edu GRCh37 19 57333111 57333111 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000326441.9:c.577C>T p.Arg193Trp p.R193W ENST00000326441 NM_006210.2 193 Cgg/Tgg 0 Missense_Mutation G 38 PEG3 SNP 19 G A 62024923 62024923 Broad NPHP1 4867 broad.mit.edu GRCh37 2 110922218 110922218 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000316534.4:c.818T>G p.Ile273Arg p.I273R ENST00000316534 273 aTa/aGa 0 Missense_Mutation A 16 NPHP1 SNP 2 A C 110279507 110279507 Broad CYTIP 9595 broad.mit.edu GRCh37 2 158272527 158272527 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000264192.3:c.742A>T p.Ser248Cys p.S248C ENST00000264192 NM_004288.4 248 Agc/Tgc 0 Missense_Mutation T 54 CYTIP SNP 2 T A 157980773 157980773 Broad TANC1 85461 broad.mit.edu GRCh37 2 160035144 160035144 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000263635.6:c.1980G>A p.Leu660= p.L660= ENST00000263635 NM_033394.2 660 ctG/ctA 0 Silent G 46 TANC1 SNP 2 G A 159743390 159743390 Broad FASTKD1 79675 broad.mit.edu GRCh37 2 170393765 170393765 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000453153.2:c.2160G>A p.Ser720= p.S720= ENST00000453153 NM_024622.4 720 tcG/tcA 0 Silent C 23 FASTKD1 SNP 2 C T 170102011 170102011 Broad HOXD10 3236 broad.mit.edu GRCh37 2 176982198 176982198 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000249501.4:c.637G>A p.Val213Ile p.V213I ENST00000249501 NM_002148.3 213 Gtc/Atc 0 Missense_Mutation G 36 HOXD10 SNP 2 G A 176690444 176690444 Broad IRS1 3667 broad.mit.edu GRCh37 2 227659994 227659994 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000305123.5:c.3461G>T p.Gly1154Val p.G1154V ENST00000305123 NM_005544.2 1154 gGg/gTg 0 Missense_Mutation C 22 IRS1 SNP 2 C A 227368238 227368238 Broad COL6A3 1293 broad.mit.edu GRCh37 2 238287412 238287412 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000295550.4:c.2364G>T p.Gln788His p.Q788H ENST00000295550 NM_004369.3 788 caG/caT 0 Missense_Mutation C 32 COL6A3 SNP 2 C A 237952151 237952151 Broad CLIC6 54102 broad.mit.edu GRCh37 21 36080253 36080253 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000349499.2:c.1496A>T p.Asp499Val p.D499V ENST00000349499 NM_053277.1 499 gAc/gTc 0 Missense_Mutation A 10 CLIC6 SNP 21 A T 35002123 35002123 Broad DSCAM 1826 broad.mit.edu GRCh37 21 41457667 41457667 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000400454.1:c.3994A>T p.Ile1332Phe p.I1332F ENST00000400454 NM_001271534.1 1332 Att/Ttt 0 Missense_Mutation T 50 DSCAM SNP 21 T A 40379537 40379537 Broad ITGB2 3689 broad.mit.edu GRCh37 21 46319077 46319077 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000397850.2:c.898G>C p.Asp300His p.D300H ENST00000397850 300 Gac/Cac 0 Missense_Mutation C 30 ITGB2 SNP 21 C G 45143505 45143505 Broad ISX 91464 broad.mit.edu GRCh37 22 35481585 35481585 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000308700.6:c.637C>A p.Pro213Thr p.P213T ENST00000308700 NM_001008494.1 213 Cct/Act 0 Missense_Mutation C 26 ISX SNP 22 C A 33811585 33811585 Broad GGA1 26088 broad.mit.edu GRCh37 22 38021949 38021949 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000343632.4:c.1086G>A p.Met362Ile p.M362I ENST00000343632 NM_013365.4 362 atG/atA 0 Missense_Mutation G 48 GGA1 SNP 22 G A 36351895 36351895 Broad ATXN10 25814 broad.mit.edu GRCh37 22 46088947 46088947 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000252934.5:c.380C>G p.Ser127Cys p.S127C ENST00000252934 NM_013236.3 127 tCt/tGt 0 Missense_Mutation C 32 ATXN10 SNP 22 C G 44467611 44467611 Broad CELSR1 9620 broad.mit.edu GRCh37 22 46790131 46790131 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000262738.3:c.5872T>G p.Trp1958Gly p.W1958G ENST00000262738 NM_014246.1 1958 Tgg/Ggg 0 Missense_Mutation A 6 CELSR1 SNP 22 A C 45168795 45168795 Broad CELSR3 1951 broad.mit.edu GRCh37 3 48697377 48697377 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000164024.4:c.2691G>T p.Leu897= p.L897= ENST00000164024 NM_001407.2 897 ctG/ctT 0 Silent C 21 CELSR3 SNP 3 C A 48672381 48672381 Broad SLC38A3 10991 broad.mit.edu GRCh37 3 50257508 50257508 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000420502.1:n.1567C>A *523* ENST00000420502 0 Missense_Mutation C 24 SLC38A3 SNP 3 C A 50232512 50232512 Broad EPHA3 2042 broad.mit.edu GRCh37 3 89456515 89456515 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000336596.2:c.1691T>A p.Ile564Asn p.I564N ENST00000336596 NM_005233.5 564 aTt/aAt 0 Missense_Mutation T 52 EPHA3 SNP 3 T A 89539205 89539205 Broad KIAA2018 205717 broad.mit.edu GRCh37 3 113379976 113379976 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000316407.4:c.553C>G p.Pro185Ala p.P185A ENST00000316407 NM_001009899.2 185 Cca/Gca 0 Missense_Mutation G 42 KIAA2018 SNP 3 G C 114862666 114862666 Broad ACAD11 84129 broad.mit.edu GRCh37 3 132378583 132378583 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000264990.6:c.13G>T p.Ala5Ser p.A5S ENST00000264990 NM_032169.4 5 Gct/Tct 0 Missense_Mutation C 25 ACAD11 SNP 3 C A 133861273 133861273 Broad LRRC31 79782 broad.mit.edu GRCh37 3 169578465 169578465 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000316428.5:c.371A>G p.Asn124Ser p.N124S ENST00000316428 NM_024727.3 124 aAt/aGt 0 Missense_Mutation T 52 LRRC31 SNP 3 T C 171061159 171061159 Broad DLG1 1739 broad.mit.edu GRCh37 3 196792600 196792600 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000346964.2:c.2278A>G p.Lys760Glu p.K760E ENST00000346964 NM_004087.2 760 Aaa/Gaa 0 Missense_Mutation T 63 DLG1 SNP 3 T C 198276997 198276997 Broad C4orf50 389197 broad.mit.edu GRCh37 4 5975454 5975454 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000531445.1:c.1762C>A p.Gln588Lys p.Q588K ENST00000531445 588 Cag/Aag 0 Missense_Mutation G 46 C4ORF50 SNP 4 G T 6026355 6026355 Broad ANP32C 23520 broad.mit.edu GRCh37 4 165118288 165118288 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000512835.1:n.576G>A *192* ENST00000512835 0 Silent C 24 ANP32C SNP 4 C T 165337738 165337738 Broad IQGAP2 10788 broad.mit.edu GRCh37 5 75866444 75866444 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000274364.6:c.343C>T p.Gln115Ter p.Q115* ENST00000274364 NM_006633.2 115 Cag/Tag 0 Nonsense_Mutation C 21 IQGAP2 SNP 5 C T 75902200 75902200 Broad ADAM19 8728 broad.mit.edu GRCh37 5 156932760 156932760 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000257527.4:c.1047C>A p.His349Gln p.H349Q ENST00000257527 NM_033274.4 349 caC/caA 0 Missense_Mutation G 48 ADAM19 SNP 5 G T 156865338 156865338 Broad TNXB 7148 broad.mit.edu GRCh37 6 32047024 32047024 + upstream_gene_variant 5'Flank SNP C C T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000516703 0 Silent C 27 TNXB SNP 6 C T 32155002 32155002 Broad B3GAT2 135152 broad.mit.edu GRCh37 6 71571589 71571589 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000230053.6:c.829C>G p.Leu277Val p.L277V ENST00000230053 NM_080742.2 277 Ctc/Gtc 0 Missense_Mutation G 33 B3GAT2 SNP 6 G C 71628310 71628310 Broad TRIL broad.mit.edu GRCh37 7 28997131 28997131 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000322982.3:n.804T>C *268* ENST00000322982 0 Silent A 3 KIAA0644 SNP 7 A G 28963656 28963656 Broad SCRN1 9805 broad.mit.edu GRCh37 7 29980316 29980316 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000434476.2:c.781A>T p.Ser261Cys p.S261C ENST00000434476 NM_001145514.1 261 Agc/Tgc 0 Missense_Mutation T 55 SCRN1 SNP 7 T A 29946841 29946841 Broad HERPUD2 64224 broad.mit.edu GRCh37 7 35674832 35674832 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000396081.1:c.854G>A p.Arg285Gln p.R285Q ENST00000396081 NM_022373.4 285 cGa/cAa 0 Missense_Mutation C 31 HERPUD2 SNP 7 C T 35641357 35641357 Broad MUC17 140453 broad.mit.edu GRCh37 7 100683272 100683272 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000306151.4:c.8575G>A p.Val2859Met p.V2859M ENST00000306151 NM_001040105.1 2859 Gtg/Atg 0 Missense_Mutation G 40 MUC17 SNP 7 G A 100469992 100469992 Broad CUX1 1523 broad.mit.edu GRCh37 7 101559405 101559405 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000360264.3:c.74A>T p.Asp25Val p.D25V ENST00000360264 NM_001202543.1 25 gAt/gTt 0 Missense_Mutation A 12 CUX1 SNP 7 A T 101346125 101346125 Broad CDHR3 222256 broad.mit.edu GRCh37 7 105655652 105655652 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000317716.9:c.1320C>G p.Tyr440Ter p.Y440* ENST00000317716 NM_152750.4 440 taC/taG 0 Nonsense_Mutation C 20 CDHR3 SNP 7 C G 105442888 105442888 Broad NRCAM 4897 broad.mit.edu GRCh37 7 107824978 107824978 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000379028.3:c.2116A>G p.Thr706Ala p.T706A ENST00000379028 706 Aca/Gca 0 Missense_Mutation T 59 NRCAM SNP 7 T C 107612214 107612214 Broad RP1 6101 broad.mit.edu GRCh37 8 55541830 55541830 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000220676.1:c.5388G>T p.Thr1796= p.T1796= ENST00000220676 NM_006269.1 1796 acG/acT 0 Silent G 37 RP1 SNP 8 G T 55704383 55704383 Broad MYBL1 4603 broad.mit.edu GRCh37 8 67477044 67477044 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000522677.3:c.2147A>G p.Glu716Gly p.E716G ENST00000522677 NM_001080416.2 716 gAa/gGa 0 Missense_Mutation T 62 MYBL1 SNP 8 T C 67639598 67639598 Broad FAM83A 84985 broad.mit.edu GRCh37 8 124195422 124195422 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000518448.1:c.326C>T p.Ala109Val p.A109V ENST00000518448 109 gCc/gTc 0 Missense_Mutation C 26 FAM83A SNP 8 C T 124264603 124264603 Broad FER1L6 654463 broad.mit.edu GRCh37 8 125107259 125107259 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000522917.1:c.4675G>T p.Asp1559Tyr p.D1559Y ENST00000522917 NM_001039112.2 1559 Gat/Tat 0 Missense_Mutation G 41 FER1L6 SNP 8 G T 125176440 125176440 Broad SECISBP2 79048 broad.mit.edu GRCh37 9 91940489 91940489 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000375807.3:c.330G>C p.Gln110His p.Q110H ENST00000375807 NM_024077.3 110 caG/caC 0 Missense_Mutation G 36 SECISBP2 SNP 9 G C 91130309 91130309 Broad IKBKAP 8518 broad.mit.edu GRCh37 9 111670665 111670665 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000374647.5:c.1380C>A p.Asp460Glu p.D460E ENST00000374647 NM_003640.3 460 gaC/gaA 0 Missense_Mutation G 44 IKBKAP SNP 9 G T 110710486 110710486 Broad FKBP15 23307 broad.mit.edu GRCh37 9 115950085 115950085 + synonymous_variant Silent SNP G G C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000238256.3:c.1371C>G p.Ala457= p.A457= ENST00000238256 NM_015258.1 457 gcC/gcG 0 Silent G 43 FKBP15 SNP 9 G C 114989906 114989906 Broad MAN1B1 11253 broad.mit.edu GRCh37 9 139983342 139983342 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000371589.4:c.350A>T p.Glu117Val p.E117V ENST00000371589 NM_016219.4 117 gAa/gTa 0 Missense_Mutation A 9 MAN1B1 SNP 9 A T 139103163 139103163 Broad ARL13A 392509 broad.mit.edu GRCh37 X 100243217 100243217 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown x x x ENST00000450049.2:c.689G>C p.Arg230Thr p.R230T ENST00000450049 NM_001162491.1 230 aGa/aCa 0 Missense_Mutation G 33 ARL13A SNP 23 G C 100129873 100129873 Broad F8 2157 broad.mit.edu GRCh37 X 154156922 154156922 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000360256.4:c.5143C>T p.Arg1715Ter p.R1715* ENST00000360256 NM_000132.3 1715 Cga/Tga 0 Nonsense_Mutation G 40 F8 SNP 23 G A 153810116 153810116 Broad SEC16B 89866 broad.mit.edu GRCh37 1 177928095 177928105 + frameshift_variant Frame_Shift_Del DEL CTTATGTACAT CTTATGTACAT - novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000308284.6:c.1004_1014del p.Asp335GlyfsTer18 p.D335Gfs*18 ENST00000308284 NM_033127.2 335 gATGTACATAAG/g 0 Frame_Shift_Del CTTATGTACAT 24 SEC16B DEL 1 - CTTATGTACAT 176194728 176194718 Broad DHX9 1660 broad.mit.edu GRCh37 1 182822552 182822566 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL CGGTAAGGCCAGCAC CGGTAAGGCCAGCAC - novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000367549.3:c.477+1_477+15del p.X159_splice ENST00000367549 NM_001357.4 159 0 Splice_Site_Del CGGTAAGGCCAGCAC 27 DHX9 DEL 1 - CGGTAAGGCCAGCAC 181089189 181089175 Broad HEPHL1 341208 broad.mit.edu GRCh37 11 93819323 93819330 + frameshift_variant Frame_Shift_Del DEL CCACAACA CCACAACA - novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000315765.9:c.2048_2055del p.Ala683GlyfsTer12 p.A683Gfs*12 ENST00000315765 NM_001098672.1 683 gCCACAACA/g 0 Frame_Shift_Del CCACAACA 26 HEPHL1 DEL 11 - CCACAACA 93458978 93458971 Broad KRT82 3888 broad.mit.edu GRCh37 12 52797542 52797554 + frameshift_variant Frame_Shift_Del DEL ACGCGGTCCCCGG ACGCGGTCCCCGG - novel Unknown TCGA-04-1367-01 TCGA-04-1367-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000257974.2:c.551_563del p.Ser184Ter p.S184* ENST00000257974 NM_033033.3 184 tCCGGGGACCGCGTg/tg 0 Frame_Shift_Del ACGCGGTCCCCGG 6 KRT82 DEL 12 - ACGCGGTCCCCGG 51083821 51083809 Broad OIT3 170392 broad.mit.edu GRCh37 10 74684366 74684366 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000334011.5:c.1331T>A p.Ile444Asn p.I444N ENST00000334011 NM_152635.1 444 aTc/aAc 0 Missense_Mutation T 50 OIT3 SNP 10 T A 74354372 74354372 Broad GSTO2 119391 broad.mit.edu GRCh37 10 106057406 106057406 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000338595.2:c.539C>T p.Pro180Leu p.P180L ENST00000338595 NM_183239.1 180 cCc/cTc 0 Missense_Mutation C 22 GSTO2 SNP 10 C T 106047396 106047396 Broad PACS1 55690 broad.mit.edu GRCh37 11 66000526 66000526 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000320580.4:c.1827G>C p.Arg609= p.R609= ENST00000320580 NM_018026.3 609 cgG/cgC 0 Silent G 41 PACS1 SNP 11 G C 65757102 65757102 Broad SERPINH1 871 broad.mit.edu GRCh37 11 75283087 75283087 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000524558.1:c.1216C>G p.Leu406Val p.L406V ENST00000524558 406 Ctg/Gtg 0 Missense_Mutation C 24 SERPINH1 SNP 11 C G 74960735 74960735 Broad ACAD8 27034 broad.mit.edu GRCh37 11 134127114 134127115 + missense_variant Missense_Mutation DNP GG GG AT novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000281182.4:c.343_344delinsAT p.Gly115Ile p.G115I ENST00000281182 NM_014384.2 115 GGc/ATc 0 Missense_Mutation GG 35 ACAD8 DNP 11 GG AT 133632325 133632324 Broad ITGB7 3695 broad.mit.edu GRCh37 12 53589942 53589942 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000267082.5:c.858C>T p.Phe286= p.F286= ENST00000267082 NM_000889.1 286 ttC/ttT 0 Silent G 45 ITGB7 SNP 12 G A 51876209 51876209 Broad CAPS2 84698 broad.mit.edu GRCh37 12 75687098 75687098 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000409445.3:c.1151G>T p.Ser384Ile p.S384I ENST00000409445 NM_032606.3 384 aGc/aTc 0 Missense_Mutation C 28 CAPS2 SNP 12 C A 73973365 73973365 Broad N4BP2L2 10443 broad.mit.edu GRCh37 13 33017740 33017740 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000399396.3:c.934C>A p.Leu312Ile p.L312I ENST00000399396 NM_033111.4 312 Ctt/Att 0 Missense_Mutation G 35 N4BP2L2 SNP 13 G T 31915740 31915740 Broad CHAMP1 283489 broad.mit.edu GRCh37 13 115090658 115090658 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000361283.1:c.1341T>C p.Asp447= p.D447= ENST00000361283 NM_032436.2 447 gaT/gaC 0 Silent T 50 ZNF828 SNP 13 T C 114108760 114108760 Broad DYNC1H1 1778 broad.mit.edu GRCh37 14 102474654 102474654 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000360184.4:c.5957C>G p.Ser1986Cys p.S1986C ENST00000360184 NM_001376.4 1986 tCc/tGc 0 Missense_Mutation C 30 DYNC1H1 SNP 14 C G 101544407 101544407 Broad TGM7 116179 broad.mit.edu GRCh37 15 43579831 43579831 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000452443.2:c.595C>T p.Leu199= p.L199= ENST00000452443 NM_052955.2 199 Ctg/Ttg 0 Silent G 35 TGM7 SNP 15 G A 41367123 41367123 Broad TIPIN 54962 broad.mit.edu GRCh37 15 66641743 66641743 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000261881.4:c.321G>C p.Met107Ile p.M107I ENST00000261881 NM_017858.2 107 atG/atC 0 Missense_Mutation C 21 TIPIN SNP 15 C G 64428797 64428797 Broad SNX29 92017 broad.mit.edu GRCh37 16 12571642 12571642 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000566228.1:c.2104C>T p.His702Tyr p.H702Y ENST00000566228 NM_032167.3 702 Cac/Tac 0 Missense_Mutation C 25 SNX29 SNP 16 C T 12479143 12479143 Broad CDH3 1001 broad.mit.edu GRCh37 16 68716324 68716324 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000264012.4:c.1116C>T p.Asp372= p.D372= ENST00000264012 NM_001793.4 372 gaC/gaT 0 Silent C 19 CDH3 SNP 16 C T 67273825 67273825 Broad SHPK 23729 broad.mit.edu GRCh37 17 3524627 3524627 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000225519.3:c.727A>G p.Met243Val p.M243V ENST00000225519 NM_013276.2 243 Atg/Gtg 0 Missense_Mutation T 51 SHPK SNP 17 T C 3471376 3471376 Broad TP53 7157 broad.mit.edu GRCh37 17 7574003 7574003 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.1024C>T p.Arg342Ter p.R342* ENST00000269305 NM_001126112.2 342 Cga/Tga 0 Nonsense_Mutation G 39 TP53 SNP 17 G A 7514728 7514728 Broad MYH4 4622 broad.mit.edu GRCh37 17 10360858 10360858 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000255381.2:c.1776C>A p.Asn592Lys p.N592K ENST00000255381 NM_017533.2 592 aaC/aaA 0 Missense_Mutation G 48 MYH4 SNP 17 G T 10301583 10301583 Broad C17orf102 400591 broad.mit.edu GRCh37 17 32904575 32904575 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000357754.1:c.475G>A p.Ala159Thr p.A159T ENST00000357754 NM_207454.2 159 Gct/Act 0 Missense_Mutation C 28 C17orf102 SNP 17 C T 29928688 29928688 Broad POLD1 5424 broad.mit.edu GRCh37 19 50912905 50912905 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000440232.2:c.2136G>T p.Pro712= p.P712= ENST00000440232 NM_002691.3 712 ccG/ccT 0 Silent G 40 POLD1 SNP 19 G T 55604717 55604717 Broad TLX2 3196 broad.mit.edu GRCh37 2 74742853 74742853 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000233638.7:c.494C>G p.Ser165Cys p.S165C ENST00000233638 NM_016170.4 165 tCc/tGc 0 Missense_Mutation C 30 TLX2 SNP 2 C G 74596361 74596361 Broad COL5A2 1290 broad.mit.edu GRCh37 2 189904245 189904245 + synonymous_variant Silent SNP A A C novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000374866.3:c.3678T>G p.Pro1226= p.P1226= ENST00000374866 NM_000393.3 1226 ccT/ccG 0 Silent A 7 COL5A2 SNP 2 A C 189612490 189612490 Broad ACSL3 2181 broad.mit.edu GRCh37 2 223786007 223786007 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000357430.3:c.815C>A p.Pro272His p.P272H ENST00000357430 NM_004457.3 272 cCt/cAt 0 Missense_Mutation C 24 ACSL3 SNP 2 C A 223494251 223494251 Broad PPIL2 23759 broad.mit.edu GRCh37 22 22039067 22039067 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000412327.1:c.579G>A p.Pro193= p.P193= ENST00000412327 NM_148176.2 193 ccG/ccA 0 Silent G 40 PPIL2 SNP 22 G A 20369067 20369067 Broad ZBED4 9889 broad.mit.edu GRCh37 22 50280470 50280470 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000216268.5:c.3160C>G p.Pro1054Ala p.P1054A ENST00000216268 NM_014838.2 1054 Ccg/Gcg 0 Missense_Mutation C 22 ZBED4 SNP 22 C G 48666474 48666474 Broad NUP210 23225 broad.mit.edu GRCh37 3 13360796 13360796 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000254508.5:c.5413G>T p.Asp1805Tyr p.D1805Y ENST00000254508 NM_024923.3 1805 Gat/Tat 0 Missense_Mutation C 30 NUP210 SNP 3 C A 13335796 13335796 Broad WNT7A 7476 broad.mit.edu GRCh37 3 13896218 13896218 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000285018.4:c.381C>T p.Asn127= p.N127= ENST00000285018 NM_004625.3 127 aaC/aaT 0 Silent G 44 WNT7A SNP 3 G A 13871219 13871219 Broad GRID2 2895 broad.mit.edu GRCh37 4 93511305 93511305 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000282020.4:c.112A>C p.Lys38Gln p.K38Q ENST00000282020 NM_001510.2 38 Aaa/Caa 0 Missense_Mutation A 5 GRID2 SNP 4 A C 93730328 93730328 Broad CDH18 1016 broad.mit.edu GRCh37 5 19520790 19520790 + synonymous_variant Silent SNP T T A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000507958.1:c.1488A>T p.Val496= p.V496= ENST00000507958 496 gtA/gtT 0 Silent T 49 CDH18 SNP 5 T A 19556547 19556547 Broad DMGDH 29958 broad.mit.edu GRCh37 5 78322315 78322315 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000255189.3:c.2122G>C p.Asp708His p.D708H ENST00000255189 NM_013391.3 708 Gac/Cac 0 Missense_Mutation C 31 DMGDH SNP 5 C G 78358071 78358071 Broad PPIC 5480 broad.mit.edu GRCh37 5 122361523 122361523 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000306442.4:c.466T>G p.Leu156Val p.L156V ENST00000306442 NM_000943.4 156 Ttg/Gtg 0 Missense_Mutation A 2 PPIC SNP 5 A C 122389422 122389422 Broad ADAMTS19 171019 broad.mit.edu GRCh37 5 129070664 129070664 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000274487.4:c.3334A>T p.Ile1112Phe p.I1112F ENST00000274487 NM_133638.3 1112 Atc/Ttc 0 Missense_Mutation A 4 ADAMTS19 SNP 5 A T 129098563 129098563 Broad PCDHB7 56129 broad.mit.edu GRCh37 5 140554265 140554265 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000231137.3:c.1849G>A p.Val617Met p.V617M ENST00000231137 NM_018940.2 617 Gtg/Atg 0 Missense_Mutation G 40 PCDHB7 SNP 5 G A 140534449 140534449 Broad PDGFRB 5159 broad.mit.edu GRCh37 5 149516577 149516577 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000261799.4:c.34C>G p.Leu12Val p.L12V ENST00000261799 NM_002609.3 12 Ctc/Gtc 0 Missense_Mutation G 35 PDGFRB SNP 5 G C 149496770 149496770 Broad DOCK2 1794 broad.mit.edu GRCh37 5 169483729 169483729 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000256935.8:c.4337G>A p.Arg1446Gln p.R1446Q ENST00000256935 NM_004946.2 1446 cGg/cAg 0 Missense_Mutation G 39 DOCK2 SNP 5 G A 169416307 169416307 Broad MYLK4 340156 broad.mit.edu GRCh37 6 2689130 2689130 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000274643.7:c.296C>T p.Ala99Val p.A99V ENST00000274643 NM_001012418.3 99 gCg/gTg 0 Missense_Mutation G 38 MYLK4 SNP 6 G A 2634129 2634129 Broad GABBR1 2550 broad.mit.edu GRCh37 6 29598265 29598265 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000377034.4:c.445C>T p.Gln149Ter p.Q149* ENST00000377034 NM_001470.2 149 Cag/Tag 0 Nonsense_Mutation G 47 GABBR1 SNP 6 G A 29706244 29706244 Broad EPHA7 2045 broad.mit.edu GRCh37 6 93953210 93953210 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000369303.4:c.2931C>G p.Ile977Met p.I977M ENST00000369303 NM_004440.3 977 atC/atG 0 Missense_Mutation G 45 EPHA7 SNP 6 G C 94009931 94009931 Broad ABCA13 154664 broad.mit.edu GRCh37 7 48428703 48428703 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000435803.1:c.11540T>C p.Val3847Ala p.V3847A ENST00000435803 NM_152701.3 3847 gTg/gCg 0 Missense_Mutation T 59 ABCA13 SNP 7 T C 48399249 48399249 Broad HIP1 3092 broad.mit.edu GRCh37 7 75187544 75187544 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000336926.6:c.1391A>C p.Asn464Thr p.N464T ENST00000336926 NM_005338.6 464 aAt/aCt 0 Missense_Mutation T 52 HIP1 SNP 7 T G 75025480 75025480 Broad PLOD3 8985 broad.mit.edu GRCh37 7 100856464 100856464 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000223127.3:c.701A>T p.Asp234Val p.D234V ENST00000223127 NM_001084.4 234 gAt/gTt 0 Missense_Mutation T 50 PLOD3 SNP 7 T A 100643184 100643184 Broad FOXP2 93986 broad.mit.edu GRCh37 7 114284750 114284750 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000408937.3:c.1075G>T p.Glu359Ter p.E359* ENST00000408937 NM_014491.3 359 Gag/Tag 0 Nonsense_Mutation G 45 FOXP2 SNP 7 G T 114071986 114071986 Broad CPED1 79974 broad.mit.edu GRCh37 7 120876863 120876863 + synonymous_variant Silent SNP A A G novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000310396.5:c.2151A>G p.Arg717= p.R717= ENST00000310396 NM_024913.4 717 agA/agG 0 Silent A 12 C7orf58 SNP 7 A G 120664099 120664099 Broad PARP12 64761 broad.mit.edu GRCh37 7 139746809 139746809 + splice_acceptor_variant Splice_Site SNP T T A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000263549.3:c.863-2A>T p.X288_splice ENST00000263549 NM_022750.2 0 Splice_Site_SNP T 55 PARP12 SNP 7 T A 139393278 139393278 Broad TRPV5 56302 broad.mit.edu GRCh37 7 142626208 142626208 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000265310.1:c.495C>T p.His165= p.H165= ENST00000265310 NM_019841.4 165 caC/caT 0 Silent G 44 TRPV5 SNP 7 G A 142336330 142336330 Broad RP1 6101 broad.mit.edu GRCh37 8 55537421 55537421 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000220676.1:c.979C>G p.Gln327Glu p.Q327E ENST00000220676 NM_006269.1 327 Caa/Gaa 0 Missense_Mutation C 29 RP1 SNP 8 C G 55699974 55699974 Broad KIF24 347240 broad.mit.edu GRCh37 9 34256558 34256558 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000379166.2:c.3047C>G p.Pro1016Arg p.P1016R ENST00000379166 NM_194313.2 1016 cCa/cGa 0 Missense_Mutation G 47 KIF24 SNP 9 G C 34246558 34246558 Broad TRPM3 80036 broad.mit.edu GRCh37 9 73426148 73426148 + intron_variant Intron SNP A A T novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000377110.3:c.973+16615T>A *325* ENST00000377110 0 Missense_Mutation A 1 TRPM3 SNP 9 A T 72615968 72615968 Broad DCAF8L1 139425 broad.mit.edu GRCh37 X 27998772 27998772 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000441525.1:c.680G>C p.Arg227Pro p.R227P ENST00000441525 NM_001017930.1 227 cGg/cCg 0 Missense_Mutation C 23 DCAF8L1 SNP 23 C G 27908693 27908693 Broad BCOR 54880 broad.mit.edu GRCh37 X 39916574 39916574 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000378444.4:c.4429G>T p.Glu1477Ter p.E1477* ENST00000378444 NM_001123385.1 1477 Gaa/Taa 0 Nonsense_Mutation C 30 BCOR SNP 23 C A 39801518 39801518 Broad HUWE1 10075 broad.mit.edu GRCh37 X 53579651 53579651 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000342160.3:c.8698G>A p.Val2900Met p.V2900M ENST00000342160 2900 Gtg/Atg 0 Missense_Mutation C 20 HUWE1 SNP 23 C T 53596376 53596376 Broad HTR2C 3358 broad.mit.edu GRCh37 X 114141607 114141607 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000276198.1:c.1006C>G p.Leu336Val p.L336V ENST00000276198 NM_000868.2 336 Ctt/Gtt 0 Missense_Mutation C 32 HTR2C SNP 23 C G 114047863 114047863 Broad DDX26B 203522 broad.mit.edu GRCh37 X 134706896 134706896 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2097-01 TCGA-61-2097-11 Unknown Unknown Unknown x x x ENST00000370752.4:c.1444C>T p.Leu482Phe p.L482F ENST00000370752 NM_182540.4 482 Ctt/Ttt 0 Missense_Mutation C 20 DDX26B SNP 23 C T 134534562 134534562 Broad LOC730074 730074 genome.wustl.edu GRCh37 6 239806 239806 + IGR SNP A A G novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 A A G G G G Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 0 Missense_Mutation A 7 LOC730074 SNP 6 G G 184806 184806 WashU TPO 7173 genome.wustl.edu GRCh37 2 1507833 1507833 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000345913.4:c.2500G>A p.Asp834Asn p.D834N ENST00000345913 NM_000547.5 834 Gat/Aat 0 Missense_Mutation G 37 TPO SNP 2 G A 1486840 1486840 WashU PLIN4 729359 genome.wustl.edu GRCh37 19 4511818 4511818 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000301286.3:c.2112T>C p.Ser704= p.S704= ENST00000301286 NM_001080400.1 704 agT/agC 0 Silent A 6 PLIN4 SNP 19 A G 4462818 4462818 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578403 7578403 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.527G>A p.Cys176Tyr p.C176Y ENST00000269305 NM_001126112.2 176 tGc/tAc 0 Missense_Mutation C 25 TP53 SNP 17 C T 7519128 7519128 WashU COL5A3 50509 genome.wustl.edu GRCh37 19 10085074 10085074 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264828.3:c.3353G>C p.Gly1118Ala p.G1118A ENST00000264828 NM_015719.3 1118 gGg/gCg 0 Missense_Mutation C 22 COL5A3 SNP 19 G G 9946074 9946074 WashU FGD5 152273 genome.wustl.edu GRCh37 3 14960261 14960261 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000285046.5:c.3490G>A p.Val1164Ile p.V1164I ENST00000285046 NM_152536.3 1164 Gtc/Atc 0 Missense_Mutation G 44 FGD5 SNP 3 G A 14935265 14935265 WashU PTER 9317 genome.wustl.edu GRCh37 10 16528617 16528617 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378000.1:c.698+1G>C p.X233_splice ENST00000378000 NM_001001484.2 0 Splice_Site_SNP G 44 PTER SNP 10 G C 16568623 16568623 WashU RBM24 221662 genome.wustl.edu GRCh37 6 17284942 17284942 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379052.5:c.347G>A p.Gly116Glu p.G116E ENST00000379052 NM_001143942.1 116 gGg/gAg 0 Missense_Mutation G 43 RBM24 SNP 6 G A 17392921 17392921 WashU IL25 64806 genome.wustl.edu GRCh37 14 23844833 23844833 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329715.2:c.279-1G>A p.X93_splice ENST00000329715 NM_022789.3 0 Splice_Site_SNP G 35 IL25 SNP 14 G A 22914673 22914673 WashU KRT18P55 284085 genome.wustl.edu GRCh37 17 26604021 26604021 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000577198.1:n.941G>T *314* ENST00000577198 0 Nonsense_Mutation C 30 FLJ40504 SNP 17 A A 23628148 23628148 WashU KIAA0319 9856 genome.wustl.edu GRCh37 6 24576596 24576596 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378214.3:c.1734G>C p.Gln578His p.Q578H ENST00000378214 NM_014809.3 578 caG/caC 0 Missense_Mutation C 24 KIAA0319 SNP 6 C G 24684575 24684575 WashU EFCAB6 64800 genome.wustl.edu GRCh37 22 44022441 44022441 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262726.7:c.2351G>A p.Arg784His p.R784H ENST00000262726 NM_022785.3 784 cGc/cAc 0 Missense_Mutation C 27 EFCAB6 SNP 22 T T 42353774 42353774 WashU SRF 6722 genome.wustl.edu GRCh37 6 43144302 43144302 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265354.4:c.1059G>T p.Gln353His p.Q353H ENST00000265354 NM_003131.2 353 caG/caT 0 Missense_Mutation G 34 SRF SNP 6 G T 43252280 43252280 WashU SETD2 29072 genome.wustl.edu GRCh37 3 47139491 47139491 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409792.3:c.5096C>T p.Ala1699Val p.A1699V ENST00000409792 NM_014159.6 1699 gCa/gTa 0 Missense_Mutation G 46 SETD2 SNP 3 G A 47114495 47114495 WashU NR1H3 10062 genome.wustl.edu GRCh37 11 47290239 47290239 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000467728.1:c.1336C>T p.His446Tyr p.H446Y ENST00000467728 446 Cac/Tac 0 Missense_Mutation C 25 NR1H3 SNP 11 T T 47246815 47246815 WashU ATP8B4 79895 genome.wustl.edu GRCh37 15 50264915 50264915 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000284509.6:c.1107A>T p.Ala369= p.A369= ENST00000284509 NM_024837.3 369 gcA/gcT 0 Silent T 63 ATP8B4 SNP 15 T A 48052207 48052207 WashU ESYT1 23344 genome.wustl.edu GRCh37 12 56528127 56528127 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000541590.1:c.1577C>G p.Ala526Gly p.A526G ENST00000541590 526 gCt/gGt 0 Missense_Mutation C 28 ESYT1 SNP 12 C G 54814394 54814394 WashU MS4A7 58475 genome.wustl.edu GRCh37 11 60161283 60161283 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300184.3:c.672A>T p.Ser224= p.S224= ENST00000300184 NM_206939.1 224 tcA/tcT 0 Silent A 6 MS4A7 SNP 11 A T 59917859 59917859 WashU DDB1 1642 genome.wustl.edu GRCh37 11 61079255 61079256 + splice_donor_variant,coding_sequence_variant Splice_Site DNP CC CC AA novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 CC CC CC AA CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000301764.7:c.2277_2277+1delinsTT p.X759_splice ENST00000301764 NM_001923.4 759 0 Missense CC 18 DDB1 DNP 11 CC AA 60835832 60835831 WashU LGALS12 85329 genome.wustl.edu GRCh37 11 63283168 63283168 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340246.5:c.850C>T p.Pro284Ser p.P284S ENST00000340246 284 Ccc/Tcc 0 Missense_Mutation C 22 LGALS12 SNP 11 C T 63039744 63039744 WashU CILP 8483 genome.wustl.edu GRCh37 15 65490133 65490133 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261883.4:c.2491G>C p.Glu831Gln p.E831Q ENST00000261883 NM_003613.3 831 Gag/Cag 0 Missense_Mutation C 30 CILP SNP 15 C G 63277186 63277186 WashU AMER1 139285 genome.wustl.edu GRCh37 X 63412870 63412870 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330258.3:c.297G>T p.Leu99= p.L99= ENST00000330258 NM_152424.3 99 ctG/ctT 0 Silent C 29 FAM123B SNP 23 C A 63329595 63329595 WashU COL19A1 1310 genome.wustl.edu GRCh37 6 70881878 70881878 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322773.4:c.2591T>G p.Leu864Trp p.L864W ENST00000322773 NM_001858.4 864 tTg/tGg 0 Missense_Mutation T 63 COL19A1 SNP 6 T G 70938599 70938599 WashU ZSWIM8 23053 genome.wustl.edu GRCh37 10 75557650 75557650 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398706.2:c.3774G>T p.Gly1258= p.G1258= ENST00000398706 NM_015037.3 1258 ggG/ggT 0 Silent G 43 KIAA0913 SNP 10 G T 75227656 75227656 WashU PRKRIRP7 genome.wustl.edu GRCh37 8 79674056 79674056 + non_coding_transcript_exon_variant RNA SNP C C G novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000520248.1:n.611G>C *204* ENST00000520248 0 Splice_Site_SNP C 24 ENSG00000215028 SNP 8 C G 79836611 79836611 WashU KIAA1009 22832 genome.wustl.edu GRCh37 6 84904724 84904724 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000403245.3:c.905C>G p.Ser302Ter p.S302* ENST00000403245 NM_014895.2 302 tCa/tGa 0 Nonsense_Mutation G 45 KIAA1009 SNP 6 G C 84961443 84961443 WashU TMEM126A 84233 genome.wustl.edu GRCh37 11 85366721 85366721 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000304511.2:c.364G>A p.Ala122Thr p.A122T ENST00000304511 NM_032273.3 122 Gct/Act 0 Missense_Mutation G 42 TMEM126A SNP 11 G A 85044369 85044369 WashU SFTPB 6439 genome.wustl.edu GRCh37 2 85892796 85892796 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393822.3:c.551T>G p.Leu184Arg p.L184R ENST00000393822 184 cTg/cGg 0 Missense_Mutation A 7 SFTPB SNP 2 A C 85746307 85746307 WashU CEP290 80184 genome.wustl.edu GRCh37 12 88505038 88505038 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000552810.1:c.2308G>T p.Ala770Ser p.A770S ENST00000552810 NM_025114.3 770 Gca/Tca 0 Missense_Mutation C 28 CEP290 SNP 12 C A 87029169 87029169 WashU FOLH1B 219595 genome.wustl.edu GRCh37 11 89429832 89429832 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000525540.1:n.1604C>A *535* ENST00000525540 0 Missense_Mutation C 20 FOLH1B SNP 11 C A 89069480 89069480 WashU PTCH1 5727 genome.wustl.edu GRCh37 9 98220500 98220500 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331920.6:c.2963T>A p.Val988Glu p.V988E ENST00000331920 NM_000264.3 988 gTg/gAg 0 Missense_Mutation A 6 PTCH1 SNP 9 A T 97260321 97260321 WashU ARPC1A 10552 genome.wustl.edu GRCh37 7 98941960 98941960 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262942.5:c.214G>A p.Ala72Thr p.A72T ENST00000262942 NM_001190996.1 72 Gca/Aca 0 Missense_Mutation G 42 ARPC1A SNP 7 A A 98779896 98779896 WashU TMTC4 84899 genome.wustl.edu GRCh37 13 101287301 101287301 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342624.5:c.1351C>G p.Leu451Val p.L451V ENST00000342624 NM_032813.2 451 Ctg/Gtg 0 Missense_Mutation G 35 TMTC4 SNP 13 C C 100085302 100085302 WashU SLC25A53 401612 genome.wustl.edu GRCh37 X 103349554 103349554 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G G A G A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357421.4:c.387C>T p.Ala129= p.A129= ENST00000357421 NM_001012755.3 129 gcC/gcT 0 Silent G 39 MCART6 SNP 23 G A 103236210 103236210 WashU RINT1 60561 genome.wustl.edu GRCh37 7 105183036 105183036 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257700.2:c.455T>C p.Ile152Thr p.I152T ENST00000257700 NM_021930.4 152 aTt/aCt 0 Missense_Mutation T 52 RINT1 SNP 7 C C 104970272 104970272 WashU HENMT1 113802 genome.wustl.edu GRCh37 1 109200122 109200122 + missense_variant Missense_Mutation SNP T T A rs11540221 Unknown TCGA-13-1404-01 TCGA-13-1404-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370032.5:c.101A>T p.Gln34Leu p.Q34L ENST00000370032 NM_144584.2 34 cAg/cTg 0 Missense_Mutation T 55 C1orf59 SNP 1 T A 109001645 109001645 WashU HIPK1 204851 genome.wustl.edu GRCh37 1 114483621 114483621 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369558.1:c.616A>G p.Lys206Glu p.K206E ENST00000369558 206 Aag/Gag 0 Missense_Mutation A 13 HIPK1 SNP 1 A G 114285144 114285144 WashU DSCAML1 57453 genome.wustl.edu GRCh37 11 117651238 117651238 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321322.6:c.514A>T p.Ile172Phe p.I172F ENST00000321322 NM_020693.2 172 Atc/Ttc 0 Missense_Mutation T 50 DSCAML1 SNP 11 A A 117156448 117156448 WashU POLQ 10721 genome.wustl.edu GRCh37 3 121186369 121186369 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264233.5:c.6964C>G p.Pro2322Ala p.P2322A ENST00000264233 NM_199420.3 2322 Cca/Gca 0 Missense_Mutation G 43 POLQ SNP 3 G C 122669059 122669059 WashU PLXNA4 91584 genome.wustl.edu GRCh37 7 131831327 131831327 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359827.3:c.4997G>A p.Gly1666Glu p.G1666E ENST00000359827 1666 gGg/gAg 0 Missense_Mutation C 22 PLXNA4 SNP 7 C T 131481867 131481867 WashU TMEM71 137835 genome.wustl.edu GRCh37 8 133740207 133740207 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356838.3:c.456G>C p.Leu152= p.L152= ENST00000356838 NM_144649.2 152 ctG/ctC 0 Silent C 29 TMEM71 SNP 8 C G 133809389 133809389 WashU C9orf171 389799 genome.wustl.edu GRCh37 9 135447859 135447859 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343036.2:c.925C>A p.Gln309Lys p.Q309K ENST00000343036 NM_207417.1 309 Cag/Aag 0 Missense_Mutation C 21 C9orf171 SNP 9 C A 134437680 134437680 WashU ETF1 2107 genome.wustl.edu GRCh37 5 137853274 137853274 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360541.5:c.378G>C p.Leu126Phe p.L126F ENST00000360541 NM_004730.3 126 ttG/ttC 0 Missense_Mutation C 17 ETF1 SNP 5 C G 137881173 137881173 WashU KMT2C 58508 genome.wustl.edu GRCh37 7 151851443 151851443 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262189.6:c.12048C>T p.Ser4016= p.S4016= ENST00000262189 NM_170606.2 4016 agC/agT 0 Silent G 46 MLL3 SNP 7 G A 151482376 151482376 WashU ZNF275 10838 genome.wustl.edu GRCh37 X 152612477 152612477 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370251.3:c.334C>A p.Leu112Ile p.L112I ENST00000370251 NM_001080485.3 112 Ctt/Att 0 Missense_Mutation C 28 ZNF275 SNP 23 C A 152265671 152265671 WashU VHLL 391104 genome.wustl.edu GRCh37 1 156268743 156268743 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339922.3:c.238T>G p.Tyr80Asp p.Y80D ENST00000339922 NM_001004319.2 80 Tac/Gac 0 Missense_Mutation A 15 VHLL SNP 1 A C 154535367 154535367 WashU VEPH1 79674 genome.wustl.edu GRCh37 3 157131725 157131725 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000362010.2:c.851C>T p.Pro284Leu p.P284L ENST00000362010 NM_001167912.1 284 cCc/cTc 0 Missense_Mutation G 43 VEPH1 SNP 3 G A 158614419 158614419 WashU NUF2 83540 genome.wustl.edu GRCh37 1 163318801 163318801 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271452.3:c.1191A>T p.Glu397Asp p.E397D ENST00000271452 NM_145697.2 397 gaA/gaT 0 Missense_Mutation A 1 NUF2 SNP 1 A T 161585425 161585425 WashU TTC21B 79809 genome.wustl.edu GRCh37 2 166770099 166770099 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000243344.7:c.2196C>A p.Tyr732Ter p.Y732* ENST00000243344 NM_024753.4 732 taC/taA 0 Nonsense_Mutation G 48 TTC21B SNP 2 G T 166478345 166478345 WashU TTN 7273 genome.wustl.edu GRCh37 2 179643657 179643657 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.4152T>C p.Ala1384= p.A1384= ENST00000589042 NM_001267550.1 1384 gcT/gcC 0 Silent A 7 TTN SNP 2 A G 179351902 179351902 WashU DNAH7 56171 genome.wustl.edu GRCh37 2 196749490 196749490 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312428.6:c.5582G>T p.Cys1861Phe p.C1861F ENST00000312428 NM_018897.2 1861 tGt/tTt 0 Missense_Mutation C 17 DNAH7 SNP 2 C A 196457735 196457735 WashU SRGAP2 23380 genome.wustl.edu GRCh37 1 206567008 206567008 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295713.5:c.549A>G p.His184Arg p.H184R ENST00000295713 184 cAt/cGt 0 Missense_Mutation A 8 SRGAP2 SNP 1 A G 204633631 204633631 WashU DEPDC5 9681 genome.wustl.edu GRCh37 22 32202135 32202159 + frameshift_variant Frame_Shift_Del DEL TTGTAATAGTTTCACCCCACGAATA TTGTAATAGTTTCACCCCACGAATA - novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 TTGTAATAGTTTCACCCCACGAATA TTGTAATAGTTTCACCCCACGAATA TTGTAATAGTTTCACCCCACGAATA - TTGTAATAGTTTCACCCCACGAATA TTGTAATAGTTTCACCCCACGAATA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382112.3:c.1245_1269del p.Phe415LeufsTer35 p.F415Lfs*35 ENST00000382112 NM_001136029.2 415 ttTTGTAATAGTTTCACCCCACGAATA/tt 0 Frame_Shift_Del TTGTAATAGTTTCACCCCACGAATA 64 DEPDC5 DEL 22 TTGTAATAGTTTCACCCCACGAATA - 30532159 30532135 WashU CCDC40 55036 genome.wustl.edu GRCh37 17 78032341 78032355 + inframe_deletion In_Frame_Del DEL ACATGCAGAACATCG ACATGCAGAACATCG - novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 ACATGCAGAACATCG ACATGCAGAACATCG ACATGCAGAACATCG - ACATGCAGAACATCG ACATGCAGAACATCG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397545.4:c.1210_1224del p.Met404_Asp408del p.M404_D408del ENST00000397545 NM_017950.3 403 tACATGCAGAACATCGac/tac 0 In_Frame_Del ACATGCAGAACATCG 14 CCDC40 DEL 17 ACATGCAGAACATCG - 75646950 75646936 WashU METTL8 79828 genome.wustl.edu GRCh37 2 172195912 172195914 + inframe_deletion In_Frame_Del DEL ATG ATG - novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 ATG ATG ATG - ATG ATG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375258.4:c.386_388del p.Ser129del p.S129del ENST00000375258 NM_024770.3 129 tCATgg/tgg 0 In_Frame_Del ATG 8 METTL8 DEL 2 ATG - 171904160 171904158 WashU FAAH 2166 genome.wustl.edu GRCh37 1 46871457 46871457 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000243167.8:c.776A>G p.Asn259Ser p.N259S ENST00000243167 NM_001441.2 259 aAc/aGc 0 Missense_Mutation A 2 FAAH SNP 1 A G 46644044 46644044 WashU JAK3 3718 genome.wustl.edu GRCh37 19 17946849 17946849 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000458235.1:c.1798C>T p.Gln600Ter p.Q600* ENST00000458235 NM_000215.3 600 Cag/Tag 0 Nonsense_Mutation G 46 JAK3 SNP 19 G A 17807849 17807849 WashU CARD10 29775 genome.wustl.edu GRCh37 22 37893155 37893155 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1404-01 TCGA-13-1404-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000403299.1:c.1818C>T p.Ser606= p.S606= ENST00000403299 606 agC/agT 0 Silent G 42 CARD10 SNP 22 A A 36223101 36223101 WashU ZNF426 79088 genome.wustl.edu GRCh37 19 9641741 9641741 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000535489.1:c.328T>C p.Trp110Arg p.W110R ENST00000535489 110 Tgg/Cgg 0 Missense_Mutation A 8 ZNF426 SNP 19 A G 9502741 9502741 WashU ZNF812 729648 genome.wustl.edu GRCh37 19 9804486 9804486 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000457674.2:c.125C>T p.Thr42Met p.T42M ENST00000457674 NM_001199814.1 42 aCg/aTg 0 Missense_Mutation G 40 ZNF812 SNP 19 G A 9665486 9665486 WashU HDAC11 79885 genome.wustl.edu GRCh37 3 13545660 13545660 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295757.3:c.716A>T p.Glu239Val p.E239V ENST00000295757 NM_024827.3 239 gAg/gTg 0 Nonsense_Mutation A 11 HDAC11 SNP 3 A T 13520660 13520660 WashU FGD5 152273 genome.wustl.edu GRCh37 3 14861824 14861824 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000285046.5:c.1246G>A p.Val416Met p.V416M ENST00000285046 NM_152536.3 416 Gtg/Atg 0 Missense_Mutation G 40 FGD5 SNP 3 G A 14836828 14836828 WashU CCT8L2 150160 genome.wustl.edu GRCh37 22 17072821 17072821 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359963.3:c.620C>T p.Ala207Val p.A207V ENST00000359963 NM_014406.4 207 gCg/gTg 0 Missense_Mutation G 38 CCT8L2 SNP 22 G A 15452821 15452821 WashU CD19 930 genome.wustl.edu GRCh37 16 28943743 28943743 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000538922.1:c.165G>T p.Glu55Asp p.E55D ENST00000538922 NM_001178098.1 55 gaG/gaT 0 Missense_Mutation G 36 CD19 SNP 16 G T 28851244 28851244 WashU CHMP4B 128866 genome.wustl.edu GRCh37 20 32436293 32436293 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000217402.2:c.211C>A p.Arg71Ser p.R71S ENST00000217402 NM_176812.4 71 Cgt/Agt 0 Missense_Mutation C 27 CHMP4B SNP 20 C A 31899954 31899954 WashU SNX18P7 158177 genome.wustl.edu GRCh37 9 33576858 33576858 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 G G A A A A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000454116.1:n.481G>A *161* ENST00000454116 0 Silent G 42 ANKRD18B SNP 9 A A 33566858 33566858 WashU PRRG1 5638 genome.wustl.edu GRCh37 X 37285167 37285167 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000465127.1:c.85A>G p.Arg29Gly p.R29G ENST00000465127 29 Aga/Gga 0 Missense_Mutation A 3 PRRG1 SNP 23 A G 37170088 37170088 WashU CAP1 10487 genome.wustl.edu GRCh37 1 40530176 40530176 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372797.3:c.469A>G p.Met157Val p.M157V ENST00000372797 NM_006367.3 157 Atg/Gtg 0 Missense_Mutation A 4 CAP1 SNP 1 A G 40302763 40302763 WashU LRFN1 57622 genome.wustl.edu GRCh37 19 39804613 39804613 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000248668.4:c.1364A>G p.Gln455Arg p.Q455R ENST00000248668 NM_020862.1 455 cAg/cGg 0 Missense_Mutation T 55 LRFN1 SNP 19 T C 44496453 44496453 WashU MAP4 4134 genome.wustl.edu GRCh37 3 48019417 48019417 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360240.6:c.230C>T p.Pro77Leu p.P77L ENST00000360240 NM_002375.4 77 cCa/cTa 0 Missense_Mutation G 47 MAP4 SNP 3 G A 47994421 47994421 WashU KRT73 319101 genome.wustl.edu GRCh37 12 53007473 53007473 + missense_variant,splice_region_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000305748.3:c.983A>C p.Lys328Thr p.K328T ENST00000305748 NM_175068.2 328 aAg/aCg 0 Missense_Mutation T 56 KRT73 SNP 12 T G 51293740 51293740 WashU USP34 9736 genome.wustl.edu GRCh37 2 61475758 61475758 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398571.2:c.6282T>C p.Asn2094= p.N2094= ENST00000398571 NM_014709.3 2094 aaT/aaC 0 Silent A 16 USP34 SNP 2 A G 61329262 61329262 WashU AURKC 6795 genome.wustl.edu GRCh37 19 57744900 57744900 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302804.7:c.508G>C p.Glu170Gln p.E170Q ENST00000302804 NM_001015878.1 170 Gag/Cag 0 Missense_Mutation G 33 AURKC SNP 19 G C 62436712 62436712 WashU CCDC88B 283234 genome.wustl.edu GRCh37 11 64120233 64120233 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356786.5:c.3374C>T p.Ala1125Val p.A1125V ENST00000356786 NM_032251.5 1125 gCc/gTc 0 Missense_Mutation C 26 CCDC88B SNP 11 C T 63876809 63876809 WashU CLEC4F 165530 genome.wustl.edu GRCh37 2 71043821 71043821 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272367.2:c.692C>G p.Ala231Gly p.A231G ENST00000272367 NM_001258027.1 231 gCc/gGc 0 Missense_Mutation G 42 CLEC4F SNP 2 G C 70897329 70897329 WashU DNAH17 8632 genome.wustl.edu GRCh37 17 76423180 76423180 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389840.5:c.12667G>A p.Val4223Met p.V4223M ENST00000389840 4223 Gtg/Atg 0 Missense_Mutation C 19 DNAH17 SNP 17 C T 73934775 73934775 WashU RPS6KL1 83694 genome.wustl.edu GRCh37 14 75373786 75373786 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000555647.1:c.1581A>G p.Glu527= p.E527= ENST00000555647 527 gaA/gaG 0 Silent T 56 RPS6KL1 SNP 14 T C 74443539 74443539 WashU RNF213 57674 genome.wustl.edu GRCh37 17 78363858 78363858 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000582970.1:c.15332C>T p.Pro5111Leu p.P5111L ENST00000582970 NM_001256071.1 5111 cCg/cTg 0 Missense_Mutation C 23 RNF213 SNP 17 C T 75978453 75978453 WashU EFTUD1 79631 genome.wustl.edu GRCh37 15 82551460 82551460 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268206.7:c.128A>G p.Asn43Ser p.N43S ENST00000268206 NM_024580.5 43 aAt/aGt 0 Missense_Mutation T 52 EFTUD1 SNP 15 T C 80338515 80338515 WashU GBP7 388646 genome.wustl.edu GRCh37 1 89637595 89637595 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294671.2:c.24A>T p.Pro8= p.P8= ENST00000294671 NM_207398.2 8 ccA/ccT 0 Silent T 55 GBP7 SNP 1 T A 89410183 89410183 WashU PCDH19 57526 genome.wustl.edu GRCh37 X 99551803 99551803 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373034.4:c.2919C>T p.Pro973= p.P973= ENST00000373034 NM_001184880.1 973 ccC/ccT 0 Silent G 43 PCDH19 SNP 23 G A 99438459 99438459 WashU BCAP29 55973 genome.wustl.edu GRCh37 7 107221265 107221265 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379119.2:c.48A>T p.Ile16= p.I16= ENST00000379119 NM_001008405.2 16 atA/atT 0 Silent A 15 BCAP29 SNP 7 A T 107008501 107008501 WashU COL4A6 1288 genome.wustl.edu GRCh37 X 107462959 107462959 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372216.4:c.296T>A p.Val99Asp p.V99D ENST00000372216 NM_001847.2 99 gTt/gAt 0 Missense_Mutation A 2 COL4A6 SNP 23 A T 107349615 107349615 WashU ATM 472 genome.wustl.edu GRCh37 11 108202174 108202174 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000278616.4:c.7519G>A p.Asp2507Asn p.D2507N ENST00000278616 NM_000051.3 2507 Gac/Aac 0 Missense_Mutation G 33 ATM SNP 11 G A 107707384 107707384 WashU COL4A5 1287 genome.wustl.edu GRCh37 X 107930810 107930810 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328300.6:c.4414C>T p.Arg1472Cys p.R1472C ENST00000328300 NM_033380.2 1472 Cgc/Tgc 0 Missense_Mutation C 19 COL4A5 SNP 23 C T 107817466 107817466 WashU PHLDB2 90102 genome.wustl.edu GRCh37 3 111672808 111672808 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000431670.2:c.2804G>A p.Cys935Tyr p.C935Y ENST00000431670 NM_001134438.1 935 tGt/tAt 0 Missense_Mutation G 48 PHLDB2 SNP 3 G A 113155498 113155498 WashU OR8G3P genome.wustl.edu GRCh37 11 124086295 124086295 + non_coding_transcript_exon_variant RNA SNP T T G novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000533406.2:n.822T>G *274* ENST00000533406 0 Nonsense_Mutation T 49 ENSG00000196703 SNP 11 T G 123591505 123591505 WashU POTEJ 653781 genome.wustl.edu GRCh37 2 131414332 131414332 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000409602.1:c.1999G>T p.Asp667Tyr p.D667Y ENST00000409602 NM_001277083.1 667 Gat/Tat 0 Missense_Mutation G 45 LOC653781 SNP 2 G T 131130802 131130802 WashU PCDHA11 56138 genome.wustl.edu GRCh37 5 140249861 140249861 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398640.2:c.1173C>G p.His391Gln p.H391Q ENST00000398640 NM_018902.3 391 caC/caG 0 Missense_Mutation C 19 PCDHA11 SNP 5 C G 140230045 140230045 WashU OR2A5 393046 genome.wustl.edu GRCh37 7 143747797 143747797 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000408906.2:c.303C>A p.Thr101= p.T101= ENST00000408906 NM_012365.1 101 acC/acA 0 Silent C 24 OR2A5 SNP 7 C A 143378730 143378730 WashU ANKRD35 148741 genome.wustl.edu GRCh37 1 145561130 145561130 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355594.4:c.818C>G p.Pro273Arg p.P273R ENST00000355594 NM_144698.4 273 cCt/cGt 0 Missense_Mutation C 24 ANKRD35 SNP 1 C G 144272487 144272487 WashU NSD1 64324 genome.wustl.edu GRCh37 5 176687050 176687050 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000439151.2:c.5027C>A p.Ala1676Asp p.A1676D ENST00000439151 NM_022455.4 1676 gCt/gAt 0 Missense_Mutation C 28 NSD1 SNP 5 C A 176619656 176619656 WashU ZNF454 285676 genome.wustl.edu GRCh37 5 178391968 178391968 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000320129.3:c.563C>G p.Ser188Cys p.S188C ENST00000320129 NM_182594.2 188 tCt/tGt 0 Missense_Mutation C 32 ZNF454 SNP 5 C G 178324574 178324574 WashU TTN 7273 genome.wustl.edu GRCh37 2 179395464 179395464 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.105878A>T p.Lys35293Ile p.K35293I ENST00000589042 NM_001267550.1 35293 aAa/aTa 0 Nonsense_Mutation T 64 TTN SNP 2 T A 179103710 179103710 WashU SLC45A3 85414 genome.wustl.edu GRCh37 1 205631993 205631993 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367145.3:c.926C>T p.Pro309Leu p.P309L ENST00000367145 NM_033102.2 309 cCg/cTg 0 Missense_Mutation G 39 SLC45A3 SNP 1 G A 203898616 203898616 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578431 7578433 + stop_gained,frameshift_variant Nonsense_Mutation DEL GTG GTG TT novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 - - - T - - Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.497_499delinsAA p.Ser166Ter p.S166* ENST00000269305 NM_001126112.2 166 tCACag/tAAag 0 Indel 48 TP53 Indel 17 TT 7519158 7519156 WashU FAIM2 23017 genome.wustl.edu GRCh37 12 50272394 50272394 + intron_variant Intron SNP T T C novel Unknown TCGA-24-0980-01 TCGA-24-0980-10 T T C T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000320634.3:c.802-7958A>G *268* ENST00000320634 NM_012306.3 0 Missense_Mutation T 57 ENSG00000202582 SNP 12 C T 48558661 48558661 WashU GPX6 257202 genome.wustl.edu GRCh37 6 28472134 28472134 + missense_variant Missense_Mutation SNP G G C Unknown TCGA-24-0980-01 TCGA-24-0980-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000361902.1:c.601C>G p.Gln201Glu p.Q201E ENST00000361902 NM_182701.1 201 Cag/Gag 0 Missense_Mutation G 47 GPX6 SNP 6 G C 28580113 28580113 WashU AC009299.4 728220 genome.wustl.edu GRCh37 2 162138424 162138425 + non_coding_transcript_exon_variant RNA INS - - G Unknown TCGA-24-0980-01 TCGA-24-0980-10 - - - G - - Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000429684.1:n.12_13insG *4* ENST00000429684 0 Frame_Shift_Ins - 54 LOC728220 INS 2 - G 161846671 161846670 WashU PLEKHM2 23207 broad.mit.edu GRCh37 1 16057121 16057121 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000375799.3:c.2303C>G p.Pro768Arg p.P768R ENST00000375799 NM_015164.2 768 cCc/cGc 0 Missense_Mutation C 22 PLEKHM2 SNP 1 C G 15929708 15929708 Broad ADC 113451 broad.mit.edu GRCh37 1 33549673 33549673 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000294517.6:c.224C>G p.Pro75Arg p.P75R ENST00000294517 NM_052998.2 75 cCa/cGa 0 Missense_Mutation C 21 ADC SNP 1 C G 33322260 33322260 Broad MAP7D1 55700 broad.mit.edu GRCh37 1 36641855 36641855 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000373151.2:c.906G>A p.Thr302= p.T302= ENST00000373151 NM_018067.3 302 acG/acA 0 Silent G 38 MAP7D1 SNP 1 G A 36414442 36414442 Broad ZC3H12A 80149 broad.mit.edu GRCh37 1 37949076 37949076 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000373087.6:c.1664G>A p.Ser555Asn p.S555N ENST00000373087 NM_025079.2 555 aGc/aAc 0 Missense_Mutation G 34 ZC3H12A SNP 1 G A 37721663 37721663 Broad RRAGC 64121 broad.mit.edu GRCh37 1 39321527 39321527 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000373001.3:c.494A>G p.Tyr165Cys p.Y165C ENST00000373001 NM_022157.3 165 tAc/tGc 0 Missense_Mutation T 57 RRAGC SNP 1 T C 39094114 39094114 Broad CC2D1B 200014 broad.mit.edu GRCh37 1 52823368 52823368 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000371586.2:c.1600C>T p.Arg534Trp p.R534W ENST00000371586 NM_032449.2 534 Cgg/Tgg 0 Missense_Mutation G 38 CC2D1B SNP 1 G A 52595956 52595956 Broad PDE4B 5142 broad.mit.edu GRCh37 1 66829221 66829221 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000329654.4:c.1251G>T p.Ser417= p.S417= ENST00000329654 NM_001037341.1 417 tcG/tcT 0 Silent G 37 PDE4B SNP 1 G T 66601809 66601809 Broad SCAMP3 10067 broad.mit.edu GRCh37 1 155231929 155231929 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000302631.3:c.14G>C p.Arg5Thr p.R5T ENST00000302631 NM_005698.3 5 aGa/aCa 0 Missense_Mutation C 32 SCAMP3 SNP 1 C G 153498553 153498553 Broad OR6Y1 391112 broad.mit.edu GRCh37 1 158517256 158517256 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000302617.3:c.640A>C p.Ile214Leu p.I214L ENST00000302617 NM_001005189.1 214 Att/Ctt 0 Missense_Mutation T 49 OR6Y1 SNP 1 T G 156783880 156783880 Broad TARBP1 6894 broad.mit.edu GRCh37 1 234565355 234565355 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000040877.1:c.2678G>A p.Trp893Ter p.W893* ENST00000040877 NM_005646.3 893 tGg/tAg 0 Nonsense_Mutation C 21 TARBP1 SNP 1 C T 232631978 232631978 Broad RPP38 10557 broad.mit.edu GRCh37 10 15145376 15145376 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000378197.4:c.63G>T p.Val21= p.V21= ENST00000378197 NM_183005.4 21 gtG/gtT 0 Silent G 45 RPP38 SNP 10 G T 15185382 15185382 Broad DMBT1 1755 broad.mit.edu GRCh37 10 124390549 124390549 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000368909.3:c.5711G>T p.Gly1904Val p.G1904V ENST00000368909 NM_007329.2 1904 gGt/gTt 0 Missense_Mutation G 44 DMBT1 SNP 10 G T 124380539 124380539 Broad QSER1 79832 broad.mit.edu GRCh37 11 32956729 32956729 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000399302.2:c.3538G>C p.Gly1180Arg p.G1180R ENST00000399302 NM_001076786.1 1180 Ggg/Cgg 0 Missense_Mutation G 35 QSER1 SNP 11 G C 32913305 32913305 Broad GYLTL1B 120071 broad.mit.edu GRCh37 11 45948882 45948882 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000531526.1:c.1342G>T p.Ala448Ser p.A448S ENST00000531526 NM_152312.3 448 Gcc/Tcc 0 Missense_Mutation G 34 GYLTL1B SNP 11 G T 45905458 45905458 Broad B3GAT3 26229 broad.mit.edu GRCh37 11 62384591 62384591 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265471.5:c.486C>G p.Asn162Lys p.N162K ENST00000265471 NM_012200.3 162 aaC/aaG 0 Missense_Mutation G 48 B3GAT3 SNP 11 G C 62141167 62141167 Broad UTP20 27340 broad.mit.edu GRCh37 12 101684036 101684036 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000261637.4:c.719A>T p.His240Leu p.H240L ENST00000261637 NM_014503.2 240 cAc/cTc 0 Missense_Mutation A 6 UTP20 SNP 12 A T 100208167 100208167 Broad LCP1 3936 broad.mit.edu GRCh37 13 46732676 46732676 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000398576.2:c.339C>A p.Gly113= p.G113= ENST00000398576 113 ggC/ggA 0 Silent G 46 LCP1 SNP 13 G T 45630677 45630677 Broad CGRRF1 10668 broad.mit.edu GRCh37 14 54989273 54989273 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000216420.7:c.206G>C p.Gly69Ala p.G69A ENST00000216420 NM_006568.2 69 gGc/gCc 0 Missense_Mutation G 42 CGRRF1 SNP 14 G C 54059023 54059023 Broad FNTB 2342 broad.mit.edu GRCh37 14 65521330 65521330 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000246166.2:c.1105G>A p.Gly369Ser p.G369S ENST00000246166 NM_002028.3 369 Ggc/Agc 0 Missense_Mutation G 39 FNTB SNP 14 G A 64591083 64591083 Broad SERPINA5 5104 broad.mit.edu GRCh37 14 95053850 95053850 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000329597.7:c.151G>C p.Asp51His p.D51H ENST00000329597 NM_000624.5 51 Gac/Cac 0 Missense_Mutation G 45 SERPINA5 SNP 14 G C 94123603 94123603 Broad CHP1 11261 broad.mit.edu GRCh37 15 41571019 41571019 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000334660.5:c.466G>A p.Ala156Thr p.A156T ENST00000334660 NM_007236.4 156 Gca/Aca 0 Missense_Mutation G 38 RHOV SNP 15 G A 39358311 39358311 Broad C15orf38 348110 broad.mit.edu GRCh37 15 90456018 90456018 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000357484.5:c.50G>A p.Ser17Asn p.S17N ENST00000357484 NM_182616.2 17 aGc/aAc 0 Missense_Mutation C 28 C15orf38 SNP 15 C T 88257022 88257022 Broad ERCC4 2072 broad.mit.edu GRCh37 16 14029160 14029160 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000311895.7:c.1371C>T p.Asp457= p.D457= ENST00000311895 NM_005236.2 457 gaC/gaT 0 Silent C 17 ERCC4 SNP 16 C T 13936661 13936661 Broad PRKCB 5579 broad.mit.edu GRCh37 16 24166095 24166095 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000303531.7:c.1156T>A p.Cys386Ser p.C386S ENST00000303531 NM_002738.6 386 Tgc/Agc 0 Missense_Mutation T 59 PRKCB SNP 16 T A 24073596 24073596 Broad TP53 7157 broad.mit.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C G rs28934576 Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.818G>C p.Arg273Pro p.R273P ENST00000269305 NM_001126112.2 273 cGt/cCt 0 Missense_Mutation C 19 TP53 SNP 17 C G 7517845 7517845 Broad LDLRAD4 753 broad.mit.edu GRCh37 18 13645397 13645397 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000361205.4:c.662T>G p.Ile221Ser p.I221S ENST00000361205 221 aTt/aGt 0 Missense_Mutation T 52 C18orf1 SNP 18 T G 13635397 13635397 Broad CPAMD8 27151 broad.mit.edu GRCh37 19 17120120 17120120 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000443236.1:c.638A>G p.Tyr213Cys p.Y213C ENST00000443236 NM_015692.2 213 tAc/tGc 0 Missense_Mutation T 57 CPAMD8 SNP 19 T C 16981120 16981120 Broad PKP4 8502 broad.mit.edu GRCh37 2 159517858 159517858 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000389759.3:c.2107G>A p.Ala703Thr p.A703T ENST00000389759 NM_003628.3 703 Gcg/Acg 0 Missense_Mutation G 38 PKP4 SNP 2 G A 159226104 159226104 Broad CSRNP3 80034 broad.mit.edu GRCh37 2 166535514 166535514 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000314499.7:c.1009G>C p.Asp337His p.D337H ENST00000314499 NM_001172173.1 337 Gat/Cat 0 Missense_Mutation G 33 CSRNP3 SNP 2 G C 166243760 166243760 Broad FN1 2335 broad.mit.edu GRCh37 2 216235109 216235109 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000354785.4:c.6761C>G p.Thr2254Ser p.T2254S ENST00000354785 2254 aCc/aGc 0 Missense_Mutation G 44 FN1 SNP 2 G C 215943354 215943354 Broad ABCG1 9619 broad.mit.edu GRCh37 21 43702433 43702433 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000361802.2:c.638G>A p.Arg213Gln p.R213Q ENST00000361802 NM_004915.3 213 cGg/cAg 0 Missense_Mutation G 39 ABCG1 SNP 21 G A 42575502 42575502 Broad PCNT 5116 broad.mit.edu GRCh37 21 47783804 47783804 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000359568.5:c.2564A>C p.His855Pro p.H855P ENST00000359568 NM_006031.5 855 cAc/cCc 0 Missense_Mutation A 6 PCNT SNP 21 A C 46608232 46608232 Broad CECR1 51816 broad.mit.edu GRCh37 22 17684625 17684625 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000399839.1:c.581A>C p.Glu194Ala p.E194A ENST00000399839 NM_001282228.1 194 gAg/gCg 0 Missense_Mutation T 54 CECR1 SNP 22 T G 16064625 16064625 Broad SUSD5 26032 broad.mit.edu GRCh37 3 33255452 33255452 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000309558.3:c.258C>T p.Cys86= p.C86= ENST00000309558 NM_015551.1 86 tgC/tgT 0 Silent G 46 SUSD5 SNP 3 G A 33230456 33230456 Broad NISCH 11188 broad.mit.edu GRCh37 3 52526018 52526018 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000345716.4:c.4035C>G p.Leu1345= p.L1345= ENST00000345716 NM_007184.3 1345 ctC/ctG 0 Silent C 29 NISCH SNP 3 C G 52501058 52501058 Broad BBX 56987 broad.mit.edu GRCh37 3 107510094 107510094 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000325805.8:c.2301G>T p.Gly767= p.G767= ENST00000325805 767 ggG/ggT 0 Silent G 43 BBX SNP 3 G T 108992784 108992784 Broad SEC22A 26984 broad.mit.edu GRCh37 3 122943997 122943997 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000309934.4:c.394C>G p.Leu132Val p.L132V ENST00000309934 NM_012430.4 132 Ctt/Gtt 0 Missense_Mutation C 32 SEC22A SNP 3 C G 124426687 124426687 Broad KALRN 8997 broad.mit.edu GRCh37 3 124165611 124165611 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000240874.3:c.3425C>A p.Ala1142Glu p.A1142E ENST00000240874 NM_003947.4 1142 gCg/gAg 0 Missense_Mutation C 27 KALRN SNP 3 C A 125648301 125648301 Broad CHST2 9435 broad.mit.edu GRCh37 3 142840774 142840774 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000309575.3:c.1116G>A p.Ala372= p.A372= ENST00000309575 NM_004267.4 372 gcG/gcA 0 Silent G 39 CHST2 SNP 3 G A 144323464 144323464 Broad PDZD2 23037 broad.mit.edu GRCh37 5 32089619 32089619 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000438447.1:c.6065G>A p.Cys2022Tyr p.C2022Y ENST00000438447 2022 tGt/tAt 0 Missense_Mutation G 48 PDZD2 SNP 5 G A 32125376 32125376 Broad PCDHB9 56127 broad.mit.edu GRCh37 5 140567248 140567248 + non_coding_transcript_exon_variant RNA SNP C C G novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000316105.4:n.356C>G *119* ENST00000316105 0 Missense_Mutation C 28 PCDHB9 SNP 5 C G 140547432 140547432 Broad ZNF300 91975 broad.mit.edu GRCh37 5 150275377 150275377 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000446148.2:c.1472C>T p.Ser491Phe p.S491F ENST00000446148 NM_001172831.1 491 tCc/tTc 0 Missense_Mutation G 41 ZNF300 SNP 5 G A 150255570 150255570 Broad GABRA6 2559 broad.mit.edu GRCh37 5 161117296 161117296 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000274545.5:c.763G>C p.Val255Leu p.V255L ENST00000274545 255 Gtc/Ctc 0 Missense_Mutation G 36 GABRA6 SNP 5 G C 161049874 161049874 Broad GRM6 2916 broad.mit.edu GRCh37 5 178413538 178413538 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000231188.5:c.1717C>T p.Pro573Ser p.P573S ENST00000231188 NM_000843.3 573 Ccc/Tcc 0 Missense_Mutation G 43 GRM6 SNP 5 G A 178346144 178346144 Broad HIST1H2BH 8345 broad.mit.edu GRCh37 6 26252061 26252061 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000356350.2:c.183G>C p.Gly61= p.G61= ENST00000356350 NM_003524.2 61 ggG/ggC 0 Silent G 41 HIST1H2BH SNP 6 G C 26360040 26360040 Broad C6orf47 57827 broad.mit.edu GRCh37 6 31627261 31627261 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000375911.1:c.464T>A p.Leu155Ter p.L155* ENST00000375911 NM_021184.3 155 tTg/tAg 0 Nonsense_Mutation A 5 C6orf47 SNP 6 A T 31735240 31735240 Broad TULP1 7287 broad.mit.edu GRCh37 6 35471419 35471419 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000229771.6:c.1240G>C p.Gly414Arg p.G414R ENST00000229771 NM_003322.3 414 Ggc/Cgc 0 Missense_Mutation C 22 TULP1 SNP 6 C G 35579397 35579397 Broad MEP1A 4224 broad.mit.edu GRCh37 6 46761419 46761419 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000230588.4:c.111T>C p.Phe37= p.F37= ENST00000230588 NM_005588.2 37 ttT/ttC 0 Silent T 63 MEP1A SNP 6 T C 46869378 46869378 Broad FAXC 84553 broad.mit.edu GRCh37 6 99797093 99797093 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000389677.5:c.156G>C p.Gly52= p.G52= ENST00000389677 NM_032511.2 52 ggG/ggC 0 Silent C 30 C6orf168 SNP 6 C G 99903814 99903814 Broad TRAF3IP2 10758 broad.mit.edu GRCh37 6 111912676 111912676 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000368761.5:c.614A>C p.Asp205Ala p.D205A ENST00000368761 NM_001164281.2 205 gAt/gCt 0 Missense_Mutation T 50 TRAF3IP2 SNP 6 T G 112019369 112019369 Broad ENPP3 5169 broad.mit.edu GRCh37 6 132047338 132047338 + splice_region_variant,synonymous_variant Splice_Region SNP T T C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000414305.1:c.1951T>C p.Leu651= p.L651= ENST00000414305 651 Ttg/Ctg 0 Silent T 60 ENPP3 SNP 6 T C 132089031 132089031 Broad SHPRH 257218 broad.mit.edu GRCh37 6 146256203 146256204 + missense_variant Missense_Mutation DNP CC CC AT novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000367505.2:c.2829_2830delinsAT p.Asp944Tyr p.D944Y ENST00000367505 943 caGGat/caATat 0 Missense_Mutation CC 30 SHPRH DNP 6 CC AT 146297897 146297896 Broad PDE10A 10846 broad.mit.edu GRCh37 6 165843787 165843787 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000539869.2:c.791T>A p.Leu264His p.L264H ENST00000539869 NM_001130690.2 264 cTc/cAc 0 Missense_Mutation A 11 PDE10A SNP 6 A T 165763777 165763777 Broad DAGLB 221955 broad.mit.edu GRCh37 7 6456311 6456311 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000297056.6:c.1374C>T p.Ala458= p.A458= ENST00000297056 NM_139179.3 458 gcC/gcT 0 Silent G 39 DAGLB SNP 7 G A 6422836 6422836 Broad VSTM2A 222008 broad.mit.edu GRCh37 7 54617631 54617631 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000407838.3:c.402C>A p.Tyr134Ter p.Y134* ENST00000407838 NM_182546.2 134 taC/taA 0 Nonsense_Mutation C 19 VSTM2A SNP 7 C A 54585125 54585125 Broad CSMD1 64478 broad.mit.edu GRCh37 8 3076922 3076922 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000537824.1:c.4527A>G p.Glu1509= p.E1509= ENST00000537824 NM_033225.5 1509 gaA/gaG 0 Silent T 56 CSMD1 SNP 8 T C 3064329 3064329 Broad UBR5 51366 broad.mit.edu GRCh37 8 103277451 103277451 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000520539.1:c.7478A>T p.Asp2493Val p.D2493V ENST00000520539 NM_015902.5 2493 gAt/gTt 0 Missense_Mutation T 50 UBR5 SNP 8 T A 103346627 103346627 Broad EFR3A 23167 broad.mit.edu GRCh37 8 133015518 133015518 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000254624.5:c.2346G>A p.Leu782= p.L782= ENST00000254624 NM_015137.4 782 ttG/ttA 0 Silent G 47 EFR3A SNP 8 G A 133084700 133084700 Broad KCNQ3 3786 broad.mit.edu GRCh37 8 133144488 133144488 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000388996.4:c.1823C>G p.Pro608Arg p.P608R ENST00000388996 NM_004519.3 608 cCa/cGa 0 Missense_Mutation G 47 KCNQ3 SNP 8 G C 133213670 133213670 Broad AGTPBP1 23287 broad.mit.edu GRCh37 9 88247912 88247912 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000376083.3:c.1560T>A p.Leu520= p.L520= ENST00000376083 NM_015239.2 520 ctT/ctA 0 Silent A 9 AGTPBP1 SNP 9 A T 87437732 87437732 Broad MRRF 92399 broad.mit.edu GRCh37 9 125075605 125075605 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000344641.3:c.651C>G p.Asn217Lys p.N217K ENST00000344641 NM_138777.3 217 aaC/aaG 0 Missense_Mutation C 17 MRRF SNP 9 C G 124115426 124115426 Broad FAM47B 170062 broad.mit.edu GRCh37 X 34961820 34961820 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000329357.5:c.872G>A p.Arg291His p.R291H ENST00000329357 NM_152631.2 291 cGc/cAc 0 Missense_Mutation G 38 FAM47B SNP 23 G A 34871741 34871741 Broad LAS1L 81887 broad.mit.edu GRCh37 X 64738127 64738127 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown x x x ENST00000374811.3:c.1667A>G p.Glu556Gly p.E556G ENST00000374811 NM_031206.4 556 gAg/gGg 0 Missense_Mutation T 54 LAS1L SNP 23 T C 64654852 64654852 Broad L1CAM 3897 broad.mit.edu GRCh37 X 153131183 153131183 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000370060.1:c.2523C>G p.Val841= p.V841= ENST00000370060 NM_001278116.1 841 gtC/gtG 0 Silent G 45 L1CAM SNP 23 G C 152784377 152784377 Broad MMP19 4327 broad.mit.edu GRCh37 12 56234522 56234534 + frameshift_variant Frame_Shift_Del DEL CCAGCCTGCACCT CCAGCCTGCACCT - novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000322569.4:c.437_449del p.Glu146ValfsTer55 p.E146Vfs*55 ENST00000322569 NM_002429.5 146 gAGGTGCAGGCTGGt/gt 0 Frame_Shift_Del CCAGCCTGCACCT 18 MMP19 DEL 12 - CCAGCCTGCACCT 54520801 54520789 Broad SUPT16H 11198 broad.mit.edu GRCh37 14 21831173 21831197 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TGCTCAGTGAAAACTCTTACTTCTG TGCTCAGTGAAAACTCTTACTTCTG - novel Unknown TCGA-13-0905-01 TCGA-13-0905-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000216297.2:c.1507_1511+20del p.X503_splice ENST00000216297 NM_007192.3 503 0 Splice_Site_Del TGCTCAGTGAAAACTCTTACTTCTG 55 SUPT16H DEL 14 - TGCTCAGTGAAAACTCTTACTTCTG 20901037 20901013 Broad KIAA2013 90231 broad.mit.edu GRCh37 1 11983200 11983200 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000376572.3:c.1380G>A p.Gly460= p.G460= ENST00000376572 NM_138346.2 460 ggG/ggA 0 Silent C 26 KIAA2013 SNP 1 C T 11905787 11905787 Broad SORCS3 22986 broad.mit.edu GRCh37 10 106602582 106602582 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369701.3:c.660C>T p.Phe220= p.F220= ENST00000369701 NM_014978.1 220 ttC/ttT 0 Silent C 29 SORCS3 SNP 10 C T 106592572 106592572 Broad MUC5B 727897 broad.mit.edu GRCh37 11 1265831 1265831 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000529681.1:c.7721T>C p.Val2574Ala p.V2574A ENST00000529681 NM_002458.2 2574 gTc/gCc 0 Missense_Mutation T 58 MUC5B SNP 11 T C 1222407 1222407 Broad KRT72 140807 broad.mit.edu GRCh37 12 52992858 52992858 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000293745.2:c.465C>A p.Thr155= p.T155= ENST00000293745 NM_080747.2 155 acC/acA 0 Silent G 47 KRT72 SNP 12 G T 51279125 51279125 Broad NTN4 59277 broad.mit.edu GRCh37 12 96104258 96104258 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000343702.4:c.1141G>A p.Asp381Asn p.D381N ENST00000343702 NM_021229.3 381 Gac/Aac 0 Missense_Mutation C 29 NTN4 SNP 12 C T 94628389 94628389 Broad UTP14C 9724 broad.mit.edu GRCh37 13 52603442 52603442 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000521776.2:c.502G>A p.Ala168Thr p.A168T ENST00000521776 NM_021645.5 168 Gct/Act 0 Missense_Mutation G 46 UTP14C SNP 13 G A 51501443 51501443 Broad CGNL1 84952 broad.mit.edu GRCh37 15 57731032 57731032 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000281282.5:c.835C>T p.Arg279Trp p.R279W ENST00000281282 NM_032866.4 279 Cgg/Tgg 0 Missense_Mutation C 23 CGNL1 SNP 15 C T 55518324 55518324 Broad TP53 7157 broad.mit.edu GRCh37 17 7578290 7578290 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000269305.4:c.560-1G>A p.X187_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 24 TP53 SNP 17 C T 7519015 7519015 Broad POLDIP2 26073 broad.mit.edu GRCh37 17 26680733 26680733 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000540200.1:c.423C>G p.Asp141Glu p.D141E ENST00000540200 NM_015584.3 141 gaC/gaG 0 Missense_Mutation G 36 POLDIP2 SNP 17 G C 23704860 23704860 Broad FEM1A 55527 broad.mit.edu GRCh37 19 4793804 4793804 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000269856.3:c.1938C>G p.Ala646= p.A646= ENST00000269856 NM_018708.2 646 gcC/gcG 0 Silent C 22 FEM1A SNP 19 C G 4744804 4744804 Broad CCDC151 115948 broad.mit.edu GRCh37 19 11537566 11537566 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000356392.4:c.651G>T p.Gln217His p.Q217H ENST00000356392 NM_145045.4 217 caG/caT 0 Missense_Mutation C 32 CCDC151 SNP 19 C A 11398566 11398566 Broad CYP4F12 66002 broad.mit.edu GRCh37 19 15794522 15794522 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000550308.1:c.867C>G p.Asp289Glu p.D289E ENST00000550308 NM_023944.3 289 gaC/gaG 0 Missense_Mutation C 17 CYP4F12 SNP 19 C G 15655522 15655522 Broad IL36B 27177 broad.mit.edu GRCh37 2 113786566 113786566 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000259213.4:c.211C>G p.Leu71Val p.L71V ENST00000259213 NM_014438.4 71 Ctc/Gtc 0 Missense_Mutation G 33 IL1F8 SNP 2 G C 113503037 113503037 Broad GGTLC1 92086 broad.mit.edu GRCh37 20 23966531 23966531 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000335694.4:c.385G>A p.Gly129Arg p.G129R ENST00000335694 NM_178311.2 129 Ggg/Agg 0 Missense_Mutation C 23 GGTLC1 SNP 20 C T 23914531 23914531 Broad EFCAB6 64800 broad.mit.edu GRCh37 22 43995977 43995977 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000262726.7:c.2848C>T p.Gln950Ter p.Q950* ENST00000262726 NM_022785.3 950 Cag/Tag 0 Nonsense_Mutation G 46 EFCAB6 SNP 22 G A 42327310 42327310 Broad MYRIP 25924 broad.mit.edu GRCh37 3 40286041 40286041 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000302541.6:c.2205G>A p.Ala735= p.A735= ENST00000302541 NM_015460.2 735 gcG/gcA 0 Silent G 39 MYRIP SNP 3 G A 40261045 40261045 Broad CEP97 79598 broad.mit.edu GRCh37 3 101476585 101476585 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000341893.3:c.1135C>T p.Arg379Ter p.R379* ENST00000341893 379 Cga/Tga 0 Nonsense_Mutation C 31 CEP97 SNP 3 C T 102959275 102959275 Broad SI 6476 broad.mit.edu GRCh37 3 164735380 164735380 + missense_variant Missense_Mutation SNP C C A rs41273567 Unknown TCGA-24-0970-01 TCGA-24-0970-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264382.3:c.3715G>T p.Val1239Phe p.V1239F ENST00000264382 NM_001041.3 1239 Gtt/Ttt 0 Missense_Mutation C 18 SI SNP 3 C A 166218074 166218074 Broad CCDC39 339829 broad.mit.edu GRCh37 3 180349289 180349289 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000442201.2:c.1966G>C p.Glu656Gln p.E656Q ENST00000442201 NM_181426.1 656 Gag/Cag 0 Missense_Mutation C 32 CCDC39 SNP 3 C G 181831983 181831983 Broad PCDHAC1 56135 broad.mit.edu GRCh37 5 140308286 140308286 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000253807.2:c.1809G>A p.Ala603= p.A603= ENST00000253807 NM_018898.3 603 gcG/gcA 0 Silent G 40 PCDHAC1 SNP 5 G A 140288470 140288470 Broad EPHA7 2045 broad.mit.edu GRCh37 6 93974358 93974358 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369303.4:c.1696A>G p.Thr566Ala p.T566A ENST00000369303 NM_004440.3 566 Acc/Gcc 0 Missense_Mutation T 58 EPHA7 SNP 6 T C 94031079 94031079 Broad RSPH10B2 728194 broad.mit.edu GRCh37 7 6797490 6797490 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000403107.1:c.182G>A p.Arg61His p.R61H ENST00000403107 61 cGc/cAc 0 Missense_Mutation G 38 RSPH10B SNP 7 G A 6764015 6764015 Broad KIAA1324L 222223 broad.mit.edu GRCh37 7 86556219 86556219 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000450689.2:c.1103A>G p.Tyr368Cys p.Y368C ENST00000450689 NM_001142749.2 368 tAc/tGc 0 Missense_Mutation T 57 KIAA1324L SNP 7 T C 86394155 86394155 Broad ADAM22 53616 broad.mit.edu GRCh37 7 87762239 87762239 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265727.7:c.1050G>A p.Ser350= p.S350= ENST00000265727 350 tcG/tcA 0 Silent G 40 ADAM22 SNP 7 G A 87600175 87600175 Broad SMURF1 57154 broad.mit.edu GRCh37 7 98636021 98636021 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000361125.1:c.1756G>T p.Glu586Ter p.E586* ENST00000361125 NM_020429.2 586 Gaa/Taa 0 Nonsense_Mutation C 32 SMURF1 SNP 7 C A 98473957 98473957 Broad MUC17 140453 broad.mit.edu GRCh37 7 100685235 100685235 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000306151.4:c.10538G>T p.Gly3513Val p.G3513V ENST00000306151 NM_001040105.1 3513 gGt/gTt 0 Missense_Mutation G 44 MUC17 SNP 7 G T 100471955 100471955 Broad PXDNL 137902 broad.mit.edu GRCh37 8 52322088 52322088 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown x x x ENST00000356297.4:c.2096C>G p.Ser699Cys p.S699C ENST00000356297 NM_144651.4 699 tCc/tGc 0 Missense_Mutation G 41 PXDNL SNP 8 G C 52484641 52484641 Broad MUC5B 727897 broad.mit.edu GRCh37 11 1270397 1270402 + inframe_deletion In_Frame_Del DEL CCACGG CCACGG - novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000529681.1:c.12297_12302del p.Ala4100_Thr4101del p.A4100_T4101del ENST00000529681 NM_002458.2 4096 aCCACGGcc/acc 0 In_Frame_Del CCACGG 18 MUC5B DEL 11 - CCACGG 1226978 1226973 Broad LMTK3 114783 broad.mit.edu GRCh37 19 48994757 48994758 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000270238.3:c.4218dupC p.Glu1407ArgfsTer162 p.E1407Rfs*162 ENST00000270238 NM_001080434.1 1406 -/C 0 Frame_Shift_Ins - 31 LMTK3 INS 19 G - 53686570 53686569 Broad SSPO 23145 broad.mit.edu GRCh37 7 149503917 149503920 + non_coding_transcript_exon_variant RNA DEL GATA GATA - novel Unknown TCGA-24-0970-01 TCGA-24-0970-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000378016.2:n.8747_8750delTAGA *2916* ENST00000378016 0 Frame_Shift_Del GATA 41 SSPO DEL 7 - GATA 149134853 149134850 Broad RNF144A 9781 genome.wustl.edu GRCh37 2 7137070 7137070 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000320892.6:c.13A>C p.Arg5= p.R5= ENST00000320892 NM_014746.3 5 Agg/Cgg 0 Silent A 3 RNF144A SNP 2 A C 7054521 7054521 WashU ACSM4 341392 genome.wustl.edu GRCh37 12 7463142 7463142 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399422.4:c.420C>T p.Ile140= p.I140= ENST00000399422 NM_001080454.1 140 atC/atT 0 Silent C 32 ACSM4 SNP 12 C T 7354409 7354409 WashU TAS2R43 259289 genome.wustl.edu GRCh37 12 11243973 11243973 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000531678.1:c.856C>G p.Leu286Val p.L286V ENST00000531678 NM_176884.2 286 Cta/Gta 0 Missense_Mutation G 34 TAS2R43 SNP 12 C C 11135240 11135240 WashU RPL32 6161 genome.wustl.edu GRCh37 3 12880849 12880849 + stop_gained,splice_region_variant Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000429711.2:c.277A>T p.Lys93Ter p.K93* ENST00000429711 NM_000994.3 93 Aaa/Taa 0 Nonsense_Mutation T 63 RPL32 SNP 3 T A 12855849 12855849 WashU BRD4 23476 genome.wustl.edu GRCh37 19 15379765 15379765 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263377.2:c.374G>A p.Cys125Tyr p.C125Y ENST00000263377 NM_058243.2 125 tGt/tAt 0 Missense_Mutation C 17 BRD4 SNP 19 C T 15240765 15240765 WashU TUBA3C 7278 genome.wustl.edu GRCh37 13 19751364 19751364 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400113.3:c.759G>A p.Thr253= p.T253= ENST00000400113 NM_006001.2 253 acG/acA 0 Silent C 23 TUBA3C SNP 13 T T 18649364 18649364 WashU SLC17A6 57084 genome.wustl.edu GRCh37 11 22397548 22397548 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263160.3:c.1195C>A p.Leu399Met p.L399M ENST00000263160 NM_020346.2 399 Ctg/Atg 0 Missense_Mutation C 20 SLC17A6 SNP 11 C A 22354124 22354124 WashU COL16A1 1307 genome.wustl.edu GRCh37 1 32146505 32146505 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373672.3:c.2610+1G>A p.X870_splice ENST00000373672 NM_001856.3 0 Splice_Site_SNP C 18 COL16A1 SNP 1 C T 31919092 31919092 WashU NCOA6 23054 genome.wustl.edu GRCh37 20 33328652 33328652 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374796.2:c.5408C>A p.Ser1803Tyr p.S1803Y ENST00000374796 1803 tCc/tAc 0 Missense_Mutation G 41 NCOA6 SNP 20 G T 32792313 32792313 WashU IGHV3OR16-8 genome.wustl.edu GRCh37 16 33020848 33020848 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000565407.2:c.256C>T p.Arg86Ter p.R86* ENST00000565407 86 Cga/Tga 0 Nonsense_Mutation C 23 ENSG00000214613 SNP 16 C T 32928349 32928349 WashU ZNF770 54989 genome.wustl.edu GRCh37 15 35274048 35274048 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356321.4:c.1588C>T p.Pro530Ser p.P530S ENST00000356321 NM_014106.3 530 Cct/Tct 0 Missense_Mutation G 41 ZNF770 SNP 15 G A 33061340 33061340 WashU ASH2L 9070 genome.wustl.edu GRCh37 8 37964573 37964573 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343823.6:c.290C>G p.Thr97Ser p.T97S ENST00000343823 NM_004674.4 97 aCt/aGt 0 Missense_Mutation C 20 ASH2L SNP 8 C G 38083730 38083730 WashU KIRREL2 84063 genome.wustl.edu GRCh37 19 36351230 36351230 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360202.5:c.705A>G p.Pro235= p.P235= ENST00000360202 NM_032123.5 235 ccA/ccG 0 Silent A 6 KIRREL2 SNP 19 A G 41043070 41043070 WashU ZNF852 285346 genome.wustl.edu GRCh37 3 44541190 44541190 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000436261.1:c.1079G>A p.Cys360Tyr p.C360Y ENST00000436261 NM_001287349.1 360 tGt/tAt 0 Missense_Mutation C 17 LOC285346 SNP 3 C T 44516194 44516194 WashU KIF15 56992 genome.wustl.edu GRCh37 3 44867872 44867872 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326047.4:c.2706G>C p.Leu902Phe p.L902F ENST00000326047 NM_020242.2 902 ttG/ttC 0 Missense_Mutation G 45 KIF15 SNP 3 G C 44842876 44842876 WashU CYP2F1 1572 genome.wustl.edu GRCh37 19 41627882 41627882 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000331105.2:c.666C>T p.Ser222= p.S222= ENST00000331105 NM_000774.3 222 agC/agT 0 Silent C 26 CYP2F1 SNP 19 C T 46319722 46319722 WashU LURAP1 541468 genome.wustl.edu GRCh37 1 46669204 46669204 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371980.3:c.106G>C p.Glu36Gln p.E36Q ENST00000371980 NM_001013615.2 36 Gag/Cag 0 Missense_Mutation G 45 C1orf190 SNP 1 G C 46441791 46441791 WashU OR4C5 79346 genome.wustl.edu GRCh37 11 48387490 48387490 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G G A G A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319813.3:c.528C>T p.His176= p.H176= ENST00000319813 176 caC/caT 0 Silent G 40 OR4C5 SNP 11 G A 48344066 48344066 WashU ATRIP 84126 genome.wustl.edu GRCh37 3 48502013 48502013 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000320211.3:c.1560A>G p.Gly520= p.G520= ENST00000320211 NM_130384.2 520 ggA/ggG 0 Silent A 11 ATRIP SNP 3 A G 48477017 48477017 WashU FAF1 11124 genome.wustl.edu GRCh37 1 50941337 50941337 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396153.2:c.1668C>G p.Ser556= p.S556= ENST00000396153 NM_007051.2 556 tcC/tcG 0 Silent G 35 FAF1 SNP 1 G C 50713925 50713925 WashU NISCH 11188 genome.wustl.edu GRCh37 3 52522321 52522321 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000345716.4:c.2813G>A p.Arg938His p.R938H ENST00000345716 NM_007184.3 938 cGc/cAc 0 Missense_Mutation G 38 NISCH SNP 3 G A 52497361 52497361 WashU MAGEH1 28986 genome.wustl.edu GRCh37 X 55479307 55479307 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342972.1:c.500C>T p.Ala167Val p.A167V ENST00000342972 NM_014061.3 167 gCa/gTa 0 Missense_Mutation C 25 MAGEH1 SNP 23 C T 55496032 55496032 WashU MYH14 79784 genome.wustl.edu GRCh37 19 50805001 50805001 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000601313.1:c.5553G>T p.Gln1851His p.Q1851H ENST00000601313 NM_001145809.1 1851 caG/caT 0 Missense_Mutation G 33 MYH14 SNP 19 T T 55496813 55496813 WashU OR5AS1 219447 genome.wustl.edu GRCh37 11 55798688 55798688 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313555.1:c.794G>C p.Ser265Thr p.S265T ENST00000313555 NM_001001921.1 265 aGc/aCc 0 Missense_Mutation G 34 OR5AS1 SNP 11 G C 55555264 55555264 WashU OR5B2 390190 genome.wustl.edu GRCh37 11 58190045 58190045 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302581.2:c.690G>A p.Lys230= p.K230= ENST00000302581 NM_001005566.2 230 aaG/aaA 0 Silent C 24 OR5B2 SNP 11 C T 57946621 57946621 WashU ABHD6 57406 genome.wustl.edu GRCh37 3 58279479 58279479 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000478253.1:c.1001A>G p.Lys334Arg p.K334R ENST00000478253 334 aAg/aGg 0 Missense_Mutation A 3 ABHD6 SNP 3 A G 58254519 58254519 WashU PGM1 5236 genome.wustl.edu GRCh37 1 64102039 64102039 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371083.4:c.1062C>T p.Pro354= p.P354= ENST00000371083 NM_001172818.1 354 ccC/ccT 0 Silent C 21 PGM1 SNP 1 C T 63874627 63874627 WashU NLGN3 54413 genome.wustl.edu GRCh37 X 70387453 70387453 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358741.3:c.1506C>G p.Tyr502Ter p.Y502* ENST00000358741 NM_181303.1 502 taC/taG 0 Nonsense_Mutation C 20 NLGN3 SNP 23 C G 70304178 70304178 WashU SLCO5A1 81796 genome.wustl.edu GRCh37 8 70673987 70673987 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260126.4:c.1031T>C p.Ile344Thr p.I344T ENST00000260126 NM_030958.2 344 aTt/aCt 0 Missense_Mutation A 4 SLCO5A1 SNP 8 A G 70836541 70836541 WashU ODAM 54959 genome.wustl.edu GRCh37 4 71066250 71066250 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396094.2:c.460T>G p.Trp154Gly p.W154G ENST00000396094 NM_017855.3 154 Tgg/Ggg 0 Missense_Mutation T 55 ODAM SNP 4 T G 71100839 71100839 WashU PALD1 27143 genome.wustl.edu GRCh37 10 72291152 72291152 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263563.6:c.575T>A p.Leu192His p.L192H ENST00000263563 NM_014431.2 192 cTc/cAc 0 Missense_Mutation T 54 KIAA1274 SNP 10 T A 71961158 71961158 WashU RNF169 254225 genome.wustl.edu GRCh37 11 74546864 74546864 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299563.4:c.1216A>G p.Ile406Val p.I406V ENST00000299563 NM_001098638.1 406 Atc/Gtc 0 Missense_Mutation A 8 RNF169 SNP 11 A G 74224512 74224512 WashU BAHCC1 57597 genome.wustl.edu GRCh37 17 79410256 79410256 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G A A G A Unknown Valid LOH 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307745.7:c.1881G>A p.Pro627= p.P627= ENST00000307745 627 ccG/ccA 0 Silent G 39 BAHCC1 SNP 17 A A 77024851 77024851 WashU NOX4 50507 genome.wustl.edu GRCh37 11 89223629 89223629 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263317.4:c.150G>T p.Leu50Phe p.L50F ENST00000263317 50 ttG/ttT 0 Missense_Mutation C 21 NOX4 SNP 11 C A 88863277 88863277 WashU GPR98 84059 genome.wustl.edu GRCh37 5 89925239 89925239 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405460.2:c.1722C>G p.Ile574Met p.I574M ENST00000405460 NM_032119.3 574 atC/atG 0 Missense_Mutation C 32 GPR98 SNP 5 C G 89960995 89960995 WashU FGD6 55785 genome.wustl.edu GRCh37 12 95478360 95478360 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343958.4:c.4170G>C p.Glu1390Asp p.E1390D ENST00000343958 NM_018351.3 1390 gaG/gaC 0 Missense_Mutation C 32 FGD6 SNP 12 C G 94002491 94002491 WashU NT5DC3 51559 genome.wustl.edu GRCh37 12 104208741 104208741 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392876.3:c.367C>T p.Arg123Trp p.R123W ENST00000392876 NM_001031701.2 123 Cgg/Tgg 0 Missense_Mutation G 40 NT5DC3 SNP 12 G A 102732871 102732871 WashU RSPO2 340419 genome.wustl.edu GRCh37 8 108970482 108970482 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276659.5:c.442G>A p.Gly148Ser p.G148S ENST00000276659 NM_178565.4 148 Ggt/Agt 0 Missense_Mutation C 21 RSPO2 SNP 8 C T 109039658 109039658 WashU BAG3 9531 genome.wustl.edu GRCh37 10 121436366 121436366 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369085.3:c.1300G>A p.Gly434Arg p.G434R ENST00000369085 NM_004281.3 434 Ggg/Agg 0 Missense_Mutation G 43 BAG3 SNP 10 G A 121426356 121426356 WashU DTX3L 151636 genome.wustl.edu GRCh37 3 122288092 122288092 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296161.4:c.1156A>C p.Lys386Gln p.K386Q ENST00000296161 NM_138287.3 386 Aaa/Caa 0 Missense_Mutation A 13 DTX3L SNP 3 A C 123770782 123770782 WashU GPR133 283383 genome.wustl.edu GRCh37 12 131488816 131488816 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261654.5:c.1230C>A p.Ile410= p.I410= ENST00000261654 NM_198827.3 410 atC/atA 0 Silent C 30 GPR133 SNP 12 A A 130054769 130054769 WashU SLC18B1 116843 genome.wustl.edu GRCh37 6 133100448 133100448 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000275227.4:c.754G>C p.Gly252Arg p.G252R ENST00000275227 NM_052831.2 252 Ggc/Cgc 0 Missense_Mutation C 21 C6orf192 SNP 6 C G 133142141 133142141 WashU FAM135B 51059 genome.wustl.edu GRCh37 8 139164044 139164044 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395297.1:c.2674A>G p.Arg892Gly p.R892G ENST00000395297 NM_015912.3 892 Agg/Ggg 0 Missense_Mutation T 55 FAM135B SNP 8 T C 139233226 139233226 WashU SLC27A3 11000 genome.wustl.edu GRCh37 1 153750720 153750720 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368661.3:c.1386C>A p.Arg462= p.R462= ENST00000368661 NM_024330.1 462 cgC/cgA 0 Silent C 28 SLC27A3 SNP 1 C A 152017344 152017344 WashU ITK 3702 genome.wustl.edu GRCh37 5 156638376 156638376 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422843.3:c.322G>C p.Glu108Gln p.E108Q ENST00000422843 NM_005546.3 108 Gaa/Caa 0 Missense_Mutation G 33 ITK SNP 5 G C 156570954 156570954 WashU GABRA1 2554 genome.wustl.edu GRCh37 5 161318058 161318058 + splice_donor_variant Splice_Site SNP T T A novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000428797.2:c.856+2T>A p.X286_splice ENST00000428797 NM_001127643.1 0 Splice_Site_SNP T 57 GABRA1 SNP 5 T A 161250636 161250636 WashU SLIT3 6586 genome.wustl.edu GRCh37 5 168212925 168212925 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000519560.1:c.1138T>A p.Ser380Thr p.S380T ENST00000519560 NM_003062.3 380 Tcc/Acc 0 Missense_Mutation A 10 SLIT3 SNP 5 A T 168145503 168145503 WashU RNF130 55819 genome.wustl.edu GRCh37 5 179405232 179405232 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000521389.1:c.819G>C p.Gln273His p.Q273H ENST00000521389 NM_018434.5 273 caG/caC 0 Missense_Mutation C 32 RNF130 SNP 5 C G 179337838 179337838 WashU PPP1R15B 84919 genome.wustl.edu GRCh37 1 204380342 204380342 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367188.4:c.198G>T p.Leu66= p.L66= ENST00000367188 NM_032833.3 66 ctG/ctT 0 Silent C 25 PPP1R15B SNP 1 C A 202646965 202646965 WashU NDUFS1 4719 genome.wustl.edu GRCh37 2 207003288 207003288 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000455934.2:c.1355T>G p.Leu452Arg p.L452R ENST00000455934 NM_001199984.1 452 cTc/cGc 0 Missense_Mutation A 11 NDUFS1 SNP 2 A C 206711533 206711533 WashU OR2L8 391190 genome.wustl.edu GRCh37 1 248112938 248112938 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357191.3:c.779G>C p.Arg260Pro p.R260P ENST00000357191 NM_001001963.1 260 cGt/cCt 0 Missense_Mutation G 40 OR2L8 SNP 1 G C 246179561 246179561 WashU CIC 23152 genome.wustl.edu GRCh37 19 42796462 42796474 + frameshift_variant Frame_Shift_Del DEL GTGCAGTCAGCGG GTGCAGTCAGCGG - novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 GTGCAGTCAGCGG GTGCAGTCAGCGG GTGCAGTCAGCGG - GTGCAGTCAGCGG GTGCAGTCAGCGG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000575354.2:c.3020_3032del p.Val1007AlafsTer28 p.V1007Afs*28 ENST00000575354 NM_015125.3 1007 GTGCAGTCAGCGGgc/gc 0 Frame_Shift_Del GTGCAGTCAGCGG 48 CIC DEL 19 GTGCAGTCAGCGG - 47488314 47488302 WashU MCF2L2 23101 genome.wustl.edu GRCh37 3 182933853 182933862 + frameshift_variant Frame_Shift_Del DEL TGCTGAATCT TGCTGAATCT - novel Unknown TCGA-13-0897-01 TCGA-13-0897-10 TGCTGAATCT TGCTGAATCT TGCTGAATCT - TGCTGAATCT TGCTGAATCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328913.3:c.2391_2400del p.Lys797AsnfsTer12 p.K797Nfs*12 ENST00000328913 NM_015078.2 797 aaAGATTCAGCA/aa 0 Frame_Shift_Del TGCTGAATCT 51 MCF2L2 DEL 3 TGCTGAATCT - 184416556 184416547 WashU CROCC 9696 genome.wustl.edu GRCh37 1 17295772 17295772 + synonymous_variant Silent SNP G G A Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000375541.5:c.5238G>A p.Arg1746= p.R1746= ENST00000375541 NM_014675.3 1746 cgG/cgA 0 Silent G 43 CROCC SNP 1 G A 17168359 17168359 WashU JARID2 3720 genome.wustl.edu GRCh37 6 15487600 15487600 + stop_gained Nonsense_Mutation SNP G G T Unknown TCGA-13-0897-01 TCGA-13-0897-10 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000341776.2:c.733G>T p.Glu245Ter p.E245* ENST00000341776 NM_004973.3 245 Gag/Tag 0 Nonsense_Mutation G 33 JARID2 SNP 6 G T 15595579 15595579 WashU MFAP3L 9848 genome.wustl.edu GRCh37 4 170926925 170926929 + frameshift_variant Frame_Shift_Del DEL GTGCT GTGCT - Unknown TCGA-13-0897-01 TCGA-13-0897-10 GTGCT GTGCT GTGCT - GTGCT GTGCT Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000361618.3:c.100_104del p.Ser34PhefsTer5 p.S34Ffs*5 ENST00000361618 NM_021647.6 34 AGCACt/t 0 Frame_Shift_Del GTGCT 36 MFAP3L DEL 4 GTGCT - 171163504 171163500 WashU MFAP3L 9848 genome.wustl.edu GRCh37 4 170926935 170926942 + frameshift_variant Frame_Shift_Del DEL TCACACTC TCACACTC - Unknown TCGA-13-0897-01 TCGA-13-0897-10 TCACACTC TCACACTC TCACACTC - TCACACTC TCACACTC Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000361618.3:c.87_94del p.Lys29AsnfsTer2 p.K29Nfs*2 ENST00000361618 NM_021647.6 29 aaGAGTGTGAct/aact 0 Frame_Shift_Del TCACACTC 58 MFAP3L DEL 4 TCACACTC - 171163517 171163510 WashU MFAP3L 9848 genome.wustl.edu GRCh37 4 170926946 170926950 + frameshift_variant Frame_Shift_Del DEL GCGGT GCGGT - Unknown TCGA-13-0897-01 TCGA-13-0897-10 GCGGT GCGGT GCGGT - GCGGT GCGGT Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000361618.3:c.79_83del p.Thr27Ter p.T27* ENST00000361618 NM_021647.6 27 ACCGCt/t 0 Frame_Shift_Del GCGGT 34 MFAP3L DEL 4 GCGGT - 171163525 171163521 WashU DLGAP3 58512 broad.mit.edu GRCh37 1 35334650 35334650 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000373347.1:c.2041G>A p.Val681Met p.V681M ENST00000373347 681 Gtg/Atg 0 Missense_Mutation C 19 DLGAP3 SNP 1 C T 35107237 35107237 Broad PROX1 5629 broad.mit.edu GRCh37 1 214170265 214170265 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000366958.4:c.387C>T p.Cys129= p.C129= ENST00000366958 NM_001270616.1 129 tgC/tgT 0 Silent C 25 PROX1 SNP 1 C T 212236888 212236888 Broad CCNJ 54619 broad.mit.edu GRCh37 10 97817960 97817960 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000465148.2:c.1114G>A p.Glu372Lys p.E372K ENST00000465148 372 Gaa/Aaa 0 Missense_Mutation G 45 CCNJ SNP 10 G A 97807950 97807950 Broad DNMBP 23268 broad.mit.edu GRCh37 10 101646214 101646214 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000324109.4:c.3461G>A p.Arg1154Gln p.R1154Q ENST00000324109 NM_015221.2 1154 cGg/cAg 0 Missense_Mutation C 23 DNMBP SNP 10 C T 101636204 101636204 Broad ROBO3 64221 broad.mit.edu GRCh37 11 124747920 124747920 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000397801.1:c.3074C>T p.Ala1025Val p.A1025V ENST00000397801 NM_022370.3 1025 gCg/gTg 0 Missense_Mutation C 27 ROBO3 SNP 11 C T 124253130 124253130 Broad ANKLE2 23141 broad.mit.edu GRCh37 12 133304644 133304644 + synonymous_variant Silent SNP C C A novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000357997.5:c.2589G>T p.Leu863= p.L863= ENST00000357997 NM_015114.1 863 ctG/ctT 0 Silent C 17 ANKLE2 SNP 12 C A 131814717 131814717 Broad ARHGEF40 55701 broad.mit.edu GRCh37 14 21550254 21550254 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000298694.4:c.3227G>T p.Arg1076Leu p.R1076L ENST00000298694 NM_001278529.1 1076 cGg/cTg 0 Missense_Mutation G 39 FLJ10357 SNP 14 G T 20620094 20620094 Broad MTMR10 54893 broad.mit.edu GRCh37 15 31283702 31283702 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000435680.1:c.8C>T p.Ser3Phe p.S3F ENST00000435680 NM_017762.2 3 tCc/tTc 0 Missense_Mutation G 41 MTMR10 SNP 15 G A 29070994 29070994 Broad TBC1D2B 23102 broad.mit.edu GRCh37 15 78290635 78290635 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000300584.3:c.2759G>A p.Arg920Gln p.R920Q ENST00000300584 NM_144572.1 920 cGa/cAa 0 Missense_Mutation C 31 TBC1D2B SNP 15 C T 76077690 76077690 Broad USP31 57478 broad.mit.edu GRCh37 16 23079555 23079555 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000219689.7:c.3871G>A p.Glu1291Lys p.E1291K ENST00000219689 NM_020718.3 1291 Gag/Aag 0 Missense_Mutation C 32 USP31 SNP 16 C T 22987056 22987056 Broad VMO1 284013 broad.mit.edu GRCh37 17 4689599 4689599 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000328739.5:c.49C>T p.Arg17Trp p.R17W ENST00000328739 NM_182566.2 17 Cgg/Tgg 0 Missense_Mutation G 38 VMO1 SNP 17 G A 4636339 4636339 Broad TBXA2R 6915 broad.mit.edu GRCh37 19 3595862 3595863 + missense_variant Missense_Mutation DNP TG TG CA novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000411851.3:c.855_856inv p.Thr286Ala p.T286A ENST00000411851 285 acCAcg/acTGcg 0 Missense_Mutation TG 59 TBXA2R DNP 19 TG CA 3546863 3546862 Broad SMARCA4 6597 broad.mit.edu GRCh37 19 11134230 11134230 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000344626.4:c.2896C>T p.Arg966Trp p.R966W ENST00000344626 NM_003072.3 966 Cgg/Tgg 0 Missense_Mutation C 23 SMARCA4 SNP 19 C T 10995230 10995230 Broad ZNF714 148206 broad.mit.edu GRCh37 19 21300346 21300346 + synonymous_variant Silent SNP T T A novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000596143.1:c.876T>A p.Ala292= p.A292= ENST00000596143 NM_182515.3 292 gcT/gcA 0 Silent T 56 ZNF714 SNP 19 T A 21092186 21092186 Broad PRX 57716 broad.mit.edu GRCh37 19 40902612 40902612 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000324001.7:c.1647G>A p.Pro549= p.P549= ENST00000324001 NM_181882.2 549 ccG/ccA 0 Silent C 31 PRX SNP 19 C T 45594452 45594452 Broad SRD5A2 6716 broad.mit.edu GRCh37 2 31758813 31758813 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000405650.1:n.471A>G *157* ENST00000405650 0 Missense_Mutation T 52 SRD5A2 SNP 2 T C 31612317 31612317 Broad HDAC4 9759 broad.mit.edu GRCh37 2 240111709 240111710 + missense_variant Missense_Mutation DNP CA CA AT novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000345617.3:c.158_159delinsAT p.Leu53His p.L53H ENST00000345617 NM_006037.3 53 cTG/cAT 0 Missense_Mutation CA 21 HDAC4 DNP 2 CA AT 239776647 239776646 Broad DCUN1D4 23142 broad.mit.edu GRCh37 4 52743949 52743949 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000334635.5:c.272C>T p.Ser91Leu p.S91L ENST00000334635 NM_001040402.1 91 tCg/tTg 0 Missense_Mutation C 31 DCUN1D4 SNP 4 C T 52438706 52438706 Broad TNRC18 84629 broad.mit.edu GRCh37 7 5352303 5352304 + missense_variant Missense_Mutation DNP TT TT CA novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000430969.1:c.8218_8219delinsTG p.Lys2740Trp p.K2740W ENST00000430969 NM_001080495.2 2740 AAg/TGg 0 Missense_Mutation TT 56 TNRC18B DNP 7 TT CA 5318830 5318829 Broad TNS3 64759 broad.mit.edu GRCh37 7 47317781 47317781 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000398879.1:c.4231A>G p.Thr1411Ala p.T1411A ENST00000398879 1411 Acg/Gcg 0 Missense_Mutation T 59 TNS3 SNP 7 T C 47284306 47284306 Broad XKR6 286046 broad.mit.edu GRCh37 8 10755661 10755661 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000416569.2:c.1727G>A p.Arg576His p.R576H ENST00000416569 NM_173683.3 576 cGt/cAt 0 Missense_Mutation C 19 XKR6 SNP 8 C T 10793071 10793071 Broad IKBKB 3551 broad.mit.edu GRCh37 8 42179941 42179941 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000520810.1:c.1915G>A p.Asp639Asn p.D639N ENST00000520810 NM_001556.2 639 Gat/Aat 0 Missense_Mutation G 41 IKBKB SNP 8 G A 42299098 42299098 Broad PKHD1L1 93035 broad.mit.edu GRCh37 8 110455224 110455224 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000378402.5:c.4443C>T p.Ser1481= p.S1481= ENST00000378402 NM_177531.4 1481 agC/agT 0 Silent C 27 PKHD1L1 SNP 8 C T 110524400 110524400 Broad REXO4 57109 broad.mit.edu GRCh37 9 136282962 136282962 + start_lost Translation_Start_Site SNP C C G novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000371942.3:c.3G>C p.Met1? p.M1? ENST00000371942 NM_001279350.1 1 atG/atC 0 Missense_Mutation C 21 REXO4 SNP 9 C G 135272783 135272783 Broad QSOX2 169714 broad.mit.edu GRCh37 9 139137432 139137432 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown x x x ENST00000358701.5:c.218G>A p.Gly73Glu p.G73E ENST00000358701 NM_181701.3 73 gGg/gAg 0 Missense_Mutation C 22 QSOX2 SNP 9 C T 138277253 138277253 Broad TP53 7157 broad.mit.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C T rs28934576 Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.818G>A p.Arg273His p.R273H ENST00000269305 NM_001126112.2 273 cGt/cAt 0 Missense_Mutation C 19 TP53 SNP 17 C T 7517845 7517845 Broad TP53 7157 broad.mit.edu GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T rs11540652 byHapMap TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 Missense_Mutation C 23 TP53 SNP 17 C T 7518263 7518263 Broad PDE4DIP 9659 broad.mit.edu GRCh37 1 144882581 144882582 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000369356.4:c.3437_3438insC p.Glu1147Ter p.E1147* ENST00000369356 NM_014644.5 1146 att/atCt 0 Frame_Shift_Ins - 5 PDE4DIP INS 1 G - 143593939 143593938 Broad NBPF14 25832 broad.mit.edu GRCh37 1 148015629 148015633 + frameshift_variant Frame_Shift_Del DEL CATGT CATGT - novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000310701.10:c.1015_1019del p.Asn339ArgfsTer2 p.N339Rfs*2 ENST00000310701 339 aACATG/a 0 Frame_Shift_Del CATGT 21 NBPF14 DEL 1 - CATGT 146482257 146482253 Broad KAT2A 2648 broad.mit.edu GRCh37 17 40266104 40266126 + splice_acceptor_variant,intron_variant Splice_Site DEL TGGAGAGAAGAGCCGGGCTGGGG TGGAGAGAAGAGCCGGGCTGGGG - novel Unknown TCGA-10-0934-01 TCGA-10-0934-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000225916.5:c.2236-24_2236-2del p.X746_splice ENST00000225916 NM_021078.2 0 Splice_Site_Del TGGAGAGAAGAGCCGGGCTGGGG 55 KAT2A DEL 17 - TGGAGAGAAGAGCCGGGCTGGGG 37519652 37519630 Broad ADAMTSL3 57188 hgsc.bcm.edu GRCh37 15 84651581 84651581 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000286744.5:c.3201A>T p.Ala1067= p.A1067= ENST00000286744 NM_207517.2 1067 gcA/gcT 0 Silent A 7 ADAMTSL3 SNP 15 A T 82442585 82442585 Baylor C1orf43 25912 hgsc.bcm.edu GRCh37 1 154185044 154185044 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368521.5:c.397C>T p.Arg133Cys p.R133C ENST00000368521 NM_001098616.1 133 Cgc/Tgc 0 Missense_Mutation G 39 C1orf43 SNP 1 G A 152451668 152451668 Baylor GABBR2 9568 hgsc.bcm.edu GRCh37 9 101216465 101216467 + inframe_deletion In_Frame_Del DEL TTG TTG - novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 TTG TTG . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000259455.2:c.1032_1034del p.Asn344del p.N344del ENST00000259455 NM_005458.7 344 aaCAAg/aag 0 In_Frame_Del TTG 56 GABBR2 DEL 9 TTG - 100256288 100256286 Baylor GLI3 2737 hgsc.bcm.edu GRCh37 7 42064966 42064966 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000395925.3:c.1253C>T p.Thr418Met p.T418M ENST00000395925 NM_000168.5 418 aCg/aTg 0 Missense_Mutation G 40 GLI3 SNP 7 G A 42031491 42031491 Baylor HIST1H4E 8367 hgsc.bcm.edu GRCh37 6 26205070 26205070 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000360441.4:c.198G>C p.Val66= p.V66= ENST00000360441 NM_003545.3 66 gtG/gtC 0 Silent G 45 HIST1H4E SNP 6 G C 26313049 26313049 Baylor IL19 29949 hgsc.bcm.edu GRCh37 1 207015914 207015914 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000340758.2:c.595G>A p.Asp199Asn p.D199N ENST00000340758 NM_153758.2 199 Gac/Aac 0 Missense_Mutation G 37 IL19 SNP 1 G A 205082537 205082537 Baylor LRRC27 80313 hgsc.bcm.edu GRCh37 10 134175056 134175056 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368614.3:c.1266G>A p.Ser422= p.S422= ENST00000368614 NM_030626.2 422 tcG/tcA 0 Silent G 38 LRRC27 SNP 10 G A 134025046 134025046 Baylor MUC15 143662 hgsc.bcm.edu GRCh37 11 26584679 26584679 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000436318.2:c.909C>T p.Asp303= p.D303= ENST00000436318 303 gaC/gaT 0 Silent G 40 MUC15 SNP 11 G A 26541255 26541255 Baylor MYH4 4622 hgsc.bcm.edu GRCh37 17 10358096 10358096 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000255381.2:c.2467C>T p.Arg823Cys p.R823C ENST00000255381 NM_017533.2 823 Cgt/Tgt 0 Missense_Mutation G 39 MYH4 SNP 17 G A 10298821 10298821 Baylor MYO1A 4640 hgsc.bcm.edu GRCh37 12 57430806 57430806 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000442789.2:c.2125C>T p.Arg709Ter p.R709* ENST00000442789 NM_001256041.1 709 Cga/Tga 0 Nonsense_Mutation G 39 MYO1A SNP 12 G A 55717073 55717073 Baylor NDST2 8509 hgsc.bcm.edu GRCh37 10 75563695 75563695 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000309979.6:c.1923G>T p.Glu641Asp p.E641D ENST00000309979 641 gaG/gaT 0 Missense_Mutation C 32 NDST2 SNP 10 C A 75233701 75233701 Baylor NOMO2 283820 hgsc.bcm.edu GRCh37 16 18520493 18520493 + synonymous_variant Silent SNP A A G rs8921 Unknown TCGA-24-1558-01 TCGA-24-1558-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381474.3:c.3318T>C p.Asp1106= p.D1106= ENST00000381474 NM_001004060.1 1106 gaT/gaC 0 Silent A 8 NOMO2 SNP 16 A G 18427994 18427994 Baylor NOMO2 283820 hgsc.bcm.edu GRCh37 16 18528532 18528532 + synonymous_variant Silent SNP G G T rs393246 Unknown TCGA-24-1558-01 TCGA-24-1558-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381474.3:c.2736C>A p.Gly912= p.G912= ENST00000381474 NM_001004060.1 912 ggC/ggA 0 Silent G 46 NOMO2 SNP 16 G T 18436033 18436033 Baylor NOMO2 283820 hgsc.bcm.edu GRCh37 16 18549971 18549971 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381474.3:c.1097G>A p.Arg366His p.R366H ENST00000381474 NM_001004060.1 366 cGc/cAc 0 Missense_Mutation C 27 NOMO2 SNP 16 C T 18457472 18457472 Baylor NOTCH2 4853 hgsc.bcm.edu GRCh37 1 120461166 120461166 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000256646.2:c.5792G>A p.Arg1931His p.R1931H ENST00000256646 NM_024408.3 1931 cGc/cAc 0 Missense_Mutation C 27 NOTCH2 SNP 1 C T 120262689 120262689 Baylor NTRK1 4914 hgsc.bcm.edu GRCh37 1 156851381 156851381 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000524377.1:c.2338C>G p.Arg780Gly p.R780G ENST00000524377 NM_002529.3 780 Cgg/Ggg 0 Missense_Mutation C 23 NTRK1 SNP 1 C G 155118005 155118005 Baylor NTRK3 4916 hgsc.bcm.edu GRCh37 15 88423602 88423602 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000360948.2:c.2233C>T p.Arg745Trp p.R745W ENST00000360948 NM_001012338.2 745 Cgg/Tgg 0 Missense_Mutation G 39 NTRK3 SNP 15 G A 86224606 86224606 Baylor NUP210 23225 hgsc.bcm.edu GRCh37 3 13364842 13364842 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000254508.5:c.4735G>T p.Val1579Phe p.V1579F ENST00000254508 NM_024923.3 1579 Gtt/Ttt 0 Missense_Mutation C 17 NUP210 SNP 3 C A 13339842 13339842 Baylor OR5B2 390190 hgsc.bcm.edu GRCh37 11 58189993 58189993 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000302581.2:c.742G>A p.Val248Ile p.V248I ENST00000302581 NM_001005566.2 248 Gtc/Atc 0 Missense_Mutation C 19 OR5B2 SNP 11 C T 57946569 57946569 Baylor POLD4 57804 hgsc.bcm.edu GRCh37 11 67120856 67120856 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000312419.3:c.15G>A p.Arg5= p.R5= ENST00000312419 NM_021173.4 5 cgG/cgA 0 Silent C 26 POLD4 SNP 11 C T 66877432 66877432 Baylor PRRX1 5396 hgsc.bcm.edu GRCh37 1 170695481 170695481 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000239461.6:c.538G>A p.Val180Ile p.V180I ENST00000239461 NM_022716.2 180 Gta/Ata 0 Missense_Mutation G 40 PRRX1 SNP 1 G A 168962105 168962105 Baylor SLC4A7 9497 hgsc.bcm.edu GRCh37 3 27490241 27490241 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295736.5:c.163A>T p.Ser55Cys p.S55C ENST00000295736 NM_003615.4 55 Agt/Tgt 0 Missense_Mutation T 54 SLC4A7 SNP 3 T A 27465245 27465245 Baylor SLCO1C1 53919 hgsc.bcm.edu GRCh37 12 20868200 20868200 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381552.1:c.657C>A p.Asp219Glu p.D219E ENST00000381552 219 gaC/gaA 0 Missense_Mutation C 17 SLCO1C1 SNP 12 C A 20759467 20759467 Baylor SMARCA2 6595 hgsc.bcm.edu GRCh37 9 2054620 2054620 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000382203.1:c.1070G>T p.Arg357Met p.R357M ENST00000382203 357 aGg/aTg 0 Missense_Mutation G 35 SMARCA2 SNP 9 G T 2044620 2044620 Baylor TDG 6996 hgsc.bcm.edu GRCh37 12 104373728 104373729 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000392872.3:c.292dup p.Ile98AsnfsTer6 p.I98Nfs*6 ENST00000392872 NM_003211.4 96 gaa/gAaa 0 Frame_Shift_Ins - 33 TDG INS 12 - A 102897859 102897858 Baylor TKT 7086 hgsc.bcm.edu GRCh37 3 53263350 53263350 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1558-01 TCGA-24-1558-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000423516.1:c.1234G>A p.Ala412Thr p.A412T ENST00000423516 NM_001258028.1 412 Gcc/Acc 0 Missense_Mutation C 27 TKT SNP 3 C T 53238390 53238390 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C T rs28934576 Unknown TCGA-24-1558-01 TCGA-24-1558-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.818G>A p.Arg273His p.R273H ENST00000269305 NM_001126112.2 273 cGt/cAt 0 Missense_Mutation C 19 TP53 SNP 17 C T 7517845 7517845 Baylor ZNF595 152687 genome.wustl.edu GRCh37 4 59360 59360 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000526473.2:c.41C>A p.Ser14Tyr p.S14Y ENST00000526473 14 tCc/tAc 0 Missense_Mutation C 30 ZNF595 SNP 4 C A 49360 49360 WashU EPB41L3 23136 genome.wustl.edu GRCh37 18 5445240 5445240 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341928.2:c.385C>T p.Arg129Cys p.R129C ENST00000341928 NM_012307.3 129 Cgc/Tgc 0 Missense_Mutation G 40 EPB41L3 SNP 18 G A 5435240 5435240 WashU OR56A1 120796 genome.wustl.edu GRCh37 11 6048547 6048547 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316650.5:c.388T>G p.Tyr130Asp p.Y130D ENST00000316650 NM_001001917.2 130 Tat/Gat 0 Missense_Mutation A 13 OR56A1 SNP 11 A C 6005123 6005123 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577142 7577142 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.796G>A p.Gly266Arg p.G266R ENST00000269305 NM_001126112.2 266 Gga/Aga 0 Missense_Mutation C 22 TP53 SNP 17 C T 7517867 7517867 WashU CPNE9 151835 genome.wustl.edu GRCh37 3 9768379 9768379 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000383832.3:c.1375G>A p.Val459Ile p.V459I ENST00000383832 NM_153635.2 459 Gtc/Atc 0 Missense_Mutation G 40 CPNE9 SNP 3 G A 9743379 9743379 WashU OR1I1 126370 genome.wustl.edu GRCh37 19 15198451 15198451 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000209540.2:c.575C>T p.Thr192Met p.T192M ENST00000209540 NM_001004713.1 192 aCg/aTg 0 Missense_Mutation C 19 OR1I1 SNP 19 C T 15059451 15059451 WashU CHERP 10523 genome.wustl.edu GRCh37 19 16641652 16641652 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000546361.2:c.714G>T p.Gln238His p.Q238H ENST00000546361 NM_006387.5 238 caG/caT 0 Missense_Mutation C 32 CHERP SNP 19 C A 16502652 16502652 WashU SPATA21 374955 genome.wustl.edu GRCh37 1 16748479 16748479 + intron_variant Intron SNP C C T novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335496.1:c.35-13G>A *12* ENST00000335496 NM_198546.1 0 Missense_Mutation C 19 SPATA21 SNP 1 C T 16621066 16621066 WashU PADI2 11240 genome.wustl.edu GRCh37 1 17396628 17396628 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375486.4:c.1719C>A p.Phe573Leu p.F573L ENST00000375486 NM_007365.2 573 ttC/ttA 0 Missense_Mutation G 45 PADI2 SNP 1 G T 17269215 17269215 WashU RP11-754I20.1 genome.wustl.edu GRCh37 14 19117185 19117185 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000514609.2:n.550C>A *184* ENST00000514609 0 Nonsense_Mutation C 29 ENSG00000215398 SNP 14 C A 18187185 18187185 WashU RHOB 388 genome.wustl.edu GRCh37 2 20647606 20647606 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272233.4:c.380T>G p.Val127Gly p.V127G ENST00000272233 NM_004040.2 127 gTc/gGc 0 Missense_Mutation T 58 RHOB SNP 2 T G 20511087 20511087 WashU CAD 790 genome.wustl.edu GRCh37 2 27456286 27456286 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264705.4:c.3098G>A p.Arg1033Gln p.R1033Q ENST00000264705 NM_004341.3 1033 cGg/cAg 0 Missense_Mutation G 39 CAD SNP 2 G A 27309790 27309790 WashU HM13 81502 genome.wustl.edu GRCh37 20 30142584 30142584 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000398174.3:c.760G>A p.Glu254Lys p.E254K ENST00000398174 NM_178581.1 254 Gaa/Aaa 0 Missense_Mutation G 37 HM13 SNP 20 G A 29606245 29606245 WashU NBEA 26960 genome.wustl.edu GRCh37 13 35630261 35630261 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400445.3:c.1087A>T p.Asn363Tyr p.N363Y ENST00000400445 NM_015678.4 363 Aat/Tat 0 Missense_Mutation A 1 NBEA SNP 13 A T 34528261 34528261 WashU STARD3NL 83930 genome.wustl.edu GRCh37 7 38256633 38256633 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000009041.7:c.389C>T p.Thr130Met p.T130M ENST00000009041 NM_032016.3 130 aCg/aTg 0 Missense_Mutation C 19 STARD3NL SNP 7 C T 38223158 38223158 WashU BUB1B 701 genome.wustl.edu GRCh37 15 40509809 40509809 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287598.6:c.2791C>T p.Arg931Trp p.R931W ENST00000287598 NM_001211.5 931 Cgg/Tgg 0 Missense_Mutation C 31 BUB1B SNP 15 C T 38297101 38297101 WashU SCN10A 6336 genome.wustl.edu GRCh37 3 38755561 38755561 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000449082.2:c.3692T>C p.Ile1231Thr p.I1231T ENST00000449082 NM_006514.2 1231 aTa/aCa 0 Missense_Mutation A 16 SCN10A SNP 3 A G 38730565 38730565 WashU MAOA 4128 genome.wustl.edu GRCh37 X 43572007 43572007 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338702.3:c.467C>A p.Thr156Asn p.T156N ENST00000338702 NM_000240.3 156 aCc/aAc 0 Missense_Mutation C 18 MAOA SNP 23 C A 43456951 43456951 WashU LAMB2 3913 genome.wustl.edu GRCh37 3 49166233 49166233 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000418109.1:c.1751G>A p.Arg584His p.R584H ENST00000418109 NM_002292.3 584 cGc/cAc 0 Missense_Mutation C 27 LAMB2 SNP 3 C T 49141237 49141237 WashU STARD6 147323 genome.wustl.edu GRCh37 18 51851219 51851219 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000581310.1:c.506T>C p.Met169Thr p.M169T ENST00000581310 169 aTg/aCg 0 Missense_Mutation A 8 STARD6 SNP 18 A G 50105217 50105217 WashU UNC13C 440279 genome.wustl.edu GRCh37 15 54556454 54556454 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260323.11:c.3537G>C p.Glu1179Asp p.E1179D ENST00000260323 NM_001080534.1 1179 gaG/gaC 0 Missense_Mutation G 33 UNC13C SNP 15 G C 52343746 52343746 WashU ARID4A 5926 genome.wustl.edu GRCh37 14 58814591 58814591 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355431.3:c.1399C>G p.Pro467Ala p.P467A ENST00000355431 NM_002892.3 467 Ccg/Gcg 0 Missense_Mutation C 30 ARID4A SNP 14 C G 57884344 57884344 WashU GPHN 10243 genome.wustl.edu GRCh37 14 67635728 67635728 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000478722.1:c.2054C>T p.Pro685Leu p.P685L ENST00000478722 NM_020806.4 685 cCt/cTt 0 Missense_Mutation C 24 GPHN SNP 14 C T 66705481 66705481 WashU AQP7P1 375719 genome.wustl.edu GRCh37 9 67273220 67273220 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334576.3:n.766C>A *256* ENST00000334576 0 Missense_Mutation G 36 AQP7P1 SNP 9 G T 66963040 66963040 WashU ARHGAP25 9938 genome.wustl.edu GRCh37 2 69049513 69049513 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409202.3:c.1242G>T p.Pro414= p.P414= ENST00000409202 414 ccG/ccT 0 Silent G 37 ARHGAP25 SNP 2 G T 68903017 68903017 WashU GCLM 2730 genome.wustl.edu GRCh37 1 94362292 94362292 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370238.3:c.422A>G p.Glu141Gly p.E141G ENST00000370238 NM_002061.2 141 gAg/gGg 0 Missense_Mutation T 54 GCLM SNP 1 T C 94134880 94134880 WashU SLC17A8 246213 genome.wustl.edu GRCh37 12 100784850 100784850 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000323346.5:c.426G>A p.Met142Ile p.M142I ENST00000323346 NM_001145288.1 142 atG/atA 0 Missense_Mutation G 45 SLC17A8 SNP 12 G A 99308981 99308981 WashU ANGPT1 284 genome.wustl.edu GRCh37 8 108348477 108348477 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000517746.1:c.476T>C p.Leu159Pro p.L159P ENST00000517746 NM_001199859.1 159 cTt/cCt 0 Missense_Mutation A 3 ANGPT1 SNP 8 A G 108417653 108417653 WashU GAP43 2596 genome.wustl.edu GRCh37 3 115439656 115439656 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393780.3:c.752C>T p.Thr251Ile p.T251I ENST00000393780 NM_001130064.1 251 aCc/aTc 0 Missense_Mutation C 18 GAP43 SNP 3 C T 116922346 116922346 WashU MAP3K19 80122 genome.wustl.edu GRCh37 2 135779370 135779370 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375845.3:c.53G>A p.Cys18Tyr p.C18Y ENST00000375845 NM_025052.3 18 tGt/tAt 0 Missense_Mutation C 17 YSK4 SNP 2 C T 135495840 135495840 WashU HHIP 64399 genome.wustl.edu GRCh37 4 145629388 145629388 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296575.3:c.1226C>A p.Pro409Gln p.P409Q ENST00000296575 NM_022475.2 409 cCa/cAa 0 Missense_Mutation C 21 HHIP SNP 4 C A 145848838 145848838 WashU MLLT4 4301 genome.wustl.edu GRCh37 6 168352133 168352133 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392108.3:c.4078A>G p.Ile1360Val p.I1360V ENST00000392108 NM_001040000.2 1360 Atc/Gtc 0 Missense_Mutation A 4 MLLT4 SNP 6 A G 168094982 168094982 WashU FAF2 23197 genome.wustl.edu GRCh37 5 175921229 175921229 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000261942.6:c.614G>A p.Arg205Lys p.R205K ENST00000261942 NM_014613.2 205 aGg/aAg 0 Missense_Mutation G 35 FAF2 SNP 5 G A 175853835 175853835 WashU CPS1 1373 genome.wustl.edu GRCh37 2 211421560 211421560 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000430249.2:c.121G>A p.Gly41Ser p.G41S ENST00000430249 NM_001122633.2 41 Ggc/Agc 0 Missense_Mutation G 47 CPS1 SNP 2 G A 211129805 211129805 WashU RAB4A 5867 genome.wustl.edu GRCh37 1 229438689 229438689 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366690.4:c.622G>A p.Ala208Thr p.A208T ENST00000366690 NM_004578.3 208 Gca/Aca 0 Missense_Mutation G 38 RAB4A SNP 1 G A 227505312 227505312 WashU OR14K1 343170 genome.wustl.edu GRCh37 1 247902119 247902119 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000283225.2:c.203A>T p.Asp68Val p.D68V ENST00000283225 68 gAc/gTc 0 Missense_Mutation A 10 OR14K1 SNP 1 A T 245968742 245968742 WashU ADH6 130 genome.wustl.edu GRCh37 4 100131626 100131630 + frameshift_variant Frame_Shift_Del DEL CACTG CACTG - novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 - - - ACTG ACTG ACTG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000394899.2:c.292_296del p.Gln98TrpfsTer10 p.Q98Wfs*10 ENST00000394899 NM_001102470.1 98 CAGTGt/t 0 Indel NACTG 17 ADH6 Indel 4 -- NACTG 100350653 100350649 WashU PLBD1-AS1 101928290 genome.wustl.edu GRCh37 12 14767454 14767454 + splice_acceptor_variant,non_coding_transcript_variant Splice_Site SNP A A G novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000542401.1:n.251-2A>G p.X84_splice ENST00000542401 0 Splice_Site_SNP A 7 LOC100131547 SNP 12 A G 14658721 14658721 WashU KIF17 57576 genome.wustl.edu GRCh37 1 21016709 21016709 + synonymous_variant Silent SNP C C T Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000247986.2:c.1353G>A p.Thr451= p.T451= ENST00000247986 451 acG/acA 0 Silent C 27 KIF17 SNP 1 C T 20889296 20889296 WashU WNT3A 89780 genome.wustl.edu GRCh37 1 228210473 228210473 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000284523.1:c.177C>T p.Tyr59= p.Y59= ENST00000284523 NM_033131.3 59 taC/taT 0 Silent C 19 WNT3A SNP 1 C T 226277096 226277096 WashU MYO1H 283446 genome.wustl.edu GRCh37 12 109877506 109877506 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310903.5:c.2317C>T p.Arg773Trp p.R773W ENST00000310903 773 Cgg/Tgg 0 Missense_Mutation C 27 MYO1H SNP 12 C T 108361889 108361889 WashU VEZT 55591 genome.wustl.edu GRCh37 12 95694103 95694103 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000436874.1:c.1994G>C p.Cys665Ser p.C665S ENST00000436874 NM_017599.3 665 tGt/tCt 0 Missense_Mutation G 48 VEZT SNP 12 G C 94218234 94218234 WashU OR4G2P 26680 genome.wustl.edu GRCh37 15 102467500 102467500 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328113.3:n.411T>C *137* ENST00000328113 0 Silent A 12 OR4G2P SNP 15 G G 100285023 100285023 WashU ADCY5 111 genome.wustl.edu GRCh37 3 123008730 123008730 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1348-01 TCGA-04-1348-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000462833.1:c.3399C>T p.Ser1133= p.S1133= ENST00000462833 NM_183357.2 1133 tcC/tcT 0 Silent G 39 ADCY5 SNP 3 G A 124491420 124491420 WashU TTN 7273 genome.wustl.edu GRCh37 2 179391846 179391854 + inframe_deletion In_Frame_Del DEL TCAGGGTTG TCAGGGTTG - Unknown TCGA-04-1348-01 TCGA-04-1348-11 TCAGGGTTG TCAGGGTTG TCAGGGTTG - TCAGGGTTG TCAGGGTTG Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000589042.1:c.107861_107869del p.Thr35954_Leu35956del p.T35954_L35956del ENST00000589042 NM_001267550.1 35954 aCAACCCTGAtc/atc 0 In_Frame_Del TCAGGGTTG 50 TTN DEL 2 TCAGGGTTG - 179100100 179100092 WashU SAFB 6294 genome.wustl.edu GRCh37 19 5641841 5641841 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000588852.1:c.430G>A p.Val144Ile p.V144I ENST00000588852 144 Gtt/Att 0 Missense_Mutation G 40 SAFB SNP 19 G A 5592841 5592841 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578272 7578272 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.577C>T p.His193Tyr p.H193Y ENST00000269305 NM_001126112.2 193 Cat/Tat 0 Missense_Mutation G 46 TP53 SNP 17 G A 7518997 7518997 WashU ZNF561 93134 genome.wustl.edu GRCh37 19 9721465 9721465 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302851.3:c.872G>C p.Arg291Thr p.R291T ENST00000302851 NM_152289.2 291 aGa/aCa 0 Missense_Mutation C 32 ZNF561 SNP 19 C G 9582465 9582465 WashU TLR8 51311 genome.wustl.edu GRCh37 X 12938695 12938695 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000218032.6:c.1536G>T p.Leu512= p.L512= ENST00000218032 NM_138636.4 512 ctG/ctT 0 Silent G 48 TLR8 SNP 23 G T 12848616 12848616 WashU ILVBL 10994 genome.wustl.edu GRCh37 19 15233783 15233783 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263383.3:c.524T>A p.Phe175Tyr p.F175Y ENST00000263383 NM_006844.4 175 tTt/tAt 0 Missense_Mutation A 1 ILVBL SNP 19 A T 15094783 15094783 WashU KCNJ12 3768 genome.wustl.edu GRCh37 17 21319721 21319721 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000583088.1:c.1067G>A p.Arg356His p.R356H ENST00000583088 NM_021012.4 356 cGc/cAc 0 Missense_Mutation G 38 KCNJ12 SNP 17 G A 21260314 21260314 WashU TRAV19 genome.wustl.edu GRCh37 14 22476235 22476235 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390447.3:c.165C>T p.Phe55= p.F55= ENST00000390447 55 ttC/ttT 0 Silent C 32 uc001wcu.2 SNP 14 C T 21546075 21546075 WashU IGF2BP3 10643 genome.wustl.edu GRCh37 7 23391065 23391065 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258729.3:c.542G>T p.Arg181Met p.R181M ENST00000258729 NM_006547.2 181 aGg/aTg 0 Missense_Mutation C 24 IGF2BP3 SNP 7 C A 23357590 23357590 WashU ATAD5 79915 genome.wustl.edu GRCh37 17 29219769 29219769 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321990.4:c.4403T>G p.Ile1468Ser p.I1468S ENST00000321990 NM_024857.3 1468 aTt/aGt 0 Missense_Mutation T 52 ATAD5 SNP 17 T G 26243895 26243895 WashU PPM1G 5496 genome.wustl.edu GRCh37 2 27605444 27605444 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344034.4:c.1230C>T p.Asn410= p.N410= ENST00000344034 NM_177983.2 410 aaC/aaT 0 Silent G 44 PPM1G SNP 2 G A 27458948 27458948 WashU SYT10 341359 genome.wustl.edu GRCh37 12 33579432 33579432 + splice_acceptor_variant Splice_Site SNP T T C novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000228567.3:c.152-2A>G p.X51_splice ENST00000228567 NM_198992.3 0 Splice_Site_SNP T 55 SYT10 SNP 12 T C 33470699 33470699 WashU PPP2R3C 55012 genome.wustl.edu GRCh37 14 35564333 35564333 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261475.5:c.896C>T p.Ser299Leu p.S299L ENST00000261475 NM_017917.2 299 tCa/tTa 0 Missense_Mutation G 45 PPP2R3C SNP 14 G A 34634084 34634084 WashU GOLGA4 2803 genome.wustl.edu GRCh37 3 37367018 37367018 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356847.4:c.3707C>G p.Ala1236Gly p.A1236G ENST00000356847 NM_001172713.1 1236 gCg/gGg 0 Missense_Mutation C 27 GOLGA4 SNP 3 C G 37342022 37342022 WashU ZNF248 57209 genome.wustl.edu GRCh37 10 38126603 38126603 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395867.3:c.180C>T p.Ile60= p.I60= ENST00000395867 NM_001267606.1 60 atC/atT 0 Silent G 37 ZNF248 SNP 10 G A 38166609 38166609 WashU MAP4K3 8491 genome.wustl.edu GRCh37 2 39485580 39485580 + splice_region_variant,synonymous_variant Splice_Region SNP A A G novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263881.3:c.2379T>C p.Cys793= p.C793= ENST00000263881 NM_003618.3 793 tgT/tgC 0 Silent A 2 MAP4K3 SNP 2 A G 39339084 39339084 WashU WNT9B 7484 genome.wustl.edu GRCh37 17 44952406 44952406 + intron_variant Intron SNP C C G novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000290015.2:c.335-61C>G *112* ENST00000290015 NM_003396.1 0 Missense_Mutation C 28 WNT9B SNP 17 C G 42307405 42307405 WashU PPARA 5465 genome.wustl.edu GRCh37 22 46594453 46594453 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396000.2:c.173G>C p.Gly58Ala p.G58A ENST00000396000 58 gGa/gCa 0 Missense_Mutation G 41 PPARA SNP 22 G C 44973117 44973117 WashU SLC9A7 84679 genome.wustl.edu GRCh37 X 46466493 46466493 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000328306.4:c.2072C>T p.Thr691Met p.T691M ENST00000328306 NM_001257291.1 691 aCg/aTg 0 Missense_Mutation G 40 SLC9A7 SNP 23 G A 46351437 46351437 WashU OPN5 221391 genome.wustl.edu GRCh37 6 47763300 47763300 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371211.2:c.756+1G>C p.X252_splice ENST00000371211 NM_181744.3 0 Splice_Site_SNP G 44 OPN5 SNP 6 G C 47871259 47871259 WashU CGNL1 84952 genome.wustl.edu GRCh37 15 57731660 57731660 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000281282.5:c.1463G>A p.Gly488Asp p.G488D ENST00000281282 NM_032866.4 488 gGt/gAt 0 Missense_Mutation G 44 CGNL1 SNP 15 G A 55518952 55518952 WashU R3HDM2 22864 genome.wustl.edu GRCh37 12 57651826 57651826 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000347140.3:c.2354T>A p.Leu785His p.L785H ENST00000347140 785 cTc/cAc 0 Missense_Mutation A 11 R3HDM2 SNP 12 A T 55938093 55938093 WashU AASDH 132949 genome.wustl.edu GRCh37 4 57217538 57217538 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000205214.6:c.1662C>A p.Asp554Glu p.D554E ENST00000205214 NM_181806.2 554 gaC/gaA 0 Missense_Mutation G 44 AASDH SNP 4 G T 56912295 56912295 WashU C14orf39 317761 genome.wustl.edu GRCh37 14 60903693 60903693 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321731.3:c.1634C>T p.Thr545Ile p.T545I ENST00000321731 NM_174978.2 545 aCa/aTa 0 Missense_Mutation G 48 C14orf39 SNP 14 G A 59973446 59973446 WashU PEG3 5178 genome.wustl.edu GRCh37 19 57328633 57328633 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326441.9:c.1177C>T p.Arg393Cys p.R393C ENST00000326441 NM_006210.2 393 Cgc/Tgc 0 Missense_Mutation G 38 PEG3 SNP 19 G A 62020445 62020445 WashU CD36 948 genome.wustl.edu GRCh37 7 80303418 80303418 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000435819.1:c.1374T>C p.Ala458= p.A458= ENST00000435819 458 gcT/gcC 0 Silent T 56 CD36 SNP 7 T C 80141354 80141354 WashU CHMP4C 92421 genome.wustl.edu GRCh37 8 82665358 82665358 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297265.4:c.250G>T p.Gly84Cys p.G84C ENST00000297265 NM_152284.3 84 Ggc/Tgc 0 Missense_Mutation G 47 CHMP4C SNP 8 G T 82827913 82827913 WashU GPR98 84059 genome.wustl.edu GRCh37 5 90049489 90049489 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405460.2:c.11220C>A p.Thr3740= p.T3740= ENST00000405460 NM_032119.3 3740 acC/acA 0 Silent C 22 GPR98 SNP 5 C A 90085245 90085245 WashU PTCD1 26024 genome.wustl.edu GRCh37 7 99032479 99032479 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000413834.1:c.534G>T p.Trp178Cys p.W178C ENST00000413834 178 tgG/tgT 0 Missense_Mutation C 26 PTCD1 SNP 7 C A 98870415 98870415 WashU ACAT1 38 genome.wustl.edu GRCh37 11 108005924 108005924 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265838.4:c.390G>T p.Met130Ile p.M130I ENST00000265838 NM_000019.3 130 atG/atT 0 Missense_Mutation G 45 ACAT1 SNP 11 G T 107511134 107511134 WashU ACAT1 38 genome.wustl.edu GRCh37 11 108005950 108005950 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265838.4:c.416G>A p.Ser139Asn p.S139N ENST00000265838 NM_000019.3 139 aGt/aAt 0 Missense_Mutation G 36 ACAT1 SNP 11 G A 107511160 107511160 WashU PKHD1L1 93035 genome.wustl.edu GRCh37 8 110453043 110453043 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378402.5:c.4061G>C p.Gly1354Ala p.G1354A ENST00000378402 NM_177531.4 1354 gGa/gCa 0 Missense_Mutation G 41 PKHD1L1 SNP 8 G C 110522219 110522219 WashU PNLIPRP1 5407 genome.wustl.edu GRCh37 10 118355832 118355832 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000528052.1:c.572C>A p.Thr191Lys p.T191K ENST00000528052 191 aCa/aAa 0 Missense_Mutation C 17 PNLIPRP1 SNP 10 C A 118345822 118345822 WashU POLQ 10721 genome.wustl.edu GRCh37 3 121228536 121228536 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264233.5:c.1831C>G p.Pro611Ala p.P611A ENST00000264233 NM_199420.3 611 Cca/Gca 0 Missense_Mutation G 41 POLQ SNP 3 G C 122711226 122711226 WashU TRPC3 7222 genome.wustl.edu GRCh37 4 122846207 122846207 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379645.3:c.1142G>C p.Arg381Pro p.R381P ENST00000379645 NM_001130698.1 381 cGt/cCt 0 Missense_Mutation C 19 TRPC3 SNP 4 C G 123065657 123065657 WashU SPAM1 6677 genome.wustl.edu GRCh37 7 123599954 123599954 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340011.5:c.1461C>T p.Ser487= p.S487= ENST00000340011 NM_003117.4 487 tcC/tcT 0 Silent C 21 SPAM1 SNP 7 C T 123387190 123387190 WashU ROBO4 54538 genome.wustl.edu GRCh37 11 124765546 124765546 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000306534.3:c.843G>T p.Thr281= p.T281= ENST00000306534 NM_019055.5 281 acG/acT 0 Silent C 23 ROBO4 SNP 11 C A 124270756 124270756 WashU L3MBTL3 84456 genome.wustl.edu GRCh37 6 130387570 130387570 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000529410.1:c.937G>A p.Ala313Thr p.A313T ENST00000529410 313 Gct/Act 0 Missense_Mutation G 38 L3MBTL3 SNP 6 G A 130429263 130429263 WashU EFR3A 23167 genome.wustl.edu GRCh37 8 132958828 132958828 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000254624.5:c.314C>T p.Ala105Val p.A105V ENST00000254624 NM_015137.4 105 gCa/gTa 0 Missense_Mutation C 25 EFR3A SNP 8 C T 133028010 133028010 WashU GPR126 57211 genome.wustl.edu GRCh37 6 142688960 142688960 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367609.3:c.358T>G p.Phe120Val p.F120V ENST00000367609 NM_198569.2 120 Ttt/Gtt 0 Missense_Mutation T 52 GPR126 SNP 6 T G 142730653 142730653 WashU OR2A12 346525 genome.wustl.edu GRCh37 7 143792990 143792990 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000408949.2:c.790A>G p.Ser264Gly p.S264G ENST00000408949 NM_001004135.1 264 Agc/Ggc 0 Missense_Mutation A 3 OR2A12 SNP 7 A G 143423923 143423923 WashU GTDC1 79712 genome.wustl.edu GRCh37 2 144764886 144764886 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392869.2:c.738G>C p.Leu246Phe p.L246F ENST00000392869 NM_001284234.1 246 ttG/ttC 0 Missense_Mutation C 29 GTDC1 SNP 2 C G 144481356 144481356 WashU GFM1 85476 genome.wustl.edu GRCh37 3 158371186 158371186 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000486715.1:c.928T>C p.Leu310= p.L310= ENST00000486715 NM_024996.5 310 Tta/Cta 0 Silent T 64 GFM1 SNP 3 T C 159853880 159853880 WashU GABRA6 2559 genome.wustl.edu GRCh37 5 161119060 161119060 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274545.5:c.940G>A p.Val314Ile p.V314I ENST00000274545 314 Gtc/Atc 0 Missense_Mutation G 40 GABRA6 SNP 5 G A 161051638 161051638 WashU DUSP27 92235 genome.wustl.edu GRCh37 1 167095999 167095999 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361200.2:c.1631T>A p.Leu544Gln p.L544Q ENST00000361200 544 cTg/cAg 0 Missense_Mutation T 55 DUSP27 SNP 1 T A 165362623 165362623 WashU SLC9C2 284525 genome.wustl.edu GRCh37 1 173545823 173545823 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367714.3:c.879G>A p.Pro293= p.P293= ENST00000367714 NM_178527.3 293 ccG/ccA 0 Silent C 31 SLC9A11 SNP 1 C T 171812446 171812446 WashU DYNC1I2 1781 genome.wustl.edu GRCh37 2 172569285 172569285 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397119.3:c.344A>T p.His115Leu p.H115L ENST00000397119 NM_001378.2 115 cAt/cTt 0 Missense_Mutation A 8 DYNC1I2 SNP 2 A T 172277531 172277531 WashU TTN 7273 genome.wustl.edu GRCh37 2 179559383 179559383 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.31369A>G p.Ile10457Val p.I10457V ENST00000589042 NM_001267550.1 10457 Att/Gtt 0 Missense_Mutation T 50 TTN SNP 2 T C 179267628 179267628 WashU IVNS1ABP 10625 genome.wustl.edu GRCh37 1 185278530 185278530 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367498.3:c.96T>A p.Cys32Ter p.C32* ENST00000367498 NM_006469.4 32 tgT/tgA 0 Nonsense_Mutation A 6 IVNS1ABP SNP 1 A T 183545153 183545153 WashU EHHADH 1962 genome.wustl.edu GRCh37 3 184910026 184910026 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000231887.3:c.2160C>G p.Ser720Arg p.S720R ENST00000231887 NM_001166415.1 720 agC/agG 0 Missense_Mutation G 46 EHHADH SNP 3 G C 186392720 186392720 WashU CRB1 23418 genome.wustl.edu GRCh37 1 197325987 197325987 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000367400.3:c.1015G>A p.Asp339Asn p.D339N ENST00000367400 NM_201253.2 339 Gac/Aac 0 Missense_Mutation G 37 CRB1 SNP 1 G A 195592610 195592610 WashU PLXNA2 5362 genome.wustl.edu GRCh37 1 208390402 208390402 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367033.3:c.866A>T p.Lys289Met p.K289M ENST00000367033 NM_025179.3 289 aAg/aTg 0 Missense_Mutation T 56 PLXNA2 SNP 1 T A 206457025 206457025 WashU CENPF 1063 genome.wustl.edu GRCh37 1 214820500 214820500 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366955.3:c.7587T>G p.Asn2529Lys p.N2529K ENST00000366955 NM_016343.3 2529 aaT/aaG 0 Missense_Mutation T 50 CENPF SNP 1 T G 212887123 212887123 WashU CCDC108 255101 genome.wustl.edu GRCh37 2 219892423 219892423 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341552.5:c.2160T>G p.Pro720= p.P720= ENST00000341552 NM_194302.3 720 ccT/ccG 0 Silent A 11 CCDC108 SNP 2 A C 219600667 219600667 WashU TRIM67 440730 genome.wustl.edu GRCh37 1 231344752 231344752 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366653.5:c.1879A>G p.Asn627Asp p.N627D ENST00000366653 627 Aac/Gac 0 Missense_Mutation A 5 TRIM67 SNP 1 A G 229411375 229411375 WashU TFB2M 64216 genome.wustl.edu GRCh37 1 246704364 246704364 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366514.4:c.1160G>C p.Trp387Ser p.W387S ENST00000366514 NM_022366.2 387 tGg/tCg 0 Missense_Mutation C 21 TFB2M SNP 1 C G 244770987 244770987 WashU OR2T33 391195 genome.wustl.edu GRCh37 1 248436166 248436166 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318021.2:c.951C>A p.His317Gln p.H317Q ENST00000318021 NM_001004695.1 317 caC/caA 0 Missense_Mutation G 48 OR2T33 SNP 1 G T 246502789 246502789 WashU ADAMTS14 140766 genome.wustl.edu GRCh37 10 72503414 72503414 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000373208.1:c.2044G>A p.Val682Ile p.V682I ENST00000373208 NM_139155.2 682 Gtc/Atc 0 Missense_Mutation G 40 ADAMTS14 SNP 10 G A 72173420 72173420 WashU OR11H6 122748 genome.wustl.edu GRCh37 14 20691877 20691877 + missense_variant Missense_Mutation SNP T T G Unknown TCGA-13-0894-01 TCGA-13-0894-10 T T T G T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000315519.2:c.9T>G p.Phe3Leu p.F3L ENST00000315519 NM_001004480.1 3 ttT/ttG 0 Missense_Mutation T 61 OR11H6 SNP 14 T G 19761717 19761717 WashU RASSF2 9770 genome.wustl.edu GRCh37 20 4776554 4776554 + missense_variant Missense_Mutation SNP G G T Unknown TCGA-13-0894-01 TCGA-13-0894-10 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000379400.3:c.194C>A p.Pro65His p.P65H ENST00000379400 NM_014737.2 65 cCc/cAc 0 Missense_Mutation G 43 RASSF2 SNP 20 G T 4724554 4724554 WashU ARHGEF10L 55160 broad.mit.edu GRCh37 1 17942686 17942686 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000361221.3:c.824A>T p.Lys275Met p.K275M ENST00000361221 NM_018125.3 275 aAg/aTg 0 Missense_Mutation A 3 ARHGEF10L SNP 1 A T 17815273 17815273 Broad ASH1L 55870 broad.mit.edu GRCh37 1 155452077 155452077 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000392403.3:c.584C>T p.Thr195Ile p.T195I ENST00000392403 NM_018489.2 195 aCt/aTt 0 Missense_Mutation G 36 ASH1L SNP 1 G A 153718701 153718701 Broad SEC16B 89866 broad.mit.edu GRCh37 1 177901866 177901866 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000308284.6:c.2899C>G p.Leu967Val p.L967V ENST00000308284 NM_033127.2 967 Ctg/Gtg 0 Missense_Mutation G 33 SEC16B SNP 1 G C 176168489 176168489 Broad PPP1R12B 4660 broad.mit.edu GRCh37 1 202406995 202406995 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000608999.1:c.1301C>G p.Ser434Cys p.S434C ENST00000608999 NM_002481.3 434 tCt/tGt 0 Missense_Mutation C 32 PPP1R12B SNP 1 C G 200673618 200673618 Broad PTPN14 5784 broad.mit.edu GRCh37 1 214638126 214638126 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000366956.5:c.21C>T p.Leu7= p.L7= ENST00000366956 NM_005401.4 7 ctC/ctT 0 Silent G 41 PTPN14 SNP 1 G A 212704749 212704749 Broad VN1R5 317705 broad.mit.edu GRCh37 1 247420260 247420260 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000472952.2:n.887T>C *296* ENST00000472952 0 Missense_Mutation T 49 VN1R5 SNP 1 T C 245486883 245486883 Broad ARMC4 55130 broad.mit.edu GRCh37 10 28149706 28149706 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000305242.5:c.2869G>C p.Val957Leu p.V957L ENST00000305242 NM_018076.2 957 Gtg/Ctg 0 Missense_Mutation C 20 ARMC4 SNP 10 C G 28189712 28189712 Broad ANK3 288 broad.mit.edu GRCh37 10 61833325 61833325 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000280772.2:c.7314G>C p.Leu2438Phe p.L2438F ENST00000280772 NM_020987.3 2438 ttG/ttC 0 Missense_Mutation C 29 ANK3 SNP 10 C G 61503331 61503331 Broad C10orf91 170393 broad.mit.edu GRCh37 10 134261465 134261465 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000392630.3:c.338A>G p.Asp113Gly p.D113G ENST00000392630 NM_173541.2 113 gAt/gGt 0 Missense_Mutation A 12 C10orf91 SNP 10 A G 134111455 134111455 Broad OR52N4 390072 broad.mit.edu GRCh37 11 5776083 5776083 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000317254.3:c.113T>A p.Val38Asp p.V38D ENST00000317254 NM_001005175.3 38 gTt/gAt 0 Missense_Mutation T 60 OR52N4 SNP 11 T A 5732659 5732659 Broad OR5W2 390148 broad.mit.edu GRCh37 11 55681278 55681278 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000344514.1:c.781C>T p.Arg261Trp p.R261W ENST00000344514 NM_001001960.1 261 Cgg/Tgg 0 Missense_Mutation G 39 OR5W2 SNP 11 G A 55437854 55437854 Broad SLC22A12 116085 broad.mit.edu GRCh37 11 64359399 64359399 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000377574.1:c.371G>A p.Arg124His p.R124H ENST00000377574 NM_144585.3 124 cGc/cAc 0 Missense_Mutation G 38 SLC22A12 SNP 11 G A 64115975 64115975 Broad FOLR2 2350 broad.mit.edu GRCh37 11 71932638 71932638 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 C A C C Unknown Valid Somatic x x 454_PCR_WGA x ENST00000298223.6:c.600C>A p.Ser200Arg p.S200R ENST00000298223 NM_001113535.1 200 agC/agA 0 Missense_Mutation C 27 FOLR2 SNP 11 C A 71610286 71610286 Broad ANKRD52 283373 broad.mit.edu GRCh37 12 56647988 56647988 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000267116.7:c.769G>C p.Glu257Gln p.E257Q ENST00000267116 NM_173595.3 257 Gag/Cag 0 Missense_Mutation C 29 ANKRD52 SNP 12 C G 54934255 54934255 Broad GCN1L1 10985 broad.mit.edu GRCh37 12 120600702 120600702 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000300648.6:c.2112G>A p.Arg704= p.R704= ENST00000300648 NM_006836.1 704 agG/agA 0 Silent C 26 GCN1L1 SNP 12 C T 119085085 119085085 Broad SLC7A7 9056 broad.mit.edu GRCh37 14 23248049 23248049 + synonymous_variant Silent SNP G G C novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000397532.3:c.723C>G p.Gly241= p.G241= ENST00000397532 241 ggC/ggG 0 Silent G 34 SLC7A7 SNP 14 G C 22317889 22317889 Broad MYH7 4625 broad.mit.edu GRCh37 14 23888732 23888732 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000355349.3:c.3813C>T p.Asn1271= p.N1271= ENST00000355349 NM_000257.2 1271 aaC/aaT 0 Silent G 40 MYH7 SNP 14 G A 22958572 22958572 Broad ANPEP 290 broad.mit.edu GRCh37 15 90335747 90335747 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000300060.6:c.2296C>T p.Pro766Ser p.P766S ENST00000300060 NM_001150.2 766 Cca/Tca 0 Missense_Mutation G 41 ANPEP SNP 15 G A 88136751 88136751 Broad BLM 641 broad.mit.edu GRCh37 15 91292753 91292753 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000355112.3:c.255G>T p.Arg85Ser p.R85S ENST00000355112 NM_000057.2 85 agG/agT 0 Missense_Mutation G 43 BLM SNP 15 G T 89093757 89093757 Broad SMG1 23049 broad.mit.edu GRCh37 16 18882779 18882779 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000446231.2:c.2209G>A p.Glu737Lys p.E737K ENST00000446231 737 Gaa/Aaa 0 Missense_Mutation C 30 SMG1 SNP 16 C T 18790280 18790280 Broad GFOD2 81577 broad.mit.edu GRCh37 16 67709567 67709567 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000268797.7:c.649G>A p.Val217Ile p.V217I ENST00000268797 NM_030819.3 217 Gtc/Atc 0 Missense_Mutation C 19 GFOD2 SNP 16 C T 66267068 66267068 Broad RANBP10 57610 broad.mit.edu GRCh37 16 67765391 67765391 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000317506.3:c.873C>T p.Ser291= p.S291= ENST00000317506 NM_020850.1 291 tcC/tcT 0 Silent G 47 RANBP10 SNP 16 G A 66322892 66322892 Broad CHST5 23563 broad.mit.edu GRCh37 16 75563653 75563653 + synonymous_variant Silent SNP G G C novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000336257.3:c.630C>G p.Leu210= p.L210= ENST00000336257 NM_024533.4 210 ctC/ctG 0 Silent G 45 CHST5 SNP 16 G C 74121154 74121154 Broad MYH1 4619 broad.mit.edu GRCh37 17 10404659 10404659 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 T G T T Unknown Valid Somatic x x 454_PCR_WGA x ENST00000226207.5:c.3506A>C p.Lys1169Thr p.K1169T ENST00000226207 NM_005963.3 1169 aAg/aCg 0 Missense_Mutation T 56 MYH1 SNP 17 T G 10345384 10345384 Broad TOP2A 7153 broad.mit.edu GRCh37 17 38554849 38554849 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 C A C C Unknown Valid Somatic x x 454_PCR_WGA x ENST00000423485.1:c.3498G>T p.Leu1166Phe p.L1166F ENST00000423485 NM_001067.3 1166 ttG/ttT 0 Missense_Mutation C 17 TOP2A SNP 17 C A 35808375 35808375 Broad STAT5B 6777 broad.mit.edu GRCh37 17 40362268 40362268 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000293328.3:c.1827C>G p.Asn609Lys p.N609K ENST00000293328 NM_012448.3 609 aaC/aaG 0 Missense_Mutation G 48 STAT5B SNP 17 G C 37615794 37615794 Broad BRCA1 672 broad.mit.edu GRCh37 17 41226411 41226411 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000357654.3:c.4612C>T p.Gln1538Ter p.Q1538* ENST00000357654 NM_007294.3 1538 Cag/Tag 0 Nonsense_Mutation G 48 BRCA1 SNP 17 G A 38479937 38479937 Broad MRPL10 124995 broad.mit.edu GRCh37 17 45904417 45904417 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000290208.7:c.406T>C p.Phe136Leu p.F136L ENST00000290208 136 Ttc/Ctc 0 Missense_Mutation A 3 MRPL10 SNP 17 A G 43259416 43259416 Broad SPAG9 9043 broad.mit.edu GRCh37 17 49197872 49197872 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000262013.7:c.146A>C p.Glu49Ala p.E49A ENST00000262013 NM_001130528.2 49 gAg/gCg 0 Missense_Mutation T 54 SPAG9 SNP 17 T G 46552871 46552871 Broad ZNF236 7776 broad.mit.edu GRCh37 18 74622099 74622099 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000253159.8:c.2621C>G p.Ser874Cys p.S874C ENST00000253159 NM_007345.3 874 tCc/tGc 0 Missense_Mutation C 30 ZNF236 SNP 18 C G 72751087 72751087 Broad AP1M1 8907 broad.mit.edu GRCh37 19 16314404 16314404 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000444449.2:c.177G>A p.Trp59Ter p.W59* ENST00000444449 NM_001130524.1 59 tgG/tgA 0 Nonsense_Mutation G 41 AP1M1 SNP 19 G A 16175404 16175404 Broad NCAN 1463 broad.mit.edu GRCh37 19 19329823 19329823 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000252575.6:c.173C>T p.Pro58Leu p.P58L ENST00000252575 NM_004386.2 58 cCc/cTc 0 Missense_Mutation C 22 NCAN SNP 19 C T 19190823 19190823 Broad HPN 3249 broad.mit.edu GRCh37 19 35551301 35551301 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000262626.2:c.505A>C p.Thr169Pro p.T169P ENST00000262626 NM_182983.2 169 Acc/Ccc 0 Missense_Mutation A 6 HPN SNP 19 A C 40243141 40243141 Broad CD22 933 broad.mit.edu GRCh37 19 35837099 35837099 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000085219.5:c.2373T>A p.Asp791Glu p.D791E ENST00000085219 NM_001771.3 791 gaT/gaA 0 Missense_Mutation T 51 CD22 SNP 19 T A 40528939 40528939 Broad PIKFYVE 200576 broad.mit.edu GRCh37 2 209195353 209195353 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264380.4:c.3898G>A p.Asp1300Asn p.D1300N ENST00000264380 NM_015040.3 1300 Gat/Aat 0 Missense_Mutation G 41 PIKFYVE SNP 2 G A 208903598 208903598 Broad SLC16A14 151473 broad.mit.edu GRCh37 2 230923815 230923815 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000295190.4:c.254T>G p.Ile85Arg p.I85R ENST00000295190 NM_152527.4 85 aTa/aGa 0 Missense_Mutation A 16 SLC16A14 SNP 2 A C 230632059 230632059 Broad ARMC9 80210 broad.mit.edu GRCh37 2 232209764 232209764 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000349938.4:c.1956G>C p.Arg652Ser p.R652S ENST00000349938 NM_025139.4 652 agG/agC 0 Missense_Mutation G 42 ARMC9 SNP 2 G C 231918008 231918008 Broad SOGA1 140710 broad.mit.edu GRCh37 20 35443807 35443807 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000237536.4:c.2038G>T p.Gly680Cys p.G680C ENST00000237536 NM_080627.2 680 Ggc/Tgc 0 Missense_Mutation C 21 C20orf117 SNP 20 C A 34877221 34877221 Broad TTI1 9675 broad.mit.edu GRCh37 20 36640434 36640434 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000373448.2:c.1785C>G p.Ile595Met p.I595M ENST00000373448 NM_014657.1 595 atC/atG 0 Missense_Mutation G 45 TTI1 SNP 20 G C 36073848 36073848 Broad EMID1 129080 broad.mit.edu GRCh37 22 29627097 29627097 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000334018.6:c.554C>T p.Ala185Val p.A185V ENST00000334018 NM_001267895.1 185 gCc/gTc 0 Missense_Mutation C 26 EMID1 SNP 22 C T 27957097 27957097 Broad CACNA1I 8911 broad.mit.edu GRCh37 22 40054966 40054966 + synonymous_variant Silent SNP T T G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000402142.3:c.2175T>G p.Gly725= p.G725= ENST00000402142 NM_021096.3 725 ggT/ggG 0 Silent T 59 CACNA1I SNP 22 T G 38384912 38384912 Broad TTLL12 23170 broad.mit.edu GRCh37 22 43572347 43572347 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000216129.6:c.896A>C p.His299Pro p.H299P ENST00000216129 NM_015140.3 299 cAc/cCc 0 Missense_Mutation T 59 TTLL12 SNP 22 T G 41902291 41902291 Broad TAMM41 132001 broad.mit.edu GRCh37 3 11851157 11851157 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000273037.5:c.709-1G>C p.X237_splice ENST00000273037 NM_138807.2 0 Splice_Site_SNP C 32 C3orf31 SNP 3 C G 11826157 11826157 Broad CACNA1D 776 broad.mit.edu GRCh37 3 53531457 53531457 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000288139.4:c.346C>T p.Arg116Ter p.R116* ENST00000288139 NM_000720.3 116 Cga/Tga 0 Nonsense_Mutation C 23 CACNA1D SNP 3 C T 53506497 53506497 Broad GFM1 85476 broad.mit.edu GRCh37 3 158376728 158376728 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000486715.1:c.1101A>G p.Gln367= p.Q367= ENST00000486715 NM_024996.5 367 caA/caG 0 Silent A 4 GFM1 SNP 3 A G 159859422 159859422 Broad YEATS2 55689 broad.mit.edu GRCh37 3 183442221 183442221 + synonymous_variant Silent SNP T T A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000305135.5:c.552T>A p.Ile184= p.I184= ENST00000305135 NM_018023.4 184 atT/atA 0 Silent T 61 YEATS2 SNP 3 T A 184924915 184924915 Broad BMP3 651 broad.mit.edu GRCh37 4 81967253 81967253 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000282701.2:c.678C>T p.Arg226= p.R226= ENST00000282701 NM_001201.2 226 cgC/cgT 0 Silent C 26 BMP3 SNP 4 C T 82186277 82186277 Broad ANK2 287 broad.mit.edu GRCh37 4 114275419 114275419 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000357077.4:c.5645C>T p.Ser1882Leu p.S1882L ENST00000357077 NM_001148.4 1882 tCa/tTa 0 Missense_Mutation C 29 ANK2 SNP 4 C T 114494868 114494868 Broad APC 324 broad.mit.edu GRCh37 5 112170682 112170682 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000257430.4:c.1778G>T p.Trp593Leu p.W593L ENST00000257430 NM_000038.5 593 tGg/tTg 0 Missense_Mutation G 47 APC SNP 5 G T 112198581 112198581 Broad HARS 3035 broad.mit.edu GRCh37 5 140054614 140054614 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000504156.1:c.1299T>C p.Asp433= p.D433= ENST00000504156 NM_002109.4 433 gaT/gaC 0 Silent A 8 HARS SNP 5 A G 140034798 140034798 Broad FLT4 2324 broad.mit.edu GRCh37 5 180058743 180058743 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000261937.6:c.94T>A p.Leu32Met p.L32M ENST00000261937 NM_182925.4 32 Ttg/Atg 0 Missense_Mutation A 3 FLT4 SNP 5 A T 179991349 179991349 Broad SLC26A8 116369 broad.mit.edu GRCh37 6 35919049 35919050 + missense_variant Missense_Mutation DNP AC AC TG novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000490799.1:c.2362_2363delinsCA p.Val788His p.V788H ENST00000490799 NM_052961.3 788 GTt/CAt 0 Missense_Mutation AC 2 SLC26A8 DNP 6 AC TG 36027028 36027027 Broad KCTD20 222658 broad.mit.edu GRCh37 6 36449518 36449518 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000373731.2:c.838G>C p.Gly280Arg p.G280R ENST00000373731 NM_173562.3 280 Ggg/Cgg 0 Missense_Mutation G 43 KCTD20 SNP 6 G C 36557496 36557496 Broad SYNCRIP 10492 broad.mit.edu GRCh37 6 86324940 86324940 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000369622.3:c.1406A>G p.Tyr469Cys p.Y469C ENST00000369622 NM_001159675.1 469 tAt/tGt 0 Missense_Mutation T 49 SYNCRIP SNP 6 T C 86381659 86381659 Broad SCML4 256380 broad.mit.edu GRCh37 6 108066282 108066282 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000369020.3:c.553G>T p.Val185Phe p.V185F ENST00000369020 NM_198081.3 185 Gtc/Ttc 0 Missense_Mutation C 17 SCML4 SNP 6 C A 108172975 108172975 Broad SAMD3 154075 broad.mit.edu GRCh37 6 130476009 130476009 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000368134.2:c.984C>G p.Asp328Glu p.D328E ENST00000368134 NM_001258275.1 328 gaC/gaG 0 Missense_Mutation G 48 SAMD3 SNP 6 G C 130517702 130517702 Broad ALDH8A1 64577 broad.mit.edu GRCh37 6 135253943 135253943 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000265605.2:c.820G>C p.Ala274Pro p.A274P ENST00000265605 NM_022568.3 274 Gca/Cca 0 Missense_Mutation C 26 ALDH8A1 SNP 6 C G 135295636 135295636 Broad AKAP12 9590 broad.mit.edu GRCh37 6 151673288 151673288 + synonymous_variant Silent SNP T T G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 T G T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000402676.2:c.3762T>G p.Thr1254= p.T1254= ENST00000402676 NM_005100.3 1254 acT/acG 0 Silent T 55 AKAP12 SNP 6 T G 151714981 151714981 Broad ADCY1 107 broad.mit.edu GRCh37 7 45697379 45697379 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000297323.7:c.1202C>T p.Thr401Met p.T401M ENST00000297323 NM_021116.2 401 aCg/aTg 0 Missense_Mutation C 19 ADCY1 SNP 7 C T 45663904 45663904 Broad HEPACAM2 253012 broad.mit.edu GRCh37 7 92844969 92844969 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000394468.2:c.460C>G p.His154Asp p.H154D ENST00000394468 NM_001039372.1 154 Cat/Gat 0 Missense_Mutation G 45 HEPACAM2 SNP 7 G C 92682905 92682905 Broad PMPCB 9512 broad.mit.edu GRCh37 7 102949405 102949405 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000249269.4:c.856G>C p.Val286Leu p.V286L ENST00000249269 NM_004279.2 286 Gtg/Ctg 0 Missense_Mutation G 48 PMPCB SNP 7 G C 102736641 102736641 Broad XKR6 286046 broad.mit.edu GRCh37 8 10782160 10782160 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000416569.2:c.945C>T p.Ser315= p.S315= ENST00000416569 NM_173683.3 315 agC/agT 0 Silent G 38 XKR6 SNP 8 G A 10819570 10819570 Broad WRN 7486 broad.mit.edu GRCh37 8 30942737 30942737 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000298139.5:c.1406A>G p.Glu469Gly p.E469G ENST00000298139 NM_000553.4 469 gAa/gGa 0 Missense_Mutation A 9 WRN SNP 8 A G 31062279 31062279 Broad PNMA3 29944 broad.mit.edu GRCh37 X 152225867 152225867 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown x x x ENST00000447306.1:c.455T>C p.Val152Ala p.V152A ENST00000447306 NM_013364.4 152 gTg/gCg 0 Missense_Mutation T 59 PNMA3 SNP 23 T C 151976523 151976523 Broad TP53 7157 broad.mit.edu GRCh37 17 7578179 7578180 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL CA CA - novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.669_670del p.Glu224GlyfsTer4 p.E224Gfs*4 ENST00000269305 NM_001126112.2 223 ccTGag/ccag 0 Frame_Shift_Del CA 29 TP53 DEL 17 CA - 7518905 7518904 Broad NBPF16 728936 broad.mit.edu GRCh37 1 148753330 148753336 + frameshift_variant Frame_Shift_Del DEL TTATCTT TTATCTT - novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000417839.1:c.1347_1353del p.Asp449GlufsTer6 p.D449Efs*6 ENST00000417839 NM_001102663.1 449 gaTTATCTT/ga 0 Frame_Shift_Del TTATCTT 52 NBPF16 DEL 1 - TTATCTT 147019960 147019954 Broad SLC45A3 85414 broad.mit.edu GRCh37 1 205632218 205632253 + inframe_deletion In_Frame_Del DEL GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC - novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000367145.3:c.666_701del p.Leu223_Ala234del p.L223_A234del ENST00000367145 NM_033102.2 222 gcGCTGGGCCCCACCGAGCCAGCAGAAGGGCTGTCGGCc/gcc 0 In_Frame_Del GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC 42 SLC45A3 DEL 1 - GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC 203898876 203898841 Broad WIZ 58525 broad.mit.edu GRCh37 19 15537868 15537884 + frameshift_variant Frame_Shift_Del DEL CCCCCGGCAGCATCTCC CCCCCGGCAGCATCTCC - novel Unknown TCGA-04-1357-01 TCGA-04-1357-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000263381.7:c.990_1006del p.Glu331ProfsTer9 p.E331Pfs*9 ENST00000263381 NM_021241.2 330 cgGGAGATGCTGCCGGGGGcc/cgcc 0 Frame_Shift_Del CCCCCGGCAGCATCTCC 26 WIZ DEL 19 - CCCCCGGCAGCATCTCC 15398884 15398868 Broad LRRC47 57470 broad.mit.edu GRCh37 1 3697886 3697886 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000378251.1:c.1518G>C p.Met506Ile p.M506I ENST00000378251 NM_020710.2 506 atG/atC 0 Missense_Mutation C 29 LRRC47 SNP 1 C G 3687746 3687746 Broad NPPB 4879 broad.mit.edu GRCh37 1 11918364 11918364 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000376468.3:c.295C>T p.Arg99Trp p.R99W ENST00000376468 NM_002521.2 99 Cgg/Tgg 0 Missense_Mutation G 38 NPPB SNP 1 G A 11840951 11840951 Broad ATP13A2 23400 broad.mit.edu GRCh37 1 17330855 17330855 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000326735.8:c.529G>A p.Glu177Lys p.E177K ENST00000326735 177 Gag/Aag 0 Missense_Mutation C 31 ATP13A2 SNP 1 C T 17203442 17203442 Broad COL16A1 1307 broad.mit.edu GRCh37 1 32126233 32126233 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000373672.3:c.3832C>T p.Pro1278Ser p.P1278S ENST00000373672 NM_001856.3 1278 Cct/Tct 0 Missense_Mutation G 44 COL16A1 SNP 1 G A 31898820 31898820 Broad GRIK3 2899 broad.mit.edu GRCh37 1 37356529 37356529 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000373091.3:c.284C>G p.Thr95Ser p.T95S ENST00000373091 NM_000831.3 95 aCc/aGc 0 Missense_Mutation G 44 GRIK3 SNP 1 G C 37129116 37129116 Broad CCDC30 728621 broad.mit.edu GRCh37 1 43110467 43110467 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000428554.2:c.1879C>T p.Arg627Cys p.R627C ENST00000428554 627 Cgc/Tgc 0 Missense_Mutation C 31 CCDC30 SNP 1 C T 42883054 42883054 Broad GBP3 2635 broad.mit.edu GRCh37 1 89478949 89478949 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000370481.4:c.787C>T p.Gln263Ter p.Q263* ENST00000370481 NM_018284.2 263 Caa/Taa 0 Nonsense_Mutation G 48 GBP3 SNP 1 G A 89251537 89251537 Broad LRRC8B 23507 broad.mit.edu GRCh37 1 90048317 90048317 + synonymous_variant Silent SNP G G T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000330947.2:c.108G>T p.Leu36= p.L36= ENST00000330947 NM_001134476.1 36 ctG/ctT 0 Silent G 46 LRRC8B SNP 1 G T 89820905 89820905 Broad SCAMP3 10067 broad.mit.edu GRCh37 1 155231519 155231519 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000302631.3:c.73G>C p.Ala25Pro p.A25P ENST00000302631 NM_005698.3 25 Gct/Cct 0 Missense_Mutation C 28 SCAMP3 SNP 1 C G 153498143 153498143 Broad C1orf116 79098 broad.mit.edu GRCh37 1 207196403 207196403 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000359470.5:c.706T>C p.Ser236Pro p.S236P ENST00000359470 NM_023938.5 236 Tcc/Ccc 0 Missense_Mutation A 11 C1orf116 SNP 1 A G 205263026 205263026 Broad CHML 1122 broad.mit.edu GRCh37 1 241798044 241798044 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000366553.1:c.1025C>A p.Ser342Ter p.S342* ENST00000366553 NM_001821.3 342 tCa/tAa 0 Nonsense_Mutation G 45 CHML SNP 1 G T 239864667 239864667 Broad OR2M5 127059 broad.mit.edu GRCh37 1 248308552 248308552 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000366476.1:c.103T>A p.Phe35Ile p.F35I ENST00000366476 NM_001004690.1 35 Ttt/Att 0 Missense_Mutation T 56 OR2M5 SNP 1 T A 246375175 246375175 Broad SFMBT2 57713 broad.mit.edu GRCh37 10 7412274 7412274 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000361972.4:c.164C>T p.Ala55Val p.A55V ENST00000361972 NM_001018039.1 55 gCa/gTa 0 Missense_Mutation G 46 SFMBT2 SNP 10 G A 7452280 7452280 Broad ZEB1 6935 broad.mit.edu GRCh37 10 31809186 31809186 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000361642.5:c.926C>T p.Thr309Ile p.T309I ENST00000361642 NM_001174093.1 309 aCa/aTa 0 Missense_Mutation C 17 ZEB1 SNP 10 C T 31849192 31849192 Broad A1CF 29974 broad.mit.edu GRCh37 10 52587996 52587996 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000373995.3:c.688G>C p.Val230Leu p.V230L ENST00000373995 NM_138933.2 230 Gtt/Ctt 0 Missense_Mutation C 20 A1CF SNP 10 C G 52258002 52258002 Broad PCDH15 65217 broad.mit.edu GRCh37 10 55568462 55568462 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000395440.1:c.2150C>G p.Thr717Arg p.T717R ENST00000395440 717 aCa/aGa 0 Missense_Mutation G 48 PCDH15 SNP 10 G C 55238468 55238468 Broad CCDC6 8030 broad.mit.edu GRCh37 10 61574420 61574420 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000263102.6:c.676G>T p.Ala226Ser p.A226S ENST00000263102 NM_005436.4 226 Gct/Tct 0 Missense_Mutation C 28 CCDC6 SNP 10 C A 61244426 61244426 Broad PLAC9 219348 broad.mit.edu GRCh37 10 81904018 81904018 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000372263.3:c.202A>G p.Lys68Glu p.K68E ENST00000372263 NM_001012973.1 68 Aaa/Gaa 0 Missense_Mutation A 9 PLAC9 SNP 10 A G 81893998 81893998 Broad PKD2L1 9033 broad.mit.edu GRCh37 10 102051059 102051059 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000318222.3:c.2006G>C p.Arg669Thr p.R669T ENST00000318222 NM_016112.2 669 aGg/aCg 0 Missense_Mutation C 24 PKD2L1 SNP 10 C G 102041049 102041049 Broad ADD3 120 broad.mit.edu GRCh37 10 111879033 111879033 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000356080.4:c.782C>T p.Ala261Val p.A261V ENST00000356080 NM_016824.3 261 gCc/gTc 0 Missense_Mutation C 26 ADD3 SNP 10 C T 111869023 111869023 Broad CDHR5 53841 broad.mit.edu GRCh37 11 621393 621393 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000358353.3:c.570C>T p.Pro190= p.P190= ENST00000358353 190 ccC/ccT 0 Silent G 43 CDHR5 SNP 11 G A 611393 611393 Broad OR52A4 390053 broad.mit.edu GRCh37 11 5141963 5141963 + downstream_gene_variant 3'Flank SNP G G C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000498233 0 Silent G 41 OR52A4 SNP 11 G C 5098539 5098539 Broad RBM7 10179 broad.mit.edu GRCh37 11 114273569 114273569 + synonymous_variant Silent SNP A A G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000540163.1:c.279A>G p.Gln93= p.Q93= ENST00000540163 NM_001286048.1 93 caA/caG 0 Silent A 3 RBM7 SNP 11 A G 113778779 113778779 Broad CDON 50937 broad.mit.edu GRCh37 11 125875870 125875870 + synonymous_variant Silent SNP A A C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000392693.3:c.1635T>G p.Gly545= p.G545= ENST00000392693 NM_001243597.1 545 ggT/ggG 0 Silent A 2 CDON SNP 11 A C 125381080 125381080 Broad IFLTD1 160492 broad.mit.edu GRCh37 12 25672891 25672891 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000458174.2:c.917G>C p.Trp306Ser p.W306S ENST00000458174 NM_001145728.2 306 tGg/tCg 0 Missense_Mutation C 21 IFLTD1 SNP 12 C G 25564158 25564158 Broad LRRK2 120892 broad.mit.edu GRCh37 12 40704252 40704252 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000298910.7:c.4337C>T p.Pro1446Leu p.P1446L ENST00000298910 NM_198578.3 1446 cCt/cTt 0 Missense_Mutation C 24 LRRK2 SNP 12 C T 38990519 38990519 Broad PTPRB 5787 broad.mit.edu GRCh37 12 71029645 71029645 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000334414.6:c.257G>A p.Arg86His p.R86H ENST00000334414 NM_001109754.2 86 cGc/cAc 0 Missense_Mutation C 27 PTPRB SNP 12 C T 69315912 69315912 Broad LIN7A 8825 broad.mit.edu GRCh37 12 81205398 81205398 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000552864.1:c.548A>G p.Lys183Arg p.K183R ENST00000552864 NM_004664.2 183 aAg/aGg 0 Missense_Mutation T 56 LIN7A SNP 12 T C 79729529 79729529 Broad TMEM132B 114795 broad.mit.edu GRCh37 12 126138808 126138808 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000299308.3:c.2789G>C p.Arg930Thr p.R930T ENST00000299308 NM_052907.2 930 aGg/aCg 0 Missense_Mutation G 35 TMEM132B SNP 12 G C 124704761 124704761 Broad ARHGAP5 394 broad.mit.edu GRCh37 14 32562906 32562906 + synonymous_variant Silent SNP A A C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000345122.3:c.3031A>C p.Arg1011= p.R1011= ENST00000345122 NM_001030055.1 1011 Aga/Cga 0 Silent A 15 ARHGAP5 SNP 14 A C 31632657 31632657 Broad CLEC14A 161198 broad.mit.edu GRCh37 14 38724322 38724322 + synonymous_variant Silent SNP G G C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000342213.2:c.906C>G p.Pro302= p.P302= ENST00000342213 NM_175060.2 302 ccC/ccG 0 Silent G 47 CLEC14A SNP 14 G C 37794073 37794073 Broad MIA2 4253 broad.mit.edu GRCh37 14 39722339 39722339 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000280082.3:c.1851T>A p.Asn617Lys p.N617K ENST00000280082 NM_054024.3 617 aaT/aaA 0 Missense_Mutation T 52 MIA2 SNP 14 T A 38792090 38792090 Broad SIX1 6495 broad.mit.edu GRCh37 14 61113058 61113058 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000247182.6:c.798G>T p.Gln266His p.Q266H ENST00000247182 NM_005982.3 266 caG/caT 0 Missense_Mutation C 28 SIX1 SNP 14 C A 60182811 60182811 Broad SLC10A1 6554 broad.mit.edu GRCh37 14 70245211 70245211 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000216540.4:c.782A>C p.Gln261Pro p.Q261P ENST00000216540 NM_003049.3 261 cAa/cCa 0 Missense_Mutation T 63 SLC10A1 SNP 14 T G 69314964 69314964 Broad PPP1R13B 23368 broad.mit.edu GRCh37 14 104219373 104219373 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000202556.9:c.792G>A p.Ala264= p.A264= ENST00000202556 NM_015316.2 264 gcG/gcA 0 Silent C 23 PPP1R13B SNP 14 C T 103289126 103289126 Broad TP53BP1 7158 broad.mit.edu GRCh37 15 43724582 43724582 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000382044.4:c.3485T>G p.Met1162Arg p.M1162R ENST00000382044 NM_001141980.1 1162 aTg/aGg 0 Missense_Mutation A 8 TP53BP1 SNP 15 A C 41511874 41511874 Broad TEKT5 146279 broad.mit.edu GRCh37 16 10721464 10721464 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000283025.2:c.1434C>T p.Thr478= p.T478= ENST00000283025 NM_144674.1 478 acC/acT 0 Silent G 43 TEKT5 SNP 16 G A 10628965 10628965 Broad REXO5 81691 broad.mit.edu GRCh37 16 20833199 20833199 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000261377.6:c.591G>C p.Met197Ile p.M197I ENST00000261377 NM_030941.2 197 atG/atC 0 Missense_Mutation G 45 LOC81691 SNP 16 G C 20740700 20740700 Broad GPR97 222487 broad.mit.edu GRCh37 16 57718105 57718105 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000333493.4:c.1143G>T p.Lys381Asn p.K381N ENST00000333493 NM_170776.4 381 aaG/aaT 0 Missense_Mutation G 34 GPR97 SNP 16 G T 56275606 56275606 Broad ZNF594 84622 broad.mit.edu GRCh37 17 5086301 5086301 + synonymous_variant Silent SNP T T A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000399604.4:c.1251A>T p.Ser417= p.S417= ENST00000399604 417 tcA/tcT 0 Silent T 55 ZNF594 SNP 17 T A 5027025 5027025 Broad DLG4 1742 broad.mit.edu GRCh37 17 7100125 7100125 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000399510.2:c.1163G>A p.Gly388Asp p.G388D ENST00000399510 NM_001365.3 388 gGc/gAc 0 Missense_Mutation C 26 DLG4 SNP 17 C T 7040849 7040849 Broad TP53 7157 broad.mit.edu GRCh37 17 7577141 7577141 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.797G>T p.Gly266Val p.G266V ENST00000269305 NM_001126112.2 266 gGa/gTa 0 Missense_Mutation C 30 TP53 SNP 17 C A 7517866 7517866 Broad KRT25 147183 broad.mit.edu GRCh37 17 38906696 38906696 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000312150.4:c.1111G>A p.Asp371Asn p.D371N ENST00000312150 NM_181534.3 371 Gac/Aac 0 Missense_Mutation C 30 KRT25 SNP 17 C T 36160222 36160222 Broad GOSR2 9570 broad.mit.edu GRCh37 17 45012463 45012463 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000225567.4:c.405C>T p.Asn135= p.N135= ENST00000225567 NM_054022.2 135 aaC/aaT 0 Silent C 19 GOSR2 SNP 17 C T 42367462 42367462 Broad MIB1 57534 broad.mit.edu GRCh37 18 19321695 19321695 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000261537.6:c.151G>C p.Val51Leu p.V51L ENST00000261537 NM_020774.3 51 Gtg/Ctg 0 Missense_Mutation G 36 MIB1 SNP 18 G C 17575693 17575693 Broad RTTN 25914 broad.mit.edu GRCh37 18 67759398 67759398 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000255674.6:c.4091C>G p.Thr1364Ser p.T1364S ENST00000255674 NM_173630.3 1364 aCt/aGt 0 Missense_Mutation G 36 RTTN SNP 18 G C 65910378 65910378 Broad COL5A3 50509 broad.mit.edu GRCh37 19 10084882 10084882 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000264828.3:c.3469G>A p.Gly1157Arg p.G1157R ENST00000264828 NM_015719.3 1157 Gga/Aga 0 Missense_Mutation C 22 COL5A3 SNP 19 C T 9945882 9945882 Broad ZNF468 90333 broad.mit.edu GRCh37 19 53344346 53344346 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000595646.1:c.1201C>G p.His401Asp p.H401D ENST00000595646 401 Cat/Gat 0 Missense_Mutation G 48 ZNF468 SNP 19 G C 58036158 58036158 Broad ZNF321P 94100 broad.mit.edu GRCh37 19 53432565 53432565 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000391777.3:c.293T>A p.Ile98Asn p.I98N ENST00000391777 98 aTt/aAt 0 Missense_Mutation A 4 ZNF321 SNP 19 A T 58124377 58124377 Broad BIRC6 57448 broad.mit.edu GRCh37 2 32640420 32640420 + stop_gained Nonsense_Mutation SNP C C G rs3769599 byCluster;byFrequency;byHapMap TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000421745.2:c.2061C>G p.Tyr687Ter p.Y687* ENST00000421745 NM_016252.3 687 taC/taG 0 Nonsense_Mutation C 17 BIRC6 SNP 2 C G 32493924 32493924 Broad GLI2 2736 broad.mit.edu GRCh37 2 121736046 121736046 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000452319.1:c.1405G>C p.Glu469Gln p.E469Q ENST00000452319 469 Gag/Cag 0 Missense_Mutation G 41 GLI2 SNP 2 G C 121452516 121452516 Broad ZEB2 9839 broad.mit.edu GRCh37 2 145161613 145161613 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000558170.2:c.677T>C p.Leu226Pro p.L226P ENST00000558170 NM_014795.3 226 cTg/cCg 0 Missense_Mutation A 7 ZEB2 SNP 2 A G 144878083 144878083 Broad NCAM2 4685 broad.mit.edu GRCh37 21 22656721 22656721 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000400546.1:c.337+1G>A p.X113_splice ENST00000400546 NM_004540.3 0 Splice_Site_SNP G 40 NCAM2 SNP 21 G A 21578592 21578592 Broad SLC5A3 6526 broad.mit.edu GRCh37 21 35469095 35469095 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000381151.3:c.1598C>A p.Thr533Lys p.T533K ENST00000381151 533 aCa/aAa 0 Missense_Mutation C 17 SLC5A3 SNP 21 C A 34390965 34390965 Broad TNRC6B 23112 broad.mit.edu GRCh37 22 40661483 40661483 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000454349.2:c.1249C>G p.Arg417Gly p.R417G ENST00000454349 NM_001162501.1 417 Cga/Gga 0 Missense_Mutation C 31 TNRC6B SNP 22 C G 38991429 38991429 Broad ACO2 50 broad.mit.edu GRCh37 22 41922335 41922335 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000216254.4:c.1831G>A p.Asp611Asn p.D611N ENST00000216254 NM_001098.2 611 Gat/Aat 0 Missense_Mutation G 41 ACO2 SNP 22 G A 40252281 40252281 Broad SETD5 55209 broad.mit.edu GRCh37 3 9512490 9512490 + synonymous_variant Silent SNP A A G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000402198.1:c.3072A>G p.Gly1024= p.G1024= ENST00000402198 NM_001080517.1 1024 ggA/ggG 0 Silent A 12 SETD5 SNP 3 A G 9487490 9487490 Broad EPM2AIP1 9852 broad.mit.edu GRCh37 3 37034557 37034557 + synonymous_variant Silent SNP C C G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000322716.5:c.12G>C p.Thr4= p.T4= ENST00000322716 NM_014805.3 4 acG/acC 0 Silent C 27 EPM2AIP1 SNP 3 C G 37009561 37009561 Broad TGM4 7047 broad.mit.edu GRCh37 3 44952866 44952866 + synonymous_variant Silent SNP G G T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000296125.4:c.1881G>T p.Leu627= p.L627= ENST00000296125 NM_003241.3 627 ctG/ctT 0 Silent G 47 TGM4 SNP 3 G T 44927870 44927870 Broad CD200R1 131450 broad.mit.edu GRCh37 3 112648325 112648325 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000308611.3:c.232A>G p.Thr78Ala p.T78A ENST00000308611 NM_138806.3 78 Aca/Gca 0 Missense_Mutation T 57 CD200R1 SNP 3 T C 114131015 114131015 Broad DCUN1D1 54165 broad.mit.edu GRCh37 3 182681755 182681755 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000292782.4:c.303T>G p.Ser101Arg p.S101R ENST00000292782 NM_020640.2 101 agT/agG 0 Missense_Mutation A 6 DCUN1D1 SNP 3 A C 184164449 184164449 Broad PI4K2B 55300 broad.mit.edu GRCh37 4 25262149 25262149 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000264864.6:c.914G>C p.Arg305Thr p.R305T ENST00000264864 NM_018323.3 305 aGg/aCg 0 Missense_Mutation G 35 PI4K2B SNP 4 G C 24871247 24871247 Broad FAM114A1 92689 broad.mit.edu GRCh37 4 38907438 38907438 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000358869.2:c.613T>G p.Ser205Ala p.S205A ENST00000358869 NM_138389.2 205 Tct/Gct 0 Missense_Mutation T 54 FAM114A1 SNP 4 T G 38583833 38583833 Broad CCNI 10983 broad.mit.edu GRCh37 4 77976394 77976394 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000237654.4:c.599C>G p.Ser200Cys p.S200C ENST00000237654 NM_006835.2 200 tCc/tGc 0 Missense_Mutation G 41 CCNI SNP 4 G C 78195418 78195418 Broad NAA11 84779 broad.mit.edu GRCh37 4 80246442 80246442 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000286794.4:c.590C>T p.Pro197Leu p.P197L ENST00000286794 NM_032693.2 197 cCg/cTg 0 Missense_Mutation G 39 NAA11 SNP 4 G A 80465466 80465466 Broad HSD17B11 51170 broad.mit.edu GRCh37 4 88278431 88278431 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000358290.4:c.695G>T p.Ser232Ile p.S232I ENST00000358290 NM_016245.3 232 aGt/aTt 0 Missense_Mutation C 24 HSD17B11 SNP 4 C A 88497455 88497455 Broad ALPK1 80216 broad.mit.edu GRCh37 4 113352995 113352995 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000458497.1:c.2292G>A p.Glu764= p.E764= ENST00000458497 NM_001102406.1 764 gaG/gaA 0 Silent G 34 ALPK1 SNP 4 G A 113572444 113572444 Broad CDH9 1007 broad.mit.edu GRCh37 5 26988417 26988417 + synonymous_variant Silent SNP T T C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000231021.4:c.24A>G p.Pro8= p.P8= ENST00000231021 NM_016279.3 8 ccA/ccG 0 Silent T 51 CDH9 SNP 5 T C 27024174 27024174 Broad DHX29 54505 broad.mit.edu GRCh37 5 54593190 54593190 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000251636.5:c.298G>C p.Gly100Arg p.G100R ENST00000251636 NM_019030.2 100 Gga/Cga 0 Missense_Mutation C 21 DHX29 SNP 5 C G 54628947 54628947 Broad ANKRD32 84250 broad.mit.edu GRCh37 5 94022410 94022410 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000265140.5:c.2108C>G p.Ser703Cys p.S703C ENST00000265140 NM_032290.3 703 tCt/tGt 0 Missense_Mutation C 32 ANKRD32 SNP 5 C G 94048166 94048166 Broad FBXL21 26223 broad.mit.edu GRCh37 5 135273113 135273113 + splice_acceptor_variant,non_coding_transcript_variant Splice_Site SNP G G A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000478939.1:n.167-1G>A p.X56_splice ENST00000478939 0 Splice_Site_SNP G 35 FBXL21 SNP 5 G A 135301012 135301012 Broad PCDHA2 56146 broad.mit.edu GRCh37 5 140176193 140176193 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000526136.1:c.1644C>T p.Asn548= p.N548= ENST00000526136 NM_018905.2 548 aaC/aaT 0 Silent C 19 PCDHA2 SNP 5 C T 140156377 140156377 Broad PCDHA9 9752 broad.mit.edu GRCh37 5 140229031 140229031 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000532602.1:c.951G>T p.Lys317Asn p.K317N ENST00000532602 NM_031857.1 317 aaG/aaT 0 Missense_Mutation G 33 PCDHA9 SNP 5 G T 140209215 140209215 Broad PCDHB13 56123 broad.mit.edu GRCh37 5 140595953 140595954 + missense_variant Missense_Mutation DNP TG TG CT novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000341948.4:c.2258_2259delinsCT p.Val753Ala p.V753A ENST00000341948 NM_018933.2 753 gTG/gCT 0 Missense_Mutation TG 59 PCDHB13 DNP 5 TG CT 140576138 140576137 Broad RARS 5917 broad.mit.edu GRCh37 5 167929031 167929031 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000231572.3:c.978G>A p.Leu326= p.L326= ENST00000231572 NM_002887.3 326 ttG/ttA 0 Silent G 47 RARS SNP 5 G A 167861609 167861609 Broad CUL9 23113 broad.mit.edu GRCh37 6 43174143 43174143 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000252050.4:c.5107C>T p.Arg1703Cys p.R1703C ENST00000252050 NM_015089.2 1703 Cgc/Tgc 0 Missense_Mutation C 19 CUL9 SNP 6 C T 43282121 43282121 Broad CUL9 23113 broad.mit.edu GRCh37 6 43174215 43174215 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000252050.4:c.5179G>T p.Ala1727Ser p.A1727S ENST00000252050 NM_015089.2 1727 Gcc/Tcc 0 Missense_Mutation G 46 CUL9 SNP 6 G T 43282193 43282193 Broad BAI3 577 broad.mit.edu GRCh37 6 69723982 69723982 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000370598.1:c.1982G>T p.Trp661Leu p.W661L ENST00000370598 NM_001704.2 661 tGg/tTg 0 Missense_Mutation G 47 BAI3 SNP 6 G T 69780703 69780703 Broad PRDM1 639 broad.mit.edu GRCh37 6 106553119 106553119 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000369096.4:c.1084C>T p.Pro362Ser p.P362S ENST00000369096 NM_001198.3 362 Cct/Tct 0 Missense_Mutation C 22 PRDM1 SNP 6 C T 106659812 106659812 Broad ARHGAP18 93663 broad.mit.edu GRCh37 6 129905237 129905237 + synonymous_variant Silent SNP C C G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000368149.2:c.1734G>C p.Val578= p.V578= ENST00000368149 NM_033515.2 578 gtG/gtC 0 Silent C 29 ARHGAP18 SNP 6 C G 129946930 129946930 Broad IL20RA 53832 broad.mit.edu GRCh37 6 137322974 137322974 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000316649.5:c.1383G>A p.Ala461= p.A461= ENST00000316649 NM_014432.3 461 gcG/gcA 0 Silent C 27 IL20RA SNP 6 C T 137364667 137364667 Broad CNTNAP2 26047 broad.mit.edu GRCh37 7 146829419 146829419 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000361727.3:c.1166G>A p.Arg389Gln p.R389Q ENST00000361727 NM_014141.5 389 cGg/cAg 0 Missense_Mutation G 39 CNTNAP2 SNP 7 G A 146460352 146460352 Broad CSMD3 114788 broad.mit.edu GRCh37 8 114186094 114186094 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000297405.5:c.566T>C p.Leu189Ser p.L189S ENST00000297405 NM_198123.1 189 tTa/tCa 0 Missense_Mutation A 13 CSMD3 SNP 8 A G 114255270 114255270 Broad KLHL9 55958 broad.mit.edu GRCh37 9 21333629 21333629 + synonymous_variant Silent SNP A A G novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000359039.4:c.1230T>C p.Ala410= p.A410= ENST00000359039 410 gcT/gcC 0 Silent A 7 KLHL9 SNP 9 A G 21323629 21323629 Broad KIAA2022 340533 broad.mit.edu GRCh37 X 73960335 73960335 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000055682.6:c.4057A>G p.Ile1353Val p.I1353V ENST00000055682 NM_001008537.2 1353 Ata/Gta 0 Missense_Mutation T 51 KIAA2022 SNP 23 T C 73877060 73877060 Broad OCRL 4952 broad.mit.edu GRCh37 X 128724128 128724128 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2352-01 TCGA-59-2352-10 Unknown Unknown Unknown x x x ENST00000371113.4:c.2587C>T p.Leu863Phe p.L863F ENST00000371113 NM_000276.3 863 Ctc/Ttc 0 Missense_Mutation C 32 OCRL SNP 23 C T 128551809 128551809 Broad LPCAT1 79888 genome.wustl.edu GRCh37 5 1479751 1479751 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000283415.3:c.801C>T p.Asn267= p.N267= ENST00000283415 NM_024830.3 267 aaC/aaT 0 Silent G 44 LPCAT1 SNP 5 G A 1532751 1532751 WashU OR51G1 79324 genome.wustl.edu GRCh37 11 4944749 4944749 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321961.2:c.821T>C p.Val274Ala p.V274A ENST00000321961 NM_001005237.1 274 gTa/gCa 0 Missense_Mutation A 14 OR51G1 SNP 11 A G 4901325 4901325 WashU FERMT1 55612 genome.wustl.edu GRCh37 20 6057909 6057909 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000217289.4:c.1945G>A p.Gly649Ser p.G649S ENST00000217289 NM_017671.4 649 Ggc/Agc 0 Missense_Mutation C 23 FERMT1 SNP 20 C T 6005909 6005909 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578394 7578394 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.536A>G p.His179Arg p.H179R ENST00000269305 NM_001126112.2 179 cAt/cGt 0 Missense_Mutation T 51 TP53 SNP 17 T C 7519119 7519119 WashU KCNAB3 9196 genome.wustl.edu GRCh37 17 7827515 7827515 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303790.2:c.780G>A p.Leu260= p.L260= ENST00000303790 NM_004732.3 260 ctG/ctA 0 Silent C 17 KCNAB3 SNP 17 C T 7768240 7768240 WashU TAF1B 9014 genome.wustl.edu GRCh37 2 10073948 10073948 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263663.5:c.1602T>A p.Asn534Lys p.N534K ENST00000263663 NM_005680.2 534 aaT/aaA 0 Missense_Mutation T 52 TAF1B SNP 2 T A 9991399 9991399 WashU NPIPB1P genome.wustl.edu GRCh37 18 11629696 11629696 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000547442.1:n.274G>A *92* ENST00000547442 0 Silent C 19 LOC729602 SNP 18 C T 11619696 11619696 WashU MAST1 22983 genome.wustl.edu GRCh37 19 12969432 12969432 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000251472.4:c.1245G>C p.Gln415His p.Q415H ENST00000251472 NM_014975.2 415 caG/caC 0 Missense_Mutation G 33 MAST1 SNP 19 G C 12830432 12830432 WashU DLC1 10395 genome.wustl.edu GRCh37 8 13251203 13251203 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276297.4:c.1174-1G>A p.X392_splice ENST00000276297 NM_182643.2 0 Splice_Site_SNP C 24 DLC1 SNP 8 C T 13295574 13295574 WashU RP11-454P7.1 genome.wustl.edu GRCh37 18 15271461 15271461 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000545779.2:n.1514T>C *505* ENST00000545779 0 Silent T 49 ENSG00000184624 SNP 18 T C 15261461 15261461 WashU C18orf8 29919 genome.wustl.edu GRCh37 18 21100208 21100208 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269221.3:c.892G>A p.Gly298Ser p.G298S ENST00000269221 NM_013326.4 298 Ggc/Agc 0 Missense_Mutation G 39 C18orf8 SNP 18 G A 19354206 19354206 WashU SPECC1 92521 genome.wustl.edu GRCh37 17 20108296 20108296 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261503.5:c.934T>C p.Ser312Pro p.S312P ENST00000261503 NM_001033553.2 312 Tca/Cca 0 Missense_Mutation T 50 CYTSB SNP 17 T C 20048888 20048888 WashU TMEM159 57146 genome.wustl.edu GRCh37 16 21190856 21190856 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000233047.4:c.465C>T p.Phe155= p.F155= ENST00000233047 155 ttC/ttT 0 Silent C 31 TMEM159 SNP 16 C T 21098357 21098357 WashU ZNF493 284443 genome.wustl.edu GRCh37 19 21587960 21587960 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392288.2:c.60A>G p.Ile20Met p.I20M ENST00000392288 NM_001076678.2 20 atA/atG 0 Missense_Mutation A 15 ZNF493 SNP 19 A G 21379800 21379800 WashU TRDC genome.wustl.edu GRCh37 14 22932141 22932141 + synonymous_variant Silent SNP A A C novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390477.2:c.218A>C p.Ser73= p.S73= ENST00000390477 73 tcA/tcC 0 Missense_Mutation A 7 TRA@ SNP 14 A C 22001981 22001981 WashU LTN1 26046 genome.wustl.edu GRCh37 21 30303491 30303491 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389194.2:c.5362C>A p.His1788Asn p.H1788N ENST00000389194 NM_015565.2 1788 Cat/Aat 0 Missense_Mutation G 47 RNF160 SNP 21 G T 29225362 29225362 WashU NR0B1 190 genome.wustl.edu GRCh37 X 30326341 30326341 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378970.4:c.1140C>T p.Tyr380= p.Y380= ENST00000378970 NM_000475.4 380 taC/taT 0 Silent G 44 NR0B1 SNP 23 G A 30236262 30236262 WashU QSER1 79832 genome.wustl.edu GRCh37 11 32997955 32997955 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399302.2:c.5143T>C p.Trp1715Arg p.W1715R ENST00000399302 NM_001076786.1 1715 Tgg/Cgg 0 Missense_Mutation T 51 QSER1 SNP 11 T C 32954531 32954531 WashU BBS9 27241 genome.wustl.edu GRCh37 7 33397562 33397562 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000242067.6:c.1648A>G p.Ile550Val p.I550V ENST00000242067 NM_198428.2 550 Att/Gtt 0 Missense_Mutation A 16 BBS9 SNP 7 A G 33364087 33364087 WashU ANLN 54443 genome.wustl.edu GRCh37 7 36466558 36466558 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265748.2:c.2804G>A p.Arg935Gln p.R935Q ENST00000265748 NM_018685.2 935 cGa/cAa 0 Missense_Mutation G 37 ANLN SNP 7 G A 36433083 36433083 WashU TSHZ3 57616 genome.wustl.edu GRCh37 19 31770078 31770078 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000240587.4:c.621C>T p.Ile207= p.I207= ENST00000240587 NM_020856.2 207 atC/atT 0 Silent G 33 TSHZ3 SNP 19 G A 36461918 36461918 WashU PTPRT 11122 genome.wustl.edu GRCh37 20 40727184 40727184 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373198.4:c.3780G>A p.Lys1260= p.K1260= ENST00000373198 NM_133170.3 1260 aaG/aaA 0 Silent C 28 PTPRT SNP 20 C T 40160598 40160598 WashU IFT52 51098 genome.wustl.edu GRCh37 20 42271264 42271264 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373030.3:c.1266G>T p.Gln422His p.Q422H ENST00000373030 NM_016004.2 422 caG/caT 0 Missense_Mutation G 35 IFT52 SNP 20 G T 41704678 41704678 WashU COL6A1 1291 genome.wustl.edu GRCh37 21 47422537 47422537 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361866.3:c.2347C>G p.Arg783Gly p.R783G ENST00000361866 NM_001848.2 783 Cgg/Ggg 0 Missense_Mutation C 23 COL6A1 SNP 21 C G 46246965 46246965 WashU HMGCR 3156 genome.wustl.edu GRCh37 5 74646662 74646662 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287936.4:c.829C>G p.Pro277Ala p.P277A ENST00000287936 NM_000859.2 277 Cct/Gct 0 Missense_Mutation C 30 HMGCR SNP 5 C G 74682418 74682418 WashU PPBP 5473 genome.wustl.edu GRCh37 4 74853703 74853703 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296028.3:c.118C>A p.Gln40Lys p.Q40K ENST00000296028 NM_002704.3 40 Caa/Aaa 0 Missense_Mutation G 48 PPBP SNP 4 G T 75072567 75072567 WashU DLG2 1740 genome.wustl.edu GRCh37 11 83182725 83182725 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376104.2:c.2390G>A p.Arg797Gln p.R797Q ENST00000376104 NM_001142699.1 797 cGg/cAg 0 Missense_Mutation C 23 DLG2 SNP 11 C T 82860373 82860373 WashU LRRIQ1 84125 genome.wustl.edu GRCh37 12 85518019 85518019 + synonymous_variant Silent SNP T T C novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393217.2:c.3729T>C p.Thr1243= p.T1243= ENST00000393217 NM_001079910.1 1243 acT/acC 0 Silent T 54 LRRIQ1 SNP 12 T C 84042150 84042150 WashU GRID2 2895 genome.wustl.edu GRCh37 4 94006418 94006418 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282020.4:c.517G>T p.Asp173Tyr p.D173Y ENST00000282020 NM_001510.2 173 Gat/Tat 0 Missense_Mutation G 45 GRID2 SNP 4 G T 94225441 94225441 WashU HAL 3034 genome.wustl.edu GRCh37 12 96370239 96370239 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261208.3:c.1801G>C p.Glu601Gln p.E601Q ENST00000261208 NM_002108.3 601 Gag/Cag 0 Missense_Mutation C 31 HAL SNP 12 C G 94894370 94894370 WashU SNRNP200 23020 genome.wustl.edu GRCh37 2 96952745 96952745 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000323853.5:c.3638A>G p.Lys1213Arg p.K1213R ENST00000323853 NM_014014.4 1213 aAg/aGg 0 Missense_Mutation T 56 SNRNP200 SNP 2 T C 96316472 96316472 WashU IGHV4-31 genome.wustl.edu GRCh37 14 106805439 106805439 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000438142.2:c.124A>G p.Thr42Ala p.T42A ENST00000438142 42 Act/Gct 0 Missense_Mutation T 57 ENSG00000211954 SNP 14 T C 105876484 105876484 WashU WDR96 80217 genome.wustl.edu GRCh37 10 105927375 105927375 + splice_region_variant,intron_variant Splice_Region SNP G G C novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357060.3:c.2808+4C>G p.X936_splice ENST00000357060 NM_025145.5 0 Missense_Mutation G 36 C10orf79 SNP 10 G C 105917365 105917365 WashU SIDT1 54847 genome.wustl.edu GRCh37 3 113329877 113329877 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264852.4:c.1743C>T p.Ile581= p.I581= ENST00000264852 NM_017699.2 581 atC/atT 0 Silent C 31 SIDT1 SNP 3 C T 114812567 114812567 WashU GLI2 2736 genome.wustl.edu GRCh37 2 121684976 121684976 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000452319.1:c.188C>T p.Pro63Leu p.P63L ENST00000452319 63 cCg/cTg 0 Missense_Mutation C 23 GLI2 SNP 2 C T 121401446 121401446 WashU CRTAM 56253 genome.wustl.edu GRCh37 11 122726478 122726478 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000227348.4:c.566G>T p.Gly189Val p.G189V ENST00000227348 NM_019604.2 189 gGc/gTc 0 Missense_Mutation G 42 CRTAM SNP 11 G T 122231688 122231688 WashU LAMA2 3908 genome.wustl.edu GRCh37 6 129802420 129802420 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000421865.2:c.7585G>A p.Val2529Ile p.V2529I ENST00000421865 NM_001079823.1 2529 Gtt/Att 0 Missense_Mutation G 36 LAMA2 SNP 6 G A 129844113 129844113 WashU L3MBTL3 84456 genome.wustl.edu GRCh37 6 130376384 130376384 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000529410.1:c.651G>A p.Ser217= p.S217= ENST00000529410 217 tcG/tcA 0 Silent G 39 L3MBTL3 SNP 6 G A 130418077 130418077 WashU PCDH1 5097 genome.wustl.edu GRCh37 5 141244788 141244788 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287008.3:c.1108C>T p.Arg370Cys p.R370C ENST00000287008 NM_032420.3 370 Cgt/Tgt 0 Missense_Mutation G 39 PCDH1 SNP 5 G A 141224972 141224972 WashU MED12L 116931 genome.wustl.edu GRCh37 3 151078293 151078293 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000474524.1:c.2752C>T p.Pro918Ser p.P918S ENST00000474524 NM_053002.4 918 Ccc/Tcc 0 Missense_Mutation C 22 MED12L SNP 3 C T 152560983 152560983 WashU HK3 3101 genome.wustl.edu GRCh37 5 176311063 176311063 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000292432.5:c.1930C>T p.Arg644Trp p.R644W ENST00000292432 NM_002115.2 644 Cgg/Tgg 0 Missense_Mutation G 38 HK3 SNP 5 G A 176243669 176243669 WashU GPR158 57512 genome.wustl.edu GRCh37 10 25887877 25887877 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-04-1346-01 TCGA-04-1346-11 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000376351.3:c.3322C>T p.Arg1108Cys p.R1108C ENST00000376351 NM_020752.2 1108 Cgt/Tgt 0 Missense_Mutation C 31 GPR158 SNP 10 C T 25927883 25927883 WashU SLIT1 6585 genome.wustl.edu GRCh37 10 98802721 98802721 + missense_variant Missense_Mutation SNP G G C Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000266058.4:c.2101C>G p.Pro701Ala p.P701A ENST00000266058 NM_003061.2 701 Cct/Gct 0 Missense_Mutation G 43 SLIT1 SNP 10 G C 98792711 98792711 WashU FSHB 2488 genome.wustl.edu GRCh37 11 30255218 30255218 + synonymous_variant Silent SNP T T C novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000417547.1:c.261T>C p.His87= p.H87= ENST00000417547 NM_001018080.1 87 caT/caC 0 Silent T 51 FSHB SNP 11 T C 30211794 30211794 WashU CREB3L1 90993 genome.wustl.edu GRCh37 11 46332692 46332692 + synonymous_variant Silent SNP G G A Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000529193.1:c.705G>A p.Ala235= p.A235= ENST00000529193 NM_052854.3 235 gcG/gcA 0 Silent G 38 CREB3L1 SNP 11 G A 46289268 46289268 WashU GRB7 2886 genome.wustl.edu GRCh37 17 37903121 37903121 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000445327.2:c.1639C>T p.Arg547Cys p.R547C ENST00000445327 NM_001242442.1 547 Cgc/Tgc 0 Missense_Mutation C 27 GRB7 SNP 17 C T 35156647 35156647 WashU ITIH3 3699 genome.wustl.edu GRCh37 3 52833830 52833830 + missense_variant Missense_Mutation SNP T T C Unknown TCGA-04-1346-01 TCGA-04-1346-11 T T T C T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000449956.2:c.968T>C p.Ile323Thr p.I323T ENST00000449956 NM_002217.3 323 aTc/aCc 0 Missense_Mutation T 50 ITIH3 SNP 3 T C 52808870 52808870 WashU LRRC16A 55604 genome.wustl.edu GRCh37 6 25606436 25606436 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-04-1346-01 TCGA-04-1346-11 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000329474.6:c.3782C>T p.Ser1261Phe p.S1261F ENST00000329474 NM_001173977.1 1261 tCc/tTc 0 Missense_Mutation C 30 LRRC16A SNP 6 C T 25714415 25714415 WashU DBH 1621 genome.wustl.edu GRCh37 9 136507529 136507529 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393056.2:c.687G>A p.Thr229= p.T229= ENST00000393056 NM_000787.3 229 acG/acA 0 Silent G 40 DBH SNP 9 G A 135497350 135497350 WashU NOTCH3 4854 genome.wustl.edu GRCh37 19 15298004 15298004 + synonymous_variant Silent SNP G G A Unknown TCGA-04-1346-01 TCGA-04-1346-11 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000263388.2:c.1752C>T p.Asp584= p.D584= ENST00000263388 NM_000435.2 584 gaC/gaT 0 Silent G 40 NOTCH3 SNP 19 G A 15159004 15159004 WashU APLP1 333 genome.wustl.edu GRCh37 19 36370049 36370049 + missense_variant Missense_Mutation SNP T T A Unknown TCGA-04-1346-01 TCGA-04-1346-11 T T T A T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000221891.4:c.1787T>A p.Leu596His p.L596H ENST00000221891 NM_001024807.1 596 cTc/cAc 0 Missense_Mutation T 54 APLP1 SNP 19 T A 41061889 41061889 WashU FAM73A 374986 broad.mit.edu GRCh37 1 78309037 78309037 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000370791.3:c.941G>T p.Gly314Val p.G314V ENST00000370791 NM_001270384.1 314 gGc/gTc 0 Missense_Mutation G 42 FAM73A SNP 1 G T 78081625 78081625 Broad TCHHL1 126637 broad.mit.edu GRCh37 1 152059451 152059451 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000368806.1:c.707A>C p.Asp236Ala p.D236A ENST00000368806 NM_001008536.1 236 gAt/gCt 0 Missense_Mutation T 50 TCHHL1 SNP 1 T G 150326075 150326075 Broad LZTS2 84445 broad.mit.edu GRCh37 10 102763470 102763470 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000370220.1:c.615T>A p.Phe205Leu p.F205L ENST00000370220 205 ttT/ttA 0 Missense_Mutation T 61 LZTS2 SNP 10 T A 102753460 102753460 Broad MS4A8 83661 broad.mit.edu GRCh37 11 60470943 60470943 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000300226.2:c.312C>G p.Tyr104Ter p.Y104* ENST00000300226 NM_031457.1 104 taC/taG 0 Nonsense_Mutation C 19 MS4A8B SNP 11 C G 60227519 60227519 Broad OVCH1 341350 broad.mit.edu GRCh37 12 29630329 29630329 + synonymous_variant Silent SNP T T C novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000318184.5:c.1191A>G p.Glu397= p.E397= ENST00000318184 NM_183378.2 397 gaA/gaG 0 Silent T 56 OVCH1 SNP 12 T C 29521596 29521596 Broad ALG10B 144245 broad.mit.edu GRCh37 12 38710774 38710774 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000308742.4:c.79T>A p.Phe27Ile p.F27I ENST00000308742 NM_001013620.3 27 Ttc/Atc 0 Missense_Mutation T 56 ALG10B SNP 12 T A 36997041 36997041 Broad MON2 23041 broad.mit.edu GRCh37 12 62972241 62972241 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000393632.2:c.4531C>A p.Leu1511Ile p.L1511I ENST00000393632 NM_001278472.1 1511 Ctc/Atc 0 Missense_Mutation C 32 MON2 SNP 12 C A 61258508 61258508 Broad NUAK1 9891 broad.mit.edu GRCh37 12 106461475 106461475 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000261402.2:c.1091G>A p.Arg364Gln p.R364Q ENST00000261402 NM_014840.2 364 cGg/cAg 0 Missense_Mutation C 23 NUAK1 SNP 12 C T 104985605 104985605 Broad ACACB 32 broad.mit.edu GRCh37 12 109604778 109604778 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000338432.7:c.766G>A p.Gly256Arg p.G256R ENST00000338432 256 Ggg/Agg 0 Missense_Mutation G 43 ACACB SNP 12 G A 108089161 108089161 Broad TPP2 7174 broad.mit.edu GRCh37 13 103330652 103330652 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000376065.4:c.3736T>G p.Tyr1246Asp p.Y1246D ENST00000376065 NM_003291.2 1246 Tat/Gat 0 Missense_Mutation T 61 TPP2 SNP 13 T G 102128653 102128653 Broad PRKD1 5587 broad.mit.edu GRCh37 14 30100191 30100191 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000331968.5:c.1429G>A p.Val477Ile p.V477I ENST00000331968 NM_002742.2 477 Gta/Ata 0 Missense_Mutation C 20 PRKD1 SNP 14 C T 29169942 29169942 Broad HSPA2 3306 broad.mit.edu GRCh37 14 65008786 65008786 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000247207.6:c.1219G>A p.Glu407Lys p.E407K ENST00000247207 NM_021979.3 407 Gag/Aag 0 Missense_Mutation G 37 HSPA2 SNP 14 G A 64078539 64078539 Broad TMEM63C 57156 broad.mit.edu GRCh37 14 77715782 77715782 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000298351.4:c.2019C>G p.Phe673Leu p.F673L ENST00000298351 NM_020431.2 673 ttC/ttG 0 Missense_Mutation C 32 TMEM63C SNP 14 C G 76785535 76785535 Broad TAOK1 57551 broad.mit.edu GRCh37 17 27869612 27869612 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000261716.3:c.2578C>T p.Arg860Cys p.R860C ENST00000261716 NM_020791.2 860 Cgc/Tgc 0 Missense_Mutation C 27 TAOK1 SNP 17 C T 24893738 24893738 Broad NF1 4763 broad.mit.edu GRCh37 17 29654605 29654605 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000358273.4:c.5357C>A p.Ser1786Ter p.S1786* ENST00000358273 NM_001042492.2 1786 tCg/tAg 0 Nonsense_Mutation C 31 NF1 SNP 17 C A 26678731 26678731 Broad TOP2A 7153 broad.mit.edu GRCh37 17 38546267 38546267 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000423485.1:c.4417G>T p.Asp1473Tyr p.D1473Y ENST00000423485 NM_001067.3 1473 Gat/Tat 0 Missense_Mutation C 29 TOP2A SNP 17 C A 35799793 35799793 Broad ABHD17A 81926 broad.mit.edu GRCh37 19 1877545 1877545 + synonymous_variant Silent SNP G G A novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000250974.9:c.822C>T p.Pro274= p.P274= ENST00000250974 NM_031213.3 274 ccC/ccT 0 Silent G 39 FAM108A1 SNP 19 G A 1828545 1828545 Broad CACNA1A 773 broad.mit.edu GRCh37 19 13565965 13565965 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000360228.5:c.355C>T p.Gln119Ter p.Q119* ENST00000360228 NM_001127222.1 119 Cag/Tag 0 Nonsense_Mutation G 46 CACNA1A SNP 19 G A 13426965 13426965 Broad LYPD6B 130576 broad.mit.edu GRCh37 2 150069509 150069509 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000409642.3:c.332C>T p.Thr111Ile p.T111I ENST00000409642 NM_177964.3 111 aCa/aTa 0 Missense_Mutation C 17 LYPD6B SNP 2 C T 149777755 149777755 Broad CDK5RAP1 51654 broad.mit.edu GRCh37 20 31960505 31960505 + splice_acceptor_variant Splice_Site SNP T T A novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000346416.2:c.1206-2A>T p.X402_splice ENST00000346416 NM_001278169.1 0 Splice_Site_SNP T 55 CDK5RAP1 SNP 20 T A 31424166 31424166 Broad SALL4 57167 broad.mit.edu GRCh37 20 50408255 50408255 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000217086.4:c.767C>G p.Thr256Ser p.T256S ENST00000217086 NM_020436.3 256 aCt/aGt 0 Missense_Mutation G 36 SALL4 SNP 20 G C 49841662 49841662 Broad USP25 29761 broad.mit.edu GRCh37 21 17199305 17199305 + synonymous_variant Silent SNP A A G novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000285679.6:c.1476A>G p.Glu492= p.E492= ENST00000285679 NM_013396.3 492 gaA/gaG 0 Silent A 2 USP25 SNP 21 A G 16121176 16121176 Broad GABPA 2551 broad.mit.edu GRCh37 21 27121366 27121366 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000354828.3:c.242T>C p.Leu81Ser p.L81S ENST00000354828 NM_001197297.1 81 tTa/tCa 0 Missense_Mutation T 61 GABPA SNP 21 T C 26043237 26043237 Broad MED12L 116931 broad.mit.edu GRCh37 3 150911297 150911297 + synonymous_variant Silent SNP A A G novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000474524.1:c.1989A>G p.Gly663= p.G663= ENST00000474524 NM_053002.4 663 ggA/ggG 0 Silent A 11 MED12L SNP 3 A G 152393987 152393987 Broad PCDHA5 56143 broad.mit.edu GRCh37 5 140202018 140202018 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000529859.1:c.658G>A p.Glu220Lys p.E220K ENST00000529859 NM_018908.2 220 Gaa/Aaa 0 Missense_Mutation G 37 PCDHA5 SNP 5 G A 140182202 140182202 Broad PCDHGB1 56104 broad.mit.edu GRCh37 5 140731005 140731005 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000523390.1:c.1178C>A p.Thr393Asn p.T393N ENST00000523390 NM_018922.2 393 aCc/aAc 0 Missense_Mutation C 18 PCDHGB1 SNP 5 C A 140711189 140711189 Broad FAT2 2196 broad.mit.edu GRCh37 5 150891889 150891889 + synonymous_variant Silent SNP A A G novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000261800.5:c.11742T>C p.Asp3914= p.D3914= ENST00000261800 NM_001447.2 3914 gaT/gaC 0 Silent A 8 FAT2 SNP 5 A G 150872082 150872082 Broad GPRC6A 222545 broad.mit.edu GRCh37 6 117127585 117127585 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000310357.3:c.1283A>G p.Asp428Gly p.D428G ENST00000310357 NM_148963.2 428 gAt/gGt 0 Missense_Mutation T 50 GPRC6A SNP 6 T C 117234278 117234278 Broad PLEKHG1 57480 broad.mit.edu GRCh37 6 151055188 151055188 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000367328.1:c.371C>A p.Thr124Asn p.T124N ENST00000367328 NM_001029884.1 124 aCc/aAc 0 Missense_Mutation C 18 PLEKHG1 SNP 6 C A 151096881 151096881 Broad SDK1 221935 broad.mit.edu GRCh37 7 4089017 4089017 + synonymous_variant Silent SNP C C T novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000404826.2:c.2640C>T p.Ala880= p.A880= ENST00000404826 NM_152744.3 880 gcC/gcT 0 Silent C 23 SDK1 SNP 7 C T 4055543 4055543 Broad EPHB6 2051 broad.mit.edu GRCh37 7 142561396 142561396 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000392957.2:c.108G>T p.Leu36Phe p.L36F ENST00000392957 NM_004445.4 36 ttG/ttT 0 Missense_Mutation G 46 EPHB6 SNP 7 G T 142271518 142271518 Broad ABCF2 10061 broad.mit.edu GRCh37 7 150912711 150912711 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000222388.2:c.1509C>G p.Tyr503Ter p.Y503* ENST00000222388 NM_005692.4 503 taC/taG 0 Nonsense_Mutation G 40 ABCF2 SNP 7 G C 150543644 150543644 Broad EYA1 2138 broad.mit.edu GRCh37 8 72182016 72182016 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000340726.3:c.1009C>T p.His337Tyr p.H337Y ENST00000340726 NM_000503.4 337 Cac/Tac 0 Missense_Mutation G 47 EYA1 SNP 8 G A 72344570 72344570 Broad UBR5 51366 broad.mit.edu GRCh37 8 103354762 103354762 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000520539.1:c.1037A>G p.Lys346Arg p.K346R ENST00000520539 NM_015902.5 346 aAg/aGg 0 Missense_Mutation T 56 UBR5 SNP 8 T C 103423938 103423938 Broad CSMD3 114788 broad.mit.edu GRCh37 8 113403011 113403011 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000297405.5:c.5816G>C p.Cys1939Ser p.C1939S ENST00000297405 NM_198123.1 1939 tGt/tCt 0 Missense_Mutation C 17 CSMD3 SNP 8 C G 113472187 113472187 Broad ATAD2 29028 broad.mit.edu GRCh37 8 124361587 124361587 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000287394.5:c.1744C>A p.Pro582Thr p.P582T ENST00000287394 NM_014109.3 582 Cct/Act 0 Missense_Mutation G 41 ATAD2 SNP 8 G T 124430768 124430768 Broad FPGS 2356 broad.mit.edu GRCh37 9 130569338 130569338 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown x x x ENST00000373247.2:c.473G>A p.Arg158His p.R158H ENST00000373247 NM_004957.4 158 cGc/cAc 0 Missense_Mutation G 38 FPGS SNP 9 G A 129609159 129609159 Broad TP53 7157 broad.mit.edu GRCh37 17 7578176 7578176 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-30-1862-01 TCGA-30-1862-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.672+1G>A p.X224_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 18 TP53 SNP 17 C T 7518901 7518901 Broad LY9 4063 broad.mit.edu GRCh37 1 160783668 160783668 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000263285.6:c.697T>A p.Ser233Thr p.S233T ENST00000263285 233 Tcc/Acc 0 Missense_Mutation T 54 LY9 SNP 1 T A 159050292 159050292 Broad GPR158 57512 broad.mit.edu GRCh37 10 25887864 25887864 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000376351.3:c.3309C>T p.Asn1103= p.N1103= ENST00000376351 NM_020752.2 1103 aaC/aaT 0 Silent C 19 GPR158 SNP 10 C T 25927870 25927870 Broad SVIL 6840 broad.mit.edu GRCh37 10 29840004 29840004 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000375398.2:c.349G>T p.Ala117Ser p.A117S ENST00000375398 117 Gca/Tca 0 Missense_Mutation C 26 SVIL SNP 10 C A 29880010 29880010 Broad PCDH15 65217 broad.mit.edu GRCh37 10 55955527 55955527 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000361849.3:c.1221T>C p.Ser407= p.S407= ENST00000361849 NM_001142768.1 407 tcT/tcC 0 Silent A 7 PCDH15 SNP 10 A G 55625533 55625533 Broad FAM35A 54537 broad.mit.edu GRCh37 10 88911656 88911656 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000298784.1:c.545G>C p.Cys182Ser p.C182S ENST00000298784 NM_019054.2 182 tGt/tCt 0 Missense_Mutation G 48 FAM35A SNP 10 G C 88901636 88901636 Broad TAF5 6877 broad.mit.edu GRCh37 10 105147827 105147827 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000369839.3:c.2250T>C p.Asp750= p.D750= ENST00000369839 NM_006951.3 750 gaT/gaC 0 Silent T 51 TAF5 SNP 10 T C 105137817 105137817 Broad FANK1 92565 broad.mit.edu GRCh37 10 127697035 127697035 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000368693.1:c.765G>A p.Ser255= p.S255= ENST00000368693 255 tcG/tcA 0 Silent G 39 FANK1 SNP 10 G A 127687025 127687025 Broad UBQLN3 50613 broad.mit.edu GRCh37 11 5528829 5528829 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000311659.4:c.1960C>G p.Gln654Glu p.Q654E ENST00000311659 NM_017481.2 654 Cag/Gag 0 Missense_Mutation G 48 UBQLN3 SNP 11 G C 5485405 5485405 Broad LRP4 4038 broad.mit.edu GRCh37 11 46893168 46893168 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000378623.1:c.4600G>A p.Ala1534Thr p.A1534T ENST00000378623 NM_002334.3 1534 Gcg/Acg 0 Missense_Mutation C 25 LRP4 SNP 11 C T 46849744 46849744 Broad CATSPER1 117144 broad.mit.edu GRCh37 11 65788574 65788574 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000312106.5:c.1774A>C p.Thr592Pro p.T592P ENST00000312106 NM_053054.3 592 Acc/Ccc 0 Missense_Mutation T 57 CATSPER1 SNP 11 T G 65545150 65545150 Broad GRM5 2915 broad.mit.edu GRCh37 11 88780767 88780767 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000418177.2:c.274G>C p.Gly92Arg p.G92R ENST00000418177 92 Ggc/Cgc 0 Missense_Mutation C 22 GRM5 SNP 11 C G 88420415 88420415 Broad SLC36A4 120103 broad.mit.edu GRCh37 11 92917625 92917625 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000326402.4:c.241C>G p.Pro81Ala p.P81A ENST00000326402 NM_152313.2 81 Cca/Gca 0 Missense_Mutation G 41 SLC36A4 SNP 11 G C 92557273 92557273 Broad POU2F3 25833 broad.mit.edu GRCh37 11 120180221 120180221 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000260264.4:c.1000C>T p.Arg334Ter p.R334* ENST00000260264 NM_001244682.1 334 Cga/Tga 0 Nonsense_Mutation C 23 POU2F3 SNP 11 C T 119685431 119685431 Broad PDE3A 5139 broad.mit.edu GRCh37 12 20783055 20783055 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000359062.3:c.1754G>T p.Cys585Phe p.C585F ENST00000359062 NM_001244683.1 585 tGt/tTt 0 Missense_Mutation G 48 PDE3A SNP 12 G T 20674322 20674322 Broad ATP2A2 488 broad.mit.edu GRCh37 12 110778528 110778528 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000539276.2:c.1826C>A p.Ser609Tyr p.S609Y ENST00000539276 609 tCc/tAc 0 Missense_Mutation C 30 ATP2A2 SNP 12 C A 109262911 109262911 Broad KNTC1 9735 broad.mit.edu GRCh37 12 123019278 123019278 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000333479.7:c.197C>A p.Ser66Ter p.S66* ENST00000333479 NM_014708.4 66 tCa/tAa 0 Nonsense_Mutation C 29 KNTC1 SNP 12 C A 121585231 121585231 Broad PAK6 56924 broad.mit.edu GRCh37 15 40565547 40565547 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000560346.1:c.1491G>C p.Arg497Ser p.R497S ENST00000560346 497 agG/agC 0 Missense_Mutation G 42 PAK6 SNP 15 G C 38352839 38352839 Broad CNTNAP4 85445 broad.mit.edu GRCh37 16 76592512 76592512 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000478060.1:c.3640G>A p.Ala1214Thr p.A1214T ENST00000478060 NM_138994.3 1214 Gct/Act 0 Missense_Mutation G 42 CNTNAP4 SNP 16 G A 75150013 75150013 Broad TP53 7157 broad.mit.edu GRCh37 17 7578406 7578406 + missense_variant Missense_Mutation SNP C C T rs28934578 Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.524G>A p.Arg175His p.R175H ENST00000269305 NM_001126112.2 175 cGc/cAc 0 Missense_Mutation C 27 TP53 SNP 17 C T 7519131 7519131 Broad SLC6A4 6532 broad.mit.edu GRCh37 17 28548917 28548917 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000401766.2:c.60T>C p.Asp20= p.D20= ENST00000401766 20 gaT/gaC 0 Silent A 4 SLC6A4 SNP 17 A G 25573043 25573043 Broad CCDC40 55036 broad.mit.edu GRCh37 17 78063611 78063611 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000397545.4:c.2760G>A p.Met920Ile p.M920I ENST00000397545 NM_017950.3 920 atG/atA 0 Missense_Mutation G 46 CCDC40 SNP 17 G A 75678206 75678206 Broad CEP192 55125 broad.mit.edu GRCh37 18 13049205 13049205 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000506447.1:c.2415G>T p.Met805Ile p.M805I ENST00000506447 NM_032142.3 805 atG/atT 0 Missense_Mutation G 48 CEP192 SNP 18 G T 13039205 13039205 Broad SIRT6 51548 broad.mit.edu GRCh37 19 4174893 4174893 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000337491.2:c.789C>T p.Thr263= p.T263= ENST00000337491 NM_016539.2 263 acC/acT 0 Silent G 43 SIRT6 SNP 19 G A 4125893 4125893 Broad CHAF1A 10036 broad.mit.edu GRCh37 19 4428827 4428827 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000301280.5:c.1544G>A p.Arg515Gln p.R515Q ENST00000301280 NM_005483.2 515 cGg/cAg 0 Missense_Mutation G 39 CHAF1A SNP 19 G A 4379827 4379827 Broad LPHN1 22859 broad.mit.edu GRCh37 19 14268845 14268845 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000340736.6:c.2399C>A p.Ala800Asp p.A800D ENST00000340736 NM_001008701.2 800 gCt/gAt 0 Missense_Mutation G 34 LPHN1 SNP 19 G T 14129845 14129845 Broad GPI 2821 broad.mit.edu GRCh37 19 34870460 34870460 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000415930.3:c.776C>A p.Thr259Asn p.T259N ENST00000415930 NM_001184722.1 259 aCt/aAt 0 Missense_Mutation C 20 GPI SNP 19 C A 39562300 39562300 Broad HIPK4 147746 broad.mit.edu GRCh37 19 40895777 40895777 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000291823.2:c.33C>T p.Tyr11= p.Y11= ENST00000291823 NM_144685.3 11 taC/taT 0 Silent G 40 HIPK4 SNP 19 G A 45587617 45587617 Broad LIPE 3991 broad.mit.edu GRCh37 19 42907079 42907079 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000244289.4:c.2647G>A p.Gly883Arg p.G883R ENST00000244289 NM_005357.2 883 Gga/Aga 0 Missense_Mutation C 22 LIPE SNP 19 C T 47598919 47598919 Broad KIF3C 3797 broad.mit.edu GRCh37 2 26177255 26177255 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000264712.3:c.1771-1G>A p.X591_splice ENST00000264712 NM_002254.6 0 Splice_Site_SNP C 28 KIF3C SNP 2 C T 26030759 26030759 Broad DYSF 8291 broad.mit.edu GRCh37 2 71762428 71762428 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000410020.3:c.1480C>T p.Arg494Cys p.R494C ENST00000410020 NM_001130987.1 494 Cgt/Tgt 0 Missense_Mutation C 31 DYSF SNP 2 C T 71615936 71615936 Broad INPP4A 3631 broad.mit.edu GRCh37 2 99181225 99181225 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000074304.5:c.2166C>T p.Tyr722= p.Y722= ENST00000074304 NM_001134224.1 722 taC/taT 0 Silent C 19 INPP4A SNP 2 C T 98547657 98547657 Broad COBLL1 22837 broad.mit.edu GRCh37 2 165550903 165550903 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000342193.4:c.3113G>A p.Ser1038Asn p.S1038N ENST00000342193 NM_014900.4 1038 aGt/aAt 0 Missense_Mutation C 20 COBLL1 SNP 2 C T 165259149 165259149 Broad ZNF804A 91752 broad.mit.edu GRCh37 2 185802432 185802432 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000302277.6:c.2309G>A p.Arg770Gln p.R770Q ENST00000302277 NM_194250.1 770 cGa/cAa 0 Missense_Mutation G 37 ZNF804A SNP 2 G A 185510677 185510677 Broad PGAP1 80055 broad.mit.edu GRCh37 2 197712711 197712711 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000354764.4:c.1912A>G p.Lys638Glu p.K638E ENST00000354764 NM_024989.3 638 Aaa/Gaa 0 Missense_Mutation T 63 PGAP1 SNP 2 T C 197420956 197420956 Broad OR6B3 150681 broad.mit.edu GRCh37 2 240984785 240984785 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000319423.4:c.705G>T p.Trp235Cys p.W235C ENST00000319423 NM_173351.1 235 tgG/tgT 0 Missense_Mutation C 30 OR6B3 SNP 2 C A 240633458 240633458 Broad PRDM15 63977 broad.mit.edu GRCh37 21 43230511 43230511 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000269844.3:c.3749A>G p.Glu1250Gly p.E1250G ENST00000269844 NM_022115.3 1250 gAg/gGg 0 Missense_Mutation T 54 PRDM15 SNP 21 T C 42103580 42103580 Broad CCDC134 79879 broad.mit.edu GRCh37 22 42205978 42205978 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000255784.5:c.199G>C p.Asp67His p.D67H ENST00000255784 NM_024821.2 67 Gat/Cat 0 Missense_Mutation G 45 CCDC134 SNP 22 G C 40535924 40535924 Broad CCDC134 79879 broad.mit.edu GRCh37 22 42206263 42206263 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000255784.5:c.278G>A p.Gly93Glu p.G93E ENST00000255784 NM_024821.2 93 gGg/gAg 0 Missense_Mutation G 43 CCDC134 SNP 22 G A 40536209 40536209 Broad ADAMTS9 56999 broad.mit.edu GRCh37 3 64672498 64672498 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000498707.1:c.262T>G p.Ser88Ala p.S88A ENST00000498707 NM_182920.1 88 Tcc/Gcc 0 Missense_Mutation A 11 ADAMTS9 SNP 3 A C 64647538 64647538 Broad C3orf22 152065 broad.mit.edu GRCh37 3 126268764 126268764 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000318225.2:c.373G>C p.Ala125Pro p.A125P ENST00000318225 NM_152533.1 125 Gct/Cct 0 Missense_Mutation C 26 C3orf22 SNP 3 C G 127751454 127751454 Broad RHOH 399 broad.mit.edu GRCh37 4 40245074 40245074 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000381799.5:c.68G>A p.Arg23His p.R23H ENST00000381799 NM_004310.4 23 cGc/cAc 0 Missense_Mutation G 38 RHOH SNP 4 G A 39921469 39921469 Broad OTUD4 54726 broad.mit.edu GRCh37 4 146058728 146058728 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000454497.2:c.3004G>T p.Val1002Leu p.V1002L ENST00000454497 NM_001102653.1 1002 Gtg/Ttg 0 Missense_Mutation C 17 OTUD4 SNP 4 C A 146278178 146278178 Broad SLC4A9 83697 broad.mit.edu GRCh37 5 139743715 139743715 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000230993.6:c.1403T>G p.Ile468Ser p.I468S ENST00000230993 NM_001258428.1 468 aTt/aGt 0 Missense_Mutation T 52 SLC4A9 SNP 5 T G 139723899 139723899 Broad ANKHD1 54882 broad.mit.edu GRCh37 5 139838209 139838209 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000297183.6:c.1243-1G>T p.X415_splice ENST00000297183 NM_020690.5 0 Splice_Site_SNP G 35 ANKHD1-EIF4EBP3 SNP 5 G T 139818393 139818393 Broad PCDHGA9 56107 broad.mit.edu GRCh37 5 140783157 140783157 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000573521.1:c.638C>T p.Thr213Met p.T213M ENST00000573521 NM_018921.2 213 aCg/aTg 0 Missense_Mutation C 19 PCDHGA9 SNP 5 C T 140763341 140763341 Broad PCDHGA10 56106 broad.mit.edu GRCh37 5 140794189 140794189 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000398610.2:c.1447C>G p.Pro483Ala p.P483A ENST00000398610 NM_018913.2 483 Ccg/Gcg 0 Missense_Mutation C 22 PCDHGA10 SNP 5 C G 140774373 140774373 Broad PCDHGA11 56105 broad.mit.edu GRCh37 5 140801165 140801166 + missense_variant Missense_Mutation DNP TA TA GG novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000398587.2:c.371_372delinsGG p.Ile124Arg p.I124R ENST00000398587 NM_032092.1 124 aTA/aGG 0 Missense_Mutation TA 49 PCDHGA11 DNP 5 TA GG 140781350 140781349 Broad PPARGC1B 133522 broad.mit.edu GRCh37 5 149210436 149210436 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000309241.5:c.572C>T p.Pro191Leu p.P191L ENST00000309241 NM_133263.3 191 cCt/cTt 0 Missense_Mutation C 24 PPARGC1B SNP 5 C T 149190629 149190629 Broad ATP10B 23120 broad.mit.edu GRCh37 5 160016680 160016680 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000327245.5:c.3669T>G p.Asp1223Glu p.D1223E ENST00000327245 NM_025153.2 1223 gaT/gaG 0 Missense_Mutation A 8 ATP10B SNP 5 A C 159949258 159949258 Broad DNAH11 8701 broad.mit.edu GRCh37 7 21640503 21640503 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000328843.6:c.3210A>G p.Glu1070= p.E1070= ENST00000328843 1070 gaA/gaG 0 Silent A 3 DNAH11 SNP 7 A G 21607028 21607028 Broad GPR37 2861 broad.mit.edu GRCh37 7 124404475 124404475 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000303921.2:c.556G>C p.Ala186Pro p.A186P ENST00000303921 NM_005302.3 186 Gcc/Ccc 0 Missense_Mutation C 28 GPR37 SNP 7 C G 124191711 124191711 Broad FAM160B2 64760 broad.mit.edu GRCh37 8 21958138 21958138 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000289921.7:c.1375C>A p.Leu459Met p.L459M ENST00000289921 NM_022749.5 459 Ctg/Atg 0 Missense_Mutation C 28 FAM160B2 SNP 8 C A 22014083 22014083 Broad PURG 29942 broad.mit.edu GRCh37 8 30890192 30890192 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000475541.1:c.107A>T p.His36Leu p.H36L ENST00000475541 NM_013357.2 36 cAc/cTc 0 Missense_Mutation T 59 PURG SNP 8 T A 31009734 31009734 Broad TRAM1 23471 broad.mit.edu GRCh37 8 71499191 71499191 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000262213.2:c.685G>C p.Val229Leu p.V229L ENST00000262213 NM_014294.5 229 Gtt/Ctt 0 Missense_Mutation C 17 TRAM1 SNP 8 C G 71661745 71661745 Broad OLFML2A 169611 broad.mit.edu GRCh37 9 127561740 127561740 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000373580.3:c.639C>A p.Thr213= p.T213= ENST00000373580 NM_182487.2 213 acC/acA 0 Silent C 22 OLFML2A SNP 9 C A 126601561 126601561 Broad RBM3 5935 broad.mit.edu GRCh37 X 48434994 48434994 + splice_donor_variant Splice_Site SNP T T G novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000376759.3:c.413+2T>G p.X138_splice ENST00000376759 NM_006743.4 0 Splice_Site_SNP T 59 RBM3 SNP 23 T G 48319938 48319938 Broad SMC1A 8243 broad.mit.edu GRCh37 X 53436003 53436003 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000322213.4:c.1535C>A p.Pro512His p.P512H ENST00000322213 NM_001281463.1 512 cCt/cAt 0 Missense_Mutation G 35 SMC1A SNP 23 G T 53452728 53452728 Broad KIAA2022 340533 broad.mit.edu GRCh37 X 73963597 73963597 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown x x x ENST00000055682.6:c.795T>A p.Ile265= p.I265= ENST00000055682 NM_001008537.2 265 atT/atA 0 Silent A 13 KIAA2022 SNP 23 A T 73880322 73880322 Broad PDE4DIP 9659 broad.mit.edu GRCh37 1 144854597 144854602 + inframe_deletion In_Frame_Del DEL TCGCTC TCGCTC - novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000369356.4:c.6868_6873del p.Glu2290_Arg2291del p.E2290_R2291del ENST00000369356 NM_014644.5 2290 GAGCGA/- 0 In_Frame_Del TCGCTC 58 PDE4DIP DEL 1 - TCGCTC 143565959 143565954 Broad BEND7 222389 broad.mit.edu GRCh37 10 13481195 13481196 + frameshift_variant Frame_Shift_Ins INS - - TCCC novel Unknown TCGA-24-2281-01 TCGA-24-2281-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000341083.3:c.1383_1384insGGGA p.His462GlyfsTer28 p.H462Gfs*28 ENST00000341083 NM_152751.2 461 -/GGGA 0 Frame_Shift_Ins - 45 BEND7 INS 10 TCCC - 13521202 13521201 Broad SLC45A1 50651 broad.mit.edu GRCh37 1 8390598 8390598 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000471889.1:c.1045G>A p.Gly349Ser p.G349S ENST00000471889 349 Ggc/Agc 0 Missense_Mutation G 39 SLC45A1 SNP 1 G A 8313185 8313185 Broad PTCHD2 57540 broad.mit.edu GRCh37 1 11561401 11561401 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000294484.6:c.352C>T p.Arg118Cys p.R118C ENST00000294484 NM_020780.1 118 Cgt/Tgt 0 Missense_Mutation C 27 PTCHD2 SNP 1 C T 11483988 11483988 Broad OSCP1 127700 broad.mit.edu GRCh37 1 36888400 36888400 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000235532.5:c.718G>A p.Gly240Arg p.G240R ENST00000235532 NM_145047.4 240 Gga/Aga 0 Missense_Mutation C 21 OSCP1 SNP 1 C T 36660987 36660987 Broad FLG 2312 broad.mit.edu GRCh37 1 152278672 152278672 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000368799.1:c.8690G>A p.Ser2897Asn p.S2897N ENST00000368799 NM_002016.1 2897 aGt/aAt 0 Missense_Mutation C 20 FLG SNP 1 C T 150545296 150545296 Broad CRTC2 200186 broad.mit.edu GRCh37 1 153921792 153921792 + synonymous_variant Silent SNP T T A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000368633.1:c.1473A>T p.Pro491= p.P491= ENST00000368633 NM_181715.2 491 ccA/ccT 0 Silent T 63 CRTC2 SNP 1 T A 152188416 152188416 Broad SUCO 51430 broad.mit.edu GRCh37 1 172520743 172520743 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000263688.3:c.154G>A p.Glu52Lys p.E52K ENST00000263688 NM_014283.3 52 Gaa/Aaa 0 Missense_Mutation G 45 C1orf9 SNP 1 G A 170787366 170787366 Broad TNR 7143 broad.mit.edu GRCh37 1 175375513 175375513 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000367674.2:c.338C>G p.Thr113Ser p.T113S ENST00000367674 113 aCc/aGc 0 Missense_Mutation G 44 TNR SNP 1 G C 173642136 173642136 Broad TNR 7143 broad.mit.edu GRCh37 1 175375818 175375818 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000367674.2:c.33G>T p.Lys11Asn p.K11N ENST00000367674 11 aaG/aaT 0 Missense_Mutation C 32 TNR SNP 1 C A 173642441 173642441 Broad CRB1 23418 broad.mit.edu GRCh37 1 197396584 197396584 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000367400.3:c.2129A>G p.Glu710Gly p.E710G ENST00000367400 NM_201253.2 710 gAg/gGg 0 Missense_Mutation A 11 CRB1 SNP 1 A G 195663207 195663207 Broad CACNA1S 779 broad.mit.edu GRCh37 1 201061172 201061172 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000362061.3:c.469G>A p.Ala157Thr p.A157T ENST00000362061 NM_000069.2 157 Gcc/Acc 0 Missense_Mutation C 28 CACNA1S SNP 1 C T 199327795 199327795 Broad KISS1 3814 broad.mit.edu GRCh37 1 204161957 204161957 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000367194.4:c.48C>A p.Thr16= p.T16= ENST00000367194 NM_002256.3 16 acC/acA 0 Silent G 43 KISS1 SNP 1 G T 202428580 202428580 Broad SYT14 255928 broad.mit.edu GRCh37 1 210194567 210194567 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000422431.1:c.545A>T p.Asp182Val p.D182V ENST00000422431 NM_001146261.2 182 gAt/gTt 0 Missense_Mutation A 12 SYT14 SNP 1 A T 208261190 208261190 Broad CNIH4 29097 broad.mit.edu GRCh37 1 224559009 224559009 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000465271.1:c.276C>A p.Asn92Lys p.N92K ENST00000465271 NM_014184.3 92 aaC/aaA 0 Missense_Mutation C 17 CNIH4 SNP 1 C A 222625632 222625632 Broad LBR 3930 broad.mit.edu GRCh37 1 225609864 225609864 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000338179.2:c.281C>G p.Ala94Gly p.A94G ENST00000338179 NM_194442.2 94 gCc/gGc 0 Missense_Mutation G 42 LBR SNP 1 G C 223676487 223676487 Broad HERC4 26091 broad.mit.edu GRCh37 10 69692499 69692499 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000395198.3:c.2717A>G p.Asn906Ser p.N906S ENST00000395198 NM_022079.2 906 aAt/aGt 0 Missense_Mutation T 52 HERC4 SNP 10 T C 69362505 69362505 Broad FAM45A 404636 broad.mit.edu GRCh37 10 120883076 120883076 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000361432.2:c.689G>A p.Cys230Tyr p.C230Y ENST00000361432 NM_207009.2 230 tGc/tAc 0 Missense_Mutation G 46 FAM45A SNP 10 G A 120873066 120873066 Broad TUBGCP2 10844 broad.mit.edu GRCh37 10 135095827 135095827 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000543663.1:c.2393A>G p.Lys798Arg p.K798R ENST00000543663 798 aAa/aGa 0 Missense_Mutation T 64 TUBGCP2 SNP 10 T C 134945817 134945817 Broad DKK3 27122 broad.mit.edu GRCh37 11 11986154 11986154 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000396505.2:c.910G>C p.Val304Leu p.V304L ENST00000396505 NM_015881.5 304 Gtc/Ctc 0 Missense_Mutation C 18 DKK3 SNP 11 C G 11942730 11942730 Broad SLC43A3 29015 broad.mit.edu GRCh37 11 57177423 57177423 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000395123.2:c.1232C>G p.Ala411Gly p.A411G ENST00000395123 NM_014096.3 411 gCc/gGc 0 Missense_Mutation G 42 SLC43A3 SNP 11 G C 56933999 56933999 Broad PDE2A 5138 broad.mit.edu GRCh37 11 72296638 72296638 + splice_acceptor_variant Splice_Site SNP C C A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000334456.5:c.1183-1G>T p.X395_splice ENST00000334456 NM_002599.4 0 Splice_Site_SNP C 24 PDE2A SNP 11 C A 71974286 71974286 Broad STYK1 55359 broad.mit.edu GRCh37 12 10780256 10780256 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000075503.3:c.701A>T p.Gln234Leu p.Q234L ENST00000075503 NM_018423.2 234 cAg/cTg 0 Missense_Mutation T 55 STYK1 SNP 12 T A 10671523 10671523 Broad ASIC1 41 broad.mit.edu GRCh37 12 50471824 50471824 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000228468.4:c.751A>T p.Ser251Cys p.S251C ENST00000228468 NM_020039.3 251 Agt/Tgt 0 Missense_Mutation A 15 ACCN2 SNP 12 A T 48758091 48758091 Broad GRIP1 23426 broad.mit.edu GRCh37 12 66849241 66849241 + synonymous_variant Silent SNP T T A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000398016.3:c.1146A>T p.Pro382= p.P382= ENST00000398016 NM_021150.3 382 ccA/ccT 0 Silent T 59 GRIP1 SNP 12 T A 65135508 65135508 Broad E2F7 144455 broad.mit.edu GRCh37 12 77423719 77423719 + synonymous_variant Silent SNP A A T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000322886.7:c.1776T>A p.Ala592= p.A592= ENST00000322886 NM_203394.2 592 gcT/gcA 0 Silent A 11 E2F7 SNP 12 A T 75947850 75947850 Broad MGAT4C 25834 broad.mit.edu GRCh37 12 86374195 86374195 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000604798.1:c.309T>G p.Ile103Met p.I103M ENST00000604798 103 atT/atG 0 Missense_Mutation A 5 MGAT4C SNP 12 A C 84898326 84898326 Broad PARP4 143 broad.mit.edu GRCh37 13 25060373 25060373 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000381989.3:c.1285A>G p.Lys429Glu p.K429E ENST00000381989 NM_006437.3 429 Aaa/Gaa 0 Missense_Mutation T 63 PARP4 SNP 13 T C 23958373 23958373 Broad TRPC4 7223 broad.mit.edu GRCh37 13 38211452 38211452 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000379681.3:c.2537A>C p.Asp846Ala p.D846A ENST00000379681 NM_001135955.1 846 gAt/gCt 0 Missense_Mutation T 50 TRPC4 SNP 13 T G 37109452 37109452 Broad OXGR1 27199 broad.mit.edu GRCh37 13 97639260 97639260 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000298440.1:c.754G>A p.Val252Ile p.V252I ENST00000298440 NM_080818.3 252 Gta/Ata 0 Missense_Mutation C 19 OXGR1 SNP 13 C T 96437261 96437261 Broad ADCY4 196883 broad.mit.edu GRCh37 14 24791318 24791318 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000310677.4:c.2540C>T p.Pro847Leu p.P847L ENST00000310677 NM_001198568.1 847 cCt/cTt 0 Missense_Mutation G 35 ADCY4 SNP 14 G A 23861158 23861158 Broad SPTBN5 51332 broad.mit.edu GRCh37 15 42173364 42173364 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000320955.6:c.2526C>T p.Cys842= p.C842= ENST00000320955 NM_016642.3 842 tgC/tgT 0 Silent G 42 SPTBN5 SNP 15 G A 39960656 39960656 Broad MYO5A 4644 broad.mit.edu GRCh37 15 52689476 52689476 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000399231.3:c.1241G>C p.Trp414Ser p.W414S ENST00000399231 NM_000259.3 414 tGg/tCg 0 Missense_Mutation C 21 MYO5A SNP 15 C G 50476768 50476768 Broad HERC1 8925 broad.mit.edu GRCh37 15 63958318 63958318 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000443617.2:c.8355C>T p.Ile2785= p.I2785= ENST00000443617 NM_003922.3 2785 atC/atT 0 Silent G 45 HERC1 SNP 15 G A 61745371 61745371 Broad SLC2A4 6517 broad.mit.edu GRCh37 17 7189873 7189873 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000317370.8:c.1455G>A p.Arg485= p.R485= ENST00000317370 NM_001042.2 485 cgG/cgA 0 Silent G 41 SLC2A4 SNP 17 G A 7130597 7130597 Broad MYH13 8735 broad.mit.edu GRCh37 17 10263337 10263337 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000418404.3:c.585T>A p.Tyr195Ter p.Y195* ENST00000418404 195 taT/taA 0 Nonsense_Mutation A 4 MYH13 SNP 17 A T 10204062 10204062 Broad NF1 4763 broad.mit.edu GRCh37 17 29509525 29509525 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000358273.4:c.731-1G>T p.X244_splice ENST00000358273 NM_001042492.2 0 Splice_Site_SNP G 33 NF1 SNP 17 G T 26533651 26533651 Broad NF1 4763 broad.mit.edu GRCh37 17 29654820 29654820 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000358273.4:c.5572G>A p.Ala1858Thr p.A1858T ENST00000358273 NM_001042492.2 1858 Gca/Aca 0 Missense_Mutation G 38 NF1 SNP 17 G A 26678946 26678946 Broad KRT32 3882 broad.mit.edu GRCh37 17 39616412 39616412 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000225899.3:c.1297C>A p.Pro433Thr p.P433T ENST00000225899 NM_002278.3 433 Cca/Aca 0 Missense_Mutation G 42 KRT32 SNP 17 G T 36869938 36869938 Broad G6PC3 92579 broad.mit.edu GRCh37 17 42152697 42152697 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000269097.4:c.555G>A p.Leu185= p.L185= ENST00000269097 NM_138387.3 185 ctG/ctA 0 Silent G 45 G6PC3 SNP 17 G A 39508223 39508223 Broad ASXL3 80816 broad.mit.edu GRCh37 18 31322969 31322969 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000269197.5:c.3157A>T p.Thr1053Ser p.T1053S ENST00000269197 NM_030632.1 1053 Acc/Tcc 0 Missense_Mutation A 10 ASXL3 SNP 18 A T 29576967 29576967 Broad WDR7 23335 broad.mit.edu GRCh37 18 54358593 54358593 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000254442.3:c.863+1G>A p.X288_splice ENST00000254442 NM_015285.2 0 Splice_Site_SNP G 44 WDR7 SNP 18 G A 52509591 52509591 Broad LRRC8E 80131 broad.mit.edu GRCh37 19 7960518 7960518 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000306708.6:c.30C>T p.Phe10= p.F10= ENST00000306708 NM_025061.4 10 ttC/ttT 0 Silent C 29 LRRC8E SNP 19 C T 7866518 7866518 Broad ZNF491 126069 broad.mit.edu GRCh37 19 11917484 11917484 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000323169.5:c.716G>T p.Gly239Val p.G239V ENST00000323169 NM_152356.3 239 gGa/gTa 0 Missense_Mutation G 41 ZNF491 SNP 19 G T 11778484 11778484 Broad UPF1 5976 broad.mit.edu GRCh37 19 18966852 18966852 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000262803.5:c.1663C>T p.Pro555Ser p.P555S ENST00000262803 NM_002911.3 555 Ccg/Tcg 0 Missense_Mutation C 22 UPF1 SNP 19 C T 18827852 18827852 Broad EGLN2 112398 broad.mit.edu GRCh37 19 41307036 41307036 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000593726.1:c.559C>T p.Arg187Trp p.R187W ENST00000593726 187 Cgg/Tgg 0 Missense_Mutation C 27 EGLN2 SNP 19 C T 45998876 45998876 Broad PSG2 5670 broad.mit.edu GRCh37 19 43585264 43585264 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000406487.1:c.199T>A p.Trp67Arg p.W67R ENST00000406487 NM_031246.3 67 Tgg/Agg 0 Missense_Mutation A 7 PSG2 SNP 19 A T 48277104 48277104 Broad PPP6R1 22870 broad.mit.edu GRCh37 19 55748105 55748105 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000412770.2:c.1894G>T p.Ala632Ser p.A632S ENST00000412770 NM_014931.3 632 Gcc/Tcc 0 Missense_Mutation C 26 PPP6R1 SNP 19 C A 60439917 60439917 Broad NRXN1 9378 broad.mit.edu GRCh37 2 50699576 50699576 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000404971.1:c.3224C>T p.Thr1075Ile p.T1075I ENST00000404971 NM_001135659.1 1075 aCa/aTa 0 Missense_Mutation G 48 NRXN1 SNP 2 G A 50553080 50553080 Broad RTN4 57142 broad.mit.edu GRCh37 2 55252692 55252692 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000337526.6:c.2543C>G p.Ser848Cys p.S848C ENST00000337526 NM_020532.4 848 tCt/tGt 0 Missense_Mutation G 33 RTN4 SNP 2 G C 55106196 55106196 Broad AMER3 205147 broad.mit.edu GRCh37 2 131521561 131521561 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000423981.1:c.1916C>G p.Pro639Arg p.P639R ENST00000423981 NM_001105194.1 639 cCc/cGc 0 Missense_Mutation C 22 FAM123C SNP 2 C G 131238031 131238031 Broad ERMN 57471 broad.mit.edu GRCh37 2 158178234 158178234 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000397283.2:c.443C>T p.Thr148Ile p.T148I ENST00000397283 NM_001009959.1 148 aCt/aTt 0 Missense_Mutation G 36 ERMN SNP 2 G A 157886480 157886480 Broad GAD1 2571 broad.mit.edu GRCh37 2 171687500 171687500 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000358196.3:c.345A>T p.Gln115His p.Q115H ENST00000358196 NM_000817.2 115 caA/caT 0 Missense_Mutation A 4 GAD1 SNP 2 A T 171395746 171395746 Broad PDK1 5163 broad.mit.edu GRCh37 2 173429284 173429285 + missense_variant Missense_Mutation DNP CA CA AC novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000282077.3:c.464_465delinsAC p.Thr155Asn p.T155N ENST00000282077 155 aCA/aAC 0 Missense_Mutation CA 17 PDK1 DNP 2 CA AC 173137531 173137530 Broad DGKD 8527 broad.mit.edu GRCh37 2 234377112 234377112 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000264057.2:c.3468C>A p.His1156Gln p.H1156Q ENST00000264057 NM_152879.2 1156 caC/caA 0 Missense_Mutation C 18 DGKD SNP 2 C A 234041851 234041851 Broad BOK 666 broad.mit.edu GRCh37 2 242501817 242501817 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000318407.3:c.275T>C p.Leu92Pro p.L92P ENST00000318407 NM_032515.4 92 cTg/cCg 0 Missense_Mutation T 55 BOK SNP 2 T C 242150490 242150490 Broad GPCPD1 56261 broad.mit.edu GRCh37 20 5528439 5528439 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000379019.4:c.1887C>T p.Arg629= p.R629= ENST00000379019 NM_019593.3 629 cgC/cgT 0 Silent G 42 uc002wme.2 SNP 20 G A 5476439 5476439 Broad GHRH 2691 broad.mit.edu GRCh37 20 35884854 35884854 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000373614.2:c.131T>G p.Val44Gly p.V44G ENST00000373614 44 gTg/gGg 0 Missense_Mutation A 6 GHRH SNP 20 A C 35318268 35318268 Broad MATN4 8785 broad.mit.edu GRCh37 20 43933367 43933367 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000537548.1:c.144C>T p.Phe48= p.F48= ENST00000537548 NM_003833.4 48 ttC/ttT 0 Silent G 37 MATN4 SNP 20 G A 43366781 43366781 Broad PHACTR3 116154 broad.mit.edu GRCh37 20 58330380 58330380 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000371015.1:c.502G>A p.Asp168Asn p.D168N ENST00000371015 NM_080672.4 168 Gac/Aac 0 Missense_Mutation G 41 PHACTR3 SNP 20 G A 57763775 57763775 Broad TMEM50B 757 broad.mit.edu GRCh37 21 34828045 34828045 + synonymous_variant Silent SNP A A C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000542230.2:c.420T>G p.Leu140= p.L140= ENST00000542230 NM_006134.6 140 ctT/ctG 0 Silent A 13 TMEM50B SNP 21 A C 33749915 33749915 Broad C21orf33 8209 broad.mit.edu GRCh37 21 45556009 45556009 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000291577.6:c.262C>A p.His88Asn p.H88N ENST00000291577 NM_004649.6 88 Cac/Aac 0 Missense_Mutation C 25 C21orf33 SNP 21 C A 44380437 44380437 Broad SLC35E4 339665 broad.mit.edu GRCh37 22 31032922 31032922 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000343605.4:c.485T>C p.Leu162Pro p.L162P ENST00000343605 NM_001001479.2 162 cTt/cCt 0 Missense_Mutation T 56 SLC35E4 SNP 22 T C 29362922 29362922 Broad CYTH4 27128 broad.mit.edu GRCh37 22 37705313 37705313 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000248901.6:c.757C>G p.Leu253Val p.L253V ENST00000248901 NM_013385.3 253 Ctc/Gtc 0 Missense_Mutation C 24 CYTH4 SNP 22 C G 36035259 36035259 Broad GTPBP1 9567 broad.mit.edu GRCh37 22 39112025 39112025 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000216044.5:c.418G>C p.Ala140Pro p.A140P ENST00000216044 NM_004286.4 140 Gct/Cct 0 Missense_Mutation G 34 GTPBP1 SNP 22 G C 37441971 37441971 Broad L3MBTL2 83746 broad.mit.edu GRCh37 22 41609977 41609977 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000216237.5:c.343T>G p.Ser115Ala p.S115A ENST00000216237 NM_031488.4 115 Tcc/Gcc 0 Missense_Mutation T 54 L3MBTL2 SNP 22 T G 39939923 39939923 Broad XRCC6 2547 broad.mit.edu GRCh37 22 42049689 42049689 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000359308.4:c.1286C>A p.Pro429His p.P429H ENST00000359308 429 cCt/cAt 0 Missense_Mutation C 24 XRCC6 SNP 22 C A 40379635 40379635 Broad CHKB 1120 broad.mit.edu GRCh37 22 51020289 51020289 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000406938.2:c.336C>T p.Gly112= p.G112= ENST00000406938 NM_005198.4 112 ggC/ggT 0 Silent G 38 CHKB SNP 22 G A 49367155 49367155 Broad ITPR1 3708 broad.mit.edu GRCh37 3 4703822 4703822 + synonymous_variant Silent SNP T T A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000302640.8:c.1263T>A p.Ser421= p.S421= ENST00000302640 NM_001168272.1 421 tcT/tcA 0 Silent T 54 ITPR1 SNP 3 T A 4678822 4678822 Broad GRM7 2917 broad.mit.edu GRCh37 3 7620140 7620140 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000357716.4:c.1547G>A p.Arg516Gln p.R516Q ENST00000357716 NM_000844.3 516 cGa/cAa 0 Missense_Mutation G 37 GRM7 SNP 3 G A 7595140 7595140 Broad TTC21A 199223 broad.mit.edu GRCh37 3 39170331 39170331 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000431162.2:c.1825G>A p.Gly609Ser p.G609S ENST00000431162 609 Ggc/Agc 0 Missense_Mutation G 35 TTC21A SNP 3 G A 39145335 39145335 Broad ZNF35 7584 broad.mit.edu GRCh37 3 44701295 44701295 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000396056.2:c.1440G>A p.Gly480= p.G480= ENST00000396056 NM_003420.3 480 ggG/ggA 0 Silent G 41 ZNF35 SNP 3 G A 44676299 44676299 Broad RTP1 132112 broad.mit.edu GRCh37 3 186917744 186917744 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000312295.4:c.678G>A p.Ser226= p.S226= ENST00000312295 NM_153708.2 226 tcG/tcA 0 Silent G 38 RTP1 SNP 3 G A 188400438 188400438 Broad PIGG 54872 broad.mit.edu GRCh37 4 524498 524498 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000453061.2:c.2535G>A p.Met845Ile p.M845I ENST00000453061 NM_001127178.1 845 atG/atA 0 Missense_Mutation G 46 PIGG SNP 4 G A 514498 514498 Broad MAN2B2 23324 broad.mit.edu GRCh37 4 6599954 6599954 + synonymous_variant Silent SNP T T A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000285599.3:c.1278T>A p.Thr426= p.T426= ENST00000285599 NM_015274.1 426 acT/acA 0 Silent T 55 MAN2B2 SNP 4 T A 6650855 6650855 Broad TRMT10A 93587 broad.mit.edu GRCh37 4 100470496 100470496 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000273962.3:c.769G>C p.Glu257Gln p.E257Q ENST00000273962 NM_152292.4 257 Gaa/Caa 0 Missense_Mutation C 30 RG9MTD2 SNP 4 C G 100689519 100689519 Broad PCDHA3 56145 broad.mit.edu GRCh37 5 140183057 140183057 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000522353.2:c.2275T>C p.Cys759Arg p.C759R ENST00000522353 NM_018906.2 759 Tgc/Cgc 0 Missense_Mutation T 59 PCDHA3 SNP 5 T C 140163241 140163241 Broad PCDHA13 56136 broad.mit.edu GRCh37 5 140262692 140262692 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000289272.2:c.839C>T p.Ser280Leu p.S280L ENST00000289272 NM_018904.2 280 tCa/tTa 0 Missense_Mutation C 29 PCDHA13 SNP 5 C T 140242876 140242876 Broad FBXO38 81545 broad.mit.edu GRCh37 5 147820788 147820788 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000394370.3:c.3151G>A p.Asp1051Asn p.D1051N ENST00000394370 1051 Gac/Aac 0 Missense_Mutation G 33 FBXO38 SNP 5 G A 147800981 147800981 Broad G3BP1 10146 broad.mit.edu GRCh37 5 151179553 151179553 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000394123.3:c.947C>G p.Pro316Arg p.P316R ENST00000394123 316 cCc/cGc 0 Missense_Mutation C 22 G3BP1 SNP 5 C G 151159746 151159746 Broad ITK 3702 broad.mit.edu GRCh37 5 156644898 156644898 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000422843.3:c.476C>T p.Pro159Leu p.P159L ENST00000422843 NM_005546.3 159 cCt/cTt 0 Missense_Mutation C 24 ITK SNP 5 C T 156577476 156577476 Broad DOCK2 1794 broad.mit.edu GRCh37 5 169435740 169435740 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000256935.8:c.3222G>C p.Trp1074Cys p.W1074C ENST00000256935 NM_004946.2 1074 tgG/tgC 0 Missense_Mutation G 44 DOCK2 SNP 5 G C 169368318 169368318 Broad KCNMB1 3779 broad.mit.edu GRCh37 5 169805927 169805927 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000274629.4:c.357C>T p.Asp119= p.D119= ENST00000274629 NM_004137.3 119 gaC/gaT 0 Silent G 40 KCNMB1 SNP 5 G A 169738505 169738505 Broad HIST1H4E 8367 broad.mit.edu GRCh37 6 26205108 26205108 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000360441.4:c.236G>A p.Arg79His p.R79H ENST00000360441 NM_003545.3 79 cGc/cAc 0 Missense_Mutation G 38 HIST1H4E SNP 6 G A 26313087 26313087 Broad B3GALT4 8705 broad.mit.edu GRCh37 6 33245242 33245242 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000451237.1:c.46C>G p.Leu16Val p.L16V ENST00000451237 NM_003782.3 16 Ctg/Gtg 0 Missense_Mutation C 28 B3GALT4 SNP 6 C G 33353220 33353220 Broad CUL9 23113 broad.mit.edu GRCh37 6 43154085 43154085 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000252050.4:c.1143G>C p.Gln381His p.Q381H ENST00000252050 NM_015089.2 381 caG/caC 0 Missense_Mutation G 33 CUL9 SNP 6 G C 43262063 43262063 Broad LIN28B 389421 broad.mit.edu GRCh37 6 105526342 105526342 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000345080.4:c.437C>T p.Pro146Leu p.P146L ENST00000345080 NM_001004317.3 146 cCt/cTt 0 Missense_Mutation C 24 LIN28B SNP 6 C T 105633035 105633035 Broad TRDN 10345 broad.mit.edu GRCh37 6 123892076 123892076 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000398178.3:c.224A>T p.Asn75Ile p.N75I ENST00000398178 NM_006073.3 75 aAc/aTc 0 Missense_Mutation T 60 TRDN SNP 6 T A 123933775 123933775 Broad VNN1 8876 broad.mit.edu GRCh37 6 133004295 133004295 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000367928.4:c.1526G>C p.Cys509Ser p.C509S ENST00000367928 NM_004666.2 509 tGc/tCc 0 Missense_Mutation C 25 VNN1 SNP 6 C G 133045988 133045988 Broad RNF216 54476 broad.mit.edu GRCh37 7 5662568 5662568 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000389902.3:c.2695G>A p.Asp899Asn p.D899N ENST00000389902 899 Gac/Aac 0 Missense_Mutation C 29 RNF216 SNP 7 C T 5629094 5629094 Broad POLM 27434 broad.mit.edu GRCh37 7 44119288 44119288 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000242248.5:c.524G>A p.Arg175His p.R175H ENST00000242248 NM_013284.2 175 cGc/cAc 0 Missense_Mutation C 27 POLM SNP 7 C T 44085813 44085813 Broad GTF2IRD1 9569 broad.mit.edu GRCh37 7 74005265 74005265 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000455841.2:c.2606C>A p.Pro869His p.P869H ENST00000455841 NM_001199207.1 869 cCc/cAc 0 Missense_Mutation C 22 GTF2IRD1 SNP 7 C A 73643201 73643201 Broad CACNA2D1 781 broad.mit.edu GRCh37 7 81591785 81591785 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000356860.3:c.2807G>T p.Ser936Ile p.S936I ENST00000356860 NM_000722.2 936 aGt/aTt 0 Missense_Mutation C 20 CACNA2D1 SNP 7 C A 81429721 81429721 Broad PTPRZ1 5803 broad.mit.edu GRCh37 7 121674386 121674386 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000393386.2:c.5238C>A p.Asn1746Lys p.N1746K ENST00000393386 NM_001206838.1 1746 aaC/aaA 0 Missense_Mutation C 18 PTPRZ1 SNP 7 C A 121461622 121461622 Broad RP1L1 94137 broad.mit.edu GRCh37 8 10480664 10480664 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000382483.3:c.48C>A p.Cys16Ter p.C16* ENST00000382483 NM_178857.5 16 tgC/tgA 0 Nonsense_Mutation G 34 RP1L1 SNP 8 G T 10518074 10518074 Broad RAB11FIP1 80223 broad.mit.edu GRCh37 8 37729629 37729629 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000330843.4:c.2691C>T p.Val897= p.V897= ENST00000330843 NM_001002814.2 897 gtC/gtT 0 Silent G 41 RAB11FIP1 SNP 8 G A 37848787 37848787 Broad OSR2 116039 broad.mit.edu GRCh37 8 99961564 99961564 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000297565.4:c.384G>A p.Glu128= p.E128= ENST00000297565 NM_001142462.1 128 gaG/gaA 0 Silent G 35 OSR2 SNP 8 G A 100030740 100030740 Broad KLHL9 55958 broad.mit.edu GRCh37 9 21333996 21333996 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000359039.4:c.863C>G p.Ser288Ter p.S288* ENST00000359039 288 tCa/tGa 0 Nonsense_Mutation G 45 KLHL9 SNP 9 G C 21323996 21323996 Broad GABBR2 9568 broad.mit.edu GRCh37 9 101056091 101056091 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000259455.2:c.2636T>C p.Ile879Thr p.I879T ENST00000259455 NM_005458.7 879 aTa/aCa 0 Missense_Mutation A 16 GABBR2 SNP 9 A G 100095912 100095912 Broad TLR4 7099 broad.mit.edu GRCh37 9 120476895 120476895 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000355622.6:c.2489G>A p.Gly830Glu p.G830E ENST00000355622 NM_138557.2 830 gGa/gAa 0 Missense_Mutation G 41 TLR4 SNP 9 G A 119516716 119516716 Broad HSPA5 3309 broad.mit.edu GRCh37 9 127999102 127999102 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000324460.6:c.1734T>C p.Asp578= p.D578= ENST00000324460 NM_005347.4 578 gaT/gaC 0 Silent A 16 HSPA5 SNP 9 A G 127038923 127038923 Broad HSPA5 3309 broad.mit.edu GRCh37 9 128000546 128000546 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000324460.6:c.1276A>T p.Ile426Phe p.I426F ENST00000324460 NM_005347.4 426 Att/Ttt 0 Missense_Mutation T 49 HSPA5 SNP 9 T A 127040367 127040367 Broad SURF1 6834 broad.mit.edu GRCh37 9 136218927 136218927 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000371974.3:c.822C>A p.Tyr274Ter p.Y274* ENST00000371974 NM_001280787.1 274 taC/taA 0 Nonsense_Mutation G 48 SURF1 SNP 9 G T 135208748 135208748 Broad NOTCH1 4851 broad.mit.edu GRCh37 9 139407882 139407882 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000277541.6:c.2315C>G p.Thr772Ser p.T772S ENST00000277541 NM_017617.3 772 aCc/aGc 0 Missense_Mutation G 44 NOTCH1 SNP 9 G C 138527703 138527703 Broad WWC3 55841 broad.mit.edu GRCh37 X 10084547 10084547 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000380861.4:c.1064G>T p.Ser355Ile p.S355I ENST00000380861 NM_015691.3 355 aGc/aTc 0 Missense_Mutation G 35 WWC3 SNP 23 G T 10044547 10044547 Broad RS1 6247 broad.mit.edu GRCh37 X 18662574 18662574 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000379984.3:c.498C>G p.Tyr166Ter p.Y166* ENST00000379984 NM_000330.3 166 taC/taG 0 Nonsense_Mutation G 48 RS1 SNP 23 G C 18572495 18572495 Broad PDHA1 5160 broad.mit.edu GRCh37 X 19367444 19367444 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000379806.5:c.186G>A p.Leu62= p.L62= ENST00000379806 NM_001173454.1 62 ctG/ctA 0 Silent G 47 PDHA1 SNP 23 G A 19277365 19277365 Broad EFHC2 80258 broad.mit.edu GRCh37 X 44037780 44037780 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000420999.1:c.1782C>A p.Asn594Lys p.N594K ENST00000420999 NM_025184.3 594 aaC/aaA 0 Missense_Mutation G 44 EFHC2 SNP 23 G T 43922724 43922724 Broad PQBP1 10084 broad.mit.edu GRCh37 X 48759603 48759603 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000218224.4:c.386A>G p.Asp129Gly p.D129G ENST00000218224 NM_005710.2 129 gAc/gGc 0 Missense_Mutation A 10 PQBP1 SNP 23 A G 48644547 48644547 Broad TRO 7216 broad.mit.edu GRCh37 X 54949933 54949933 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000173898.7:c.968C>G p.Thr323Ser p.T323S ENST00000173898 NM_001039705.2 323 aCt/aGt 0 Missense_Mutation C 20 TRO SNP 23 C G 54966658 54966658 Broad RGAG4 340526 broad.mit.edu GRCh37 X 71350597 71350597 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000545866.1:c.794T>G p.Leu265Trp p.L265W ENST00000545866 NM_001024455.3 265 tTg/tGg 0 Missense_Mutation A 5 RGAG4 SNP 23 A C 71267322 71267322 Broad MTM1 4534 broad.mit.edu GRCh37 X 149809889 149809889 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown x x x ENST00000370396.2:c.676C>T p.Pro226Ser p.P226S ENST00000370396 NM_000252.2 226 Cca/Tca 0 Missense_Mutation C 30 MTM1 SNP 23 C T 149560547 149560547 Broad TP53 7157 broad.mit.edu GRCh37 17 7577514 7577516 + inframe_deletion In_Frame_Del DEL GTG GTG - novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.765_767del p.Thr256del p.T256del ENST00000269305 NM_001126112.2 255 atCACa/ata 0 In_Frame_Del GTG 48 TP53 DEL 17 - GTG 7518241 7518239 Broad CNTNAP1 8506 broad.mit.edu GRCh37 17 40842822 40842852 + frameshift_variant Frame_Shift_Del DEL ATGGAGCGGCCATTCCTGGGGGCTATCCAGT ATGGAGCGGCCATTCCTGGGGGCTATCCAGT - novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000264638.4:c.1922_1952del p.Met641ThrfsTer96 p.M641Tfs*96 ENST00000264638 NM_003632.2 641 ATGGAGCGGCCATTCCTGGGGGCTATCCAGTac/ac 0 Frame_Shift_Del ATGGAGCGGCCATTCCTGGGGGCTATCCAGT 8 CNTNAP1 DEL 17 - ATGGAGCGGCCATTCCTGGGGGCTATCCAGT 38096378 38096348 Broad TBP 6908 broad.mit.edu GRCh37 6 170871038 170871040 + inframe_deletion In_Frame_Del DEL CAA CAA - novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000392092.2:c.216_218delACA p.Gln95del p.Q95del ENST00000392092 NM_003194.4 72 CAA/- 0 In_Frame_Del CAA 25 TBP DEL 6 - - 170712965 170712963 Broad PRKDC 5591 broad.mit.edu GRCh37 8 48801126 48801131 + inframe_deletion In_Frame_Del DEL TACAGG TACAGG - novel Unknown TCGA-23-2078-01 TCGA-23-2078-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000314191.2:c.4358_4363del p.Ala1453_Lys1455delinsGlu p.A1453_K1455delinsE ENST00000314191 NM_006904.6 1453 gCCTGTAaa/gaa 0 In_Frame_Del TACAGG 61 PRKDC DEL 8 - TACAGG 48963684 48963679 Broad A2M 2 hgsc.bcm.edu GRCh37 12 9230420 9230420 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000318602.7:c.3153A>C p.Gln1051His p.Q1051H ENST00000318602 NM_000014.4 1051 caA/caC 0 Missense_Mutation T 56 A2M SNP 12 T G 9121687 9121687 Baylor A2M 2 hgsc.bcm.edu GRCh37 12 9264782 9264782 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000318602.7:c.456T>C p.Asp152= p.D152= ENST00000318602 NM_000014.4 152 gaT/gaC 0 Silent A 8 A2M SNP 12 A G 9156049 9156049 Baylor ABCA9 10350 hgsc.bcm.edu GRCh37 17 67012439 67012439 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000340001.4:c.2994T>G p.Phe998Leu p.F998L ENST00000340001 NM_080283.3 998 ttT/ttG 0 Missense_Mutation A 13 ABCA9 SNP 17 A C 64524034 64524034 Baylor ACTR8 93973 hgsc.bcm.edu GRCh37 3 53911334 53911334 + synonymous_variant Silent SNP A A T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000335754.3:c.591T>A p.Pro197= p.P197= ENST00000335754 NM_022899.4 197 ccT/ccA 0 Silent A 7 ACTR8 SNP 3 A T 53886374 53886374 Baylor ALB 213 hgsc.bcm.edu GRCh37 4 74279229 74279229 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295897.4:c.936C>T p.His312= p.H312= ENST00000295897 NM_000477.5 312 caC/caT 0 Silent C 20 ALB SNP 4 C T 74498093 74498093 Baylor ALDH2 217 hgsc.bcm.edu GRCh37 12 112229926 112229927 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261733.2:c.864dupG p.Lys289GlufsTer45 p.K289Efs*45 ENST00000261733 NM_000690.3 286 ctg/ctGg 0 Frame_Shift_Ins - 55 ALDH2 INS 12 - G 110714310 110714309 Baylor AMPD2 271 hgsc.bcm.edu GRCh37 1 110168974 110168974 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000256578.3:c.618C>A p.Asp206Glu p.D206E ENST00000256578 NM_004037.7 206 gaC/gaA 0 Missense_Mutation C 18 AMPD2 SNP 1 C A 109970497 109970497 Baylor ANXA2 302 hgsc.bcm.edu GRCh37 15 60674597 60674598 + frameshift_variant Frame_Shift_Ins INS - - TATA novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000332680.4:c.142_145dup p.Thr49IlefsTer3 p.T49Ifs*3 ENST00000332680 NM_001002858.2 49 act/aTATAct 0 Frame_Shift_Ins - 36 ANXA2 INS 15 - TATA 58461890 58461889 Baylor APC 324 hgsc.bcm.edu GRCh37 5 112175148 112175148 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000257430.4:c.3857A>G p.Glu1286Gly p.E1286G ENST00000257430 NM_000038.5 1286 gAa/gGa 0 Missense_Mutation A 9 APC SNP 5 A G 112203047 112203047 Baylor ARMC4 55130 hgsc.bcm.edu GRCh37 10 28101521 28101521 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000305242.5:c.3055G>T p.Asp1019Tyr p.D1019Y ENST00000305242 NM_018076.2 1019 Gat/Tat 0 Missense_Mutation C 30 ARMC4 SNP 10 C A 28141527 28141527 Baylor ATP1A2 477 hgsc.bcm.edu GRCh37 1 160104401 160104401 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361216.3:c.1955T>C p.Val652Ala p.V652A ENST00000361216 NM_000702.3 652 gTc/gCc 0 Missense_Mutation T 58 ATP1A2 SNP 1 T C 158371025 158371025 Baylor ATP6V1C2 245973 hgsc.bcm.edu GRCh37 2 10904525 10904525 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000272238.4:c.352G>C p.Val118Leu p.V118L ENST00000272238 NM_001039362.1 118 Gtg/Ctg 0 Missense_Mutation G 40 ATP6V1C2 SNP 2 G C 10821976 10821976 Baylor ATP8B1 5205 hgsc.bcm.edu GRCh37 18 55321238 55321238 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000536015.1:c.3001G>T p.Gly1001Trp p.G1001W ENST00000536015 NM_005603.4 1001 Ggg/Tgg 0 Missense_Mutation C 22 ATP8B1 SNP 18 C A 53472236 53472236 Baylor BAZ2B 29994 hgsc.bcm.edu GRCh37 2 160294820 160294820 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000392783.2:c.1287C>A p.Ser429= p.S429= ENST00000392783 NM_013450.2 429 tcC/tcA 0 Silent G 47 BAZ2B SNP 2 G T 160003066 160003066 Baylor BIRC2 329 hgsc.bcm.edu GRCh37 11 102220912 102220912 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000227758.2:c.327C>T p.Ser109= p.S109= ENST00000227758 NM_001166.4 109 agC/agT 0 Silent C 28 BIRC2 SNP 11 C T 101726122 101726122 Baylor BNC1 646 hgsc.bcm.edu GRCh37 15 83932824 83932824 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000345382.2:c.1179C>A p.Asn393Lys p.N393K ENST00000345382 NM_001717.3 393 aaC/aaA 0 Missense_Mutation G 48 BNC1 SNP 15 G T 81723828 81723828 Baylor C11orf30 56946 hgsc.bcm.edu GRCh37 11 76174951 76174951 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000529032.1:c.658G>T p.Val220Phe p.V220F ENST00000529032 220 Gtt/Ttt 0 Missense_Mutation G 36 C11orf30 SNP 11 G T 75852599 75852599 Baylor TICRR 90381 hgsc.bcm.edu GRCh37 15 90145159 90145159 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000268138.7:c.2519A>C p.Glu840Ala p.E840A ENST00000268138 840 gAa/gCa 0 Missense_Mutation A 9 C15orf42 SNP 15 A C 87946163 87946163 Baylor THEMIS2 9473 hgsc.bcm.edu GRCh37 1 28206221 28206221 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000373921.3:c.302C>T p.Thr101Ile p.T101I ENST00000373921 NM_001105556.1 101 aCt/aTt 0 Missense_Mutation C 20 C1orf38 SNP 1 C T 28078808 28078808 Baylor C1QL3 389941 hgsc.bcm.edu GRCh37 10 16556654 16556654 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000298943.3:c.641G>C p.Ser214Thr p.S214T ENST00000298943 NM_001010908.1 214 aGt/aCt 0 Missense_Mutation C 20 C1QL3 SNP 10 C G 16596660 16596660 Baylor PAXBP1 94104 hgsc.bcm.edu GRCh37 21 34134621 34134621 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000331923.4:c.657T>G p.Ile219Met p.I219M ENST00000331923 NM_016631.3 219 atT/atG 0 Missense_Mutation A 9 GCFC1 SNP 21 A C 33056492 33056492 Baylor C3orf30 152405 hgsc.bcm.edu GRCh37 3 118866331 118866331 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295622.1:c.1295T>C p.Phe432Ser p.F432S ENST00000295622 NM_152539.2 432 tTc/tCc 0 Missense_Mutation T 62 C3orf30 SNP 3 T C 120349021 120349021 Baylor ARMC12 221481 hgsc.bcm.edu GRCh37 6 35716375 35716375 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000288065.2:c.832G>T p.Val278Leu p.V278L ENST00000288065 NM_145028.3 278 Gta/Tta 0 Missense_Mutation G 44 C6orf81 SNP 6 G T 35824353 35824353 Baylor C8orf76 84933 hgsc.bcm.edu GRCh37 8 124232410 124232410 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000276704.4:c.1076G>T p.Arg359Ile p.R359I ENST00000276704 NM_032847.2 359 aGa/aTa 0 Missense_Mutation C 32 C8orf76 SNP 8 C A 124301591 124301591 Baylor CACNA1A 773 hgsc.bcm.edu GRCh37 19 13323516 13323521 + inframe_deletion In_Frame_Del DEL CGGGGG CGGGGG - novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 CGGGGG CGGGGG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360228.5:c.5974_5979del p.Pro1992_Pro1993del p.P1992_P1993del ENST00000360228 NM_001127222.1 1992 CCCCCG/- 0 In_Frame_Del CGGGGG 19 CACNA1A DEL 19 CGGGGG - 13184521 13184516 Baylor CCDC141 285025 hgsc.bcm.edu GRCh37 2 179718205 179718205 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000420890.2:c.3207G>T p.Arg1069Ser p.R1069S ENST00000420890 NM_173648.3 1069 agG/agT 0 Missense_Mutation C 30 CCDC141 SNP 2 C A 179426450 179426450 Baylor CCNF 899 hgsc.bcm.edu GRCh37 16 2495506 2495506 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000397066.4:c.977T>C p.Phe326Ser p.F326S ENST00000397066 NM_001761.2 326 tTc/tCc 0 Missense_Mutation T 62 CCNF SNP 16 T C 2435507 2435507 Baylor CDH11 1009 hgsc.bcm.edu GRCh37 16 64981959 64981959 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000268603.4:c.1938A>T p.Glu646Asp p.E646D ENST00000268603 NM_001797.2 646 gaA/gaT 0 Missense_Mutation T 60 CDH11 SNP 16 T A 63539460 63539460 Baylor CDH18 1016 hgsc.bcm.edu GRCh37 5 19721516 19721516 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000507958.1:c.583G>A p.Ala195Thr p.A195T ENST00000507958 195 Gct/Act 0 Missense_Mutation C 27 CDH18 SNP 5 C T 19757273 19757273 Baylor CEACAM20 125931 hgsc.bcm.edu GRCh37 19 45016138 45016138 + splice_acceptor_variant,non_coding_transcript_variant Splice_Site SNP T T C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000454753.1:n.1794-2A>G p.X598_splice ENST00000454753 0 Splice_Site_SNP T 53 CEACAM20 SNP 19 T C 49707978 49707978 Baylor CLIP4 79745 hgsc.bcm.edu GRCh37 2 29366687 29366687 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000320081.5:c.761C>T p.Ala254Val p.A254V ENST00000320081 NM_024692.4 254 gCg/gTg 0 Missense_Mutation C 27 CLIP4 SNP 2 C T 29220191 29220191 Baylor CLU 1191 hgsc.bcm.edu GRCh37 8 27462569 27462569 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000316403.10:c.701C>T p.Pro234Leu p.P234L ENST00000316403 234 cCg/cTg 0 Missense_Mutation G 39 CLU SNP 8 G A 27518486 27518486 Baylor CNGA1 1259 hgsc.bcm.edu GRCh37 4 47939097 47939097 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000402813.3:c.1621G>C p.Asp541His p.D541H ENST00000402813 541 Gac/Cac 0 Missense_Mutation C 32 CNGA1 SNP 4 C G 47633854 47633854 Baylor CREBBP 1387 hgsc.bcm.edu GRCh37 16 3789724 3789724 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000262367.5:c.4135T>G p.Phe1379Val p.F1379V ENST00000262367 NM_004380.2 1379 Ttt/Gtt 0 Missense_Mutation A 2 CREBBP SNP 16 A C 3729725 3729725 Baylor CSF1 1435 hgsc.bcm.edu GRCh37 1 110464475 110464475 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000329608.6:c.403G>A p.Val135Ile p.V135I ENST00000329608 NM_000757.5 135 Gtc/Atc 0 Missense_Mutation G 40 CSF1 SNP 1 G A 110265998 110265998 Baylor CSF2RB 1439 hgsc.bcm.edu GRCh37 22 37322081 37322081 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000403662.3:c.253G>T p.Ala85Ser p.A85S ENST00000403662 85 Gcc/Tcc 0 Missense_Mutation G 34 CSF2RB SNP 22 G T 35652027 35652027 Baylor DDB1 1642 hgsc.bcm.edu GRCh37 11 61079464 61079464 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000301764.7:c.2162C>T p.Pro721Leu p.P721L ENST00000301764 NM_001923.4 721 cCa/cTa 0 Missense_Mutation G 47 DDB1 SNP 11 G A 60836040 60836040 Baylor DNMBP 23268 hgsc.bcm.edu GRCh37 10 101716493 101716493 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000324109.4:c.738C>A p.Thr246= p.T246= ENST00000324109 NM_015221.2 246 acC/acA 0 Silent G 35 DNMBP SNP 10 G T 101706483 101706483 Baylor DSP 1832 hgsc.bcm.edu GRCh37 6 7583708 7583708 + synonymous_variant Silent SNP T T C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000379802.3:c.6213T>C p.Ser2071= p.S2071= ENST00000379802 NM_004415.2 2071 agT/agC 0 Silent T 59 DSP SNP 6 T C 7528707 7528707 Baylor DYRK1A 1859 hgsc.bcm.edu GRCh37 21 38862659 38862659 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000398960.2:c.847A>G p.Ile283Val p.I283V ENST00000398960 NM_001396.3 283 Atc/Gtc 0 Missense_Mutation A 16 DYRK1A SNP 21 A G 37784529 37784529 Baylor ECT2 1894 hgsc.bcm.edu GRCh37 3 172473089 172473089 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000392692.3:c.135G>C p.Glu45Asp p.E45D ENST00000392692 NM_001258315.1 45 gaG/gaC 0 Missense_Mutation G 33 ECT2 SNP 3 G C 173955783 173955783 Baylor EFHC2 80258 hgsc.bcm.edu GRCh37 X 44120529 44120529 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000420999.1:c.398G>A p.Arg133His p.R133H ENST00000420999 NM_025184.3 133 cGt/cAt 0 Missense_Mutation C 19 EFHC2 SNP 23 C T 44005473 44005473 Baylor ENTPD5 957 hgsc.bcm.edu GRCh37 14 74449771 74449771 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000334696.6:c.391G>C p.Ala131Pro p.A131P ENST00000334696 NM_001249.2 131 Gca/Cca 0 Missense_Mutation C 28 ENTPD5 SNP 14 C G 73519524 73519524 Baylor ERCC6L 54821 hgsc.bcm.edu GRCh37 X 71424880 71424880 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000334463.3:c.3737A>C p.Gln1246Pro p.Q1246P ENST00000334463 NM_017669.2 1246 cAa/cCa 0 Missense_Mutation T 63 ERCC6L SNP 23 T G 71341605 71341605 Baylor FAM171A1 221061 hgsc.bcm.edu GRCh37 10 15296825 15296825 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378116.4:c.472G>T p.Glu158Ter p.E158* ENST00000378116 NM_001010924.1 158 Gag/Tag 0 Nonsense_Mutation C 29 FAM171A1 SNP 10 C A 15336831 15336831 Baylor ESYT1 23344 hgsc.bcm.edu GRCh37 12 56522339 56522339 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000541590.1:c.236G>T p.Gly79Val p.G79V ENST00000541590 79 gGt/gTt 0 Missense_Mutation G 44 ESYT1 SNP 12 G T 54808606 54808606 Baylor RMDN1 51115 hgsc.bcm.edu GRCh37 8 87498713 87498713 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000406452.3:c.495G>A p.Lys165= p.K165= ENST00000406452 NM_016033.2 165 aaG/aaA 0 Silent C 24 FAM82B SNP 8 C T 87567829 87567829 Baylor FAM8A1 51439 hgsc.bcm.edu GRCh37 6 17605166 17605166 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000259963.3:c.863T>C p.Ile288Thr p.I288T ENST00000259963 NM_016255.2 288 aTa/aCa 0 Missense_Mutation T 49 FAM8A1 SNP 6 T C 17713145 17713145 Baylor FARP2 9855 hgsc.bcm.edu GRCh37 2 242429383 242429383 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264042.3:c.2428G>C p.Glu810Gln p.E810Q ENST00000264042 NM_014808.2 810 Gaa/Caa 0 Missense_Mutation G 33 FARP2 SNP 2 G C 242078056 242078056 Baylor FAT1 2195 hgsc.bcm.edu GRCh37 4 187525621 187525621 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000441802.2:c.10458G>C p.Glu3486Asp p.E3486D ENST00000441802 NM_005245.3 3486 gaG/gaC 0 Missense_Mutation C 32 FAT1 SNP 4 C G 187762615 187762615 Baylor FAT2 2196 hgsc.bcm.edu GRCh37 5 150924102 150924102 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261800.5:c.6586C>A p.Arg2196= p.R2196= ENST00000261800 NM_001447.2 2196 Cgg/Agg 0 Silent G 39 FAT2 SNP 5 G T 150904295 150904295 Baylor FGD3 89846 hgsc.bcm.edu GRCh37 9 95765242 95765242 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375482.3:c.489G>A p.Gln163= p.Q163= ENST00000375482 NM_001083536.1 163 caG/caA 0 Silent G 35 FGD3 SNP 9 G A 94805063 94805063 Baylor FGD6 55785 hgsc.bcm.edu GRCh37 12 95566398 95566398 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000343958.4:c.2564C>A p.Pro855His p.P855H ENST00000343958 NM_018351.3 855 cCt/cAt 0 Missense_Mutation G 35 FGD6 SNP 12 G T 94090529 94090529 Baylor FGF12 2257 hgsc.bcm.edu GRCh37 3 192078254 192078254 + synonymous_variant Silent SNP A A T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000454309.2:c.273T>A p.Gly91= p.G91= ENST00000454309 NM_021032.4 91 ggT/ggA 0 Silent A 14 FGF12 SNP 3 A T 193560948 193560948 Baylor FRMD4B 23150 hgsc.bcm.edu GRCh37 3 69244235 69244235 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000398540.3:c.1426C>A p.Gln476Lys p.Q476K ENST00000398540 NM_015123.1 476 Cag/Aag 0 Missense_Mutation G 45 FRMD4B SNP 3 G T 69326925 69326925 Baylor FSTL5 56884 hgsc.bcm.edu GRCh37 4 162680656 162680656 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000306100.5:c.634G>C p.Asp212His p.D212H ENST00000306100 NM_001128427.2 212 Gat/Cat 0 Missense_Mutation C 30 FSTL5 SNP 4 C G 162900106 162900106 Baylor GABARAPL2 11345 hgsc.bcm.edu GRCh37 16 75611250 75611250 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000037243.2:c.337A>G p.Asn113Asp p.N113D ENST00000037243 NM_007285.6 113 Aac/Gac 0 Missense_Mutation A 9 GABARAPL2 SNP 16 A G 74168751 74168751 Baylor GART 2618 hgsc.bcm.edu GRCh37 21 34893293 34893293 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381831.3:c.1423G>C p.Gly475Arg p.G475R ENST00000381831 NM_001136005.1 475 Ggt/Cgt 0 Missense_Mutation C 21 GART SNP 21 C G 33815163 33815163 Baylor GAS2 2620 hgsc.bcm.edu GRCh37 11 22707267 22707267 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000454584.2:c.199C>A p.Leu67Ile p.L67I ENST00000454584 NM_001143830.1 67 Ctc/Atc 0 Missense_Mutation C 28 GAS2 SNP 11 C A 22663843 22663843 Baylor GHRL 51738 hgsc.bcm.edu GRCh37 3 10328459 10328459 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000335542.8:c.263G>T p.Gly88Val p.G88V ENST00000335542 88 gGg/gTg 0 Missense_Mutation C 22 GHRL SNP 3 C A 10303459 10303459 Baylor GJB6 10804 hgsc.bcm.edu GRCh37 13 20797042 20797042 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356192.6:c.578T>A p.Ile193Asn p.I193N ENST00000356192 NM_001110219.2 193 aTt/aAt 0 Missense_Mutation A 4 GJB6 SNP 13 A T 19695042 19695042 Baylor HKDC1 80201 hgsc.bcm.edu GRCh37 10 71010108 71010108 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354624.5:c.1633A>G p.Ile545Val p.I545V ENST00000354624 NM_025130.3 545 Atc/Gtc 0 Missense_Mutation A 12 HKDC1 SNP 10 A G 70680114 70680114 Baylor IBTK 25998 hgsc.bcm.edu GRCh37 6 82921274 82921274 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000306270.7:c.2307C>G p.Asp769Glu p.D769E ENST00000306270 NM_015525.2 769 gaC/gaG 0 Missense_Mutation G 40 IBTK SNP 6 G C 82977993 82977993 Baylor IFFO1 25900 hgsc.bcm.edu GRCh37 12 6660116 6660129 + frameshift_variant Frame_Shift_Del DEL CTCATTTACACGGT CTCATTTACACGGT - novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 CTCATTTACACGGT CTCATTTACACGGT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356896.4:c.812_825del p.Asp271AlafsTer9 p.D271Afs*9 ENST00000356896 NM_001039670.2 271 gACCGTGTAAATGAG/g 0 Frame_Shift_Del CTCATTTACACGGT 28 IFFO1 DEL 12 CTCATTTACACGGT - 6530390 6530377 Baylor IL20RB 53833 hgsc.bcm.edu GRCh37 3 136708314 136708314 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000329582.4:c.438C>T p.Thr146= p.T146= ENST00000329582 NM_144717.3 146 acC/acT 0 Silent C 21 IL20RB SNP 3 C T 138191004 138191004 Baylor IMMT 10989 hgsc.bcm.edu GRCh37 2 86398441 86398441 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000410111.3:c.449C>T p.Ser150Phe p.S150F ENST00000410111 NM_001100169.1 150 tCt/tTt 0 Missense_Mutation G 33 IMMT SNP 2 G A 86251952 86251952 Baylor IRF6 3664 hgsc.bcm.edu GRCh37 1 209964227 209964227 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367021.3:c.673G>C p.Asp225His p.D225H ENST00000367021 NM_006147.3 225 Gac/Cac 0 Missense_Mutation C 29 IRF6 SNP 1 C G 208030850 208030850 Baylor ITIH5 80760 hgsc.bcm.edu GRCh37 10 7621907 7621907 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000256861.6:c.1229C>G p.Thr410Arg p.T410R ENST00000256861 NM_030569.6 410 aCg/aGg 0 Missense_Mutation G 40 ITIH5 SNP 10 G C 7661913 7661913 Baylor KCNJ12 3768 hgsc.bcm.edu GRCh37 17 21319682 21319682 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000583088.1:c.1028C>T p.Ser343Leu p.S343L ENST00000583088 NM_021012.4 343 tCg/tTg 0 Missense_Mutation C 31 KCNJ12 SNP 17 C T 21260275 21260275 Baylor KCNJ15 3772 hgsc.bcm.edu GRCh37 21 39672138 39672138 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328656.4:c.955A>T p.Lys319Ter p.K319* ENST00000328656 NM_002243.4 319 Aaa/Taa 0 Nonsense_Mutation A 5 KCNJ15 SNP 21 A T 38594008 38594008 Baylor KRT38 8687 hgsc.bcm.edu GRCh37 17 39595593 39595593 + synonymous_variant Silent SNP G G C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000246646.3:c.594C>G p.Ser198= p.S198= ENST00000246646 NM_006771.3 198 tcC/tcG 0 Silent G 43 KRT38 SNP 17 G C 36849119 36849119 Baylor LARP1 23367 hgsc.bcm.edu GRCh37 5 154174736 154174736 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000336314.4:c.1003G>A p.Glu335Lys p.E335K ENST00000336314 NM_015315.4 335 Gaa/Aaa 0 Missense_Mutation G 45 LARP1 SNP 5 G A 154154929 154154929 Baylor LRRC63 220416 hgsc.bcm.edu GRCh37 13 46802066 46802066 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000595396.1:c.505C>A p.Gln169Lys p.Q169K ENST00000595396 NM_001282460.1 169 Caa/Aaa 0 Missense_Mutation C 29 LRRC63 SNP 13 C A 45700067 45700067 Baylor MAP3K7 6885 hgsc.bcm.edu GRCh37 6 91281513 91281513 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369329.3:c.134G>T p.Gly45Val p.G45V ENST00000369329 NM_145331.2 45 gGa/gTa 0 Missense_Mutation C 30 MAP3K7 SNP 6 C A 91338234 91338234 Baylor MED24 9862 hgsc.bcm.edu GRCh37 17 38182907 38182907 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000394128.2:c.1802C>T p.Ser601Phe p.S601F ENST00000394128 NM_014815.3 601 tCc/tTc 0 Missense_Mutation G 41 MED24 SNP 17 G A 35436433 35436433 Baylor KMT2C 58508 hgsc.bcm.edu GRCh37 7 151873627 151873627 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000262189.6:c.8911T>G p.Ser2971Ala p.S2971A ENST00000262189 NM_170606.2 2971 Tct/Gct 0 Missense_Mutation A 9 MLL3 SNP 7 A C 151504560 151504560 Baylor MTERFD1 51001 hgsc.bcm.edu GRCh37 8 97251801 97251801 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000287025.3:c.1172T>C p.Val391Ala p.V391A ENST00000287025 NM_015942.3 391 gTa/gCa 0 Missense_Mutation A 14 MTERFD1 SNP 8 A G 97320977 97320977 Baylor MTOR 2475 hgsc.bcm.edu GRCh37 1 11291383 11291383 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361445.4:c.2623G>A p.Glu875Lys p.E875K ENST00000361445 NM_004958.3 875 Gag/Aag 0 Missense_Mutation C 29 MTOR SNP 1 C T 11213970 11213970 Baylor MYO18A 399687 hgsc.bcm.edu GRCh37 17 27419382 27419382 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000527372.1:c.5166C>G p.Asp1722Glu p.D1722E ENST00000527372 NM_078471.3 1722 gaC/gaG 0 Missense_Mutation G 48 MYO18A SNP 17 G C 24443508 24443508 Baylor N4BP1 9683 hgsc.bcm.edu GRCh37 16 48595734 48595734 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262384.3:c.820G>C p.Glu274Gln p.E274Q ENST00000262384 NM_153029.3 274 Gag/Cag 0 Missense_Mutation C 32 N4BP1 SNP 16 C G 47153235 47153235 Baylor NFX1 4799 hgsc.bcm.edu GRCh37 9 33313762 33313762 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000379540.3:c.1559G>A p.Cys520Tyr p.C520Y ENST00000379540 NM_002504.4 520 tGc/tAc 0 Missense_Mutation G 46 NFX1 SNP 9 G A 33303762 33303762 Baylor NOS1 4842 hgsc.bcm.edu GRCh37 12 117726007 117726007 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000338101.4:c.999G>C p.Glu333Asp p.E333D ENST00000338101 333 gaG/gaC 0 Missense_Mutation C 20 NOS1 SNP 12 C G 116210390 116210390 Baylor NT5E 4907 hgsc.bcm.edu GRCh37 6 86200329 86200329 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000257770.3:c.1314C>T p.Ser438= p.S438= ENST00000257770 NM_002526.3 438 agC/agT 0 Silent C 27 NT5E SNP 6 C T 86257048 86257048 Baylor OR4F4 26682 hgsc.bcm.edu GRCh37 15 102463187 102463188 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000326183.3:c.75dup p.Val26CysfsTer20 p.V26Cfs*20 ENST00000326183 NM_001004195.2 25 -/T 0 Frame_Shift_Ins - 17 OR4F4 INS 15 - A 100280711 100280710 Baylor OR8I2 120586 hgsc.bcm.edu GRCh37 11 55861307 55861307 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302124.2:c.524del p.His175LeufsTer10 p.H175Lfs*10 ENST00000302124 NM_001003750.1 175 cAt/ct 0 Frame_Shift_Del A 8 OR8I2 DEL 11 A - 55617883 55617883 Baylor OR9G4 283189 hgsc.bcm.edu GRCh37 11 56510430 56510430 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302957.3:c.858C>G p.Asp286Glu p.D286E ENST00000302957 NM_001005284.1 286 gaC/gaG 0 Missense_Mutation G 48 OR9G4 SNP 11 G C 56267006 56267006 Baylor OTOA 146183 hgsc.bcm.edu GRCh37 16 21739658 21739658 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000388958.3:c.2113G>A p.Ala705Thr p.A705T ENST00000388958 NM_144672.3 705 Gct/Act 0 Missense_Mutation G 42 OTOA SNP 16 G A 21647159 21647159 Baylor PABPC1 26986 hgsc.bcm.edu GRCh37 8 101719201 101719201 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000318607.5:c.1361T>C p.Ile454Thr p.I454T ENST00000318607 NM_002568.3 454 aTc/aCc 0 Missense_Mutation A 12 PABPC1 SNP 8 A G 101788377 101788377 Baylor PAOX 196743 hgsc.bcm.edu GRCh37 10 135194999 135195004 + inframe_deletion In_Frame_Del DEL CCCTGC CCCTGC - novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 CCCTGC CCCTGC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000278060.5:c.705_710del p.Leu236_Pro237del p.L236_P237del ENST00000278060 NM_152911.2 235 gCCCTGCcg/gcg 0 In_Frame_Del CCCTGC 26 PAOX DEL 10 CCCTGC - 135044994 135044989 Baylor PLA2G15 23659 hgsc.bcm.edu GRCh37 16 68283281 68283281 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000219345.5:c.216C>T p.Tyr72= p.Y72= ENST00000219345 NM_012320.3 72 taC/taT 0 Silent C 20 PLA2G15 SNP 16 C T 66840782 66840782 Baylor PON3 5446 hgsc.bcm.edu GRCh37 7 94993257 94993257 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000265627.5:c.613C>G p.Leu205Val p.L205V ENST00000265627 NM_000940.2 205 Ctt/Gtt 0 Missense_Mutation G 33 PON3 SNP 7 G C 94831193 94831193 Baylor POPDC3 64208 hgsc.bcm.edu GRCh37 6 105609554 105609554 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000254765.3:c.231A>G p.Ile77Met p.I77M ENST00000254765 NM_022361.4 77 atA/atG 0 Missense_Mutation T 49 POPDC3 SNP 6 T C 105716247 105716247 Baylor PSMC3 5702 hgsc.bcm.edu GRCh37 11 47446256 47446256 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000298852.3:c.292G>C p.Asp98His p.D98H ENST00000298852 NM_002804.4 98 Gat/Cat 0 Missense_Mutation C 30 PSMC3 SNP 11 C G 47402832 47402832 Baylor PSORS1C1 170679 hgsc.bcm.edu GRCh37 6 31106233 31106233 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000259881.9:c.40C>G p.Leu14Val p.L14V ENST00000259881 NM_014068.2 14 Ctc/Gtc 0 Missense_Mutation C 32 PSORS1C1 SNP 6 C G 31214212 31214212 Baylor PTPN3 5774 hgsc.bcm.edu GRCh37 9 112144675 112144675 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374541.2:c.2435A>T p.His812Leu p.H812L ENST00000374541 NM_001145368.1 812 cAc/cTc 0 Missense_Mutation T 59 PTPN3 SNP 9 T A 111184496 111184496 Baylor PTPN3 5774 hgsc.bcm.edu GRCh37 9 112144677 112144677 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374541.2:c.2433C>A p.Asp811Glu p.D811E ENST00000374541 NM_001145368.1 811 gaC/gaA 0 Missense_Mutation G 44 PTPN3 SNP 9 G T 111184498 111184498 Baylor PURG 29942 hgsc.bcm.edu GRCh37 8 30889499 30889500 + frameshift_variant Frame_Shift_Del DEL AA AA - novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 AA AA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000475541.1:c.799_800del p.Phe267GlnfsTer5 p.F267Qfs*5 ENST00000475541 NM_013357.2 267 TTc/c 0 Frame_Shift_Del AA 9 PURG DEL 8 AA - 31009042 31009041 Baylor PXDNL 137902 hgsc.bcm.edu GRCh37 8 52336197 52336197 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356297.4:c.1733A>G p.Tyr578Cys p.Y578C ENST00000356297 NM_144651.4 578 tAt/tGt 0 Missense_Mutation T 49 PXDNL SNP 8 T C 52498750 52498750 Baylor RAB41 347517 hgsc.bcm.edu GRCh37 X 69504160 69504160 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000276066.4:c.591A>G p.Ser197= p.S197= ENST00000276066 NM_001032726.2 197 tcA/tcG 0 Silent A 6 RAB41 SNP 23 A G 69420885 69420885 Baylor RABEP1 9135 hgsc.bcm.edu GRCh37 17 5286419 5286419 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262477.6:c.2490G>A p.Val830= p.V830= ENST00000262477 NM_004703.4 830 gtG/gtA 0 Silent G 46 RABEP1 SNP 17 G A 5227143 5227143 Baylor RBPJL 11317 hgsc.bcm.edu GRCh37 20 43942111 43942111 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000343694.3:c.623G>T p.Cys208Phe p.C208F ENST00000343694 NM_001281449.1 208 tGc/tTc 0 Missense_Mutation G 46 RBPJL SNP 20 G T 43375525 43375525 Baylor REV1 51455 hgsc.bcm.edu GRCh37 2 100020219 100020219 + synonymous_variant Silent SNP C C G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000258428.3:c.3105G>C p.Ala1035= p.A1035= ENST00000258428 NM_001037872.1 1035 gcG/gcC 0 Silent C 19 REV1 SNP 2 C G 99386651 99386651 Baylor RIPK3 11035 hgsc.bcm.edu GRCh37 14 24807486 24807486 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000216274.5:c.633G>A p.Met211Ile p.M211I ENST00000216274 NM_006871.3 211 atG/atA 0 Missense_Mutation C 17 RIPK3 SNP 14 C T 23877326 23877326 Baylor LTN1 26046 hgsc.bcm.edu GRCh37 21 30339206 30339206 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000389194.2:c.1745delA p.Asn582MetfsTer33 p.N582Mfs*33 ENST00000389194 NM_015565.2 582 aAt/at 0 Frame_Shift_Del T 52 RNF160 DEL 21 T - 29261077 29261077 Baylor RNF25 64320 hgsc.bcm.edu GRCh37 2 219529146 219529146 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295704.2:c.914C>T p.Pro305Leu p.P305L ENST00000295704 NM_022453.2 305 cCa/cTa 0 Missense_Mutation G 47 RNF25 SNP 2 G A 219237390 219237390 Baylor SAMD12 401474 hgsc.bcm.edu GRCh37 8 119391906 119391906 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000314727.4:c.356T>G p.Leu119Arg p.L119R ENST00000314727 NM_207506.2 119 cTc/cGc 0 Missense_Mutation A 11 SAMD12 SNP 8 A C 119461087 119461087 Baylor SCUBE3 222663 hgsc.bcm.edu GRCh37 6 35207534 35207534 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000274938.7:c.835G>C p.Asp279His p.D279H ENST00000274938 NM_152753.2 279 Gat/Cat 0 Missense_Mutation G 33 SCUBE3 SNP 6 G C 35315512 35315512 Baylor SEMA3A 10371 hgsc.bcm.edu GRCh37 7 83640541 83640541 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265362.4:c.883G>T p.Val295Leu p.V295L ENST00000265362 NM_006080.2 295 Gtg/Ttg 0 Missense_Mutation C 20 SEMA3A SNP 7 C A 83478477 83478477 Baylor SHQ1 55164 hgsc.bcm.edu GRCh37 3 72866458 72866458 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000325599.8:c.805C>A p.Arg269Ser p.R269S ENST00000325599 NM_018130.2 269 Cgt/Agt 0 Missense_Mutation G 37 SHQ1 SNP 3 G T 72949148 72949148 Baylor SIRPD 128646 hgsc.bcm.edu GRCh37 20 1532452 1532452 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381623.3:c.306C>A p.Thr102= p.T102= ENST00000381623 102 acC/acA 0 Silent G 43 SIRPD SNP 20 G T 1480452 1480452 Baylor SLC30A5 64924 hgsc.bcm.edu GRCh37 5 68412417 68412417 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000396591.3:c.1269G>T p.Leu423Phe p.L423F ENST00000396591 NM_022902.4 423 ttG/ttT 0 Missense_Mutation G 48 SLC30A5 SNP 5 G T 68448173 68448173 Baylor SLC35F5 80255 hgsc.bcm.edu GRCh37 2 114500277 114500277 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000245680.2:c.742del p.Cys248AlafsTer22 p.C248Afs*22 ENST00000245680 NM_025181.2 248 Tgc/gc 0 Frame_Shift_Del A 5 SLC35F5 DEL 2 A - 114216747 114216747 Baylor SLC36A3 285641 hgsc.bcm.edu GRCh37 5 150657103 150657103 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377713.3:c.1387G>C p.Glu463Gln p.E463Q ENST00000377713 NM_001145017.1 463 Gag/Cag 0 Missense_Mutation C 29 SLC36A3 SNP 5 C G 150637296 150637296 Baylor SLC44A5 204962 hgsc.bcm.edu GRCh37 1 75684941 75684941 + splice_donor_variant Splice_Site SNP C C G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370855.5:c.1266+1G>C p.X422_splice ENST00000370855 NM_152697.4 0 Splice_Site_SNP C 18 SLC44A5 SNP 1 C G 75457529 75457529 Baylor SLC6A15 55117 hgsc.bcm.edu GRCh37 12 85285812 85285812 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000266682.5:c.88G>A p.Ala30Thr p.A30T ENST00000266682 NM_182767.5 30 Gct/Act 0 Missense_Mutation C 28 SLC6A15 SNP 12 C T 83809943 83809943 Baylor SOSTDC1 25928 hgsc.bcm.edu GRCh37 7 16502439 16502439 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000307068.4:c.355G>A p.Gly119Arg p.G119R ENST00000307068 NM_015464.2 119 Gga/Aga 0 Missense_Mutation C 21 SOSTDC1 SNP 7 C T 16468964 16468964 Baylor SPDEF 25803 hgsc.bcm.edu GRCh37 6 34507169 34507169 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374037.3:c.687G>T p.Ser229= p.S229= ENST00000374037 NM_012391.2 229 tcG/tcT 0 Silent C 31 SPDEF SNP 6 C A 34615147 34615147 Baylor SPDYE4 388333 hgsc.bcm.edu GRCh37 17 8661674 8661682 + inframe_deletion In_Frame_Del DEL CGGGGGGCG CGGGGGGCG - novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 CGGGGGGCG CGGGGGGCG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328794.6:c.19_27del p.Arg7_Pro9del p.R7_P9del ENST00000328794 NM_001128076.1 7 CGCCCCCCG/- 0 In_Frame_Del CGGGGGGCG 19 SPDYE4 DEL 17 CGGGGGGCG - 8602407 8602399 Baylor SPG11 80208 hgsc.bcm.edu GRCh37 15 44912464 44912464 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261866.7:c.2758C>T p.Leu920= p.L920= ENST00000261866 NM_025137.3 920 Ctg/Ttg 0 Silent G 33 SPG11 SNP 15 G A 42699756 42699756 Baylor SVEP1 79987 hgsc.bcm.edu GRCh37 9 113169539 113169539 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000401783.2:c.8341G>A p.Val2781Ile p.V2781I ENST00000401783 NM_153366.3 2781 Gtc/Atc 0 Missense_Mutation C 20 SVEP1 SNP 9 C T 112209360 112209360 Baylor SVEP1 79987 hgsc.bcm.edu GRCh37 9 113241982 113241982 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000401783.2:c.2420C>G p.Ala807Gly p.A807G ENST00000401783 NM_153366.3 807 gCt/gGt 0 Missense_Mutation G 34 SVEP1 SNP 9 G C 112281803 112281803 Baylor SYNE1 23345 hgsc.bcm.edu GRCh37 6 152639315 152639315 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367255.5:c.16473C>A p.Gly5491= p.G5491= ENST00000367255 NM_182961.3 5491 ggC/ggA 0 Silent G 42 SYNE1 SNP 6 G T 152681008 152681008 Baylor TBC1D7 51256 hgsc.bcm.edu GRCh37 6 13321193 13321193 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000606214.1:c.328C>T p.Arg110Cys p.R110C ENST00000606214 110 Cgc/Tgc 0 Missense_Mutation G 39 TBC1D7 SNP 6 G A 13429172 13429172 Baylor TCHHL1 126637 hgsc.bcm.edu GRCh37 1 152059235 152059235 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368806.1:c.923A>T p.Glu308Val p.E308V ENST00000368806 NM_001008536.1 308 gAa/gTa 0 Missense_Mutation T 62 TCHHL1 SNP 1 T A 150325859 150325859 Baylor TGFBR3 7049 hgsc.bcm.edu GRCh37 1 92224274 92224274 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000212355.4:c.280C>A p.His94Asn p.H94N ENST00000212355 NM_001195683.1 94 Cac/Aac 0 Missense_Mutation G 47 TGFBR3 SNP 1 G T 91996862 91996862 Baylor TMEM33 55161 hgsc.bcm.edu GRCh37 4 41956173 41956173 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000504986.1:c.701A>C p.Gln234Pro p.Q234P ENST00000504986 NM_018126.2 234 cAg/cCg 0 Missense_Mutation A 7 TMEM33 SNP 4 A C 41650930 41650930 Baylor TNNI3K 51086 hgsc.bcm.edu GRCh37 1 74905203 74905203 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370891.2:c.2211C>T p.Phe737= p.F737= ENST00000370891 NM_001112808.2 737 ttC/ttT 0 Silent C 29 TNNI3K SNP 1 C T 74677791 74677791 Baylor CELF3 11189 hgsc.bcm.edu GRCh37 1 151681510 151681510 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000290583.4:c.450G>A p.Ala150= p.A150= ENST00000290583 NM_001172648.1 150 gcG/gcA 0 Silent C 23 CELF3 SNP 1 C T 149948134 149948134 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577548 7577548 + missense_variant Missense_Mutation SNP C C T rs28934575 Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269305.4:c.733G>A p.Gly245Ser p.G245S ENST00000269305 NM_001126112.2 245 Ggc/Agc 0 Missense_Mutation C 23 TP53 SNP 17 C T 7518273 7518273 Baylor TRIM21 6737 hgsc.bcm.edu GRCh37 11 4408208 4408208 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000254436.7:c.748G>C p.Val250Leu p.V250L ENST00000254436 NM_003141.3 250 Gtc/Ctc 0 Missense_Mutation C 17 TRIM21 SNP 11 C G 4364784 4364784 Baylor TRPV3 162514 hgsc.bcm.edu GRCh37 17 3427614 3427614 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000301365.4:c.1621T>C p.Leu541= p.L541= ENST00000301365 541 Ttg/Ctg 0 Silent A 3 TRPV3 SNP 17 A G 3374364 3374364 Baylor TTN 7273 hgsc.bcm.edu GRCh37 2 179435114 179435114 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000589042.1:c.75745C>A p.Arg25249Ser p.R25249S ENST00000589042 NM_001267550.1 25249 Cgc/Agc 0 Missense_Mutation G 39 TTN SNP 2 G T 179143360 179143360 Baylor TULP2 7288 hgsc.bcm.edu GRCh37 19 49385314 49385314 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000221399.3:c.1422C>A p.Asn474Lys p.N474K ENST00000221399 NM_003323.2 474 aaC/aaA 0 Missense_Mutation G 36 TULP2 SNP 19 G T 54077126 54077126 Baylor UBAP2 55833 hgsc.bcm.edu GRCh37 9 33927935 33927935 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000379238.1:c.2231C>G p.Ala744Gly p.A744G ENST00000379238 744 gCa/gGa 0 Missense_Mutation G 46 UBAP2 SNP 9 G C 33917935 33917935 Baylor UIMC1 51720 hgsc.bcm.edu GRCh37 5 176395727 176395727 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377227.4:c.1029T>G p.Ser343Arg p.S343R ENST00000377227 343 agT/agG 0 Missense_Mutation A 6 UIMC1 SNP 5 A C 176328333 176328333 Baylor UNC5B 219699 hgsc.bcm.edu GRCh37 10 73047432 73047432 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000335350.6:c.811C>T p.Arg271Trp p.R271W ENST00000335350 NM_170744.4 271 Cgg/Tgg 0 Missense_Mutation C 23 UNC5B SNP 10 C T 72717438 72717438 Baylor USP34 9736 hgsc.bcm.edu GRCh37 2 61438975 61438975 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000398571.2:c.8772C>G p.Phe2924Leu p.F2924L ENST00000398571 NM_014709.3 2924 ttC/ttG 0 Missense_Mutation G 45 USP34 SNP 2 G C 61292479 61292479 Baylor USP34 9736 hgsc.bcm.edu GRCh37 2 61575538 61575538 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000398571.2:c.1752G>T p.Gly584= p.G584= ENST00000398571 NM_014709.3 584 ggG/ggT 0 Silent C 26 USP34 SNP 2 C A 61429042 61429042 Baylor USP47 55031 hgsc.bcm.edu GRCh37 11 11964115 11964115 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000339865.5:c.2343G>A p.Val781= p.V781= ENST00000339865 NM_017944.3 781 gtG/gtA 0 Silent G 47 USP47 SNP 11 G A 11920691 11920691 Baylor VPS52 6293 hgsc.bcm.edu GRCh37 6 33219350 33219350 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000445902.2:c.1970G>A p.Ser657Asn p.S657N ENST00000445902 NM_022553.4 657 aGt/aAt 0 Missense_Mutation C 20 VPS52 SNP 6 C T 33327328 33327328 Baylor VWCE 220001 hgsc.bcm.edu GRCh37 11 61053805 61053805 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000335613.5:c.522C>A p.Ala174= p.A174= ENST00000335613 NM_152718.2 174 gcC/gcA 0 Silent G 39 VWCE SNP 11 G T 60810381 60810381 Baylor WBP1 23559 hgsc.bcm.edu GRCh37 2 74685792 74685792 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000233615.2:c.63A>G p.Gln21= p.Q21= ENST00000233615 NM_012477.3 21 caA/caG 0 Silent A 2 WBP1 SNP 2 A G 74539300 74539300 Baylor WDR88 126248 hgsc.bcm.edu GRCh37 19 33628661 33628661 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355868.3:c.355A>T p.Ser119Cys p.S119C ENST00000355868 NM_173479.3 119 Agt/Tgt 0 Missense_Mutation A 7 WDR88 SNP 19 A T 38320501 38320501 Baylor WFDC1 58189 hgsc.bcm.edu GRCh37 16 84358028 84358028 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000219454.5:c.566G>T p.Gly189Val p.G189V ENST00000219454 NM_001282467.1 189 gGg/gTg 0 Missense_Mutation G 43 WFDC1 SNP 16 G T 82915529 82915529 Baylor WHSC1 7468 hgsc.bcm.edu GRCh37 4 1962765 1962765 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000382891.5:c.3259G>C p.Glu1087Gln p.E1087Q ENST00000382891 NM_133335.3 1087 Gaa/Caa 0 Missense_Mutation G 33 WHSC1 SNP 4 G C 1932563 1932563 Baylor ZCCHC17 51538 hgsc.bcm.edu GRCh37 1 31811817 31811817 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373714.1:c.239G>C p.Arg80Thr p.R80T ENST00000373714 NM_001282570.1 80 aGa/aCa 0 Missense_Mutation G 33 ZCCHC17 SNP 1 G C 31584404 31584404 Baylor ZNF136 7695 hgsc.bcm.edu GRCh37 19 12296714 12296714 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000343979.4:c.118C>G p.Leu40Val p.L40V ENST00000343979 NM_003437.3 40 Ctg/Gtg 0 Missense_Mutation C 32 ZNF136 SNP 19 C G 12157714 12157714 Baylor ZNF185 7739 hgsc.bcm.edu GRCh37 X 152089284 152089284 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000535861.1:c.645C>T p.Ile215= p.I215= ENST00000535861 NM_001178106.1 215 atC/atT 0 Silent C 31 ZNF185 SNP 23 C T 151839940 151839940 Baylor ZNF518B 85460 hgsc.bcm.edu GRCh37 4 10445169 10445169 + synonymous_variant Silent SNP A A C novel Unknown TCGA-04-1338-01 TCGA-04-1338-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000326756.3:c.2784T>G p.Ala928= p.A928= ENST00000326756 NM_053042.2 928 gcT/gcG 0 Silent A 15 ZNF518B SNP 4 A C 10054267 10054267 Baylor BAI2 576 broad.mit.edu GRCh37 1 32221906 32221906 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000373658.3:c.532C>A p.Leu178Ile p.L178I ENST00000373658 NM_001703.2 178 Cta/Ata 0 Missense_Mutation G 35 BAI2 SNP 1 G T 31994493 31994493 Broad KHDRBS1 10657 broad.mit.edu GRCh37 1 32504195 32504195 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000327300.7:c.1150G>A p.Glu384Lys p.E384K ENST00000327300 NM_006559.2 384 Gaa/Aaa 0 Missense_Mutation G 37 KHDRBS1 SNP 1 G A 32276782 32276782 Broad ERMAP 114625 broad.mit.edu GRCh37 1 43308368 43308368 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000372517.2:c.893A>T p.Tyr298Phe p.Y298F ENST00000372517 NM_001017922.1 298 tAt/tTt 0 Missense_Mutation A 16 ERMAP SNP 1 A T 43080955 43080955 Broad EIF2B3 8891 broad.mit.edu GRCh37 1 45341323 45341323 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000360403.2:c.1020C>G p.Val340= p.V340= ENST00000360403 NM_020365.4 340 gtC/gtG 0 Silent G 41 EIF2B3 SNP 1 G C 45113910 45113910 Broad POMGNT1 55624 broad.mit.edu GRCh37 1 46659015 46659015 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000371992.1:c.1072C>G p.His358Asp p.H358D ENST00000371992 NM_001243766.1 358 Cat/Gat 0 Missense_Mutation G 46 POMGNT1 SNP 1 G C 46431602 46431602 Broad USP24 23358 broad.mit.edu GRCh37 1 55591073 55591073 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000294383.6:c.3880T>A p.Ser1294Thr p.S1294T ENST00000294383 NM_015306.2 1294 Tcc/Acc 0 Missense_Mutation A 12 USP24 SNP 1 A T 55363661 55363661 Broad SF3B4 10262 broad.mit.edu GRCh37 1 149897731 149897731 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000271628.8:c.910C>T p.Pro304Ser p.P304S ENST00000271628 NM_005850.4 304 Cca/Tca 0 Missense_Mutation G 41 SF3B4 SNP 1 G A 148164355 148164355 Broad ARHGEF11 9826 broad.mit.edu GRCh37 1 156911192 156911192 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000368194.3:c.3486T>A p.Gly1162= p.G1162= ENST00000368194 NM_198236.2 1162 ggT/ggA 0 Silent A 6 ARHGEF11 SNP 1 A T 155177816 155177816 Broad FAM20B 9917 broad.mit.edu GRCh37 1 179013091 179013091 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000263733.4:c.109G>A p.Asp37Asn p.D37N ENST00000263733 NM_014864.3 37 Gac/Aac 0 Missense_Mutation G 41 FAM20B SNP 1 G A 177279714 177279714 Broad KLHDC8A 55220 broad.mit.edu GRCh37 1 205312382 205312382 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000367156.3:c.351C>G p.Ala117= p.A117= ENST00000367156 NM_001271863.1 117 gcC/gcG 0 Silent G 47 KLHDC8A SNP 1 G C 203579005 203579005 Broad USH2A 7399 broad.mit.edu GRCh37 1 216380668 216380668 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000307340.3:c.3263G>A p.Ser1088Asn p.S1088N ENST00000307340 NM_206933.2 1088 aGt/aAt 0 Missense_Mutation C 20 USH2A SNP 1 C T 214447291 214447291 Broad VWA2 340706 broad.mit.edu GRCh37 10 116037774 116037774 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000603594.1:c.668G>T p.Ser223Ile p.S223I ENST00000603594 223 aGc/aTc 0 Missense_Mutation G 34 VWA2 SNP 10 G T 116027764 116027764 Broad MTG1 92170 broad.mit.edu GRCh37 10 135232990 135232990 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000317502.6:c.759G>C p.Val253= p.V253= ENST00000317502 NM_138384.2 253 gtG/gtC 0 Silent G 46 MTG1 SNP 10 G C 135082980 135082980 Broad ART5 116969 broad.mit.edu GRCh37 11 3661421 3661421 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000397068.3:c.238C>T p.Arg80Ter p.R80* ENST00000397068 NM_053017.3 80 Cga/Tga 0 Nonsense_Mutation G 37 ART5 SNP 11 G A 3617997 3617997 Broad ACCSL 390110 broad.mit.edu GRCh37 11 44077627 44077627 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000378832.1:c.1177A>T p.Thr393Ser p.T393S ENST00000378832 NM_001031854.2 393 Acc/Tcc 0 Missense_Mutation A 14 ACCSL SNP 11 A T 44034203 44034203 Broad ATM 472 broad.mit.edu GRCh37 11 108235819 108235819 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000278616.4:c.8861A>G p.Tyr2954Cys p.Y2954C ENST00000278616 NM_000051.3 2954 tAt/tGt 0 Missense_Mutation A 16 ATM SNP 11 A G 107741029 107741029 Broad DIXDC1 85458 broad.mit.edu GRCh37 11 111856023 111856023 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000440460.2:c.983G>A p.Gly328Asp p.G328D ENST00000440460 NM_001037954.3 328 gGt/gAt 0 Missense_Mutation G 44 DIXDC1 SNP 11 G A 111361233 111361233 Broad MCAM 4162 broad.mit.edu GRCh37 11 119182586 119182586 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000264036.4:c.1217G>C p.Arg406Pro p.R406P ENST00000264036 NM_006500.2 406 cGc/cCc 0 Missense_Mutation C 27 MCAM SNP 11 C G 118687796 118687796 Broad CD163L1 283316 broad.mit.edu GRCh37 12 7586046 7586046 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000313599.3:c.369T>C p.Ala123= p.A123= ENST00000313599 123 gcT/gcC 0 Silent A 11 CD163L1 SNP 12 A G 7477313 7477313 Broad PDE3A 5139 broad.mit.edu GRCh37 12 20799874 20799874 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000359062.3:c.2555G>C p.Ser852Thr p.S852T ENST00000359062 NM_001244683.1 852 aGt/aCt 0 Missense_Mutation G 36 PDE3A SNP 12 G C 20691141 20691141 Broad KRT6A 3853 broad.mit.edu GRCh37 12 52881580 52881580 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000330722.6:c.1619G>T p.Ser540Ile p.S540I ENST00000330722 NM_005554.3 540 aGc/aTc 0 Missense_Mutation C 28 KRT6A SNP 12 C A 51167847 51167847 Broad MTUS2 23281 broad.mit.edu GRCh37 13 29599077 29599077 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000431530.3:c.272T>C p.Leu91Pro p.L91P ENST00000431530 NM_001033602.2 91 cTt/cCt 0 Missense_Mutation T 56 MTUS2 SNP 13 T C 28497077 28497077 Broad MAB21L1 4081 broad.mit.edu GRCh37 13 36049751 36049751 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000379919.4:c.525A>C p.Lys175Asn p.K175N ENST00000379919 NM_005584.4 175 aaA/aaC 0 Missense_Mutation T 52 MAB21L1 SNP 13 T G 34947751 34947751 Broad NDFIP2 54602 broad.mit.edu GRCh37 13 80095082 80095082 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000218652.7:c.459T>A p.Ser153Arg p.S153R ENST00000218652 NM_001161407.1 153 agT/agA 0 Missense_Mutation T 57 NDFIP2 SNP 13 T A 78993083 78993083 Broad OR6S1 341799 broad.mit.edu GRCh37 14 21109650 21109650 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000320704.3:c.201C>G p.Asn67Lys p.N67K ENST00000320704 NM_001001968.1 67 aaC/aaG 0 Missense_Mutation G 44 OR6S1 SNP 14 G C 20179490 20179490 Broad MDGA2 161357 broad.mit.edu GRCh37 14 47389224 47389224 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000426342.1:c.1335C>A p.Gly445= p.G445= ENST00000426342 NM_182830.4 445 ggC/ggA 0 Silent G 46 MDGA2 SNP 14 G T 46458974 46458974 Broad ZC3H14 79882 broad.mit.edu GRCh37 14 89039323 89039323 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000251038.5:c.833G>C p.Arg278Thr p.R278T ENST00000251038 NM_024824.4 278 aGa/aCa 0 Missense_Mutation G 33 ZC3H14 SNP 14 G C 88109076 88109076 Broad HCN4 10021 broad.mit.edu GRCh37 15 73635779 73635779 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000261917.3:c.1156T>A p.Leu386Ile p.L386I ENST00000261917 NM_005477.2 386 Tta/Ata 0 Missense_Mutation A 3 HCN4 SNP 15 A T 71422832 71422832 Broad UBE2Q2 92912 broad.mit.edu GRCh37 15 76165768 76165768 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000267938.4:c.448-1G>T p.X150_splice ENST00000267938 NM_173469.2 0 Splice_Site_SNP G 35 UBE2Q2 SNP 15 G T 73952823 73952823 Broad ITFG1 81533 broad.mit.edu GRCh37 16 47494797 47494797 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000320640.6:c.160G>T p.Gly54Trp p.G54W ENST00000320640 NM_030790.3 54 Ggg/Tgg 0 Missense_Mutation C 23 ITFG1 SNP 16 C A 46052298 46052298 Broad TP53 7157 broad.mit.edu GRCh37 17 7578496 7578496 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.434T>A p.Leu145Gln p.L145Q ENST00000269305 NM_001126112.2 145 cTg/cAg 0 Missense_Mutation A 7 TP53 SNP 17 A T 7519221 7519221 Broad PER1 5187 broad.mit.edu GRCh37 17 8051342 8051342 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000317276.4:c.1207C>G p.Pro403Ala p.P403A ENST00000317276 NM_002616.2 403 Ccc/Gcc 0 Missense_Mutation G 44 PER1 SNP 17 G C 7992067 7992067 Broad ACLY 47 broad.mit.edu GRCh37 17 40025030 40025030 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000352035.2:c.3143C>G p.Ala1048Gly p.A1048G ENST00000352035 NM_001096.2 1048 gCt/gGt 0 Missense_Mutation G 34 ACLY SNP 17 G C 37278556 37278556 Broad NOTUM 147111 broad.mit.edu GRCh37 17 79910945 79910945 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000409678.3:c.1383G>T p.Met461Ile p.M461I ENST00000409678 NM_178493.5 461 atG/atT 0 Missense_Mutation C 29 NOTUM SNP 17 C A 77504235 77504235 Broad ANKRD29 147463 broad.mit.edu GRCh37 18 21218841 21218841 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000592179.1:c.302T>G p.Phe101Cys p.F101C ENST00000592179 NM_173505.2 101 tTt/tGt 0 Missense_Mutation A 1 ANKRD29 SNP 18 A C 19472839 19472839 Broad ZNF57 126295 broad.mit.edu GRCh37 19 2917849 2917849 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000306908.5:c.1230T>G p.His410Gln p.H410Q ENST00000306908 NM_173480.2 410 caT/caG 0 Missense_Mutation T 52 ZNF57 SNP 19 T G 2868849 2868849 Broad OR7D4 125958 broad.mit.edu GRCh37 19 9324997 9324997 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000308682.2:c.517G>A p.Glu173Lys p.E173K ENST00000308682 NM_001005191.2 173 Gag/Aag 0 Missense_Mutation C 29 OR7D4 SNP 19 C T 9185997 9185997 Broad SMARCA4 6597 broad.mit.edu GRCh37 19 11105512 11105512 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000344626.4:c.1428C>A p.Leu476= p.L476= ENST00000344626 NM_003072.3 476 ctC/ctA 0 Silent C 29 SMARCA4 SNP 19 C A 10966512 10966512 Broad KMT2B 9757 broad.mit.edu GRCh37 19 36212348 36212348 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000222270.7:c.2099A>G p.Asn700Ser p.N700S ENST00000222270 NM_014727.1 700 aAc/aGc 0 Missense_Mutation A 2 MLL4 SNP 19 A G 40904188 40904188 Broad ATP1A3 478 broad.mit.edu GRCh37 19 42472996 42472996 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000545399.1:c.2799G>T p.Gln933His p.Q933H ENST00000545399 NM_001256214.1 933 caG/caT 0 Missense_Mutation C 20 ATP1A3 SNP 19 C A 47164836 47164836 Broad CACNG6 59285 broad.mit.edu GRCh37 19 54515404 54515404 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000252729.2:c.744G>A p.Trp248Ter p.W248* ENST00000252729 NM_145814.1 248 tgG/tgA 0 Nonsense_Mutation G 43 CACNG6 SNP 19 G A 59207216 59207216 Broad HEATR5B 54497 broad.mit.edu GRCh37 2 37255209 37255209 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000233099.5:c.3710C>A p.Ser1237Ter p.S1237* ENST00000233099 NM_019024.1 1237 tCa/tAa 0 Nonsense_Mutation G 45 HEATR5B SNP 2 G T 37108713 37108713 Broad FAM161A 84140 broad.mit.edu GRCh37 2 62067260 62067260 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000404929.1:c.879C>G p.Leu293= p.L293= ENST00000404929 NM_001201543.1 293 ctC/ctG 0 Silent G 41 FAM161A SNP 2 G C 61920764 61920764 Broad FER1L5 90342 broad.mit.edu GRCh37 2 97363280 97363280 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000397978.2:n.412C>T *138* ENST00000397978 0 Silent C 17 FER1L5 SNP 2 C T 96727007 96727007 Broad CCNT2 905 broad.mit.edu GRCh37 2 135711863 135711863 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000264157.5:c.1838G>A p.Ser613Asn p.S613N ENST00000264157 NM_058241.2 613 aGc/aAc 0 Missense_Mutation G 34 CCNT2 SNP 2 G A 135428333 135428333 Broad DPP4 1803 broad.mit.edu GRCh37 2 162881421 162881421 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000360534.3:c.916G>A p.Ala306Thr p.A306T ENST00000360534 NM_001935.3 306 Gca/Aca 0 Missense_Mutation C 26 DPP4 SNP 2 C T 162589667 162589667 Broad ABCA12 26154 broad.mit.edu GRCh37 2 215843638 215843638 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000272895.7:c.4867T>C p.Phe1623Leu p.F1623L ENST00000272895 NM_173076.2 1623 Ttc/Ctc 0 Missense_Mutation A 4 ABCA12 SNP 2 A G 215551883 215551883 Broad MARCH4 57574 broad.mit.edu GRCh37 2 217142538 217142538 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000273067.4:c.722C>G p.Ala241Gly p.A241G ENST00000273067 NM_020814.2 241 gCc/gGc 0 Missense_Mutation G 42 MARCH4 SNP 2 G C 216850783 216850783 Broad FAM134A 79137 broad.mit.edu GRCh37 2 220044835 220044835 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000430297.2:c.423G>C p.Glu141Asp p.E141D ENST00000430297 NM_024293.4 141 gaG/gaC 0 Missense_Mutation G 35 FAM134A SNP 2 G C 219753079 219753079 Broad PCSK2 5126 broad.mit.edu GRCh37 20 17446023 17446023 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000262545.2:c.1255C>T p.Arg419Trp p.R419W ENST00000262545 NM_002594.3 419 Cgg/Tgg 0 Missense_Mutation C 19 PCSK2 SNP 20 C T 17394023 17394023 Broad STAU1 6780 broad.mit.edu GRCh37 20 47741010 47741010 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000371856.2:c.724G>A p.Ala242Thr p.A242T ENST00000371856 NM_017453.2 242 Gcc/Acc 0 Missense_Mutation C 27 STAU1 SNP 20 C T 47174417 47174417 Broad GCNT4 51301 broad.mit.edu GRCh37 5 74324666 74324666 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000322348.4:c.1197G>T p.Arg399Ser p.R399S ENST00000322348 NM_016591.2 399 agG/agT 0 Missense_Mutation C 18 GCNT4 SNP 5 C A 74360422 74360422 Broad FBXO38 81545 broad.mit.edu GRCh37 5 147795556 147795556 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000394370.3:c.1330T>A p.Ser444Thr p.S444T ENST00000394370 444 Tct/Act 0 Missense_Mutation T 54 FBXO38 SNP 5 T A 147775749 147775749 Broad RUFY1 80230 broad.mit.edu GRCh37 5 179012844 179012844 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000319449.4:c.1004C>G p.Thr335Ser p.T335S ENST00000319449 NM_025158.4 335 aCt/aGt 0 Missense_Mutation C 20 RUFY1 SNP 5 C G 178945450 178945450 Broad HIST1H1A 3024 broad.mit.edu GRCh37 6 26017677 26017677 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000244573.3:c.284C>G p.Thr95Arg p.T95R ENST00000244573 NM_005325.3 95 aCg/aGg 0 Missense_Mutation G 40 HIST1H1A SNP 6 G C 26125656 26125656 Broad ZNF184 7738 broad.mit.edu GRCh37 6 27420013 27420013 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000211936.6:c.1325G>C p.Gly442Ala p.G442A ENST00000211936 NM_007149.2 442 gGg/gCg 0 Missense_Mutation C 22 ZNF184 SNP 6 C G 27527992 27527992 Broad GNL1 2794 broad.mit.edu GRCh37 6 30521236 30521236 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000376621.3:c.699T>C p.Ala233= p.A233= ENST00000376621 NM_005275.3 233 gcT/gcC 0 Silent A 11 GNL1 SNP 6 A G 30629215 30629215 Broad SYTL3 94120 broad.mit.edu GRCh37 6 159086499 159086499 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000297239.9:c.183G>C p.Lys61Asn p.K61N ENST00000297239 61 aaG/aaC 0 Missense_Mutation G 36 SYTL3 SNP 6 G C 159006487 159006487 Broad DAGLB 221955 broad.mit.edu GRCh37 7 6476149 6476149 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000297056.6:c.263C>T p.Pro88Leu p.P88L ENST00000297056 NM_139179.3 88 cCt/cTt 0 Missense_Mutation G 35 DAGLB SNP 7 G A 6442674 6442674 Broad EGFR 1956 broad.mit.edu GRCh37 7 55273168 55273168 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000275493.2:c.3491A>G p.Gln1164Arg p.Q1164R ENST00000275493 NM_005228.3 1164 cAa/cGa 0 Missense_Mutation A 5 EGFR SNP 7 A G 55240662 55240662 Broad CPA4 51200 broad.mit.edu GRCh37 7 129950719 129950719 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000222482.4:c.886C>A p.Gln296Lys p.Q296K ENST00000222482 NM_016352.3 296 Caa/Aaa 0 Missense_Mutation C 21 CPA4 SNP 7 C A 129737955 129737955 Broad AKR1B15 441282 broad.mit.edu GRCh37 7 134260193 134260193 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000457545.2:c.535G>A p.Glu179Lys p.E179K ENST00000457545 NM_001080538.2 179 Gag/Aag 0 Missense_Mutation G 37 AKR1B10L SNP 7 G A 133910733 133910733 Broad ZNF746 155061 broad.mit.edu GRCh37 7 149191528 149191528 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000458143.2:c.91C>T p.Arg31Cys p.R31C ENST00000458143 NM_001163474.1 31 Cgc/Tgc 0 Missense_Mutation G 37 ZNF746 SNP 7 G A 148822461 148822461 Broad GPR124 25960 broad.mit.edu GRCh37 8 37690606 37690606 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000412232.2:c.1176G>C p.Gly392= p.G392= ENST00000412232 NM_032777.9 392 ggG/ggC 0 Silent G 43 GPR124 SNP 8 G C 37809764 37809764 Broad HRSP12 10247 broad.mit.edu GRCh37 8 99116773 99116773 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000254878.3:c.296-1G>C p.X99_splice ENST00000254878 NM_005836.2 0 Splice_Site_SNP C 32 HRSP12 SNP 8 C G 99185949 99185949 Broad POP1 10940 broad.mit.edu GRCh37 8 99169860 99169860 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000401707.2:c.2436G>A p.Leu812= p.L812= ENST00000401707 NM_001145860.1 812 ctG/ctA 0 Silent G 45 POP1 SNP 8 G A 99239036 99239036 Broad CTD-3064M3.7 broad.mit.edu GRCh37 8 142445324 142445324 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000606664.1:n.680C>T *227* ENST00000606664 0 Missense_Mutation C 17 FLJ43860 SNP 8 C T 142514506 142514506 Broad AK3 50808 broad.mit.edu GRCh37 9 4718447 4718447 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000381809.3:c.535C>G p.Gln179Glu p.Q179E ENST00000381809 NM_016282.3 179 Caa/Gaa 0 Missense_Mutation G 47 AK3 SNP 9 G C 4708447 4708447 Broad PPP1R3F 89801 broad.mit.edu GRCh37 X 49142296 49142296 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000055335.6:c.1144G>C p.Val382Leu p.V382L ENST00000055335 NM_033215.4 382 Gtt/Ctt 0 Missense_Mutation G 44 PPP1R3F SNP 23 G C 49029240 49029240 Broad CCNB3 85417 broad.mit.edu GRCh37 X 50037981 50037981 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000376042.1:c.323G>A p.Arg108Gln p.R108Q ENST00000376042 108 cGg/cAg 0 Missense_Mutation G 39 CCNB3 SNP 23 G A 50054721 50054721 Broad MORC4 79710 broad.mit.edu GRCh37 X 106205288 106205288 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000355610.4:c.1210A>T p.Thr404Ser p.T404S ENST00000355610 NM_001085354.2 404 Aca/Tca 0 Missense_Mutation T 60 MORC4 SNP 23 T A 106091944 106091944 Broad MID2 11043 broad.mit.edu GRCh37 X 107084208 107084208 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000262843.6:c.313C>T p.Arg105Cys p.R105C ENST00000262843 NM_052817.2 105 Cgc/Tgc 0 Missense_Mutation C 31 MID2 SNP 23 C T 106970864 106970864 Broad COL4A6 1288 broad.mit.edu GRCh37 X 107554056 107554056 + splice_region_variant,synonymous_variant Splice_Region SNP T T A novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown x x x ENST00000372216.4:c.69A>T p.Gly23= p.G23= ENST00000372216 NM_001847.2 23 ggA/ggT 0 Silent T 54 COL4A6 SNP 23 T A 107440712 107440712 Broad GLDC 2731 broad.mit.edu GRCh37 9 6554727 6554736 + frameshift_variant Frame_Shift_Del DEL GAAGATTTAG GAAGATTTAG - novel Unknown TCGA-13-1501-01 TCGA-13-1501-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000321612.6:c.2248_2257del p.Leu750ThrfsTer20 p.L750Tfs*20 ENST00000321612 NM_000170.2 750 CTAAATCTTCac/ac 0 Frame_Shift_Del GAAGATTTAG 45 GLDC DEL 9 - GAAGATTTAG 6544736 6544727 Broad SPEN 23013 broad.mit.edu GRCh37 1 16260337 16260337 + synonymous_variant Silent SNP G G C novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000375759.3:c.7602G>C p.Leu2534= p.L2534= ENST00000375759 NM_015001.2 2534 ctG/ctC 0 Silent G 45 SPEN SNP 1 G C 16132924 16132924 Broad CLCNKA 1187 broad.mit.edu GRCh37 1 16359722 16359722 + synonymous_variant Silent SNP A A C novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown x x x ENST00000331433.4:c.1987A>C p.Arg663= p.R663= ENST00000331433 663 Aga/Cga 0 Silent A 7 CLCNKA SNP 1 A C 16232309 16232309 Broad CACNA1C 775 broad.mit.edu GRCh37 12 2788717 2788717 + synonymous_variant Silent SNP G G A novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000347598.4:c.5343G>A p.Ala1781= p.A1781= ENST00000347598 NM_199460.2 1781 gcG/gcA 0 Silent G 39 CACNA1C SNP 12 G A 2658978 2658978 Broad ARF6 382 broad.mit.edu GRCh37 14 50360975 50360975 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown x x x ENST00000298316.5:c.521A>G p.Lys174Arg p.K174R ENST00000298316 NM_001663.3 174 aAa/aGa 0 Missense_Mutation A 1 ARF6 SNP 14 A G 49430725 49430725 Broad SPTB 6710 broad.mit.edu GRCh37 14 65260213 65260213 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown x x x ENST00000389722.3:c.2168C>T p.Ala723Val p.A723V ENST00000389722 NM_001024858.2 723 gCa/gTa 0 Missense_Mutation G 46 SPTB SNP 14 G A 64329966 64329966 Broad BAHCC1 57597 broad.mit.edu GRCh37 17 79430702 79430702 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown x x x ENST00000307745.7:c.7686G>T p.Gln2562His p.Q2562H ENST00000307745 2562 caG/caT 0 Missense_Mutation G 35 BAHCC1 SNP 17 G T 77045297 77045297 Broad MUC16 94025 broad.mit.edu GRCh37 19 9066447 9066447 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000397910.4:c.20999C>G p.Ser7000Cys p.S7000C ENST00000397910 NM_024690.2 7000 tCt/tGt 0 Missense_Mutation G 33 MUC16 SNP 19 G C 8927447 8927447 Broad COL5A3 50509 broad.mit.edu GRCh37 19 10091504 10091504 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264828.3:c.2537C>T p.Ala846Val p.A846V ENST00000264828 NM_015719.3 846 gCc/gTc 0 Missense_Mutation G 42 COL5A3 SNP 19 G A 9952504 9952504 Broad ZNF507 22847 broad.mit.edu GRCh37 19 32844300 32844300 + synonymous_variant Silent SNP C C T novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown x x x ENST00000311921.4:c.564C>T p.Ser188= p.S188= ENST00000311921 NM_014910.4 188 tcC/tcT 0 Silent C 21 ZNF507 SNP 19 C T 37536140 37536140 Broad MEGF8 1954 broad.mit.edu GRCh37 19 42854513 42854513 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown x x x ENST00000334370.4:c.2512C>T p.Arg838Trp p.R838W ENST00000334370 NM_001410.2 838 Cgg/Tgg 0 Missense_Mutation C 31 MEGF8 SNP 19 C T 47546353 47546353 Broad PPP6R1 22870 broad.mit.edu GRCh37 19 55748135 55748135 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown x x x ENST00000412770.2:c.1864G>A p.Asp622Asn p.D622N ENST00000412770 NM_014931.3 622 Gat/Aat 0 Missense_Mutation C 29 PPP6R1 SNP 19 C T 60439947 60439947 Broad FZD7 8324 broad.mit.edu GRCh37 2 202900538 202900538 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown x x x ENST00000286201.1:c.1168G>A p.Ala390Thr p.A390T ENST00000286201 NM_003507.1 390 Gcc/Acc 0 Missense_Mutation G 38 FZD7 SNP 2 G A 202608783 202608783 Broad NOP56 10528 broad.mit.edu GRCh37 20 2636148 2636148 + synonymous_variant Silent SNP G G A novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown x x x ENST00000329276.5:c.747G>A p.Arg249= p.R249= ENST00000329276 NM_006392.3 249 cgG/cgA 0 Silent G 44 NOP56 SNP 20 G A 2584148 2584148 Broad XIRP1 165904 broad.mit.edu GRCh37 3 39229118 39229118 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000340369.3:c.1819G>A p.Ala607Thr p.A607T ENST00000340369 NM_194293.2 607 Gcc/Acc 0 Missense_Mutation C 26 XIRP1 SNP 3 C T 39204122 39204122 Broad DUSP7 1849 broad.mit.edu GRCh37 3 52084904 52084904 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000495880.1:c.1187C>T p.Ser396Leu p.S396L ENST00000495880 396 tCg/tTg 0 Missense_Mutation G 37 DUSP7 SNP 3 G A 52059944 52059944 Broad HADH 3033 broad.mit.edu GRCh37 4 108955465 108955465 + synonymous_variant Silent SNP G G A novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown x x x ENST00000603302.1:c.948G>A p.Glu316= p.E316= ENST00000603302 316 gaG/gaA 0 Silent G 33 HADH SNP 4 G A 109174914 109174914 Broad SFRP2 6423 broad.mit.edu GRCh37 4 154702787 154702787 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000274063.4:c.704C>T p.Ser235Leu p.S235L ENST00000274063 NM_003013.2 235 tCg/tTg 0 Missense_Mutation G 37 SFRP2 SNP 4 G A 154922237 154922237 Broad TMEM200A 114801 broad.mit.edu GRCh37 6 130762600 130762600 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown x x x ENST00000392429.1:c.1033C>G p.Leu345Val p.L345V ENST00000392429 NM_052913.2 345 Cta/Gta 0 Missense_Mutation C 28 TMEM200A SNP 6 C G 130804293 130804293 Broad PCLO 27445 broad.mit.edu GRCh37 7 82585727 82585727 + synonymous_variant Silent SNP T T C novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown x x x ENST00000333891.9:c.4542A>G p.Glu1514= p.E1514= ENST00000333891 NM_033026.5 1514 gaA/gaG 0 Silent T 56 PCLO SNP 7 T C 82423663 82423663 Broad RBM28 55131 broad.mit.edu GRCh37 7 127970914 127970914 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown x x x ENST00000223073.2:c.1087T>G p.Tyr363Asp p.Y363D ENST00000223073 NM_018077.2 363 Tat/Gat 0 Missense_Mutation A 16 RBM28 SNP 7 A C 127758150 127758150 Broad JPH1 56704 broad.mit.edu GRCh37 8 75156894 75156894 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown x x x ENST00000342232.4:c.1775C>T p.Ser592Phe p.S592F ENST00000342232 NM_020647.2 592 tCc/tTc 0 Missense_Mutation G 41 JPH1 SNP 8 G A 75319448 75319448 Broad COLEC10 10584 broad.mit.edu GRCh37 8 120118083 120118083 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown x x x ENST00000332843.2:c.487G>A p.Val163Met p.V163M ENST00000332843 NM_006438.3 163 Gtg/Atg 0 Missense_Mutation G 40 COLEC10 SNP 8 G A 120187264 120187264 Broad GTF3C4 9329 broad.mit.edu GRCh37 9 135554145 135554145 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown x x x ENST00000372146.4:c.1139A>G p.Tyr380Cys p.Y380C ENST00000372146 NM_012204.2 380 tAt/tGt 0 Missense_Mutation A 16 GTF3C4 SNP 9 A G 134543966 134543966 Broad TP53 7157 broad.mit.edu GRCh37 17 7579374 7579374 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.313G>C p.Gly105Arg p.G105R ENST00000269305 NM_001126112.2 105 Ggc/Cgc 0 Missense_Mutation C 22 TP53 SNP 17 C G 7520099 7520099 Broad KIF26B 55083 broad.mit.edu GRCh37 1 245765974 245765989 + frameshift_variant Frame_Shift_Del DEL CTTGTACGATCCCCTG CTTGTACGATCCCCTG - novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000407071.2:c.1446_1461del p.Tyr484ValfsTer42 p.Y484Vfs*42 ENST00000407071 NM_018012.3 482 acCTTGTACGATCCCCTG/ac 0 Frame_Shift_Del CTTGTACGATCCCCTG 24 KIF26B DEL 1 - CTTGTACGATCCCCTG 243832612 243832597 Broad MYOF 26509 broad.mit.edu GRCh37 10 95134674 95134675 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000359263.4:c.2146dup p.Thr716AsnfsTer20 p.T716Nfs*20 ENST00000359263 NM_013451.3 716 aca/aAca 0 Frame_Shift_Ins - 48 MYOF INS 10 T - 95124665 95124664 Broad CDK12 51755 broad.mit.edu GRCh37 17 37671993 37671994 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-20-0987-01 TCGA-20-0987-10 G - - - Unknown Valid Somatic Phase_I Capture Illumina GAIIx ENST00000447079.4:c.2782dupG p.Glu928GlyfsTer27 p.E928Gfs*27 ENST00000447079 NM_015083.1 926 -/G 0 Frame_Shift_Ins - 63 CDK12 INS 17 G - 34925520 34925519 Broad ABCD2 225 hgsc.bcm.edu GRCh37 12 39979968 39979968 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000308666.3:c.1778T>A p.Val593Asp p.V593D ENST00000308666 NM_005164.3 593 gTt/gAt 0 Missense_Mutation A 2 ABCD2 SNP 12 A T 38266235 38266235 Baylor ACTR1B 10120 hgsc.bcm.edu GRCh37 2 98274480 98274480 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000289228.5:c.851A>C p.His284Pro p.H284P ENST00000289228 NM_005735.3 284 cAc/cCc 0 Missense_Mutation T 59 ACTR1B SNP 2 T G 97640912 97640912 Baylor ASGR2 433 hgsc.bcm.edu GRCh37 17 7010404 7010404 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380952.2:c.578A>G p.His193Arg p.H193R ENST00000380952 NM_080912.3 193 cAc/cGc 0 Missense_Mutation T 59 ASGR2 SNP 17 T C 6951128 6951128 Baylor BBS10 79738 hgsc.bcm.edu GRCh37 12 76740392 76740392 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393262.3:c.1373C>G p.Pro458Arg p.P458R ENST00000393262 NM_024685.3 458 cCa/cGa 0 Missense_Mutation G 47 BBS10 SNP 12 G C 75264523 75264523 Baylor BCORL1 63035 hgsc.bcm.edu GRCh37 X 129149485 129149485 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000540052.1:c.2737A>G p.Lys913Glu p.K913E ENST00000540052 NM_021946.4 913 Aag/Gag 0 Missense_Mutation A 5 BCORL1 SNP 23 A G 128977166 128977166 Baylor KANSL2 54934 hgsc.bcm.edu GRCh37 12 49072884 49072884 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000420613.2:c.480G>C p.Gln160His p.Q160H ENST00000420613 NM_017822.3 160 caG/caC 0 Missense_Mutation C 32 C12orf41 SNP 12 C G 47359151 47359151 Baylor C16orf89 146556 hgsc.bcm.edu GRCh37 16 5115850 5115850 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000315997.5:c.60C>T p.Ser20= p.S20= ENST00000315997 NM_152459.4 20 tcC/tcT 0 Silent G 35 C16orf89 SNP 16 G A 5055851 5055851 Baylor C17orf49 124944 hgsc.bcm.edu GRCh37 17 6919981 6919981 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000546495.1:c.386C>A p.Pro129His p.P129H ENST00000546495 129 cCc/cAc 0 Missense_Mutation C 22 C17orf49 SNP 17 C A 6860705 6860705 Baylor SMDT1 91689 hgsc.bcm.edu GRCh37 22 42475927 42475927 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000331479.3:c.155G>A p.Arg52His p.R52H ENST00000331479 NM_033318.4 52 cGc/cAc 0 Missense_Mutation G 38 C22orf32 SNP 22 G A 40805873 40805873 Baylor C8orf4 56892 hgsc.bcm.edu GRCh37 8 40011118 40011118 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000315792.3:c.67C>T p.His23Tyr p.H23Y ENST00000315792 NM_020130.4 23 Cat/Tat 0 Missense_Mutation C 21 C8orf4 SNP 8 C T 40130275 40130275 Baylor CACNA1C 775 hgsc.bcm.edu GRCh37 12 2760846 2760846 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000347598.4:c.4130G>T p.Arg1377Leu p.R1377L ENST00000347598 NM_199460.2 1377 cGc/cTc 0 Missense_Mutation G 38 CACNA1C SNP 12 G T 2631107 2631107 Baylor CADPS2 93664 hgsc.bcm.edu GRCh37 7 122269374 122269374 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000449022.2:c.795C>T p.Asn265= p.N265= ENST00000449022 NM_017954.10 265 aaC/aaT 0 Silent G 40 CADPS2 SNP 7 G A 122056610 122056610 Baylor CASP7 840 hgsc.bcm.edu GRCh37 10 115489258 115489258 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369321.2:c.970G>T p.Val324Leu p.V324L ENST00000369321 NM_033338.5 324 Gtg/Ttg 0 Missense_Mutation G 48 CASP7 SNP 10 G T 115479248 115479248 Baylor CCDC64 92558 hgsc.bcm.edu GRCh37 12 120436405 120436405 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397558.2:c.510G>A p.Leu170= p.L170= ENST00000397558 NM_207311.2 170 ctG/ctA 0 Silent G 47 CCDC64 SNP 12 G A 118920788 118920788 Baylor CCNG2 901 hgsc.bcm.edu GRCh37 4 78085511 78085511 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000316355.5:c.790G>C p.Asp264His p.D264H ENST00000316355 NM_004354.2 264 Gat/Cat 0 Missense_Mutation G 33 CCNG2 SNP 4 G C 78304535 78304535 Baylor CDH17 1015 hgsc.bcm.edu GRCh37 8 95158222 95158222 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000027335.3:c.2101C>A p.Pro701Thr p.P701T ENST00000027335 NM_004063.3 701 Ccc/Acc 0 Missense_Mutation G 41 CDH17 SNP 8 G T 95227398 95227398 Baylor CDH6 1004 hgsc.bcm.edu GRCh37 5 31323415 31323415 + stop_retained_variant Silent SNP A A G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265071.2:c.2373A>G p.Ter791= p.*791= ENST00000265071 NM_004932.3 791 taA/taG 0 Silent A 4 CDH6 SNP 5 A G 31359172 31359172 Baylor CLEC4C 170482 hgsc.bcm.edu GRCh37 12 7894105 7894105 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000542353.1:c.147C>G p.Ser49Arg p.S49R ENST00000542353 NM_130441.2 49 agC/agG 0 Missense_Mutation G 46 CLEC4C SNP 12 G C 7785372 7785372 Baylor CMYA5 202333 hgsc.bcm.edu GRCh37 5 79034473 79034473 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000446378.2:c.9885G>C p.Leu3295= p.L3295= ENST00000446378 NM_153610.3 3295 ctG/ctC 0 Silent G 47 CMYA5 SNP 5 G C 79070229 79070229 Baylor CROT 54677 hgsc.bcm.edu GRCh37 7 87011450 87011450 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000419147.2:c.1207A>G p.Lys403Glu p.K403E ENST00000419147 NM_001143935.1 403 Aaa/Gaa 0 Missense_Mutation A 9 CROT SNP 7 A G 86849386 86849386 Baylor CTDSP1 58190 hgsc.bcm.edu GRCh37 2 219266373 219266373 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000273062.2:c.154G>A p.Glu52Lys p.E52K ENST00000273062 NM_021198.2 52 Gag/Aag 0 Missense_Mutation G 41 CTDSP1 SNP 2 G A 218974617 218974617 Baylor CTSA 5476 hgsc.bcm.edu GRCh37 20 44522691 44522691 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372484.3:c.811G>C p.Asp271His p.D271H ENST00000372484 NM_000308.2 271 Gac/Cac 0 Missense_Mutation G 33 CTSA SNP 20 G C 43956098 43956098 Baylor CYP4A11 1579 hgsc.bcm.edu GRCh37 1 47401277 47401277 + missense_variant Missense_Mutation SNP C C A rs62618709 Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310638.4:c.553G>T p.Val185Phe p.V185F ENST00000310638 NM_000778.3 185 Gtc/Ttc 0 Missense_Mutation C 18 CYP4A11 SNP 1 C A 47173864 47173864 Baylor DNAJC18 202052 hgsc.bcm.edu GRCh37 5 138773237 138773237 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302060.5:c.51C>T p.Asp17= p.D17= ENST00000302060 NM_152686.3 17 gaC/gaT 0 Silent G 40 DNAJC18 SNP 5 G A 138801136 138801136 Baylor EDA 1896 hgsc.bcm.edu GRCh37 X 68836336 68836336 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374552.4:c.184C>A p.Leu62Ile p.L62I ENST00000374552 NM_001399.4 62 Cta/Ata 0 Missense_Mutation C 24 EDA SNP 23 C A 68753061 68753061 Baylor EIF2B2 8892 hgsc.bcm.edu GRCh37 14 75472569 75472569 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000266126.5:c.598G>A p.Gly200Ser p.G200S ENST00000266126 NM_014239.3 200 Ggt/Agt 0 Missense_Mutation G 43 EIF2B2 SNP 14 G A 74542322 74542322 Baylor FAM13A 10144 hgsc.bcm.edu GRCh37 4 89671058 89671058 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264344.5:c.1943G>A p.Arg648Gln p.R648Q ENST00000264344 NM_014883.3 648 cGg/cAg 0 Missense_Mutation C 23 FAM13A SNP 4 C T 89890081 89890081 Baylor FAM78A 286336 hgsc.bcm.edu GRCh37 9 134136565 134136565 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372271.3:c.496G>A p.Val166Ile p.V166I ENST00000372271 NM_033387.3 166 Gtc/Atc 0 Missense_Mutation C 19 FAM78A SNP 9 C T 133126386 133126386 Baylor FAT2 2196 hgsc.bcm.edu GRCh37 5 150886855 150886855 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261800.5:c.12377A>T p.Asn4126Ile p.N4126I ENST00000261800 NM_001447.2 4126 aAt/aTt 0 Missense_Mutation T 52 FAT2 SNP 5 T A 150867048 150867048 Baylor FNDC4 64838 hgsc.bcm.edu GRCh37 2 27717266 27717266 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264703.3:c.201G>T p.Trp67Cys p.W67C ENST00000264703 NM_022823.2 67 tgG/tgT 0 Missense_Mutation C 22 FNDC4 SNP 2 C A 27570770 27570770 Baylor GLB1 2720 hgsc.bcm.edu GRCh37 3 33099620 33099621 + frameshift_variant Frame_Shift_Del DEL CC CC - novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 CC CC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000307363.5:c.693_694del p.Ala232ProfsTer27 p.A232Pfs*27 ENST00000307363 NM_000404.2 231 ggGGcc/ggcc 0 Frame_Shift_Del CC 26 GLB1 DEL 3 CC - 33074625 33074624 Baylor GPR128 84873 hgsc.bcm.edu GRCh37 3 100413700 100413700 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000273352.3:c.2249T>C p.Val750Ala p.V750A ENST00000273352 NM_032787.2 750 gTg/gCg 0 Missense_Mutation T 59 GPR128 SNP 3 T C 101896390 101896390 Baylor GPR174 84636 hgsc.bcm.edu GRCh37 X 78427172 78427172 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000276077.1:c.668G>A p.Gly223Glu p.G223E ENST00000276077 NM_032553.1 223 gGa/gAa 0 Missense_Mutation G 41 GPR174 SNP 23 G A 78313828 78313828 Baylor GRID1 2894 hgsc.bcm.edu GRCh37 10 87484287 87484287 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000327946.7:c.1680A>G p.Pro560= p.P560= ENST00000327946 NM_017551.2 560 ccA/ccG 0 Silent T 51 GRID1 SNP 10 T C 87474267 87474267 Baylor GSPT2 23708 hgsc.bcm.edu GRCh37 X 51488456 51488456 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000340438.4:c.1734A>T p.Gln578His p.Q578H ENST00000340438 NM_018094.4 578 caA/caT 0 Missense_Mutation A 3 GSPT2 SNP 23 A T 51505196 51505196 Baylor HMCN1 83872 hgsc.bcm.edu GRCh37 1 185987407 185987407 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000271588.4:c.5393C>G p.Ser1798Ter p.S1798* ENST00000271588 NM_031935.2 1798 tCa/tGa 0 Nonsense_Mutation C 29 HMCN1 SNP 1 C G 184254030 184254030 Baylor HMCN1 83872 hgsc.bcm.edu GRCh37 1 186007066 186007066 + missense_variant,splice_region_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000271588.4:c.5750A>T p.Glu1917Val p.E1917V ENST00000271588 NM_031935.2 1917 gAa/gTa 0 Missense_Mutation A 9 HMCN1 SNP 1 A T 184273689 184273689 Baylor HYDIN 54768 hgsc.bcm.edu GRCh37 16 70896038 70896038 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393567.2:c.11690G>A p.Gly3897Glu p.G3897E ENST00000393567 NM_001270974.1 3897 gGa/gAa 0 Missense_Mutation C 30 HYDIN SNP 16 C T 69453539 69453539 Baylor IGSF1 3547 hgsc.bcm.edu GRCh37 X 130412650 130412650 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370903.3:c.1841C>A p.Thr614Asn p.T614N ENST00000370903 NM_001555.4 614 aCc/aAc 0 Missense_Mutation G 44 IGSF1 SNP 23 G T 130240331 130240331 Baylor IL1RAPL1 11141 hgsc.bcm.edu GRCh37 X 29972757 29972757 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378993.1:c.1320G>A p.Lys440= p.K440= ENST00000378993 NM_014271.3 440 aaG/aaA 0 Silent G 34 IL1RAPL1 SNP 23 G A 29882678 29882678 Baylor INSC 387755 hgsc.bcm.edu GRCh37 11 15134022 15134022 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000379554.3:c.7C>T p.Arg3Trp p.R3W ENST00000379554 NM_001031853.4 3 Cgg/Tgg 0 Missense_Mutation C 19 INSC SNP 11 C T 15090598 15090598 Baylor IRF3 3661 hgsc.bcm.edu GRCh37 19 50166654 50166654 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000601291.1:c.283G>A p.Asp95Asn p.D95N ENST00000601291 95 Gac/Aac 0 Missense_Mutation C 30 IRF3 SNP 19 C T 54858466 54858466 Baylor KIF2A 3796 hgsc.bcm.edu GRCh37 5 61676951 61676951 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000407818.3:c.2020A>G p.Ile674Val p.I674V ENST00000407818 NM_001098511.2 674 Att/Gtt 0 Missense_Mutation A 16 KIF2A SNP 5 A G 61712708 61712708 Baylor MID1 4281 hgsc.bcm.edu GRCh37 X 10463677 10463677 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000317552.4:c.811G>C p.Glu271Gln p.E271Q ENST00000317552 NM_033289.1 271 Gag/Cag 0 Missense_Mutation C 29 MID1 SNP 23 C G 10423677 10423677 Baylor MUC17 140453 hgsc.bcm.edu GRCh37 7 100679043 100679043 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000306151.4:c.4346C>G p.Thr1449Ser p.T1449S ENST00000306151 NM_001040105.1 1449 aCt/aGt 0 Missense_Mutation C 20 MUC17 SNP 7 C G 100465763 100465763 Baylor MYBPC1 4604 hgsc.bcm.edu GRCh37 12 102071130 102071130 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000452455.2:c.3046G>C p.Asp1016His p.D1016H ENST00000452455 NM_001254718.1 1016 Gat/Cat 0 Missense_Mutation G 41 MYBPC1 SNP 12 G C 100595261 100595261 Baylor NEUROD4 58158 hgsc.bcm.edu GRCh37 12 55420443 55420443 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000242994.3:c.220A>T p.Lys74Ter p.K74* ENST00000242994 NM_021191.2 74 Aaa/Taa 0 Nonsense_Mutation A 9 NEUROD4 SNP 12 A T 53706710 53706710 Baylor NFATC2 4773 hgsc.bcm.edu GRCh37 20 50090672 50090672 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000396009.3:c.1553T>C p.Ile518Thr p.I518T ENST00000396009 NM_001258297.1 518 aTc/aCc 0 Missense_Mutation A 12 NFATC2 SNP 20 A G 49524079 49524079 Baylor ODF1 4956 hgsc.bcm.edu GRCh37 8 103572733 103572733 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000285402.3:c.374T>C p.Ile125Thr p.I125T ENST00000285402 NM_024410.3 125 aTt/aCt 0 Missense_Mutation T 52 ODF1 SNP 8 T C 103641909 103641909 Baylor OLFML2A 169611 hgsc.bcm.edu GRCh37 9 127557314 127557314 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373580.3:c.366G>A p.Met122Ile p.M122I ENST00000373580 NM_182487.2 122 atG/atA 0 Missense_Mutation G 47 OLFML2A SNP 9 G A 126597135 126597135 Baylor OR8B12 219858 hgsc.bcm.edu GRCh37 11 124412940 124412940 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000306842.2:c.611T>C p.Val204Ala p.V204A ENST00000306842 NM_001005195.1 204 gTt/gCt 0 Missense_Mutation A 2 OR8B12 SNP 11 A G 123918150 123918150 Baylor PIK3CG 5294 hgsc.bcm.edu GRCh37 7 106509338 106509338 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359195.3:c.1332G>A p.Lys444= p.K444= ENST00000359195 NM_002649.2 444 aaG/aaA 0 Silent G 35 PIK3CG SNP 7 G A 106296574 106296574 Baylor PIK3R5 23533 hgsc.bcm.edu GRCh37 17 8784976 8784976 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000447110.1:c.2353A>G p.Asn785Asp p.N785D ENST00000447110 NM_001251855.1 785 Aac/Gac 0 Missense_Mutation T 62 PIK3R5 SNP 17 T C 8725701 8725701 Baylor PKP1 5317 hgsc.bcm.edu GRCh37 1 201286873 201286873 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263946.3:c.1020A>T p.Arg340Ser p.R340S ENST00000263946 NM_000299.3 340 agA/agT 0 Missense_Mutation A 9 PKP1 SNP 1 A T 199553496 199553496 Baylor POPDC2 64091 hgsc.bcm.edu GRCh37 3 119367387 119367387 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264231.3:c.729G>A p.Glu243= p.E243= ENST00000264231 NM_022135.2 243 gaG/gaA 0 Silent C 32 POPDC2 SNP 3 C T 120850077 120850077 Baylor PRICKLE2 166336 hgsc.bcm.edu GRCh37 3 64133000 64133000 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295902.6:c.1166A>T p.Asn389Ile p.N389I ENST00000295902 NM_198859.3 389 aAc/aTc 0 Missense_Mutation T 60 PRICKLE2 SNP 3 T A 64108040 64108040 Baylor PRKDC 5591 hgsc.bcm.edu GRCh37 8 48794060 48794060 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000314191.2:c.4981A>C p.Asn1661His p.N1661H ENST00000314191 NM_006904.6 1661 Aat/Cat 0 Missense_Mutation T 61 PRKDC SNP 8 T G 48956613 48956613 Baylor PRSS3 5646 hgsc.bcm.edu GRCh37 9 33799033 33799033 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361005.5:c.770C>T p.Ser257Phe p.S257F ENST00000361005 NM_007343.3 257 tCt/tTt 0 Missense_Mutation C 32 PRSS3 SNP 9 C T 33789033 33789033 Baylor RASGEF1A 221002 hgsc.bcm.edu GRCh37 10 43696279 43696279 + synonymous_variant Silent SNP A A G rs41301585 Unknown TCGA-13-0762-01 TCGA-13-0762-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395809.1:c.517T>C p.Leu173= p.L173= ENST00000395809 173 Ttg/Ctg 0 Silent A 3 RASGEF1A SNP 10 A G 43016285 43016285 Baylor RELN 5649 hgsc.bcm.edu GRCh37 7 103276880 103276880 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000428762.1:c.2105T>C p.Met702Thr p.M702T ENST00000428762 NM_005045.3 702 aTg/aCg 0 Missense_Mutation A 8 RELN SNP 7 A G 103064116 103064116 Baylor RSPO1 284654 hgsc.bcm.edu GRCh37 1 38079872 38079872 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356545.2:c.420G>A p.Met140Ile p.M140I ENST00000356545 NM_001038633.3 140 atG/atA 0 Missense_Mutation C 21 RSPO1 SNP 1 C T 37852459 37852459 Baylor SCN3A 6328 hgsc.bcm.edu GRCh37 2 165948840 165948840 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000283254.7:c.4731C>T p.Leu1577= p.L1577= ENST00000283254 NM_001081676.1 1577 ctC/ctT 0 Silent G 37 SCN3A SNP 2 G A 165657086 165657086 Baylor SEC16A 9919 hgsc.bcm.edu GRCh37 9 139342342 139342342 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000313050.7:c.6410A>G p.Lys2137Arg p.K2137R ENST00000313050 NM_014866.1 2137 aAa/aGa 0 Missense_Mutation T 64 SEC16A SNP 9 T C 138462163 138462163 Baylor SIGLEC11 114132 hgsc.bcm.edu GRCh37 19 50453487 50453487 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000447370.2:c.1837C>T p.Gln613Ter p.Q613* ENST00000447370 NM_052884.2 613 Cag/Tag 0 Nonsense_Mutation G 47 SIGLEC11 SNP 19 G A 55145299 55145299 Baylor SLIT2 9353 hgsc.bcm.edu GRCh37 4 20619085 20619085 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000504154.1:c.4160C>G p.Pro1387Arg p.P1387R ENST00000504154 NM_004787.1 1387 cCc/cGc 0 Missense_Mutation C 22 SLIT2 SNP 4 C G 20228183 20228183 Baylor SMARCB1 6598 hgsc.bcm.edu GRCh37 22 24175823 24175823 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263121.7:c.1051C>T p.Pro351Ser p.P351S ENST00000263121 NM_003073.3 351 Cca/Tca 0 Missense_Mutation C 22 SMARCB1 SNP 22 C T 22505823 22505823 Baylor SPATA13 221178 hgsc.bcm.edu GRCh37 13 24864949 24864949 + missense_variant,NMD_transcript_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000382141.4:c.2641A>C p.Thr881Pro p.T881P ENST00000382141 881 Aca/Cca 0 Missense_Mutation A 6 SPATA13 SNP 13 A C 23762949 23762949 Baylor SUPT6H 6830 hgsc.bcm.edu GRCh37 17 27011891 27011891 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000314616.6:c.2399A>G p.Asn800Ser p.N800S ENST00000314616 NM_003170.3 800 aAt/aGt 0 Missense_Mutation A 4 SUPT6H SNP 17 A G 24036018 24036018 Baylor SYNPO2 171024 hgsc.bcm.edu GRCh37 4 119948253 119948253 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000307142.4:c.729G>A p.Ser243= p.S243= ENST00000307142 NM_133477.2 243 tcG/tcA 0 Silent G 37 SYNPO2 SNP 4 G A 120167701 120167701 Baylor SYT6 148281 hgsc.bcm.edu GRCh37 1 114641783 114641783 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000609117.1:c.1042A>T p.Ile348Phe p.I348F ENST00000609117 348 Atc/Ttc 0 Missense_Mutation T 51 SYT6 SNP 1 T A 114443306 114443306 Baylor TAS2R20 259295 hgsc.bcm.edu GRCh37 12 11150054 11150054 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000538986.1:c.421G>A p.Val141Ile p.V141I ENST00000538986 NM_176889.2 141 Gtt/Att 0 Missense_Mutation C 18 TAS2R20 SNP 12 C T 11041321 11041321 Baylor TET1 80312 hgsc.bcm.edu GRCh37 10 70333677 70333677 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373644.4:c.1582C>G p.Leu528Val p.L528V ENST00000373644 NM_030625.2 528 Ctg/Gtg 0 Missense_Mutation C 20 TET1 SNP 10 C G 70003683 70003683 Baylor THOC6 79228 hgsc.bcm.edu GRCh37 16 3076879 3076879 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000326266.8:c.598G>C p.Ala200Pro p.A200P ENST00000326266 NM_024339.3 200 Gcc/Ccc 0 Missense_Mutation G 34 THOC6 SNP 16 G C 3016880 3016880 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578271 7578271 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Biotage_PCR_WGA . . SOLID ENST00000269305.4:c.578A>G p.His193Arg p.H193R ENST00000269305 NM_001126112.2 193 cAt/cGt 0 Missense_Mutation T 51 TP53 SNP 17 T C 7518996 7518996 Baylor ARPC4-TTLL3 100526693 hgsc.bcm.edu GRCh37 3 9868888 9868888 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397256.1:c.1265T>C p.Phe422Ser p.F422S ENST00000397256 NM_001198793.1 422 tTt/tCt 0 Missense_Mutation T 64 TTLL3 SNP 3 T C 9843888 9843888 Baylor USP46 64854 hgsc.bcm.edu GRCh37 4 53492362 53492362 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000441222.3:c.384del p.Leu128PhefsTer2 p.L128Ffs*2 ENST00000441222 NM_022832.3 128 ttG/tt 0 Frame_Shift_Del C 25 USP46 DEL 4 C - 53187119 53187119 Baylor VIL1 7429 hgsc.bcm.edu GRCh37 2 219297657 219297657 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000248444.5:c.1483C>T p.Arg495Cys p.R495C ENST00000248444 NM_007127.2 495 Cgc/Tgc 0 Missense_Mutation C 19 VIL1 SNP 2 C T 219005901 219005901 Baylor ZMYM4 9202 hgsc.bcm.edu GRCh37 1 35855647 35855647 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000314607.6:c.2535G>C p.Leu845Phe p.L845F ENST00000314607 NM_005095.2 845 ttG/ttC 0 Missense_Mutation G 45 ZMYM4 SNP 1 G C 35628234 35628234 Baylor ZW10 9183 hgsc.bcm.edu GRCh37 11 113610105 113610105 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-13-0762-01 TCGA-13-0762-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000200135.3:c.1584-1G>C p.X528_splice ENST00000200135 NM_004724.3 0 Splice_Site_SNP C 24 ZW10 SNP 11 C G 113115315 113115315 Baylor ACADVL 37 hgsc.bcm.edu GRCh37 17 7127691 7127692 + inframe_insertion In_Frame_Ins INS - - TCC novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000543245.2:c.1654_1655insCCT p.Glu551_Leu552insSer p.E551_L552insS ENST00000543245 NM_001270447.1 551 -/TCC 0 In_Frame_Ins - 36 ACADVL INS 17 - TCC 7068416 7068415 Baylor ACBD4 79777 hgsc.bcm.edu GRCh37 17 43214805 43214808 + frameshift_variant Frame_Shift_Del DEL GGCA GGCA - novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 GGCA GGCA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000431281.1:c.486_489del p.Ala163ProfsTer10 p.A163Pfs*10 ENST00000431281 NM_001135704.1 162 ccGGCA/cc 0 Frame_Shift_Del GGCA 39 ACBD4 DEL 17 GGCA - 40570334 40570331 Baylor ACOT4 122970 hgsc.bcm.edu GRCh37 14 74062308 74062308 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000326303.4:c.1216T>A p.Phe406Ile p.F406I ENST00000326303 NM_152331.3 406 Ttc/Atc 0 Missense_Mutation T 56 ACOT4 SNP 14 T A 73132061 73132061 Baylor ADAM22 53616 hgsc.bcm.edu GRCh37 7 87563789 87563789 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265727.7:c.9G>A p.Ala3= p.A3= ENST00000265727 3 gcG/gcA 0 Silent G 39 ADAM22 SNP 7 G A 87401725 87401725 Baylor ADAMTS5 11096 hgsc.bcm.edu GRCh37 21 28305211 28305211 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000284987.5:c.1842C>T p.Arg614= p.R614= ENST00000284987 NM_007038.3 614 cgC/cgT 0 Silent G 34 ADAMTS5 SNP 21 G A 27227082 27227082 Baylor ADCY4 196883 hgsc.bcm.edu GRCh37 14 24787968 24787968 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310677.4:c.2973C>A p.Pro991= p.P991= ENST00000310677 NM_001198568.1 991 ccC/ccA 0 Silent G 39 ADCY4 SNP 14 G T 23857808 23857808 Baylor ADCY9 115 hgsc.bcm.edu GRCh37 16 4164092 4164092 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000294016.3:c.1352G>C p.Cys451Ser p.C451S ENST00000294016 NM_001116.3 451 tGt/tCt 0 Missense_Mutation C 17 ADCY9 SNP 16 C G 4104093 4104093 Baylor ADD1 118 hgsc.bcm.edu GRCh37 4 2928383 2928383 + intron_variant Intron SNP A A C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264758.7:c.1954+544A>C *652* ENST00000264758 NM_014189.3 0 Silent A 15 ADD1 SNP 4 A C 2898181 2898181 Baylor AHNAK 79026 hgsc.bcm.edu GRCh37 11 62300598 62300598 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378024.4:c.1291G>A p.Val431Met p.V431M ENST00000378024 NM_001620.2 431 Gtg/Atg 0 Missense_Mutation C 17 AHNAK SNP 11 C T 62057174 62057174 Baylor ALOXE3 59344 hgsc.bcm.edu GRCh37 17 8021174 8021174 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000318227.3:c.531C>A p.Phe177Leu p.F177L ENST00000318227 NM_001165960.1 177 ttC/ttA 0 Missense_Mutation G 37 ALOXE3 SNP 17 G T 7961899 7961899 Baylor ANK3 288 hgsc.bcm.edu GRCh37 10 61847934 61847934 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000280772.2:c.3511C>G p.Leu1171Val p.L1171V ENST00000280772 NM_020987.3 1171 Cta/Gta 0 Missense_Mutation G 35 ANK3 SNP 10 G C 61517940 61517940 Baylor AP3S1 1176 hgsc.bcm.edu GRCh37 5 115230798 115230800 + inframe_deletion In_Frame_Del DEL ATT ATT - novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 ATT ATT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000316788.7:c.289_291del p.Leu97del p.L97del ENST00000316788 NM_001284.2 96 acATTa/aca 0 In_Frame_Del ATT 8 AP3S1 DEL 5 ATT - 115258699 115258697 Baylor ATP13A4 84239 hgsc.bcm.edu GRCh37 3 193210932 193210932 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000342695.4:c.399G>T p.Val133= p.V133= ENST00000342695 NM_032279.2 133 gtG/gtT 0 Silent C 25 ATP13A4 SNP 3 C A 194693626 194693626 Baylor AVPR2 554 hgsc.bcm.edu GRCh37 X 153171454 153171463 + frameshift_variant Frame_Shift_Del DEL CCTTCTCGCT CCTTCTCGCT - novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 CCTTCTCGCT CCTTCTCGCT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358927.2:c.501_510del p.Leu168AlafsTer41 p.L168Afs*41 ENST00000358927 165 gCCTTCTCGCTc/gc 0 Frame_Shift_Del CCTTCTCGCT 26 AVPR2 DEL 23 CCTTCTCGCT - 152824657 152824648 Baylor B4GALNT4 338707 hgsc.bcm.edu GRCh37 11 380167 380167 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000329962.6:c.2680T>C p.Ser894Pro p.S894P ENST00000329962 NM_178537.4 894 Tcc/Ccc 0 Missense_Mutation T 54 B4GALNT4 SNP 11 T C 370167 370167 Baylor BMP2K 55589 hgsc.bcm.edu GRCh37 4 79786720 79786720 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000335016.5:c.1077T>C p.Asp359= p.D359= ENST00000335016 NM_198892.1 359 gaT/gaC 0 Silent T 49 BMP2K SNP 4 T C 80005744 80005744 Baylor BOC 91653 hgsc.bcm.edu GRCh37 3 113002293 113002293 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000495514.1:c.2467C>A p.Pro823Thr p.P823T ENST00000495514 823 Ccc/Acc 0 Missense_Mutation C 18 BOC SNP 3 C A 114484983 114484983 Baylor C12orf55 144535 hgsc.bcm.edu GRCh37 12 97150244 97150244 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000524981.4:c.7849G>C p.Glu2617Gln p.E2617Q ENST00000524981 2617 Gaa/Caa 0 Missense_Mutation G 33 C12orf63 SNP 12 G C 95674375 95674375 Baylor C19orf44 84167 hgsc.bcm.edu GRCh37 19 16620461 16620463 + inframe_deletion In_Frame_Del DEL AGC AGC - novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 AGC AGC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000221671.3:c.1302_1304del p.Glu434_His435delinsAsp p.E434_H435delinsD ENST00000221671 NM_032207.2 434 gAGCat/gat 0 In_Frame_Del AGC 11 C19orf44 DEL 19 AGC - 16481463 16481461 Baylor TMEM259 91304 hgsc.bcm.edu GRCh37 19 1011130 1011130 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356663.3:c.1282del p.Ser428AlafsTer15 p.S428Afs*15 ENST00000356663 NM_001033026.1 428 Agc/gc 0 Frame_Shift_Del T 55 C19orf6 DEL 19 T - 962130 962130 Baylor C1orf101 257044 hgsc.bcm.edu GRCh37 1 244747203 244747203 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000366534.4:c.2047C>A p.Pro683Thr p.P683T ENST00000366534 NM_001130957.1 683 Cct/Act 0 Missense_Mutation C 18 C1orf101 SNP 1 C A 242813826 242813826 Baylor C4B 721 hgsc.bcm.edu GRCh37 6 31996571 31996571 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000435363.2:c.3332A>C p.Gln1111Pro p.Q1111P ENST00000435363 NM_001002029.3 1111 cAg/cCg 0 Missense_Mutation A 7 C4A SNP 6 A C 32104549 32104549 Baylor UQCC2 84300 hgsc.bcm.edu GRCh37 6 33668284 33668284 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000607484.1:c.220C>T p.Arg74Cys p.R74C ENST00000607484 NM_032340.3 74 Cgc/Tgc 0 Missense_Mutation G 37 C6orf125 SNP 6 G A 33776262 33776262 Baylor CACNA1F 778 hgsc.bcm.edu GRCh37 X 49084785 49084785 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000376265.2:c.942C>G p.Asp314Glu p.D314E ENST00000376265 NM_005183.2 314 gaC/gaG 0 Missense_Mutation G 48 CACNA1F SNP 23 G C 48971729 48971729 Baylor CAMSAP2 23271 hgsc.bcm.edu GRCh37 1 200818158 200818158 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358823.2:c.2261G>T p.Arg754Met p.R754M ENST00000358823 NM_203459.1 754 aGg/aTg 0 Missense_Mutation G 35 CAMSAP1L1 SNP 1 G T 199084781 199084781 Baylor CCDC39 339829 hgsc.bcm.edu GRCh37 3 180366022 180366022 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000442201.2:c.1293A>T p.Lys431Asn p.K431N ENST00000442201 NM_181426.1 431 aaA/aaT 0 Missense_Mutation T 60 CCDC39 SNP 3 T A 181848716 181848716 Baylor CCDC57 284001 hgsc.bcm.edu GRCh37 17 80151998 80151998 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000392343.3:c.636A>C p.Lys212Asn p.K212N ENST00000392343 212 aaA/aaC 0 Missense_Mutation T 56 CCDC57 SNP 17 T G 77745287 77745287 Baylor CCDC87 55231 hgsc.bcm.edu GRCh37 11 66359437 66359438 + frameshift_variant Frame_Shift_Del DEL CC CC - novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 CC CC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000333861.3:c.1049_1050del p.Gly350AlafsTer5 p.G350Afs*5 ENST00000333861 NM_018219.2 350 gGG/g 0 Frame_Shift_Del CC 26 CCDC87 DEL 11 CC - 66116014 66116013 Baylor CDK1 983 hgsc.bcm.edu GRCh37 10 62539961 62539961 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395284.3:c.37+1G>A p.X13_splice ENST00000395284 NM_001786.4 0 Splice_Site_SNP G 44 CDK1 SNP 10 G A 62209967 62209967 Baylor ARHGAP31 57514 hgsc.bcm.edu GRCh37 3 119133583 119133583 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264245.4:c.2807G>C p.Gly936Ala p.G936A ENST00000264245 NM_020754.2 936 gGt/gCt 0 Missense_Mutation G 44 ARHGAP31 SNP 3 G C 120616273 120616273 Baylor CHD4 1108 hgsc.bcm.edu GRCh37 12 6705263 6705263 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357008.2:c.1933C>G p.Arg645Gly p.R645G ENST00000357008 NM_001273.2 645 Cgg/Ggg 0 Missense_Mutation G 38 CHD4 SNP 12 G C 6575524 6575524 Baylor CHUK 1147 hgsc.bcm.edu GRCh37 10 101978563 101978563 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000370397.7:c.709A>C p.Lys237Gln p.K237Q ENST00000370397 NM_001278.3 237 Aag/Cag 0 Missense_Mutation T 62 CHUK SNP 10 T G 101968553 101968553 Baylor CLEC16A 23274 hgsc.bcm.edu GRCh37 16 11065059 11065059 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000409790.1:c.570A>G p.Val190= p.V190= ENST00000409790 NM_015226.2 190 gtA/gtG 0 Silent A 13 CLEC16A SNP 16 A G 10972560 10972560 Baylor COBL 23242 hgsc.bcm.edu GRCh37 7 51095861 51095861 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265136.7:c.2932C>A p.Leu978Met p.L978M ENST00000265136 NM_015198.3 978 Ctg/Atg 0 Missense_Mutation G 36 COBL SNP 7 G T 51063355 51063355 Baylor COL6A6 131873 hgsc.bcm.edu GRCh37 3 130340682 130340690 + inframe_deletion In_Frame_Del DEL AGGAGAGGC AGGAGAGGC - novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 AGGAGAGGC AGGAGAGGC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358511.6:c.4836_4844del p.Glu1613_Gly1615del p.E1613_G1615del ENST00000358511 NM_001102608.1 1611 ggAGGAGAGGCa/gga 0 In_Frame_Del AGGAGAGGC 11 COL6A6 DEL 3 AGGAGAGGC - 131823380 131823372 Baylor CPT2 1376 hgsc.bcm.edu GRCh37 1 53676140 53676140 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371486.3:c.794G>C p.Ser265Thr p.S265T ENST00000371486 NM_000098.2 265 aGc/aCc 0 Missense_Mutation G 34 CPT2 SNP 1 G C 53448728 53448728 Baylor CYP11B2 1585 hgsc.bcm.edu GRCh37 8 143996483 143996483 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000323110.2:c.574del p.Ile192SerfsTer6 p.I192Sfs*6 ENST00000323110 NM_000498.3 192 Atc/tc 0 Frame_Shift_Del T 51 CYP11B2 DEL 8 T - 143993485 143993485 Baylor DLEC1 9940 hgsc.bcm.edu GRCh37 3 38139130 38139130 + splice_donor_variant Splice_Site SNP T T A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000308059.6:c.2565+2T>A p.X855_splice ENST00000308059 0 Splice_Site_SNP T 59 DLEC1 SNP 3 T A 38114134 38114134 Baylor DUOX2 50506 hgsc.bcm.edu GRCh37 15 45397933 45397933 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000603300.1:c.2242G>A p.Glu748Lys p.E748K ENST00000603300 NM_014080.4 748 Gag/Aag 0 Missense_Mutation C 29 DUOX2 SNP 15 C T 43185225 43185225 Baylor DZIP1 22873 hgsc.bcm.edu GRCh37 13 96293581 96293581 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000347108.3:c.565C>T p.Leu189= p.L189= ENST00000347108 189 Ctg/Ttg 0 Silent G 34 DZIP1 SNP 13 G A 95091582 95091582 Baylor ELFN2 114794 hgsc.bcm.edu GRCh37 22 37770642 37770642 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000402918.2:c.933G>T p.Leu311= p.L311= ENST00000402918 NM_052906.3 311 ctG/ctT 0 Silent C 21 ELFN2 SNP 22 C A 36100588 36100588 Baylor EPN2 22905 hgsc.bcm.edu GRCh37 17 19215404 19215404 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000314728.5:c.919A>T p.Met307Leu p.M307L ENST00000314728 NM_014964.4 307 Atg/Ttg 0 Missense_Mutation A 12 EPN2 SNP 17 A T 19155997 19155997 Baylor FANCA 2175 hgsc.bcm.edu GRCh37 16 89815135 89815135 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000389301.3:c.3280A>G p.Ser1094Gly p.S1094G ENST00000389301 NM_000135.2 1094 Agc/Ggc 0 Missense_Mutation T 55 FANCA SNP 16 T C 88342636 88342636 Baylor FBXO25 26260 hgsc.bcm.edu GRCh37 8 418740 418740 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000276326.5:c.1040C>A p.Ala347Asp p.A347D ENST00000276326 NM_183421.1 347 gCc/gAc 0 Missense_Mutation C 26 FBXO25 SNP 8 C A 408740 408740 Baylor FLG2 388698 hgsc.bcm.edu GRCh37 1 152323539 152323539 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000388718.5:c.6723A>G p.Thr2241= p.T2241= ENST00000388718 NM_001014342.2 2241 acA/acG 0 Silent T 59 FLG2 SNP 1 T C 150590163 150590163 Baylor FLNB 2317 hgsc.bcm.edu GRCh37 3 58108886 58108886 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000490882.1:c.3193A>C p.Thr1065Pro p.T1065P ENST00000490882 NM_001164317.1 1065 Acc/Ccc 0 Missense_Mutation A 14 FLNB SNP 3 A C 58083926 58083926 Baylor FRS3 10817 hgsc.bcm.edu GRCh37 6 41740590 41740590 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373018.3:c.361C>T p.Arg121Cys p.R121C ENST00000373018 NM_006653.4 121 Cgc/Tgc 0 Missense_Mutation G 39 FRS3 SNP 6 G A 41848568 41848568 Baylor GATA5 140628 hgsc.bcm.edu GRCh37 20 61040480 61040480 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000252997.2:c.954C>G p.Ala318= p.A318= ENST00000252997 NM_080473.4 318 gcC/gcG 0 Silent G 47 GATA5 SNP 20 G C 60473875 60473875 Baylor GGA3 23163 hgsc.bcm.edu GRCh37 17 73235513 73235513 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000245541.6:c.1723A>T p.Lys575Ter p.K575* ENST00000245541 NM_138619.2 575 Aag/Tag 0 Nonsense_Mutation T 62 GGA3 SNP 17 T A 70747108 70747108 Baylor GIMAP7 168537 hgsc.bcm.edu GRCh37 7 150217607 150217607 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000313543.4:c.545T>A p.Val182Glu p.V182E ENST00000313543 NM_153236.3 182 gTg/gAg 0 Missense_Mutation T 59 GIMAP7 SNP 7 T A 149848540 149848540 Baylor GLRA3 8001 hgsc.bcm.edu GRCh37 4 175710033 175710033 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000274093.3:c.133G>C p.Asp45His p.D45H ENST00000274093 NM_006529.2 45 Gat/Cat 0 Missense_Mutation C 29 GLRA3 SNP 4 C G 175946608 175946608 Baylor GRIN2A 2903 hgsc.bcm.edu GRCh37 16 9857734 9857734 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000330684.3:c.3667A>T p.Thr1223Ser p.T1223S ENST00000330684 NM_001134407.1 1223 Acc/Tcc 0 Missense_Mutation T 59 GRIN2A SNP 16 T A 9765235 9765235 Baylor HDAC6 10013 hgsc.bcm.edu GRCh37 X 48663925 48663925 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000334136.5:c.392T>G p.Phe131Cys p.F131C ENST00000334136 131 tTt/tGt 0 Missense_Mutation T 64 HDAC6 SNP 23 T G 48548869 48548869 Baylor IGHMBP2 3508 hgsc.bcm.edu GRCh37 11 68696765 68696765 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000255078.3:c.1175C>T p.Ala392Val p.A392V ENST00000255078 NM_002180.2 392 gCc/gTc 0 Missense_Mutation C 26 IGHMBP2 SNP 11 C T 68453341 68453341 Baylor IL17RD 54756 hgsc.bcm.edu GRCh37 3 57135314 57135314 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000296318.7:c.1057del p.Arg353GlyfsTer19 p.R353Gfs*19 ENST00000296318 NM_017563.3 353 Cgg/gg 0 Frame_Shift_Del G 39 IL17RD DEL 3 G - 57110354 57110354 Baylor INTS9 55756 hgsc.bcm.edu GRCh37 8 28625766 28625766 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000521022.1:c.1874T>A p.Leu625His p.L625H ENST00000521022 NM_018250.3 625 cTc/cAc 0 Missense_Mutation A 11 INTS9 SNP 8 A T 28681685 28681685 Baylor INVS 27130 hgsc.bcm.edu GRCh37 9 103015295 103015295 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262457.2:c.1341C>G p.Ile447Met p.I447M ENST00000262457 NM_014425.3 447 atC/atG 0 Missense_Mutation C 29 INVS SNP 9 C G 102055116 102055116 Baylor IRAK3 11213 hgsc.bcm.edu GRCh37 12 66638320 66638320 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000261233.4:c.942G>T p.Met314Ile p.M314I ENST00000261233 NM_007199.2 314 atG/atT 0 Missense_Mutation G 47 IRAK3 SNP 12 G T 64924587 64924587 Baylor ITGA2B 3674 hgsc.bcm.edu GRCh37 17 42453020 42453020 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262407.5:c.2666G>T p.Arg889Leu p.R889L ENST00000262407 NM_000419.3 889 cGc/cTc 0 Missense_Mutation C 27 ITGA2B SNP 17 C A 39808546 39808546 Baylor KIAA0195 9772 hgsc.bcm.edu GRCh37 17 73491049 73491049 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000314256.7:c.2662C>G p.Pro888Ala p.P888A ENST00000314256 NM_014738.4 888 Cct/Gct 0 Missense_Mutation C 26 KIAA0195 SNP 17 C G 71002644 71002644 Baylor KIAA0430 9665 hgsc.bcm.edu GRCh37 16 15729640 15729640 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000396368.3:c.704G>T p.Gly235Val p.G235V ENST00000396368 NM_001184998.1 235 gGg/gTg 0 Missense_Mutation C 22 KIAA0430 SNP 16 C A 15637141 15637141 Baylor KIAA0430 9665 hgsc.bcm.edu GRCh37 16 15729646 15729646 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000396368.3:c.698C>T p.Ala233Val p.A233V ENST00000396368 NM_001184998.1 233 gCt/gTt 0 Missense_Mutation G 34 KIAA0430 SNP 16 G A 15637147 15637147 Baylor KIAA0430 9665 hgsc.bcm.edu GRCh37 16 15730002 15730005 + frameshift_variant Frame_Shift_Del DEL CATT CATT - novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 CATT CATT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000396368.3:c.339_342del p.Met114ValfsTer15 p.M114Vfs*15 ENST00000396368 NM_001184998.1 113 ccAATG/cc 0 Frame_Shift_Del CATT 25 KIAA0430 DEL 16 CATT - 15637506 15637503 Baylor EFCAB14 9813 hgsc.bcm.edu GRCh37 1 47183744 47183744 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371933.3:c.16G>A p.Glu6Lys p.E6K ENST00000371933 NM_014774.2 6 Gag/Aag 0 Missense_Mutation C 32 KIAA0494 SNP 1 C T 46956331 46956331 Baylor KIF5A 3798 hgsc.bcm.edu GRCh37 12 57975255 57975255 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000455537.2:c.2813C>G p.Thr938Ser p.T938S ENST00000455537 NM_004984.2 938 aCc/aGc 0 Missense_Mutation C 18 KIF5A SNP 12 C G 56261522 56261522 Baylor KTI12 112970 hgsc.bcm.edu GRCh37 1 52498572 52498572 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371614.1:c.862G>T p.Ala288Ser p.A288S ENST00000371614 NM_138417.2 288 Gcg/Tcg 0 Missense_Mutation C 28 KTI12 SNP 1 C A 52271160 52271160 Baylor LDOC1L 84247 hgsc.bcm.edu GRCh37 22 44892879 44892879 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000341255.3:c.558del p.Ala187ProfsTer122 p.A187Pfs*122 ENST00000341255 NM_032287.2 186 cgC/cg 0 Frame_Shift_Del G 38 LDOC1L DEL 22 G - 43271543 43271543 Baylor LRP10 26020 hgsc.bcm.edu GRCh37 14 23344860 23344860 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359591.4:c.703C>G p.Arg235Gly p.R235G ENST00000359591 NM_014045.3 235 Cgc/Ggc 0 Missense_Mutation C 27 LRP10 SNP 14 C G 22414700 22414700 Baylor MCM3 4172 hgsc.bcm.edu GRCh37 6 52138563 52138563 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000596288.1:c.1661C>T p.Ala554Val p.A554V ENST00000596288 NM_002388.4 554 gCa/gTa 0 Missense_Mutation G 46 MCM3 SNP 6 G A 52246522 52246522 Baylor MCM3AP 8888 hgsc.bcm.edu GRCh37 21 47662804 47662805 + frameshift_variant Frame_Shift_Ins INS - - GG novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397708.1:c.5337_5338insCC p.Lys1780ProfsTer5 p.K1780Pfs*5 ENST00000397708 1779 -/CC 0 Frame_Shift_Ins - 61 MCM3AP INS 21 - GG 46487233 46487232 Baylor MEIS2 4212 hgsc.bcm.edu GRCh37 15 37388540 37388540 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000561208.1:c.337G>A p.Val113Ile p.V113I ENST00000561208 113 Gtc/Atc 0 Missense_Mutation C 19 MEIS2 SNP 15 C T 35175832 35175832 Baylor MGA 23269 hgsc.bcm.edu GRCh37 15 42058784 42058784 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000219905.7:c.8504A>C p.Gln2835Pro p.Q2835P ENST00000219905 NM_001164273.1 2835 cAa/cCa 0 Missense_Mutation A 5 MGA SNP 15 A C 39846076 39846076 Baylor MS4A3 932 hgsc.bcm.edu GRCh37 11 59830067 59830067 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000278865.3:c.283G>T p.Gly95Cys p.G95C ENST00000278865 NM_006138.4 95 Ggt/Tgt 0 Missense_Mutation G 43 MS4A3 SNP 11 G T 59586643 59586643 Baylor MYO9A 4649 hgsc.bcm.edu GRCh37 15 72122642 72122642 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356056.5:c.6848G>A p.Arg2283His p.R2283H ENST00000356056 NM_006901.3 2283 cGt/cAt 0 Missense_Mutation C 19 MYO9A SNP 15 C T 69909696 69909696 Baylor NBPF7 343505 hgsc.bcm.edu GRCh37 1 120381827 120381827 + non_coding_transcript_exon_variant RNA SNP T T A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000401014.1:n.1439A>T *480* ENST00000401014 0 Missense_Mutation T 50 NBPF7 SNP 1 T A 120183350 120183350 Baylor OR8B4 283162 hgsc.bcm.edu GRCh37 11 124293927 124293927 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356130.3:c.841G>A p.Val281Ile p.V281I ENST00000356130 NM_001005196.1 281 Gtt/Att 0 Missense_Mutation C 18 OR8B4 SNP 11 C T 123799137 123799137 Baylor PCCB 5096 hgsc.bcm.edu GRCh37 3 136048831 136048845 + inframe_deletion In_Frame_Del DEL AACGTCCTTGGAGAA AACGTCCTTGGAGAA - novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 AACGTCCTTGGAGAA AACGTCCTTGGAGAA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000469217.1:c.1646_1660del p.Arg549_Lys553del p.R549_K553del ENST00000469217 NM_001178014.1 548 cAACGTCCTTGGAGAAaa/caa 0 In_Frame_Del AACGTCCTTGGAGAA 5 PCCB DEL 3 AACGTCCTTGGAGAA - 137531535 137531521 Baylor CDHR2 54825 hgsc.bcm.edu GRCh37 5 175995802 175995802 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000510636.1:c.248G>T p.Ser83Ile p.S83I ENST00000510636 NM_001171976.1 83 aGc/aTc 0 Missense_Mutation G 34 CDHR2 SNP 5 G T 175928408 175928408 Baylor PHACTR1 221692 hgsc.bcm.edu GRCh37 6 12749987 12749987 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000379348.2:c.215T>C p.Leu72Pro p.L72P ENST00000379348 72 cTc/cCc 0 Missense_Mutation T 54 PHACTR1 SNP 6 T C 12857973 12857973 Baylor PKN1 5585 hgsc.bcm.edu GRCh37 19 14580799 14580799 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000342216.4:c.2310G>T p.Glu770Asp p.E770D ENST00000342216 NM_213560.1 770 gaG/gaT 0 Missense_Mutation G 35 PKN1 SNP 19 G T 14441799 14441799 Baylor PLD3 23646 hgsc.bcm.edu GRCh37 19 40883999 40883999 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000409587.1:c.1392C>T p.Phe464= p.F464= ENST00000409587 464 ttC/ttT 0 Silent C 30 PLD3 SNP 19 C T 45575839 45575839 Baylor PLXNB2 23654 hgsc.bcm.edu GRCh37 22 50721158 50721158 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000449103.1:c.2969C>G p.Pro990Arg p.P990R ENST00000449103 990 cCg/cGg 0 Missense_Mutation G 39 PLXNB2 SNP 22 G C 49063285 49063285 Baylor PPP1R9A 55607 hgsc.bcm.edu GRCh37 7 94740576 94740576 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000433360.1:c.1401C>G p.Phe467Leu p.F467L ENST00000433360 NM_001166160.1 467 ttC/ttG 0 Missense_Mutation C 29 PPP1R9A SNP 7 C G 94578512 94578512 Baylor PPP2R5B 5526 hgsc.bcm.edu GRCh37 11 64699078 64699078 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000164133.2:c.993G>A p.Lys331= p.K331= ENST00000164133 NM_006244.3 331 aaG/aaA 0 Silent G 35 PPP2R5B SNP 11 G A 64455654 64455654 Baylor PRAG1 157285 hgsc.bcm.edu GRCh37 8 8185472 8185472 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000520004.1:c.2820G>A p.Leu940= p.L940= ENST00000520004 940 ctG/ctA 0 Silent C 29 PRAGMIN SNP 8 C T 8222882 8222882 Baylor PRDM15 63977 hgsc.bcm.edu GRCh37 21 43255630 43255630 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269844.3:c.2380G>A p.Asp794Asn p.D794N ENST00000269844 NM_022115.3 794 Gac/Aac 0 Missense_Mutation C 30 PRDM15 SNP 21 C T 42128699 42128699 Baylor PTPRT 11122 hgsc.bcm.edu GRCh37 20 40790162 40790174 + frameshift_variant Frame_Shift_Del DEL GCTCCCCGCGGCT GCTCCCCGCGGCT - novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 GCTCCCCGCGGCT GCTCCCCGCGGCT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373198.4:c.2557_2569del p.Ser853PhefsTer21 p.S853Ffs*21 ENST00000373198 NM_133170.3 853 AGCCGCGGGGAGCtt/tt 0 Frame_Shift_Del GCTCCCCGCGGCT 34 PTPRT DEL 20 GCTCCCCGCGGCT - 40223588 40223576 Baylor RAB2B 84932 hgsc.bcm.edu GRCh37 14 21931834 21931834 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000397762.1:c.455C>G p.Thr152Arg p.T152R ENST00000397762 NM_032846.3 152 aCa/aGa 0 Missense_Mutation G 48 RAB2B SNP 14 G C 21001674 21001674 Baylor RAPGEF1 2889 hgsc.bcm.edu GRCh37 9 134459790 134459790 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000372190.3:c.2818A>G p.Lys940Glu p.K940E ENST00000372190 NM_198679.1 940 Aag/Gag 0 Missense_Mutation T 62 RAPGEF1 SNP 9 T C 133449611 133449611 Baylor RIC8B 55188 hgsc.bcm.edu GRCh37 12 107254112 107254112 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000392839.2:c.1373T>G p.Leu458Trp p.L458W ENST00000392839 NM_018157.2 458 tTg/tGg 0 Missense_Mutation T 63 RIC8B SNP 12 T G 105778242 105778242 Baylor RNF168 165918 hgsc.bcm.edu GRCh37 3 196230042 196230042 + start_lost Translation_Start_Site SNP C C G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000318037.3:c.3G>C p.Met1? p.M1? ENST00000318037 NM_152617.3 1 atG/atC 0 Missense_Mutation C 21 RNF168 SNP 3 C G 197714439 197714439 Baylor RYR2 6262 hgsc.bcm.edu GRCh37 1 237948208 237948208 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000366574.2:c.13196A>G p.Asn4399Ser p.N4399S ENST00000366574 NM_001035.2 4399 aAt/aGt 0 Missense_Mutation A 4 RYR2 SNP 1 A G 236014831 236014831 Baylor SGSM2 9905 hgsc.bcm.edu GRCh37 17 2270633 2270633 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000268989.3:c.1357G>A p.Asp453Asn p.D453N ENST00000268989 NM_014853.2 453 Gat/Aat 0 Missense_Mutation G 41 SGSM2 SNP 17 G A 2217383 2217383 Baylor SH3GLB2 56904 hgsc.bcm.edu GRCh37 9 131776773 131776773 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372564.3:c.478C>G p.Arg160Gly p.R160G ENST00000372564 NM_020145.2 160 Cgg/Ggg 0 Missense_Mutation G 38 SH3GLB2 SNP 9 G C 130816594 130816594 Baylor SLC16A13 201232 hgsc.bcm.edu GRCh37 17 6941911 6941911 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000308027.6:c.784G>A p.Asp262Asn p.D262N ENST00000308027 NM_201566.2 262 Gac/Aac 0 Missense_Mutation G 45 SLC16A13 SNP 17 G A 6882635 6882635 Baylor SLC29A1 2030 hgsc.bcm.edu GRCh37 6 44197351 44197351 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393841.1:c.137C>T p.Ser46Phe p.S46F ENST00000393841 NM_001078177.1 46 tCc/tTc 0 Missense_Mutation C 30 SLC29A1 SNP 6 C T 44305329 44305329 Baylor SLC5A1 6523 hgsc.bcm.edu GRCh37 22 32495226 32495226 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000266088.4:c.1337C>G p.Ser446Ter p.S446* ENST00000266088 NM_000343.3 446 tCa/tGa 0 Nonsense_Mutation C 29 SLC5A1 SNP 22 C G 30825226 30825226 Baylor SLC7A10 56301 hgsc.bcm.edu GRCh37 19 33702378 33702378 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000253188.4:c.854T>C p.Ile285Thr p.I285T ENST00000253188 NM_019849.2 285 aTt/aCt 0 Missense_Mutation A 4 SLC7A10 SNP 19 A G 38394218 38394218 Baylor SPHKAP 80309 hgsc.bcm.edu GRCh37 2 228883302 228883302 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000392056.3:c.2268G>A p.Pro756= p.P756= ENST00000392056 NM_001142644.1 756 ccG/ccA 0 Silent C 23 SPHKAP SNP 2 C T 228591546 228591546 Baylor SRP72 6731 hgsc.bcm.edu GRCh37 4 57354131 57354131 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000342756.5:c.1176A>C p.Ala392= p.A392= ENST00000342756 NM_006947.3 392 gcA/gcC 0 Silent A 8 SRP72 SNP 4 A C 57048888 57048888 Baylor STAB2 55576 hgsc.bcm.edu GRCh37 12 104152993 104152993 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000388887.2:c.7190T>G p.Leu2397Arg p.L2397R ENST00000388887 NM_017564.9 2397 cTg/cGg 0 Missense_Mutation T 55 STAB2 SNP 12 T G 102677123 102677123 Baylor TBCCD1 55171 hgsc.bcm.edu GRCh37 3 186276355 186276355 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000424280.1:c.343G>T p.Val115Leu p.V115L ENST00000424280 NM_001134415.1 115 Gtg/Ttg 0 Missense_Mutation C 20 TBCCD1 SNP 3 C A 187759049 187759049 Baylor THADA 63892 hgsc.bcm.edu GRCh37 2 43804363 43804363 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000405006.4:c.835C>T p.Arg279Cys p.R279C ENST00000405006 NM_001083953.1 279 Cgt/Tgt 0 Missense_Mutation G 37 THADA SNP 2 G A 43657867 43657867 Baylor THADA 63892 hgsc.bcm.edu GRCh37 2 43804366 43804366 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000405006.4:c.832C>T p.Leu278Phe p.L278F ENST00000405006 NM_001083953.1 278 Ctt/Ttt 0 Missense_Mutation G 34 THADA SNP 2 G A 43657870 43657870 Baylor NDC1 55706 hgsc.bcm.edu GRCh37 1 54262676 54262676 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371429.3:c.1364T>A p.Val455Glu p.V455E ENST00000371429 NM_001168551.1 455 gTa/gAa 0 Missense_Mutation A 14 TMEM48 SNP 1 A T 54035264 54035264 Baylor TMPRSS3 64699 hgsc.bcm.edu GRCh37 21 43803308 43803308 + splice_acceptor_variant Splice_Site SNP C C A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000291532.3:c.617-1G>T p.X206_splice ENST00000291532 NM_032404.2 0 Splice_Site_SNP C 28 TMPRSS3 SNP 21 C A 42676377 42676377 Baylor TOM1 10043 hgsc.bcm.edu GRCh37 22 35730380 35730380 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000411850.1:c.1087G>A p.Glu363Lys p.E363K ENST00000411850 NM_001135732.1 363 Gaa/Aaa 0 Missense_Mutation G 41 TOM1 SNP 22 G A 34060380 34060380 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578530 7578530 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000269305.4:c.400T>G p.Phe134Val p.F134V ENST00000269305 NM_001126112.2 134 Ttt/Gtt 0 Missense_Mutation A 2 TP53 SNP 17 A C 7519255 7519255 Baylor TPO 7173 hgsc.bcm.edu GRCh37 2 1507747 1507747 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000345913.4:c.2414A>T p.His805Leu p.H805L ENST00000345913 NM_000547.5 805 cAc/cTc 0 Missense_Mutation A 6 TPO SNP 2 A T 1486754 1486754 Baylor TRIM42 287015 hgsc.bcm.edu GRCh37 3 140406783 140406783 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000286349.3:c.1259T>C p.Val420Ala p.V420A ENST00000286349 NM_152616.4 420 gTg/gCg 0 Missense_Mutation T 59 TRIM42 SNP 3 T C 141889473 141889473 Baylor TRIP12 9320 hgsc.bcm.edu GRCh37 2 230723854 230723854 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000283943.5:c.535G>A p.Ala179Thr p.A179T ENST00000283943 NM_004238.1 179 Gct/Act 0 Missense_Mutation C 26 TRIP12 SNP 2 C T 230432098 230432098 Baylor TYK2 7297 hgsc.bcm.edu GRCh37 19 10476311 10476311 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000525621.1:c.893T>A p.Val298Glu p.V298E ENST00000525621 NM_003331.4 298 gTg/gAg 0 Missense_Mutation A 6 TYK2 SNP 19 A T 10337311 10337311 Baylor UBQLN3 50613 hgsc.bcm.edu GRCh37 11 5529137 5529137 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311659.4:c.1652G>A p.Gly551Glu p.G551E ENST00000311659 NM_017481.2 551 gGg/gAg 0 Missense_Mutation C 22 UBQLN3 SNP 11 C T 5485713 5485713 Baylor USO1 8615 hgsc.bcm.edu GRCh37 4 76708345 76708345 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000538159.1:c.992T>C p.Ile331Thr p.I331T ENST00000538159 331 aTc/aCc 0 Missense_Mutation T 50 USO1 SNP 4 T C 76927369 76927369 Baylor USP49 25862 hgsc.bcm.edu GRCh37 6 41773380 41773380 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373006.1:c.1342C>A p.Gln448Lys p.Q448K ENST00000373006 NM_018561.3 448 Cag/Aag 0 Missense_Mutation G 46 USP49 SNP 6 G T 41881358 41881358 Baylor USP54 159195 hgsc.bcm.edu GRCh37 10 75277306 75277306 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000339859.4:c.2878G>A p.Glu960Lys p.E960K ENST00000339859 960 Gaa/Aaa 0 Missense_Mutation C 29 USP54 SNP 10 C T 74947312 74947312 Baylor ZEB2 9839 hgsc.bcm.edu GRCh37 2 145156418 145156418 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000558170.2:c.2336G>A p.Arg779Lys p.R779K ENST00000558170 NM_014795.3 779 aGg/aAg 0 Missense_Mutation C 24 ZEB2 SNP 2 C T 144872888 144872888 Baylor ZNF460 10794 hgsc.bcm.edu GRCh37 19 57802492 57802492 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360338.3:c.583C>A p.Pro195Thr p.P195T ENST00000360338 NM_006635.3 195 Ccc/Acc 0 Missense_Mutation C 26 ZNF460 SNP 19 C A 62494304 62494304 Baylor ZNF546 339327 hgsc.bcm.edu GRCh37 19 40513218 40513218 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000347077.4:c.209C>G p.Ser70Cys p.S70C ENST00000347077 NM_178544.3 70 tCc/tGc 0 Missense_Mutation C 30 ZNF546 SNP 19 C G 45205058 45205058 Baylor ZNF573 126231 hgsc.bcm.edu GRCh37 19 38230475 38230475 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000590414.2:c.916A>G p.Lys306Glu p.K306E ENST00000590414 306 Aaa/Gaa 0 Missense_Mutation T 62 ZNF573 SNP 19 T C 42922315 42922315 Baylor ZNF780B 163131 hgsc.bcm.edu GRCh37 19 40541695 40541695 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000434248.1:c.1071T>G p.Gly357= p.G357= ENST00000434248 NM_001005851.2 357 ggT/ggG 0 Silent A 6 ZNF780B SNP 19 A C 45233535 45233535 Baylor ZNF823 55552 hgsc.bcm.edu GRCh37 19 11833208 11833208 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0906-01 TCGA-13-0906-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000341191.6:c.1141A>G p.Thr381Ala p.T381A ENST00000341191 NM_001080493.2 381 Aca/Gca 0 Missense_Mutation T 60 ZNF823 SNP 19 T C 11694208 11694208 Baylor SZT2 23334 broad.mit.edu GRCh37 1 43898739 43898739 + synonymous_variant Silent SNP G G A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000562955.1:c.5511G>A p.Arg1837= p.R1837= ENST00000562955 NM_015284.3 1837 cgG/cgA 0 Silent G 41 KIAA0467 SNP 1 G A 43671326 43671326 Broad TMEM53 79639 broad.mit.edu GRCh37 1 45120309 45120309 + synonymous_variant Silent SNP G G A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000372237.3:c.756C>T p.His252= p.H252= ENST00000372237 NM_024587.2 252 caC/caT 0 Silent G 40 TMEM53 SNP 1 G A 44892896 44892896 Broad FAM73A 374986 broad.mit.edu GRCh37 1 78248936 78248936 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000370791.3:c.95C>A p.Ala32Asp p.A32D ENST00000370791 NM_001270384.1 32 gCc/gAc 0 Missense_Mutation C 26 FAM73A SNP 1 C A 78021524 78021524 Broad GFI1 2672 broad.mit.edu GRCh37 1 92948474 92948474 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000370332.1:c.245G>A p.Arg82Gln p.R82Q ENST00000370332 NM_001127215.1 82 cGg/cAg 0 Missense_Mutation C 23 GFI1 SNP 1 C T 92721062 92721062 Broad GSTM1 2944 broad.mit.edu GRCh37 1 110230857 110230858 + missense_variant Missense_Mutation DNP GA GA TC novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000309851.5:c.102_103inv p.Met35Leu p.M35L ENST00000309851 NM_000561.3 34 acGAtg/acTCtg 0 Missense_Mutation GA 37 GSTM1 DNP 1 GA TC 110032381 110032380 Broad KIF14 9928 broad.mit.edu GRCh37 1 200522809 200522809 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000367350.4:c.4654C>T p.Pro1552Ser p.P1552S ENST00000367350 NM_014875.2 1552 Cct/Tct 0 Missense_Mutation G 42 KIF14 SNP 1 G A 198789432 198789432 Broad AHCTF1 25909 broad.mit.edu GRCh37 1 247079566 247079566 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000326225.3:c.280G>A p.Glu94Lys p.E94K ENST00000326225 NM_015446.4 94 Gaa/Aaa 0 Missense_Mutation C 32 AHCTF1 SNP 1 C T 245146189 245146189 Broad KAT6B 23522 broad.mit.edu GRCh37 10 76784924 76784924 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000287239.4:c.3581A>T p.Gln1194Leu p.Q1194L ENST00000287239 NM_001256468.1 1194 cAg/cTg 0 Missense_Mutation A 7 MYST4 SNP 10 A T 76454930 76454930 Broad PAAF1 80227 broad.mit.edu GRCh37 11 73611394 73611394 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000310571.3:c.461T>A p.Met154Lys p.M154K ENST00000310571 NM_025155.2 154 aTg/aAg 0 Missense_Mutation T 51 PAAF1 SNP 11 T A 73289042 73289042 Broad PRMT8 56341 broad.mit.edu GRCh37 12 3686074 3686074 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000382622.3:c.750C>G p.Ile250Met p.I250M ENST00000382622 NM_019854.4 250 atC/atG 0 Missense_Mutation C 30 PRMT8 SNP 12 C G 3556335 3556335 Broad MGAT4C 25834 broad.mit.edu GRCh37 12 86377377 86377377 + synonymous_variant Silent SNP G G A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000604798.1:c.219C>T p.Phe73= p.F73= ENST00000604798 73 ttC/ttT 0 Silent G 45 MGAT4C SNP 12 G A 84901508 84901508 Broad P2RX2 22953 broad.mit.edu GRCh37 12 133198402 133198402 + synonymous_variant Silent SNP C C A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000343948.4:c.1338C>A p.Gly446= p.G446= ENST00000343948 NM_001282165.1 446 ggC/ggA 0 Silent C 26 P2RX2 SNP 12 C A 131708475 131708475 Broad JPH4 84502 broad.mit.edu GRCh37 14 24040671 24040671 + splice_acceptor_variant Splice_Site SNP T T A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000397118.3:c.1271-2A>T p.X424_splice ENST00000397118 NM_032452.2 0 Splice_Site_SNP T 55 JPH4 SNP 14 T A 23110511 23110511 Broad ZFYVE26 23503 broad.mit.edu GRCh37 14 68252856 68252856 + synonymous_variant Silent SNP A A C novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000347230.4:c.3114T>G p.Leu1038= p.L1038= ENST00000347230 NM_015346.3 1038 ctT/ctG 0 Silent A 13 ZFYVE26 SNP 14 A C 67322609 67322609 Broad SLC8A3 6547 broad.mit.edu GRCh37 14 70633727 70633727 + synonymous_variant Silent SNP G G A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000381269.2:c.1413C>T p.Asp471= p.D471= ENST00000381269 NM_183002.1 471 gaC/gaT 0 Silent G 40 SLC8A3 SNP 14 G A 69703480 69703480 Broad FMN1 342184 broad.mit.edu GRCh37 15 33066556 33066556 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000334528.9:c.3547-1G>C p.X1183_splice ENST00000334528 NM_001103184.3 0 Splice_Site_SNP C 32 FMN1 SNP 15 C G 30853848 30853848 Broad SPATA5L1 79029 broad.mit.edu GRCh37 15 45713252 45713252 + synonymous_variant Silent SNP G G T novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000305560.6:c.2106G>T p.Leu702= p.L702= ENST00000305560 NM_024063.2 702 ctG/ctT 0 Silent G 47 SPATA5L1 SNP 15 G T 43500544 43500544 Broad IST1 9798 broad.mit.edu GRCh37 16 71954710 71954710 + synonymous_variant Silent SNP A A G novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000535424.1:c.465A>G p.Gly155= p.G155= ENST00000535424 155 ggA/ggG 0 Silent A 9 KIAA0174 SNP 16 A G 70512211 70512211 Broad TRPV1 7442 broad.mit.edu GRCh37 17 3493627 3493627 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000571088.1:c.664G>A p.Val222Met p.V222M ENST00000571088 NM_018727.5 222 Gtg/Atg 0 Missense_Mutation C 18 TRPV1 SNP 17 C T 3440376 3440376 Broad TP53 7157 broad.mit.edu GRCh37 17 7577550 7577550 + missense_variant Missense_Mutation SNP C C T rs28934572 Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.731G>A p.Gly244Asp p.G244D ENST00000269305 NM_001126112.2 244 gGc/gAc 0 Missense_Mutation C 26 TP53 SNP 17 C T 7518275 7518275 Broad LLGL1 3996 broad.mit.edu GRCh37 17 18138572 18138572 + synonymous_variant Silent SNP C C A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000316843.4:c.1230C>A p.Ala410= p.A410= ENST00000316843 NM_004140.3 410 gcC/gcA 0 Silent C 22 LLGL1 SNP 17 C A 18079297 18079297 Broad BRCA1 672 broad.mit.edu GRCh37 17 41246256 41246256 + stop_gained Nonsense_Mutation SNP A A C novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000357654.3:c.1292T>G p.Leu431Ter p.L431* ENST00000357654 NM_007294.3 431 tTa/tGa 0 Nonsense_Mutation A 13 BRCA1 SNP 17 A C 38499782 38499782 Broad PTGIR 5739 broad.mit.edu GRCh37 19 47127045 47127045 + synonymous_variant Silent SNP G G A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000291294.2:c.438C>T p.Phe146= p.F146= ENST00000291294 NM_000960.3 146 ttC/ttT 0 Silent G 33 PTGIR SNP 19 G A 51818885 51818885 Broad MYBPC2 4606 broad.mit.edu GRCh37 19 50962177 50962177 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000357701.5:c.2509C>A p.Pro837Thr p.P837T ENST00000357701 NM_004533.3 837 Cca/Aca 0 Missense_Mutation C 26 MYBPC2 SNP 19 C A 55653989 55653989 Broad CACNG6 59285 broad.mit.edu GRCh37 19 54501503 54501503 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000252729.2:c.342C>A p.Cys114Ter p.C114* ENST00000252729 NM_145814.1 114 tgC/tgA 0 Nonsense_Mutation C 25 CACNG6 SNP 19 C A 59193315 59193315 Broad LILRA6 79168 broad.mit.edu GRCh37 19 54744933 54744933 + synonymous_variant Silent SNP G G T novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000396365.2:c.729C>A p.Leu243= p.L243= ENST00000396365 NM_024318.2 243 ctC/ctA 0 Silent G 41 LILRA6 SNP 19 G T 59436745 59436745 Broad RAB10 10890 broad.mit.edu GRCh37 2 26350058 26350058 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000264710.4:c.373G>A p.Asp125Asn p.D125N ENST00000264710 NM_016131.4 125 Gat/Aat 0 Missense_Mutation G 45 RAB10 SNP 2 G A 26203562 26203562 Broad CYP26B1 56603 broad.mit.edu GRCh37 2 72371254 72371254 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000001146.2:c.293G>T p.Gly98Val p.G98V ENST00000001146 NM_019885.3 98 gGc/gTc 0 Missense_Mutation C 26 CYP26B1 SNP 2 C A 72224762 72224762 Broad BUB1 699 broad.mit.edu GRCh37 2 111415138 111415138 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000302759.6:c.1601A>G p.Asn534Ser p.N534S ENST00000302759 NM_004336.4 534 aAc/aGc 0 Missense_Mutation T 60 BUB1 SNP 2 T C 111131611 111131611 Broad CLASP1 23332 broad.mit.edu GRCh37 2 122218678 122218678 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000263710.4:c.1031C>T p.Ala344Val p.A344V ENST00000263710 NM_015282.2 344 gCt/gTt 0 Missense_Mutation G 34 CLASP1 SNP 2 G A 121935148 121935148 Broad FIGN 55137 broad.mit.edu GRCh37 2 164467021 164467021 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000333129.3:c.1321C>A p.Pro441Thr p.P441T ENST00000333129 NM_018086.2 441 Cca/Aca 0 Missense_Mutation G 43 FIGN SNP 2 G T 164175267 164175267 Broad TTN 7273 broad.mit.edu GRCh37 2 179404667 179404667 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.98125A>T p.Arg32709Ter p.R32709* ENST00000589042 NM_001267550.1 32709 Aga/Tga 0 Nonsense_Mutation T 56 TTN SNP 2 T A 179112913 179112913 Broad TTN 7273 broad.mit.edu GRCh37 2 179648841 179648841 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.2731G>A p.Val911Ile p.V911I ENST00000589042 NM_001267550.1 911 Gtc/Atc 0 Missense_Mutation C 19 TTN SNP 2 C T 179357086 179357086 Broad MPP4 58538 broad.mit.edu GRCh37 2 202539965 202539965 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000409474.3:c.959C>T p.Pro320Leu p.P320L ENST00000409474 NM_033066.2 320 cCg/cTg 0 Missense_Mutation G 39 MPP4 SNP 2 G A 202248210 202248210 Broad UBOX5 22888 broad.mit.edu GRCh37 20 3102634 3102634 + synonymous_variant Silent SNP C C T novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000217173.2:c.651G>A p.Leu217= p.L217= ENST00000217173 NM_001267584.1 217 ctG/ctA 0 Silent C 25 UBOX5 SNP 20 C T 3050634 3050634 Broad ZNFX1 57169 broad.mit.edu GRCh37 20 47865203 47865203 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000396105.1:c.4358T>G p.Phe1453Cys p.F1453C ENST00000396105 NM_021035.2 1453 tTc/tGc 0 Missense_Mutation A 9 ZNFX1 SNP 20 A C 47298610 47298610 Broad ZNF70 7621 broad.mit.edu GRCh37 22 24086478 24086478 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000341976.3:c.850C>G p.Leu284Val p.L284V ENST00000341976 NM_021916.2 284 Ctc/Gtc 0 Missense_Mutation G 33 ZNF70 SNP 22 G C 22416478 22416478 Broad EWSR1 2130 broad.mit.edu GRCh37 22 29692304 29692304 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000414183.2:c.1255A>G p.Thr419Ala p.T419A ENST00000414183 419 Aca/Gca 0 Missense_Mutation A 6 EWSR1 SNP 22 A G 28022304 28022304 Broad ZNF621 285268 broad.mit.edu GRCh37 3 40573881 40573881 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000339296.5:c.620A>G p.Tyr207Cys p.Y207C ENST00000339296 NM_198484.3 207 tAt/tGt 0 Missense_Mutation A 16 ZNF621 SNP 3 A G 40548885 40548885 Broad HHATL 57467 broad.mit.edu GRCh37 3 42738341 42738341 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000441594.1:c.1039C>A p.Leu347Ile p.L347I ENST00000441594 NM_020707.3 347 Ctt/Att 0 Missense_Mutation G 34 HHATL SNP 3 G T 42713345 42713345 Broad MANF 7873 broad.mit.edu GRCh37 3 51426479 51426479 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000528157.1:c.508A>C p.Lys170Gln p.K170Q ENST00000528157 NM_006010.4 170 Aaa/Caa 0 Missense_Mutation A 13 MANF SNP 3 A C 51401519 51401519 Broad ODAM 54959 broad.mit.edu GRCh37 4 71064329 71064329 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000396094.2:c.409C>G p.Gln137Glu p.Q137E ENST00000396094 NM_017855.3 137 Caa/Gaa 0 Missense_Mutation C 29 ODAM SNP 4 C G 71098918 71098918 Broad PLAC8 51316 broad.mit.edu GRCh37 4 84026174 84026174 + splice_acceptor_variant Splice_Site SNP C C A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000426923.2:c.119-1G>T p.X40_splice ENST00000426923 NM_001130715.1 0 Splice_Site_SNP C 24 PLAC8 SNP 4 C A 84245198 84245198 Broad KIAA1109 84162 broad.mit.edu GRCh37 4 123132179 123132179 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000264501.4:c.2176G>C p.Glu726Gln p.E726Q ENST00000264501 726 Gaa/Caa 0 Missense_Mutation G 33 KIAA1109 SNP 4 G C 123351629 123351629 Broad MROH2B 133558 broad.mit.edu GRCh37 5 41033155 41033155 + synonymous_variant Silent SNP A A T novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000399564.4:c.2349T>A p.Ile783= p.I783= ENST00000399564 NM_173489.4 783 atT/atA 0 Silent A 5 HEATR7B2 SNP 5 A T 41068912 41068912 Broad TRIM36 55521 broad.mit.edu GRCh37 5 114469588 114469588 + synonymous_variant Silent SNP T T C novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000282369.3:c.1503A>G p.Arg501= p.R501= ENST00000282369 NM_018700.3 501 agA/agG 0 Silent T 54 TRIM36 SNP 5 T C 114497487 114497487 Broad HSD17B4 3295 broad.mit.edu GRCh37 5 118835234 118835234 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000504811.1:c.1270A>G p.Ile424Val p.I424V ENST00000504811 NM_001199291.1 424 Atc/Gtc 0 Missense_Mutation A 4 HSD17B4 SNP 5 A G 118863133 118863133 Broad GRIA1 2890 broad.mit.edu GRCh37 5 153190758 153190758 + synonymous_variant Silent SNP G G A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000518783.1:c.2724G>A p.Gly908= p.G908= ENST00000518783 NM_001258021.1 908 ggG/ggA 0 Silent G 41 GRIA1 SNP 5 G A 153170951 153170951 Broad GABRA6 2559 broad.mit.edu GRCh37 5 161128619 161128619 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000274545.5:c.1202C>T p.Pro401Leu p.P401L ENST00000274545 401 cCt/cTt 0 Missense_Mutation C 24 GABRA6 SNP 5 C T 161061197 161061197 Broad HLA-G 3135 broad.mit.edu GRCh37 6 29797596 29797596 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000428701.1:c.899A>C p.Gln300Pro p.Q300P ENST00000428701 NM_002127.5 300 cAg/cCg 0 Missense_Mutation A 7 HLA-G SNP 6 A C 29905575 29905575 Broad DNAH8 1769 broad.mit.edu GRCh37 6 38867667 38867667 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000359357.3:c.8528A>C p.Gln2843Pro p.Q2843P ENST00000359357 2843 cAg/cCg 0 Missense_Mutation A 7 DNAH8 SNP 6 A C 38975645 38975645 Broad GPR63 81491 broad.mit.edu GRCh37 6 97247257 97247257 + synonymous_variant Silent SNP G G A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000229955.3:c.351C>T p.Asn117= p.N117= ENST00000229955 NM_030784.3 117 aaC/aaT 0 Silent G 48 GPR63 SNP 6 G A 97353978 97353978 Broad SYNE1 23345 broad.mit.edu GRCh37 6 152590381 152590381 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000367255.5:c.18614C>A p.Thr6205Lys p.T6205K ENST00000367255 NM_182961.3 6205 aCa/aAa 0 Missense_Mutation G 48 SYNE1 SNP 6 G T 152632074 152632074 Broad LPA 4018 broad.mit.edu GRCh37 6 160977189 160977189 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000447678.1:c.4841G>A p.Arg1614Gln p.R1614Q ENST00000447678 NM_005577.2 1614 cGg/cAg 0 Missense_Mutation C 23 LPA SNP 6 C T 160897179 160897179 Broad CARD11 84433 broad.mit.edu GRCh37 7 2968267 2968267 + synonymous_variant Silent SNP G G A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000396946.4:c.1719C>T p.Ile573= p.I573= ENST00000396946 NM_032415.4 573 atC/atT 0 Silent G 37 CARD11 SNP 7 G A 2934793 2934793 Broad CHPF2 54480 broad.mit.edu GRCh37 7 150933500 150933500 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000035307.2:c.835C>A p.Gln279Lys p.Q279K ENST00000035307 NM_019015.1 279 Cag/Aag 0 Missense_Mutation C 25 CHPF2 SNP 7 C A 150564433 150564433 Broad PTPRN2 5799 broad.mit.edu GRCh37 7 157874041 157874041 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000389418.4:c.1672G>A p.Val558Met p.V558M ENST00000389418 NM_002847.3 558 Gtg/Atg 0 Missense_Mutation C 20 PTPRN2 SNP 7 C T 157566802 157566802 Broad NCAPG2 54892 broad.mit.edu GRCh37 7 158476049 158476049 + synonymous_variant Silent SNP G G A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000409423.1:c.867C>T p.Phe289= p.F289= ENST00000409423 NM_001281932.1 289 ttC/ttT 0 Silent G 45 NCAPG2 SNP 7 G A 158168810 158168810 Broad CSMD3 114788 broad.mit.edu GRCh37 8 113358402 113358402 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000297405.5:c.6366C>G p.Ile2122Met p.I2122M ENST00000297405 NM_198123.1 2122 atC/atG 0 Missense_Mutation G 41 CSMD3 SNP 8 G C 113427578 113427578 Broad C5 727 broad.mit.edu GRCh37 9 123739086 123739086 + synonymous_variant Silent SNP G G C novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000223642.1:c.3756C>G p.Ala1252= p.A1252= ENST00000223642 NM_001735.2 1252 gcC/gcG 0 Silent G 35 C5 SNP 9 G C 122778907 122778907 Broad NTNG2 84628 broad.mit.edu GRCh37 9 135073452 135073452 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000393229.3:c.313A>C p.Thr105Pro p.T105P ENST00000393229 NM_032536.2 105 Acc/Ccc 0 Missense_Mutation A 6 NTNG2 SNP 9 A C 134063273 134063273 Broad NOTCH1 4851 broad.mit.edu GRCh37 9 139396504 139396504 + synonymous_variant Silent SNP G G A novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000277541.6:c.5421C>T p.Asp1807= p.D1807= ENST00000277541 NM_017617.3 1807 gaC/gaT 0 Silent G 40 NOTCH1 SNP 9 G A 138516325 138516325 Broad ACRC 93953 broad.mit.edu GRCh37 X 70824340 70824340 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000373695.1:c.1213C>G p.Pro405Ala p.P405A ENST00000373695 405 Cct/Gct 0 Missense_Mutation C 18 ACRC SNP 23 C G 70741065 70741065 Broad COL4A5 1287 broad.mit.edu GRCh37 X 107858228 107858229 + missense_variant Missense_Mutation DNP GG GG AT novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000328300.6:c.2483_2484delinsAT p.Gly828Asp p.G828D ENST00000328300 NM_033380.2 828 gGG/gAT 0 Missense_Mutation GG 43 COL4A5 DNP 23 GG AT 107744885 107744884 Broad AIFM1 9131 broad.mit.edu GRCh37 X 129263595 129263595 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown x x x ENST00000287295.3:c.1779G>C p.Lys593Asn p.K593N ENST00000287295 NM_004208.3 593 aaG/aaC 0 Missense_Mutation C 24 AIFM1 SNP 23 C G 129091276 129091276 Broad FAM167B 84734 broad.mit.edu GRCh37 1 32714092 32714097 + inframe_deletion In_Frame_Del DEL GAGCTG GAGCTG - novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000373582.3:c.398_403del p.Leu133_Glu134del p.L133_E134del ENST00000373582 NM_032648.2 128 GAGCTG/- 0 In_Frame_Del GAGCTG 37 FAM167B DEL 1 - GAGCTG 32486684 32486679 Broad ZNF573 126231 broad.mit.edu GRCh37 19 38230880 38230881 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000590414.2:c.510dup p.Phe171LeufsTer3 p.F171Lfs*3 ENST00000590414 170 -/C 0 Frame_Shift_Ins - 3 ZNF573 INS 19 G - 42922721 42922720 Broad TBP 6908 broad.mit.edu GRCh37 6 170871013 170871014 + inframe_insertion In_Frame_Ins INS - - CAG novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000392092.2:c.213_215dupGCA p.Gln95dup p.Q95dup ENST00000392092 NM_003194.4 63 -/CAG 0 In_Frame_Ins - 2 TBP INS 6 CAG - 170712939 170712938 Broad VPS13A 23230 broad.mit.edu GRCh37 9 79897051 79897051 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-29-2427-01 TCGA-29-2427-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000360280.3:c.2981del p.Leu994TrpfsTer11 p.L994Wfs*11 ENST00000360280 NM_033305.2 993 tcT/tc 0 Frame_Shift_Del T 56 VPS13A DEL 9 - T 79086871 79086871 Broad ARHGAP17 55114 hgsc.bcm.edu GRCh37 16 24958825 24958827 + inframe_deletion In_Frame_Del DEL AGT AGT - novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 AGT AGT . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000289968.6:c.1217_1219del p.Asn406_Leu407delinsMet p.N406_L407delinsM ENST00000289968 NM_001006634.1 406 aACTtg/atg 0 In_Frame_Del AGT 3 ARHGAP17 DEL 16 AGT - 24866328 24866326 Baylor ARHGAP6 395 hgsc.bcm.edu GRCh37 X 11187694 11187694 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000337414.4:c.1740G>A p.Arg580= p.R580= ENST00000337414 NM_013427.2 580 cgG/cgA 0 Silent C 22 ARHGAP6 SNP 23 C T 11097615 11097615 Baylor C19orf57 79173 hgsc.bcm.edu GRCh37 19 14001101 14001101 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000346736.2:c.568C>A p.Gln190Lys p.Q190K ENST00000346736 NM_024323.3 190 Cag/Aag 0 Missense_Mutation G 45 C19orf57 SNP 19 G T 13862101 13862101 Baylor C1orf173 127254 hgsc.bcm.edu GRCh37 1 75038387 75038387 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000326665.5:c.3007G>T p.Ala1003Ser p.A1003S ENST00000326665 NM_001002912.4 1003 Gca/Tca 0 Missense_Mutation C 26 C1orf173 SNP 1 C A 74810975 74810975 Baylor CHST15 51363 hgsc.bcm.edu GRCh37 10 125780792 125780794 + inframe_deletion In_Frame_Del DEL TGT TGT - novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 TGT TGT . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000346248.5:c.1325_1327del p.Asn442del p.N442del ENST00000346248 NM_015892.4 442 aACAcc/acc 0 In_Frame_Del TGT 59 CHST15 DEL 10 TGT - 125770784 125770782 Baylor CUBN 8029 hgsc.bcm.edu GRCh37 10 16992051 16992051 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000377833.4:c.5029C>G p.Arg1677Gly p.R1677G ENST00000377833 NM_001081.3 1677 Cgt/Ggt 0 Missense_Mutation G 40 CUBN SNP 10 G C 17032057 17032057 Baylor DUOX1 53905 hgsc.bcm.edu GRCh37 15 45436386 45436386 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000321429.4:c.2089C>G p.Arg697Gly p.R697G ENST00000321429 NM_017434.3 697 Cgt/Ggt 0 Missense_Mutation C 23 DUOX1 SNP 15 C G 43223678 43223678 Baylor F8 2157 hgsc.bcm.edu GRCh37 X 154185254 154185254 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000360256.4:c.1730C>A p.Ser577Tyr p.S577Y ENST00000360256 NM_000132.3 577 tCt/tAt 0 Missense_Mutation G 33 F8 SNP 23 G T 153838448 153838448 Baylor FBXO24 26261 hgsc.bcm.edu GRCh37 7 100190453 100190453 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000427939.2:c.720C>T p.Tyr240= p.Y240= ENST00000427939 NM_012172.4 240 taC/taT 0 Silent C 19 FBXO24 SNP 7 C T 100028389 100028389 Baylor FCRL6 343413 hgsc.bcm.edu GRCh37 1 159779317 159779317 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368106.3:c.730G>A p.Asp244Asn p.D244N ENST00000368106 NM_001004310.2 244 Gat/Aat 0 Missense_Mutation G 45 FCRL6 SNP 1 G A 158045941 158045941 Baylor GABRG1 2565 hgsc.bcm.edu GRCh37 4 46053582 46053582 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295452.4:c.990G>A p.Val330= p.V330= ENST00000295452 NM_173536.3 330 gtG/gtA 0 Silent C 29 GABRG1 SNP 4 C T 45748339 45748339 Baylor GUCY1A3 2982 hgsc.bcm.edu GRCh37 4 156631727 156631727 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000296518.7:c.410G>A p.Gly137Asp p.G137D ENST00000296518 137 gGt/gAt 0 Missense_Mutation G 44 GUCY1A3 SNP 4 G A 156851177 156851177 Baylor HTATSF1 27336 hgsc.bcm.edu GRCh37 X 135592337 135592337 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000535601.1:c.1021C>T p.Gln341Ter p.Q341* ENST00000535601 NM_001163280.1 341 Caa/Taa 0 Nonsense_Mutation C 29 HTATSF1 SNP 23 C T 135420003 135420003 Baylor ITIH5 80760 hgsc.bcm.edu GRCh37 10 7618969 7618969 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000256861.6:c.1425C>G p.Tyr475Ter p.Y475* ENST00000256861 NM_030569.6 475 taC/taG 0 Nonsense_Mutation G 40 ITIH5 SNP 10 G C 7658975 7658975 Baylor KHK 3795 hgsc.bcm.edu GRCh37 2 27319663 27319663 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000260599.6:c.411C>G p.His137Gln p.H137Q ENST00000260599 NM_000221.2 137 caC/caG 0 Missense_Mutation C 17 KHK SNP 2 C G 27173167 27173167 Baylor KIAA2022 340533 hgsc.bcm.edu GRCh37 X 73963172 73963172 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000055682.6:c.1220C>A p.Pro407His p.P407H ENST00000055682 NM_001008537.2 407 cCt/cAt 0 Missense_Mutation G 35 KIAA2022 SNP 23 G T 73879897 73879897 Baylor LAMA1 284217 hgsc.bcm.edu GRCh37 18 6999480 6999480 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000389658.3:c.4627G>T p.Glu1543Ter p.E1543* ENST00000389658 NM_005559.3 1543 Gaa/Taa 0 Nonsense_Mutation C 29 LAMA1 SNP 18 C A 6989480 6989480 Baylor LRP1B 53353 hgsc.bcm.edu GRCh37 2 141777630 141777630 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000389484.3:c.1831A>C p.Asn611His p.N611H ENST00000389484 NM_018557.2 611 Aat/Cat 0 Missense_Mutation T 64 LRP1B SNP 2 T G 141494100 141494100 Baylor MAP2K4 6416 hgsc.bcm.edu GRCh37 17 11984782 11984782 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000353533.5:c.328C>T p.Arg110Ter p.R110* ENST00000353533 NM_003010.3 110 Cga/Tga 0 Nonsense_Mutation C 19 MAP2K4 SNP 17 C T 11925507 11925507 Baylor MSH6 2956 hgsc.bcm.edu GRCh37 2 48033695 48033695 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000234420.5:c.3906A>G p.Ala1302= p.A1302= ENST00000234420 NM_000179.2 1302 gcA/gcG 0 Silent A 7 MSH6 SNP 2 A G 47887199 47887199 Baylor NPAS4 266743 hgsc.bcm.edu GRCh37 11 66191485 66191487 + inframe_deletion In_Frame_Del DEL TCC TCC - novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 TCC TCC . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000311034.2:c.1124_1126del p.Phe375_Pro376delinsSer p.F375_P376delinsS ENST00000311034 NM_178864.3 375 tTCCcc/tcc 0 In_Frame_Del TCC 62 NPAS4 DEL 11 TCC - 65948063 65948061 Baylor OR10H1 26539 hgsc.bcm.edu GRCh37 19 15918177 15918177 + missense_variant Missense_Mutation SNP G G T rs62619246 Unknown TCGA-24-1548-01 TCGA-24-1548-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000334920.2:c.671C>A p.Ala224Asp p.A224D ENST00000334920 NM_013940.2 224 gCc/gAc 0 Missense_Mutation G 42 OR10H1 SNP 19 G T 15779177 15779177 Baylor OR10H1 26539 hgsc.bcm.edu GRCh37 19 15918201 15918201 + missense_variant Missense_Mutation SNP A A G rs61745520 Unknown TCGA-24-1548-01 TCGA-24-1548-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000334920.2:c.647T>C p.Leu216Pro p.L216P ENST00000334920 NM_013940.2 216 cTc/cCc 0 Missense_Mutation A 11 OR10H1 SNP 19 A G 15779201 15779201 Baylor OR13A1 79290 hgsc.bcm.edu GRCh37 10 45799065 45799065 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000553795.1:c.806A>T p.Tyr269Phe p.Y269F ENST00000553795 NM_001004297.2 269 tAt/tTt 0 Missense_Mutation T 49 OR13A1 SNP 10 T A 45119071 45119071 Baylor PABPC3 5042 hgsc.bcm.edu GRCh37 13 25671333 25671333 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000281589.3:c.999delA p.Phe335LeufsTer19 p.F335Lfs*19 ENST00000281589 NM_030979.2 333 Aaa/aa 0 Frame_Shift_Del A 5 PABPC3 DEL 13 A - 24569333 24569333 Baylor PAH 5053 hgsc.bcm.edu GRCh37 12 103237492 103237492 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000553106.1:c.1131C>T p.Tyr377= p.Y377= ENST00000553106 NM_000277.1 377 taC/taT 0 Silent G 48 PAH SNP 12 G A 101761622 101761622 Baylor PPP2R1A 5518 hgsc.bcm.edu GRCh37 19 52716334 52716334 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000322088.6:c.778C>T p.Arg260Cys p.R260C ENST00000322088 NM_014225.5 260 Cgc/Tgc 0 Missense_Mutation C 23 PPP2R1A SNP 19 C T 57408146 57408146 Baylor RGS7 6000 hgsc.bcm.edu GRCh37 1 241262044 241262044 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000366565.1:c.97C>T p.Arg33Trp p.R33W ENST00000366565 NM_002924.4 33 Cgg/Tgg 0 Missense_Mutation G 40 RGS7 SNP 1 G A 239328667 239328667 Baylor RTP1 132112 hgsc.bcm.edu GRCh37 3 186917434 186917434 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000312295.4:c.368T>C p.Val123Ala p.V123A ENST00000312295 NM_153708.2 123 gTg/gCg 0 Missense_Mutation T 59 RTP1 SNP 3 C C 188400128 188400128 Baylor SPHKAP 80309 hgsc.bcm.edu GRCh37 2 228886428 228886428 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000392056.3:c.696C>T p.Asn232= p.N232= ENST00000392056 NM_001142644.1 232 aaC/aaT 0 Silent G 40 SPHKAP SNP 2 G A 228594672 228594672 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 Missense_Mutation T 49 TP53 SNP 17 T C 7518915 7518915 Baylor UBR4 23352 hgsc.bcm.edu GRCh37 1 19454183 19454183 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000375254.3:c.9162A>C p.Val3054= p.V3054= ENST00000375254 NM_020765.2 3054 gtA/gtC 0 Silent T 53 UBR4 SNP 1 T G 19326770 19326770 Baylor USH2A 7399 hgsc.bcm.edu GRCh37 1 215901473 215901473 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000307340.3:c.11965G>A p.Glu3989Lys p.E3989K ENST00000307340 NM_206933.2 3989 Gaa/Aaa 0 Missense_Mutation C 32 USH2A SNP 1 C T 213968096 213968096 Baylor XYLT1 64131 hgsc.bcm.edu GRCh37 16 17252696 17252696 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261381.6:c.1360G>A p.Asp454Asn p.D454N ENST00000261381 NM_022166.3 454 Gac/Aac 0 Missense_Mutation C 30 XYLT1 SNP 16 C T 17160197 17160197 Baylor ZNF45 7596 hgsc.bcm.edu GRCh37 19 44417975 44417975 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269973.5:c.1613G>T p.Ser538Ile p.S538I ENST00000269973 NM_003425.3 538 aGt/aTt 0 Missense_Mutation C 20 ZNF45 SNP 19 C A 49109815 49109815 Baylor ZNF518B 85460 hgsc.bcm.edu GRCh37 4 10446084 10446084 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1548-01 TCGA-24-1548-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000326756.3:c.1869G>C p.Arg623Ser p.R623S ENST00000326756 NM_053042.2 623 agG/agC 0 Missense_Mutation C 30 ZNF518B SNP 4 C G 10055182 10055182 Baylor ZSCAN29 146050 hgsc.bcm.edu GRCh37 15 43653322 43653322 + synonymous_variant Silent SNP G G A rs35278805 Unknown TCGA-24-1548-01 TCGA-24-1548-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000396976.2:c.2508C>T p.His836= p.H836= ENST00000396976 NM_152455.3 836 caC/caT 0 Silent G 40 ZSCAN29 SNP 15 G A 41440614 41440614 Baylor ADAM9 8754 hgsc.bcm.edu GRCh37 8 38928859 38928859 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000487273.2:c.1634C>A p.Ser545Tyr p.S545Y ENST00000487273 NM_003816.2 545 tCt/tAt 0 Missense_Mutation C 32 ADAM9 SNP 8 C A 39048016 39048016 Baylor AOC2 314 hgsc.bcm.edu GRCh37 17 40997689 40997690 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000253799.3:c.1049dup p.Glu351Ter p.E351* ENST00000253799 NM_009590.2 349 cag/caGg 0 Frame_Shift_Ins - 7 AOC2 INS 17 - G 38251216 38251215 Baylor AP1G1 164 hgsc.bcm.edu GRCh37 16 71772879 71772879 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393512.3:c.2243T>C p.Met748Thr p.M748T ENST00000393512 NM_001030007.1 748 aTg/aCg 0 Missense_Mutation A 8 AP1G1 SNP 16 A G 70330380 70330380 Baylor ATP6V1C2 245973 hgsc.bcm.edu GRCh37 2 10904525 10904525 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000272238.4:c.352G>A p.Val118Met p.V118M ENST00000272238 NM_001039362.1 118 Gtg/Atg 0 Missense_Mutation G 40 ATP6V1C2 SNP 2 G A 10821976 10821976 Baylor LDLRAD4 753 hgsc.bcm.edu GRCh37 18 13621197 13621197 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361205.4:c.263A>G p.His88Arg p.H88R ENST00000361205 88 cAc/cGc 0 Missense_Mutation A 6 C18orf1 SNP 18 A G 13611197 13611197 Baylor CLDN11 5010 hgsc.bcm.edu GRCh37 3 170136894 170136894 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000064724.3:c.40A>T p.Ser14Cys p.S14C ENST00000064724 NM_005602.5 14 Agc/Tgc 0 Missense_Mutation A 11 CLDN11 SNP 3 A T 171619588 171619588 Baylor CSRP1 1465 hgsc.bcm.edu GRCh37 1 201459309 201459309 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367306.1:c.276C>G p.His92Gln p.H92Q ENST00000367306 92 caC/caG 0 Missense_Mutation G 40 CSRP1 SNP 1 G C 199725932 199725932 Baylor DUSP19 142679 hgsc.bcm.edu GRCh37 2 183960270 183960270 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000354221.4:c.538G>C p.Val180Leu p.V180L ENST00000354221 NM_080876.3 180 Gtg/Ctg 0 Missense_Mutation G 44 DUSP19 SNP 2 G C 183668515 183668515 Baylor FAM171A1 221061 hgsc.bcm.edu GRCh37 10 15256063 15256063 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000378116.4:c.1524C>T p.Ser508= p.S508= ENST00000378116 NM_001010924.1 508 tcC/tcT 0 Silent G 47 FAM171A1 SNP 10 G A 15296069 15296069 Baylor FBXO31 79791 hgsc.bcm.edu GRCh37 16 87393970 87393970 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000311635.7:c.343T>C p.Tyr115His p.Y115H ENST00000311635 NM_024735.3 115 Tat/Cat 0 Missense_Mutation A 14 FBXO31 SNP 16 A G 85951471 85951471 Baylor GC 2638 hgsc.bcm.edu GRCh37 4 72629165 72629165 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000504199.1:c.718T>A p.Ser240Thr p.S240T ENST00000504199 NM_001204307.1 240 Tca/Aca 0 Missense_Mutation A 11 GC SNP 4 A T 72848029 72848029 Baylor GCC2 9648 hgsc.bcm.edu GRCh37 2 109102154 109102154 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000309863.6:c.3676G>T p.Val1226Leu p.V1226L ENST00000309863 NM_181453.3 1226 Gtg/Ttg 0 Missense_Mutation G 48 GCC2 SNP 2 G T 108468586 108468586 Baylor GCNT2 2651 hgsc.bcm.edu GRCh37 6 10557283 10557283 + intron_variant Intron SNP A A G novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379597.3:c.925+27214A>G *309* ENST00000379597 0 Silent A 3 GCNT2 SNP 6 A G 10665269 10665269 Baylor GOLGA4 2803 hgsc.bcm.edu GRCh37 3 37323463 37323463 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000356847.4:c.243G>T p.Gln81His p.Q81H ENST00000356847 NM_001172713.1 81 caG/caT 0 Missense_Mutation G 36 GOLGA4 SNP 3 G T 37298467 37298467 Baylor HDAC4 9759 hgsc.bcm.edu GRCh37 2 240085532 240085532 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000345617.3:c.578A>C p.His193Pro p.H193P ENST00000345617 NM_006037.3 193 cAc/cCc 0 Missense_Mutation T 59 HDAC4 SNP 2 T G 239750469 239750469 Baylor HS1BP3 64342 hgsc.bcm.edu GRCh37 2 20818991 20818991 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000304031.3:c.935T>A p.Leu312Ter p.L312* ENST00000304031 NM_022460.3 312 tTg/tAg 0 Nonsense_Mutation A 5 HS1BP3 SNP 2 A T 20682472 20682472 Baylor HTR2A 3356 hgsc.bcm.edu GRCh37 13 47409726 47409726 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000378688.4:c.662T>C p.Val221Ala p.V221A ENST00000378688 221 gTc/gCc 0 Missense_Mutation A 10 HTR2A SNP 13 A G 46307727 46307727 Baylor KDM5C 8242 hgsc.bcm.edu GRCh37 X 53246446 53246446 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000375401.3:c.536G>A p.Arg179His p.R179H ENST00000375401 NM_004187.3 179 cGt/cAt 0 Missense_Mutation C 19 KDM5C SNP 23 C T 53263171 53263171 Baylor KHDRBS2 202559 hgsc.bcm.edu GRCh37 6 62995810 62995810 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000281156.4:c.44A>C p.Asp15Ala p.D15A ENST00000281156 NM_152688.2 15 gAt/gCt 0 Missense_Mutation T 50 KHDRBS2 SNP 6 T G 63053769 63053769 Baylor KIF17 57576 hgsc.bcm.edu GRCh37 1 21014310 21014310 + synonymous_variant Silent SNP C C T novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000247986.2:c.1509G>A p.Thr503= p.T503= ENST00000247986 503 acG/acA 0 Silent C 31 KIF17 SNP 1 C T 20886897 20886897 Baylor MAD2L2 10459 hgsc.bcm.edu GRCh37 1 11736164 11736164 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000235310.3:c.366del p.Leu123SerfsTer6 p.L123Sfs*6 ENST00000235310 122 ctG/ct 0 Frame_Shift_Del C 25 MAD2L2 DEL 1 C - 11658751 11658751 Baylor MC2R 4158 hgsc.bcm.edu GRCh37 18 13884979 13884979 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000327606.3:c.539C>T p.Ser180Leu p.S180L ENST00000327606 NM_000529.2 180 tCg/tTg 0 Missense_Mutation G 37 MC2R SNP 18 G A 13874979 13874979 Baylor NPC1L1 29881 hgsc.bcm.edu GRCh37 7 44560365 44560365 + splice_region_variant,synonymous_variant Splice_Region SNP T T C novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000289547.4:c.3135A>G p.Leu1045= p.L1045= ENST00000289547 NM_013389.2 1045 ttA/ttG 0 Silent T 53 NPC1L1 SNP 7 T C 44526890 44526890 Baylor NPHS1 4868 hgsc.bcm.edu GRCh37 19 36333305 36333305 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000378910.5:c.2482C>T p.Arg828Trp p.R828W ENST00000378910 NM_004646.3 828 Cgg/Tgg 0 Missense_Mutation G 40 NPHS1 SNP 19 G A 41025145 41025145 Baylor NR2C2AP 126382 hgsc.bcm.edu GRCh37 19 19313199 19313199 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000331552.7:c.244G>A p.Gly82Ser p.G82S ENST00000331552 NM_176880.4 82 Ggc/Agc 0 Missense_Mutation C 22 NR2C2AP SNP 19 C T 19174199 19174199 Baylor OPTC 26254 hgsc.bcm.edu GRCh37 1 203467841 203467841 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367222.2:c.403G>C p.Gly135Arg p.G135R ENST00000367222 NM_014359.3 135 Ggt/Cgt 0 Missense_Mutation G 39 OPTC SNP 1 G C 201734464 201734464 Baylor PDE4DIP 9659 hgsc.bcm.edu GRCh37 1 144866597 144866597 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000369356.4:c.5645G>C p.Gly1882Ala p.G1882A ENST00000369356 NM_014644.5 1882 gGa/gCa 0 Missense_Mutation C 30 PDE4DIP SNP 1 C G 143577954 143577954 Baylor PLXDC2 84898 hgsc.bcm.edu GRCh37 10 20432305 20432305 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000377252.4:c.623C>T p.Pro208Leu p.P208L ENST00000377252 NM_032812.7 208 cCc/cTc 0 Missense_Mutation C 22 PLXDC2 SNP 10 C T 20472311 20472311 Baylor RALGPS1 9649 hgsc.bcm.edu GRCh37 9 129957370 129957370 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000259351.5:c.911G>T p.Gly304Val p.G304V ENST00000259351 NM_014636.2 304 gGt/gTt 0 Missense_Mutation G 44 RALGPS1 SNP 9 G T 128997191 128997191 Baylor SEC14L3 266629 hgsc.bcm.edu GRCh37 22 30866228 30866228 + synonymous_variant Silent SNP A A G novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000215812.4:c.145T>C p.Leu49= p.L49= ENST00000215812 NM_174975.4 49 Ttg/Ctg 0 Silent A 3 SEC14L3 SNP 22 A G 29196228 29196228 Baylor SMOC2 64094 hgsc.bcm.edu GRCh37 6 169051444 169051444 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000354536.5:c.1024C>A p.Pro342Thr p.P342T ENST00000354536 NM_022138.2 342 Ccc/Acc 0 Missense_Mutation C 22 SMOC2 SNP 6 C A 168793369 168793369 Baylor SMTN 6525 hgsc.bcm.edu GRCh37 22 31487798 31487799 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358743.1:c.1605dupC p.Ser536GlnfsTer2 p.S536Qfs*2 ENST00000358743 NM_134270.2 533 gcc/gCcc 0 Frame_Shift_Ins - 46 SMTN INS 22 - C 29817799 29817798 Baylor STK10 6793 hgsc.bcm.edu GRCh37 5 171491796 171491796 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000176763.5:c.2010G>T p.Lys670Asn p.K670N ENST00000176763 NM_005990.3 670 aaG/aaT 0 Missense_Mutation C 28 STK10 SNP 5 C A 171424401 171424401 Baylor TAS2R42 353164 hgsc.bcm.edu GRCh37 12 11338877 11338877 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000334266.1:c.667G>C p.Asp223His p.D223H ENST00000334266 NM_181429.1 223 Gac/Cac 0 Missense_Mutation C 32 TAS2R42 SNP 12 C G 11230144 11230144 Baylor TIPRL 261726 hgsc.bcm.edu GRCh37 1 168165880 168165880 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367833.2:c.612G>A p.Glu204= p.E204= ENST00000367833 NM_152902.3 204 gaG/gaA 0 Silent G 35 TIPRL SNP 1 G A 166432504 166432504 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C T rs28934576 Unknown TCGA-36-1575-01 TCGA-36-1575-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.818G>A p.Arg273His p.R273H ENST00000269305 NM_001126112.2 273 cGt/cAt 0 Missense_Mutation C 19 TP53 SNP 17 C T 7517845 7517845 Baylor TSPAN15 23555 hgsc.bcm.edu GRCh37 10 71266732 71266732 + stop_lost Nonstop_Mutation SNP T T A novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373290.2:c.883T>A p.Ter295LysextTer15 p.*295Kext*15 ENST00000373290 NM_012339.3 295 Tag/Aag 0 Missense_Mutation T 61 TSPAN15 SNP 10 T A 70936738 70936738 Baylor UNC5CL 222643 hgsc.bcm.edu GRCh37 6 40998183 40998183 + synonymous_variant Silent SNP G G C novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000244565.3:c.1278C>G p.Thr426= p.T426= ENST00000244565 NM_173561.2 426 acC/acG 0 Silent G 39 UNC5CL SNP 6 G C 41106161 41106161 Baylor WNT11 7481 hgsc.bcm.edu GRCh37 11 75898143 75898143 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000322563.3:c.1031G>A p.Cys344Tyr p.C344Y ENST00000322563 NM_004626.2 344 tGt/tAt 0 Missense_Mutation C 17 WNT11 SNP 11 C T 75575791 75575791 Baylor ZNF33A 7581 hgsc.bcm.edu GRCh37 10 38344533 38344533 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1575-01 TCGA-36-1575-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000374618.3:c.1481A>G p.Asp494Gly p.D494G ENST00000374618 NM_001278178.1 494 gAt/gGt 0 Missense_Mutation A 12 ZNF33A SNP 10 A G 38384539 38384539 Baylor PDIK1L 149420 broad.mit.edu GRCh37 1 26448529 26448529 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000374271.4:c.487C>G p.Arg163Gly p.R163G ENST00000374271 NM_001243533.1 163 Cga/Gga 0 Missense_Mutation C 23 PDIK1L SNP 1 C G 26321116 26321116 Broad LRRIQ3 127255 broad.mit.edu GRCh37 1 74507353 74507353 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000354431.4:c.1262G>C p.Ser421Thr p.S421T ENST00000354431 NM_001105659.1 421 aGt/aCt 0 Missense_Mutation C 20 LRRIQ3 SNP 1 C G 74279941 74279941 Broad PDE4DIP 9659 broad.mit.edu GRCh37 1 144952200 144952200 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000369356.4:c.518+1G>A p.X173_splice ENST00000369356 NM_014644.5 0 Splice_Site_SNP C 20 PDE4DIP SNP 1 C T 143663557 143663557 Broad SPTA1 6708 broad.mit.edu GRCh37 1 158613212 158613212 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000368147.4:c.4342G>T p.Gly1448Trp p.G1448W ENST00000368147 NM_003126.2 1448 Ggg/Tgg 0 Missense_Mutation C 24 SPTA1 SNP 1 C A 156879836 156879836 Broad B3GALT2 8707 broad.mit.edu GRCh37 1 193149834 193149834 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000367434.4:c.859G>A p.Ala287Thr p.A287T ENST00000367434 NM_003783.3 287 Gca/Aca 0 Missense_Mutation C 25 B3GALT2 SNP 1 C T 191416457 191416457 Broad PRELP 5549 broad.mit.edu GRCh37 1 203453266 203453266 + synonymous_variant Silent SNP C C T novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000343110.2:c.954C>T p.Leu318= p.L318= ENST00000343110 NM_201348.1 318 ctC/ctT 0 Silent C 29 PRELP SNP 1 C T 201719889 201719889 Broad PNLIP 5406 broad.mit.edu GRCh37 10 118315569 118315569 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000369221.2:c.869G>C p.Ser290Thr p.S290T ENST00000369221 NM_000936.2 290 aGc/aCc 0 Missense_Mutation G 34 PNLIP SNP 10 G C 118305559 118305559 Broad PPAPDC1A 196051 broad.mit.edu GRCh37 10 122334730 122334730 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000398250.1:c.533G>A p.Arg178Gln p.R178Q ENST00000398250 NM_001030059.1 178 cGg/cAg 0 Missense_Mutation G 39 PPAPDC1A SNP 10 G A 122324720 122324720 Broad CYP2E1 1571 broad.mit.edu GRCh37 10 135342013 135342013 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000463117.2:c.206C>G p.Thr69Arg p.T69R ENST00000463117 69 aCg/aGg 0 Missense_Mutation C 19 CYP2E1 SNP 10 C G 135192003 135192003 Broad NUP160 23279 broad.mit.edu GRCh37 11 47814385 47814385 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000378460.2:c.3403A>G p.Ile1135Val p.I1135V ENST00000378460 NM_015231.1 1135 Att/Gtt 0 Missense_Mutation T 49 NUP160 SNP 11 T C 47770961 47770961 Broad OR4C13 283092 broad.mit.edu GRCh37 11 49974083 49974083 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000555099.1:c.109A>G p.Met37Val p.M37V ENST00000555099 NM_001001955.2 37 Atg/Gtg 0 Missense_Mutation A 8 OR4C13 SNP 11 A G 49930659 49930659 Broad GIF 2694 broad.mit.edu GRCh37 11 59612902 59612902 + synonymous_variant Silent SNP G G A novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000257248.2:c.25C>T p.Leu9= p.L9= ENST00000257248 NM_005142.2 9 Ctg/Ttg 0 Silent G 35 GIF SNP 11 G A 59369478 59369478 Broad E2F7 144455 broad.mit.edu GRCh37 12 77423663 77423663 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000322886.7:c.1832A>T p.Lys611Ile p.K611I ENST00000322886 NM_203394.2 611 aAa/aTa 0 Missense_Mutation T 64 E2F7 SNP 12 T A 75947794 75947794 Broad MYL2 4633 broad.mit.edu GRCh37 12 111353546 111353546 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000228841.8:c.142G>T p.Asp48Tyr p.D48Y ENST00000228841 NM_000432.3 48 Gat/Tat 0 Missense_Mutation C 31 MYL2 SNP 12 C A 109837929 109837929 Broad DGKH 160851 broad.mit.edu GRCh37 13 42783575 42783575 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000337343.4:c.2824A>G p.Arg942Gly p.R942G ENST00000337343 NM_178009.3 942 Aga/Gga 0 Missense_Mutation A 7 DGKH SNP 13 A G 41681575 41681575 Broad ADAMTSL3 57188 broad.mit.edu GRCh37 15 84694187 84694187 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000286744.5:c.4655G>A p.Arg1552Gln p.R1552Q ENST00000286744 NM_207517.2 1552 cGg/cAg 0 Missense_Mutation G 39 ADAMTSL3 SNP 15 G A 82485191 82485191 Broad CDK12 51755 broad.mit.edu GRCh37 17 37649051 37649051 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000447079.4:c.2156G>A p.Trp719Ter p.W719* ENST00000447079 NM_015083.1 719 tGg/tAg 0 Nonsense_Mutation G 47 CDK12 SNP 17 G A 34902577 34902577 Broad RAD23A 5886 broad.mit.edu GRCh37 19 13063845 13063845 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000586534.1:c.1074G>C p.Gln358His p.Q358H ENST00000586534 358 caG/caC 0 Missense_Mutation G 33 RAD23A SNP 19 G C 12924845 12924845 Broad ZNF583 147949 broad.mit.edu GRCh37 19 56934806 56934806 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000333201.9:c.779G>A p.Arg260Lys p.R260K ENST00000333201 NM_001159861.1 260 aGa/aAa 0 Missense_Mutation G 33 ZNF583 SNP 19 G A 61626618 61626618 Broad TRIB3 57761 broad.mit.edu GRCh37 20 371976 371976 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000217233.3:c.337C>G p.Arg113Gly p.R113G ENST00000217233 NM_021158.3 113 Cgg/Ggg 0 Missense_Mutation C 27 TRIB3 SNP 20 C G 319976 319976 Broad CRLS1 54675 broad.mit.edu GRCh37 20 6012658 6012658 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000378863.4:c.661C>G p.Arg221Gly p.R221G ENST00000378863 NM_019095.4 221 Cga/Gga 0 Missense_Mutation C 27 CRLS1 SNP 20 C G 5960658 5960658 Broad ZNF445 353274 broad.mit.edu GRCh37 3 44496655 44496655 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000425708.2:c.387G>C p.Leu129Phe p.L129F ENST00000425708 129 ttG/ttC 0 Missense_Mutation C 25 ZNF445 SNP 3 C G 44471659 44471659 Broad COL6A6 131873 broad.mit.edu GRCh37 3 130282256 130282256 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000358511.6:c.409G>C p.Val137Leu p.V137L ENST00000358511 NM_001102608.1 137 Gtc/Ctc 0 Missense_Mutation G 44 COL6A6 SNP 3 G C 131764946 131764946 Broad MME 4311 broad.mit.edu GRCh37 3 154864982 154864982 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000460393.1:c.1466A>G p.Asn489Ser p.N489S ENST00000460393 NM_007287.2 489 aAt/aGt 0 Missense_Mutation A 4 MME SNP 3 A G 156347676 156347676 Broad MB21D2 151963 broad.mit.edu GRCh37 3 192517157 192517157 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000392452.2:c.494G>C p.Cys165Ser p.C165S ENST00000392452 NM_178496.3 165 tGc/tCc 0 Missense_Mutation C 25 C3orf59 SNP 3 C G 193999851 193999851 Broad PPA2 27068 broad.mit.edu GRCh37 4 106374784 106374784 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000341695.5:c.238A>G p.Met80Val p.M80V ENST00000341695 NM_176869.2 80 Atg/Gtg 0 Missense_Mutation T 49 PPA2 SNP 4 T C 106594233 106594233 Broad ADCY2 108 broad.mit.edu GRCh37 5 7414689 7414689 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000338316.4:c.214G>T p.Val72Phe p.V72F ENST00000338316 NM_020546.2 72 Gtt/Ttt 0 Missense_Mutation G 36 ADCY2 SNP 5 G T 7467689 7467689 Broad PCDHB16 57717 broad.mit.edu GRCh37 5 140563996 140563996 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000361016.2:c.1862A>G p.Asn621Ser p.N621S ENST00000361016 NM_020957.1 621 aAt/aGt 0 Missense_Mutation A 4 PCDHB16 SNP 5 A G 140544180 140544180 Broad ZFP57 346171 broad.mit.edu GRCh37 6 29641174 29641174 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000488757.1:c.714G>C p.Lys238Asn p.K238N ENST00000488757 NM_001109809.2 238 aaG/aaC 0 Missense_Mutation C 32 ZFP57 SNP 6 C G 29749153 29749153 Broad LPA 4018 broad.mit.edu GRCh37 6 161015016 161015016 + synonymous_variant Silent SNP C C T novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000447678.1:c.3603G>A p.Gln1201= p.Q1201= ENST00000447678 NM_005577.2 1201 caG/caA 0 Silent C 32 LPA SNP 6 C T 160935006 160935006 Broad WIPI2 26100 broad.mit.edu GRCh37 7 5257579 5257579 + synonymous_variant Silent SNP C C T novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000288828.4:c.603C>T p.His201= p.H201= ENST00000288828 NM_001278299.1 201 caC/caT 0 Silent C 19 WIPI2 SNP 7 C T 5224105 5224105 Broad ABCB8 11194 broad.mit.edu GRCh37 7 150741261 150741261 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000358849.4:c.1969C>A p.Arg657Ser p.R657S ENST00000358849 NM_007188.3 657 Cgt/Agt 0 Missense_Mutation C 23 ABCB8 SNP 7 C A 150372194 150372194 Broad KMT2C 58508 broad.mit.edu GRCh37 7 151879516 151879516 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000262189.6:c.5429T>G p.Leu1810Trp p.L1810W ENST00000262189 NM_170606.2 1810 tTg/tGg 0 Missense_Mutation A 5 MLL3 SNP 7 A C 151510449 151510449 Broad IL11RA 3590 broad.mit.edu GRCh37 9 34657128 34657128 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000555003.1:c.428G>A p.Arg143His p.R143H ENST00000555003 143 cGc/cAc 0 Missense_Mutation G 38 IL11RA SNP 9 G A 34647128 34647128 Broad VGLL1 51442 broad.mit.edu GRCh37 X 135631122 135631122 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000370634.3:c.589G>A p.Gly197Arg p.G197R ENST00000370634 NM_016267.3 197 Gga/Aga 0 Missense_Mutation G 47 VGLL1 SNP 23 G A 135458788 135458788 Broad MTMR1 8776 broad.mit.edu GRCh37 X 149905819 149905819 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown x x x ENST00000544228.1:c.1348T>A p.Ser450Thr p.S450T ENST00000544228 450 Tct/Act 0 Missense_Mutation T 50 MTMR1 SNP 23 T A 149656477 149656477 Broad TP53 7157 broad.mit.edu GRCh37 17 7579362 7579396 + frameshift_variant Frame_Shift_Del DEL AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG - novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.291_325del p.Gln100GlyfsTer37 p.Q100Gfs*37 ENST00000269305 NM_001126112.2 97 gtCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTtc/gttc 0 Frame_Shift_Del AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG 1 TP53 DEL 17 - AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG 7520121 7520087 Broad ALMS1 7840 broad.mit.edu GRCh37 2 73613032 73613037 + inframe_deletion In_Frame_Del DEL GGAGGA GGAGGA - novel Unknown TCGA-31-1953-01 TCGA-31-1953-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000264448.6:c.69_74delGGAGGA p.Glu27_Glu28del p.E27_E28del ENST00000264448 NM_015120.4 12 ctGGAGGAg/ctg 0 In_Frame_Del GGAGGA 47 ALMS1 DEL 2 - GGAGGA 73466545 73466540 Broad KIAA0754 23499 broad.mit.edu GRCh37 1 39879392 39879392 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000530275.1:c.3047C>T p.Thr1016Ile p.T1016I ENST00000530275 NM_015038.1 1016 aCc/aTc 0 Missense_Mutation C 18 KIAA0754 SNP 1 C T 39651979 39651979 Broad OR10T2 128360 broad.mit.edu GRCh37 1 158369202 158369202 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000334438.1:c.55T>C p.Ser19Pro p.S19P ENST00000334438 NM_001004475.1 19 Tcc/Ccc 0 Missense_Mutation A 11 OR10T2 SNP 1 A G 156635826 156635826 Broad F5 2153 broad.mit.edu GRCh37 1 169519083 169519083 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000367797.3:c.1567C>A p.Leu523Ile p.L523I ENST00000367797 NM_000130.4 523 Ctt/Att 0 Missense_Mutation G 36 F5 SNP 1 G T 167785707 167785707 Broad SFMBT2 57713 broad.mit.edu GRCh37 10 7239546 7239546 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000361972.4:c.1662G>A p.Ser554= p.S554= ENST00000361972 NM_001018039.1 554 tcG/tcA 0 Silent C 23 SFMBT2 SNP 10 C T 7279552 7279552 Broad CNNM1 26507 broad.mit.edu GRCh37 10 101147759 101147759 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000356713.4:c.2523G>A p.Pro841= p.P841= ENST00000356713 NM_020348.2 841 ccG/ccA 0 Silent G 40 CNNM1 SNP 10 G A 101137749 101137749 Broad CCDC147 159686 broad.mit.edu GRCh37 10 106121820 106121820 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000369704.3:c.331G>T p.Asp111Tyr p.D111Y ENST00000369704 NM_001008723.1 111 Gac/Tac 0 Missense_Mutation G 45 CCDC147 SNP 10 G T 106111810 106111810 Broad SORCS1 114815 broad.mit.edu GRCh37 10 108923995 108923996 + missense_variant Missense_Mutation DNP GC GC AA novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000344440.6:c.289_290delinsTT p.Ala97Leu p.A97L ENST00000344440 NM_001206571.1 97 GCa/TTa 0 Missense_Mutation GC 46 SORCS1 DNP 10 GC AA 108913986 108913985 Broad OR52E2 119678 broad.mit.edu GRCh37 11 5080594 5080594 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000321522.2:c.264G>A p.Trp88Ter p.W88* ENST00000321522 NM_001005164.2 88 tgG/tgA 0 Nonsense_Mutation C 30 OR52E2 SNP 11 C T 5037170 5037170 Broad OR8K5 219453 broad.mit.edu GRCh37 11 55927008 55927008 + synonymous_variant Silent SNP G G T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000313447.1:c.786C>A p.Pro262= p.P262= ENST00000313447 NM_001004058.2 262 ccC/ccA 0 Silent G 47 OR8K5 SNP 11 G T 55683584 55683584 Broad OR9Q2 219957 broad.mit.edu GRCh37 11 57958120 57958120 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000311591.3:c.158G>A p.Arg53His p.R53H ENST00000311591 NM_001005283.2 53 cGt/cAt 0 Missense_Mutation G 40 OR9Q2 SNP 11 G A 57714696 57714696 Broad PYGM 5837 broad.mit.edu GRCh37 11 64514214 64514214 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000164139.3:c.2446C>G p.Arg816Gly p.R816G ENST00000164139 NM_005609.2 816 Cgc/Ggc 0 Missense_Mutation G 39 PYGM SNP 11 G C 64270790 64270790 Broad ANKRD13D 338692 broad.mit.edu GRCh37 11 67068552 67068552 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000511455.2:c.1165G>A p.Ala389Thr p.A389T ENST00000511455 NM_207354.2 389 Gct/Act 0 Missense_Mutation G 38 ANKRD13D SNP 11 G A 66825128 66825128 Broad ANKK1 255239 broad.mit.edu GRCh37 11 113270728 113270728 + synonymous_variant Silent SNP A A T rs10615370 Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000303941.3:c.2037A>T p.Leu679= p.L679= ENST00000303941 NM_178510.1 679 ctA/ctT 0 Silent A 15 ANKK1 SNP 11 A T 112775938 112775938 Broad NLRX1 79671 broad.mit.edu GRCh37 11 119052877 119052877 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000409109.1:c.2429C>T p.Thr810Met p.T810M ENST00000409109 NM_001282144.1 810 aCg/aTg 0 Missense_Mutation C 19 NLRX1 SNP 11 C T 118558087 118558087 Broad YBX3 8531 broad.mit.edu GRCh37 12 10865817 10865817 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000228251.4:c.566C>A p.Pro189His p.P189H ENST00000228251 NM_003651.4 189 cCc/cAc 0 Missense_Mutation G 43 CSDA SNP 12 G T 10757084 10757084 Broad KIF5A 3798 broad.mit.edu GRCh37 12 57962813 57962813 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000455537.2:c.782C>T p.Ala261Val p.A261V ENST00000455537 NM_004984.2 261 gCt/gTt 0 Missense_Mutation C 28 KIF5A SNP 12 C T 56249080 56249080 Broad TCP11L2 255394 broad.mit.edu GRCh37 12 106715293 106715293 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000299045.3:c.444C>T p.Gly148= p.G148= ENST00000299045 NM_152772.1 148 ggC/ggT 0 Silent C 25 TCP11L2 SNP 12 C T 105239423 105239423 Broad TBX5 6910 broad.mit.edu GRCh37 12 114793544 114793544 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000310346.4:c.1350G>A p.Leu450= p.L450= ENST00000310346 NM_000192.3 450 ctG/ctA 0 Silent C 21 TBX5 SNP 12 C T 113277927 113277927 Broad KNTC1 9735 broad.mit.edu GRCh37 12 123042002 123042002 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000333479.7:c.1344G>C p.Gln448His p.Q448H ENST00000333479 NM_014708.4 448 caG/caC 0 Missense_Mutation G 33 KNTC1 SNP 12 G C 121607955 121607955 Broad DNAH10 196385 broad.mit.edu GRCh37 12 124332509 124332509 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000409039.3:c.5462C>T p.Ala1821Val p.A1821V ENST00000409039 NM_207437.3 1821 gCg/gTg 0 Missense_Mutation C 27 DNAH10 SNP 12 C T 122898462 122898462 Broad UBC 7316 broad.mit.edu GRCh37 12 125397696 125397696 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000536769.1:c.622C>G p.Leu208Val p.L208V ENST00000536769 208 Ctg/Gtg 0 Missense_Mutation G 35 UBC SNP 12 G C 123963649 123963649 Broad PARP4 143 broad.mit.edu GRCh37 13 25021310 25021310 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000381989.3:c.3129G>A p.Met1043Ile p.M1043I ENST00000381989 NM_006437.3 1043 atG/atA 0 Missense_Mutation C 29 PARP4 SNP 13 C T 23919310 23919310 Broad NBEA 26960 broad.mit.edu GRCh37 13 35622725 35622725 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000400445.3:c.749A>C p.Lys250Thr p.K250T ENST00000400445 NM_015678.4 250 aAg/aCg 0 Missense_Mutation A 3 NBEA SNP 13 A C 34520725 34520725 Broad AKAP6 9472 broad.mit.edu GRCh37 14 33291577 33291577 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000280979.4:c.4558C>A p.Pro1520Thr p.P1520T ENST00000280979 NM_004274.4 1520 Cca/Aca 0 Missense_Mutation C 18 AKAP6 SNP 14 C A 32361328 32361328 Broad GPHB5 122876 broad.mit.edu GRCh37 14 63784523 63784523 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000539258.1:n.98T>C *33* ENST00000539258 0 Missense_Mutation A 11 GPHB5 SNP 14 A G 62854276 62854276 Broad SPTB 6710 broad.mit.edu GRCh37 14 65263340 65263340 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000389722.3:c.1276C>A p.Arg426Ser p.R426S ENST00000389722 NM_001024858.2 426 Cgc/Agc 0 Missense_Mutation G 38 SPTB SNP 14 G T 64333093 64333093 Broad MYO5C 55930 broad.mit.edu GRCh37 15 52537584 52537584 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000261839.7:c.2145G>T p.Glu715Asp p.E715D ENST00000261839 NM_018728.3 715 gaG/gaT 0 Missense_Mutation C 24 MYO5C SNP 15 C A 50324876 50324876 Broad SCAPER 49855 broad.mit.edu GRCh37 15 76668633 76668633 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000563290.1:c.3725G>C p.Gly1242Ala p.G1242A ENST00000563290 1242 gGc/gCc 0 Missense_Mutation C 26 SCAPER SNP 15 C G 74455688 74455688 Broad ADAMTSL3 57188 broad.mit.edu GRCh37 15 84592772 84592772 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000286744.5:c.2104C>A p.Pro702Thr p.P702T ENST00000286744 NM_207517.2 702 Ccc/Acc 0 Missense_Mutation C 26 ADAMTSL3 SNP 15 C A 82383776 82383776 Broad ROGDI 79641 broad.mit.edu GRCh37 16 4851545 4851545 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000322048.7:c.159G>A p.Glu53= p.E53= ENST00000322048 NM_024589.2 53 gaG/gaA 0 Silent C 24 ROGDI SNP 16 C T 4791546 4791546 Broad NOMO1 23420 broad.mit.edu GRCh37 16 14980653 14980653 + synonymous_variant Silent SNP A A C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000287667.7:c.3258A>C p.Pro1086= p.P1086= ENST00000287667 NM_014287.3 1086 ccA/ccC 0 Silent A 5 NOMO1 SNP 16 A C 14888154 14888154 Broad ANKRD11 29123 broad.mit.edu GRCh37 16 89383355 89383355 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000301030.4:c.73C>G p.Gln25Glu p.Q25E ENST00000301030 NM_001256183.1 25 Cag/Gag 0 Missense_Mutation G 46 ANKRD11 SNP 16 G C 87910856 87910856 Broad TP53 7157 broad.mit.edu GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 Missense_Mutation T 49 TP53 SNP 17 T C 7518915 7518915 Broad NF1 4763 broad.mit.edu GRCh37 17 29664598 29664598 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000358273.4:c.6640G>T p.Glu2214Ter p.E2214* ENST00000358273 NM_001042492.2 2214 Gag/Tag 0 Nonsense_Mutation G 41 NF1 SNP 17 G T 26688724 26688724 Broad RASL10B 91608 broad.mit.edu GRCh37 17 34068234 34068235 + missense_variant Missense_Mutation DNP CA CA GC novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000268864.3:c.522_523delinsGC p.Lys175Gln p.K175Q ENST00000268864 NM_033315.3 174 ctCAag/ctGCag 0 Missense_Mutation CA 29 RASL10B DNP 17 CA GC 31092348 31092347 Broad THEG 51298 broad.mit.edu GRCh37 19 362215 362215 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000342640.4:c.1125C>T p.Pro375= p.P375= ENST00000342640 NM_016585.4 375 ccC/ccT 0 Silent G 47 THEG SNP 19 G A 313215 313215 Broad DENND1C 79958 broad.mit.edu GRCh37 19 6467619 6467619 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000381480.2:c.2302C>T p.Pro768Ser p.P768S ENST00000381480 NM_024898.2 768 Cca/Tca 0 Missense_Mutation G 44 DENND1C SNP 19 G A 6418619 6418619 Broad EMR3 84658 broad.mit.edu GRCh37 19 14754967 14754967 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000253673.5:c.1003T>A p.Cys335Ser p.C335S ENST00000253673 NM_032571.3 335 Tgc/Agc 0 Missense_Mutation A 5 EMR3 SNP 19 A T 14615967 14615967 Broad LRFN1 57622 broad.mit.edu GRCh37 19 39804672 39804672 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000248668.4:c.1305G>A p.Ser435= p.S435= ENST00000248668 NM_020862.1 435 tcG/tcA 0 Silent C 31 LRFN1 SNP 19 C T 44496512 44496512 Broad LYPD4 147719 broad.mit.edu GRCh37 19 42341283 42341283 + synonymous_variant Silent SNP T T G novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000330743.3:c.675A>C p.Ala225= p.A225= ENST00000330743 NM_173506.4 225 gcA/gcC 0 Silent T 55 LYPD4 SNP 19 T G 47033123 47033123 Broad CD3EAP 10849 broad.mit.edu GRCh37 19 45910426 45910426 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000309424.3:c.97G>A p.Glu33Lys p.E33K ENST00000309424 NM_012099.1 33 Gag/Aag 0 Missense_Mutation G 41 CD3EAP SNP 19 G A 50602266 50602266 Broad GPR4 2828 broad.mit.edu GRCh37 19 46094179 46094179 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000323040.4:c.946A>G p.Met316Val p.M316V ENST00000323040 NM_005282.2 316 Atg/Gtg 0 Missense_Mutation T 50 GPR4 SNP 19 T C 50786019 50786019 Broad DHX34 9704 broad.mit.edu GRCh37 19 47870294 47870294 + synonymous_variant Silent SNP A A C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000328771.4:c.1650A>C p.Pro550= p.P550= ENST00000328771 NM_014681.5 550 ccA/ccC 0 Silent A 6 DHX34 SNP 19 A C 52562129 52562129 Broad LILRB3 11025 broad.mit.edu GRCh37 19 54724540 54724540 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000245620.9:c.1116C>T p.Tyr372= p.Y372= ENST00000245620 372 taC/taT 0 Silent G 40 LILRB3 SNP 19 G A 59416352 59416352 Broad LILRB1 10859 broad.mit.edu GRCh37 19 55144601 55144601 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000324602.7:c.1093G>A p.Asp365Asn p.D365N ENST00000324602 NM_001278399.1 365 Gac/Aac 0 Missense_Mutation G 45 LILRB1 SNP 19 G A 59836413 59836413 Broad ISOC2 79763 broad.mit.edu GRCh37 19 55966409 55966409 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000085068.3:c.532G>A p.Glu178Lys p.E178K ENST00000085068 NM_001136201.1 178 Gaa/Aaa 0 Missense_Mutation C 31 ISOC2 SNP 19 C T 60658221 60658221 Broad SLC35F6 54978 broad.mit.edu GRCh37 2 27001033 27001033 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000344420.5:c.770G>T p.Gly257Val p.G257V ENST00000344420 NM_017877.3 257 gGc/gTc 0 Missense_Mutation G 42 C2orf18 SNP 2 G T 26854537 26854537 Broad NPAS2 4862 broad.mit.edu GRCh37 2 101564740 101564740 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000335681.5:c.407A>G p.Gln136Arg p.Q136R ENST00000335681 NM_002518.3 136 cAa/cGa 0 Missense_Mutation A 5 NPAS2 SNP 2 A G 100931172 100931172 Broad IL1RL2 8808 broad.mit.edu GRCh37 2 102851677 102851677 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000264257.2:c.1618A>T p.Arg540Trp p.R540W ENST00000264257 NM_003854.2 540 Agg/Tgg 0 Missense_Mutation A 3 IL1RL2 SNP 2 A T 102218109 102218109 Broad COL3A1 1281 broad.mit.edu GRCh37 2 189854859 189854859 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000304636.3:c.728G>A p.Gly243Glu p.G243E ENST00000304636 NM_000090.3 243 gGa/gAa 0 Missense_Mutation G 41 COL3A1 SNP 2 G A 189563104 189563104 Broad PLCL1 5334 broad.mit.edu GRCh37 2 198950032 198950032 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000428675.1:c.1791C>T p.Tyr597= p.Y597= ENST00000428675 NM_006226.3 597 taC/taT 0 Silent C 17 PLCL1 SNP 2 C T 198658277 198658277 Broad SPATS2L 26010 broad.mit.edu GRCh37 2 201342609 201342609 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000358677.5:c.1532G>C p.Arg511Thr p.R511T ENST00000358677 NM_015535.2 511 aGg/aCg 0 Missense_Mutation G 35 LOC26010 SNP 2 G C 201050854 201050854 Broad MAP2 4133 broad.mit.edu GRCh37 2 210570348 210570348 + synonymous_variant Silent SNP A A G novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000360351.4:c.4629A>G p.Arg1543= p.R1543= ENST00000360351 NM_002374.3 1543 agA/agG 0 Silent A 10 MAP2 SNP 2 A G 210278593 210278593 Broad SRXN1 140809 broad.mit.edu GRCh37 20 633635 633635 + synonymous_variant Silent SNP G G C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000381962.3:c.195C>G p.Leu65= p.L65= ENST00000381962 NM_080725.2 65 ctC/ctG 0 Silent G 37 SRXN1 SNP 20 G C 581635 581635 Broad PCED1A 64773 broad.mit.edu GRCh37 20 2819340 2819340 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000360652.2:c.496G>A p.Val166Met p.V166M ENST00000360652 NM_022760.4 166 Gtg/Atg 0 Missense_Mutation C 17 FAM113A SNP 20 C T 2767340 2767340 Broad CDH22 64405 broad.mit.edu GRCh37 20 44815302 44815302 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000372262.3:c.1588G>T p.Gly530Cys p.G530C ENST00000372262 530 Ggc/Tgc 0 Missense_Mutation C 24 CDH22 SNP 20 C A 44248709 44248709 Broad CLTCL1 8218 broad.mit.edu GRCh37 22 19196458 19196458 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000263200.10:c.3416A>T p.Glu1139Val p.E1139V ENST00000263200 NM_007098.3 1139 gAa/gTa 0 Missense_Mutation T 62 CLTCL1 SNP 22 T A 17576458 17576458 Broad TYMP 1890 broad.mit.edu GRCh37 22 50966138 50966138 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000395681.1:c.525G>A p.Val175= p.V175= ENST00000395681 175 gtG/gtA 0 Silent C 25 TYMP SNP 22 C T 49313004 49313004 Broad PLCL2 23228 broad.mit.edu GRCh37 3 17051283 17051283 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000418129.2:c.67C>A p.Leu23Ile p.L23I ENST00000418129 NM_001144382.1 23 Ctc/Atc 0 Missense_Mutation C 20 PLCL2 SNP 3 C A 17026287 17026287 Broad ENTPD3 956 broad.mit.edu GRCh37 3 40457427 40457427 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000301825.3:c.694G>T p.Gly232Ter p.G232* ENST00000301825 NM_001248.2 232 Gga/Tga 0 Nonsense_Mutation G 35 ENTPD3 SNP 3 G T 40432431 40432431 Broad RNF123 63891 broad.mit.edu GRCh37 3 49751566 49751566 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000327697.6:c.2969T>A p.Leu990Gln p.L990Q ENST00000327697 NM_022064.3 990 cTg/cAg 0 Missense_Mutation T 55 RNF123 SNP 3 T A 49726570 49726570 Broad MAATS1 89876 broad.mit.edu GRCh37 3 119466107 119466107 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000273390.5:c.2048G>A p.Ser683Asn p.S683N ENST00000273390 NM_033364.3 683 aGc/aAc 0 Missense_Mutation G 34 C3orf15 SNP 3 G A 120948797 120948797 Broad EPHB1 2047 broad.mit.edu GRCh37 3 134920468 134920468 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000398015.3:c.2283C>T p.Ser761= p.S761= ENST00000398015 NM_004441.4 761 tcC/tcT 0 Silent C 23 EPHB1 SNP 3 C T 136403158 136403158 Broad PLOD2 5352 broad.mit.edu GRCh37 3 145841965 145841965 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000282903.5:c.161G>A p.Arg54Gln p.R54Q ENST00000282903 NM_182943.2 54 cGa/cAa 0 Missense_Mutation C 31 PLOD2 SNP 3 C T 147324655 147324655 Broad LRRC66 339977 broad.mit.edu GRCh37 4 52860770 52860770 + synonymous_variant Silent SNP G G C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000343457.3:c.2418C>G p.Pro806= p.P806= ENST00000343457 NM_001024611.1 806 ccC/ccG 0 Silent G 47 LRRC66 SNP 4 G C 52555527 52555527 Broad ODAM 54959 broad.mit.edu GRCh37 4 71062430 71062430 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000396094.2:c.73T>A p.Ser25Thr p.S25T ENST00000396094 NM_017855.3 25 Tct/Act 0 Missense_Mutation T 58 ODAM SNP 4 T A 71097019 71097019 Broad FRAS1 80144 broad.mit.edu GRCh37 4 79418058 79418059 + missense_variant Missense_Mutation DNP GG GG TT novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000264895.6:c.9058_9059delinsTT p.Gly3020Leu p.G3020L ENST00000264895 NM_025074.6 3020 GGa/TTa 0 Missense_Mutation GG 47 FRAS1 DNP 4 GG TT 79637083 79637082 Broad HNRNPDL 9987 broad.mit.edu GRCh37 4 83349269 83349269 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000295470.5:c.676T>G p.Leu226Val p.L226V ENST00000295470 NM_001207000.1 226 Tta/Gta 0 Missense_Mutation A 1 HNRPDL SNP 4 A C 83568293 83568293 Broad TACR3 6870 broad.mit.edu GRCh37 4 104510899 104510899 + synonymous_variant Silent SNP A A T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000304883.2:c.1338T>A p.Ser446= p.S446= ENST00000304883 NM_001059.2 446 tcT/tcA 0 Silent A 7 TACR3 SNP 4 A T 104730348 104730348 Broad ANK2 287 broad.mit.edu GRCh37 4 114294463 114294463 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000357077.4:c.11717G>A p.Arg3906Gln p.R3906Q ENST00000357077 NM_001148.4 3906 cGg/cAg 0 Missense_Mutation G 39 ANK2 SNP 4 G A 114513912 114513912 Broad SCLT1 132320 broad.mit.edu GRCh37 4 129869664 129869664 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000281142.5:c.1280A>T p.Glu427Val p.E427V ENST00000281142 NM_144643.2 427 gAa/gTa 0 Missense_Mutation T 62 SCLT1 SNP 4 T A 130089114 130089114 Broad SNX25 83891 broad.mit.edu GRCh37 4 186263210 186263210 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000504273.1:c.1635G>C p.Lys545Asn p.K545N ENST00000504273 545 aaG/aaC 0 Missense_Mutation G 33 SNX25 SNP 4 G C 186500204 186500204 Broad CAST 831 broad.mit.edu GRCh37 5 96079350 96079350 + intron_variant Intron SNP C C G novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000395812.2:c.1077+890C>G *359* ENST00000395812 NM_001042440.2 0 Missense_Mutation C 31 CAST SNP 5 C G 96105106 96105106 Broad RAD50 10111 broad.mit.edu GRCh37 5 131976488 131976488 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000265335.6:c.3743C>G p.Ala1248Gly p.A1248G ENST00000265335 1248 gCt/gGt 0 Missense_Mutation C 28 RAD50 SNP 5 C G 132004387 132004387 Broad HIST1H3I 8354 broad.mit.edu GRCh37 6 27839796 27839796 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000328488.2:c.298T>C p.Tyr100His p.Y100H ENST00000328488 NM_003533.2 100 Tac/Cac 0 Missense_Mutation A 15 HIST1H3I SNP 6 A G 27947775 27947775 Broad OR14J1 442191 broad.mit.edu GRCh37 6 29274985 29274985 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000377160.2:c.519C>A p.His173Gln p.H173Q ENST00000377160 NM_030946.1 173 caC/caA 0 Missense_Mutation C 18 OR14J1 SNP 6 C A 29382964 29382964 Broad CMTR1 23070 broad.mit.edu GRCh37 6 37418056 37418056 + synonymous_variant Silent SNP T T C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000373451.4:c.474T>C p.Phe158= p.F158= ENST00000373451 NM_015050.2 158 ttT/ttC 0 Silent T 62 FTSJD2 SNP 6 T C 37526034 37526034 Broad MICAL1 64780 broad.mit.edu GRCh37 6 109768420 109768420 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000358807.3:c.2083G>A p.Asp695Asn p.D695N ENST00000358807 NM_022765.3 695 Gac/Aac 0 Missense_Mutation C 30 MICAL1 SNP 6 C T 109875113 109875113 Broad SYNE1 23345 broad.mit.edu GRCh37 6 152554927 152554927 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000367255.5:c.20701A>G p.Lys6901Glu p.K6901E ENST00000367255 NM_182961.3 6901 Aag/Gag 0 Missense_Mutation T 62 SYNE1 SNP 6 T C 152596620 152596620 Broad SYNE1 23345 broad.mit.edu GRCh37 6 152651696 152651696 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000367255.5:c.14124G>T p.Glu4708Asp p.E4708D ENST00000367255 NM_182961.3 4708 gaG/gaT 0 Missense_Mutation C 24 SYNE1 SNP 6 C A 152693389 152693389 Broad QKI 9444 broad.mit.edu GRCh37 6 163984627 163984627 + synonymous_variant Silent SNP A A T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000361752.3:c.810A>T p.Pro270= p.P270= ENST00000361752 NM_006775.2 270 ccA/ccT 0 Silent A 5 QKI SNP 6 A T 163904617 163904617 Broad CSMD3 114788 broad.mit.edu GRCh37 8 113326789 113326789 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000297405.5:c.7418G>A p.Gly2473Glu p.G2473E ENST00000297405 NM_198123.1 2473 gGa/gAa 0 Missense_Mutation C 30 CSMD3 SNP 8 C T 113395965 113395965 Broad TRPS1 7227 broad.mit.edu GRCh37 8 116430677 116430677 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000395715.3:c.2704C>T p.Arg902Cys p.R902C ENST00000395715 NM_014112.2 902 Cgt/Tgt 0 Missense_Mutation G 38 TRPS1 SNP 8 G A 116499853 116499853 Broad PLEC 5339 broad.mit.edu GRCh37 8 144995639 144995639 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000322810.4:c.8761C>G p.Gln2921Glu p.Q2921E ENST00000322810 NM_201380.2 2921 Cag/Gag 0 Missense_Mutation G 47 PLEC SNP 8 G C 145067627 145067627 Broad PRKACG 5568 broad.mit.edu GRCh37 9 71628252 71628252 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000377276.2:c.757T>C p.Ser253Pro p.S253P ENST00000377276 NM_002732.3 253 Tct/Cct 0 Missense_Mutation A 11 PRKACG SNP 9 A G 70818072 70818072 Broad MAGEB2 4113 broad.mit.edu GRCh37 X 30236764 30236764 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2363-01 TCGA-59-2363-10 Unknown Unknown Unknown x x x ENST00000378988.4:c.67C>T p.Arg23Trp p.R23W ENST00000378988 NM_002364.4 23 Cgg/Tgg 0 Missense_Mutation C 23 MAGEB2 SNP 23 C T 30146685 30146685 Broad ALPK2 115701 hgsc.bcm.edu GRCh37 18 56246466 56246466 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361673.3:c.1542G>A p.Thr514= p.T514= ENST00000361673 NM_052947.3 514 acG/acA 0 Silent C 23 ALPK2 SNP 18 C T 54397446 54397446 Baylor ARFGEF2 10564 hgsc.bcm.edu GRCh37 20 47605044 47605044 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371917.4:c.2378C>G p.Thr793Arg p.T793R ENST00000371917 NM_006420.2 793 aCg/aGg 0 Missense_Mutation C 19 ARFGEF2 SNP 20 C G 47038451 47038451 Baylor ARL2 402 hgsc.bcm.edu GRCh37 11 64786128 64786128 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000246747.4:c.262A>G p.Ile88Val p.I88V ENST00000246747 NM_001667.3 88 Atc/Gtc 0 Missense_Mutation A 8 ARL2 SNP 11 A G 64542704 64542704 Baylor ATAD3B 83858 hgsc.bcm.edu GRCh37 1 1424626 1424626 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000308647.7:c.1309C>A p.Leu437Met p.L437M ENST00000308647 NM_031921.4 437 Ctg/Atg 0 Missense_Mutation C 24 ATAD3B SNP 1 C A 1414489 1414489 Baylor ABHD16A 7920 hgsc.bcm.edu GRCh37 6 31669881 31669881 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395952.3:c.159G>A p.Leu53= p.L53= ENST00000395952 NM_021160.2 53 ctG/ctA 0 Silent C 21 BAT5 SNP 6 C T 31777860 31777860 Baylor BCL11A 53335 hgsc.bcm.edu GRCh37 2 60689485 60689485 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000335712.6:c.562C>T p.His188Tyr p.H188Y ENST00000335712 NM_022893.3 188 Cac/Tac 0 Missense_Mutation G 48 BCL11A SNP 2 G A 60542989 60542989 Baylor C19orf18 147685 hgsc.bcm.edu GRCh37 19 58470047 58470047 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000314391.3:c.571C>G p.Leu191Val p.L191V ENST00000314391 NM_152474.4 191 Ctg/Gtg 0 Missense_Mutation G 36 C19orf18 SNP 19 G C 63161859 63161859 Baylor C19orf47 126526 hgsc.bcm.edu GRCh37 19 40842028 40842028 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000582783.1:c.322G>A p.Val108Met p.V108M ENST00000582783 NM_001256440.1 108 Gtg/Atg 0 Missense_Mutation C 18 C19orf47 SNP 19 C T 45533868 45533868 Baylor C2orf71 388939 hgsc.bcm.edu GRCh37 2 29287926 29287927 + inframe_insertion In_Frame_Ins INS - - GCT novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000331664.5:c.3673_3675dupAGC p.Ser1225dup p.S1225dup ENST00000331664 NM_001029883.2 1225 -/AGC 0 In_Frame_Ins - 31 C2orf71 INS 2 - GCT 29141431 29141430 Baylor FAXC 84553 hgsc.bcm.edu GRCh37 6 99739653 99739653 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000389677.5:c.867C>T p.Asp289= p.D289= ENST00000389677 NM_032511.2 289 gaC/gaT 0 Silent G 40 C6orf168 SNP 6 G A 99846374 99846374 Baylor CDC73 79577 hgsc.bcm.edu GRCh37 1 193181559 193181559 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367435.3:c.1106C>A p.Thr369Asn p.T369N ENST00000367435 NM_024529.4 369 aCc/aAc 0 Missense_Mutation C 18 CDC73 SNP 1 C A 191448182 191448182 Baylor CHST15 51363 hgsc.bcm.edu GRCh37 10 125798162 125798162 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000346248.5:c.1059G>A p.Trp353Ter p.W353* ENST00000346248 NM_015892.4 353 tgG/tgA 0 Nonsense_Mutation C 22 CHST15 SNP 10 C T 125788152 125788152 Baylor DOK2 9046 hgsc.bcm.edu GRCh37 8 21767059 21767060 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000276420.4:c.1001_1002insT p.Glu334AspfsTer9 p.E334Dfs*9 ENST00000276420 NM_003974.2 334 gag/gaTg 0 Frame_Shift_Ins - 24 DOK2 INS 8 - A 21823006 21823005 Baylor EPHA6 285220 hgsc.bcm.edu GRCh37 3 96706268 96706268 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000389672.5:c.545G>C p.Arg182Pro p.R182P ENST00000389672 NM_001080448.2 182 cGt/cCt 0 Missense_Mutation G 40 EPHA6 SNP 3 G C 98188958 98188958 Baylor ERBB2 2064 hgsc.bcm.edu GRCh37 17 37881617 37881617 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269571.5:c.2687G>A p.Arg896His p.R896H ENST00000269571 896 cGc/cAc 0 Missense_Mutation G 38 ERBB2 SNP 17 G A 35135143 35135143 Baylor FADS2 9415 hgsc.bcm.edu GRCh37 11 61596023 61596024 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000278840.4:c.167dupG p.Gln57ProfsTer22 p.Q57Pfs*22 ENST00000278840 NM_004265.3 54 ccg/ccGg 0 Frame_Shift_Ins - 23 FADS2 INS 11 - G 61352600 61352599 Baylor GTF2IRD1 9569 hgsc.bcm.edu GRCh37 7 74005218 74005218 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000455841.2:c.2559C>T p.Asp853= p.D853= ENST00000455841 NM_001199207.1 853 gaC/gaT 0 Silent C 19 GTF2IRD1 SNP 7 C T 73643154 73643154 Baylor IMPG2 50939 hgsc.bcm.edu GRCh37 3 100964726 100964726 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000193391.7:c.1463C>G p.Ser488Cys p.S488C ENST00000193391 NM_016247.3 488 tCt/tGt 0 Missense_Mutation G 33 IMPG2 SNP 3 G C 102447416 102447416 Baylor KCTD8 386617 hgsc.bcm.edu GRCh37 4 44177010 44177010 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360029.3:c.1219C>T p.Arg407Cys p.R407C ENST00000360029 NM_198353.2 407 Cgc/Tgc 0 Missense_Mutation G 40 KCTD8 SNP 4 G A 43871767 43871767 Baylor KL 9365 hgsc.bcm.edu GRCh37 13 33638043 33638043 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380099.3:c.2759G>A p.Arg920His p.R920H ENST00000380099 NM_004795.3 920 cGc/cAc 0 Missense_Mutation G 38 KL SNP 13 G A 32536043 32536043 Baylor KRTAP19-4 337971 hgsc.bcm.edu GRCh37 21 31869398 31869398 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000334058.2:c.31C>A p.Leu11Met p.L11M ENST00000334058 NM_181610.1 11 Ctg/Atg 0 Missense_Mutation G 35 KRTAP19-4 SNP 21 G T 30791269 30791269 Baylor MYO7B 4648 hgsc.bcm.edu GRCh37 2 128384572 128384572 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000428314.1:c.4160T>G p.Val1387Gly p.V1387G ENST00000428314 NM_001080527.1 1387 gTc/gGc 0 Missense_Mutation T 58 MYO7B SNP 2 T G 128101042 128101042 Baylor MYT1L 23040 hgsc.bcm.edu GRCh37 2 1891311 1891311 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000428368.2:c.2585G>T p.Ser862Ile p.S862I ENST00000428368 862 aGt/aTt 0 Missense_Mutation C 20 MYT1L SNP 2 C A 1870318 1870318 Baylor NBPF1 55672 hgsc.bcm.edu GRCh37 1 16891363 16891365 + inframe_deletion In_Frame_Del DEL TCG TCG - novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 TCG TCG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000430580.2:c.3113_3115del p.Thr1038del p.T1038del ENST00000430580 NM_017940.4 1038 aCGAag/aag 0 In_Frame_Del TCG 62 NBPF1 DEL 1 TCG - 16763952 16763950 Baylor NBPF12 149013 hgsc.bcm.edu GRCh37 1 146462752 146462752 + missense_variant Missense_Mutation SNP C C A rs5015286 Unknown TCGA-04-1364-01 TCGA-04-1364-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000442909.2:c.9340C>A p.Pro3114Thr p.P3114T ENST00000442909 3114 Cct/Act 0 Missense_Mutation C 26 NBPF12 SNP 1 C A 144929375 144929375 Baylor NR4A2 4929 hgsc.bcm.edu GRCh37 2 157186373 157186374 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000339562.4:c.325dupC p.Gln109ProfsTer3 p.Q109Pfs*3 ENST00000339562 NM_006186.3 109 cag/cCag 0 Frame_Shift_Ins - 55 NR4A2 INS 2 - G 156894620 156894619 Baylor PDE12 201626 hgsc.bcm.edu GRCh37 3 57542932 57542932 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311180.8:c.826A>T p.Thr276Ser p.T276S ENST00000311180 NM_177966.5 276 Acc/Tcc 0 Missense_Mutation A 6 PDE12 SNP 3 A T 57517972 57517972 Baylor PGAP1 80055 hgsc.bcm.edu GRCh37 2 197737199 197737199 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354764.4:c.1694T>G p.Phe565Cys p.F565C ENST00000354764 NM_024989.3 565 tTt/tGt 0 Missense_Mutation A 1 PGAP1 SNP 2 A C 197445444 197445444 Baylor RGS9 8787 hgsc.bcm.edu GRCh37 17 63221256 63221256 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262406.9:c.1544G>A p.Arg515Gln p.R515Q ENST00000262406 NM_003835.3 515 cGg/cAg 0 Missense_Mutation G 39 RGS9 SNP 17 G A 60651718 60651718 Baylor RPA1 6117 hgsc.bcm.edu GRCh37 17 1800443 1800444 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000254719.5:c.1826dup p.Ser609ArgfsTer46 p.S609Rfs*46 ENST00000254719 NM_002945.3 609 agc/aGgc 0 Frame_Shift_Ins - 11 RPA1 INS 17 - G 1747194 1747193 Baylor RUNX2 860 hgsc.bcm.edu GRCh37 6 45514707 45514707 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371438.1:c.1231G>A p.Gly411Ser p.G411S ENST00000371438 NM_001024630.3 411 Ggt/Agt 0 Missense_Mutation G 39 RUNX2 SNP 6 G A 45622685 45622685 Baylor SEC14L3 266629 hgsc.bcm.edu GRCh37 22 30860822 30860822 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000215812.4:c.649A>T p.Ile217Phe p.I217F ENST00000215812 NM_174975.4 217 Att/Ttt 0 Missense_Mutation T 52 SEC14L3 SNP 22 T A 29190822 29190822 Baylor SLC9A8 23315 hgsc.bcm.edu GRCh37 20 48431625 48431625 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000417961.1:c.107C>T p.Pro36Leu p.P36L ENST00000417961 NM_015266.2 36 cCg/cTg 0 Missense_Mutation C 23 SLC9A8 SNP 20 C T 47865032 47865032 Baylor SNCB 6620 hgsc.bcm.edu GRCh37 5 176048262 176048262 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310112.3:c.325G>A p.Glu109Lys p.E109K ENST00000310112 NM_001001502.1 109 Gag/Aag 0 Missense_Mutation C 29 SNCB SNP 5 C T 175980868 175980868 Baylor SPOP 8405 hgsc.bcm.edu GRCh37 17 47688778 47688778 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000347630.2:c.522T>C p.Asn174= p.N174= ENST00000347630 NM_001007230.1 174 aaT/aaC 0 Silent A 16 SPOP SNP 17 A G 45043777 45043777 Baylor SYNE2 23224 hgsc.bcm.edu GRCh37 14 64685176 64685176 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358025.3:c.19603G>C p.Gly6535Arg p.G6535R ENST00000358025 NM_182914.2 6535 Ggc/Cgc 0 Missense_Mutation G 47 SYNE2 SNP 14 G C 63754929 63754929 Baylor TACC1 6867 hgsc.bcm.edu GRCh37 8 38677207 38677207 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000317827.4:c.445G>A p.Val149Met p.V149M ENST00000317827 NM_006283.2 149 Gtg/Atg 0 Missense_Mutation G 40 TACC1 SNP 8 G A 38796364 38796364 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578202 7578202 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269305.4:c.647T>G p.Val216Gly p.V216G ENST00000269305 NM_001126112.2 216 gTg/gGg 0 Missense_Mutation A 6 TP53 SNP 17 A C 7518927 7518927 Baylor UBE4B 10277 hgsc.bcm.edu GRCh37 1 10231358 10231358 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000343090.6:c.3496C>T p.Arg1166Trp p.R1166W ENST00000343090 NM_001105562.2 1166 Cgg/Tgg 0 Missense_Mutation C 31 UBE4B SNP 1 C T 10153945 10153945 Baylor YTHDC2 64848 hgsc.bcm.edu GRCh37 5 112899747 112899747 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000161863.4:c.2634A>G p.Gln878= p.Q878= ENST00000161863 NM_022828.3 878 caA/caG 0 Silent A 1 YTHDC2 SNP 5 A G 112927646 112927646 Baylor ZBTB7C 201501 hgsc.bcm.edu GRCh37 18 45566835 45566835 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000588982.1:c.644G>C p.Ser215Thr p.S215T ENST00000588982 215 aGt/aCt 0 Missense_Mutation C 20 ZBTB7C SNP 18 C G 43820833 43820833 Baylor ZMAT3 64393 hgsc.bcm.edu GRCh37 3 178745286 178745286 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311417.2:c.583C>T p.Arg195Trp p.R195W ENST00000311417 NM_022470.3 195 Cgg/Tgg 0 Missense_Mutation G 38 ZMAT3 SNP 3 G A 180227980 180227980 Baylor ZNF235 9310 hgsc.bcm.edu GRCh37 19 44792828 44792828 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000291182.4:c.760C>T p.Arg254Cys p.R254C ENST00000291182 NM_004234.4 254 Cgt/Tgt 0 Missense_Mutation G 38 ZNF235 SNP 19 G A 49484668 49484668 Baylor ZNF536 9745 hgsc.bcm.edu GRCh37 19 31025800 31025800 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1364-01 TCGA-04-1364-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355537.3:c.2217G>A p.Ala739= p.A739= ENST00000355537 NM_014717.1 739 gcG/gcA 0 Silent G 38 ZNF536 SNP 19 G A 35717640 35717640 Baylor DNTTIP2 30836 broad.mit.edu GRCh37 1 94342764 94342764 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000436063.2:c.727C>T p.Gln243Ter p.Q243* ENST00000436063 NM_014597.4 243 Caa/Taa 0 Nonsense_Mutation G 48 DNTTIP2 SNP 1 G A 94115352 94115352 Broad PEAR1 375033 broad.mit.edu GRCh37 1 156876650 156876650 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000338302.3:c.622C>T p.Pro208Ser p.P208S ENST00000338302 208 Ccc/Tcc 0 Missense_Mutation C 22 PEAR1 SNP 1 C T 155143274 155143274 Broad FCRL1 115350 broad.mit.edu GRCh37 1 157772190 157772190 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000368176.3:c.584G>T p.Gly195Val p.G195V ENST00000368176 NM_001159398.1 195 gGg/gTg 0 Missense_Mutation C 22 FCRL1 SNP 1 C A 156038814 156038814 Broad ABL2 27 broad.mit.edu GRCh37 1 179095523 179095523 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000502732.1:c.676G>A p.Ala226Thr p.A226T ENST00000502732 NM_001168237.1 226 Gca/Aca 0 Missense_Mutation C 25 ABL2 SNP 1 C T 177362146 177362146 Broad TOR1AIP1 26092 broad.mit.edu GRCh37 1 179887039 179887039 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000606911.2:c.1417C>A p.Gln473Lys p.Q473K ENST00000606911 473 Cag/Aag 0 Missense_Mutation C 21 TOR1AIP1 SNP 1 C A 178153662 178153662 Broad PGBD5 79605 broad.mit.edu GRCh37 1 230498072 230498072 + intron_variant Intron SNP T T C novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000525115.1:c.125-5005A>G *42* ENST00000525115 0 Missense_Mutation T 52 PGBD5 SNP 1 T C 228564695 228564695 Broad VIM 7431 broad.mit.edu GRCh37 10 17271899 17271899 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000544301.1:c.478C>A p.Gln160Lys p.Q160K ENST00000544301 NM_003380.3 160 Cag/Aag 0 Missense_Mutation C 25 VIM SNP 10 C A 17311905 17311905 Broad CSGALNACT2 55454 broad.mit.edu GRCh37 10 43662538 43662538 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000374466.3:c.1246C>A p.Gln416Lys p.Q416K ENST00000374466 NM_018590.4 416 Cag/Aag 0 Missense_Mutation C 25 CSGALNACT2 SNP 10 C A 42982544 42982544 Broad PLA2G12B 84647 broad.mit.edu GRCh37 10 74702417 74702417 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000373032.3:c.293C>T p.Pro98Leu p.P98L ENST00000373032 NM_032562.2 98 cCa/cTa 0 Missense_Mutation G 47 PLA2G12B SNP 10 G A 74372423 74372423 Broad C10orf12 84458 broad.mit.edu GRCh37 10 98743854 98743854 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000286067.2:c.2707G>A p.Val903Ile p.V903I ENST00000286067 NM_015652.2 903 Gtc/Atc 0 Missense_Mutation G 48 C10orf12 SNP 10 G A 98733844 98733844 Broad COL17A1 1308 broad.mit.edu GRCh37 10 105799749 105799749 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000353479.5:c.2770G>T p.Gly924Cys p.G924C ENST00000353479 NM_000494.3 924 Ggc/Tgc 0 Missense_Mutation C 24 COL17A1 SNP 10 C A 105789739 105789739 Broad TMEM132A 54972 broad.mit.edu GRCh37 11 60701182 60701182 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000005286.4:c.1528G>T p.Val510Phe p.V510F ENST00000005286 NM_178031.2 510 Gtc/Ttc 0 Missense_Mutation G 44 TMEM132A SNP 11 G T 60457758 60457758 Broad CD248 57124 broad.mit.edu GRCh37 11 66082550 66082550 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000311330.3:c.1949G>T p.Gly650Val p.G650V ENST00000311330 NM_020404.2 650 gGc/gTc 0 Missense_Mutation C 26 CD248 SNP 11 C A 65839126 65839126 Broad CACNA2D4 93589 broad.mit.edu GRCh37 12 1910775 1910775 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000382722.5:c.2757C>G p.Val919= p.V919= ENST00000382722 NM_172364.4 919 gtC/gtG 0 Silent G 41 CACNA2D4 SNP 12 G C 1781036 1781036 Broad ANO6 196527 broad.mit.edu GRCh37 12 45797240 45797240 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000423947.3:c.1864C>T p.Leu622Phe p.L622F ENST00000423947 NM_001204803.1 622 Ctt/Ttt 0 Missense_Mutation C 32 ANO6 SNP 12 C T 44083507 44083507 Broad NUP37 79023 broad.mit.edu GRCh37 12 102512173 102512173 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000552283.1:c.124A>G p.Asn42Asp p.N42D ENST00000552283 42 Aat/Gat 0 Missense_Mutation T 61 NUP37 SNP 12 T C 101036303 101036303 Broad PAH 5053 broad.mit.edu GRCh37 12 103238138 103238138 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000553106.1:c.1041C>T p.Leu347= p.L347= ENST00000553106 NM_000277.1 347 ctC/ctT 0 Silent G 41 PAH SNP 12 G A 101762268 101762268 Broad ACAD10 80724 broad.mit.edu GRCh37 12 112184010 112184010 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000455480.2:c.2271A>G p.Lys757= p.K757= ENST00000455480 NM_001136538.1 757 aaA/aaG 0 Silent A 1 ACAD10 SNP 12 A G 110668393 110668393 Broad RASAL1 8437 broad.mit.edu GRCh37 12 113552608 113552608 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000546530.1:c.1178C>T p.Thr393Ile p.T393I ENST00000546530 NM_004658.2 393 aCc/aTc 0 Missense_Mutation G 44 RASAL1 SNP 12 G A 112036991 112036991 Broad AMER2 219287 broad.mit.edu GRCh37 13 25744713 25744713 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000515384.1:c.1045G>T p.Ala349Ser p.A349S ENST00000515384 349 Gcc/Tcc 0 Missense_Mutation C 25 FAM123A SNP 13 C A 24642713 24642713 Broad EVL 51466 broad.mit.edu GRCh37 14 100594935 100594935 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000392920.3:c.567A>C p.Pro189= p.P189= ENST00000392920 NM_016337.2 189 ccA/ccC 0 Silent A 6 EVL SNP 14 A C 99664688 99664688 Broad TP53 7157 broad.mit.edu GRCh37 17 7579374 7579374 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.313G>T p.Gly105Cys p.G105C ENST00000269305 NM_001126112.2 105 Ggc/Tgc 0 Missense_Mutation C 22 TP53 SNP 17 C A 7520099 7520099 Broad RNF43 54894 broad.mit.edu GRCh37 17 56440900 56440900 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000407977.2:c.437C>G p.Ala146Gly p.A146G ENST00000407977 146 gCt/gGt 0 Missense_Mutation G 34 RNF43 SNP 17 G C 53795899 53795899 Broad CYP2A7 1549 broad.mit.edu GRCh37 19 41384841 41384841 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000301146.4:c.655C>A p.Leu219Ile p.L219I ENST00000301146 NM_000764.2 219 Ctc/Atc 0 Missense_Mutation G 34 CYP2A7 SNP 19 G T 46076681 46076681 Broad PTOV1 53635 broad.mit.edu GRCh37 19 50357716 50357716 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000391842.1:c.225G>A p.Gly75= p.G75= ENST00000391842 NM_017432.3 75 ggG/ggA 0 Silent G 42 PTOV1 SNP 19 G A 55049528 55049528 Broad EPS8L1 54869 broad.mit.edu GRCh37 19 55597530 55597530 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000201647.6:c.1620G>A p.Leu540= p.L540= ENST00000201647 NM_133180.2 540 ctG/ctA 0 Silent G 46 EPS8L1 SNP 19 G A 60289342 60289342 Broad WDR35 57539 broad.mit.edu GRCh37 2 20114036 20114036 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000345530.3:c.3157C>G p.Leu1053Val p.L1053V ENST00000345530 NM_001006657.1 1053 Ctt/Gtt 0 Missense_Mutation G 33 WDR35 SNP 2 G C 19977517 19977517 Broad MPHOSPH10 10199 broad.mit.edu GRCh37 2 71357836 71357836 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000244230.2:c.41G>C p.Cys14Ser p.C14S ENST00000244230 NM_005791.2 14 tGt/tCt 0 Missense_Mutation G 48 MPHOSPH10 SNP 2 G C 71211344 71211344 Broad TRAK2 66008 broad.mit.edu GRCh37 2 202245678 202245678 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000332624.3:c.2333C>T p.Pro778Leu p.P778L ENST00000332624 NM_015049.2 778 cCa/cTa 0 Missense_Mutation G 47 TRAK2 SNP 2 G A 201953923 201953923 Broad BMPR2 659 broad.mit.edu GRCh37 2 203421039 203421039 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000374580.4:c.2651T>C p.Leu884Pro p.L884P ENST00000374580 NM_001204.6 884 cTg/cCg 0 Missense_Mutation T 55 BMPR2 SNP 2 T C 203129284 203129284 Broad COL6A3 1293 broad.mit.edu GRCh37 2 238275648 238275648 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000295550.4:c.5182G>T p.Val1728Leu p.V1728L ENST00000295550 NM_004369.3 1728 Gta/Tta 0 Missense_Mutation C 18 COL6A3 SNP 2 C A 237940387 237940387 Broad BCL2L13 23786 broad.mit.edu GRCh37 22 18209790 18209790 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000317582.5:c.948C>T p.Pro316= p.P316= ENST00000317582 NM_015367.3 316 ccC/ccT 0 Silent C 23 BCL2L13 SNP 22 C T 16589790 16589790 Broad SULT4A1 25830 broad.mit.edu GRCh37 22 44258238 44258239 + missense_variant Missense_Mutation DNP GG GG CT novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000330884.4:c.24_25delinsAG p.Pro9Ala p.P9A ENST00000330884 NM_014351.3 8 acCCcc/acAGcc 0 Missense_Mutation GG 43 SULT4A1 DNP 22 GG CT 42589572 42589571 Broad TTLL8 164714 broad.mit.edu GRCh37 22 50483713 50483713 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000433387.1:c.722C>A p.Ala241Asp p.A241D ENST00000433387 241 gCc/gAc 0 Missense_Mutation G 42 TTLL8 SNP 22 G T 48825840 48825840 Broad ATP2B2 491 broad.mit.edu GRCh37 3 10417222 10417222 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000360273.2:c.1308C>T p.Tyr436= p.Y436= ENST00000360273 NM_001001331.2 436 taC/taT 0 Silent G 40 ATP2B2 SNP 3 G A 10392222 10392222 Broad GOLGB1 2804 broad.mit.edu GRCh37 3 121416861 121416861 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000393667.3:c.2509C>G p.Leu837Val p.L837V ENST00000393667 NM_001256486.1 837 Ctg/Gtg 0 Missense_Mutation G 35 GOLGB1 SNP 3 G C 122899551 122899551 Broad IGSF10 285313 broad.mit.edu GRCh37 3 151161562 151161562 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000282466.3:c.5173G>A p.Ala1725Thr p.A1725T ENST00000282466 NM_178822.4 1725 Gca/Aca 0 Missense_Mutation C 27 IGSF10 SNP 3 C T 152644252 152644252 Broad MSX1 4487 broad.mit.edu GRCh37 4 4864494 4864494 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000382723.4:c.536T>G p.Phe179Cys p.F179C ENST00000382723 NM_002448.3 179 tTc/tGc 0 Missense_Mutation T 62 MSX1 SNP 4 T G 4915395 4915395 Broad KLKB1 3818 broad.mit.edu GRCh37 4 187153389 187153389 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000264690.6:c.167G>A p.Arg56Lys p.R56K ENST00000264690 NM_000892.3 56 aGg/aAg 0 Missense_Mutation G 35 KLKB1 SNP 4 G A 187390383 187390383 Broad SLC6A3 6531 broad.mit.edu GRCh37 5 1432744 1432744 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000270349.9:c.488C>T p.Ala163Val p.A163V ENST00000270349 NM_001044.4 163 gCg/gTg 0 Missense_Mutation G 38 SLC6A3 SNP 5 G A 1485744 1485744 Broad IL13 3596 broad.mit.edu GRCh37 5 131993883 131993883 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000304506.3:c.5A>G p.His2Arg p.H2R ENST00000304506 NM_002188.2 2 cAt/cGt 0 Missense_Mutation A 8 IL13 SNP 5 A G 132021782 132021782 Broad ITK 3702 broad.mit.edu GRCh37 5 156672999 156672999 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000422843.3:c.1623G>A p.Val541= p.V541= ENST00000422843 NM_005546.3 541 gtG/gtA 0 Silent G 48 ITK SNP 5 G A 156605577 156605577 Broad CDHR2 54825 broad.mit.edu GRCh37 5 176013008 176013008 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000510636.1:c.2788C>T p.Pro930Ser p.P930S ENST00000510636 NM_001171976.1 930 Cct/Tct 0 Missense_Mutation C 26 CDHR2 SNP 5 C T 175945614 175945614 Broad EXOC2 55770 broad.mit.edu GRCh37 6 553866 553866 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000230449.4:c.2109C>T p.Phe703= p.F703= ENST00000230449 NM_018303.5 703 ttC/ttT 0 Silent G 45 EXOC2 SNP 6 G A 498866 498866 Broad WRNIP1 56897 broad.mit.edu GRCh37 6 2785293 2785293 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000380773.4:c.1775A>T p.Glu592Val p.E592V ENST00000380773 NM_020135.2 592 gAg/gTg 0 Missense_Mutation A 11 WRNIP1 SNP 6 A T 2730292 2730292 Broad MICAL1 64780 broad.mit.edu GRCh37 6 109768384 109768384 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000358807.3:c.2119C>T p.Leu707= p.L707= ENST00000358807 NM_022765.3 707 Ctg/Ttg 0 Silent G 35 MICAL1 SNP 6 G A 109875077 109875077 Broad CHMP7 91782 broad.mit.edu GRCh37 8 23118058 23118058 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000397677.1:c.1308C>T p.Val436= p.V436= ENST00000397677 NM_152272.3 436 gtC/gtT 0 Silent C 30 CHMP7 SNP 8 C T 23174003 23174003 Broad LRP12 29967 broad.mit.edu GRCh37 8 105521276 105521276 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000276654.5:c.163C>G p.Arg55Gly p.R55G ENST00000276654 NM_013437.4 55 Cga/Gga 0 Missense_Mutation G 40 LRP12 SNP 8 G C 105590452 105590452 Broad EXT1 2131 broad.mit.edu GRCh37 8 118830689 118830689 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000378204.2:c.1617T>G p.Ile539Met p.I539M ENST00000378204 NM_000127.2 539 atT/atG 0 Missense_Mutation A 5 EXT1 SNP 8 A C 118899870 118899870 Broad IKBKAP 8518 broad.mit.edu GRCh37 9 111651666 111651666 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000374647.5:c.3168G>C p.Leu1056= p.L1056= ENST00000374647 NM_003640.3 1056 ctG/ctC 0 Silent C 21 IKBKAP SNP 9 C G 110691487 110691487 Broad CCDC120 90060 broad.mit.edu GRCh37 X 48925242 48925242 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000422185.2:c.1487G>A p.Ser496Asn p.S496N ENST00000422185 NM_001163322.2 496 aGc/aAc 0 Missense_Mutation G 34 CCDC120 SNP 23 G A 48812186 48812186 Broad STARD8 9754 broad.mit.edu GRCh37 X 67937370 67937370 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000374599.3:c.614G>A p.Arg205His p.R205H ENST00000374599 NM_001142503.2 205 cGt/cAt 0 Missense_Mutation G 40 STARD8 SNP 23 G A 67854095 67854095 Broad LPAR4 2846 broad.mit.edu GRCh37 X 78010858 78010858 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000435339.3:c.492C>A p.Ile164= p.I164= ENST00000435339 NM_005296.2 164 atC/atA 0 Silent C 30 LPAR4 SNP 23 C A 77897514 77897514 Broad DCAF12L1 139170 broad.mit.edu GRCh37 X 125685274 125685274 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000371126.1:c.1318G>T p.Glu440Ter p.E440* ENST00000371126 NM_178470.4 440 Gag/Tag 0 Nonsense_Mutation C 29 DCAF12L1 SNP 23 C A 125512955 125512955 Broad BCORL1 63035 broad.mit.edu GRCh37 X 129162663 129162663 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown x x x ENST00000540052.1:c.4132C>A p.Leu1378Ile p.L1378I ENST00000540052 NM_021946.4 1378 Ctc/Atc 0 Missense_Mutation C 24 BCORL1 SNP 23 C A 128990344 128990344 Broad NBPF10 100132406 broad.mit.edu GRCh37 1 145327546 145327550 + frameshift_variant Frame_Shift_Del DEL TGAAT TGAAT - novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000342960.5:c.4103_4107del p.Leu1368GlnfsTer11 p.L1368Qfs*11 ENST00000342960 NM_001039703.5 1368 cTGAAT/c 0 Frame_Shift_Del TGAAT 55 NBPF10 DEL 1 - TGAAT 144038907 144038903 Broad SUSD4 55061 broad.mit.edu GRCh37 1 223536702 223536703 + inframe_insertion In_Frame_Ins INS - - TGC novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000343846.3:c.63_65dup p.Gln22dup p.Q22dup ENST00000343846 22 caa/caGCAa 0 In_Frame_Ins - 60 SUSD4 INS 1 TGC - 221603326 221603325 Broad RCOR2 283248 broad.mit.edu GRCh37 11 63681914 63681934 + inframe_deletion In_Frame_Del DEL CCAGCCGCCGGGCCTGTCTGT CCAGCCGCCGGGCCTGTCTGT - novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000301459.4:c.560_580del p.Asp187_Leu193del p.D187_L193del ENST00000301459 NM_173587.3 187 gACAGACAGGCCCGGCGGCTGGgg/ggg 0 In_Frame_Del CCAGCCGCCGGGCCTGTCTGT 22 RCOR2 DEL 11 - CCAGCCGCCGGGCCTGTCTGT 63438510 63438490 Broad TGIF1 7050 broad.mit.edu GRCh37 18 3452223 3452223 + frameshift_variant Frame_Shift_Del DEL T T - rs11571510 byCluster TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000330513.5:c.246delT p.Pro83LeufsTer51 p.P83Lfs*51 ENST00000330513 NM_170695.3 82 ccT/cc 0 Frame_Shift_Del T 54 TGIF1 DEL 18 - T 3442223 3442223 Broad FAM86B2 653333 broad.mit.edu GRCh37 8 12291593 12291595 + inframe_deletion In_Frame_Del DEL CTG CTG - novel Unknown TCGA-13-1494-01 TCGA-13-1494-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000262365.4:c.125_127del p.Ser42_Asp43delinsTyr p.S42_D43delinsY ENST00000262365 NM_001137610.1 42 tCAGat/tat 0 In_Frame_Del CTG 32 FAM86B2 DEL 8 - CTG 12335966 12335964 Broad TCEB3 6924 broad.mit.edu GRCh37 1 24077510 24077510 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000418390.2:c.493C>A p.Leu165Ile p.L165I ENST00000418390 NM_003198.2 165 Ctc/Atc 0 Missense_Mutation C 28 TCEB3 SNP 1 C A 23950097 23950097 Broad ECM1 1893 broad.mit.edu GRCh37 1 150483554 150483554 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000369049.4:c.669A>G p.Pro223= p.P223= ENST00000369049 NM_001202858.1 223 ccA/ccG 0 Silent A 6 ECM1 SNP 1 A G 148750178 148750178 Broad HRNR 388697 broad.mit.edu GRCh37 1 152192404 152192404 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000368801.2:c.1701G>T p.Arg567Ser p.R567S ENST00000368801 NM_001009931.2 567 agG/agT 0 Missense_Mutation C 18 HRNR SNP 1 C A 150459028 150459028 Broad SMG5 23381 broad.mit.edu GRCh37 1 156230371 156230371 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000361813.5:c.2154A>G p.Glu718= p.E718= ENST00000361813 NM_015327.2 718 gaA/gaG 0 Silent T 60 SMG5 SNP 1 T C 154496995 154496995 Broad ATP1B1 481 broad.mit.edu GRCh37 1 169080710 169080710 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000367816.1:c.200C>T p.Thr67Ile p.T67I ENST00000367816 67 aCa/aTa 0 Missense_Mutation C 17 ATP1B1 SNP 1 C T 167347334 167347334 Broad MTR 4548 broad.mit.edu GRCh37 1 237015827 237015827 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000366577.5:c.1702T>C p.Leu568= p.L568= ENST00000366577 NM_000254.2 568 Tta/Cta 0 Silent T 52 MTR SNP 1 T C 235082450 235082450 Broad DNA2 1763 broad.mit.edu GRCh37 10 70218973 70218973 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000399180.2:c.865C>G p.Gln289Glu p.Q289E ENST00000399180 289 Caa/Gaa 0 Missense_Mutation G 45 DNA2 SNP 10 G C 69888979 69888979 Broad TACR2 6865 broad.mit.edu GRCh37 10 71166946 71166946 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000373306.4:c.832G>T p.Asp278Tyr p.D278Y ENST00000373306 NM_001057.2 278 Gac/Tac 0 Missense_Mutation C 30 TACR2 SNP 10 C A 70836952 70836952 Broad SH3PXD2A 9644 broad.mit.edu GRCh37 10 105362558 105362558 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000355946.2:c.2333C>T p.Thr778Met p.T778M ENST00000355946 NM_014631.2 778 aCg/aTg 0 Missense_Mutation G 40 SH3PXD2A SNP 10 G A 105352548 105352548 Broad OR56A1 120796 broad.mit.edu GRCh37 11 6048913 6048913 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000316650.5:c.22C>A p.Pro8Thr p.P8T ENST00000316650 NM_001001917.2 8 Ccc/Acc 0 Missense_Mutation G 44 OR56A1 SNP 11 G T 6005489 6005489 Broad LGR4 55366 broad.mit.edu GRCh37 11 27389448 27389448 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000379214.4:c.2822G>T p.Arg941Leu p.R941L ENST00000379214 NM_018490.2 941 cGc/cTc 0 Missense_Mutation C 27 LGR4 SNP 11 C A 27346024 27346024 Broad FAT3 120114 broad.mit.edu GRCh37 11 92495129 92495129 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000298047.6:c.3777C>A p.Tyr1259Ter p.Y1259* ENST00000298047 1259 taC/taA 0 Nonsense_Mutation C 18 FAT3 SNP 11 C A 92134777 92134777 Broad PRB4 5545 broad.mit.edu GRCh37 12 11461282 11461282 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000279575.1:c.635A>T p.Asn212Ile p.N212I ENST00000279575 NM_001261399.1 212 aAt/aTt 0 Missense_Mutation T 52 PRB4 SNP 12 T A 11352549 11352549 Broad KCNC2 3747 broad.mit.edu GRCh37 12 75601654 75601654 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000549446.1:c.110T>C p.Leu37Pro p.L37P ENST00000549446 NM_001260497.1 37 cTt/cCt 0 Missense_Mutation A 3 KCNC2 SNP 12 A G 73887921 73887921 Broad MLNR 2862 broad.mit.edu GRCh37 13 49795312 49795312 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000218721.1:c.839C>T p.Pro280Leu p.P280L ENST00000218721 NM_001507.1 280 cCg/cTg 0 Missense_Mutation C 23 MLNR SNP 13 C T 48693313 48693313 Broad EML5 161436 broad.mit.edu GRCh37 14 89129375 89129375 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000554922.1:c.3498G>A p.Glu1166= p.E1166= ENST00000554922 NM_183387.2 1166 gaG/gaA 0 Silent C 24 EML5 SNP 14 C T 88199128 88199128 Broad BDKRB1 623 broad.mit.edu GRCh37 14 96730768 96730768 + missense_variant Missense_Mutation SNP C C T rs2229459 byHapMap TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000216629.6:c.749C>T p.Ala250Val p.A250V ENST00000216629 NM_000710.3 250 gCg/gTg 0 Missense_Mutation C 27 BDKRB1 SNP 14 C T 95800521 95800521 Broad TLN2 83660 broad.mit.edu GRCh37 15 63125721 63125721 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000561311.1:c.7021G>A p.Asp2341Asn p.D2341N ENST00000561311 2341 Gac/Aac 0 Missense_Mutation G 41 TLN2 SNP 15 G A 60912774 60912774 Broad MAN2A2 4122 broad.mit.edu GRCh37 15 91454188 91454188 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000360468.3:c.1872A>C p.Gln624His p.Q624H ENST00000360468 NM_006122.2 624 caA/caC 0 Missense_Mutation A 3 MAN2A2 SNP 15 A C 89255192 89255192 Broad ZNF213 7760 broad.mit.edu GRCh37 16 3190722 3190722 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000396878.3:c.754C>T p.Leu252= p.L252= ENST00000396878 NM_001134655.1 252 Ctg/Ttg 0 Silent C 24 ZNF213 SNP 16 C T 3130723 3130723 Broad PRSS54 221191 broad.mit.edu GRCh37 16 58327680 58327680 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000219301.4:c.41G>A p.Arg14Gln p.R14Q ENST00000219301 NM_001080492.1 14 cGa/cAa 0 Missense_Mutation C 31 PRSS54 SNP 16 C T 56885181 56885181 Broad NEURL4 84461 broad.mit.edu GRCh37 17 7229863 7229863 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000399464.2:c.1097G>A p.Arg366His p.R366H ENST00000399464 NM_032442.2 366 cGt/cAt 0 Missense_Mutation C 19 NEURL4 SNP 17 C T 7170587 7170587 Broad GID4 79018 broad.mit.edu GRCh37 17 17962274 17962274 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000268719.4:c.699G>A p.Met233Ile p.M233I ENST00000268719 NM_024052.4 233 atG/atA 0 Missense_Mutation G 45 C17orf39 SNP 17 G A 17902999 17902999 Broad FKBP10 60681 broad.mit.edu GRCh37 17 39976624 39976624 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000321562.4:c.1167T>G p.Ser389= p.S389= ENST00000321562 NM_021939.3 389 tcT/tcG 0 Silent T 55 FKBP10 SNP 17 T G 37230150 37230150 Broad MAP3K14 9020 broad.mit.edu GRCh37 17 43348463 43348465 + non_coding_transcript_exon_variant RNA TNP GGT GGT TTG novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000344686.2:n.1887_1889delinsCAA *629* ENST00000344686 0 Missense_Mutation GGT 43 MAP3K14 TNP 17 GGT TTG 40704248 40704246 Broad TANC2 26115 broad.mit.edu GRCh37 17 61495768 61495768 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000424789.2:c.4016G>A p.Arg1339Lys p.R1339K ENST00000424789 NM_025185.3 1339 aGa/aAa 0 Missense_Mutation G 35 TANC2 SNP 17 G A 58849500 58849500 Broad HMHA1 23526 broad.mit.edu GRCh37 19 1079997 1079997 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000539243.2:c.1631G>C p.Cys544Ser p.C544S ENST00000539243 NM_001258328.1 544 tGt/tCt 0 Missense_Mutation G 48 HMHA1 SNP 19 G C 1030997 1030997 Broad ZNF121 7675 broad.mit.edu GRCh37 19 9677501 9677501 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000320451.6:c.288C>G p.Ala96= p.A96= ENST00000320451 NM_001008727.2 96 gcC/gcG 0 Silent G 35 ZNF121 SNP 19 G C 9538501 9538501 Broad CILP2 148113 broad.mit.edu GRCh37 19 19653197 19653197 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000291495.5:c.606C>G p.Asp202Glu p.D202E ENST00000291495 NM_153221.2 202 gaC/gaG 0 Missense_Mutation C 17 CILP2 SNP 19 C G 19514197 19514197 Broad RTN2 6253 broad.mit.edu GRCh37 19 45992716 45992716 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000245923.4:c.1129G>A p.Val377Met p.V377M ENST00000245923 NM_005619.4 377 Gtg/Atg 0 Missense_Mutation C 19 RTN2 SNP 19 C T 50684556 50684556 Broad DACT3 147906 broad.mit.edu GRCh37 19 47151940 47151940 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000391916.2:c.1689C>A p.Ala563= p.A563= ENST00000391916 NM_145056.2 563 gcC/gcA 0 Silent G 35 DACT3 SNP 19 G T 51843780 51843780 Broad ZC3H4 23211 broad.mit.edu GRCh37 19 47570059 47570059 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000253048.5:c.3466G>A p.Ala1156Thr p.A1156T ENST00000253048 NM_015168.1 1156 Gcg/Acg 0 Missense_Mutation C 27 ZC3H4 SNP 19 C T 52261899 52261899 Broad TRIM54 57159 broad.mit.edu GRCh37 2 27521466 27521466 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000296098.4:c.200C>G p.Ser67Cys p.S67C ENST00000296098 NM_032546.3 67 tCc/tGc 0 Missense_Mutation C 30 TRIM54 SNP 2 C G 27374970 27374970 Broad EPAS1 2034 broad.mit.edu GRCh37 2 46583287 46583288 + splice_acceptor_variant,intron_variant Splice_Site DNP CA CA AT novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000263734.3:c.218-3_218-2delinsAT p.X73_splice ENST00000263734 NM_001430.4 0 Splice_Site_SNP CA 21 EPAS1 DNP 2 CA AT 46436792 46436791 Broad USP34 9736 broad.mit.edu GRCh37 2 61436105 61436105 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000398571.2:c.8848A>G p.Arg2950Gly p.R2950G ENST00000398571 NM_014709.3 2950 Aga/Gga 0 Missense_Mutation T 55 USP34 SNP 2 T C 61289609 61289609 Broad LRRTM1 347730 broad.mit.edu GRCh37 2 80529398 80529398 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000295057.3:c.1547C>A p.Pro516His p.P516H ENST00000295057 NM_178839.4 516 cCc/cAc 0 Missense_Mutation G 43 LRRTM1 SNP 2 G T 80382909 80382909 Broad ANKZF1 55139 broad.mit.edu GRCh37 2 220099841 220099841 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000323348.5:c.1498G>C p.Ala500Pro p.A500P ENST00000323348 NM_018089.2 500 Gct/Cct 0 Missense_Mutation G 46 ANKZF1 SNP 2 G C 219808085 219808085 Broad BPI 671 broad.mit.edu GRCh37 20 36956004 36956004 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000262865.4:c.1188C>T p.Ser396= p.S396= ENST00000262865 NM_001725.2 396 tcC/tcT 0 Silent C 21 BPI SNP 20 C T 36389418 36389418 Broad RBPJL 11317 broad.mit.edu GRCh37 20 43945519 43945519 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000343694.3:c.1474G>A p.Ala492Thr p.A492T ENST00000343694 NM_001281449.1 492 Gcc/Acc 0 Missense_Mutation G 38 RBPJL SNP 20 G A 43378933 43378933 Broad TXNRD2 10587 broad.mit.edu GRCh37 22 19902746 19902746 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000400521.1:c.582C>G p.Tyr194Ter p.Y194* ENST00000400521 NM_006440.3 194 taC/taG 0 Nonsense_Mutation G 44 TXNRD2 SNP 22 G C 18282746 18282746 Broad AIFM3 150209 broad.mit.edu GRCh37 22 21329035 21329035 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000399167.2:c.650G>T p.Gly217Val p.G217V ENST00000399167 NM_144704.2 217 gGc/gTc 0 Missense_Mutation G 42 AIFM3 SNP 22 G T 19659035 19659035 Broad SSTR3 6753 broad.mit.edu GRCh37 22 37603063 37603063 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000328544.3:c.780G>T p.Val260= p.V260= ENST00000328544 NM_001051.3 260 gtG/gtT 0 Silent C 21 SSTR3 SNP 22 C A 35933009 35933009 Broad PPP6R2 9701 broad.mit.edu GRCh37 22 50869735 50869735 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000395741.3:c.1262C>T p.Pro421Leu p.P421L ENST00000395741 421 cCg/cTg 0 Missense_Mutation C 23 PPP6R2 SNP 22 C T 49216601 49216601 Broad CHRD 8646 broad.mit.edu GRCh37 3 184102421 184102421 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000204604.1:c.1537G>A p.Gly513Arg p.G513R ENST00000204604 NM_003741.2 513 Gga/Aga 0 Missense_Mutation G 39 CHRD SNP 3 G A 185585115 185585115 Broad HTR1A 3350 broad.mit.edu GRCh37 5 63257368 63257368 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000323865.3:c.179C>T p.Ala60Val p.A60V ENST00000323865 NM_000524.3 60 gCc/gTc 0 Missense_Mutation G 42 HTR1A SNP 5 G A 63293124 63293124 Broad IQGAP2 10788 broad.mit.edu GRCh37 5 75979615 75979615 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000274364.6:c.3778G>A p.Asp1260Asn p.D1260N ENST00000274364 NM_006633.2 1260 Gac/Aac 0 Missense_Mutation G 45 IQGAP2 SNP 5 G A 76015371 76015371 Broad CD83 9308 broad.mit.edu GRCh37 6 14131810 14131810 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000379153.3:c.213G>A p.Gln71= p.Q71= ENST00000379153 NM_001040280.1 71 caG/caA 0 Silent G 34 CD83 SNP 6 G A 14239789 14239789 Broad PNISR 25957 broad.mit.edu GRCh37 6 99856121 99856121 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000369239.5:c.700G>A p.Ala234Thr p.A234T ENST00000369239 NM_032870.2 234 Gct/Act 0 Missense_Mutation C 27 SFRS18 SNP 6 C T 99962842 99962842 Broad TMEM181 57583 broad.mit.edu GRCh37 6 158994457 158994457 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000367090.3:c.425C>T p.Ala142Val p.A142V ENST00000367090 NM_020823.1 142 gCg/gTg 0 Missense_Mutation C 27 TMEM181 SNP 6 C T 158914445 158914445 Broad STEAP2 261729 broad.mit.edu GRCh37 7 89854832 89854832 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000287908.3:c.436T>C p.Phe146Leu p.F146L ENST00000287908 NM_152999.3 146 Ttt/Ctt 0 Missense_Mutation T 52 STEAP2 SNP 7 T C 89692768 89692768 Broad PTDSS1 9791 broad.mit.edu GRCh37 8 97342500 97342500 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000517309.1:c.1233C>A p.His411Gln p.H411Q ENST00000517309 NM_014754.1 411 caC/caA 0 Missense_Mutation C 18 PTDSS1 SNP 8 C A 97411676 97411676 Broad EHMT1 79813 broad.mit.edu GRCh37 9 140671219 140671219 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000460843.1:c.1941C>T p.Thr647= p.T647= ENST00000460843 NM_024757.4 647 acC/acT 0 Silent C 21 EHMT1 SNP 9 C T 139791040 139791040 Broad RAB9A 9367 broad.mit.edu GRCh37 X 13727278 13727278 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000464506.1:c.413C>T p.Ala138Val p.A138V ENST00000464506 NM_004251.4 138 gCc/gTc 0 Missense_Mutation C 26 RAB9A SNP 23 C T 13637199 13637199 Broad ACOT9 23597 broad.mit.edu GRCh37 X 23723953 23723953 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000379303.5:c.865G>T p.Val289Phe p.V289F ENST00000379303 NM_001037171.1 289 Gtt/Ttt 0 Missense_Mutation C 20 ACOT9 SNP 23 C A 23633874 23633874 Broad IQSEC2 23096 broad.mit.edu GRCh37 X 53279547 53279547 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1431-01 TCGA-24-1431-10 Unknown Unknown Unknown x x x ENST00000396435.3:c.2211G>T p.Glu737Asp p.E737D ENST00000396435 NM_001111125.2 737 gaG/gaT 0 Missense_Mutation C 32 IQSEC2 SNP 23 C A 53296272 53296272 Broad ERRFI1 54206 broad.mit.edu GRCh37 1 8074100 8074100 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000377482.5:c.559A>G p.Thr187Ala p.T187A ENST00000377482 NM_018948.3 187 Aca/Gca 0 Missense_Mutation T 57 ERRFI1 SNP 1 T C 7996687 7996687 Broad THRAP3 9967 broad.mit.edu GRCh37 1 36752576 36752576 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000354618.5:c.745C>G p.Pro249Ala p.P249A ENST00000354618 NM_005119.3 249 Cca/Gca 0 Missense_Mutation C 22 THRAP3 SNP 1 C G 36525163 36525163 Broad EPHA10 284656 broad.mit.edu GRCh37 1 38186021 38186022 + splice_donor_variant Splice_Site DNP AC AC CT novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000373048.4:c.2412+1_2412+2delinsAG p.X804_splice ENST00000373048 NM_001099439.1 0 Splice_Site_SNP AC 6 EPHA10 DNP 1 AC CT 37958609 37958608 Broad MAST2 23139 broad.mit.edu GRCh37 1 46489482 46489482 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000361297.2:c.1610G>A p.Arg537His p.R537H ENST00000361297 NM_015112.2 537 cGc/cAc 0 Missense_Mutation G 38 MAST2 SNP 1 G A 46262069 46262069 Broad ANK3 288 broad.mit.edu GRCh37 10 61834058 61834058 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000280772.2:c.6581C>G p.Pro2194Arg p.P2194R ENST00000280772 NM_020987.3 2194 cCt/cGt 0 Missense_Mutation G 35 ANK3 SNP 10 G C 61504064 61504064 Broad CCAR1 55749 broad.mit.edu GRCh37 10 70502218 70502218 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000265872.6:c.410C>G p.Ser137Cys p.S137C ENST00000265872 NM_018237.2 137 tCc/tGc 0 Missense_Mutation C 30 CCAR1 SNP 10 C G 70172224 70172224 Broad OPN4 94233 broad.mit.edu GRCh37 10 88418418 88418418 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000372071.2:c.635G>A p.Trp212Ter p.W212* ENST00000372071 NM_001030015.2 212 tGg/tAg 0 Nonsense_Mutation G 47 OPN4 SNP 10 G A 88408398 88408398 Broad NUMA1 4926 broad.mit.edu GRCh37 11 71727225 71727225 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000393695.3:c.1324G>A p.Glu442Lys p.E442K ENST00000393695 NM_006185.2 442 Gag/Aag 0 Missense_Mutation C 29 NUMA1 SNP 11 C T 71404873 71404873 Broad ING4 51147 broad.mit.edu GRCh37 12 6762177 6762177 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000396807.4:c.316C>T p.Arg106Cys p.R106C ENST00000396807 NM_001127586.1 106 Cgt/Tgt 0 Missense_Mutation G 39 ING4 SNP 12 G A 6632438 6632438 Broad CLEC1A 51267 broad.mit.edu GRCh37 12 10233859 10233859 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000315330.4:c.368G>A p.Arg123His p.R123H ENST00000315330 NM_016511.2 123 cGt/cAt 0 Missense_Mutation C 19 CLEC1A SNP 12 C T 10125126 10125126 Broad KNTC1 9735 broad.mit.edu GRCh37 12 123087765 123087765 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000333479.7:c.5076C>T p.Ile1692= p.I1692= ENST00000333479 NM_014708.4 1692 atC/atT 0 Silent C 29 KNTC1 SNP 12 C T 121653718 121653718 Broad MAB21L1 4081 broad.mit.edu GRCh37 13 36049848 36049848 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000379919.4:c.428G>A p.Cys143Tyr p.C143Y ENST00000379919 NM_005584.4 143 tGt/tAt 0 Missense_Mutation C 17 MAB21L1 SNP 13 C T 34947848 34947848 Broad OR4K5 79317 broad.mit.edu GRCh37 14 20389056 20389056 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000315915.4:c.291C>T p.Cys97= p.C97= ENST00000315915 NM_001005483.1 97 tgC/tgT 0 Silent C 25 OR4K5 SNP 14 C T 19458896 19458896 Broad TGM7 116179 broad.mit.edu GRCh37 15 43584907 43584907 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000452443.2:c.439G>T p.Glu147Ter p.E147* ENST00000452443 NM_052955.2 147 Gag/Tag 0 Nonsense_Mutation C 24 TGM7 SNP 15 C A 41372199 41372199 Broad PKD1L2 114780 broad.mit.edu GRCh37 16 81253841 81253841 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000337114.4:c.135C>T p.Leu45= p.L45= ENST00000337114 NM_001076780.1 45 ctC/ctT 0 Silent G 37 PKD1L2 SNP 16 G A 79811342 79811342 Broad TP53 7157 broad.mit.edu GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 Missense_Mutation T 49 TP53 SNP 17 T C 7518915 7518915 Broad MAP2K3 5606 broad.mit.edu GRCh37 17 21203935 21203935 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000342679.4:c.244C>T p.Arg82Trp p.R82W ENST00000342679 NM_145109.2 82 Cgg/Tgg 0 Missense_Mutation C 27 MAP2K3 SNP 17 C T 21144528 21144528 Broad GRIN2C 2905 broad.mit.edu GRCh37 17 72842205 72842205 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000293190.5:c.2350G>A p.Gly784Arg p.G784R ENST00000293190 NM_000835.4 784 Gga/Aga 0 Missense_Mutation C 23 GRIN2C SNP 17 C T 70353800 70353800 Broad CTIF 9811 broad.mit.edu GRCh37 18 46385824 46385824 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000382998.4:c.1697G>A p.Arg566Gln p.R566Q ENST00000382998 NM_001142397.1 566 cGg/cAg 0 Missense_Mutation G 39 KIAA0427 SNP 18 G A 44639822 44639822 Broad EVI5L 115704 broad.mit.edu GRCh37 19 7912660 7912660 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000538904.2:c.180C>T p.Gly60= p.G60= ENST00000538904 NM_001159944.1 60 ggC/ggT 0 Silent C 28 EVI5L SNP 19 C T 7818660 7818660 Broad KCNF1 3754 broad.mit.edu GRCh37 2 11053928 11053928 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000295082.1:c.1376A>C p.Lys459Thr p.K459T ENST00000295082 NM_002236.4 459 aAg/aCg 0 Missense_Mutation A 3 KCNF1 SNP 2 A C 10971379 10971379 Broad C2orf71 388939 broad.mit.edu GRCh37 2 29296288 29296288 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000331664.5:c.840G>T p.Val280= p.V280= ENST00000331664 NM_001029883.2 280 gtG/gtT 0 Silent C 25 C2orf71 SNP 2 C A 29149792 29149792 Broad IL17RB 55540 broad.mit.edu GRCh37 3 53882694 53882694 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000288167.3:c.64G>A p.Val22Ile p.V22I ENST00000288167 NM_018725.3 22 Gtt/Att 0 Missense_Mutation G 40 IL17RB SNP 3 G A 53857734 53857734 Broad IGSF10 285313 broad.mit.edu GRCh37 3 151165416 151165416 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000282466.3:c.2353C>G p.Gln785Glu p.Q785E ENST00000282466 NM_178822.4 785 Caa/Gaa 0 Missense_Mutation G 47 IGSF10 SNP 3 G C 152648106 152648106 Broad PPARGC1A 10891 broad.mit.edu GRCh37 4 23797452 23797452 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264867.2:c.2390G>A p.Arg797His p.R797H ENST00000264867 NM_013261.3 797 cGc/cAc 0 Missense_Mutation C 27 PPARGC1A SNP 4 C T 23406550 23406550 Broad UNC5C 8633 broad.mit.edu GRCh37 4 96199475 96199475 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000453304.1:c.529G>A p.Glu177Lys p.E177K ENST00000453304 NM_003728.3 177 Gaa/Aaa 0 Missense_Mutation C 30 UNC5C SNP 4 C T 96418498 96418498 Broad GNL1 2794 broad.mit.edu GRCh37 6 30521185 30521185 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000376621.3:c.750C>T p.His250= p.H250= ENST00000376621 NM_005275.3 250 caC/caT 0 Silent G 40 GNL1 SNP 6 G A 30629164 30629164 Broad ZNF3 7551 broad.mit.edu GRCh37 7 99669002 99669002 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000303915.6:c.1105G>A p.Glu369Lys p.E369K ENST00000303915 369 Gaa/Aaa 0 Missense_Mutation C 31 ZNF3 SNP 7 C T 99506938 99506938 Broad COG5 10466 broad.mit.edu GRCh37 7 107204342 107204342 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000297135.3:c.93C>A p.Asn31Lys p.N31K ENST00000297135 NM_006348.3 31 aaC/aaA 0 Missense_Mutation G 48 COG5 SNP 7 G T 106991578 106991578 Broad ZBTB34 403341 broad.mit.edu GRCh37 9 129642137 129642137 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown x x x ENST00000373452.2:c.447C>A p.Asn149Lys p.N149K ENST00000373452 149 aaC/aaA 0 Missense_Mutation C 19 ZBTB34 SNP 9 C A 128681958 128681958 Broad CDK12 51755 broad.mit.edu GRCh37 17 37676281 37676289 + inframe_deletion In_Frame_Del DEL ACAGACCCT ACAGACCCT - novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 - ACAGACCCT ACAGACCCT ACAGACCCT Unknown Valid Somatic Phase_I Capture Illumina GAIIx ENST00000447079.4:c.3041_3049del p.Thr1014_Gln1016del p.T1014_Q1016del ENST00000447079 NM_015083.1 1012 gaACAGACCCTa/gaa 0 In_Frame_Del ACAGACCCT 2 CDK12 DEL 17 - ACAGACCCT 34929815 34929807 Broad CPS1 1373 broad.mit.edu GRCh37 2 211456662 211456662 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0891-01 TCGA-13-0891-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000430249.2:c.1077del p.Phe359LeufsTer2 p.F359Lfs*2 ENST00000430249 NM_001122633.2 358 cTt/ct 0 Frame_Shift_Del T 56 CPS1 DEL 2 - T 211164907 211164907 Broad MASP2 10747 broad.mit.edu GRCh37 1 11087367 11087367 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000400897.3:c.1636A>T p.Ser546Cys p.S546C ENST00000400897 NM_006610.3 546 Agc/Tgc 0 Missense_Mutation T 53 MASP2 SNP 1 T A 11009954 11009954 Broad IQCC 55721 broad.mit.edu GRCh37 1 32671810 32671810 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000537469.1:c.338A>T p.Tyr113Phe p.Y113F ENST00000537469 NM_001160042.1 113 tAt/tTt 0 Missense_Mutation A 16 IQCC SNP 1 A T 32444397 32444397 Broad ST3GAL3 6487 broad.mit.edu GRCh37 1 44360113 44360113 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000262915.3:c.568C>T p.Arg190Trp p.R190W ENST00000262915 NM_174963.3 190 Cgg/Tgg 0 Missense_Mutation C 23 ST3GAL3 SNP 1 C T 44132700 44132700 Broad SLC5A9 200010 broad.mit.edu GRCh37 1 48690414 48690414 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000236495.5:c.181C>T p.Arg61Ter p.R61* ENST00000236495 NM_001135181.1 61 Cga/Tga 0 Nonsense_Mutation C 31 SLC5A9 SNP 1 C T 48463001 48463001 Broad ORC1 4998 broad.mit.edu GRCh37 1 52859246 52859246 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000371568.3:c.951C>G p.Ile317Met p.I317M ENST00000371568 NM_001190818.1 317 atC/atG 0 Missense_Mutation G 41 ORC1L SNP 1 G C 52631834 52631834 Broad LRRC7 57554 broad.mit.edu GRCh37 1 70257750 70257750 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000035383.5:c.214C>G p.Arg72Gly p.R72G ENST00000035383 NM_020794.2 72 Cga/Gga 0 Missense_Mutation C 19 LRRC7 SNP 1 C G 70030338 70030338 Broad GDAP2 54834 broad.mit.edu GRCh37 1 118424460 118424460 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000369443.5:c.1287C>T p.Pro429= p.P429= ENST00000369443 NM_017686.3 429 ccC/ccT 0 Silent G 47 GDAP2 SNP 1 G A 118225983 118225983 Broad PRUNE 58497 broad.mit.edu GRCh37 1 151006557 151006557 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000271620.3:c.1209G>C p.Glu403Asp p.E403D ENST00000271620 NM_021222.1 403 gaG/gaC 0 Missense_Mutation G 35 PRUNE SNP 1 G C 149273181 149273181 Broad FLG 2312 broad.mit.edu GRCh37 1 152276888 152276888 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000368799.1:c.10474G>T p.Asp3492Tyr p.D3492Y ENST00000368799 NM_002016.1 3492 Gac/Tac 0 Missense_Mutation C 29 FLG SNP 1 C A 150543512 150543512 Broad PPOX 5498 broad.mit.edu GRCh37 1 161140960 161140960 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000367999.4:c.1428C>T p.Asn476= p.N476= ENST00000367999 NM_001122764.1 476 aaC/aaT 0 Silent C 17 PPOX SNP 1 C T 159407584 159407584 Broad PLAU 5328 broad.mit.edu GRCh37 10 75672760 75672760 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000372764.3:c.272G>T p.Cys91Phe p.C91F ENST00000372764 NM_002658.3 91 tGc/tTc 0 Missense_Mutation G 46 PLAU SNP 10 G T 75342766 75342766 Broad BUB3 9184 broad.mit.edu GRCh37 10 124921870 124921870 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000368865.4:c.695A>G p.Glu232Gly p.E232G ENST00000368865 NM_004725.3 232 gAg/gGg 0 Missense_Mutation A 11 BUB3 SNP 10 A G 124911860 124911860 Broad LUZP2 338645 broad.mit.edu GRCh37 11 24998138 24998138 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000336930.6:c.524C>G p.Ala175Gly p.A175G ENST00000336930 175 gCg/gGg 0 Missense_Mutation C 27 LUZP2 SNP 11 C G 24954714 24954714 Broad SLCO2B1 11309 broad.mit.edu GRCh37 11 74911328 74911328 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000289575.5:c.1659C>A p.Cys553Ter p.C553* ENST00000289575 NM_007256.4 553 tgC/tgA 0 Nonsense_Mutation C 27 SLCO2B1 SNP 11 C A 74588976 74588976 Broad KCTD14 65987 broad.mit.edu GRCh37 11 77728292 77728292 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000353172.5:c.115G>A p.Val39Ile p.V39I ENST00000353172 NM_023930.3 39 Gtc/Atc 0 Missense_Mutation C 19 KCTD14 SNP 11 C T 77405940 77405940 Broad FAT3 120114 broad.mit.edu GRCh37 11 92087551 92087551 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000298047.6:c.2273A>G p.Asn758Ser p.N758S ENST00000298047 758 aAt/aGt 0 Missense_Mutation A 4 FAT3 SNP 11 A G 91727199 91727199 Broad ETV6 2120 broad.mit.edu GRCh37 12 12037492 12037492 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000396373.4:c.1123G>C p.Gly375Arg p.G375R ENST00000396373 NM_001987.4 375 Gga/Cga 0 Missense_Mutation G 39 ETV6 SNP 12 G C 11928759 11928759 Broad OVCH1 341350 broad.mit.edu GRCh37 12 29629180 29629180 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000318184.5:c.1430C>T p.Ala477Val p.A477V ENST00000318184 NM_183378.2 477 gCt/gTt 0 Missense_Mutation G 34 OVCH1 SNP 12 G A 29520447 29520447 Broad SLC38A4 55089 broad.mit.edu GRCh37 12 47181808 47181808 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000447411.1:c.217G>A p.Gly73Arg p.G73R ENST00000447411 NM_001143824.1 73 Gga/Aga 0 Missense_Mutation C 23 SLC38A4 SNP 12 C T 45468075 45468075 Broad ACTR6 64431 broad.mit.edu GRCh37 12 100612251 100612251 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000188312.2:c.809T>G p.Leu270Trp p.L270W ENST00000188312 NM_022496.4 270 tTg/tGg 0 Missense_Mutation T 63 ACTR6 SNP 12 T G 99136382 99136382 Broad B3GNT4 79369 broad.mit.edu GRCh37 12 122691196 122691196 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000324189.4:c.398G>A p.Arg133Gln p.R133Q ENST00000324189 NM_030765.2 133 cGa/cAa 0 Missense_Mutation G 37 B3GNT4 SNP 12 G A 121257149 121257149 Broad UTP14C 9724 broad.mit.edu GRCh37 13 52604325 52604325 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000521776.2:c.1385C>T p.Ser462Phe p.S462F ENST00000521776 NM_021645.5 462 tCt/tTt 0 Missense_Mutation C 32 UTP14C SNP 13 C T 51502326 51502326 Broad DCT 1638 broad.mit.edu GRCh37 13 95121160 95121160 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000446125.1:c.435A>C p.Leu145Phe p.L145F ENST00000446125 NM_001129889.1 145 ttA/ttC 0 Missense_Mutation T 53 DCT SNP 13 T G 93919161 93919161 Broad CHD8 57680 broad.mit.edu GRCh37 14 21896413 21896413 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000399982.2:c.1216G>C p.Ala406Pro p.A406P ENST00000399982 NM_001170629.1 406 Gct/Cct 0 Missense_Mutation C 26 CHD8 SNP 14 C G 20966253 20966253 Broad DDX24 57062 broad.mit.edu GRCh37 14 94521519 94521519 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000330836.5:c.2001C>T p.Thr667= p.T667= ENST00000330836 NM_020414.3 667 acC/acT 0 Silent G 35 DDX24 SNP 14 G A 93591272 93591272 Broad CILP 8483 broad.mit.edu GRCh37 15 65499326 65499326 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000261883.4:c.218G>A p.Arg73Gln p.R73Q ENST00000261883 NM_003613.3 73 cGg/cAg 0 Missense_Mutation C 23 CILP SNP 15 C T 63286379 63286379 Broad CDH11 1009 broad.mit.edu GRCh37 16 65005940 65005940 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000268603.4:c.1418C>G p.Pro473Arg p.P473R ENST00000268603 NM_001797.2 473 cCa/cGa 0 Missense_Mutation G 47 CDH11 SNP 16 G C 63563441 63563441 Broad TAT 6898 broad.mit.edu GRCh37 16 71610312 71610312 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000355962.4:c.7C>T p.Pro3Ser p.P3S ENST00000355962 NM_000353.2 3 Cca/Tca 0 Missense_Mutation G 43 TAT SNP 16 G A 70167813 70167813 Broad TP53 7157 broad.mit.edu GRCh37 17 7578461 7578461 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.469G>T p.Val157Phe p.V157F ENST00000269305 NM_001126112.2 157 Gtc/Ttc 0 Missense_Mutation C 19 TP53 SNP 17 C A 7519186 7519186 Broad OMG 4974 broad.mit.edu GRCh37 17 29622592 29622592 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000247271.4:c.758C>T p.Pro253Leu p.P253L ENST00000247271 NM_002544.4 253 cCa/cTa 0 Missense_Mutation G 47 OMG SNP 17 G A 26646718 26646718 Broad EVI2A 2123 broad.mit.edu GRCh37 17 29645986 29645986 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000247270.3:c.115T>C p.Phe39Leu p.F39L ENST00000247270 NM_001003927.2 39 Ttt/Ctt 0 Missense_Mutation A 3 EVI2A SNP 17 A G 26670112 26670112 Broad KRTAP9-8 83901 broad.mit.edu GRCh37 17 39394650 39394650 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000254072.6:c.347G>C p.Cys116Ser p.C116S ENST00000254072 NM_031963.2 116 tGc/tCc 0 Missense_Mutation G 46 KRTAP9-8 SNP 17 G C 36648176 36648176 Broad ITGA3 3675 broad.mit.edu GRCh37 17 48149481 48149481 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000007722.7:c.1091C>G p.Pro364Arg p.P364R ENST00000007722 364 cCc/cGc 0 Missense_Mutation C 22 ITGA3 SNP 17 C G 45504480 45504480 Broad EPX 8288 broad.mit.edu GRCh37 17 56281620 56281620 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000225371.5:c.1984C>A p.Gln662Lys p.Q662K ENST00000225371 NM_000502.4 662 Cag/Aag 0 Missense_Mutation C 17 EPX SNP 17 C A 53636619 53636619 Broad TEX14 56155 broad.mit.edu GRCh37 17 56661918 56661918 + synonymous_variant Silent SNP A A G novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000240361.8:c.3132T>C p.His1044= p.H1044= ENST00000240361 1044 caT/caC 0 Silent A 16 TEX14 SNP 17 A G 54016917 54016917 Broad HELZ 9931 broad.mit.edu GRCh37 17 65199441 65199441 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000358691.5:c.366G>T p.Glu122Asp p.E122D ENST00000358691 NM_014877.3 122 gaG/gaT 0 Missense_Mutation C 20 HELZ SNP 17 C A 62629903 62629903 Broad ABCA8 10351 broad.mit.edu GRCh37 17 66902287 66902287 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000269080.2:c.2176G>T p.Asp726Tyr p.D726Y ENST00000269080 NM_007168.2 726 Gat/Tat 0 Missense_Mutation C 29 ABCA8 SNP 17 C A 64413882 64413882 Broad MYO5B 4645 broad.mit.edu GRCh37 18 47463665 47463665 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000285039.7:c.1855C>A p.Pro619Thr p.P619T ENST00000285039 NM_001080467.2 619 Ccc/Acc 0 Missense_Mutation G 44 MYO5B SNP 18 G T 45717663 45717663 Broad MAST3 23031 broad.mit.edu GRCh37 19 18235582 18235582 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000262811.6:c.989A>C p.Glu330Ala p.E330A ENST00000262811 NM_015016.1 330 gAg/gCg 0 Missense_Mutation A 11 MAST3 SNP 19 A C 18096582 18096582 Broad CAPN13 92291 broad.mit.edu GRCh37 2 30993313 30993313 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000295055.8:c.390C>G p.Phe130Leu p.F130L ENST00000295055 NM_144575.2 130 ttC/ttG 0 Missense_Mutation G 33 CAPN13 SNP 2 G C 30846817 30846817 Broad PLA2R1 22925 broad.mit.edu GRCh37 2 160833794 160833794 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000283243.7:c.2401+1G>A p.X801_splice ENST00000283243 NM_001195641.1 0 Splice_Site_SNP C 18 PLA2R1 SNP 2 C T 160542040 160542040 Broad ZDBF2 57683 broad.mit.edu GRCh37 2 207169948 207169948 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000374423.3:c.696T>C p.Asp232= p.D232= ENST00000374423 NM_020923.1 232 gaT/gaC 0 Silent T 51 ZDBF2 SNP 2 T C 206878193 206878193 Broad FASTKD2 22868 broad.mit.edu GRCh37 2 207636734 207636734 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000236980.6:c.1107G>C p.Val369= p.V369= ENST00000236980 NM_014929.3 369 gtG/gtC 0 Silent G 47 FASTKD2 SNP 2 G C 207344979 207344979 Broad KIF3B 9371 broad.mit.edu GRCh37 20 30914650 30914650 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000375712.3:c.1825G>T p.Glu609Ter p.E609* ENST00000375712 NM_004798.3 609 Gaa/Taa 0 Nonsense_Mutation G 41 KIF3B SNP 20 G T 30378311 30378311 Broad EPB41L1 2036 broad.mit.edu GRCh37 20 34797484 34797484 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000338074.2:c.1743C>T p.Gly581= p.G581= ENST00000338074 NM_012156.2 581 ggC/ggT 0 Silent C 27 EPB41L1 SNP 20 C T 34260898 34260898 Broad ZNF70 7621 broad.mit.edu GRCh37 22 24086108 24086108 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000341976.3:c.1220T>C p.Ile407Thr p.I407T ENST00000341976 NM_021916.2 407 aTt/aCt 0 Missense_Mutation A 4 ZNF70 SNP 22 A G 22416108 22416108 Broad SEC13 6396 broad.mit.edu GRCh37 3 10357041 10357041 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000350697.3:c.128G>A p.Arg43His p.R43H ENST00000350697 NM_183352.2 43 cGc/cAc 0 Missense_Mutation C 27 SEC13 SNP 3 C T 10332041 10332041 Broad NUP210 23225 broad.mit.edu GRCh37 3 13417904 13417904 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000254508.5:c.1180G>T p.Ala394Ser p.A394S ENST00000254508 NM_024923.3 394 Gct/Tct 0 Missense_Mutation C 25 NUP210 SNP 3 C A 13392904 13392904 Broad TGFBR2 7048 broad.mit.edu GRCh37 3 30729915 30729915 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000359013.4:c.1511G>A p.Arg504Gln p.R504Q ENST00000359013 NM_001024847.2 504 cGg/cAg 0 Missense_Mutation G 39 TGFBR2 SNP 3 G A 30704919 30704919 Broad C3orf30 152405 broad.mit.edu GRCh37 3 118865298 118865298 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000295622.1:c.262G>T p.Gly88Cys p.G88C ENST00000295622 NM_152539.2 88 Ggc/Tgc 0 Missense_Mutation G 47 C3orf30 SNP 3 G T 120347988 120347988 Broad COL6A5 256076 broad.mit.edu GRCh37 3 130159295 130159295 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000265379.6:c.6113A>G p.Gln2038Arg p.Q2038R ENST00000265379 NM_001278298.1 2038 cAa/cGa 0 Missense_Mutation A 5 COL6A5 SNP 3 A G 131641985 131641985 Broad COL6A6 131873 broad.mit.edu GRCh37 3 130290055 130290055 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000358511.6:c.2795C>T p.Thr932Met p.T932M ENST00000358511 NM_001102608.1 932 aCg/aTg 0 Missense_Mutation C 19 COL6A6 SNP 3 C T 131772745 131772745 Broad UGT2B7 7364 broad.mit.edu GRCh37 4 69974041 69974041 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000305231.7:c.1310+1G>C p.X437_splice ENST00000305231 NM_001074.2 0 Splice_Site_SNP G 40 UGT2B7 SNP 4 G C 70008630 70008630 Broad WDFY3 23001 broad.mit.edu GRCh37 4 85742596 85742596 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000295888.4:c.1232A>C p.Tyr411Ser p.Y411S ENST00000295888 NM_014991.4 411 tAc/tCc 0 Missense_Mutation T 57 WDFY3 SNP 4 T G 85961620 85961620 Broad CARTPT 9607 broad.mit.edu GRCh37 5 71015245 71015245 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000296777.4:c.125C>T p.Ser42Phe p.S42F ENST00000296777 NM_004291.3 42 tCt/tTt 0 Missense_Mutation C 32 CARTPT SNP 5 C T 71051001 71051001 Broad FBN2 2201 broad.mit.edu GRCh37 5 127712497 127712497 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000508053.1:c.1899C>T p.Ile633= p.I633= ENST00000508053 633 atC/atT 0 Silent G 45 FBN2 SNP 5 G A 127740396 127740396 Broad PCDHGC5 56097 broad.mit.edu GRCh37 5 140870891 140870891 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000252087.1:c.2084T>A p.Ile695Asn p.I695N ENST00000252087 NM_018929.2 695 aTt/aAt 0 Missense_Mutation T 52 PCDHGC5 SNP 5 T A 140851075 140851075 Broad CDK19 23097 broad.mit.edu GRCh37 6 110991680 110991680 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000368911.3:c.269A>G p.Asp90Gly p.D90G ENST00000368911 NM_015076.3 90 gAc/gGc 0 Missense_Mutation T 58 CDK19 SNP 6 T C 111098373 111098373 Broad RAPGEF5 9771 broad.mit.edu GRCh37 7 22184701 22184701 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000344041.6:c.1688G>A p.Arg563Gln p.R563Q ENST00000344041 NM_012294.3 563 cGa/cAa 0 Missense_Mutation C 31 RAPGEF5 SNP 7 C T 22151226 22151226 Broad EPDR1 54749 broad.mit.edu GRCh37 7 37960503 37960503 + 5_prime_UTR_variant 5'UTR SNP G G C novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000199448.4:c.-39G>C *13* ENST00000199448 NM_017549.4 0 Missense_Mutation G 43 EPDR1 SNP 7 G C 37927028 37927028 Broad FIGNL1 63979 broad.mit.edu GRCh37 7 50513667 50513667 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000419119.1:c.1319T>G p.Phe440Cys p.F440C ENST00000419119 440 tTt/tGt 0 Missense_Mutation A 1 FIGNL1 SNP 7 A C 50481161 50481161 Broad KIAA1324L 222223 broad.mit.edu GRCh37 7 86556230 86556230 + splice_region_variant,synonymous_variant Splice_Region SNP T T G novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000450689.2:c.1092A>C p.Thr364= p.T364= ENST00000450689 NM_001142749.2 364 acA/acC 0 Silent T 59 KIAA1324L SNP 7 T G 86394166 86394166 Broad TNC 3371 broad.mit.edu GRCh37 9 117844119 117844119 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000350763.4:c.2336A>T p.Tyr779Phe p.Y779F ENST00000350763 NM_002160.3 779 tAt/tTt 0 Missense_Mutation T 49 TNC SNP 9 T A 116883940 116883940 Broad OR1L8 138881 broad.mit.edu GRCh37 9 125330591 125330591 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2009-01 TCGA-61-2009-10 Unknown Unknown Unknown x x x ENST00000304865.2:c.166C>G p.Leu56Val p.L56V ENST00000304865 NM_001004454.1 56 Ctt/Gtt 0 Missense_Mutation G 33 OR1L8 SNP 9 G C 124370412 124370412 Broad ABR 29 hgsc.bcm.edu GRCh37 17 909373 909374 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000302538.5:c.2526dupC p.Ile843HisfsTer46 p.I843Hfs*46 ENST00000302538 NM_021962.3 842 -/C 0 Frame_Shift_Ins - 51 ABR INS 17 - G 856124 856123 Baylor AGBL5 60509 hgsc.bcm.edu GRCh37 2 27275887 27275887 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000360131.4:c.61C>A p.His21Asn p.H21N ENST00000360131 NM_021831.5 21 Cac/Aac 0 Missense_Mutation C 21 AGBL5 SNP 2 C A 27129391 27129391 Baylor AMOT 154796 hgsc.bcm.edu GRCh37 X 112024317 112024317 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371959.3:c.2270A>C p.Glu757Ala p.E757A ENST00000371959 NM_001113490.1 757 gAg/gCg 0 Missense_Mutation T 54 AMOT SNP 23 T G 111910973 111910973 Baylor ARHGEF17 9828 hgsc.bcm.edu GRCh37 11 73076590 73076590 + synonymous_variant Silent SNP C C T rs61749197 Unknown TCGA-24-1560-01 TCGA-24-1560-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000263674.3:c.5706C>T p.Pro1902= p.P1902= ENST00000263674 NM_014786.3 1902 ccC/ccT 0 Silent C 23 ARHGEF17 SNP 11 C T 72754238 72754238 Baylor ATP9B 374868 hgsc.bcm.edu GRCh37 18 77097312 77097312 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000426216.2:c.2146G>A p.Asp716Asn p.D716N ENST00000426216 NM_198531.3 716 Gac/Aac 0 Missense_Mutation G 37 ATP9B SNP 18 G A 75198300 75198300 Baylor BACH2 60468 hgsc.bcm.edu GRCh37 6 90718452 90718452 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000257749.4:c.112G>A p.Asp38Asn p.D38N ENST00000257749 NM_021813.2 38 Gac/Aac 0 Missense_Mutation C 29 BACH2 SNP 6 C T 90775173 90775173 Baylor CDH16 1014 hgsc.bcm.edu GRCh37 16 66943173 66943173 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000299752.4:c.2389A>C p.Ile797Leu p.I797L ENST00000299752 NM_001204744.1 797 Ata/Cta 0 Missense_Mutation T 52 CDH16 SNP 16 T G 65500674 65500674 Baylor DDX54 79039 hgsc.bcm.edu GRCh37 12 113600845 113600845 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000314045.7:c.2087del p.Ser696ThrfsTer20 p.S696Tfs*20 ENST00000314045 NM_001111322.1 696 aGc/ac 0 Frame_Shift_Del C 28 DDX54 DEL 12 C - 112085228 112085228 Baylor FLG 2312 hgsc.bcm.edu GRCh37 1 152286387 152286387 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368799.1:c.975G>A p.Ala325= p.A325= ENST00000368799 NM_002016.1 325 gcG/gcA 0 Silent C 19 FLG SNP 1 C T 150553011 150553011 Baylor FRS3 10817 hgsc.bcm.edu GRCh37 6 41740674 41740674 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373018.3:c.277C>T p.Arg93Trp p.R93W ENST00000373018 NM_006653.4 93 Cgg/Tgg 0 Missense_Mutation G 39 FRS3 SNP 6 G A 41848652 41848652 Baylor GABRA6 2559 hgsc.bcm.edu GRCh37 5 161116753 161116753 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000274545.5:c.641C>T p.Thr214Ile p.T214I ENST00000274545 214 aCa/aTa 0 Missense_Mutation C 17 GABRA6 SNP 5 C T 161049331 161049331 Baylor ITGA2B 3674 hgsc.bcm.edu GRCh37 17 42453451 42453451 + splice_donor_variant Splice_Site SNP A A T novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262407.5:c.2448+2T>A p.X816_splice ENST00000262407 NM_000419.3 0 Splice_Site_SNP A 14 ITGA2B SNP 17 A T 39808977 39808977 Baylor CCAR2 57805 hgsc.bcm.edu GRCh37 8 22475864 22475864 + splice_region_variant,synonymous_variant Splice_Region SNP C C G novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000308511.4:c.2076C>G p.Pro692= p.P692= ENST00000308511 692 ccC/ccG 0 Silent C 21 KIAA1967 SNP 8 C G 22531809 22531809 Baylor LRRC47 57470 hgsc.bcm.edu GRCh37 1 3697735 3697735 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000378251.1:c.1669G>T p.Asp557Tyr p.D557Y ENST00000378251 NM_020710.2 557 Gat/Tat 0 Missense_Mutation C 30 LRRC47 SNP 1 C A 3687595 3687595 Baylor MGAT4C 25834 hgsc.bcm.edu GRCh37 12 86373822 86373822 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000604798.1:c.682C>T p.Arg228Ter p.R228* ENST00000604798 228 Cga/Tga 0 Nonsense_Mutation G 37 MGAT4C SNP 12 G A 84897953 84897953 Baylor NLRC4 58484 hgsc.bcm.edu GRCh37 2 32475576 32475576 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000404025.2:c.1357C>T p.Arg453Ter p.R453* ENST00000404025 453 Cga/Tga 0 Nonsense_Mutation G 40 NLRC4 SNP 2 G A 32329080 32329080 Baylor NLRP8 126205 hgsc.bcm.edu GRCh37 19 56466195 56466195 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000291971.3:c.771C>T p.Ser257= p.S257= ENST00000291971 NM_176811.2 257 tcC/tcT 0 Silent C 23 NLRP8 SNP 19 C T 61158007 61158007 Baylor NRBP1 29959 hgsc.bcm.edu GRCh37 2 27662705 27662705 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000233557.3:c.976G>C p.Ala326Pro p.A326P ENST00000233557 326 Gca/Cca 0 Missense_Mutation G 34 NRBP1 SNP 2 G C 27516209 27516209 Baylor NUP210 23225 hgsc.bcm.edu GRCh37 3 13359231 13359231 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000254508.5:c.5614A>T p.Lys1872Ter p.K1872* ENST00000254508 NM_024923.3 1872 Aaa/Taa 0 Nonsense_Mutation T 63 NUP210 SNP 3 T A 13334231 13334231 Baylor CDHR1 92211 hgsc.bcm.edu GRCh37 10 85972942 85972942 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000372117.3:c.1878G>A p.Thr626= p.T626= ENST00000372117 NM_033100.3 626 acG/acA 0 Silent G 39 CDHR1 SNP 10 G A 85962922 85962922 Baylor PCDHB15 56121 hgsc.bcm.edu GRCh37 5 140626304 140626304 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000231173.3:c.1158G>A p.Gln386= p.Q386= ENST00000231173 NM_018935.2 386 caG/caA 0 Silent G 35 PCDHB15 SNP 5 G A 140606488 140606488 Baylor PHF12 57649 hgsc.bcm.edu GRCh37 17 27244452 27244452 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000332830.4:c.985A>G p.Met329Val p.M329V ENST00000332830 NM_001033561.1 329 Atg/Gtg 0 Missense_Mutation T 49 PHF12 SNP 17 T C 24268578 24268578 Baylor PRDM14 63978 hgsc.bcm.edu GRCh37 8 70967604 70967604 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000276594.2:c.1419T>C p.Ser473= p.S473= ENST00000276594 NM_024504.3 473 tcT/tcC 0 Silent A 3 PRDM14 SNP 8 A G 71130158 71130158 Baylor RBBP6 5930 hgsc.bcm.edu GRCh37 16 24578491 24578491 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000319715.4:c.1617C>T p.Ser539= p.S539= ENST00000319715 NM_006910.4 539 agC/agT 0 Silent C 27 RBBP6 SNP 16 C T 24485992 24485992 Baylor RHBDF2 79651 hgsc.bcm.edu GRCh37 17 74469136 74469136 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000313080.4:c.1948del p.Val650SerfsTer29 p.V650Sfs*29 ENST00000313080 NM_024599.5 650 Gtc/tc 0 Frame_Shift_Del C 18 RHBDF2 DEL 17 C - 71980731 71980731 Baylor ROR2 4920 hgsc.bcm.edu GRCh37 9 94486260 94486260 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000375708.3:c.2516C>T p.Pro839Leu p.P839L ENST00000375708 NM_004560.3 839 cCg/cTg 0 Missense_Mutation G 39 ROR2 SNP 9 G A 93526081 93526081 Baylor SLC6A5 9152 hgsc.bcm.edu GRCh37 11 20625937 20625937 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000525748.1:c.646A>T p.Arg216Trp p.R216W ENST00000525748 NM_004211.3 216 Agg/Tgg 0 Missense_Mutation A 11 SLC6A5 SNP 11 A T 20582513 20582513 Baylor STAT6 6778 hgsc.bcm.edu GRCh37 12 57496677 57496677 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000300134.3:c.1240G>C p.Val414Leu p.V414L ENST00000300134 NM_001178078.1 414 Gtc/Ctc 0 Missense_Mutation C 19 STAT6 SNP 12 C G 55782944 55782944 Baylor THBS3 7059 hgsc.bcm.edu GRCh37 1 155167871 155167871 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368378.3:c.2215G>C p.Asp739His p.D739H ENST00000368378 NM_007112.4 739 Gat/Cat 0 Missense_Mutation C 29 THBS3 SNP 1 C G 153434495 153434495 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577551 7577551 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.730G>T p.Gly244Cys p.G244C ENST00000269305 NM_001126112.2 244 Ggc/Tgc 0 Missense_Mutation C 22 TP53 SNP 17 C A 7518276 7518276 Baylor WRNIP1 56897 hgsc.bcm.edu GRCh37 6 2784566 2784566 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1560-01 TCGA-24-1560-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000380773.4:c.1651G>A p.Asp551Asn p.D551N ENST00000380773 NM_020135.2 551 Gac/Aac 0 Missense_Mutation G 33 WRNIP1 SNP 6 G A 2729565 2729565 Baylor COL11A1 1301 broad.mit.edu GRCh37 1 103470190 103470190 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000370096.3:c.1873G>A p.Gly625Ser p.G625S ENST00000370096 NM_001854.3 625 Ggt/Agt 0 Missense_Mutation C 24 COL11A1 SNP 1 C T 103242778 103242778 Broad TDRD5 163589 broad.mit.edu GRCh37 1 179609181 179609181 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000444136.1:c.1728C>T p.Phe576= p.F576= ENST00000444136 NM_001199089.1 576 ttC/ttT 0 Silent C 30 TDRD5 SNP 1 C T 177875804 177875804 Broad TPR 7175 broad.mit.edu GRCh37 1 186312598 186312598 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000367478.4:c.3610C>T p.Arg1204Ter p.R1204* ENST00000367478 NM_003292.2 1204 Cga/Tga 0 Nonsense_Mutation G 40 TPR SNP 1 G A 184579221 184579221 Broad HNRNPU 3192 broad.mit.edu GRCh37 1 245027114 245027114 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000283179.9:c.496C>T p.Pro166Ser p.P166S ENST00000283179 166 Ccg/Tcg 0 Missense_Mutation G 42 HNRNPU SNP 1 G A 243093737 243093737 Broad ITIH5 80760 broad.mit.edu GRCh37 10 7608315 7608315 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000256861.6:c.2205G>C p.Lys735Asn p.K735N ENST00000256861 NM_030569.6 735 aaG/aaC 0 Missense_Mutation C 32 ITIH5 SNP 10 C G 7648321 7648321 Broad PCDH15 65217 broad.mit.edu GRCh37 10 55582089 55582089 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000361849.3:c.5403C>T p.Ser1801= p.S1801= ENST00000361849 NM_001142768.1 1801 tcC/tcT 0 Silent G 39 PCDH15 SNP 10 G A 55252095 55252095 Broad RHOG 391 broad.mit.edu GRCh37 11 3849245 3849245 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000351018.4:c.124G>T p.Ala42Ser p.A42S ENST00000351018 NM_001665.3 42 Gcg/Tcg 0 Missense_Mutation C 27 RHOG SNP 11 C A 3805821 3805821 Broad CREB3L1 90993 broad.mit.edu GRCh37 11 46334468 46334468 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000529193.1:c.1029C>T p.Asn343= p.N343= ENST00000529193 NM_052854.3 343 aaC/aaT 0 Silent C 17 CREB3L1 SNP 11 C T 46291044 46291044 Broad C12orf40 283461 broad.mit.edu GRCh37 12 40076668 40076668 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000324616.5:c.942G>A p.Arg314= p.R314= ENST00000324616 NM_001031748.2 314 agG/agA 0 Silent G 41 C12orf40 SNP 12 G A 38362935 38362935 Broad BAG5 9529 broad.mit.edu GRCh37 14 104026804 104026804 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000337322.4:c.821G>C p.Cys274Ser p.C274S ENST00000337322 NM_001015049.2 274 tGc/tCc 0 Missense_Mutation C 25 BAG5 SNP 14 C G 103096557 103096557 Broad LCAT 3931 broad.mit.edu GRCh37 16 67974238 67974238 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000264005.5:c.892A>G p.Thr298Ala p.T298A ENST00000264005 NM_000229.1 298 Aca/Gca 0 Missense_Mutation T 59 LCAT SNP 16 T C 66531739 66531739 Broad WDR59 79726 broad.mit.edu GRCh37 16 74920294 74920294 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000262144.6:c.2420C>T p.Ala807Val p.A807V ENST00000262144 NM_030581.3 807 gCg/gTg 0 Missense_Mutation G 38 WDR59 SNP 16 G A 73477795 73477795 Broad ZFPM1 161882 broad.mit.edu GRCh37 16 88601258 88601258 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000319555.3:c.2892G>C p.Thr964= p.T964= ENST00000319555 NM_153813.2 964 acG/acC 0 Silent G 38 ZFPM1 SNP 16 G C 87128759 87128759 Broad TP53 7157 broad.mit.edu GRCh37 17 7576885 7576885 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.961A>T p.Lys321Ter p.K321* ENST00000269305 NM_001126112.2 321 Aaa/Taa 0 Nonsense_Mutation T 62 TP53 SNP 17 T A 7517610 7517610 Broad ALKBH5 54890 broad.mit.edu GRCh37 17 18088078 18088078 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000399138.4:c.521A>G p.Gln174Arg p.Q174R ENST00000399138 NM_017758.3 174 cAa/cGa 0 Missense_Mutation A 5 ALKBH5 SNP 17 A G 18028803 18028803 Broad CARD14 79092 broad.mit.edu GRCh37 17 78169003 78169003 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000573882.1:c.1370C>T p.Ser457Leu p.S457L ENST00000573882 457 tCg/tTg 0 Missense_Mutation C 31 CARD14 SNP 17 C T 75783598 75783598 Broad CD22 933 broad.mit.edu GRCh37 19 35828818 35828818 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000085219.5:c.879G>A p.Thr293= p.T293= ENST00000085219 NM_001771.3 293 acG/acA 0 Silent G 38 CD22 SNP 19 G A 40520658 40520658 Broad ZNF227 7770 broad.mit.edu GRCh37 19 44739757 44739757 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000313040.7:c.1174A>G p.Ser392Gly p.S392G ENST00000313040 NM_182490.1 392 Agt/Ggt 0 Missense_Mutation A 11 ZNF227 SNP 19 A G 49431597 49431597 Broad SIGLEC11 114132 broad.mit.edu GRCh37 19 50462666 50462666 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000447370.2:c.1008G>A p.Ala336= p.A336= ENST00000447370 NM_052884.2 336 gcG/gcA 0 Silent C 23 SIGLEC11 SNP 19 C T 55154478 55154478 Broad DUXA 503835 broad.mit.edu GRCh37 19 57666681 57666681 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000554048.2:c.498G>A p.Ala166= p.A166= ENST00000554048 NM_001012729.1 166 gcG/gcA 0 Silent C 19 DUXA SNP 19 C T 62358493 62358493 Broad CNTNAP5 129684 broad.mit.edu GRCh37 2 125521567 125521567 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000431078.1:c.2373C>T p.Asn791= p.N791= ENST00000431078 NM_130773.3 791 aaC/aaT 0 Silent C 19 CNTNAP5 SNP 2 C T 125238037 125238037 Broad SCN7A 6332 broad.mit.edu GRCh37 2 167262119 167262119 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000409855.1:c.5020G>A p.Glu1674Lys p.E1674K ENST00000409855 NM_002976.3 1674 Gaa/Aaa 0 Missense_Mutation C 30 SCN7A SNP 2 C T 166970365 166970365 Broad HAT1 8520 broad.mit.edu GRCh37 2 172779019 172779019 + splice_donor_variant Splice_Site SNP T T G novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000264108.4:c.7+2T>G p.X3_splice ENST00000264108 NM_003642.3 0 Splice_Site_SNP T 57 HAT1 SNP 2 T G 172487265 172487265 Broad ADAM23 8745 broad.mit.edu GRCh37 2 207424691 207424691 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000264377.3:c.1018C>T p.Gln340Ter p.Q340* ENST00000264377 NM_003812.3 340 Cag/Tag 0 Nonsense_Mutation C 25 ADAM23 SNP 2 C T 207132936 207132936 Broad STX16 8675 broad.mit.edu GRCh37 20 57251255 57251255 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000371141.4:c.886C>T p.Gln296Ter p.Q296* ENST00000371141 NM_001001433.2 296 Caa/Taa 0 Nonsense_Mutation C 29 STX16 SNP 20 C T 56684661 56684661 Broad POFUT2 23275 broad.mit.edu GRCh37 21 46705748 46705748 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000349485.5:c.227C>A p.Thr76Lys p.T76K ENST00000349485 NM_133635.4 76 aCg/aAg 0 Missense_Mutation G 40 POFUT2 SNP 21 G T 45530176 45530176 Broad PPM1F 9647 broad.mit.edu GRCh37 22 22285650 22285650 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000263212.5:c.761G>T p.Gly254Val p.G254V ENST00000263212 NM_014634.3 254 gGc/gTc 0 Missense_Mutation C 26 PPM1F SNP 22 C A 20615650 20615650 Broad NEFH 4744 broad.mit.edu GRCh37 22 29879555 29879555 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000310624.6:c.1075T>A p.Ser359Thr p.S359T ENST00000310624 NM_021076.3 359 Tcc/Acc 0 Missense_Mutation T 54 NEFH SNP 22 T A 28209555 28209555 Broad ACAD9 28976 broad.mit.edu GRCh37 3 128628866 128628866 + splice_region_variant,synonymous_variant Splice_Region SNP C C G novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000308982.7:c.1566C>G p.Thr522= p.T522= ENST00000308982 NM_014049.4 522 acC/acG 0 Silent C 21 ACAD9 SNP 3 C G 130111556 130111556 Broad PCDH18 54510 broad.mit.edu GRCh37 4 138451981 138451981 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000344876.4:c.1262C>A p.Ala421Asp p.A421D ENST00000344876 NM_019035.3 421 gCc/gAc 0 Missense_Mutation G 42 PCDH18 SNP 4 G T 138671431 138671431 Broad C7 730 broad.mit.edu GRCh37 5 40981517 40981517 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000313164.9:c.2374C>T p.Arg792Ter p.R792* ENST00000313164 NM_000587.2 792 Cga/Tga 0 Nonsense_Mutation C 23 C7 SNP 5 C T 41017274 41017274 Broad CCL28 56477 broad.mit.edu GRCh37 5 43381982 43381982 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000361115.4:c.364G>A p.Gly122Ser p.G122S ENST00000361115 NM_148672.2 122 Ggc/Agc 0 Missense_Mutation C 23 CCL28 SNP 5 C T 43417739 43417739 Broad PPP2CA 5515 broad.mit.edu GRCh37 5 133541780 133541780 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000481195.1:c.145C>T p.Arg49Ter p.R49* ENST00000481195 NM_002715.2 49 Cga/Tga 0 Nonsense_Mutation G 37 PPP2CA SNP 5 G A 133569679 133569679 Broad SAP30L 79685 broad.mit.edu GRCh37 5 153833055 153833055 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000297109.6:c.418G>T p.Ala140Ser p.A140S ENST00000297109 NM_024632.5 140 Gca/Tca 0 Missense_Mutation G 34 SAP30L SNP 5 G T 153813248 153813248 Broad FIG4 9896 broad.mit.edu GRCh37 6 110118031 110118031 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000230124.3:c.2523G>T p.Arg841Ser p.R841S ENST00000230124 NM_014845.5 841 agG/agT 0 Missense_Mutation G 44 FIG4 SNP 6 G T 110224724 110224724 Broad FAM214B 80256 broad.mit.edu GRCh37 9 35106541 35106541 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000378561.1:c.1053C>G p.Asn351Lys p.N351K ENST00000378561 351 aaC/aaG 0 Missense_Mutation G 36 KIAA1539 SNP 9 G C 35096541 35096541 Broad ASTN2 23245 broad.mit.edu GRCh37 9 119976858 119976858 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000361209.2:c.794G>A p.Arg265Gln p.R265Q ENST00000361209 NM_014010.4 265 cGg/cAg 0 Missense_Mutation C 23 ASTN2 SNP 9 C T 119016679 119016679 Broad ZNF41 7592 broad.mit.edu GRCh37 X 47308183 47308183 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000377065.4:c.986G>T p.Cys329Phe p.C329F ENST00000377065 NM_153380.2 329 tGt/tTt 0 Missense_Mutation C 17 ZNF41 SNP 23 C A 47193127 47193127 Broad PJA1 64219 broad.mit.edu GRCh37 X 68381193 68381193 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000361478.1:c.1889G>T p.Gly630Val p.G630V ENST00000361478 NM_145119.3 630 gGc/gTc 0 Missense_Mutation C 26 PJA1 SNP 23 C A 68297918 68297918 Broad TEX13A 56157 broad.mit.edu GRCh37 X 104464292 104464292 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown x x x ENST00000413579.1:c.586G>C p.Glu196Gln p.E196Q ENST00000413579 196 Gag/Cag 0 Missense_Mutation C 32 TEX13A SNP 23 C G 104350948 104350948 Broad NEK8 284086 broad.mit.edu GRCh37 17 27064673 27064710 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL GGCCCCCATCTGTCCTGCAGGGCAGAGAAGTCCGTGGC GGCCCCCATCTGTCCTGCAGGGCAGAGAAGTCCGTGGC - novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000268766.6:c.828-20_845del p.X276_splice ENST00000268766 NM_178170.2 0 Splice_Site_Del GGCCCCCATCTGTCCTGCAGGGCAGAGAAGTCCGTGGC 35 NEK8 DEL 17 - GGCCCCCATCTGTCCTGCAGGGCAGAGAAGTCCGTGGC 24088837 24088800 Broad CTSL 1514 broad.mit.edu GRCh37 9 90343265 90343265 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-24-2271-01 TCGA-24-2271-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000343150.5:c.350del p.Ser117LeufsTer10 p.S117Lfs*10 ENST00000343150 117 tCt/tt 0 Frame_Shift_Del C 32 CTSL1 DEL 9 - C 89533085 89533085 Broad SLC6A9 6536 broad.mit.edu GRCh37 1 44463353 44463353 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000360584.2:c.1985G>A p.Arg662Gln p.R662Q ENST00000360584 NM_201649.3 662 cGg/cAg 0 Missense_Mutation C 23 SLC6A9 SNP 1 C T 44235940 44235940 Broad SGIP1 84251 broad.mit.edu GRCh37 1 67206371 67206371 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000371037.4:c.2265G>A p.Lys755= p.K755= ENST00000371037 NM_032291.2 755 aaG/aaA 0 Silent G 33 SGIP1 SNP 1 G A 66978959 66978959 Broad STXBP3 6814 broad.mit.edu GRCh37 1 109301195 109301195 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000370008.3:c.322A>G p.Ile108Val p.I108V ENST00000370008 NM_007269.2 108 Att/Gtt 0 Missense_Mutation A 16 STXBP3 SNP 1 A G 109102718 109102718 Broad SELP 6403 broad.mit.edu GRCh37 1 169566334 169566334 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000263686.6:c.1786T>A p.Ser596Thr p.S596T ENST00000263686 NM_003005.3 596 Tcc/Acc 0 Missense_Mutation A 11 SELP SNP 1 A T 167832958 167832958 Broad RYR2 6262 broad.mit.edu GRCh37 1 237811894 237811894 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000366574.2:c.7493C>T p.Ala2498Val p.A2498V ENST00000366574 NM_001035.2 2498 gCg/gTg 0 Missense_Mutation C 27 RYR2 SNP 1 C T 235878517 235878517 Broad KIAA1217 56243 broad.mit.edu GRCh37 10 24810787 24810787 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000376454.3:c.2385G>T p.Glu795Asp p.E795D ENST00000376454 NM_019590.3 795 gaG/gaT 0 Missense_Mutation G 35 KIAA1217 SNP 10 G T 24850793 24850793 Broad SGMS1 259230 broad.mit.edu GRCh37 10 52071164 52071164 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000361781.2:c.753C>T p.Asp251= p.D251= ENST00000361781 NM_147156.3 251 gaC/gaT 0 Silent G 36 SGMS1 SNP 10 G A 51741170 51741170 Broad DPYSL4 10570 broad.mit.edu GRCh37 10 134008407 134008408 + missense_variant Missense_Mutation DNP GG GG AA novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000338492.4:c.372_373delinsAA p.Glu125Lys p.E125K ENST00000338492 NM_006426.2 124 cgGGag/cgAAag 0 Missense_Mutation GG 43 DPYSL4 DNP 10 GG AA 133858398 133858397 Broad NLRP10 338322 broad.mit.edu GRCh37 11 7984796 7984796 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000328600.2:c.247C>A p.Leu83Met p.L83M ENST00000328600 NM_176821.3 83 Ctg/Atg 0 Missense_Mutation G 35 NLRP10 SNP 11 G T 7941372 7941372 Broad RSF1 51773 broad.mit.edu GRCh37 11 77451976 77451976 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000308488.6:c.378C>T p.Leu126= p.L126= ENST00000308488 126 ctC/ctT 0 Silent G 33 RSF1 SNP 11 G A 77129624 77129624 Broad EXPH5 23086 broad.mit.edu GRCh37 11 108385374 108385374 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000265843.4:c.860T>C p.Phe287Ser p.F287S ENST00000265843 NM_015065.2 287 tTt/tCt 0 Missense_Mutation A 1 EXPH5 SNP 11 A G 107890584 107890584 Broad KCNA1 3736 broad.mit.edu GRCh37 12 5020560 5020560 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000382545.3:c.16G>C p.Gly6Arg p.G6R ENST00000382545 NM_000217.2 6 Ggg/Cgg 0 Missense_Mutation G 47 KCNA1 SNP 12 G C 4890821 4890821 Broad GPR162 27239 broad.mit.edu GRCh37 12 6936245 6936245 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000311268.3:c.1643T>C p.Val548Ala p.V548A ENST00000311268 NM_019858.1 548 gTt/gCt 0 Missense_Mutation T 60 GPR162 SNP 12 T C 6806506 6806506 Broad FOXJ2 55810 broad.mit.edu GRCh37 12 8200663 8200663 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000162391.3:c.1003C>G p.Pro335Ala p.P335A ENST00000162391 NM_018416.2 335 Cca/Gca 0 Missense_Mutation C 30 FOXJ2 SNP 12 C G 8091930 8091930 Broad KRT73 319101 broad.mit.edu GRCh37 12 53012064 53012064 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000305748.3:c.245C>T p.Ala82Val p.A82V ENST00000305748 NM_175068.2 82 gCt/gTt 0 Missense_Mutation G 34 KRT73 SNP 12 G A 51298331 51298331 Broad ZNF605 100289635 broad.mit.edu GRCh37 12 133509732 133509732 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000392321.3:c.25G>C p.Glu9Gln p.E9Q ENST00000392321 NM_001164715.1 9 Gag/Cag 0 Missense_Mutation C 29 ZNF605 SNP 12 C G 132019805 132019805 Broad LPAR6 10161 broad.mit.edu GRCh37 13 48986113 48986113 + synonymous_variant Silent SNP T T G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000378434.4:c.447A>C p.Ala149= p.A149= ENST00000378434 NM_005767.5 149 gcA/gcC 0 Silent T 59 LPAR6 SNP 13 T G 47884114 47884114 Broad DAAM1 23002 broad.mit.edu GRCh37 14 59821991 59821991 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000395125.1:c.2495C>G p.Ala832Gly p.A832G ENST00000395125 NM_014992.2 832 gCa/gGa 0 Missense_Mutation C 25 DAAM1 SNP 14 C G 58891744 58891744 Broad SPRED1 161742 broad.mit.edu GRCh37 15 38643268 38643268 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000299084.4:c.738C>G p.Val246= p.V246= ENST00000299084 NM_152594.2 246 gtC/gtG 0 Silent C 29 SPRED1 SNP 15 C G 36430560 36430560 Broad DISP2 85455 broad.mit.edu GRCh37 15 40662322 40662322 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000267889.3:c.4009C>T p.Arg1337Trp p.R1337W ENST00000267889 NM_033510.1 1337 Cgg/Tgg 0 Missense_Mutation C 27 DISP2 SNP 15 C T 38449614 38449614 Broad FOXB1 27023 broad.mit.edu GRCh37 15 60297434 60297434 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000396057.4:c.272C>G p.Pro91Arg p.P91R ENST00000396057 NM_012182.2 91 cCa/cGa 0 Missense_Mutation C 21 FOXB1 SNP 15 C G 58084726 58084726 Broad SV2B 9899 broad.mit.edu GRCh37 15 91801658 91801658 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000394232.1:c.792C>T p.Gly264= p.G264= ENST00000394232 NM_014848.4 264 ggC/ggT 0 Silent C 28 SV2B SNP 15 C T 89602662 89602662 Broad GSG1L 146395 broad.mit.edu GRCh37 16 27840263 27840263 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000447459.2:c.677C>T p.Ser226Phe p.S226F ENST00000447459 NM_001109763.1 226 tCc/tTc 0 Missense_Mutation G 41 GSG1L SNP 16 G A 27747764 27747764 Broad ZC3H18 124245 broad.mit.edu GRCh37 16 88666345 88666345 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000301011.5:c.1077C>G p.Val359= p.V359= ENST00000301011 NM_144604.3 359 gtC/gtG 0 Silent C 29 ZC3H18 SNP 16 C G 87193846 87193846 Broad TP53 7157 broad.mit.edu GRCh37 17 7578268 7578268 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.581T>G p.Leu194Arg p.L194R ENST00000269305 NM_001126112.2 194 cTt/cGt 0 Missense_Mutation A 3 TP53 SNP 17 A C 7518993 7518993 Broad LIG3 3980 broad.mit.edu GRCh37 17 33313103 33313103 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000378526.4:c.644C>T p.Ala215Val p.A215V ENST00000378526 NM_013975.3 215 gCc/gTc 0 Missense_Mutation C 26 LIG3 SNP 17 C T 30337216 30337216 Broad MYL4 4635 broad.mit.edu GRCh37 17 45299066 45299066 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000354968.1:c.332T>C p.Leu111Pro p.L111P ENST00000354968 NM_001002841.1 111 cTg/cCg 0 Missense_Mutation T 55 MYL4 SNP 17 T C 42654065 42654065 Broad LAMA1 284217 broad.mit.edu GRCh37 18 6992560 6992560 + missense_variant,splice_region_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000389658.3:c.5168A>C p.Lys1723Thr p.K1723T ENST00000389658 NM_005559.3 1723 aAg/aCg 0 Missense_Mutation T 56 LAMA1 SNP 18 T G 6982560 6982560 Broad ZNF236 7776 broad.mit.edu GRCh37 18 74637432 74637432 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000253159.8:c.3943G>A p.Val1315Ile p.V1315I ENST00000253159 NM_007345.3 1315 Gtt/Att 0 Missense_Mutation G 48 ZNF236 SNP 18 G A 72766420 72766420 Broad GNA11 2767 broad.mit.edu GRCh37 19 3119021 3119021 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000078429.4:c.705C>A p.Tyr235Ter p.Y235* ENST00000078429 NM_002067.2 235 taC/taA 0 Nonsense_Mutation C 19 GNA11 SNP 19 C A 3070021 3070021 Broad KMT2B 9757 broad.mit.edu GRCh37 19 36218499 36218499 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000222270.7:c.4278G>A p.Val1426= p.V1426= ENST00000222270 NM_014727.1 1426 gtG/gtA 0 Silent G 47 MLL4 SNP 19 G A 40910339 40910339 Broad CEACAM8 1088 broad.mit.edu GRCh37 19 43093708 43093708 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000244336.5:c.604C>T p.Leu202= p.L202= ENST00000244336 NM_001816.3 202 Cta/Tta 0 Silent G 33 CEACAM8 SNP 19 G A 47785548 47785548 Broad LTBP1 4052 broad.mit.edu GRCh37 2 33590523 33590523 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000404816.2:c.4664G>A p.Gly1555Glu p.G1555E ENST00000404816 1555 gGa/gAa 0 Missense_Mutation G 41 LTBP1 SNP 2 G A 33444027 33444027 Broad SLC20A1 6574 broad.mit.edu GRCh37 2 113414816 113414816 + missense_variant,splice_region_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000272542.3:c.776A>T p.Glu259Val p.E259V ENST00000272542 NM_005415.4 259 gAa/gTa 0 Missense_Mutation A 9 SLC20A1 SNP 2 A T 113131287 113131287 Broad PROC 5624 broad.mit.edu GRCh37 2 128177526 128177526 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000234071.3:c.8A>C p.Gln3Pro p.Q3P ENST00000234071 NM_000312.3 3 cAg/cCg 0 Missense_Mutation A 7 PROC SNP 2 A C 127893996 127893996 Broad OLA1 29789 broad.mit.edu GRCh37 2 175006591 175006591 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000284719.3:c.511G>C p.Ala171Pro p.A171P ENST00000284719 NM_013341.3 171 Gct/Cct 0 Missense_Mutation C 26 OLA1 SNP 2 C G 174714837 174714837 Broad ANKRD44 91526 broad.mit.edu GRCh37 2 197878307 197878307 + upstream_gene_variant 5'Flank SNP C C G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000424470 0 Missense_Mutation C 28 ANKRD44 SNP 2 C G 197586552 197586552 Broad SP140 11262 broad.mit.edu GRCh37 2 231175500 231175500 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000392045.3:c.2217G>C p.Pro739= p.P739= ENST00000392045 NM_007237.4 739 ccG/ccC 0 Silent G 39 SP140 SNP 2 G C 230883744 230883744 Broad SOGA1 140710 broad.mit.edu GRCh37 20 35444192 35444192 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000237536.4:c.1653C>T p.His551= p.H551= ENST00000237536 NM_080627.2 551 caC/caT 0 Silent G 40 C20orf117 SNP 20 G A 34877606 34877606 Broad ZBTB46 140685 broad.mit.edu GRCh37 20 62421516 62421516 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000245663.4:c.595G>T p.Glu199Ter p.E199* ENST00000245663 NM_025224.3 199 Gag/Tag 0 Nonsense_Mutation C 32 ZBTB46 SNP 20 C A 61891960 61891960 Broad MX2 4600 broad.mit.edu GRCh37 21 42754410 42754410 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000330714.3:c.651G>T p.Glu217Asp p.E217D ENST00000330714 NM_002463.1 217 gaG/gaT 0 Missense_Mutation G 35 MX2 SNP 21 G T 41676280 41676280 Broad ZC3H7B 23264 broad.mit.edu GRCh37 22 41726080 41726080 + synonymous_variant Silent SNP A A T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000352645.4:c.498A>T p.Arg166= p.R166= ENST00000352645 NM_017590.5 166 cgA/cgT 0 Silent A 11 ZC3H7B SNP 22 A T 40056026 40056026 Broad EFHB 151651 broad.mit.edu GRCh37 3 19921292 19921292 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000295824.9:c.2333C>T p.Ala778Val p.A778V ENST00000295824 NM_144715.3 778 gCa/gTa 0 Missense_Mutation G 46 EFHB SNP 3 G A 19896296 19896296 Broad C3orf35 339883 broad.mit.edu GRCh37 3 37476449 37476449 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000328376.5:c.341G>T p.Gly114Val p.G114V ENST00000328376 NM_178339.2 114 gGa/gTa 0 Missense_Mutation G 41 C3orf35 SNP 3 G T 37451453 37451453 Broad DENND6A 201627 broad.mit.edu GRCh37 3 57647188 57647188 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000311128.5:c.604C>G p.Pro202Ala p.P202A ENST00000311128 NM_152678.2 202 Cct/Gct 0 Missense_Mutation G 44 FAM116A SNP 3 G C 57622228 57622228 Broad CLDN18 51208 broad.mit.edu GRCh37 3 137717848 137717848 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000343735.4:c.138C>A p.Tyr46Ter p.Y46* ENST00000343735 NM_001002026.2 46 taC/taA 0 Nonsense_Mutation C 18 CLDN18 SNP 3 C A 139200538 139200538 Broad TLR6 10333 broad.mit.edu GRCh37 4 38829758 38829758 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000436693.2:c.1337G>C p.Arg446Thr p.R446T ENST00000436693 NM_006068.4 446 aGa/aCa 0 Missense_Mutation C 32 TLR6 SNP 4 C G 38506153 38506153 Broad FGA 2243 broad.mit.edu GRCh37 4 155506887 155506887 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000302053.3:c.1694C>A p.Pro565His p.P565H ENST00000302053 NM_000508.3 565 cCt/cAt 0 Missense_Mutation G 35 FGA SNP 4 G T 155726337 155726337 Broad PAIP1 10605 broad.mit.edu GRCh37 5 43539094 43539094 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000306846.3:c.778G>T p.Asp260Tyr p.D260Y ENST00000306846 NM_006451.4 260 Gat/Tat 0 Missense_Mutation C 30 PAIP1 SNP 5 C A 43574851 43574851 Broad ITGA1 3672 broad.mit.edu GRCh37 5 52183670 52183670 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000282588.6:c.797G>A p.Arg266Gln p.R266Q ENST00000282588 NM_181501.1 266 cGg/cAg 0 Missense_Mutation G 39 ITGA1 SNP 5 G A 52219427 52219427 Broad SKIV2L2 23517 broad.mit.edu GRCh37 5 54693247 54693247 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000230640.5:c.2185G>C p.Val729Leu p.V729L ENST00000230640 NM_015360.4 729 Gtc/Ctc 0 Missense_Mutation G 48 SKIV2L2 SNP 5 G C 54729004 54729004 Broad IL3 3562 broad.mit.edu GRCh37 5 131398379 131398379 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000296870.2:c.354C>A p.Ile118= p.I118= ENST00000296870 NM_000588.3 118 atC/atA 0 Silent C 29 IL3 SNP 5 C A 131426278 131426278 Broad PCDHB14 56122 broad.mit.edu GRCh37 5 140603463 140603463 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000239449.4:c.386A>T p.His129Leu p.H129L ENST00000239449 NM_018934.2 129 cAc/cTc 0 Missense_Mutation A 6 PCDHB14 SNP 5 A T 140583647 140583647 Broad ANKS1A 23294 broad.mit.edu GRCh37 6 34950588 34950588 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000360359.3:c.792A>C p.Gln264His p.Q264H ENST00000360359 NM_015245.2 264 caA/caC 0 Missense_Mutation A 1 ANKS1A SNP 6 A C 35058566 35058566 Broad KLC4 89953 broad.mit.edu GRCh37 6 43039324 43039324 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000259708.3:c.1329G>C p.Trp443Cys p.W443C ENST00000259708 NM_201523.1 443 tgG/tgC 0 Missense_Mutation G 41 KLC4 SNP 6 G C 43147302 43147302 Broad TNRC18 84629 broad.mit.edu GRCh37 7 5401578 5401578 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000430969.1:c.4482C>G p.Tyr1494Ter p.Y1494* ENST00000430969 NM_001080495.2 1494 taC/taG 0 Nonsense_Mutation G 48 TNRC18B SNP 7 G C 5368104 5368104 Broad SP4 6671 broad.mit.edu GRCh37 7 21470026 21470026 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000222584.3:c.1243C>G p.Gln415Glu p.Q415E ENST00000222584 NM_003112.3 415 Cag/Gag 0 Missense_Mutation C 17 SP4 SNP 7 C G 21436551 21436551 Broad HOXA1 3198 broad.mit.edu GRCh37 7 27135134 27135134 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000343060.4:c.398G>A p.Gly133Glu p.G133E ENST00000343060 NM_005522.4 133 gGa/gAa 0 Missense_Mutation C 30 HOXA1 SNP 7 C T 27101659 27101659 Broad NEUROD6 63974 broad.mit.edu GRCh37 7 31378207 31378207 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000297142.3:c.676G>C p.Asp226His p.D226H ENST00000297142 NM_022728.3 226 Gat/Cat 0 Missense_Mutation C 29 NEUROD6 SNP 7 C G 31344732 31344732 Broad BCL7B 9275 broad.mit.edu GRCh37 7 72966511 72966511 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000223368.2:c.154A>T p.Thr52Ser p.T52S ENST00000223368 NM_001707.3 52 Aca/Tca 0 Missense_Mutation T 58 BCL7B SNP 7 T A 72604447 72604447 Broad KIAA1324L 222223 broad.mit.edu GRCh37 7 86544109 86544109 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000450689.2:c.1661C>A p.Thr554Asn p.T554N ENST00000450689 NM_001142749.2 554 aCc/aAc 0 Missense_Mutation G 44 KIAA1324L SNP 7 G T 86382045 86382045 Broad CROT 54677 broad.mit.edu GRCh37 7 87027959 87027959 + stop_lost Nonstop_Mutation SNP A A G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000419147.2:c.1922A>G p.Ter641TrpextTer2 p.*641Wext*2 ENST00000419147 NM_001143935.1 641 tAg/tGg 0 Nonstop_Mutation A 15 CROT SNP 7 A G 86865895 86865895 Broad ZNF804B 219578 broad.mit.edu GRCh37 7 88965092 88965092 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000333190.4:c.2796A>G p.Val932= p.V932= ENST00000333190 NM_181646.2 932 gtA/gtG 0 Silent A 14 ZNF804B SNP 7 A G 88803028 88803028 Broad DLX5 1749 broad.mit.edu GRCh37 7 96653817 96653817 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000222598.4:c.119C>G p.Ser40Cys p.S40C ENST00000222598 NM_005221.5 40 tCt/tGt 0 Missense_Mutation G 33 DLX5 SNP 7 G C 96491753 96491753 Broad ABCA1 19 broad.mit.edu GRCh37 9 107599275 107599275 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000374736.3:c.1297A>T p.Met433Leu p.M433L ENST00000374736 NM_005502.3 433 Atg/Ttg 0 Missense_Mutation T 52 ABCA1 SNP 9 T A 106639096 106639096 Broad USP20 10868 broad.mit.edu GRCh37 9 132632056 132632056 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000315480.4:c.1498C>T p.Pro500Ser p.P500S ENST00000315480 500 Cca/Tca 0 Missense_Mutation C 26 USP20 SNP 9 C T 131671877 131671877 Broad ANAPC2 29882 broad.mit.edu GRCh37 9 140074648 140074648 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown x x x ENST00000323927.2:c.1875G>T p.Lys625Asn p.K625N ENST00000323927 NM_013366.3 625 aaG/aaT 0 Missense_Mutation C 20 ANAPC2 SNP 9 C A 139194469 139194469 Broad ADAMTS18 170692 broad.mit.edu GRCh37 16 77401459 77401470 + inframe_deletion In_Frame_Del DEL GCCGGGGTAGCC GCCGGGGTAGCC - novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000282849.5:c.646_657del p.Gly216_Gly219del p.G216_G219del ENST00000282849 NM_199355.2 216 GGCTACCCCGGC/- 0 In_Frame_Del GCCGGGGTAGCC 34 ADAMTS18 DEL 16 - GCCGGGGTAGCC 75958971 75958960 Broad FAM86B2 653333 broad.mit.edu GRCh37 8 12291593 12291595 + inframe_deletion In_Frame_Del DEL CTG CTG - novel Unknown TCGA-25-2401-01 TCGA-25-2401-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000262365.4:c.125_127del p.Ser42_Asp43delinsTyr p.S42_D43delinsY ENST00000262365 NM_001137610.1 42 tCAGat/tat 0 In_Frame_Del CTG 32 FAM86B2 DEL 8 - CTG 12335966 12335964 Broad SLX4 84464 genome.wustl.edu GRCh37 16 3647922 3647922 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294008.3:c.1242C>T p.Asp414= p.D414= ENST00000294008 NM_032444.2 414 gaC/gaT 0 Silent G 40 BTBD12 SNP 16 G A 3587923 3587923 WashU ZNF557 79230 genome.wustl.edu GRCh37 19 7083614 7083614 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000414706.1:c.1152C>T p.Ser384= p.S384= ENST00000414706 NM_024341.2 384 tcC/tcT 0 Silent C 24 ZNF557 SNP 19 C T 7034614 7034614 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578461 7578461 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.469G>T p.Val157Phe p.V157F ENST00000269305 NM_001126112.2 157 Gtc/Ttc 0 Missense_Mutation C 19 TP53 SNP 17 A A 7519186 7519186 WashU FBN3 84467 genome.wustl.edu GRCh37 19 8155128 8155128 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000600128.1:c.6039G>C p.Arg2013= p.R2013= ENST00000600128 2013 cgG/cgC 0 Missense_Mutation C 26 FBN3 SNP 19 C G 8061128 8061128 WashU AP1M2 10053 genome.wustl.edu GRCh37 19 10690457 10690457 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000250244.6:c.751C>T p.Arg251Cys p.R251C ENST00000250244 NM_005498.4 251 Cgc/Tgc 0 Missense_Mutation G 39 AP1M2 SNP 19 G A 10551457 10551457 WashU FAM86B1 85002 genome.wustl.edu GRCh37 8 12044010 12044010 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 C C C T C T Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000448228.2:c.491G>A p.Arg164Gln p.R164Q ENST00000448228 NM_001083537.1 164 cGa/cAa 0 Missense_Mutation C 31 FAM86B1 SNP 8 C T 12081419 12081419 WashU NOTCH3 4854 genome.wustl.edu GRCh37 19 15276882 15276882 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263388.2:c.5383C>A p.Leu1795Met p.L1795M ENST00000263388 NM_000435.2 1795 Ctg/Atg 0 Missense_Mutation G 34 NOTCH3 SNP 19 G T 15137882 15137882 WashU NOTCH3 4854 genome.wustl.edu GRCh37 19 15278142 15278142 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263388.2:c.5280C>G p.Ile1760Met p.I1760M ENST00000263388 NM_000435.2 1760 atC/atG 0 Missense_Mutation G 41 NOTCH3 SNP 19 G C 15139142 15139142 WashU NOTCH3 4854 genome.wustl.edu GRCh37 19 15281228 15281228 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263388.2:c.5028C>T p.Phe1676= p.F1676= ENST00000263388 NM_000435.2 1676 ttC/ttT 0 Silent G 41 NOTCH3 SNP 19 G A 15142228 15142228 WashU CYP4F11 57834 genome.wustl.edu GRCh37 19 16025127 16025127 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000402119.4:c.1385C>T p.Ser462Leu p.S462L ENST00000402119 NM_021187.3 462 tCg/tTg 0 Missense_Mutation G 37 CYP4F11 SNP 19 G A 15886127 15886127 WashU NT5C1B 93034 genome.wustl.edu GRCh37 2 18768370 18768370 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359846.2:c.190C>T p.Arg64Cys p.R64C ENST00000359846 NM_001199086.1 64 Cgc/Tgc 0 Missense_Mutation G 40 NT5C1B SNP 2 G A 18631851 18631851 WashU NCOA6 23054 genome.wustl.edu GRCh37 20 33330015 33330015 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374796.2:c.4045T>G p.Ser1349Ala p.S1349A ENST00000374796 1349 Tca/Gca 0 Missense_Mutation A 9 NCOA6 SNP 20 A C 32793676 32793676 WashU GBA2 57704 genome.wustl.edu GRCh37 9 35738807 35738807 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378103.3:c.1889G>A p.Arg630Gln p.R630Q ENST00000378103 NM_020944.2 630 cGg/cAg 0 Missense_Mutation C 23 GBA2 SNP 9 T T 35728807 35728807 WashU SPATA31A3 727830 genome.wustl.edu GRCh37 9 40705599 40705599 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000356699.5:c.3256G>A p.Glu1086Lys p.E1086K ENST00000356699 NM_001083124.1 1086 Gag/Aag 0 Missense_Mutation G 37 FAM75A3 SNP 9 A A 40695599 40695599 WashU TCEB3B 51224 genome.wustl.edu GRCh37 18 44560014 44560014 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332567.4:c.1622C>A p.Pro541Gln p.P541Q ENST00000332567 NM_016427.2 541 cCg/cAg 0 Missense_Mutation G 39 TCEB3B SNP 18 G T 42814012 42814012 WashU PSG1 5669 genome.wustl.edu GRCh37 19 43376194 43376194 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244296.2:c.434A>G p.Glu145Gly p.E145G ENST00000244296 NM_006905.2 145 gAg/gGg 0 Missense_Mutation T 54 PSG1 SNP 19 T C 48068034 48068034 WashU RP11-167P23.2 genome.wustl.edu GRCh37 X 55681240 55681240 + non_coding_transcript_exon_variant RNA SNP T T A novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000513415.1:n.124A>T *42* ENST00000513415 0 Missense_Mutation T 54 ENSG00000169164 SNP 23 T A 55697965 55697965 WashU OR8J1 219477 genome.wustl.edu GRCh37 11 56128009 56128009 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303039.3:c.287A>C p.Glu96Ala p.E96A ENST00000303039 NM_001005205.2 96 gAa/gCa 0 Missense_Mutation A 9 OR8J1 SNP 11 A C 55884585 55884585 WashU OR8U1 219417 genome.wustl.edu GRCh37 11 56143809 56143809 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302270.1:c.710C>A p.Ala237Asp p.A237D ENST00000302270 NM_001005204.1 237 gCt/gAt 0 Missense_Mutation C 28 OR8U1 SNP 11 C A 55900385 55900385 WashU MRPS17 51373 genome.wustl.edu GRCh37 7 55991392 55991392 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000426595.1:c.268G>C p.Gly90Arg p.G90R ENST00000426595 90 Ggt/Cgt 0 Missense_Mutation G 35 ZNF713 SNP 7 G C 55958886 55958886 WashU TRAPPC13 80006 genome.wustl.edu GRCh37 5 64957893 64957893 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000438419.2:c.914A>G p.Asp305Gly p.D305G ENST00000438419 305 gAt/gGt 0 Missense_Mutation A 12 C5orf44 SNP 5 A G 64993649 64993649 WashU DPP3 10072 genome.wustl.edu GRCh37 11 66272241 66272241 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360510.2:c.2037T>G p.Leu679= p.L679= ENST00000360510 679 ctT/ctG 0 Silent T 63 DPP3 SNP 11 T G 66028817 66028817 WashU GMCL1 64395 genome.wustl.edu GRCh37 2 70064744 70064744 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282570.3:c.326A>G p.Asp109Gly p.D109G ENST00000282570 NM_178439.3 109 gAc/gGc 0 Missense_Mutation A 10 GMCL1 SNP 2 A G 69918248 69918248 WashU KRR1 11103 genome.wustl.edu GRCh37 12 75897755 75897755 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000229214.4:c.760C>T p.Arg254Cys p.R254C ENST00000229214 NM_007043.6 254 Cgc/Tgc 0 Missense_Mutation G 40 KRR1 SNP 12 G A 74184022 74184022 WashU CARD14 79092 genome.wustl.edu GRCh37 17 78178061 78178061 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000573882.1:c.2319C>T p.Ile773= p.I773= ENST00000573882 773 atC/atT 0 Silent C 31 CARD14 SNP 17 C T 75792656 75792656 WashU PPEF2 5470 genome.wustl.edu GRCh37 4 76811270 76811270 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286719.7:c.257G>A p.Arg86His p.R86H ENST00000286719 NM_006239.2 86 cGc/cAc 0 Missense_Mutation C 27 PPEF2 SNP 4 C T 77030294 77030294 WashU SEMA3C 10512 genome.wustl.edu GRCh37 7 80432078 80432078 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265361.3:c.819G>C p.Leu273= p.L273= ENST00000265361 NM_006379.3 273 ctG/ctC 0 Silent C 25 SEMA3C SNP 7 C G 80270014 80270014 WashU KRCC1 51315 genome.wustl.edu GRCh37 2 88327856 88327856 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000347055.3:c.227A>G p.Asn76Ser p.N76S ENST00000347055 NM_016618.1 76 aAt/aGt 0 Missense_Mutation T 52 KRCC1 SNP 2 T C 88108971 88108971 WashU MMRN1 22915 genome.wustl.edu GRCh37 4 90857010 90857010 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394980.1:c.2179G>A p.Gly727Ser p.G727S ENST00000394980 727 Ggc/Agc 0 Missense_Mutation G 47 MMRN1 SNP 4 G A 91076033 91076033 WashU MINA 84864 genome.wustl.edu GRCh37 3 97668726 97668726 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333396.7:c.1022C>G p.Pro341Arg p.P341R ENST00000333396 NM_001042533.2 341 cCt/cGt 0 Missense_Mutation G 35 MINA SNP 3 G C 99151416 99151416 WashU TBC1D8B 54885 genome.wustl.edu GRCh37 X 106064217 106064217 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357242.5:c.352A>G p.Lys118Glu p.K118E ENST00000357242 NM_017752.2 118 Aaa/Gaa 0 Missense_Mutation A 1 TBC1D8B SNP 23 A G 105950873 105950873 WashU PHTF1 10745 genome.wustl.edu GRCh37 1 114249243 114249243 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369604.1:c.1371G>T p.Leu457Phe p.L457F ENST00000369604 457 ttG/ttT 0 Missense_Mutation C 21 PHTF1 SNP 1 C A 114050766 114050766 WashU MTHFD1L 25902 genome.wustl.edu GRCh37 6 151336686 151336686 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367321.3:c.2443G>C p.Glu815Gln p.E815Q ENST00000367321 NM_001242768.1 815 Gag/Cag 0 Missense_Mutation G 45 MTHFD1L SNP 6 G C 151378379 151378379 WashU GABRQ 55879 genome.wustl.edu GRCh37 X 151821311 151821311 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370306.2:c.1466A>G p.His489Arg p.H489R ENST00000370306 NM_018558.3 489 cAt/cGt 0 Missense_Mutation A 8 GABRQ SNP 23 A G 151571967 151571967 WashU GRB14 2888 genome.wustl.edu GRCh37 2 165358822 165358822 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263915.3:c.1047T>A p.Asn349Lys p.N349K ENST00000263915 NM_004490.2 349 aaT/aaA 0 Missense_Mutation A 4 GRB14 SNP 2 A T 165067068 165067068 WashU SLITRK3 22865 genome.wustl.edu GRCh37 3 164906391 164906391 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000475390.1:c.2228T>A p.Ile743Asn p.I743N ENST00000475390 743 aTc/aAc 0 Missense_Mutation A 12 SLITRK3 SNP 3 A T 166389085 166389085 WashU ABCC5 10057 genome.wustl.edu GRCh37 3 183639181 183639181 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334444.6:c.4221G>A p.Glu1407= p.E1407= ENST00000334444 NM_005688.2 1407 gaG/gaA 0 Silent C 20 ABCC5 SNP 3 C T 185121875 185121875 WashU CREBBP 1387 genome.wustl.edu GRCh37 16 3820936 3820942 + frameshift_variant Frame_Shift_Del DEL GAGGCCC GAGGCCC - novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 GAGGCCC GAGGCCC GAGGCCC - GAGGCCC GAGGCCC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262367.5:c.2509_2515del p.Gly837ArgfsTer10 p.G837Rfs*10 ENST00000262367 NM_004380.2 837 GGGCCTCag/ag 0 Frame_Shift_Del GAGGCCC 45 CREBBP DEL 16 GAGGCCC - 3760943 3760937 WashU MMP19 4327 genome.wustl.edu GRCh37 12 56231082 56231084 + inframe_deletion In_Frame_Del DEL AAC AAC - novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 AAC AAC AAC - AAC AAC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322569.4:c.1263_1265del p.Leu421del p.L421del ENST00000322569 NM_002429.5 421 ttGTTt/ttt 0 In_Frame_Del AAC 1 MMP19 DEL 12 AAC - 54517351 54517349 WashU DPYD 1806 genome.wustl.edu GRCh37 1 98157280 98157280 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000370192.3:c.755G>T p.Gly252Val p.G252V ENST00000370192 NM_000110.3 252 gGt/gTt 0 Missense_Mutation C 18 DPYD SNP 1 C A 97929868 97929868 WashU FMO5 2330 genome.wustl.edu GRCh37 1 146696572 146696572 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000254090.4:c.50C>A p.Ser17Tyr p.S17Y ENST00000254090 NM_001461.3 17 tCt/tAt 0 Missense_Mutation G 33 FMO5 SNP 1 G T 145163196 145163196 WashU BCL9 607 genome.wustl.edu GRCh37 1 147091720 147091720 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA dbGAP Illumina GAIIx ENST00000234739.3:c.1759C>G p.Leu587Val p.L587V ENST00000234739 NM_004326.3 587 Ctt/Gtt 0 Missense_Mutation C 32 BCL9 SNP 1 C G 145558344 145558344 WashU CHRM3 1131 genome.wustl.edu GRCh37 1 240071910 240071910 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000255380.4:c.1159G>C p.Asp387His p.D387H ENST00000255380 NM_000740.2 387 Gac/Cac 0 Missense_Mutation G 41 CHRM3 SNP 1 G C 238138533 238138533 WashU LUZP4 51213 genome.wustl.edu GRCh37 X 114524416 114524416 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000371920.3:c.91G>T p.Asp31Tyr p.D31Y ENST00000371920 NM_016383.3 31 Gac/Tac 0 Missense_Mutation G 35 LUZP4 SNP 23 G T 114430672 114430672 WashU SDC3 9672 genome.wustl.edu GRCh37 1 31349816 31349816 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339394.6:c.453G>A p.Glu151= p.E151= ENST00000339394 NM_014654.3 151 gaG/gaA 0 Silent C 28 SDC3 SNP 1 C T 31122403 31122403 WashU NOTCH3 4854 genome.wustl.edu GRCh37 19 15281296 15281296 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263388.2:c.4960C>T p.Leu1654= p.L1654= ENST00000263388 NM_000435.2 1654 Ctg/Ttg 0 Silent G 34 NOTCH3 SNP 19 G A 15142296 15142296 WashU SON 6651 genome.wustl.edu GRCh37 21 34932243 34932243 + intron_variant Intron SNP T T A novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356577.4:c.6657+162T>A *2219* ENST00000356577 NM_138927.2 0 Missense_Mutation T 64 SON SNP 21 T A 33854113 33854113 WashU FGF5 2250 genome.wustl.edu GRCh37 4 81188190 81188190 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0724-01 TCGA-13-0724-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312465.7:c.212G>T p.Gly71Val p.G71V ENST00000312465 NM_004464.3 71 gGa/gTa 0 Missense_Mutation G 41 FGF5 SNP 4 G T 81407214 81407214 WashU EXTL1 2134 broad.mit.edu GRCh37 1 26349225 26349225 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000374280.3:c.88C>T p.Leu30Phe p.L30F ENST00000374280 NM_004455.2 30 Ctc/Ttc 0 Missense_Mutation C 32 EXTL1 SNP 1 C T 26221812 26221812 Broad MRPS15 64960 broad.mit.edu GRCh37 1 36921912 36921912 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000373116.5:c.512G>A p.Arg171His p.R171H ENST00000373116 NM_031280.3 171 cGt/cAt 0 Missense_Mutation C 19 MRPS15 SNP 1 C T 36694499 36694499 Broad GBP6 163351 broad.mit.edu GRCh37 1 89835207 89835207 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000370456.4:c.293C>A p.Thr98Asn p.T98N ENST00000370456 NM_198460.2 98 aCc/aAc 0 Missense_Mutation C 18 GBP6 SNP 1 C A 89607795 89607795 Broad ABCA4 24 broad.mit.edu GRCh37 1 94495051 94495051 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000370225.3:c.4489A>T p.Thr1497Ser p.T1497S ENST00000370225 NM_000350.2 1497 Acc/Tcc 0 Missense_Mutation T 59 ABCA4 SNP 1 T A 94267639 94267639 Broad LPPR4 9890 broad.mit.edu GRCh37 1 99767345 99767345 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000370185.3:c.858T>A p.Phe286Leu p.F286L ENST00000370185 NM_014839.4 286 ttT/ttA 0 Missense_Mutation T 61 LPPR4 SNP 1 T A 99539933 99539933 Broad AMIGO1 57463 broad.mit.edu GRCh37 1 110050740 110050740 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000369864.4:c.795G>A p.Leu265= p.L265= ENST00000369864 265 ctG/ctA 0 Silent C 29 AMIGO1 SNP 1 C T 109852263 109852263 Broad RBM15 64783 broad.mit.edu GRCh37 1 110883320 110883320 + synonymous_variant Silent SNP A A G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000369784.3:c.1293A>G p.Lys431= p.K431= ENST00000369784 NM_022768.4 431 aaA/aaG 0 Silent A 4 RBM15 SNP 1 A G 110684843 110684843 Broad CTTNBP2NL 55917 broad.mit.edu GRCh37 1 112997102 112997102 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000271277.6:c.362G>T p.Arg121Leu p.R121L ENST00000271277 NM_018704.2 121 cGg/cTg 0 Missense_Mutation G 39 CTTNBP2NL SNP 1 G T 112798625 112798625 Broad IGSF3 3321 broad.mit.edu GRCh37 1 117122187 117122187 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000369483.1:c.3221G>C p.Arg1074Pro p.R1074P ENST00000369483 NM_001542.3 1074 cGc/cCc 0 Missense_Mutation C 27 IGSF3 SNP 1 C G 116923710 116923710 Broad TCHH 7062 broad.mit.edu GRCh37 1 152084052 152084052 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000368804.1:c.1641G>A p.Glu547= p.E547= ENST00000368804 NM_007113.3 547 gaG/gaA 0 Silent C 28 TCHH SNP 1 C T 150350676 150350676 Broad GON4L 54856 broad.mit.edu GRCh37 1 155743001 155743001 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000437809.1:c.2351C>T p.Ala784Val p.A784V ENST00000437809 784 gCg/gTg 0 Missense_Mutation G 38 GON4L SNP 1 G A 154009625 154009625 Broad SELE 6401 broad.mit.edu GRCh37 1 169701925 169701925 + synonymous_variant Silent SNP T T A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000333360.7:c.252A>T p.Val84= p.V84= ENST00000333360 NM_000450.2 84 gtA/gtT 0 Silent T 53 SELE SNP 1 T A 167968549 167968549 Broad ZBTB41 360023 broad.mit.edu GRCh37 1 197169101 197169101 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000367405.4:c.503T>G p.Ile168Arg p.I168R ENST00000367405 NM_194314.2 168 aTa/aGa 0 Missense_Mutation A 16 ZBTB41 SNP 1 A C 195435724 195435724 Broad ATP2B4 493 broad.mit.edu GRCh37 1 203708819 203708819 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000357681.5:c.3455A>T p.Glu1152Val p.E1152V ENST00000357681 NM_001684.4 1152 gAg/gTg 0 Missense_Mutation A 11 ATP2B4 SNP 1 A T 201975442 201975442 Broad PIGR 5284 broad.mit.edu GRCh37 1 207106486 207106486 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000356495.4:c.1731G>T p.Lys577Asn p.K577N ENST00000356495 NM_002644.3 577 aaG/aaT 0 Missense_Mutation C 24 PIGR SNP 1 C A 205173109 205173109 Broad C4BPA 722 broad.mit.edu GRCh37 1 207317319 207317319 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000367070.3:c.1601A>T p.Glu534Val p.E534V ENST00000367070 NM_000715.3 534 gAg/gTg 0 Missense_Mutation A 11 C4BPA SNP 1 A T 205383942 205383942 Broad ARHGAP21 57584 broad.mit.edu GRCh37 10 24911660 24911660 + splice_donor_variant Splice_Site SNP A A T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000396432.2:c.525+2T>A p.X175_splice ENST00000396432 NM_020824.3 0 Splice_Site_SNP A 14 ARHGAP21 SNP 10 A T 24951666 24951666 Broad SHOC2 8036 broad.mit.edu GRCh37 10 112724807 112724807 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000369452.4:c.691C>T p.Pro231Ser p.P231S ENST00000369452 NM_007373.3 231 Cct/Tct 0 Missense_Mutation C 18 SHOC2 SNP 10 C T 112714797 112714797 Broad KIAA1549L 25758 broad.mit.edu GRCh37 11 33589733 33589733 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000321505.4:c.3299G>A p.Arg1100Gln p.R1100Q ENST00000321505 1100 cGg/cAg 0 Missense_Mutation G 39 C11orf41 SNP 11 G A 33546309 33546309 Broad OR4C13 283092 broad.mit.edu GRCh37 11 49974323 49974323 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000555099.1:c.349G>T p.Ala117Ser p.A117S ENST00000555099 NM_001001955.2 117 Gcc/Tcc 0 Missense_Mutation G 42 OR4C13 SNP 11 G T 49930899 49930899 Broad AHNAK 79026 broad.mit.edu GRCh37 11 62284754 62284754 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000378024.4:c.17135T>C p.Ile5712Thr p.I5712T ENST00000378024 NM_001620.2 5712 aTc/aCc 0 Missense_Mutation A 12 AHNAK SNP 11 A G 62041330 62041330 Broad NAALADL1 10004 broad.mit.edu GRCh37 11 64812752 64812752 + synonymous_variant Silent SNP A A G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000358658.3:c.2214T>C p.Ala738= p.A738= ENST00000358658 NM_005468.2 738 gcT/gcC 0 Silent A 7 NAALADL1 SNP 11 A G 64569328 64569328 Broad TBX10 347853 broad.mit.edu GRCh37 11 67402615 67402615 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000335385.3:c.127T>C p.Ser43Pro p.S43P ENST00000335385 NM_005995.4 43 Tct/Cct 0 Missense_Mutation A 11 TBX10 SNP 11 A G 67159191 67159191 Broad GDF3 9573 broad.mit.edu GRCh37 12 7848321 7848321 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000329913.3:c.4C>A p.Leu2Ile p.L2I ENST00000329913 NM_020634.1 2 Ctt/Att 0 Missense_Mutation G 34 GDF3 SNP 12 G T 7739588 7739588 Broad PKP2 5318 broad.mit.edu GRCh37 12 33031177 33031177 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000070846.6:c.637C>T p.His213Tyr p.H213Y ENST00000070846 NM_004572.3 213 Cac/Tac 0 Missense_Mutation G 47 PKP2 SNP 12 G A 32922444 32922444 Broad LRRK2 120892 broad.mit.edu GRCh37 12 40696669 40696669 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000298910.7:c.3575T>C p.Ile1192Thr p.I1192T ENST00000298910 NM_198578.3 1192 aTt/aCt 0 Missense_Mutation T 52 LRRK2 SNP 12 T C 38982936 38982936 Broad SHMT2 6472 broad.mit.edu GRCh37 12 57627397 57627397 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000328923.3:c.1075C>T p.Arg359Trp p.R359W ENST00000328923 NM_005412.5 359 Cgg/Tgg 0 Missense_Mutation C 31 SHMT2 SNP 12 C T 55913664 55913664 Broad TMTC2 160335 broad.mit.edu GRCh37 12 83359496 83359496 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000321196.3:c.1842G>T p.Lys614Asn p.K614N ENST00000321196 NM_152588.1 614 aaG/aaT 0 Missense_Mutation G 34 TMTC2 SNP 12 G T 81883627 81883627 Broad SCYL2 55681 broad.mit.edu GRCh37 12 100720404 100720404 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000360820.2:c.1514G>A p.Arg505His p.R505H ENST00000360820 NM_017988.4 505 cGt/cAt 0 Missense_Mutation G 40 SCYL2 SNP 12 G A 99244535 99244535 Broad SSH1 54434 broad.mit.edu GRCh37 12 109205075 109205075 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000326495.5:c.431G>A p.Arg144Gln p.R144Q ENST00000326495 NM_018984.3 144 cGa/cAa 0 Missense_Mutation C 31 SSH1 SNP 12 C T 107729204 107729204 Broad TBX3 6926 broad.mit.edu GRCh37 12 115120927 115120927 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000257566.3:c.79G>T p.Asp27Tyr p.D27Y ENST00000257566 NM_016569.3 27 Gac/Tac 0 Missense_Mutation C 30 TBX3 SNP 12 C A 113605310 113605310 Broad NBEA 26960 broad.mit.edu GRCh37 13 35770278 35770278 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000400445.3:c.5205T>C p.Ile1735= p.I1735= ENST00000400445 NM_015678.4 1735 atT/atC 0 Silent T 61 NBEA SNP 13 T C 34668278 34668278 Broad REC8 9985 broad.mit.edu GRCh37 14 24646741 24646741 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000311457.3:c.805C>A p.Leu269Ile p.L269I ENST00000311457 269 Ctc/Atc 0 Missense_Mutation C 20 REC8 SNP 14 C A 23716581 23716581 Broad LRFN5 145581 broad.mit.edu GRCh37 14 42361139 42361139 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000298119.4:c.2072C>T p.Thr691Met p.T691M ENST00000298119 NM_152447.3 691 aCg/aTg 0 Missense_Mutation C 19 LRFN5 SNP 14 C T 41430889 41430889 Broad DIO3 1735 broad.mit.edu GRCh37 14 102028629 102028629 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000510508.4:c.796A>G p.Ser266Gly p.S266G ENST00000510508 266 Agt/Ggt 0 Missense_Mutation A 11 DIO3 SNP 14 A G 101098382 101098382 Broad RYR3 6263 broad.mit.edu GRCh37 15 33988678 33988678 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000389232.4:c.6120G>T p.Met2040Ile p.M2040I ENST00000389232 NM_001036.3 2040 atG/atT 0 Missense_Mutation G 45 RYR3 SNP 15 G T 31775970 31775970 Broad EHD4 30844 broad.mit.edu GRCh37 15 42192955 42192955 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000220325.4:c.1514C>T p.Ala505Val p.A505V ENST00000220325 NM_139265.3 505 gCg/gTg 0 Missense_Mutation G 38 EHD4 SNP 15 G A 39980247 39980247 Broad FBN1 2200 broad.mit.edu GRCh37 15 48748942 48748942 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000316623.5:c.5314G>A p.Glu1772Lys p.E1772K ENST00000316623 NM_000138.4 1772 Gag/Aag 0 Missense_Mutation C 30 FBN1 SNP 15 C T 46536234 46536234 Broad RASL12 51285 broad.mit.edu GRCh37 15 65351735 65351736 + missense_variant Missense_Mutation DNP TC TC AA novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000220062.4:c.181_182delinsTT p.Glu61Leu p.E61L ENST00000220062 NM_016563.2 61 GAg/TTg 0 Missense_Mutation TC 54 RASL12 DNP 15 TC AA 63138789 63138788 Broad CORO2B 10391 broad.mit.edu GRCh37 15 69011074 69011074 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000566799.1:c.1005C>G p.Cys335Trp p.C335W ENST00000566799 335 tgC/tgG 0 Missense_Mutation C 27 CORO2B SNP 15 C G 66798128 66798128 Broad POLG 5428 broad.mit.edu GRCh37 15 89865200 89865200 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000268124.5:c.2473G>A p.Val825Met p.V825M ENST00000268124 NM_001126131.1 825 Gtg/Atg 0 Missense_Mutation C 17 POLG SNP 15 C T 87666204 87666204 Broad SYNM 23336 broad.mit.edu GRCh37 15 99653864 99653864 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000336292.6:c.876C>T p.Asp292= p.D292= ENST00000336292 NM_145728.2 292 gaC/gaT 0 Silent C 20 SYNM SNP 15 C T 97471387 97471387 Broad MSLNL 401827 broad.mit.edu GRCh37 16 822927 822927 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000293892.3:c.2258T>A p.Leu753Gln p.L753Q ENST00000293892 753 cTg/cAg 0 Missense_Mutation A 7 MSLNL SNP 16 A T 762928 762928 Broad POLR3E 55718 broad.mit.edu GRCh37 16 22327994 22327994 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000299853.5:c.715G>C p.Val239Leu p.V239L ENST00000299853 NM_001258033.1 239 Gtc/Ctc 0 Missense_Mutation G 40 POLR3E SNP 16 G C 22235495 22235495 Broad PRDM7 11105 broad.mit.edu GRCh37 16 90128421 90128421 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000449207.2:c.790G>T p.Ala264Ser p.A264S ENST00000449207 NM_001098173.1 264 Gca/Tca 0 Missense_Mutation C 26 PRDM7 SNP 16 C A 88655922 88655922 Broad PER1 5187 broad.mit.edu GRCh37 17 8049358 8049358 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000317276.4:c.2136G>T p.Ala712= p.A712= ENST00000317276 NM_002616.2 712 gcG/gcT 0 Silent C 23 PER1 SNP 17 C A 7990083 7990083 Broad MYO15A 51168 broad.mit.edu GRCh37 17 18049299 18049299 + synonymous_variant Silent SNP A A T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000205890.5:c.6387A>T p.Ala2129= p.A2129= ENST00000205890 NM_016239.3 2129 gcA/gcT 0 Silent A 6 MYO15A SNP 17 A T 17990024 17990024 Broad MYO15A 51168 broad.mit.edu GRCh37 17 18063311 18063311 + synonymous_variant Silent SNP A A C novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000205890.5:c.9366A>C p.Thr3122= p.T3122= ENST00000205890 NM_016239.3 3122 acA/acC 0 Silent A 7 MYO15A SNP 17 A C 18004036 18004036 Broad RHBDL3 162494 broad.mit.edu GRCh37 17 30632388 30632388 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000269051.4:c.810G>A p.Met270Ile p.M270I ENST00000269051 NM_138328.2 270 atG/atA 0 Missense_Mutation G 45 RHBDL3 SNP 17 G A 27656501 27656501 Broad SLFN13 146857 broad.mit.edu GRCh37 17 33770904 33770904 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000285013.6:c.1102C>T p.Gln368Ter p.Q368* ENST00000285013 NM_144682.5 368 Cag/Tag 0 Nonsense_Mutation G 45 SLFN13 SNP 17 G A 30795017 30795017 Broad CARD14 79092 broad.mit.edu GRCh37 17 78172297 78172297 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000573882.1:c.1758C>T p.Ile586= p.I586= ENST00000573882 586 atC/atT 0 Silent C 31 CARD14 SNP 17 C T 75786892 75786892 Broad ONECUT2 9480 broad.mit.edu GRCh37 18 55143752 55143752 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000491143.2:c.1312C>T p.Arg438Cys p.R438C ENST00000491143 NM_004852.2 438 Cgc/Tgc 0 Missense_Mutation C 19 ONECUT2 SNP 18 C T 53294750 53294750 Broad SERPINB4 6318 broad.mit.edu GRCh37 18 61310657 61310657 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000341074.5:c.155A>C p.Gln52Pro p.Q52P ENST00000341074 NM_002974.2 52 cAa/cCa 0 Missense_Mutation T 63 SERPINB4 SNP 18 T G 59461637 59461637 Broad MUC16 94025 broad.mit.edu GRCh37 19 9077660 9077660 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000397910.4:c.9786G>T p.Leu3262= p.L3262= ENST00000397910 NM_024690.2 3262 ctG/ctT 0 Silent C 25 MUC16 SNP 19 C A 8938660 8938660 Broad ZNF208 7757 broad.mit.edu GRCh37 19 22154440 22154440 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000397126.4:c.3396G>T p.Lys1132Asn p.K1132N ENST00000397126 NM_007153.3 1132 aaG/aaT 0 Missense_Mutation C 24 ZNF208 SNP 19 C A 21946280 21946280 Broad PEPD 5184 broad.mit.edu GRCh37 19 33980958 33980958 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000244137.7:c.447C>T p.Gly149= p.G149= ENST00000244137 NM_000285.3 149 ggC/ggT 0 Silent G 38 PEPD SNP 19 G A 38672798 38672798 Broad ZNF527 84503 broad.mit.edu GRCh37 19 37879811 37879811 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000436120.2:c.860C>T p.Ser287Leu p.S287L ENST00000436120 NM_032453.1 287 tCa/tTa 0 Missense_Mutation C 29 ZNF527 SNP 19 C T 42571651 42571651 Broad SLC8A2 6543 broad.mit.edu GRCh37 19 47935623 47935623 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000236877.6:c.2190G>A p.Thr730= p.T730= ENST00000236877 NM_015063.2 730 acG/acA 0 Silent C 23 SLC8A2 SNP 19 C T 52627435 52627435 Broad ZNF584 201514 broad.mit.edu GRCh37 19 58926991 58926991 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000306910.4:c.270A>C p.Glu90Asp p.E90D ENST00000306910 NM_173548.1 90 gaA/gaC 0 Missense_Mutation A 3 ZNF584 SNP 19 A C 63618803 63618803 Broad CLEC4F 165530 broad.mit.edu GRCh37 2 71043345 71043345 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000272367.2:c.1168A>G p.Ile390Val p.I390V ENST00000272367 NM_001258027.1 390 Ata/Gta 0 Missense_Mutation T 50 CLEC4F SNP 2 T C 70896853 70896853 Broad POLR1A 25885 broad.mit.edu GRCh37 2 86258453 86258453 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000263857.6:c.4578G>A p.Gln1526= p.Q1526= ENST00000263857 1526 caG/caA 0 Silent C 24 POLR1A SNP 2 C T 86111964 86111964 Broad IL36B 27177 broad.mit.edu GRCh37 2 113783780 113783780 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000259213.4:c.291G>A p.Lys97= p.K97= ENST00000259213 NM_014438.4 97 aaG/aaA 0 Silent C 24 IL1F8 SNP 2 C T 113500251 113500251 Broad SCN1A 6323 broad.mit.edu GRCh37 2 166848032 166848032 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000303395.4:c.5753C>G p.Ser1918Cys p.S1918C ENST00000303395 1918 tCt/tGt 0 Missense_Mutation G 33 SCN1A SNP 2 G C 166556278 166556278 Broad XIRP2 129446 broad.mit.edu GRCh37 2 168105627 168105627 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000409195.1:c.7725C>A p.Ser2575Arg p.S2575R ENST00000409195 NM_152381.5 2575 agC/agA 0 Missense_Mutation C 26 XIRP2 SNP 2 C A 167813873 167813873 Broad DLX2 1746 broad.mit.edu GRCh37 2 172967007 172967007 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000234198.4:c.260T>A p.Met87Lys p.M87K ENST00000234198 NM_004405.3 87 aTg/aAg 0 Missense_Mutation A 8 DLX2 SNP 2 A T 172675253 172675253 Broad TTN 7273 broad.mit.edu GRCh37 2 179453904 179453904 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000589042.1:c.62548G>A p.Ala20850Thr p.A20850T ENST00000589042 NM_001267550.1 20850 Gct/Act 0 Missense_Mutation C 26 TTN SNP 2 C T 179162150 179162150 Broad CCDC141 285025 broad.mit.edu GRCh37 2 179702422 179702422 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000420890.2:c.3524A>C p.Glu1175Ala p.E1175A ENST00000420890 NM_173648.3 1175 gAg/gCg 0 Missense_Mutation T 54 CCDC141 SNP 2 T G 179410667 179410667 Broad SLC4A3 6508 broad.mit.edu GRCh37 2 220497051 220497051 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000373762.3:c.1109G>A p.Arg370His p.R370H ENST00000373762 NM_005070.3 370 cGc/cAc 0 Missense_Mutation G 38 SLC4A3 SNP 2 G A 220205295 220205295 Broad ACSL3 2181 broad.mit.edu GRCh37 2 223799373 223799373 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000357430.3:c.1973T>C p.Val658Ala p.V658A ENST00000357430 NM_004457.3 658 gTa/gCa 0 Missense_Mutation T 57 ACSL3 SNP 2 T C 223507617 223507617 Broad UGT1A4 54657 broad.mit.edu GRCh37 2 234627586 234627586 + synonymous_variant Silent SNP C C G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000373409.3:c.120C>G p.Pro40= p.P40= ENST00000373409 NM_007120.2 40 ccC/ccG 0 Silent C 24 UGT1A4 SNP 2 C G 234292325 234292325 Broad ARL4C 10123 broad.mit.edu GRCh37 2 235404668 235404668 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000390645.2:c.563A>C p.Gln188Pro p.Q188P ENST00000390645 NM_005737.3 188 cAg/cCg 0 Missense_Mutation T 55 ARL4C SNP 2 T G 235069407 235069407 Broad RBM39 9584 broad.mit.edu GRCh37 20 34309749 34309749 + synonymous_variant Silent SNP A A G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000253363.6:c.738T>C p.Ser246= p.S246= ENST00000253363 246 agT/agC 0 Silent A 6 RBM39 SNP 20 A G 33773163 33773163 Broad KIAA1755 85449 broad.mit.edu GRCh37 20 36869987 36869987 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000279024.4:c.546C>T p.Thr182= p.T182= ENST00000279024 NM_001029864.1 182 acC/acT 0 Silent G 47 KIAA1755 SNP 20 G A 36303401 36303401 Broad TOX2 84969 broad.mit.edu GRCh37 20 42574641 42574641 + intron_variant Intron SNP C C A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000341197.4:c.100-27366C>A *34* ENST00000341197 NM_001098797.1 0 Missense_Mutation C 25 TOX2 SNP 20 C A 42008055 42008055 Broad ZFP64 55734 broad.mit.edu GRCh37 20 50769706 50769706 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000216923.4:c.1025C>A p.Pro342His p.P342H ENST00000216923 NM_199426.1 342 cCt/cAt 0 Missense_Mutation G 35 ZFP64 SNP 20 G T 50203113 50203113 Broad TSHZ2 128553 broad.mit.edu GRCh37 20 51872658 51872658 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000371497.5:c.2661G>T p.Lys887Asn p.K887N ENST00000371497 NM_173485.5 887 aaG/aaT 0 Missense_Mutation G 36 TSHZ2 SNP 20 G T 51306065 51306065 Broad COL20A1 57642 broad.mit.edu GRCh37 20 61929326 61929326 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000358894.6:c.147G>A p.Ser49= p.S49= ENST00000358894 NM_020882.2 49 tcG/tcA 0 Silent G 39 COL20A1 SNP 20 G A 61399771 61399771 Broad COL18A1 80781 broad.mit.edu GRCh37 21 46888576 46888576 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000355480.5:c.1067T>C p.Leu356Pro p.L356P ENST00000355480 NM_030582.3 356 cTc/cCc 0 Missense_Mutation T 54 COL18A1 SNP 21 T C 45713004 45713004 Broad SLC4A7 9497 broad.mit.edu GRCh37 3 27439813 27439813 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000295736.5:c.2432G>C p.Gly811Ala p.G811A ENST00000295736 NM_003615.4 811 gGg/gCg 0 Missense_Mutation C 22 SLC4A7 SNP 3 C G 27414817 27414817 Broad ZNF589 51385 broad.mit.edu GRCh37 3 48310200 48310200 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000354698.3:c.1019G>T p.Gly340Val p.G340V ENST00000354698 NM_016089.2 340 gGc/gTc 0 Missense_Mutation G 42 ZNF589 SNP 3 G T 48285204 48285204 Broad PDZRN3 23024 broad.mit.edu GRCh37 3 73432913 73432913 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000263666.4:c.2804A>G p.Lys935Arg p.K935R ENST00000263666 NM_015009.1 935 aAg/aGg 0 Missense_Mutation T 56 PDZRN3 SNP 3 T C 73515603 73515603 Broad RYK 6259 broad.mit.edu GRCh37 3 133907756 133907756 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000296084.4:c.1030C>T p.Arg344Cys p.R344C ENST00000296084 NM_001005861.2 344 Cgt/Tgt 0 Missense_Mutation G 38 RYK SNP 3 G A 135390446 135390446 Broad CHST2 9435 broad.mit.edu GRCh37 3 142841235 142841235 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000309575.3:c.1577G>T p.Arg526Leu p.R526L ENST00000309575 NM_004267.4 526 cGg/cTg 0 Missense_Mutation G 39 CHST2 SNP 3 G T 144323925 144323925 Broad ATP11B 23200 broad.mit.edu GRCh37 3 182602567 182602567 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000323116.5:c.2536G>T p.Ala846Ser p.A846S ENST00000323116 NM_014616.2 846 Gct/Tct 0 Missense_Mutation G 42 ATP11B SNP 3 G T 184085261 184085261 Broad HTR3C 170572 broad.mit.edu GRCh37 3 183774067 183774067 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000318351.1:c.382G>A p.Val128Met p.V128M ENST00000318351 NM_130770.2 128 Gtg/Atg 0 Missense_Mutation G 40 HTR3C SNP 3 G A 185256761 185256761 Broad BCL6 604 broad.mit.edu GRCh37 3 187447315 187447315 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000232014.4:c.878A>T p.Tyr293Phe p.Y293F ENST00000232014 NM_001130845.1 293 tAc/tTc 0 Missense_Mutation T 57 BCL6 SNP 3 T A 188930009 188930009 Broad FRAS1 80144 broad.mit.edu GRCh37 4 79387503 79387503 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000264895.6:c.7171G>A p.Gly2391Ser p.G2391S ENST00000264895 NM_025074.6 2391 Ggc/Agc 0 Missense_Mutation G 39 FRAS1 SNP 4 G A 79606527 79606527 Broad MTTP 4547 broad.mit.edu GRCh37 4 100527921 100527921 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000457717.1:c.1361A>G p.Lys454Arg p.K454R ENST00000457717 NM_000253.2 454 aAg/aGg 0 Missense_Mutation A 3 MTTP SNP 4 A G 100746944 100746944 Broad WDR17 116966 broad.mit.edu GRCh37 4 177089798 177089798 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000280190.4:c.3084-1G>T p.X1028_splice ENST00000280190 0 Splice_Site_SNP G 36 WDR17 SNP 4 G T 177326792 177326792 Broad KIAA0947 23379 broad.mit.edu GRCh37 5 5464525 5464525 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000296564.7:c.5078C>G p.Pro1693Arg p.P1693R ENST00000296564 NM_015325.2 1693 cCt/cGt 0 Missense_Mutation C 24 KIAA0947 SNP 5 C G 5517525 5517525 Broad SLC45A2 51151 broad.mit.edu GRCh37 5 33954474 33954474 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000296589.4:c.1024A>T p.Met342Leu p.M342L ENST00000296589 NM_016180.3 342 Atg/Ttg 0 Missense_Mutation T 51 SLC45A2 SNP 5 T A 33990231 33990231 Broad VCAN 1462 broad.mit.edu GRCh37 5 82836875 82836875 + missense_variant Missense_Mutation SNP G G A rs59948995 Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000265077.3:c.8053G>A p.Val2685Ile p.V2685I ENST00000265077 NM_004385.4 2685 Gtt/Att 0 Missense_Mutation G 40 VCAN SNP 5 G A 82872631 82872631 Broad PPARGC1B 133522 broad.mit.edu GRCh37 5 149206343 149206343 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000309241.5:c.360C>T p.Asp120= p.D120= ENST00000309241 NM_133263.3 120 gaC/gaT 0 Silent C 19 PPARGC1B SNP 5 C T 149186536 149186536 Broad CYFIP2 26999 broad.mit.edu GRCh37 5 156741444 156741444 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000521420.1:c.1125C>T p.Ser375= p.S375= ENST00000521420 375 tcC/tcT 0 Silent C 21 CYFIP2 SNP 5 C T 156674022 156674022 Broad IMPG1 3617 broad.mit.edu GRCh37 6 76728498 76728498 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000369950.3:c.744G>A p.Lys248= p.K248= ENST00000369950 NM_001563.2 248 aaG/aaA 0 Silent C 24 IMPG1 SNP 6 C T 76785218 76785218 Broad ZBTB24 9841 broad.mit.edu GRCh37 6 109796641 109796641 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000230122.3:c.1249G>T p.Asp417Tyr p.D417Y ENST00000230122 NM_014797.2 417 Gat/Tat 0 Missense_Mutation C 30 ZBTB24 SNP 6 C A 109903334 109903334 Broad LAMA2 3908 broad.mit.edu GRCh37 6 129641721 129641721 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000421865.2:c.4097G>T p.Arg1366Leu p.R1366L ENST00000421865 NM_001079823.1 1366 cGt/cTt 0 Missense_Mutation G 40 LAMA2 SNP 6 G T 129683414 129683414 Broad SGK1 6446 broad.mit.edu GRCh37 6 134491504 134491504 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000367858.5:c.1483A>G p.Lys495Glu p.K495E ENST00000367858 NM_001143676.1 495 Aag/Gag 0 Missense_Mutation T 63 SGK1 SNP 6 T C 134533197 134533197 Broad INMT 11185 broad.mit.edu GRCh37 7 30795333 30795333 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000013222.5:c.658G>T p.Glu220Ter p.E220* ENST00000013222 NM_006774.4 220 Gag/Tag 0 Nonsense_Mutation G 41 INMT SNP 7 G T 30761858 30761858 Broad AKAP9 10142 broad.mit.edu GRCh37 7 91712945 91712945 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000356239.3:c.8622G>A p.Val2874= p.V2874= ENST00000356239 NM_147185.2 2874 gtG/gtA 0 Silent G 45 AKAP9 SNP 7 G A 91550881 91550881 Broad CBLL1 79872 broad.mit.edu GRCh37 7 107398982 107398982 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000440859.3:c.835C>T p.Gln279Ter p.Q279* ENST00000440859 NM_024814.2 279 Cag/Tag 0 Nonsense_Mutation C 29 CBLL1 SNP 7 C T 107186218 107186218 Broad PLXNA4 91584 broad.mit.edu GRCh37 7 131825466 131825466 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000359827.3:c.5330C>T p.Thr1777Ile p.T1777I ENST00000359827 1777 aCc/aTc 0 Missense_Mutation G 44 PLXNA4 SNP 7 G A 131476006 131476006 Broad DENND2A 27147 broad.mit.edu GRCh37 7 140269472 140269472 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000275884.6:c.1513C>T p.Gln505Ter p.Q505* ENST00000275884 505 Cag/Tag 0 Nonsense_Mutation G 47 DENND2A SNP 7 G A 139915941 139915941 Broad ZFHX4 79776 broad.mit.edu GRCh37 8 77618482 77618482 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000521891.2:c.2159C>A p.Ser720Ter p.S720* ENST00000521891 NM_024721.4 720 tCg/tAg 0 Nonsense_Mutation C 31 ZFHX4 SNP 8 C A 77781037 77781037 Broad NUDCD1 84955 broad.mit.edu GRCh37 8 110293378 110293378 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000239690.4:c.847A>T p.Thr283Ser p.T283S ENST00000239690 NM_032869.3 283 Act/Tct 0 Missense_Mutation T 58 NUDCD1 SNP 8 T A 110362554 110362554 Broad CYP11B1 1584 broad.mit.edu GRCh37 8 143960518 143960518 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000292427.4:c.325C>A p.His109Asn p.H109N ENST00000292427 NM_000497.3 109 Cac/Aac 0 Missense_Mutation G 47 CYP11B1 SNP 8 G T 143957520 143957520 Broad PARP10 84875 broad.mit.edu GRCh37 8 145060247 145060247 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000313028.7:c.157G>A p.Val53Ile p.V53I ENST00000313028 NM_032789.3 53 Gtc/Atc 0 Missense_Mutation C 19 PARP10 SNP 8 C T 145132235 145132235 Broad IFNA13 3447 broad.mit.edu GRCh37 9 21367973 21367973 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000449498.1:c.37G>T p.Val13Leu p.V13L ENST00000449498 NM_006900.3 13 Gtg/Ttg 0 Missense_Mutation C 18 IFNA13 SNP 9 C A 21357973 21357973 Broad RGP1 9827 broad.mit.edu GRCh37 9 35751705 35751705 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000378078.4:c.716T>C p.Val239Ala p.V239A ENST00000378078 NM_001080496.2 239 gTg/gCg 0 Missense_Mutation T 59 RGP1 SNP 9 T C 35741705 35741705 Broad FRMPD1 22844 broad.mit.edu GRCh37 9 37733549 37733549 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000539465.1:c.1075A>G p.Ser359Gly p.S359G ENST00000539465 359 Agc/Ggc 0 Missense_Mutation A 15 FRMPD1 SNP 9 A G 37723549 37723549 Broad CEP78 84131 broad.mit.edu GRCh37 9 80881399 80881399 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000376597.4:c.1890C>T p.Leu630= p.L630= ENST00000376597 NM_001098802.1 630 ctC/ctT 0 Silent C 31 CEP78 SNP 9 C T 80071219 80071219 Broad C9orf89 84270 broad.mit.edu GRCh37 9 95872982 95872982 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000375464.2:c.283C>G p.Leu95Val p.L95V ENST00000375464 NM_032310.3 95 Ctg/Gtg 0 Missense_Mutation C 24 C9orf89 SNP 9 C G 94912803 94912803 Broad SPTAN1 6709 broad.mit.edu GRCh37 9 131329147 131329147 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000372739.3:c.128C>T p.Ser43Phe p.S43F ENST00000372739 NM_001130438.2 43 tCc/tTc 0 Missense_Mutation C 30 SPTAN1 SNP 9 C T 130368968 130368968 Broad ADAMTS13 11093 broad.mit.edu GRCh37 9 136303450 136303450 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000371929.3:c.1669C>T p.Pro557Ser p.P557S ENST00000371929 NM_139025.4 557 Cca/Tca 0 Missense_Mutation C 22 ADAMTS13 SNP 9 C T 135293271 135293271 Broad NOTCH1 4851 broad.mit.edu GRCh37 9 139391212 139391212 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000277541.6:c.6979C>T p.Arg2327Trp p.R2327W ENST00000277541 NM_017617.3 2327 Cgg/Tgg 0 Missense_Mutation G 38 NOTCH1 SNP 9 G A 138511033 138511033 Broad UBA1 7317 broad.mit.edu GRCh37 X 47065672 47065672 + synonymous_variant Silent SNP C C G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000335972.6:c.1767C>G p.Val589= p.V589= ENST00000335972 NM_003334.3 589 gtC/gtG 0 Silent C 32 UBA1 SNP 23 C G 46950616 46950616 Broad ARMCX3 51566 broad.mit.edu GRCh37 X 100880256 100880256 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000341189.4:c.287C>G p.Ala96Gly p.A96G ENST00000341189 NM_016607.3 96 gCc/gGc 0 Missense_Mutation C 26 ARMCX3 SNP 23 C G 100766912 100766912 Broad PHF6 84295 broad.mit.edu GRCh37 X 133549045 133549045 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000332070.3:c.730-1G>C p.X244_splice ENST00000332070 NM_032458.2 0 Splice_Site_SNP G 36 PHF6 SNP 23 G C 133376711 133376711 Broad TKTL1 8277 broad.mit.edu GRCh37 X 153524340 153524340 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown x x x ENST00000369915.3:c.128G>A p.Ser43Asn p.S43N ENST00000369915 NM_012253.3 43 aGc/aAc 0 Missense_Mutation G 34 TKTL1 SNP 23 G A 153177534 153177534 Broad MYO7A 4647 broad.mit.edu GRCh37 11 76895771 76895792 + intron_variant Intron DEL GGAGGCGGGGACACCAGGGCCT GGAGGCGGGGACACCAGGGCCT - novel Unknown TCGA-61-2012-01 TCGA-61-2012-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000409709.3:c.3503+12_3503+33del *1168* ENST00000409709 NM_000260.3 0 Nonstop_Mutation GGAGGCGGGGACACCAGGGCCT 43 MYO7A DEL 11 - GGAGGCGGGGACACCAGGGCCT 76573440 76573419 Broad CSMD2 114784 broad.mit.edu GRCh37 1 34070923 34070923 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000241312.4:c.6497G>T p.Gly2166Val p.G2166V ENST00000241312 2166 gGc/gTc 0 Missense_Mutation C 26 CSMD2 SNP 1 C A 33843510 33843510 Broad MACF1 23499 broad.mit.edu GRCh37 1 39854014 39854014 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000545844.1:c.9314A>G p.Asn3105Ser p.N3105S ENST00000545844 3105 aAc/aGc 0 Missense_Mutation A 2 MACF1 SNP 1 A G 39626601 39626601 Broad IPO13 9670 broad.mit.edu GRCh37 1 44423750 44423750 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000372343.3:c.1642G>A p.Val548Met p.V548M ENST00000372343 NM_014652.3 548 Gtg/Atg 0 Missense_Mutation G 48 IPO13 SNP 1 G A 44196337 44196337 Broad SRSF11 9295 broad.mit.edu GRCh37 1 70715640 70715640 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000370950.3:c.1028G>C p.Arg343Thr p.R343T ENST00000370950 343 aGa/aCa 0 Missense_Mutation G 33 SRSF11 SNP 1 G C 70488228 70488228 Broad KPRP 448834 broad.mit.edu GRCh37 1 152733551 152733551 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000368773.1:c.1487G>A p.Arg496His p.R496H ENST00000368773 NM_001025231.1 496 cGc/cAc 0 Missense_Mutation G 38 KPRP SNP 1 G A 151000175 151000175 Broad USH2A 7399 broad.mit.edu GRCh37 1 215848522 215848522 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000307340.3:c.12731A>G p.Asn4244Ser p.N4244S ENST00000307340 NM_206933.2 4244 aAt/aGt 0 Missense_Mutation T 52 USH2A SNP 1 T C 213915145 213915145 Broad OR2T5 401993 broad.mit.edu GRCh37 1 248652031 248652031 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000366473.2:c.142G>C p.Val48Leu p.V48L ENST00000366473 NM_001004697.1 48 Gtc/Ctc 0 Missense_Mutation G 48 OR2T5 SNP 1 G C 246718654 246718654 Broad GAD2 2572 broad.mit.edu GRCh37 10 26562620 26562620 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000376261.3:c.1148G>T p.Gly383Val p.G383V ENST00000376261 NM_001134366.1 383 gGc/gTc 0 Missense_Mutation G 42 GAD2 SNP 10 G T 26602626 26602626 Broad ADAMTS14 140766 broad.mit.edu GRCh37 10 72468478 72468478 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000373208.1:c.814G>C p.Val272Leu p.V272L ENST00000373208 NM_139155.2 272 Gtt/Ctt 0 Missense_Mutation G 44 ADAMTS14 SNP 10 G C 72138484 72138484 Broad ZNF215 7762 broad.mit.edu GRCh37 11 6964392 6964392 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000278319.5:c.562C>G p.Leu188Val p.L188V ENST00000278319 NM_013250.2 188 Ctg/Gtg 0 Missense_Mutation C 24 ZNF215 SNP 11 C G 6920968 6920968 Broad SBF2 81846 broad.mit.edu GRCh37 11 9810830 9810830 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000256190.8:c.4758G>A p.Glu1586= p.E1586= ENST00000256190 NM_030962.3 1586 gaG/gaA 0 Silent C 32 SBF2 SNP 11 C T 9767406 9767406 Broad METTL15 196074 broad.mit.edu GRCh37 11 28135059 28135059 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000407364.3:c.178T>G p.Ser60Ala p.S60A ENST00000407364 60 Tct/Gct 0 Missense_Mutation T 50 METT5D1 SNP 11 T G 28091635 28091635 Broad TMEM109 79073 broad.mit.edu GRCh37 11 60687238 60687238 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000227525.3:c.73C>T p.Leu25Phe p.L25F ENST00000227525 NM_024092.2 25 Ctt/Ttt 0 Missense_Mutation C 24 TMEM109 SNP 11 C T 60443814 60443814 Broad CHD4 1108 broad.mit.edu GRCh37 12 6700958 6700958 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000357008.2:c.3124G>T p.Gly1042Cys p.G1042C ENST00000357008 NM_001273.2 1042 Ggc/Tgc 0 Missense_Mutation C 21 CHD4 SNP 12 C A 6571219 6571219 Broad ESYT1 23344 broad.mit.edu GRCh37 12 56531064 56531064 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000541590.1:c.1875G>C p.Trp625Cys p.W625C ENST00000541590 625 tgG/tgC 0 Missense_Mutation G 43 ESYT1 SNP 12 G C 54817331 54817331 Broad NACA 4666 broad.mit.edu GRCh37 12 57108144 57108144 + splice_donor_variant Splice_Site SNP A A T novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000550952.1:c.2364+2T>A p.X788_splice ENST00000550952 0 Splice_Site_SNP A 14 NACA SNP 12 A T 55394411 55394411 Broad C12orf29 91298 broad.mit.edu GRCh37 12 88439433 88439433 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000356891.3:c.496G>A p.Ala166Thr p.A166T ENST00000356891 NM_001009894.2 166 Gcc/Acc 0 Missense_Mutation G 46 C12orf29 SNP 12 G A 86963564 86963564 Broad EXOC5 10640 broad.mit.edu GRCh37 14 57698281 57698281 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000413566.2:c.1091T>A p.Ile364Asn p.I364N ENST00000413566 NM_006544.3 364 aTc/aAc 0 Missense_Mutation A 12 EXOC5 SNP 14 A T 56768034 56768034 Broad CCDC88C 440193 broad.mit.edu GRCh37 14 91745644 91745644 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000389857.6:c.4706G>A p.Arg1569Gln p.R1569Q ENST00000389857 NM_001080414.3 1569 cGg/cAg 0 Missense_Mutation C 23 CCDC88C SNP 14 C T 90815397 90815397 Broad AHNAK2 113146 broad.mit.edu GRCh37 14 105416244 105416244 + synonymous_variant Silent SNP C C G novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000333244.5:c.5544G>C p.Val1848= p.V1848= ENST00000333244 NM_138420.2 1848 gtG/gtC 0 Silent C 17 AHNAK2 SNP 14 C G 104487289 104487289 Broad RYR3 6263 broad.mit.edu GRCh37 15 33858923 33858923 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000389232.4:c.1191G>A p.Leu397= p.L397= ENST00000389232 NM_001036.3 397 ctG/ctA 0 Silent G 46 RYR3 SNP 15 G A 31646215 31646215 Broad CSK 1445 broad.mit.edu GRCh37 15 75094671 75094671 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000220003.9:c.1171-1G>T p.X391_splice ENST00000220003 NM_004383.2 0 Splice_Site_SNP G 34 CSK SNP 15 G T 72881724 72881724 Broad MGRN1 23295 broad.mit.edu GRCh37 16 4700456 4700456 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000262370.7:c.179T>G p.Leu60Arg p.L60R ENST00000262370 NM_015246.3 60 cTg/cGg 0 Missense_Mutation T 55 MGRN1 SNP 16 T G 4640457 4640457 Broad MYH11 4629 broad.mit.edu GRCh37 16 15844137 15844137 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000396324.3:c.1937T>G p.Leu646Arg p.L646R ENST00000396324 NM_001040114.1 646 cTg/cGg 0 Missense_Mutation A 7 MYH11 SNP 16 A C 15751638 15751638 Broad GOSR1 9527 broad.mit.edu GRCh37 17 28847010 28847010 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000225724.5:c.599C>T p.Ser200Leu p.S200L ENST00000225724 NM_001007024.1 200 tCa/tTa 0 Missense_Mutation C 29 GOSR1 SNP 17 C T 25871136 25871136 Broad C17orf104 284071 broad.mit.edu GRCh37 17 42745439 42745439 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000409122.2:c.2160T>C p.Pro720= p.P720= ENST00000409122 NM_001145080.2 720 ccT/ccC 0 Silent T 56 uc002igz.2 SNP 17 T C 40100965 40100965 Broad MARCH2 51257 broad.mit.edu GRCh37 19 8503305 8503305 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000602117.1:c.616G>T p.Glu206Ter p.E206* ENST00000602117 206 Gag/Tag 0 Nonsense_Mutation G 37 MARCH2 SNP 19 G T 8409305 8409305 Broad ZNF20 7568 broad.mit.edu GRCh37 19 12244390 12244390 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000334213.5:c.611G>C p.Cys204Ser p.C204S ENST00000334213 NM_001203250.1 204 tGt/tCt 0 Missense_Mutation C 17 ZNF20 SNP 19 C G 12105390 12105390 Broad ZNF708 7562 broad.mit.edu GRCh37 19 21492104 21492104 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000356929.3:c.170A>G p.Glu57Gly p.E57G ENST00000356929 NM_021269.2 57 gAg/gGg 0 Missense_Mutation T 54 ZNF708 SNP 19 T C 21283944 21283944 Broad GSK3A 2931 broad.mit.edu GRCh37 19 42736733 42736733 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000222330.3:c.1200C>G p.His400Gln p.H400Q ENST00000222330 NM_019884.2 400 caC/caG 0 Missense_Mutation G 48 GSK3A SNP 19 G C 47428573 47428573 Broad ZNF45 7596 broad.mit.edu GRCh37 19 44418233 44418233 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000269973.5:c.1355G>C p.Gly452Ala p.G452A ENST00000269973 NM_003425.3 452 gGc/gCc 0 Missense_Mutation C 26 ZNF45 SNP 19 C G 49110073 49110073 Broad BIRC6 57448 broad.mit.edu GRCh37 2 32688401 32688401 + synonymous_variant Silent SNP A A C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000421745.2:c.4893A>C p.Leu1631= p.L1631= ENST00000421745 NM_016252.3 1631 ctA/ctC 0 Silent A 14 BIRC6 SNP 2 A C 32541905 32541905 Broad LTBP1 4052 broad.mit.edu GRCh37 2 33500114 33500114 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000404816.2:c.2826C>T p.Cys942= p.C942= ENST00000404816 942 tgC/tgT 0 Silent C 26 LTBP1 SNP 2 C T 33353618 33353618 Broad LRRTM4 80059 broad.mit.edu GRCh37 2 77746316 77746316 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000409093.1:c.679C>G p.Arg227Gly p.R227G ENST00000409093 227 Cgt/Ggt 0 Missense_Mutation G 40 LRRTM4 SNP 2 G C 77599824 77599824 Broad ST6GAL2 84620 broad.mit.edu GRCh37 2 107423391 107423391 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000409382.3:c.1333A>G p.Met445Val p.M445V ENST00000409382 NM_001142351.1 445 Atg/Gtg 0 Missense_Mutation T 50 ST6GAL2 SNP 2 T C 106789823 106789823 Broad HSPA12B 116835 broad.mit.edu GRCh37 20 3725632 3725632 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000254963.2:c.350G>T p.Ser117Ile p.S117I ENST00000254963 NM_052970.4 117 aGc/aTc 0 Missense_Mutation G 34 HSPA12B SNP 20 G T 3673632 3673632 Broad ITSN1 6453 broad.mit.edu GRCh37 21 35208859 35208859 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000381318.3:c.3584G>C p.Gly1195Ala p.G1195A ENST00000381318 NM_003024.2 1195 gGa/gCa 0 Missense_Mutation G 41 ITSN1 SNP 21 G C 34130729 34130729 Broad PFKL 5211 broad.mit.edu GRCh37 21 45746605 45746605 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000349048.4:c.2203A>G p.Met735Val p.M735V ENST00000349048 NM_002626.4 735 Atg/Gtg 0 Missense_Mutation A 8 PFKL SNP 21 A G 44571033 44571033 Broad TCF20 6942 broad.mit.edu GRCh37 22 42610198 42610198 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000359486.3:c.1114C>A p.Pro372Thr p.P372T ENST00000359486 NM_005650.2 372 Cca/Aca 0 Missense_Mutation G 41 TCF20 SNP 22 G T 40940142 40940142 Broad WNT7B 7477 broad.mit.edu GRCh37 22 46327087 46327087 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000339464.4:c.461C>G p.Ala154Gly p.A154G ENST00000339464 NM_058238.2 154 gCc/gGc 0 Missense_Mutation G 42 WNT7B SNP 22 G C 44705751 44705751 Broad KALRN 8997 broad.mit.edu GRCh37 3 124132427 124132427 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000240874.3:c.2451G>C p.Arg817= p.R817= ENST00000240874 NM_003947.4 817 cgG/cgC 0 Silent G 41 KALRN SNP 3 G C 125615117 125615117 Broad PIK3R4 30849 broad.mit.edu GRCh37 3 130442413 130442413 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000356763.3:c.1826G>A p.Gly609Asp p.G609D ENST00000356763 NM_014602.2 609 gGc/gAc 0 Missense_Mutation C 26 PIK3R4 SNP 3 C T 131925103 131925103 Broad EPHB1 2047 broad.mit.edu GRCh37 3 134670439 134670439 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000398015.3:c.350C>A p.Thr117Asn p.T117N ENST00000398015 NM_004441.4 117 aCt/aAt 0 Missense_Mutation C 20 EPHB1 SNP 3 C A 136153129 136153129 Broad CCDC39 339829 broad.mit.edu GRCh37 3 180378492 180378492 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000442201.2:c.382A>G p.Lys128Glu p.K128E ENST00000442201 NM_181426.1 128 Aaa/Gaa 0 Missense_Mutation T 64 CCDC39 SNP 3 T C 181861186 181861186 Broad KLHL24 54800 broad.mit.edu GRCh37 3 183397050 183397050 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000454652.2:c.1779C>G p.Tyr593Ter p.Y593* ENST00000454652 NM_017644.3 593 taC/taG 0 Nonsense_Mutation C 17 KLHL24 SNP 3 C G 184879744 184879744 Broad GPRIN3 285513 broad.mit.edu GRCh37 4 90170334 90170334 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000609438.1:c.928A>C p.Lys310Gln p.K310Q ENST00000609438 NM_198281.2 310 Aag/Cag 0 Missense_Mutation T 63 GPRIN3 SNP 4 T G 90389357 90389357 Broad FAT1 2195 broad.mit.edu GRCh37 4 187549459 187549459 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000441802.2:c.4659C>G p.Ser1553Arg p.S1553R ENST00000441802 NM_005245.3 1553 agC/agG 0 Missense_Mutation G 38 FAT1 SNP 4 G C 187786453 187786453 Broad ANKRD55 79722 broad.mit.edu GRCh37 5 55398346 55398346 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000341048.4:c.1698C>A p.Asn566Lys p.N566K ENST00000341048 NM_024669.2 566 aaC/aaA 0 Missense_Mutation G 44 ANKRD55 SNP 5 G T 55434103 55434103 Broad PDLIM7 9260 broad.mit.edu GRCh37 5 176910884 176910884 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000355841.2:c.1271C>G p.Thr424Ser p.T424S ENST00000355841 NM_005451.4 424 aCc/aGc 0 Missense_Mutation G 44 PDLIM7 SNP 5 G C 176843490 176843490 Broad BACH2 60468 broad.mit.edu GRCh37 6 90660242 90660242 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000257749.4:c.1583A>C p.Tyr528Ser p.Y528S ENST00000257749 NM_021813.2 528 tAc/tCc 0 Missense_Mutation T 57 BACH2 SNP 6 T G 90716963 90716963 Broad MAP3K7 6885 broad.mit.edu GRCh37 6 91278296 91278296 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000369329.3:c.278A>G p.Tyr93Cys p.Y93C ENST00000369329 NM_145331.2 93 tAt/tGt 0 Missense_Mutation T 49 MAP3K7 SNP 6 T C 91335017 91335017 Broad HIVEP2 3097 broad.mit.edu GRCh37 6 143094147 143094147 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000367603.2:c.1729T>C p.Phe577Leu p.F577L ENST00000367603 NM_006734.3 577 Ttc/Ctc 0 Missense_Mutation A 4 HIVEP2 SNP 6 A G 143135840 143135840 Broad SAMD9 54809 broad.mit.edu GRCh37 7 92733135 92733135 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000379958.2:c.2276G>C p.Arg759Thr p.R759T ENST00000379958 NM_017654.3 759 aGa/aCa 0 Missense_Mutation C 32 SAMD9 SNP 7 C G 92571071 92571071 Broad PPP1R3A 5506 broad.mit.edu GRCh37 7 113519848 113519848 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000284601.3:c.1299C>G p.Gly433= p.G433= ENST00000284601 NM_002711.3 433 ggC/ggG 0 Silent G 46 PPP1R3A SNP 7 G C 113307084 113307084 Broad POT1 25913 broad.mit.edu GRCh37 7 124510987 124510987 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000357628.3:c.233T>C p.Ile78Thr p.I78T ENST00000357628 NM_015450.2 78 aTt/aCt 0 Missense_Mutation A 4 POT1 SNP 7 A G 124298223 124298223 Broad ZBED6CL 113763 broad.mit.edu GRCh37 7 150028097 150028097 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000343855.4:c.604G>C p.Glu202Gln p.E202Q ENST00000343855 NM_138434.2 202 Gag/Cag 0 Missense_Mutation G 41 C7orf29 SNP 7 G C 149659030 149659030 Broad NEFM 4741 broad.mit.edu GRCh37 8 24773150 24773150 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000221166.5:c.1113G>A p.Arg371= p.R371= ENST00000221166 371 cgG/cgA 0 Silent G 43 NEFM SNP 8 G A 24829055 24829055 Broad PIGO 84720 broad.mit.edu GRCh37 9 35091650 35091650 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000378617.3:c.2234G>A p.Arg745Gln p.R745Q ENST00000378617 NM_032634.3 745 cGg/cAg 0 Missense_Mutation C 23 PIGO SNP 9 C T 35081650 35081650 Broad ABCA1 19 broad.mit.edu GRCh37 9 107591257 107591257 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000374736.3:c.2055G>A p.Trp685Ter p.W685* ENST00000374736 NM_005502.3 685 tgG/tgA 0 Nonsense_Mutation C 18 ABCA1 SNP 9 C T 106631078 106631078 Broad SPIN2A 54466 broad.mit.edu GRCh37 X 57162278 57162278 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000374908.1:c.753C>T p.Val251= p.V251= ENST00000374908 251 gtC/gtT 0 Silent G 33 SPIN2A SNP 23 G A 57179003 57179003 Broad AWAT2 158835 broad.mit.edu GRCh37 X 69262168 69262168 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown x x x ENST00000276101.3:c.716G>T p.Gly239Val p.G239V ENST00000276101 NM_001002254.1 239 gGt/gTt 0 Missense_Mutation C 18 AWAT2 SNP 23 C A 69178893 69178893 Broad KPNA3 3839 broad.mit.edu GRCh37 13 50283736 50283740 + frameshift_variant Frame_Shift_Del DEL AAGAG AAGAG - novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000261667.3:c.1000_1004del p.Leu334IlefsTer9 p.L334Ifs*9 ENST00000261667 NM_002267.3 334 CTCTTa/a 0 Frame_Shift_Del AAGAG 13 KPNA3 DEL 13 - - 49181741 49181737 Broad ALOX12 239 broad.mit.edu GRCh37 17 6913409 6913418 + frameshift_variant Frame_Shift_Del DEL CATCTCATGG CATCTCATGG - novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000251535.6:c.1781_1790del p.Ser594Ter p.S594* ENST00000251535 NM_000697.2 592 gcCATCTCATGG/gc 0 Frame_Shift_Del CATCTCATGG 21 ALOX12 DEL 17 - CATCTCATGG 6854142 6854133 Broad TP53 7157 broad.mit.edu GRCh37 17 7577019 7577020 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL CT CT - novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.918_919del p.Ala307ThrfsTer29 p.A307Tfs*29 ENST00000269305 NM_001126112.2 306 cgAGca/cgca 0 Frame_Shift_Del CT 24 TP53 DEL 17 - CT 7517745 7517744 Broad ZNF708 7562 broad.mit.edu GRCh37 19 21476562 21476562 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-61-2109-01 TCGA-61-2109-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000356929.3:c.1206del p.Lys403SerfsTer10 p.K403Sfs*10 ENST00000356929 NM_021269.2 402 acC/ac 0 Frame_Shift_Del G 47 ZNF708 DEL 19 - G 21268402 21268402 Broad BLK 640 hgsc.bcm.edu GRCh37 8 11415521 11415521 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000259089.4:c.1003C>T p.Pro335Ser p.P335S ENST00000259089 NM_001715.2 335 Cca/Tca 0 Missense_Mutation C 22 BLK SNP 8 C T 11452930 11452930 Baylor BMP1 649 hgsc.bcm.edu GRCh37 8 22064409 22064409 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000306385.5:c.2276C>T p.Thr759Ile p.T759I ENST00000306385 NM_006129.4 759 aCc/aTc 0 Missense_Mutation C 18 BMP1 SNP 8 C T 22120354 22120354 Baylor CD274 29126 hgsc.bcm.edu GRCh37 9 5462907 5462907 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381577.3:c.468G>T p.Gln156His p.Q156H ENST00000381577 NM_014143.3 156 caG/caT 0 Missense_Mutation G 35 CD274 SNP 9 G T 5452907 5452907 Baylor CNTNAP2 26047 hgsc.bcm.edu GRCh37 7 148112574 148112574 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361727.3:c.3862C>T p.Arg1288Cys p.R1288C ENST00000361727 NM_014141.5 1288 Cgc/Tgc 0 Missense_Mutation C 23 CNTNAP2 SNP 7 C T 147743507 147743507 Baylor COL22A1 169044 hgsc.bcm.edu GRCh37 8 139635998 139635998 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000303045.6:c.3748A>G p.Lys1250Glu p.K1250E ENST00000303045 NM_152888.1 1250 Aag/Gag 0 Missense_Mutation T 64 COL22A1 SNP 8 T C 139705180 139705180 Baylor DDB1 1642 hgsc.bcm.edu GRCh37 11 61081669 61081669 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000301764.7:c.1603G>C p.Glu535Gln p.E535Q ENST00000301764 NM_001923.4 535 Gaa/Caa 0 Missense_Mutation C 30 DDB1 SNP 11 C G 60838245 60838245 Baylor DMD 1756 hgsc.bcm.edu GRCh37 X 31497167 31497167 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357033.4:c.8601G>A p.Glu2867= p.E2867= ENST00000357033 NM_004007.2 2867 gaG/gaA 0 Silent C 32 DMD SNP 23 C T 31407088 31407088 Baylor DNAH5 1767 hgsc.bcm.edu GRCh37 5 13830837 13830837 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000265104.4:c.5930C>A p.Ala1977Asp p.A1977D ENST00000265104 NM_001369.2 1977 gCc/gAc 0 Missense_Mutation G 42 DNAH5 SNP 5 G T 13883837 13883837 Baylor EWSR1 2130 hgsc.bcm.edu GRCh37 22 29683064 29683064 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000414183.2:c.752G>T p.Gly251Val p.G251V ENST00000414183 251 gGa/gTa 0 Missense_Mutation G 41 EWSR1 SNP 22 G T 28013064 28013064 Baylor BRINP2 57795 hgsc.bcm.edu GRCh37 1 177242709 177242709 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361539.4:c.755A>G p.Glu252Gly p.E252G ENST00000361539 NM_021165.2 252 gAg/gGg 0 Missense_Mutation A 11 FAM5B SNP 1 A G 175509332 175509332 Baylor HLX 3142 hgsc.bcm.edu GRCh37 1 221057775 221057775 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000366903.6:c.1196G>A p.Arg399His p.R399H ENST00000366903 NM_021958.3 399 cGt/cAt 0 Missense_Mutation G 40 HLX SNP 1 G A 219124398 219124398 Baylor IDE 3416 hgsc.bcm.edu GRCh37 10 94269887 94269887 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000265986.6:c.817A>C p.Lys273Gln p.K273Q ENST00000265986 NM_004969.3 273 Aag/Cag 0 Missense_Mutation T 64 IDE SNP 10 T G 94259867 94259867 Baylor KAT2B 8850 hgsc.bcm.edu GRCh37 3 20136781 20136781 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000263754.4:c.457G>A p.Val153Met p.V153M ENST00000263754 NM_003884.4 153 Gtg/Atg 0 Missense_Mutation G 48 KAT2B SNP 3 G A 20111785 20111785 Baylor MAN2B1 4125 hgsc.bcm.edu GRCh37 19 12775781 12775781 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000456935.2:c.455A>G p.Asn152Ser p.N152S ENST00000456935 NM_000528.3 152 aAt/aGt 0 Missense_Mutation T 52 MAN2B1 SNP 19 T C 12636781 12636781 Baylor MURC 347273 hgsc.bcm.edu GRCh37 9 103348538 103348538 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000307584.5:c.900C>G p.Ser300Arg p.S300R ENST00000307584 NM_001018116.2 300 agC/agG 0 Missense_Mutation C 27 MURC SNP 9 C G 102388359 102388359 Baylor OFCC1 266553 hgsc.bcm.edu GRCh37 6 9900599 9900600 + intron_variant Intron INS - - GAG novel Unknown TCGA-25-1627-01 TCGA-25-1628-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000460363.2:c.343+8149_343+8151dup *115* ENST00000460363 0 In_Frame_Ins - 55 OFCC1 INS 6 - GAG 10008586 10008585 Baylor PCSK7 9159 hgsc.bcm.edu GRCh37 11 117078702 117078702 + synonymous_variant Silent SNP A A C rs596314 Unknown TCGA-25-1627-01 TCGA-25-1627-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000320934.3:c.1770T>G p.Leu590= p.L590= ENST00000320934 NM_004716.2 590 ctT/ctG 0 Silent A 5 PCSK7 SNP 11 A C 116583912 116583912 Baylor PDE1A 5136 hgsc.bcm.edu GRCh37 2 183387022 183387022 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000435564.1:c.82T>C p.Trp28Arg p.W28R ENST00000435564 NM_001258312.1 28 Tgg/Cgg 0 Missense_Mutation A 6 PDE1A SNP 2 A G 183095267 183095267 Baylor PDE3A 5139 hgsc.bcm.edu GRCh37 12 20787946 20787946 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000359062.3:c.1957G>C p.Ala653Pro p.A653P ENST00000359062 NM_001244683.1 653 Gca/Cca 0 Missense_Mutation G 34 PDE3A SNP 12 G C 20679213 20679213 Baylor PIK3R4 30849 hgsc.bcm.edu GRCh37 3 130463426 130463426 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000356763.3:c.637G>C p.Glu213Gln p.E213Q ENST00000356763 NM_014602.2 213 Gaa/Caa 0 Missense_Mutation C 32 PIK3R4 SNP 3 C G 131946116 131946116 Baylor PLCH1 23007 hgsc.bcm.edu GRCh37 3 155232642 155232642 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000340059.7:c.1466C>A p.Ser489Tyr p.S489Y ENST00000340059 NM_001130960.1 489 tCt/tAt 0 Missense_Mutation G 33 PLCH1 SNP 3 G T 156715336 156715336 Baylor PRKCB 5579 hgsc.bcm.edu GRCh37 16 23999887 23999887 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000303531.7:c.264C>T p.Gly88= p.G88= ENST00000303531 NM_002738.6 88 ggC/ggT 0 Silent C 27 PRKCB SNP 16 C T 23907388 23907388 Baylor TMPRSS15 5651 hgsc.bcm.edu GRCh37 21 19701534 19701534 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000284885.3:c.1732G>A p.Asp578Asn p.D578N ENST00000284885 NM_002772.2 578 Gat/Aat 0 Missense_Mutation C 31 TMPRSS15 SNP 21 C T 18623405 18623405 Baylor RAD54L 8438 hgsc.bcm.edu GRCh37 1 46715736 46715736 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371975.4:c.155G>A p.Arg52Gln p.R52Q ENST00000371975 NM_003579.3 52 cGg/cAg 0 Missense_Mutation G 39 RAD54L SNP 1 G A 46488323 46488323 Baylor SCN2A 6326 hgsc.bcm.edu GRCh37 2 166198805 166198805 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357398.3:c.2389-1G>A p.X797_splice ENST00000357398 0 Splice_Site_SNP G 35 SCN2A SNP 2 G A 165907051 165907051 Baylor SEMA4A 64218 hgsc.bcm.edu GRCh37 1 156131244 156131244 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368285.3:c.918C>T p.His306= p.H306= ENST00000368285 NM_001193300.1 306 caC/caT 0 Silent C 19 SEMA4A SNP 1 C T 154397868 154397868 Baylor SMC2 10592 hgsc.bcm.edu GRCh37 9 106875659 106875659 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000286398.7:c.1317G>A p.Lys439= p.K439= ENST00000286398 NM_006444.2 439 aaG/aaA 0 Silent G 33 SMC2 SNP 9 G A 105915480 105915480 Baylor TET1 80312 hgsc.bcm.edu GRCh37 10 70332749 70332749 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373644.4:c.654G>C p.Leu218= p.L218= ENST00000373644 NM_030625.2 218 ctG/ctC 0 Silent G 47 TET1 SNP 10 G C 70002755 70002755 Baylor TMPO 7112 hgsc.bcm.edu GRCh37 12 98941441 98941441 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000343315.5:c.1050T>C p.Tyr350= p.Y350= ENST00000343315 350 taT/taC 0 Silent T 51 TMPO SNP 12 T C 97465572 97465572 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 Missense_Mutation T 49 TP53 SNP 17 T C 7518915 7518915 Baylor TRIM58 25893 hgsc.bcm.edu GRCh37 1 248039433 248039433 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000366481.3:c.1103C>A p.Pro368Gln p.P368Q ENST00000366481 NM_015431.3 368 cCa/cAa 0 Missense_Mutation C 21 TRIM58 SNP 1 C A 246106056 246106056 Baylor TTF2 8458 hgsc.bcm.edu GRCh37 1 117635421 117635421 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1627-01 TCGA-25-1627-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000369466.4:c.2874G>C p.Leu958Phe p.L958F ENST00000369466 NM_003594.3 958 ttG/ttC 0 Missense_Mutation G 45 TTF2 SNP 1 G C 117436944 117436944 Baylor IGSF21 84966 broad.mit.edu GRCh37 1 18703371 18703371 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000251296.1:c.1179C>T p.Asp393= p.D393= ENST00000251296 NM_032880.4 393 gaC/gaT 0 Silent C 19 IGSF21 SNP 1 C T 18575958 18575958 Broad NBL1 4681 broad.mit.edu GRCh37 1 19981646 19981646 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000289749.2:c.228C>T p.Thr76= p.T76= ENST00000289749 NM_182744.3 76 acC/acT 0 Silent C 22 NBL1 SNP 1 C T 19854233 19854233 Broad RLF 6018 broad.mit.edu GRCh37 1 40703591 40703591 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000372771.4:c.3217A>G p.Lys1073Glu p.K1073E ENST00000372771 NM_012421.3 1073 Aaa/Gaa 0 Missense_Mutation A 9 RLF SNP 1 A G 40476178 40476178 Broad ERI3 79033 broad.mit.edu GRCh37 1 44804760 44804760 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000372257.2:c.446T>C p.Leu149Pro p.L149P ENST00000372257 NM_024066.1 149 cTg/cCg 0 Missense_Mutation A 7 ERI3 SNP 1 A G 44577347 44577347 Broad DAB1 1600 broad.mit.edu GRCh37 1 57476834 57476834 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000371236.2:c.1556G>T p.Ser519Ile p.S519I ENST00000371236 519 aGc/aTc 0 Missense_Mutation C 28 DAB1 SNP 1 C A 57249422 57249422 Broad DCST2 127579 broad.mit.edu GRCh37 1 155005607 155005607 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000368424.3:c.402C>T p.Thr134= p.T134= ENST00000368424 NM_144622.2 134 acC/acT 0 Silent G 39 DCST2 SNP 1 G A 153272231 153272231 Broad PPP1R12B 4660 broad.mit.edu GRCh37 1 202464598 202464598 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000608999.1:c.2323A>T p.Met775Leu p.M775L ENST00000608999 NM_002481.3 775 Atg/Ttg 0 Missense_Mutation A 4 PPP1R12B SNP 1 A T 200731221 200731221 Broad MIA3 375056 broad.mit.edu GRCh37 1 222801726 222801726 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000344922.5:c.1164C>G p.Phe388Leu p.F388L ENST00000344922 NM_198551.2 388 ttC/ttG 0 Missense_Mutation C 32 MIA3 SNP 1 C G 220868349 220868349 Broad ZSWIM8 23053 broad.mit.edu GRCh37 10 75557149 75557149 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000398706.2:c.3448G>C p.Asp1150His p.D1150H ENST00000398706 NM_015037.3 1150 Gac/Cac 0 Missense_Mutation G 45 KIAA0913 SNP 10 G C 75227155 75227155 Broad ECHS1 1892 broad.mit.edu GRCh37 10 135180499 135180499 + splice_acceptor_variant Splice_Site SNP T T A novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000368547.3:c.515-2A>T p.X172_splice ENST00000368547 NM_004092.3 0 Splice_Site_SNP T 55 ECHS1 SNP 10 T A 135030489 135030489 Broad PTPRJ 5795 broad.mit.edu GRCh37 11 48146657 48146657 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000418331.2:c.1012G>A p.Gly338Ser p.G338S ENST00000418331 NM_002843.3 338 Ggc/Agc 0 Missense_Mutation G 47 PTPRJ SNP 11 G A 48103233 48103233 Broad MYO7A 4647 broad.mit.edu GRCh37 11 76869377 76869377 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000409709.3:c.904C>T p.Arg302Cys p.R302C ENST00000409709 NM_000260.3 302 Cgc/Tgc 0 Missense_Mutation C 23 MYO7A SNP 11 C T 76547025 76547025 Broad KIAA1377 57562 broad.mit.edu GRCh37 11 101815106 101815106 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000263468.8:c.359G>A p.Arg120His p.R120H ENST00000263468 NM_020802.2 120 cGt/cAt 0 Missense_Mutation G 40 KIAA1377 SNP 11 G A 101320316 101320316 Broad HOXC6 3223 broad.mit.edu GRCh37 12 54423477 54423477 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000243108.4:c.439A>C p.Ile147Leu p.I147L ENST00000243108 NM_004503.3 147 Atc/Ctc 0 Missense_Mutation A 12 HOXC6 SNP 12 A C 52709744 52709744 Broad XRCC6BP1 91419 broad.mit.edu GRCh37 12 58340808 58340808 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000300145.3:c.264C>T p.Cys88= p.C88= ENST00000300145 NM_033276.2 88 tgC/tgT 0 Silent C 27 XRCC6BP1 SNP 12 C T 56627075 56627075 Broad USP15 9958 broad.mit.edu GRCh37 12 62785021 62785021 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000280377.5:c.2045A>C p.Asp682Ala p.D682A ENST00000280377 NM_001252078.1 682 gAt/gCt 0 Missense_Mutation A 12 USP15 SNP 12 A C 61071288 61071288 Broad ANO4 121601 broad.mit.edu GRCh37 12 101490398 101490398 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000392979.3:c.1718C>T p.Thr573Ile p.T573I ENST00000392979 NM_178826.3 573 aCa/aTa 0 Missense_Mutation C 17 ANO4 SNP 12 C T 100014529 100014529 Broad MYL2 4633 broad.mit.edu GRCh37 12 111356989 111356989 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000228841.8:c.12G>A p.Lys4= p.K4= ENST00000228841 NM_000432.3 4 aaG/aaA 0 Silent C 32 MYL2 SNP 12 C T 109841372 109841372 Broad SERPINA3 12 broad.mit.edu GRCh37 14 95085792 95085792 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000467132.1:c.904T>C p.Ser302Pro p.S302P ENST00000467132 302 Tct/Cct 0 Missense_Mutation T 54 SERPINA3 SNP 14 T C 94155545 94155545 Broad BDKRB2 624 broad.mit.edu GRCh37 14 96707252 96707252 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000306005.3:c.587G>A p.Arg196Gln p.R196Q ENST00000306005 NM_000623.3 196 cGg/cAg 0 Missense_Mutation G 39 BDKRB2 SNP 14 G A 95777005 95777005 Broad FANCI 55215 broad.mit.edu GRCh37 15 89833454 89833454 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000310775.7:c.1832A>G p.Asp611Gly p.D611G ENST00000310775 NM_001113378.1 611 gAt/gGt 0 Missense_Mutation A 12 FANCI SNP 15 A G 87634458 87634458 Broad ZSCAN10 84891 broad.mit.edu GRCh37 16 3139670 3139670 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000252463.2:c.1600C>T p.Arg534Cys p.R534C ENST00000252463 NM_032805.1 534 Cgc/Tgc 0 Missense_Mutation G 38 ZSCAN10 SNP 16 G A 3079671 3079671 Broad SLC6A2 6530 broad.mit.edu GRCh37 16 55690634 55690634 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000219833.8:c.28G>T p.Val10Leu p.V10L ENST00000219833 NM_001172504.1 10 Gtg/Ttg 0 Missense_Mutation G 44 SLC6A2 SNP 16 G T 54248135 54248135 Broad HYDIN 54768 broad.mit.edu GRCh37 16 71004449 71004449 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000393567.2:c.5593G>C p.Asp1865His p.D1865H ENST00000393567 NM_001270974.1 1865 Gat/Cat 0 Missense_Mutation C 29 HYDIN SNP 16 C G 69561950 69561950 Broad LIG3 3980 broad.mit.edu GRCh37 17 33326340 33326340 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000378526.4:c.2128A>G p.Ile710Val p.I710V ENST00000378526 NM_013975.3 710 Atc/Gtc 0 Missense_Mutation A 4 LIG3 SNP 17 A G 30350453 30350453 Broad NAGLU 4669 broad.mit.edu GRCh37 17 40695488 40695488 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000225927.2:c.1464G>A p.Pro488= p.P488= ENST00000225927 NM_000263.3 488 ccG/ccA 0 Silent G 39 NAGLU SNP 17 G A 37949014 37949014 Broad DNAI2 64446 broad.mit.edu GRCh37 17 72301457 72301457 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000446837.2:c.1087C>T p.His363Tyr p.H363Y ENST00000446837 363 Cat/Tat 0 Missense_Mutation C 21 DNAI2 SNP 17 C T 69813052 69813052 Broad SMCHD1 23347 broad.mit.edu GRCh37 18 2697985 2697985 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000320876.6:c.1288C>T p.His430Tyr p.H430Y ENST00000320876 NM_015295.2 430 Cat/Tat 0 Missense_Mutation C 29 SMCHD1 SNP 18 C T 2687985 2687985 Broad FHOD3 80206 broad.mit.edu GRCh37 18 34340641 34340641 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000257209.4:c.3971C>T p.Ala1324Val p.A1324V ENST00000257209 NM_025135.2 1324 gCg/gTg 0 Missense_Mutation C 27 FHOD3 SNP 18 C T 32594639 32594639 Broad PDCD5 9141 broad.mit.edu GRCh37 19 33076810 33076810 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000590247.2:c.255G>C p.Glu85Asp p.E85D ENST00000590247 NM_004708.3 85 gaG/gaC 0 Missense_Mutation G 33 PDCD5 SNP 19 G C 37768650 37768650 Broad ZNF586 54807 broad.mit.edu GRCh37 19 58291154 58291154 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000396154.2:c.1199C>T p.Pro400Leu p.P400L ENST00000396154 NM_017652.3 400 cCt/cTt 0 Missense_Mutation C 24 ZNF586 SNP 19 C T 62982966 62982966 Broad APOB 338 broad.mit.edu GRCh37 2 21225496 21225496 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000233242.1:c.12798C>G p.Ile4266Met p.I4266M ENST00000233242 NM_000384.2 4266 atC/atG 0 Missense_Mutation G 33 APOB SNP 2 G C 21079001 21079001 Broad DRC1 92749 broad.mit.edu GRCh37 2 26647253 26647253 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000288710.2:c.471C>T p.Leu157= p.L157= ENST00000288710 NM_145038.2 157 ctC/ctT 0 Silent C 29 C2orf39 SNP 2 C T 26500757 26500757 Broad AGBL5 60509 broad.mit.edu GRCh37 2 27282174 27282174 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000360131.4:c.1991C>T p.Ser664Phe p.S664F ENST00000360131 NM_021831.5 664 tCc/tTc 0 Missense_Mutation C 30 AGBL5 SNP 2 C T 27135678 27135678 Broad PSD4 23550 broad.mit.edu GRCh37 2 113950108 113950108 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000245796.6:c.1780C>T p.Arg594Cys p.R594C ENST00000245796 NM_012455.2 594 Cgc/Tgc 0 Missense_Mutation C 19 PSD4 SNP 2 C T 113666579 113666579 Broad TTN 7273 broad.mit.edu GRCh37 2 179584151 179584151 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000589042.1:c.23966G>A p.Arg7989His p.R7989H ENST00000589042 NM_001267550.1 7989 cGc/cAc 0 Missense_Mutation C 27 TTN SNP 2 C T 179292396 179292396 Broad PRR21 643905 broad.mit.edu GRCh37 2 240982349 240982349 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000408934.1:c.51C>G p.Gly17= p.G17= ENST00000408934 NM_001080835.1 17 ggC/ggG 0 Silent G 34 LOC643905 SNP 2 G C 240631022 240631022 Broad ZNF334 55713 broad.mit.edu GRCh37 20 45130463 45130463 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000347606.4:c.1515T>C p.Ser505= p.S505= ENST00000347606 NM_018102.4 505 agT/agC 0 Silent A 10 ZNF334 SNP 20 A G 44563870 44563870 Broad MYO18B 84700 broad.mit.edu GRCh37 22 26243605 26243605 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000335473.7:c.3761G>T p.Arg1254Leu p.R1254L ENST00000335473 NM_032608.5 1254 cGt/cTt 0 Missense_Mutation G 40 MYO18B SNP 22 G T 24573605 24573605 Broad OR5H2 79310 broad.mit.edu GRCh37 3 98001888 98001888 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000355273.2:c.157C>T p.Leu53Phe p.L53F ENST00000355273 NM_001005482.1 53 Ctt/Ttt 0 Missense_Mutation C 32 OR5H2 SNP 3 C T 99484578 99484578 Broad MYH15 22989 broad.mit.edu GRCh37 3 108205362 108205362 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000273353.3:c.943G>A p.Val315Ile p.V315I ENST00000273353 NM_014981.1 315 Gta/Ata 0 Missense_Mutation C 18 MYH15 SNP 3 C T 109688052 109688052 Broad RNF13 11342 broad.mit.edu GRCh37 3 149613278 149613278 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000344229.3:c.340G>C p.Ala114Pro p.A114P ENST00000344229 NM_007282.4 114 Gca/Cca 0 Missense_Mutation G 34 RNF13 SNP 3 G C 151095968 151095968 Broad SI 6476 broad.mit.edu GRCh37 3 164739171 164739171 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000264382.3:c.3100A>T p.Ile1034Phe p.I1034F ENST00000264382 NM_001041.3 1034 Att/Ttt 0 Missense_Mutation T 50 SI SNP 3 T A 166221865 166221865 Broad EVC2 132884 broad.mit.edu GRCh37 4 5624324 5624324 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000344408.5:c.2441C>T p.Ala814Val p.A814V ENST00000344408 NM_147127.4 814 gCt/gTt 0 Missense_Mutation G 34 EVC2 SNP 4 G A 5675225 5675225 Broad CDS1 1040 broad.mit.edu GRCh37 4 85555073 85555073 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000295887.5:c.703C>G p.Leu235Val p.L235V ENST00000295887 NM_001263.3 235 Ctg/Gtg 0 Missense_Mutation C 32 CDS1 SNP 4 C G 85774097 85774097 Broad FABP2 2169 broad.mit.edu GRCh37 4 120240727 120240727 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000274024.3:c.312T>A p.Asn104Lys p.N104K ENST00000274024 NM_000134.3 104 aaT/aaA 0 Missense_Mutation A 16 FABP2 SNP 4 A T 120460175 120460175 Broad NIPBL 25836 broad.mit.edu GRCh37 5 36985864 36985864 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000282516.8:c.2582C>A p.Ser861Ter p.S861* ENST00000282516 NM_133433.3 861 tCa/tAa 0 Nonsense_Mutation C 29 NIPBL SNP 5 C A 37021621 37021621 Broad CYP39A1 51302 broad.mit.edu GRCh37 6 46563850 46563850 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000275016.2:c.939T>A p.Asp313Glu p.D313E ENST00000275016 NM_001278739.1 313 gaT/gaA 0 Missense_Mutation A 16 CYP39A1 SNP 6 A T 46671809 46671809 Broad PKHD1 5314 broad.mit.edu GRCh37 6 51524031 51524031 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000371117.3:c.10893T>C p.Tyr3631= p.Y3631= ENST00000371117 NM_138694.3 3631 taT/taC 0 Silent A 16 PKHD1 SNP 6 A G 51631990 51631990 Broad FAM184A 79632 broad.mit.edu GRCh37 6 119301436 119301436 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000338891.7:c.2168C>T p.Thr723Met p.T723M ENST00000338891 NM_024581.4 723 aCg/aTg 0 Missense_Mutation G 40 FAM184A SNP 6 G A 119343135 119343135 Broad THBS2 7058 broad.mit.edu GRCh37 6 169648555 169648555 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000366787.3:c.566G>C p.Arg189Pro p.R189P ENST00000366787 NM_003247.2 189 cGg/cCg 0 Missense_Mutation C 23 THBS2 SNP 6 C G 169390480 169390480 Broad PPP1R17 10842 broad.mit.edu GRCh37 7 31736586 31736586 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000342032.3:c.243T>C p.Phe81= p.F81= ENST00000342032 NM_006658.4 81 ttT/ttC 0 Silent T 64 C7orf16 SNP 7 T C 31703111 31703111 Broad MAGI2 9863 broad.mit.edu GRCh37 7 77789397 77789397 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000354212.4:c.2790C>A p.Gly930= p.G930= ENST00000354212 NM_012301.3 930 ggC/ggA 0 Silent G 34 MAGI2 SNP 7 G T 77627333 77627333 Broad CALCR 799 broad.mit.edu GRCh37 7 93108738 93108738 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000359558.2:c.187C>T p.Arg63Ter p.R63* ENST00000359558 NM_001164737.1 63 Cga/Tga 0 Nonsense_Mutation G 40 CALCR SNP 7 G A 92946674 92946674 Broad KCNS2 3788 broad.mit.edu GRCh37 8 99441338 99441338 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000287042.4:c.1131C>T p.Tyr377= p.Y377= ENST00000287042 NM_020697.2 377 taC/taT 0 Silent C 19 KCNS2 SNP 8 C T 99510514 99510514 Broad COL22A1 169044 broad.mit.edu GRCh37 8 139815148 139815148 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000303045.6:c.1524C>T p.Gly508= p.G508= ENST00000303045 NM_152888.1 508 ggC/ggT 0 Silent G 38 COL22A1 SNP 8 G A 139884330 139884330 Broad PTGDS 5730 broad.mit.edu GRCh37 9 139874450 139874450 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000371625.3:c.384C>A p.Tyr128Ter p.Y128* ENST00000371625 NM_000954.5 128 taC/taA 0 Nonsense_Mutation C 19 PTGDS SNP 9 C A 138994271 138994271 Broad MXRA5 25878 broad.mit.edu GRCh37 X 3242751 3242751 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000217939.6:c.975G>T p.Glu325Asp p.E325D ENST00000217939 NM_015419.3 325 gaG/gaT 0 Missense_Mutation C 28 MXRA5 SNP 23 C A 3252751 3252751 Broad WDR45 11152 broad.mit.edu GRCh37 X 48933303 48933303 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000356463.3:c.629C>A p.Ser210Ter p.S210* ENST00000356463 NM_007075.3 210 tCa/tAa 0 Nonsense_Mutation G 45 WDR45 SNP 23 G T 48820247 48820247 Broad WNK3 65267 broad.mit.edu GRCh37 X 54275418 54275418 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000354646.2:c.3363C>A p.Leu1121= p.L1121= ENST00000354646 NM_020922.4 1121 ctC/ctA 0 Silent G 33 WNK3 SNP 23 G T 54292143 54292143 Broad ARMCX1 51309 broad.mit.edu GRCh37 X 100808744 100808744 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000372829.3:c.831C>T p.Asn277= p.N277= ENST00000372829 NM_016608.1 277 aaC/aaT 0 Silent C 19 ARMCX1 SNP 23 C T 100695400 100695400 Broad PAK3 5063 broad.mit.edu GRCh37 X 110388130 110388130 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown x x x ENST00000360648.4:c.319A>T p.Ser107Cys p.S107C ENST00000360648 NM_001128168.1 107 Agt/Tgt 0 Missense_Mutation A 3 PAK3 SNP 23 A T 110274786 110274786 Broad TP53 7157 broad.mit.edu GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T rs11540652 byHapMap TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 Missense_Mutation C 23 TP53 SNP 17 C T 7518263 7518263 Broad RB1CC1 9821 broad.mit.edu GRCh37 8 53555083 53555085 + inframe_deletion In_Frame_Del DEL CTT CTT - novel Unknown TCGA-13-1496-01 TCGA-13-1496-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000025008.5:c.4163_4165del p.Glu1388del p.E1388del ENST00000025008 NM_014781.4 1388 gAAGtc/gtc 0 In_Frame_Del CTT 20 RB1CC1 DEL 8 - CTT 53717638 53717636 Broad ZDHHC11B 653082 genome.wustl.edu GRCh37 5 730566 730566 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000508859.2:c.1074G>C p.Pro358= p.P358= ENST00000508859 358 ccG/ccC 0 Silent C 31 ZDHHC11B SNP 5 C G 783566 783566 WashU MUC5B 727897 genome.wustl.edu GRCh37 11 1264295 1264295 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000529681.1:c.6185C>T p.Thr2062Ile p.T2062I ENST00000529681 NM_002458.2 2062 aCc/aTc 0 Missense_Mutation C 18 MUC5B SNP 11 C T 1220871 1220871 WashU OR1A1 8383 genome.wustl.edu GRCh37 17 3119217 3119217 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304094.1:c.303G>A p.Met101Ile p.M101I ENST00000304094 NM_014565.2 101 atG/atA 0 Missense_Mutation G 48 OR1A1 SNP 17 G A 3065967 3065967 WashU NDUFA9 4704 genome.wustl.edu GRCh37 12 4763472 4763472 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000266544.5:c.64G>T p.Ala22Ser p.A22S ENST00000266544 NM_005002.4 22 Gca/Tca 0 Missense_Mutation G 46 NDUFA9 SNP 12 G T 4633733 4633733 WashU OR52A1 23538 genome.wustl.edu GRCh37 11 5172994 5172994 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380367.1:c.606T>C p.Gly202= p.G202= ENST00000380367 202 ggT/ggC 0 Silent A 2 OR52A1 SNP 11 A G 5129570 5129570 WashU ADCY2 108 genome.wustl.edu GRCh37 5 7802364 7802364 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338316.4:c.2662G>A p.Val888Ile p.V888I ENST00000338316 NM_020546.2 888 Gtc/Atc 0 Missense_Mutation G 40 ADCY2 SNP 5 G A 7855364 7855364 WashU POTED 317754 genome.wustl.edu GRCh37 21 14992565 14992565 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299443.5:c.1004A>G p.Asp335Gly p.D335G ENST00000299443 NM_174981.3 335 gAt/gGt 0 Missense_Mutation A 12 POTED SNP 21 A G 13914436 13914436 WashU LSM3 27258 genome.wustl.edu GRCh37 3 14239604 14239604 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306024.3:c.297G>T p.Leu99= p.L99= ENST00000306024 NM_014463.2 99 ctG/ctT 0 Silent G 45 LSM3 SNP 3 G T 14214608 14214608 WashU CXADR 1525 genome.wustl.edu GRCh37 21 18924200 18924200 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000284878.7:c.344T>A p.Ile115Asn p.I115N ENST00000284878 NM_001338.4 115 aTt/aAt 0 Missense_Mutation T 52 CXADR SNP 21 T A 17846071 17846071 WashU SLCO1B1 10599 genome.wustl.edu GRCh37 12 21294579 21294579 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256958.2:c.71G>T p.Cys24Phe p.C24F ENST00000256958 NM_006446.4 24 tGc/tTc 0 Missense_Mutation G 46 SLCO1B1 SNP 12 G T 21185846 21185846 WashU KIAA0100 9703 genome.wustl.edu GRCh37 17 26966631 26966631 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000528896.2:c.1045C>T p.Arg349Cys p.R349C ENST00000528896 NM_014680.3 349 Cgc/Tgc 0 Missense_Mutation G 40 KIAA0100 SNP 17 G A 23990758 23990758 WashU PLB1 151056 genome.wustl.edu GRCh37 2 28843845 28843845 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327757.5:c.3527G>T p.Arg1176Met p.R1176M ENST00000327757 NM_153021.4 1176 aGg/aTg 0 Missense_Mutation G 35 PLB1 SNP 2 G T 28697349 28697349 WashU ALK 238 genome.wustl.edu GRCh37 2 29940556 29940556 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389048.3:c.675C>A p.Ser225Arg p.S225R ENST00000389048 NM_004304.4 225 agC/agA 0 Missense_Mutation G 34 ALK SNP 2 G T 29794060 29794060 WashU SKIV2L 6499 genome.wustl.edu GRCh37 6 31931858 31931858 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375394.2:c.1816C>T p.Arg606Cys p.R606C ENST00000375394 NM_006929.4 606 Cgc/Tgc 0 Missense_Mutation C 27 SKIV2L SNP 6 C T 32039837 32039837 WashU CLASP2 23122 genome.wustl.edu GRCh37 3 33614665 33614665 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000468888.2:c.2663G>T p.Trp888Leu p.W888L ENST00000468888 888 tGg/tTg 0 Missense_Mutation C 21 CLASP2 SNP 3 C A 33589669 33589669 WashU TRIOBP 11078 genome.wustl.edu GRCh37 22 38121683 38121683 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000406386.3:c.3120C>A p.Phe1040Leu p.F1040L ENST00000406386 NM_001039141.2 1040 ttC/ttA 0 Missense_Mutation C 32 TRIOBP SNP 22 C A 36451629 36451629 WashU SETD2 29072 genome.wustl.edu GRCh37 3 47163179 47163179 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409792.3:c.2947G>T p.Glu983Ter p.E983* ENST00000409792 NM_014159.6 983 Gaa/Taa 0 Nonsense_Mutation C 29 SETD2 SNP 3 C A 47138183 47138183 WashU CCDC71 64925 genome.wustl.edu GRCh37 3 49200748 49200748 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321895.6:c.894G>A p.Lys298= p.K298= ENST00000321895 NM_022903.3 298 aaG/aaA 0 Silent C 24 CCDC71 SNP 3 C T 49175752 49175752 WashU NRXN1 9378 genome.wustl.edu GRCh37 2 50724586 50724586 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000404971.1:c.2884C>A p.Gln962Lys p.Q962K ENST00000404971 NM_001135659.1 962 Caa/Aaa 0 Missense_Mutation G 46 NRXN1 SNP 2 G T 50578090 50578090 WashU PARS2 25973 genome.wustl.edu GRCh37 1 55223580 55223580 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371279.3:c.1255G>T p.Gly419Ter p.G419* ENST00000371279 NM_152268.3 419 Gga/Tga 0 Nonsense_Mutation C 23 PARS2 SNP 1 C A 54996168 54996168 WashU BAZ2A 11176 genome.wustl.edu GRCh37 12 57008850 57008850 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000551812.1:c.684A>G p.Ala228= p.A228= ENST00000551812 NM_013449.3 228 gcA/gcG 0 Silent T 55 BAZ2A SNP 12 T C 55295117 55295117 WashU KDR 3791 genome.wustl.edu GRCh37 4 55981161 55981161 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263923.4:c.538G>A p.Asp180Asn p.D180N ENST00000263923 NM_002253.2 180 Gac/Aac 0 Missense_Mutation C 30 KDR SNP 4 C T 55675918 55675918 WashU SIGLEC8 27181 genome.wustl.edu GRCh37 19 51955692 51955692 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321424.3:c.1441G>T p.Ala481Ser p.A481S ENST00000321424 NM_014442.2 481 Gca/Tca 0 Missense_Mutation C 25 SIGLEC8 SNP 19 C A 56647504 56647504 WashU SYCP2 10388 genome.wustl.edu GRCh37 20 58455357 58455357 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357552.3:c.2941+1G>A p.X981_splice ENST00000357552 0 Splice_Site_SNP C 20 SYCP2 SNP 20 C T 57888752 57888752 WashU MARK2 2011 genome.wustl.edu GRCh37 11 63667404 63667404 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000402010.2:c.590G>A p.Ser197Asn p.S197N ENST00000402010 NM_001039469.2 197 aGc/aAc 0 Missense_Mutation G 34 MARK2 SNP 11 G A 63423980 63423980 WashU BMP10 27302 genome.wustl.edu GRCh37 2 69093516 69093516 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295379.1:c.522A>T p.Lys174Asn p.K174N ENST00000295379 NM_014482.1 174 aaA/aaT 0 Missense_Mutation T 56 BMP10 SNP 2 T A 68947020 68947020 WashU SEC14L1 6397 genome.wustl.edu GRCh37 17 75208031 75208032 + splice_acceptor_variant,coding_sequence_variant Splice_Site DNP GA GA TT novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 GA GA GA TT GA GA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392476.2:c.1612-1_1612delinsTT p.X538_splice ENST00000392476 NM_001204408.1 0 Missense GA 33 SEC14L1 DNP 17 GA TT 72719627 72719626 WashU ALG1L6P genome.wustl.edu GRCh37 3 75469024 75469024 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000515248.1:n.487A>G *163* ENST00000515248 0 Missense_Mutation A 10 LOC339879 SNP 3 A G 75551714 75551714 WashU LRRTM1 347730 genome.wustl.edu GRCh37 2 80529619 80529619 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295057.3:c.1326G>T p.Val442= p.V442= ENST00000295057 NM_178839.4 442 gtG/gtT 0 Silent C 21 LRRTM1 SNP 2 C A 80383130 80383130 WashU GPRIN3 285513 genome.wustl.edu GRCh37 4 90169744 90169744 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000609438.1:c.1518C>A p.Asp506Glu p.D506E ENST00000609438 NM_198281.2 506 gaC/gaA 0 Missense_Mutation G 44 GPRIN3 SNP 4 G T 90388767 90388767 WashU SLC26A7 115111 genome.wustl.edu GRCh37 8 92350462 92350462 + splice_donor_variant Splice_Site SNP T T G novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000309536.2:c.878+2T>G p.X293_splice ENST00000309536 NM_134266.1 0 Splice_Site_SNP T 57 SLC26A7 SNP 8 T G 92419638 92419638 WashU CYP2C19 1557 genome.wustl.edu GRCh37 10 96535287 96535287 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371321.3:c.472A>C p.Lys158Gln p.K158Q ENST00000371321 NM_000769.1 158 Aaa/Caa 0 Missense_Mutation A 1 CYP2C19 SNP 10 A C 96525277 96525277 WashU TRMT10A 93587 genome.wustl.edu GRCh37 4 100479349 100479349 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273962.3:c.205C>T p.Arg69Cys p.R69C ENST00000273962 NM_152292.4 69 Cgc/Tgc 0 Missense_Mutation G 40 RG9MTD2 SNP 4 G A 100698372 100698372 WashU ERCC5 2073 genome.wustl.edu GRCh37 13 103510653 103510653 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000355739.4:c.557T>C p.Ile186Thr p.I186T ENST00000355739 NM_000123.3 186 aTa/aCa 0 Missense_Mutation T 49 ERCC5 SNP 13 T C 102308654 102308654 WashU MFSD9 84804 genome.wustl.edu GRCh37 2 103335468 103335468 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258436.5:c.836A>T p.Asn279Ile p.N279I ENST00000258436 NM_032718.3 279 aAc/aTc 0 Missense_Mutation T 60 MFSD9 SNP 2 T A 102701900 102701900 WashU FEM1C 56929 genome.wustl.edu GRCh37 5 114878877 114878877 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274457.3:c.314A>G p.His105Arg p.H105R ENST00000274457 NM_020177.2 105 cAt/cGt 0 Missense_Mutation T 51 FEM1C SNP 5 T C 114906776 114906776 WashU DFNB31 25861 genome.wustl.edu GRCh37 9 117228648 117228648 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000362057.3:c.862C>T p.Arg288Trp p.R288W ENST00000362057 NM_001173425.1 288 Cgg/Tgg 0 Missense_Mutation G 39 DFNB31 SNP 9 G A 116268469 116268469 WashU POLQ 10721 genome.wustl.edu GRCh37 3 121187162 121187162 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264233.5:c.6835C>T p.Pro2279Ser p.P2279S ENST00000264233 NM_199420.3 2279 Ccc/Tcc 0 Missense_Mutation G 41 POLQ SNP 3 G A 122669852 122669852 WashU HAS2 3037 genome.wustl.edu GRCh37 8 122640983 122640983 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303924.4:c.598G>A p.Ala200Thr p.A200T ENST00000303924 NM_005328.2 200 Gca/Aca 0 Missense_Mutation C 28 HAS2 SNP 8 C T 122710164 122710164 WashU MYLK 4638 genome.wustl.edu GRCh37 3 123348324 123348324 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360304.3:c.5111T>C p.Met1704Thr p.M1704T ENST00000360304 NM_053025.3 1704 aTg/aCg 0 Missense_Mutation A 8 MYLK SNP 3 A G 124831014 124831014 WashU TRMT11 60487 genome.wustl.edu GRCh37 6 126317171 126317171 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334379.5:c.197G>T p.Arg66Leu p.R66L ENST00000334379 NM_001031712.2 66 cGg/cTg 0 Missense_Mutation G 39 TRMT11 SNP 6 G T 126358864 126358864 WashU BIN1 274 genome.wustl.edu GRCh37 2 127827574 127827574 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316724.5:c.408C>A p.Ile136= p.I136= ENST00000316724 NM_139343.2 136 atC/atA 0 Silent G 45 BIN1 SNP 2 G T 127544044 127544044 WashU TRPC1 7220 genome.wustl.edu GRCh37 3 142522858 142522858 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000476941.1:c.1797C>A p.Phe599Leu p.F599L ENST00000476941 NM_001251845.1 599 ttC/ttA 0 Missense_Mutation C 32 TRPC1 SNP 3 C A 144005548 144005548 WashU FBXO30 84085 genome.wustl.edu GRCh37 6 146127275 146127275 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000237281.4:c.267C>T p.Cys89= p.C89= ENST00000237281 NM_032145.4 89 tgC/tgT 0 Silent G 34 FBXO30 SNP 6 G A 146168968 146168968 WashU THEM5 284486 genome.wustl.edu GRCh37 1 151823623 151823623 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368817.5:c.370G>T p.Gly124Ter p.G124* ENST00000368817 NM_182578.3 124 Gga/Tga 0 Nonsense_Mutation C 24 THEM5 SNP 1 C A 150090247 150090247 WashU NES 10763 genome.wustl.edu GRCh37 1 156640550 156640550 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000368223.3:c.3430C>A p.Leu1144Ile p.L1144I ENST00000368223 NM_006617.1 1144 Cta/Ata 0 Missense_Mutation G 35 NES SNP 1 G T 154907174 154907174 WashU OR10K1 391109 genome.wustl.edu GRCh37 1 158435794 158435794 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000289451.2:c.443C>A p.Ala148Asp p.A148D ENST00000289451 NM_001004473.1 148 gCc/gAc 0 Missense_Mutation C 26 OR10K1 SNP 1 C A 156702418 156702418 WashU TNIK 23043 genome.wustl.edu GRCh37 3 170819364 170819364 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000436636.2:c.2465C>G p.Pro822Arg p.P822R ENST00000436636 NM_015028.2 822 cCa/cGa 0 Missense_Mutation G 47 TNIK SNP 3 G C 172302058 172302058 WashU CHRNA1 1134 genome.wustl.edu GRCh37 2 175618202 175618202 + intron_variant Intron SNP G G T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261007.5:c.853+29C>A *285* ENST00000261007 NM_001039523.2 0 Nonsense_Mutation G 34 CHRNA1 SNP 2 G T 175326448 175326448 WashU TTN 7273 genome.wustl.edu GRCh37 2 179436090 179436090 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.74769C>A p.Asp24923Glu p.D24923E ENST00000589042 NM_001267550.1 24923 gaC/gaA 0 Missense_Mutation G 48 TTN SNP 2 G T 179144336 179144336 WashU SDPR 8436 genome.wustl.edu GRCh37 2 192711271 192711271 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304141.4:c.381G>A p.Ala127= p.A127= ENST00000304141 NM_004657.5 127 gcG/gcA 0 Silent C 23 SDPR SNP 2 C T 192419516 192419516 WashU ZDHHC19 131540 genome.wustl.edu GRCh37 3 195938078 195938078 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296326.3:c.109C>T p.Leu37= p.L37= ENST00000296326 NM_001039617.1 37 Ctg/Ttg 0 Silent G 34 ZDHHC19 SNP 3 G A 197422475 197422475 WashU SATB2 23314 genome.wustl.edu GRCh37 2 200137336 200137336 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000417098.1:c.1800G>A p.Ala600= p.A600= ENST00000417098 NM_001172509.1 600 gcG/gcA 0 Silent C 27 SATB2 SNP 2 C T 199845581 199845581 WashU SYT2 127833 genome.wustl.edu GRCh37 1 202568418 202568418 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367267.1:c.981C>A p.Thr327= p.T327= ENST00000367267 NM_001136504.1 327 acC/acA 0 Silent G 39 SYT2 SNP 1 G T 200835041 200835041 WashU LGALS8 3964 genome.wustl.edu GRCh37 1 236700861 236700861 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000526589.1:c.110G>A p.Gly37Glu p.G37E ENST00000526589 37 gGg/gAg 0 Missense_Mutation G 43 LGALS8 SNP 1 G A 234767484 234767484 WashU RYR2 6262 genome.wustl.edu GRCh37 1 237777438 237777438 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366574.2:c.5010C>G p.His1670Gln p.H1670Q ENST00000366574 NM_001035.2 1670 caC/caG 0 Missense_Mutation C 18 RYR2 SNP 1 C G 235844061 235844061 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577124 7577124 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 C C C - C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.814delG p.Val272CysfsTer73 p.V272Cfs*73 ENST00000269305 NM_001126112.2 272 Gtg/tg 0 Frame_Shift_Del C 18 TP53 DEL 17 C - 7517849 7517849 WashU APLP2 334 genome.wustl.edu GRCh37 11 130010339 130010339 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263574.5:c.1920G>T p.Glu640Asp p.E640D ENST00000263574 NM_001642.2 640 gaG/gaT 0 Missense_Mutation G 33 APLP2 SNP 11 G T 129515549 129515549 WashU RBBP6 5930 genome.wustl.edu GRCh37 16 24560271 24560271 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319715.4:c.272G>A p.Arg91Gln p.R91Q ENST00000319715 NM_006910.4 91 cGa/cAa 0 Missense_Mutation G 37 RBBP6 SNP 16 G A 24467772 24467772 WashU MYH15 22989 genome.wustl.edu GRCh37 3 108205366 108205366 + synonymous_variant Silent SNP G G C Unknown TCGA-24-1427-01 TCGA-24-1427-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000273353.3:c.939C>G p.Leu313= p.L313= ENST00000273353 NM_014981.1 313 ctC/ctG 0 Silent G 41 MYH15 SNP 3 G C 109688056 109688056 WashU ABCF1 23 hgsc.bcm.edu GRCh37 6 30558467 30558467 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000326195.8:c.2527C>T p.Pro843Ser p.P843S ENST00000326195 NM_001025091.1 843 Ccc/Tcc 0 Missense_Mutation C 26 ABCF1 SNP 6 C T 30666446 30666446 Baylor ACTR8 93973 hgsc.bcm.edu GRCh37 3 53904167 53904167 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000335754.3:c.1573G>C p.Asp525His p.D525H ENST00000335754 NM_022899.4 525 Gac/Cac 0 Missense_Mutation C 29 ACTR8 SNP 3 C G 53879207 53879207 Baylor ADAMTSL2 9719 hgsc.bcm.edu GRCh37 9 136405833 136405834 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354484.4:c.527dup p.Arg177AlafsTer10 p.R177Afs*10 ENST00000354484 NM_001145320.1 176 ctg/cTtg 0 Frame_Shift_Ins - 24 ADAMTSL2 INS 9 - T 135395655 135395654 Baylor ADCY7 113 hgsc.bcm.edu GRCh37 16 50341013 50341014 + inframe_insertion In_Frame_Ins INS - - GTG novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000394697.2:c.1806_1807insTGG p.Leu602_Ile603insTrp p.L602_I603insW ENST00000394697 602 ctg/ctGTGg 0 In_Frame_Ins - 55 ADCY7 INS 16 - GTG 48898515 48898514 Baylor ADH4 127 hgsc.bcm.edu GRCh37 4 100063890 100063890 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265512.7:c.60G>T p.Lys20Asn p.K20N ENST00000265512 NM_000670.3 20 aaG/aaT 0 Missense_Mutation C 28 ADH4 SNP 4 C A 100282913 100282913 Baylor AFF2 2334 hgsc.bcm.edu GRCh37 X 148049172 148049172 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370460.2:c.3217G>T p.Asp1073Tyr p.D1073Y ENST00000370460 NM_002025.3 1073 Gat/Tat 0 Missense_Mutation G 45 AFF2 SNP 23 G T 147856866 147856866 Baylor AHNAK2 113146 hgsc.bcm.edu GRCh37 14 105413319 105413320 + frameshift_variant Frame_Shift_Del DEL GA GA - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 GA GA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000333244.5:c.8468_8469del p.Phe2823TrpfsTer17 p.F2823Wfs*17 ENST00000333244 NM_138420.2 2823 tTC/t 0 Frame_Shift_Del GA 37 AHNAK2 DEL 14 GA - 104484365 104484364 Baylor ALOX15B 247 hgsc.bcm.edu GRCh37 17 7942501 7942501 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380183.4:c.28A>C p.Thr10Pro p.T10P ENST00000380183 NM_001141.2 10 Acc/Ccc 0 Missense_Mutation A 6 ALOX15B SNP 17 A C 7883226 7883226 Baylor ANXA11 311 hgsc.bcm.edu GRCh37 10 81930613 81930613 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000438331.1:c.114G>T p.Gly38= p.G38= ENST00000438331 NM_145869.1 38 ggG/ggT 0 Silent C 26 ANXA11 SNP 10 C A 81920593 81920593 Baylor AP2A2 161 hgsc.bcm.edu GRCh37 11 993375 993375 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000448903.2:c.1544G>A p.Arg515Lys p.R515K ENST00000448903 NM_012305.3 515 aGa/aAa 0 Missense_Mutation G 33 AP2A2 SNP 11 G A 983375 983375 Baylor AQP7 364 hgsc.bcm.edu GRCh37 9 33386989 33386989 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000297988.1:c.246G>C p.Val82= p.V82= ENST00000297988 NM_001170.1 82 gtG/gtC 0 Silent C 25 AQP7 SNP 9 C G 33376989 33376989 Baylor ARFGAP2 84364 hgsc.bcm.edu GRCh37 11 47197456 47197456 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000524782.1:c.210del p.Asn71ThrfsTer7 p.N71Tfs*7 ENST00000524782 NM_032389.4 70 tcC/tc 0 Frame_Shift_Del G 47 ARFGAP2 DEL 11 G - 47154032 47154032 Baylor ARHGEF15 22899 hgsc.bcm.edu GRCh37 17 8219206 8219207 + stop_gained,protein_altering_variant Nonsense_Mutation INS - - ATT novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361926.3:c.1556_1557insTTA p.Glu519delinsAspTer p.E519delinsD* ENST00000361926 NM_173728.3 519 gag/gATTag 0 In_Frame_Ins - 41 ARHGEF15 INS 17 - ATT 8159932 8159931 Baylor ARHGEF18 23370 hgsc.bcm.edu GRCh37 19 7518482 7518482 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359920.6:c.1421A>T p.Asp474Val p.D474V ENST00000359920 NM_001130955.1 474 gAc/gTc 0 Missense_Mutation A 10 ARHGEF18 SNP 19 A T 7424482 7424482 Baylor ASPH 444 hgsc.bcm.edu GRCh37 8 62550514 62550514 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000379454.4:c.881T>C p.Ile294Thr p.I294T ENST00000379454 NM_004318.3 294 aTt/aCt 0 Missense_Mutation A 4 ASPH SNP 8 A G 62713068 62713068 Baylor ATP2B2 491 hgsc.bcm.edu GRCh37 3 10401757 10401757 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360273.2:c.1710G>C p.Glu570Asp p.E570D ENST00000360273 NM_001001331.2 570 gaG/gaC 0 Missense_Mutation C 20 ATP2B2 SNP 3 C G 10376757 10376757 Baylor AVIL 10677 hgsc.bcm.edu GRCh37 12 58201432 58201432 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000257861.3:c.1273C>A p.Leu425Met p.L425M ENST00000257861 NM_006576.3 425 Ctg/Atg 0 Missense_Mutation G 33 AVIL SNP 12 G T 56487699 56487699 Baylor AXIN2 8313 hgsc.bcm.edu GRCh37 17 63554371 63554371 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000307078.5:c.368A>C p.Lys123Thr p.K123T ENST00000307078 NM_004655.3 123 aAg/aCg 0 Missense_Mutation T 56 AXIN2 SNP 17 T G 60984833 60984833 Baylor BLOC1S3 388552 hgsc.bcm.edu GRCh37 19 45683137 45683137 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000433642.2:c.583del p.Glu195ArgfsTer30 p.E195Rfs*30 ENST00000433642 NM_212550.3 195 Gag/ag 0 Frame_Shift_Del G 45 BLOC1S3 DEL 19 G - 50374977 50374977 Baylor BMPR2 659 hgsc.bcm.edu GRCh37 2 203420662 203420662 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374580.4:c.2274G>A p.Leu758= p.L758= ENST00000374580 NM_001204.6 758 ttG/ttA 0 Silent G 46 BMPR2 SNP 2 G A 203128907 203128907 Baylor BNC1 646 hgsc.bcm.edu GRCh37 15 83932595 83932595 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000345382.2:c.1408C>A p.Pro470Thr p.P470T ENST00000345382 NM_001717.3 470 Cca/Aca 0 Missense_Mutation G 43 BNC1 SNP 15 G T 81723599 81723599 Baylor BPIFC 254240 hgsc.bcm.edu GRCh37 22 32815387 32815387 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397452.1:c.1222C>T p.Arg408Cys p.R408C ENST00000397452 408 Cgc/Tgc 0 Missense_Mutation G 39 BPIL2 SNP 22 G A 31145387 31145387 Baylor BRCA2 675 hgsc.bcm.edu GRCh37 13 32972481 32972481 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380152.3:c.9831del p.Pro3278LeufsTer35 p.P3278Lfs*35 ENST00000380152 3277 ctG/ct 0 Frame_Shift_Del G 46 BRCA2 DEL 13 G - 31870481 31870481 Baylor FAM69C 125704 hgsc.bcm.edu GRCh37 18 72103737 72103737 + frameshift_variant,stop_lost Frame_Shift_Del DEL T T - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000343998.6:c.1259del p.Ter420CysfsTer14 p.*420Cfs*14 ENST00000343998 NM_001044369.2 420 tAg/tg 0 Frame_Shift_Del T 53 FAM69C DEL 18 T - 70254717 70254717 Baylor C6orf132 647024 hgsc.bcm.edu GRCh37 6 42110164 42110164 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000341865.4:c.19del p.Val7CysfsTer55 p.V7Cfs*55 ENST00000341865 NM_001164446.1 7 Gtg/tg 0 Frame_Shift_Del C 18 C6orf132 DEL 6 C - 42218142 42218142 Baylor C9orf96 169436 hgsc.bcm.edu GRCh37 9 136265611 136265612 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371957.3:c.1152_1153insC p.Val385ArgfsTer159 p.V385Rfs*159 ENST00000371957 NM_153710.4 384 -/C 0 Frame_Shift_Ins - 51 C9orf96 INS 9 - C 135255433 135255432 Baylor CASP2 835 hgsc.bcm.edu GRCh37 7 142985577 142985577 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310447.5:c.29C>T p.Ser10Phe p.S10F ENST00000310447 NM_032982.3 10 tCc/tTc 0 Missense_Mutation C 30 CASP2 SNP 7 C T 142695699 142695699 Baylor CASP9 842 hgsc.bcm.edu GRCh37 1 15831240 15831240 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000333868.5:c.734A>C p.Gln245Pro p.Q245P ENST00000333868 245 cAg/cCg 0 Missense_Mutation T 55 CASP9 SNP 1 T G 15703827 15703827 Baylor CCDC155 147872 hgsc.bcm.edu GRCh37 19 49897817 49897817 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000447857.3:c.128C>T p.Ala43Val p.A43V ENST00000447857 NM_144688.4 43 gCt/gTt 0 Missense_Mutation C 28 CCDC155 SNP 19 C T 54589629 54589629 Baylor CCDC88A 55704 hgsc.bcm.edu GRCh37 2 55646004 55646004 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000336838.6:c.112del p.Glu38AsnfsTer11 p.E38Nfs*11 ENST00000336838 38 Gaa/aa 0 Frame_Shift_Del C 29 CCDC88A DEL 2 C - 55499508 55499508 Baylor CD97 976 hgsc.bcm.edu GRCh37 19 14517910 14517910 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000242786.5:c.2245T>C p.Leu749= p.L749= ENST00000242786 NM_078481.3 749 Ttg/Ctg 0 Silent T 60 CD97 SNP 19 T C 14378910 14378910 Baylor CETN1 1068 hgsc.bcm.edu GRCh37 18 580475 580475 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000327228.3:c.69del p.Glu24SerfsTer30 p.E24Sfs*30 ENST00000327228 NM_004066.1 23 Ccc/cc 0 Frame_Shift_Del C 26 CETN1 DEL 18 C - 570475 570475 Baylor CHMP1B 57132 hgsc.bcm.edu GRCh37 18 11851896 11851896 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000526991.2:c.386C>T p.Thr129Met p.T129M ENST00000526991 NM_020412.4 129 aCg/aTg 0 Missense_Mutation C 19 CHMP1B SNP 18 C T 11841896 11841896 Baylor CHMP4A 29082 hgsc.bcm.edu GRCh37 14 24680630 24680630 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000347519.6:c.479A>C p.Tyr160Ser p.Y160S ENST00000347519 NM_014169.3 160 tAc/tCc 0 Missense_Mutation T 57 CHMP4A SNP 14 T G 23750470 23750470 Baylor CHRNA2 1135 hgsc.bcm.edu GRCh37 8 27327474 27327475 + frameshift_variant Frame_Shift_Ins INS - - GGGTGGA novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000407991.1:c.97_98insTCCACCC p.Pro33LeufsTer29 p.P33Lfs*29 ENST00000407991 NM_000742.3 33 cct/cTCCACCCct 0 Frame_Shift_Ins - 35 CHRNA2 INS 8 - GGGTGGA 27383392 27383391 Baylor CNGB1 1258 hgsc.bcm.edu GRCh37 16 57957184 57957184 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000251102.8:c.1636G>T p.Asp546Tyr p.D546Y ENST00000251102 NM_001297.4 546 Gac/Tac 0 Missense_Mutation C 30 CNGB1 SNP 16 C A 56514685 56514685 Baylor COASY 80347 hgsc.bcm.edu GRCh37 17 40716173 40716173 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000590958.1:c.982A>G p.Asn328Asp p.N328D ENST00000590958 328 Aac/Gac 0 Missense_Mutation A 5 COASY SNP 17 A G 37969699 37969699 Baylor COL9A2 1298 hgsc.bcm.edu GRCh37 1 40779891 40779892 + frameshift_variant Frame_Shift_Ins INS - - GA novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372748.3:c.234_235insTC p.Lys79SerfsTer8 p.K79Sfs*8 ENST00000372748 NM_001852.3 78 -/TC 0 Frame_Shift_Ins - 62 COL9A2 INS 1 - GA 40552479 40552478 Baylor COMP 1311 hgsc.bcm.edu GRCh37 19 18895048 18895048 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000222271.2:c.2040G>C p.Lys680Asn p.K680N ENST00000222271 NM_000095.2 680 aaG/aaC 0 Missense_Mutation C 20 COMP SNP 19 C G 18756048 18756048 Baylor CRLF1 9244 hgsc.bcm.edu GRCh37 19 18707727 18707728 + frameshift_variant Frame_Shift_Del DEL CG CG - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 CG CG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000392386.3:c.829_830del p.Arg277SerfsTer52 p.R277Sfs*52 ENST00000392386 NM_004750.4 277 CGa/a 0 Frame_Shift_Del CG 31 CRLF1 DEL 19 CG - 18568728 18568727 Baylor CST9 128822 hgsc.bcm.edu GRCh37 20 23584223 23584223 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000376971.3:c.404G>C p.Ser135Thr p.S135T ENST00000376971 NM_001008693.2 135 aGc/aCc 0 Missense_Mutation C 28 CST9 SNP 20 C G 23532223 23532223 Baylor CYFIP1 23191 hgsc.bcm.edu GRCh37 15 22993077 22993077 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000313077.7:c.2964G>C p.Glu988Asp p.E988D ENST00000313077 NM_014608.2 988 gaG/gaC 0 Missense_Mutation G 34 CYFIP1 SNP 15 G C 20544518 20544518 Baylor DACH1 1602 hgsc.bcm.edu GRCh37 13 72147085 72147085 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000305425.4:c.1192G>A p.Ala398Thr p.A398T ENST00000305425 NM_080759.4 398 Gca/Aca 0 Missense_Mutation C 28 DACH1 SNP 13 C T 71045086 71045086 Baylor DDX21 9188 hgsc.bcm.edu GRCh37 10 70723144 70723144 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354185.4:c.705G>A p.Gly235= p.G235= ENST00000354185 NM_001256910.1 235 ggG/ggA 0 Silent G 41 DDX21 SNP 10 G A 70393150 70393150 Baylor DDX25 29118 hgsc.bcm.edu GRCh37 11 125788554 125788555 + inframe_insertion In_Frame_Ins INS - - GAT novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263576.6:c.1074_1076dup p.Met358dup p.M358dup ENST00000263576 NM_013264.4 357 gag/gaGATg 0 In_Frame_Ins - 11 DDX25 INS 11 - GAT 125293765 125293764 Baylor DDX52 11056 hgsc.bcm.edu GRCh37 17 36002175 36002175 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000349699.2:c.250G>A p.Glu84Lys p.E84K ENST00000349699 NM_007010.3 84 Gag/Aag 0 Missense_Mutation C 30 DDX52 SNP 17 C T 33076288 33076288 Baylor DIP2C 22982 hgsc.bcm.edu GRCh37 10 391048 391048 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000280886.6:c.3234del p.Ser1079ValfsTer6 p.S1079Vfs*6 ENST00000280886 NM_014974.2 1078 gtG/gt 0 Frame_Shift_Del C 29 DIP2C DEL 10 C - 381048 381048 Baylor DLG5 9231 hgsc.bcm.edu GRCh37 10 79595594 79595594 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372391.2:c.1524G>T p.Glu508Asp p.E508D ENST00000372391 NM_004747.3 508 gaG/gaT 0 Missense_Mutation C 28 DLG5 SNP 10 C A 79265600 79265600 Baylor DNAH1 25981 hgsc.bcm.edu GRCh37 3 52404172 52404174 + inframe_deletion In_Frame_Del DEL CAA CAA - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 CAA CAA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000420323.2:c.6186_6188del p.Thr2063del p.T2063del ENST00000420323 NM_015512.4 2062 tCAAcc/tcc 0 In_Frame_Del CAA 29 DNAH1 DEL 3 CAA - 52379214 52379212 Baylor DNAH10 196385 hgsc.bcm.edu GRCh37 12 124415898 124415898 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000409039.3:c.12442del p.Ala4148ProfsTer60 p.A4148Pfs*60 ENST00000409039 NM_207437.3 4147 gaG/ga 0 Frame_Shift_Del G 35 DNAH10 DEL 12 G - 122981851 122981851 Baylor DNM1 1759 hgsc.bcm.edu GRCh37 9 131010964 131010964 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372923.3:c.2008A>G p.Met670Val p.M670V ENST00000372923 NM_004408.2 670 Atg/Gtg 0 Missense_Mutation A 8 DNM1 SNP 9 A G 130050785 130050785 Baylor DXO 1797 hgsc.bcm.edu GRCh37 6 31937677 31937677 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375349.3:c.1168C>A p.Pro390Thr p.P390T ENST00000375349 390 Ccc/Acc 0 Missense_Mutation G 43 DOM3Z SNP 6 G T 32045656 32045656 Baylor DXO 1797 hgsc.bcm.edu GRCh37 6 31939279 31939279 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375349.3:c.174C>A p.Arg58= p.R58= ENST00000375349 58 cgC/cgA 0 Silent G 42 DOM3Z SNP 6 G T 32047258 32047258 Baylor DPEP3 64180 hgsc.bcm.edu GRCh37 16 68009858 68009859 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000268793.4:c.1351_1352insT p.Pro451LeufsTer91 p.P451Lfs*91 ENST00000268793 NM_022357.3 451 cca/cTca 0 Frame_Shift_Ins - 47 DPEP3 INS 16 - A 66567360 66567359 Baylor DRG2 1819 hgsc.bcm.edu GRCh37 17 18003917 18003920 + frameshift_variant Frame_Shift_Del DEL CAGT CAGT - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 CAGT CAGT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000225729.3:c.577_580del p.Val193ArgfsTer2 p.V193Rfs*2 ENST00000225729 NM_001388.4 192 aCAGTc/ac 0 Frame_Shift_Del CAGT 17 DRG2 DEL 17 CAGT - 17944645 17944642 Baylor DYSF 8291 hgsc.bcm.edu GRCh37 2 71795346 71795346 + synonymous_variant Silent SNP A A C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000410020.3:c.2742A>C p.Thr914= p.T914= ENST00000410020 NM_001130987.1 914 acA/acC 0 Silent A 5 DYSF SNP 2 A C 71648854 71648854 Baylor ECEL1 9427 hgsc.bcm.edu GRCh37 2 233347595 233347596 + frameshift_variant Frame_Shift_Del DEL CT CT - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 CT CT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000304546.1:c.1650_1651del p.Val551Ter p.V551* ENST00000304546 NM_004826.2 550 tcAGtt/tctt 0 Frame_Shift_Del CT 20 ECEL1 DEL 2 CT - 233055840 233055839 Baylor ESPL1 9700 hgsc.bcm.edu GRCh37 12 53663734 53663734 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000257934.4:c.1008G>A p.Leu336= p.L336= ENST00000257934 NM_012291.4 336 ttG/ttA 0 Silent G 48 ESPL1 SNP 12 G A 51950001 51950001 Baylor EXOSC10 5394 hgsc.bcm.edu GRCh37 1 11141255 11141255 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000376936.4:c.1321A>C p.Thr441Pro p.T441P ENST00000376936 NM_001001998.1 441 Acc/Ccc 0 Missense_Mutation T 59 EXOSC10 SNP 1 T G 11063842 11063842 Baylor FAM193B 54540 hgsc.bcm.edu GRCh37 5 176963526 176963526 + synonymous_variant Silent SNP A A C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000514747.1:c.909T>G p.Thr303= p.T303= ENST00000514747 NM_001190946.1 303 acT/acG 0 Silent A 11 FAM193B SNP 5 A C 176896132 176896132 Baylor FOSB 2354 hgsc.bcm.edu GRCh37 19 45976079 45976079 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000353609.3:c.826C>T p.Leu276= p.L276= ENST00000353609 NM_006732.2 276 Ctg/Ttg 0 Silent C 24 FOSB SNP 19 C T 50667919 50667919 Baylor FRMPD1 22844 hgsc.bcm.edu GRCh37 9 37745493 37745494 + frameshift_variant Frame_Shift_Del DEL GT GT - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 GT GT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000539465.1:c.3464_3465del p.Gly1155GlufsTer24 p.G1155Efs*24 ENST00000539465 1155 gGT/g 0 Frame_Shift_Del GT 44 FRMPD1 DEL 9 GT - 37735494 37735493 Baylor FYB 2533 hgsc.bcm.edu GRCh37 5 39202368 39202368 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000540520.1:c.725G>C p.Arg242Thr p.R242T ENST00000540520 NM_001243093.1 242 aGg/aCg 0 Missense_Mutation C 24 FYB SNP 5 C G 39238125 39238125 Baylor GADD45B 4616 hgsc.bcm.edu GRCh37 19 2477147 2477148 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000215631.4:c.268dup p.Val90GlyfsTer94 p.V90Gfs*94 ENST00000215631 NM_015675.3 89 -/G 0 Frame_Shift_Ins - 31 GADD45B INS 19 - G 2428148 2428147 Baylor GLG1 2734 hgsc.bcm.edu GRCh37 16 74499603 74499603 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000205061.5:c.2638C>T p.Leu880Phe p.L880F ENST00000205061 NM_012201.5 880 Ctc/Ttc 0 Missense_Mutation G 35 GLG1 SNP 16 G A 73057104 73057104 Baylor GLI1 2735 hgsc.bcm.edu GRCh37 12 57865802 57865802 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000228682.2:c.3279A>T p.Arg1093Ser p.R1093S ENST00000228682 NM_005269.2 1093 agA/agT 0 Missense_Mutation A 12 GLI1 SNP 12 A T 56152069 56152069 Baylor GRIN3A 116443 hgsc.bcm.edu GRCh37 9 104375703 104375703 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000361820.3:c.2721G>T p.Trp907Cys p.W907C ENST00000361820 NM_133445.2 907 tgG/tgT 0 Missense_Mutation C 18 GRIN3A SNP 9 C A 103415524 103415524 Baylor GSDMB 55876 hgsc.bcm.edu GRCh37 17 38063235 38063235 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000418519.1:c.706G>T p.Asp236Tyr p.D236Y ENST00000418519 NM_001165958.1 236 Gat/Tat 0 Missense_Mutation C 30 GSDMB SNP 17 C A 35316761 35316761 Baylor GSG2 83903 hgsc.bcm.edu GRCh37 17 3628811 3628811 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000325418.4:c.1582A>T p.Thr528Ser p.T528S ENST00000325418 NM_031965.2 528 Acc/Tcc 0 Missense_Mutation A 2 GSG2 SNP 17 A T 3575560 3575560 Baylor IQSEC2 23096 hgsc.bcm.edu GRCh37 X 53279530 53279530 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000396435.3:c.2228A>C p.Asp743Ala p.D743A ENST00000396435 NM_001111125.2 743 gAc/gCc 0 Missense_Mutation T 58 IQSEC2 SNP 23 T G 53296255 53296255 Baylor IRF6 3664 hgsc.bcm.edu GRCh37 1 209964112 209964112 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367021.3:c.788A>T p.Glu263Val p.E263V ENST00000367021 NM_006147.3 263 gAg/gTg 0 Missense_Mutation T 54 IRF6 SNP 1 T A 208030735 208030735 Baylor KAT2A 2648 hgsc.bcm.edu GRCh37 17 40272303 40272303 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000225916.5:c.549C>G p.Phe183Leu p.F183L ENST00000225916 NM_021078.2 183 ttC/ttG 0 Missense_Mutation G 45 KAT2A SNP 17 G C 37525829 37525829 Baylor KAZALD1 81621 hgsc.bcm.edu GRCh37 10 102824042 102824042 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370200.5:c.536A>G p.Tyr179Cys p.Y179C ENST00000370200 NM_030929.4 179 tAt/tGt 0 Missense_Mutation A 16 KAZALD1 SNP 10 A G 102814032 102814032 Baylor KCNA6 3742 hgsc.bcm.edu GRCh37 12 4919495 4919496 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000433855.1:c.288_289insA p.Leu97ThrfsTer69 p.L97Tfs*69 ENST00000433855 NM_002235.3 96 -/A 0 Frame_Shift_Ins - 30 KCNA6 INS 12 - A 4789757 4789756 Baylor KCNA6 3742 hgsc.bcm.edu GRCh37 12 4919678 4919679 + frameshift_variant Frame_Shift_Del DEL GC GC - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 GC GC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000433855.1:c.473_474del p.Arg158ProfsTer7 p.R158Pfs*7 ENST00000433855 NM_002235.3 157 caGCgc/cagc 0 Frame_Shift_Del GC 34 KCNA6 DEL 12 GC - 4789940 4789939 Baylor KCNJ12 3768 hgsc.bcm.edu GRCh37 17 21318948 21318948 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000583088.1:c.294C>T p.Phe98= p.F98= ENST00000583088 NM_021012.4 98 ttC/ttT 0 Silent C 31 KCNJ12 SNP 17 C T 21259541 21259541 Baylor KIAA1109 84162 hgsc.bcm.edu GRCh37 4 123117898 123117898 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264501.4:c.1161G>A p.Met387Ile p.M387I ENST00000264501 387 atG/atA 0 Missense_Mutation G 45 KIAA1109 SNP 4 G A 123337348 123337348 Baylor EPG5 57724 hgsc.bcm.edu GRCh37 18 43496072 43496072 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000282041.5:c.3484G>C p.Glu1162Gln p.E1162Q ENST00000282041 NM_020964.2 1162 Gaa/Caa 0 Missense_Mutation C 32 KIAA1632 SNP 18 C G 41750070 41750070 Baylor C1orf222 hgsc.bcm.edu GRCh37 1 1920336 1920337 + inframe_insertion In_Frame_Ins INS - - CCC novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378590.4:c.114_116dup p.Gly39dup p.G39dup ENST00000378590 39 gga/ggGGGa 0 In_Frame_Ins - 58 KIAA1751 INS 1 - CCC 1910197 1910196 Baylor SRRM4 84530 hgsc.bcm.edu GRCh37 12 119583488 119583489 + frameshift_variant,splice_region_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000267260.4:c.1074_1075insC p.Arg359GlnfsTer67 p.R359Qfs*67 ENST00000267260 NM_194286.3 358 -/C 0 Frame_Shift_Ins - 5 SRRM4 INS 12 - C 118067872 118067871 Baylor KIT 3815 hgsc.bcm.edu GRCh37 4 55524245 55524245 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000288135.5:c.64A>G p.Thr22Ala p.T22A ENST00000288135 NM_000222.2 22 Aca/Gca 0 Missense_Mutation A 10 KIT SNP 4 A G 55219002 55219002 Baylor KRT77 374454 hgsc.bcm.edu GRCh37 12 53096815 53096815 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000341809.3:c.404G>C p.Gly135Ala p.G135A ENST00000341809 NM_175078.2 135 gGc/gCc 0 Missense_Mutation C 26 KRT77 SNP 12 C G 51383082 51383082 Baylor LIMCH1 22998 hgsc.bcm.edu GRCh37 4 41686515 41686515 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000313860.7:c.2795C>G p.Thr932Arg p.T932R ENST00000313860 NM_014988.2 932 aCa/aGa 0 Missense_Mutation C 17 LIMCH1 SNP 4 C G 41381272 41381272 Baylor LIX1L 128077 hgsc.bcm.edu GRCh37 1 145492369 145492369 + synonymous_variant Silent SNP T T A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369308.3:c.591T>A p.Ser197= p.S197= ENST00000369308 NM_153713.2 197 tcT/tcA 0 Silent T 56 LIX1L SNP 1 T A 144203726 144203726 Baylor LOXL3 84695 hgsc.bcm.edu GRCh37 2 74762854 74762854 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264094.3:c.1277A>C p.His426Pro p.H426P ENST00000264094 NM_032603.2 426 cAt/cCt 0 Missense_Mutation T 51 LOXL3 SNP 2 T G 74616362 74616362 Baylor LSS 4047 hgsc.bcm.edu GRCh37 21 47642638 47642638 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397728.3:c.334T>A p.Cys112Ser p.C112S ENST00000397728 NM_002340.5 112 Tgc/Agc 0 Missense_Mutation A 5 LSS SNP 21 A T 46467066 46467066 Baylor MARK4 57787 hgsc.bcm.edu GRCh37 19 45783675 45783675 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262891.4:c.1050G>T p.Glu350Asp p.E350D ENST00000262891 NM_001199867.1 350 gaG/gaT 0 Missense_Mutation G 36 MARK4 SNP 19 G T 50475515 50475515 Baylor MAST3 23031 hgsc.bcm.edu GRCh37 19 18232499 18232500 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262811.6:c.77dup p.Ser27GlnfsTer35 p.S27Qfs*35 ENST00000262811 NM_015016.1 26 cgc/cGgc 0 Frame_Shift_Ins - 23 MAST3 INS 19 - G 18093500 18093499 Baylor ME1 4199 hgsc.bcm.edu GRCh37 6 84140610 84140610 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369705.3:c.64C>A p.Pro22Thr p.P22T ENST00000369705 NM_002395.4 22 Cct/Act 0 Missense_Mutation G 43 ME1 SNP 6 G T 84197329 84197329 Baylor METTL17 64745 hgsc.bcm.edu GRCh37 14 21458722 21458722 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000382985.4:c.329C>A p.Ala110Asp p.A110D ENST00000382985 110 gCt/gAt 0 Missense_Mutation C 28 METT11D1 SNP 14 C A 20528562 20528562 Baylor MGRN1 23295 hgsc.bcm.edu GRCh37 16 4700453 4700454 + frameshift_variant Frame_Shift_Ins INS - - GCCG novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262370.7:c.176_177insGCCG p.Asp59GlufsTer122 p.D59Efs*122 ENST00000262370 NM_015246.3 59 gat/gaGCCGt 0 Frame_Shift_Ins - 12 MGRN1 INS 16 - GCCG 4640455 4640454 Baylor MGRN1 23295 hgsc.bcm.edu GRCh37 16 4700456 4700456 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262370.7:c.179T>A p.Leu60Gln p.L60Q ENST00000262370 NM_015246.3 60 cTg/cAg 0 Missense_Mutation T 55 MGRN1 SNP 16 T A 4640457 4640457 Baylor MIA3 375056 hgsc.bcm.edu GRCh37 1 222803382 222803382 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000344922.5:c.2820G>C p.Gln940His p.Q940H ENST00000344922 NM_198551.2 940 caG/caC 0 Missense_Mutation G 33 MIA3 SNP 1 G C 220870005 220870005 Baylor MOCS3 27304 hgsc.bcm.edu GRCh37 20 49575905 49575905 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000244051.1:c.526G>T p.Val176Leu p.V176L ENST00000244051 NM_014484.4 176 Gtg/Ttg 0 Missense_Mutation G 44 MOCS3 SNP 20 G T 49009312 49009312 Baylor MUC17 140453 hgsc.bcm.edu GRCh37 7 100696301 100696301 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000306151.4:c.13138G>T p.Glu4380Ter p.E4380* ENST00000306151 NM_001040105.1 4380 Gag/Tag 0 Nonsense_Mutation G 41 MUC17 SNP 7 G T 100483021 100483021 Baylor MUSK 4593 hgsc.bcm.edu GRCh37 9 113459743 113459743 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000374448.4:c.625G>C p.Glu209Gln p.E209Q ENST00000374448 NM_005592.3 209 Gag/Cag 0 Missense_Mutation G 45 MUSK SNP 9 G C 112499564 112499564 Baylor MYH15 22989 hgsc.bcm.edu GRCh37 3 108124275 108124275 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000273353.3:c.4706A>T p.Lys1569Met p.K1569M ENST00000273353 NM_014981.1 1569 aAg/aTg 0 Missense_Mutation T 56 MYH15 SNP 3 T A 109606965 109606965 Baylor NARF 26502 hgsc.bcm.edu GRCh37 17 80445993 80445994 + frameshift_variant Frame_Shift_Ins INS - - GA novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000309794.11:c.1331_1332insGA p.Ser444ArgfsTer47 p.S444Rfs*47 ENST00000309794 NM_031968.2 444 agc/agGAc 0 Frame_Shift_Ins - 34 NARF INS 17 - GA 78039283 78039282 Baylor NBPF3 84224 hgsc.bcm.edu GRCh37 1 21808256 21808256 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000318249.5:c.1600G>A p.Val534Met p.V534M ENST00000318249 NM_032264.4 534 Gtg/Atg 0 Missense_Mutation G 40 NBPF3 SNP 1 G A 21680843 21680843 Baylor NEFH 4744 hgsc.bcm.edu GRCh37 22 29884873 29884873 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310624.6:c.1244T>A p.Phe415Tyr p.F415Y ENST00000310624 NM_021076.3 415 tTt/tAt 0 Missense_Mutation T 64 NEFH SNP 22 T A 28214873 28214873 Baylor NEUROD1 4760 hgsc.bcm.edu GRCh37 2 182542923 182542924 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295108.3:c.664dup p.Gln222ProfsTer22 p.Q222Pfs*22 ENST00000295108 NM_002500.4 222 cag/cCag 0 Frame_Shift_Ins - 55 NEUROD1 INS 2 - G 182251169 182251168 Baylor NOL9 79707 hgsc.bcm.edu GRCh37 1 6593492 6593492 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377705.5:c.1085T>A p.Phe362Tyr p.F362Y ENST00000377705 NM_024654.4 362 tTc/tAc 0 Missense_Mutation A 9 NOL9 SNP 1 A T 6516079 6516079 Baylor NOTCH2 4853 hgsc.bcm.edu GRCh37 1 120468421 120468421 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000256646.2:c.4018G>T p.Ala1340Ser p.A1340S ENST00000256646 NM_024408.3 1340 Gca/Tca 0 Missense_Mutation C 26 NOTCH2 SNP 1 C A 120269944 120269944 Baylor NSMCE2 286053 hgsc.bcm.edu GRCh37 8 126369996 126369996 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000287437.3:c.562A>T p.Thr188Ser p.T188S ENST00000287437 NM_173685.2 188 Acc/Tcc 0 Missense_Mutation A 6 NSMCE2 SNP 8 A T 126439178 126439178 Baylor OTOF 9381 hgsc.bcm.edu GRCh37 2 26696340 26696341 + protein_altering_variant In_Frame_Ins INS - - TCA novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000272371.2:c.3503_3504insTGA p.Gln1168delinsHisGlu p.Q1168delinsHE ENST00000272371 NM_194248.2 1168 cag/caTGAg 0 In_Frame_Ins - 20 OTOF INS 2 - TCA 26549845 26549844 Baylor OTOF 9381 hgsc.bcm.edu GRCh37 2 26739340 26739340 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000272371.2:c.455T>G p.Leu152Arg p.L152R ENST00000272371 NM_194248.2 152 cTg/cGg 0 Missense_Mutation A 7 OTOF SNP 2 A C 26592844 26592844 Baylor PCDH12 51294 hgsc.bcm.edu GRCh37 5 141337140 141337140 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000231484.3:c.277G>C p.Asp93His p.D93H ENST00000231484 NM_016580.3 93 Gat/Cat 0 Missense_Mutation C 30 PCDH12 SNP 5 C G 141317324 141317324 Baylor PCDHGB4 8641 hgsc.bcm.edu GRCh37 5 140768013 140768013 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000519479.1:c.563del p.Gly188AlafsTer9 p.G188Afs*9 ENST00000519479 NM_003736.2 188 Ggc/gc 0 Frame_Shift_Del G 47 PCDHGB4 DEL 5 G - 140748197 140748197 Baylor PDCD2L 84306 hgsc.bcm.edu GRCh37 19 34900109 34900109 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000246535.3:c.380C>A p.Ala127Asp p.A127D ENST00000246535 NM_032346.1 127 gCt/gAt 0 Missense_Mutation C 28 PDCD2L SNP 19 C A 39591949 39591949 Baylor PDE12 201626 hgsc.bcm.edu GRCh37 3 57542507 57542507 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311180.8:c.401A>T p.Glu134Val p.E134V ENST00000311180 NM_177966.5 134 gAg/gTg 0 Missense_Mutation A 11 PDE12 SNP 3 A T 57517547 57517547 Baylor PDE12 201626 hgsc.bcm.edu GRCh37 3 57542510 57542510 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311180.8:c.404A>T p.Asp135Val p.D135V ENST00000311180 NM_177966.5 135 gAc/gTc 0 Missense_Mutation A 10 PDE12 SNP 3 A T 57517550 57517550 Baylor PDE12 201626 hgsc.bcm.edu GRCh37 3 57542916 57542916 + synonymous_variant Silent SNP A A C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311180.8:c.810A>C p.Val270= p.V270= ENST00000311180 NM_177966.5 270 gtA/gtC 0 Silent A 15 PDE12 SNP 3 A C 57517956 57517956 Baylor PDE12 201626 hgsc.bcm.edu GRCh37 3 57542918 57542918 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311180.8:c.812A>T p.Glu271Val p.E271V ENST00000311180 NM_177966.5 271 gAg/gTg 0 Missense_Mutation A 11 PDE12 SNP 3 A T 57517958 57517958 Baylor PGBD2 267002 hgsc.bcm.edu GRCh37 1 249211778 249211778 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000329291.5:c.995T>C p.Ile332Thr p.I332T ENST00000329291 NM_170725.2 332 aTa/aCa 0 Missense_Mutation T 49 PGBD2 SNP 1 T C 247178401 247178401 Baylor PIK3R2 5296 hgsc.bcm.edu GRCh37 19 18272834 18272835 + frameshift_variant Frame_Shift_Del DEL TT TT - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 TT TT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000222254.8:c.874_875del p.Leu292GlyfsTer13 p.L292Gfs*13 ENST00000222254 NM_005027.3 292 TTg/g 0 Frame_Shift_Del TT 56 PIK3R2 DEL 19 TT - 18133835 18133834 Baylor PKD1L1 168507 hgsc.bcm.edu GRCh37 7 47904851 47904851 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000289672.2:c.4112T>C p.Val1371Ala p.V1371A ENST00000289672 NM_138295.3 1371 gTt/gCt 0 Missense_Mutation A 2 PKD1L1 SNP 7 A G 47871376 47871376 Baylor PLCB3 5331 hgsc.bcm.edu GRCh37 11 64033809 64033809 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000540288.1:c.3289A>T p.Ile1097Phe p.I1097F ENST00000540288 NM_000932.2 1097 Atc/Ttc 0 Missense_Mutation A 12 PLCB3 SNP 11 A T 63790385 63790385 Baylor PRSS16 10279 hgsc.bcm.edu GRCh37 6 27223065 27223079 + inframe_deletion In_Frame_Del DEL AAGGAGAGCCAGATT AAGGAGAGCCAGATT - rs5030663 Unknown TCGA-23-1120-01 TCGA-23-1120-10 AAGGAGAGCCAGATT AAGGAGAGCCAGATT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000230582.3:c.1520_1534delAGAGCCAGATTAAGG p.Glu507_Lys511del p.E507_K511del ENST00000230582 NM_005865.3 506 AAGGAGAGCCAGATT/- 0 In_Frame_Del AAGGAGAGCCAGATT 1 PRSS16 DEL 6 AAGGAGAGCCAGATT - 27331058 27331044 Baylor PSMB6 5694 hgsc.bcm.edu GRCh37 17 4701625 4701625 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000270586.3:c.628C>T p.Leu210= p.L210= ENST00000270586 NM_002798.2 210 Ctg/Ttg 0 Silent C 24 PSMB6 SNP 17 C T 4648583 4648583 Baylor PSME1 5720 hgsc.bcm.edu GRCh37 14 24606394 24606394 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000382708.3:c.115del p.Glu39SerfsTer6 p.E39Sfs*6 ENST00000382708 NM_176783.2 39 Gag/ag 0 Frame_Shift_Del G 45 PSME1 DEL 14 G - 23676234 23676234 Baylor PTPN12 5782 hgsc.bcm.edu GRCh37 7 77268030 77268030 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000248594.6:c.2263A>G p.Thr755Ala p.T755A ENST00000248594 NM_002835.3 755 Aca/Gca 0 Missense_Mutation A 2 PTPN12 SNP 7 A G 77105966 77105966 Baylor RASA3 22821 hgsc.bcm.edu GRCh37 13 114765132 114765133 + inframe_insertion In_Frame_Ins INS - - CTC novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000334062.7:c.1860_1861insGAG p.Pro620_Leu621insGlu p.P620_L621insE ENST00000334062 NM_007368.2 620 -/GAG 0 In_Frame_Ins - 33 RASA3 INS 13 - CTC 113783235 113783234 Baylor RPS6KA2 6196 hgsc.bcm.edu GRCh37 6 166827304 166827304 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000503859.1:c.2078G>T p.Arg693Leu p.R693L ENST00000503859 NM_001006932.1 693 cGa/cTa 0 Missense_Mutation C 31 RPS6KA2 SNP 6 C A 166747294 166747294 Baylor SCN11A 11280 hgsc.bcm.edu GRCh37 3 38889039 38889039 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302328.3:c.4522A>T p.Met1508Leu p.M1508L ENST00000302328 NM_014139.2 1508 Atg/Ttg 0 Missense_Mutation T 49 SCN11A SNP 3 T A 38864043 38864043 Baylor SCRN1 9805 hgsc.bcm.edu GRCh37 7 29983757 29983757 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000434476.2:c.440T>C p.Leu147Ser p.L147S ENST00000434476 NM_001145514.1 147 tTa/tCa 0 Missense_Mutation A 13 SCRN1 SNP 7 A G 29950282 29950282 Baylor SCYL1 57410 hgsc.bcm.edu GRCh37 11 65305475 65305475 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000270176.5:c.2069A>G p.Glu690Gly p.E690G ENST00000270176 NM_020680.3 690 gAg/gGg 0 Missense_Mutation A 11 SCYL1 SNP 11 A G 65062051 65062051 Baylor SEC23IP 11196 hgsc.bcm.edu GRCh37 10 121658154 121658154 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369075.3:c.379C>G p.Gln127Glu p.Q127E ENST00000369075 NM_007190.3 127 Caa/Gaa 0 Missense_Mutation C 21 SEC23IP SNP 10 C G 121648144 121648144 Baylor SH3TC2 79628 hgsc.bcm.edu GRCh37 5 148384447 148384447 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000515425.1:c.3694G>A p.Glu1232Lys p.E1232K ENST00000515425 NM_024577.3 1232 Gag/Aag 0 Missense_Mutation C 29 SH3TC2 SNP 5 C T 148364640 148364640 Baylor SKIV2L 6499 hgsc.bcm.edu GRCh37 6 31930761 31930761 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375394.2:c.1297-1G>A p.X433_splice ENST00000375394 NM_006929.4 0 Splice_Site_SNP G 34 SKIV2L SNP 6 G A 32038740 32038740 Baylor SLC4A1 6521 hgsc.bcm.edu GRCh37 17 42330613 42330613 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262418.6:c.2184C>T p.Thr728= p.T728= ENST00000262418 NM_000342.3 728 acC/acT 0 Silent G 39 SLC4A1 SNP 17 G A 39686139 39686139 Baylor SLCO4A1 28231 hgsc.bcm.edu GRCh37 20 61299403 61299403 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000217159.1:c.1678T>A p.Ser560Thr p.S560T ENST00000217159 NM_016354.3 560 Tct/Act 0 Missense_Mutation T 54 SLCO4A1 SNP 20 T A 60769848 60769848 Baylor SMYD4 114826 hgsc.bcm.edu GRCh37 17 1684605 1684605 + missense_variant Missense_Mutation SNP G G T rs58337165 Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000305513.7:c.2390C>A p.Pro797His p.P797H ENST00000305513 NM_052928.2 797 cCc/cAc 0 Missense_Mutation G 43 SMYD4 SNP 17 G T 1631355 1631355 Baylor SNED1 25992 hgsc.bcm.edu GRCh37 2 242004803 242004806 + frameshift_variant Frame_Shift_Del DEL CAGG CAGG - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 CAGG CAGG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310397.8:c.2805_2808del p.Gln936CysfsTer47 p.Q936Cfs*47 ENST00000310397 NM_001080437.1 934 gcCAGG/gc 0 Frame_Shift_Del CAGG 21 SNED1 DEL 2 CAGG - 241653479 241653476 Baylor SOX13 9580 hgsc.bcm.edu GRCh37 1 204093883 204093883 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367204.1:c.1490C>G p.Pro497Arg p.P497R ENST00000367204 NM_005686.2 497 cCc/cGc 0 Missense_Mutation C 22 SOX13 SNP 1 C G 202360506 202360506 Baylor STXBP5L 9515 hgsc.bcm.edu GRCh37 3 120628437 120628437 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000273666.6:c.12T>C p.Phe4= p.F4= ENST00000273666 NM_014980.2 4 ttT/ttC 0 Silent T 61 STXBP5L SNP 3 T C 122111127 122111127 Baylor SVEP1 79987 hgsc.bcm.edu GRCh37 9 113212416 113212416 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000401783.2:c.4026T>G p.Cys1342Trp p.C1342W ENST00000401783 NM_153366.3 1342 tgT/tgG 0 Missense_Mutation A 6 SVEP1 SNP 9 A C 112252237 112252237 Baylor SYNE1 23345 hgsc.bcm.edu GRCh37 6 152469323 152469324 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367255.5:c.24832_24833insA p.Val8278AspfsTer13 p.V8278Dfs*13 ENST00000367255 NM_182961.3 8278 gtg/gAtg 0 Frame_Shift_Ins - 6 SYNE1 INS 6 - T 152511017 152511016 Baylor SYTL3 94120 hgsc.bcm.edu GRCh37 6 159084315 159084315 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000297239.9:c.15A>G p.Ile5Met p.I5M ENST00000297239 5 atA/atG 0 Missense_Mutation A 15 SYTL3 SNP 6 A G 159004303 159004303 Baylor TANC1 85461 hgsc.bcm.edu GRCh37 2 160086620 160086620 + synonymous_variant Silent SNP T T G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263635.6:c.4683T>G p.Pro1561= p.P1561= ENST00000263635 NM_033394.2 1561 ccT/ccG 0 Silent T 54 TANC1 SNP 2 T G 159794866 159794866 Baylor TBC1D21 161514 hgsc.bcm.edu GRCh37 15 74177227 74177227 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000300504.2:c.473A>T p.Gln158Leu p.Q158L ENST00000300504 NM_153356.1 158 cAg/cTg 0 Missense_Mutation A 7 TBC1D21 SNP 15 A T 71964280 71964280 Baylor TBX20 57057 hgsc.bcm.edu GRCh37 7 35242182 35242182 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000408931.3:c.1204A>G p.Ile402Val p.I402V ENST00000408931 NM_001077653.2 402 Att/Gtt 0 Missense_Mutation T 51 TBX20 SNP 7 T C 35208707 35208707 Baylor C7orf72 100130988 hgsc.bcm.edu GRCh37 7 50180906 50180906 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000297001.6:c.1007A>G p.Asp336Gly p.D336G ENST00000297001 NM_001161834.2 336 gAt/gGt 0 Missense_Mutation A 12 tcag7.1071 SNP 7 A G 50151452 50151452 Baylor THADA 63892 hgsc.bcm.edu GRCh37 2 43514123 43514123 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000405006.4:c.5088A>G p.Thr1696= p.T1696= ENST00000405006 NM_001083953.1 1696 acA/acG 0 Silent T 55 THADA SNP 2 T C 43367627 43367627 Baylor TNPO2 30000 hgsc.bcm.edu GRCh37 19 12825707 12825708 + frameshift_variant Frame_Shift_Ins INS - - CGTTG novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000425528.1:c.817_818insCAACG p.Glu273AlafsTer9 p.E273Afs*9 ENST00000425528 273 gag/gCAACGag 0 Frame_Shift_Ins - 54 TNPO2 INS 19 - CGTTG 12686708 12686707 Baylor TNS4 84951 hgsc.bcm.edu GRCh37 17 38638615 38638616 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000254051.6:c.1554dup p.Gly519ArgfsTer9 p.G519Rfs*9 ENST00000254051 NM_032865.5 518 -/A 0 Frame_Shift_Ins - 24 TNS4 INS 17 - T 35892142 35892141 Baylor TRIP10 9322 hgsc.bcm.edu GRCh37 19 6750598 6750598 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000313285.8:c.1443A>G p.Glu481= p.E481= ENST00000313285 NM_004240.2 481 gaA/gaG 0 Silent A 2 TRIP10 SNP 19 A G 6701598 6701598 Baylor TRPV2 51393 hgsc.bcm.edu GRCh37 17 16330175 16330175 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000338560.7:c.1235A>T p.Gln412Leu p.Q412L ENST00000338560 NM_016113.4 412 cAg/cTg 0 Missense_Mutation A 7 TRPV2 SNP 17 A T 16270900 16270900 Baylor TXNDC15 79770 hgsc.bcm.edu GRCh37 5 134210206 134210206 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358387.4:c.89del p.Val30AlafsTer63 p.V30Afs*63 ENST00000358387 NM_024715.3 30 gTc/gc 0 Frame_Shift_Del T 58 TXNDC15 DEL 5 T - 134238105 134238105 Baylor SUN1 23353 hgsc.bcm.edu GRCh37 7 894583 894583 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000401592.1:c.1290A>T p.Glu430Asp p.E430D ENST00000401592 NM_001130965.2 430 gaA/gaT 0 Missense_Mutation A 2 SUN1 SNP 7 A T 861109 861109 Baylor USP24 23358 hgsc.bcm.edu GRCh37 1 55600023 55600023 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000294383.6:c.3265C>G p.Leu1089Val p.L1089V ENST00000294383 NM_015306.2 1089 Ctc/Gtc 0 Missense_Mutation G 34 USP24 SNP 1 G C 55372611 55372611 Baylor VAV3 10451 hgsc.bcm.edu GRCh37 1 108298100 108298100 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370056.4:c.1122T>C p.Asp374= p.D374= ENST00000370056 NM_006113.4 374 gaT/gaC 0 Silent A 16 VAV3 SNP 1 A G 108099623 108099623 Baylor VWF 7450 hgsc.bcm.edu GRCh37 12 6103046 6103047 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261405.5:c.6579dup p.Arg2194GlufsTer4 p.R2194Efs*4 ENST00000261405 NM_000552.3 2193 -/G 0 Frame_Shift_Ins - 54 VWF INS 12 - C 5973308 5973307 Baylor ZDHHC12 84885 hgsc.bcm.edu GRCh37 9 131483625 131483626 + frameshift_variant Frame_Shift_Del DEL TT TT - novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 TT TT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372663.4:c.638_639del p.Glu213ValfsTer44 p.E213Vfs*44 ENST00000372663 NM_032799.4 213 gAA/g 0 Frame_Shift_Del TT 52 ZDHHC12 DEL 9 TT - 130523447 130523446 Baylor ZNF148 7707 hgsc.bcm.edu GRCh37 3 124952176 124952176 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360647.4:c.1394A>T p.Asp465Val p.D465V ENST00000360647 NM_021964.2 465 gAt/gTt 0 Missense_Mutation T 50 ZNF148 SNP 3 T A 126434866 126434866 Baylor ZNF197 10168 hgsc.bcm.edu GRCh37 3 44672579 44672579 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000396058.1:c.416A>T p.Asp139Val p.D139V ENST00000396058 139 gAc/gTc 0 Missense_Mutation A 10 ZNF197 SNP 3 A T 44647583 44647583 Baylor ZNF395 55893 hgsc.bcm.edu GRCh37 8 28206644 28206644 + splice_region_variant,synonymous_variant Splice_Region SNP G G T novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000344423.5:c.1428C>A p.Ala476= p.A476= ENST00000344423 NM_018660.2 476 gcC/gcA 0 Silent G 47 ZNF395 SNP 8 G T 28262563 28262563 Baylor ZNF536 9745 hgsc.bcm.edu GRCh37 19 31039137 31039137 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1120-01 TCGA-23-1120-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355537.3:c.2611G>C p.Gly871Arg p.G871R ENST00000355537 NM_014717.1 871 Ggg/Cgg 0 Missense_Mutation G 43 ZNF536 SNP 19 G C 35730977 35730977 Baylor ACSL4 2182 hgsc.bcm.edu GRCh37 X 108924290 108924290 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000340800.2:c.715C>A p.Pro239Thr p.P239T ENST00000340800 NM_022977.2 239 Cct/Act 0 Missense_Mutation G 43 ACSL4 SNP 23 G T 108810946 108810946 Baylor ADCY2 108 hgsc.bcm.edu GRCh37 5 7712980 7712980 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000338316.4:c.1590G>T p.Met530Ile p.M530I ENST00000338316 NM_020546.2 530 atG/atT 0 Missense_Mutation G 47 ADCY2 SNP 5 G T 7765980 7765980 Baylor APEX1 328 hgsc.bcm.edu GRCh37 14 20925434 20925434 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000216714.3:c.724G>T p.Glu242Ter p.E242* ENST00000216714 NM_001244249.1 242 Gaa/Taa 0 Nonsense_Mutation G 41 APEX1 SNP 14 G T 19995274 19995274 Baylor APLF 200558 hgsc.bcm.edu GRCh37 2 68740805 68740805 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000303795.4:c.615C>T p.Ile205= p.I205= ENST00000303795 NM_173545.2 205 atC/atT 0 Silent C 29 APLF SNP 2 C T 68594309 68594309 Baylor ATG3 64422 hgsc.bcm.edu GRCh37 3 112269052 112269052 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000283290.5:c.222G>C p.Leu74Phe p.L74F ENST00000283290 NM_022488.4 74 ttG/ttC 0 Missense_Mutation C 21 ATG3 SNP 3 C G 113751742 113751742 Baylor BEND3 57673 hgsc.bcm.edu GRCh37 6 107390067 107390067 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000429433.2:c.2328G>A p.Arg776= p.R776= ENST00000429433 NM_001080450.2 776 cgG/cgA 0 Silent C 26 BEND3 SNP 6 C T 107496760 107496760 Baylor BRCA1 672 hgsc.bcm.edu GRCh37 17 41245991 41245991 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357654.3:c.1557del p.Ala521GlnfsTer11 p.A521Qfs*11 ENST00000357654 NM_007294.3 519 aaG/aa 0 Frame_Shift_Del C 32 BRCA1 DEL 17 C - 38499517 38499517 Baylor C11orf63 79864 hgsc.bcm.edu GRCh37 11 122756572 122756572 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000227349.2:c.15A>T p.Lys5Asn p.K5N ENST00000227349 NM_024806.3 5 aaA/aaT 0 Missense_Mutation A 2 C11orf63 SNP 11 A T 122261782 122261782 Baylor CAT 847 hgsc.bcm.edu GRCh37 11 34482828 34482828 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000241052.4:c.1087C>T p.Arg363Cys p.R363C ENST00000241052 NM_001752.3 363 Cgc/Tgc 0 Missense_Mutation C 23 CAT SNP 11 C T 34439404 34439404 Baylor CCNH 902 hgsc.bcm.edu GRCh37 5 86700747 86700747 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000256897.4:c.603G>A p.Thr201= p.T201= ENST00000256897 NM_001239.3 201 acG/acA 0 Silent C 23 CCNH SNP 5 C T 86736503 86736503 Baylor CHD1L 9557 hgsc.bcm.edu GRCh37 1 146756124 146756124 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000369258.4:c.1806T>C p.Leu602= p.L602= ENST00000369258 NM_001256336.1 602 ctT/ctC 0 Silent T 64 CHD1L SNP 1 T C 145222748 145222748 Baylor CORO2A 7464 hgsc.bcm.edu GRCh37 9 100888858 100888858 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000343933.5:c.1419A>T p.Glu473Asp p.E473D ENST00000343933 NM_003389.3 473 gaA/gaT 0 Missense_Mutation T 52 CORO2A SNP 9 T A 99928679 99928679 Baylor EPS8L3 79574 hgsc.bcm.edu GRCh37 1 110301725 110301725 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000369805.3:c.420G>T p.Lys140Asn p.K140N ENST00000369805 NM_139053.2 140 aaG/aaT 0 Missense_Mutation C 32 EPS8L3 SNP 1 C A 110103248 110103248 Baylor FCGBP 8857 hgsc.bcm.edu GRCh37 19 40408821 40408821 + missense_variant Missense_Mutation SNP C C G rs45613437 Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000221347.6:c.4018G>C p.Val1340Leu p.V1340L ENST00000221347 NM_003890.2 1340 Gtg/Ctg 0 Missense_Mutation C 19 FCGBP SNP 19 G G 45100661 45100661 Baylor FCRL3 115352 hgsc.bcm.edu GRCh37 1 157665981 157665981 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368184.3:c.981A>T p.Arg327Ser p.R327S ENST00000368184 NM_052939.3 327 agA/agT 0 Missense_Mutation T 54 FCRL3 SNP 1 T A 155932605 155932605 Baylor FOSB 2354 hgsc.bcm.edu GRCh37 19 45973937 45973937 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000353609.3:c.177C>G p.Thr59= p.T59= ENST00000353609 NM_006732.2 59 acC/acG 0 Silent C 23 FOSB SNP 19 C G 50665777 50665777 Baylor GCKR 2646 hgsc.bcm.edu GRCh37 2 27730117 27730117 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264717.2:c.1082G>A p.Arg361His p.R361H ENST00000264717 NM_001486.3 361 cGt/cAt 0 Missense_Mutation G 40 GCKR SNP 2 G A 27583621 27583621 Baylor GPRIN3 285513 hgsc.bcm.edu GRCh37 4 90169233 90169233 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000609438.1:c.2029C>G p.Gln677Glu p.Q677E ENST00000609438 NM_198281.2 677 Cag/Gag 0 Missense_Mutation G 48 GPRIN3 SNP 4 G C 90388256 90388256 Baylor HEATR1 55127 hgsc.bcm.edu GRCh37 1 236757341 236757341 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000366582.3:c.1164G>T p.Leu388= p.L388= ENST00000366582 NM_018072.5 388 ctG/ctT 0 Silent C 29 HEATR1 SNP 1 C A 234823964 234823964 Baylor HMCN1 83872 hgsc.bcm.edu GRCh37 1 185878523 185878523 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000271588.4:c.676A>G p.Thr226Ala p.T226A ENST00000271588 NM_031935.2 226 Aca/Gca 0 Missense_Mutation A 6 HMCN1 SNP 1 A G 184145146 184145146 Baylor HS6ST3 266722 hgsc.bcm.edu GRCh37 13 97484994 97484994 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000376705.2:c.958G>A p.Val320Met p.V320M ENST00000376705 NM_153456.3 320 Gtg/Atg 0 Missense_Mutation G 44 HS6ST3 SNP 13 G A 96282995 96282995 Baylor HUWE1 10075 hgsc.bcm.edu GRCh37 X 53655545 53655545 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000342160.3:c.1141C>A p.Gln381Lys p.Q381K ENST00000342160 381 Cag/Aag 0 Missense_Mutation G 47 HUWE1 SNP 23 G T 53672270 53672270 Baylor DCAF6 55827 hgsc.bcm.edu GRCh37 1 168032995 168032995 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367840.3:c.2437A>G p.Met813Val p.M813V ENST00000367840 NM_001198956.1 813 Atg/Gtg 0 Missense_Mutation A 4 DCAF6 SNP 1 A G 166299619 166299619 Baylor KDELC1 79070 hgsc.bcm.edu GRCh37 13 103441515 103441515 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000376004.4:c.1140G>A p.Leu380= p.L380= ENST00000376004 NM_024089.2 380 ttG/ttA 0 Silent C 25 KDELC1 SNP 13 C T 102239516 102239516 Baylor KIF7 374654 hgsc.bcm.edu GRCh37 15 90188643 90188643 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000394412.3:c.1962C>T p.Arg654= p.R654= ENST00000394412 NM_198525.2 654 cgC/cgT 0 Silent G 42 KIF7 SNP 15 G A 87989647 87989647 Baylor MEOX2 4223 hgsc.bcm.edu GRCh37 7 15652115 15652115 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262041.5:c.812A>C p.Glu271Ala p.E271A ENST00000262041 NM_005924.4 271 gAg/gCg 0 Missense_Mutation T 54 MEOX2 SNP 7 T G 15618640 15618640 Baylor NALCN 259232 hgsc.bcm.edu GRCh37 13 102029076 102029076 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000251127.6:c.619T>C p.Cys207Arg p.C207R ENST00000251127 NM_052867.2 207 Tgt/Cgt 0 Missense_Mutation A 7 NALCN SNP 13 A G 100827077 100827077 Baylor PAMR1 25891 hgsc.bcm.edu GRCh37 11 35457458 35457458 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000278360.3:c.1377C>A p.Cys459Ter p.C459* ENST00000278360 NM_015430.2 459 tgC/tgA 0 Nonsense_Mutation G 46 PAMR1 SNP 11 G T 35414034 35414034 Baylor PDZD7 79955 hgsc.bcm.edu GRCh37 10 102780434 102780434 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000370215.3:c.869A>G p.Glu290Gly p.E290G ENST00000370215 NM_024895.4 290 gAg/gGg 0 Missense_Mutation T 54 PDZD7 SNP 10 T C 102770424 102770424 Baylor PGAP3 93210 hgsc.bcm.edu GRCh37 17 37844105 37844105 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000300658.4:c.163A>G p.Ile55Val p.I55V ENST00000300658 NM_033419.3 55 Atc/Gtc 0 Missense_Mutation T 52 PGAP3 SNP 17 T C 35097631 35097631 Baylor PGR 5241 hgsc.bcm.edu GRCh37 11 100922261 100922261 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000325455.5:c.2251A>T p.Ile751Phe p.I751F ENST00000325455 NM_001202474.3 751 Att/Ttt 0 Missense_Mutation T 51 PGR SNP 11 T A 100427471 100427471 Baylor PIGT 51604 hgsc.bcm.edu GRCh37 20 44054403 44054403 + synonymous_variant Silent SNP A A C novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000279036.6:c.1674A>C p.Thr558= p.T558= ENST00000279036 NM_015937.5 558 acA/acC 0 Silent A 7 PIGT SNP 20 A C 43487817 43487817 Baylor PRSS27 83886 hgsc.bcm.edu GRCh37 16 2763551 2763551 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000302641.3:c.657G>C p.Glu219Asp p.E219D ENST00000302641 NM_031948.3 219 gaG/gaC 0 Missense_Mutation C 24 PRSS27 SNP 16 C G 2703552 2703552 Baylor SLAMF7 57823 hgsc.bcm.edu GRCh37 1 160718118 160718118 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368043.3:c.190C>A p.Gln64Lys p.Q64K ENST00000368043 NM_021181.3 64 Cag/Aag 0 Missense_Mutation C 17 SLAMF7 SNP 1 C A 158984742 158984742 Baylor SPATA18 132671 hgsc.bcm.edu GRCh37 4 52936032 52936032 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295213.4:c.468G>C p.Ser156= p.S156= ENST00000295213 NM_145263.2 156 tcG/tcC 0 Silent G 39 SPATA18 SNP 4 G C 52630789 52630789 Baylor SPRED1 161742 hgsc.bcm.edu GRCh37 15 38643351 38643351 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000299084.4:c.821A>C p.Asp274Ala p.D274A ENST00000299084 NM_152594.2 274 gAt/gCt 0 Missense_Mutation A 12 SPRED1 SNP 15 A C 36430643 36430643 Baylor STX5 6811 hgsc.bcm.edu GRCh37 11 62598584 62598585 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000294179.3:c.131dupC p.Val45SerfsTer38 p.V45Sfs*38 ENST00000294179 NM_001244666.1 44 cca/ccCa 0 Frame_Shift_Ins - 55 STX5 INS 11 - G 62355161 62355160 Baylor TEX15 56154 hgsc.bcm.edu GRCh37 8 30703199 30703199 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000256246.2:c.3335G>C p.Ser1112Thr p.S1112T ENST00000256246 NM_031271.3 1112 aGt/aCt 0 Missense_Mutation C 20 TEX15 SNP 8 C G 30822741 30822741 Baylor TINAG 27283 hgsc.bcm.edu GRCh37 6 54191632 54191632 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000259782.4:c.542G>A p.Gly181Glu p.G181E ENST00000259782 NM_014464.3 181 gGa/gAa 0 Missense_Mutation G 41 TINAG SNP 6 G A 54299591 54299591 Baylor TOR1AIP1 26092 hgsc.bcm.edu GRCh37 1 179886684 179886684 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000606911.2:c.1062C>A p.Phe354Leu p.F354L ENST00000606911 354 ttC/ttA 0 Missense_Mutation C 32 TOR1AIP1 SNP 1 C A 178153307 178153307 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578413 7578413 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.517G>T p.Val173Leu p.V173L ENST00000269305 NM_001126112.2 173 Gtg/Ttg 0 Missense_Mutation C 17 TP53 SNP 17 C A 7519138 7519138 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578467 7578467 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.463A>G p.Thr155Ala p.T155A ENST00000269305 NM_001126112.2 155 Acc/Gcc 0 Missense_Mutation T 59 TP53 SNP 17 T C 7519192 7519192 Baylor TRIM40 135644 hgsc.bcm.edu GRCh37 6 30115574 30115574 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000307859.4:c.675C>G p.Pro225= p.P225= ENST00000307859 225 ccC/ccG 0 Silent C 22 TRIM40 SNP 6 C G 30223553 30223553 Baylor TRIO 7204 hgsc.bcm.edu GRCh37 5 14482753 14482753 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000344204.4:c.6528T>A p.Asp2176Glu p.D2176E ENST00000344204 NM_007118.2 2176 gaT/gaA 0 Missense_Mutation T 51 TRIO SNP 5 T A 14535753 14535753 Baylor WDR13 64743 hgsc.bcm.edu GRCh37 X 48457322 48457322 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000218056.5:c.259C>T p.Arg87Cys p.R87C ENST00000218056 NM_001166426.1 87 Cgc/Tgc 0 Missense_Mutation C 23 WDR13 SNP 23 C T 48342266 48342266 Baylor YY1AP1 55249 hgsc.bcm.edu GRCh37 1 155629630 155629630 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368339.5:c.2485G>C p.Gly829Arg p.G829R ENST00000368339 NM_001198903.1 829 Gga/Cga 0 Missense_Mutation C 24 YY1AP1 SNP 1 C G 153896254 153896254 Baylor ZNF277 11179 hgsc.bcm.edu GRCh37 7 111958284 111958284 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1630-01 TCGA-25-1630-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361822.3:c.513T>G p.Phe171Leu p.F171L ENST00000361822 NM_021994.2 171 ttT/ttG 0 Missense_Mutation T 62 ZNF277 SNP 7 T G 111745520 111745520 Baylor CHD5 26038 broad.mit.edu GRCh37 1 6189018 6189018 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000262450.3:c.3499A>G p.Met1167Val p.M1167V ENST00000262450 NM_015557.2 1167 Atg/Gtg 0 Missense_Mutation T 50 CHD5 SNP 1 T C 6111605 6111605 Broad LCK 3932 broad.mit.edu GRCh37 1 32745786 32745786 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000336890.5:c.1302C>T p.Val434= p.V434= ENST00000336890 NM_005356.3 434 gtC/gtT 0 Silent C 29 LCK SNP 1 C T 32518373 32518373 Broad PHC2 1912 broad.mit.edu GRCh37 1 33794643 33794643 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000257118.5:c.2250G>C p.Leu750Phe p.L750F ENST00000257118 NM_198040.2 750 ttG/ttC 0 Missense_Mutation C 17 PHC2 SNP 1 C G 33567230 33567230 Broad MAP7D1 55700 broad.mit.edu GRCh37 1 36645540 36645540 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000373151.2:c.2387A>G p.Glu796Gly p.E796G ENST00000373151 NM_018067.3 796 gAg/gGg 0 Missense_Mutation A 11 MAP7D1 SNP 1 A G 36418127 36418127 Broad KLF17 128209 broad.mit.edu GRCh37 1 44595669 44595669 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000372299.3:c.726G>T p.Gln242His p.Q242H ENST00000372299 NM_173484.3 242 caG/caT 0 Missense_Mutation G 34 KLF17 SNP 1 G T 44368256 44368256 Broad ERI3 79033 broad.mit.edu GRCh37 1 44778840 44778840 + splice_donor_variant Splice_Site SNP C C G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000372257.2:c.666+1G>C p.X222_splice ENST00000372257 NM_024066.1 0 Splice_Site_SNP C 18 ERI3 SNP 1 C G 44551427 44551427 Broad ROR1 4919 broad.mit.edu GRCh37 1 64644314 64644314 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000371079.1:c.2590A>G p.Ser864Gly p.S864G ENST00000371079 NM_005012.3 864 Agc/Ggc 0 Missense_Mutation A 15 ROR1 SNP 1 A G 64416902 64416902 Broad ASB17 127247 broad.mit.edu GRCh37 1 76397959 76397959 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000284142.6:c.18A>T p.Lys6Asn p.K6N ENST00000284142 NM_080868.2 6 aaA/aaT 0 Missense_Mutation T 52 ASB17 SNP 1 T A 76170547 76170547 Broad LAMTOR5 10542 broad.mit.edu GRCh37 1 110944162 110944162 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000256644.4:c.505C>A p.His169Asn p.H169N ENST00000256644 NM_006402.2 169 Cac/Aac 0 Missense_Mutation G 46 HBXIP SNP 1 G T 110745685 110745685 Broad TDRD10 126668 broad.mit.edu GRCh37 1 154516505 154516505 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000368480.3:c.570T>G p.His190Gln p.H190Q ENST00000368480 190 caT/caG 0 Missense_Mutation T 49 TDRD10 SNP 1 T G 152783129 152783129 Broad PKLR 5313 broad.mit.edu GRCh37 1 155264372 155264372 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000342741.4:c.866G>T p.Arg289Leu p.R289L ENST00000342741 NM_000298.5 289 cGg/cTg 0 Missense_Mutation C 23 PKLR SNP 1 C A 153530996 153530996 Broad INSRR 3645 broad.mit.edu GRCh37 1 156815493 156815493 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000368195.3:c.2092G>A p.Val698Ile p.V698I ENST00000368195 NM_014215.2 698 Gtt/Att 0 Missense_Mutation C 18 INSRR SNP 1 C T 155082117 155082117 Broad OR10X1 128367 broad.mit.edu GRCh37 1 158549536 158549537 + stop_gained Nonsense_Mutation DNP GG GG TT novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000368150.1:c.153_154delinsAA p.Tyr51_Leu52delinsTer p.Y51_L52delins* ENST00000368150 NM_001004477.1 51 taCCtt/taAAtt 0 Nonsense_Mutation GG 35 OR10X1 DNP 1 GG TT 156816161 156816160 Broad HMCN1 83872 broad.mit.edu GRCh37 1 185897763 185897763 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000271588.4:c.1516G>T p.Gly506Cys p.G506C ENST00000271588 NM_031935.2 506 Ggt/Tgt 0 Missense_Mutation G 35 HMCN1 SNP 1 G T 184164386 184164386 Broad MDM4 4194 broad.mit.edu GRCh37 1 204515957 204515957 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000367182.3:c.855G>A p.Glu285= p.E285= ENST00000367182 NM_001278516.1 285 gaG/gaA 0 Silent G 35 MDM4 SNP 1 G A 202782580 202782580 Broad PLXNA2 5362 broad.mit.edu GRCh37 1 208269462 208269462 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000367033.3:c.1894G>C p.Gly632Arg p.G632R ENST00000367033 NM_025179.3 632 Ggg/Cgg 0 Missense_Mutation C 21 PLXNA2 SNP 1 C G 206336085 206336085 Broad EPHX1 2052 broad.mit.edu GRCh37 1 226027540 226027540 + missense_variant Missense_Mutation SNP G G C rs66903687 Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000366837.4:c.733G>C p.Gly245Arg p.G245R ENST00000366837 NM_000120.3 245 Ggc/Cgc 0 Missense_Mutation G 35 EPHX1 SNP 1 G C 224094163 224094163 Broad OR2M3 127062 broad.mit.edu GRCh37 1 248366767 248366767 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000456743.1:c.398C>A p.Thr133Asn p.T133N ENST00000456743 NM_001004689.1 133 aCc/aAc 0 Missense_Mutation C 18 OR2M3 SNP 1 C A 246433390 246433390 Broad HNRNPH3 3189 broad.mit.edu GRCh37 10 70101810 70101810 + stop_lost Nonstop_Mutation SNP G G C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000265866.7:c.1040G>C p.Ter347SerextTer32 p.*347Sext*32 ENST00000265866 NM_012207.2 347 tGa/tCa 0 Nonstop_Mutation G 45 HNRNPH3 SNP 10 G C 69771816 69771816 Broad VDAC2 7417 broad.mit.edu GRCh37 10 76973800 76973800 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000313132.4:c.167A>G p.Asp56Gly p.D56G ENST00000313132 NM_001184783.1 56 gAt/gGt 0 Missense_Mutation A 12 VDAC2 SNP 10 A G 76643806 76643806 Broad ATRNL1 26033 broad.mit.edu GRCh37 10 117040934 117040934 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000355044.3:c.2170A>T p.Ser724Cys p.S724C ENST00000355044 NM_207303.2 724 Agc/Tgc 0 Missense_Mutation A 3 ATRNL1 SNP 10 A T 117030924 117030924 Broad SPI1 6688 broad.mit.edu GRCh37 11 47376832 47376832 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000227163.4:c.762C>T p.Ser254= p.S254= ENST00000227163 254 agC/agT 0 Silent G 38 SPI1 SNP 11 G A 47333408 47333408 Broad OR1S2 219958 broad.mit.edu GRCh37 11 57971087 57971087 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000302592.6:c.567C>T p.His189= p.H189= ENST00000302592 NM_001004459.1 189 caC/caT 0 Silent G 36 OR1S2 SNP 11 G A 57727663 57727663 Broad CD5 921 broad.mit.edu GRCh37 11 60889194 60889194 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000347785.3:c.917C>A p.Ala306Asp p.A306D ENST00000347785 NM_014207.3 306 gCc/gAc 0 Missense_Mutation C 26 CD5 SNP 11 C A 60645770 60645770 Broad INTS5 80789 broad.mit.edu GRCh37 11 62416832 62416832 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000330574.2:c.720C>T p.Ser240= p.S240= ENST00000330574 NM_030628.1 240 tcC/tcT 0 Silent G 43 INTS5 SNP 11 G A 62173408 62173408 Broad MAP4K2 5871 broad.mit.edu GRCh37 11 64557096 64557096 + splice_region_variant,synonymous_variant Splice_Region SNP T T C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000294066.2:c.2376A>G p.Arg792= p.R792= ENST00000294066 NM_004579.3 792 agA/agG 0 Silent T 54 MAP4K2 SNP 11 T C 64313672 64313672 Broad MTL5 9633 broad.mit.edu GRCh37 11 68478348 68478348 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000255087.5:c.1328A>T p.His443Leu p.H443L ENST00000255087 NM_004923.3 443 cAc/cTc 0 Missense_Mutation T 59 MTL5 SNP 11 T A 68234924 68234924 Broad FAT3 120114 broad.mit.edu GRCh37 11 92534512 92534512 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000298047.6:c.8333C>G p.Ala2778Gly p.A2778G ENST00000298047 2778 gCt/gGt 0 Missense_Mutation C 28 FAT3 SNP 11 C G 92174160 92174160 Broad KDM5A 5927 broad.mit.edu GRCh37 12 416865 416865 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000399788.2:c.3685C>T p.Leu1229Phe p.L1229F ENST00000399788 NM_001042603.1 1229 Ctc/Ttc 0 Missense_Mutation G 36 KDM5A SNP 12 G A 287126 287126 Broad KIAA1551 55196 broad.mit.edu GRCh37 12 32135646 32135646 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000312561.4:c.1757C>G p.Ala586Gly p.A586G ENST00000312561 NM_018169.3 586 gCt/gGt 0 Missense_Mutation C 28 C12orf35 SNP 12 C G 32026913 32026913 Broad DNAJC22 79962 broad.mit.edu GRCh37 12 49743189 49743189 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000549441.2:c.534C>T p.Leu178= p.L178= ENST00000549441 178 ctC/ctT 0 Silent C 29 DNAJC22 SNP 12 C T 48029456 48029456 Broad AQP2 359 broad.mit.edu GRCh37 12 50348438 50348438 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000199280.3:c.551A>T p.Asn184Ile p.N184I ENST00000199280 NM_000486.5 184 aAt/aTt 0 Missense_Mutation A 4 AQP2 SNP 12 A T 48634705 48634705 Broad FRY 10129 broad.mit.edu GRCh37 13 32811670 32811670 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000380250.3:c.5965G>T p.Gly1989Cys p.G1989C ENST00000380250 NM_023037.2 1989 Ggt/Tgt 0 Missense_Mutation G 47 FRY SNP 13 G T 31709670 31709670 Broad PCDH9 5101 broad.mit.edu GRCh37 13 67477733 67477733 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000544246.1:c.3041A>G p.Asn1014Ser p.N1014S ENST00000544246 NM_203487.2 1014 aAc/aGc 0 Missense_Mutation T 60 PCDH9 SNP 13 T C 66375734 66375734 Broad RNASE7 84659 broad.mit.edu GRCh37 14 21511530 21511530 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000298690.4:c.379A>C p.Asn127His p.N127H ENST00000298690 NM_032572.3 127 Aac/Cac 0 Missense_Mutation A 9 RNASE7 SNP 14 A C 20581370 20581370 Broad CTSG 1511 broad.mit.edu GRCh37 14 25043625 25043625 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000216336.2:c.420G>A p.Thr140= p.T140= ENST00000216336 NM_001911.2 140 acG/acA 0 Silent C 27 CTSG SNP 14 C T 24113465 24113465 Broad ZFYVE26 23503 broad.mit.edu GRCh37 14 68264945 68264945 + synonymous_variant Silent SNP A A G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000347230.4:c.2034T>C p.Phe678= p.F678= ENST00000347230 NM_015346.3 678 ttT/ttC 0 Silent A 9 ZFYVE26 SNP 14 A G 67334698 67334698 Broad FAM161B 145483 broad.mit.edu GRCh37 14 74411263 74411263 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000286544.3:c.889A>G p.Met297Val p.M297V ENST00000286544 NM_152445.2 297 Atg/Gtg 0 Missense_Mutation T 51 FAM161B SNP 14 T C 73481016 73481016 Broad TJP1 7082 broad.mit.edu GRCh37 15 29993876 29993876 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000346128.6:c.5170C>G p.Gln1724Glu p.Q1724E ENST00000346128 NM_175610.2 1724 Caa/Gaa 0 Missense_Mutation G 46 TJP1 SNP 15 G C 27781168 27781168 Broad CHRNA3 1136 broad.mit.edu GRCh37 15 78893716 78893716 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000326828.5:c.1268C>T p.Ser423Phe p.S423F ENST00000326828 NM_000743.4 423 tCt/tTt 0 Missense_Mutation G 33 CHRNA3 SNP 15 G A 76680771 76680771 Broad HDDC3 374659 broad.mit.edu GRCh37 15 91474979 91474979 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000330334.3:c.364G>C p.Asp122His p.D122H ENST00000330334 NM_198527.2 122 Gac/Cac 0 Missense_Mutation C 32 HDDC3 SNP 15 C G 89275983 89275983 Broad LRRK1 79705 broad.mit.edu GRCh37 15 101595299 101595299 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000388948.3:c.4203G>C p.Glu1401Asp p.E1401D ENST00000388948 NM_024652.3 1401 gaG/gaC 0 Missense_Mutation G 34 LRRK1 SNP 15 G C 99412822 99412822 Broad IFT140 9742 broad.mit.edu GRCh37 16 1574866 1574866 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000426508.2:c.2916C>T p.Asp972= p.D972= ENST00000426508 NM_014714.3 972 gaC/gaT 0 Silent G 40 IFT140 SNP 16 G A 1514867 1514867 Broad CREBBP 1387 broad.mit.edu GRCh37 16 3786810 3786810 + synonymous_variant Silent SNP C C G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000262367.5:c.4401G>C p.Val1467= p.V1467= ENST00000262367 NM_004380.2 1467 gtG/gtC 0 Silent C 29 CREBBP SNP 16 C G 3726811 3726811 Broad USP7 7874 broad.mit.edu GRCh37 16 9014258 9014258 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000344836.4:c.569C>T p.Thr190Ile p.T190I ENST00000344836 NM_003470.2 190 aCc/aTc 0 Missense_Mutation G 44 USP7 SNP 16 G A 8921759 8921759 Broad ERN2 10595 broad.mit.edu GRCh37 16 23712287 23712287 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000256797.4:c.1496T>C p.Met499Thr p.M499T ENST00000256797 NM_033266.3 499 aTg/aCg 0 Missense_Mutation A 8 ERN2 SNP 16 A G 23619788 23619788 Broad CES4A 283848 broad.mit.edu GRCh37 16 67029723 67029723 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000540947.2:c.251A>C p.Tyr84Ser p.Y84S ENST00000540947 NM_173815.6 84 tAc/tCc 0 Missense_Mutation A 14 CES8 SNP 16 A C 65587224 65587224 Broad AARS 16 broad.mit.edu GRCh37 16 70304134 70304134 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000261772.8:c.781G>C p.Asp261His p.D261H ENST00000261772 NM_001605.2 261 Gac/Cac 0 Missense_Mutation C 29 AARS SNP 16 C G 68861635 68861635 Broad ANKRD11 29123 broad.mit.edu GRCh37 16 89357587 89357587 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000301030.4:c.231G>C p.Lys77Asn p.K77N ENST00000301030 NM_001256183.1 77 aaG/aaC 0 Missense_Mutation C 28 ANKRD11 SNP 16 C G 87885088 87885088 Broad TP53 7157 broad.mit.edu GRCh37 17 7577548 7577548 + missense_variant Missense_Mutation SNP C C T rs28934575 Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.733G>A p.Gly245Ser p.G245S ENST00000269305 NM_001126112.2 245 Ggc/Agc 0 Missense_Mutation C 23 TP53 SNP 17 C T 7518273 7518273 Broad WFIKKN2 124857 broad.mit.edu GRCh37 17 48918083 48918084 + missense_variant Missense_Mutation DNP GG GG TT novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000311378.4:c.1434_1435delinsTT p.Gly479Cys p.G479C ENST00000311378 NM_175575.5 478 tcGGgc/tcTTgc 0 Missense_Mutation GG 39 WFIKKN2 DNP 17 GG TT 46273083 46273082 Broad MC5R 4161 broad.mit.edu GRCh37 18 13826276 13826276 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000324750.3:c.512C>T p.Thr171Met p.T171M ENST00000324750 NM_005913.2 171 aCg/aTg 0 Missense_Mutation C 19 MC5R SNP 18 C T 13816276 13816276 Broad ANKRD24 170961 broad.mit.edu GRCh37 19 4200140 4200140 + synonymous_variant Silent SNP C C A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000600132.1:c.315C>A p.Gly105= p.G105= ENST00000600132 NM_133475.1 105 ggC/ggA 0 Silent C 25 ANKRD24 SNP 19 C A 4151140 4151140 Broad ACSBG2 81616 broad.mit.edu GRCh37 19 6182869 6182869 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000586696.1:c.1014C>T p.Ser338= p.S338= ENST00000586696 338 tcC/tcT 0 Silent C 21 ACSBG2 SNP 19 C T 6133869 6133869 Broad PSENEN 55851 broad.mit.edu GRCh37 19 36237709 36237709 + synonymous_variant Silent SNP G G C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000587708.2:c.267G>C p.Gly89= p.G89= ENST00000587708 89 ggG/ggC 0 Silent G 43 PSENEN SNP 19 G C 40929549 40929549 Broad PXDN 7837 broad.mit.edu GRCh37 2 1680797 1680797 + synonymous_variant Silent SNP G G C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000252804.4:c.750C>G p.Ser250= p.S250= ENST00000252804 NM_012293.1 250 tcC/tcG 0 Silent G 39 PXDN SNP 2 G C 1659804 1659804 Broad C2orf16 84226 broad.mit.edu GRCh37 2 27803057 27803057 + synonymous_variant Silent SNP A A G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000408964.2:c.3618A>G p.Gln1206= p.Q1206= ENST00000408964 NM_032266.3 1206 caA/caG 0 Silent A 3 C2orf16 SNP 2 A G 27656561 27656561 Broad HEATR5B 54497 broad.mit.edu GRCh37 2 37230724 37230724 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000233099.5:c.5011G>A p.Ala1671Thr p.A1671T ENST00000233099 NM_019024.1 1671 Gct/Act 0 Missense_Mutation C 28 HEATR5B SNP 2 C T 37084228 37084228 Broad AFTPH 54812 broad.mit.edu GRCh37 2 64819122 64819122 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000238855.7:c.2764G>A p.Ala922Thr p.A922T ENST00000238855 NM_203437.3 922 Gcc/Acc 0 Missense_Mutation G 34 AFTPH SNP 2 G A 64672626 64672626 Broad NAT8 9027 broad.mit.edu GRCh37 2 73868394 73868394 + missense_variant Missense_Mutation SNP A A T rs62000430 Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000272425.3:c.362T>A p.Met121Lys p.M121K ENST00000272425 NM_003960.3 121 aTg/aAg 0 Missense_Mutation A 8 NAT8 SNP 2 A T 73721902 73721902 Broad SLC4A5 57835 broad.mit.edu GRCh37 2 74479378 74479378 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000377634.4:c.1406G>T p.Gly469Val p.G469V ENST00000377634 469 gGa/gTa 0 Missense_Mutation C 30 SLC4A5 SNP 2 C A 74332886 74332886 Broad DCTN1 1639 broad.mit.edu GRCh37 2 74593456 74593456 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000361874.3:c.2675C>G p.Ser892Ter p.S892* ENST00000361874 NM_004082.4 892 tCa/tGa 0 Nonsense_Mutation G 45 DCTN1 SNP 2 G C 74446964 74446964 Broad TACR1 6869 broad.mit.edu GRCh37 2 75276651 75276651 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000305249.5:c.1132T>G p.Ser378Ala p.S378A ENST00000305249 NM_001058.3 378 Tcg/Gcg 0 Missense_Mutation A 11 TACR1 SNP 2 A C 75130159 75130159 Broad KCMF1 56888 broad.mit.edu GRCh37 2 85280328 85280328 + synonymous_variant Silent SNP A A C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000409785.4:c.942A>C p.Ala314= p.A314= ENST00000409785 NM_020122.4 314 gcA/gcC 0 Silent A 7 KCMF1 SNP 2 A C 85133839 85133839 Broad TEKT4 150483 broad.mit.edu GRCh37 2 95539776 95539776 + synonymous_variant Silent SNP C C A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000295201.4:c.636C>A p.Ile212= p.I212= ENST00000295201 NM_144705.2 212 atC/atA 0 Silent C 31 TEKT4 SNP 2 C A 94903503 94903503 Broad HNMT 3176 broad.mit.edu GRCh37 2 138771422 138771422 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000280097.3:c.601T>A p.Ser201Thr p.S201T ENST00000280097 NM_006895.2 201 Tca/Aca 0 Missense_Mutation T 50 HNMT SNP 2 T A 138487892 138487892 Broad PKP4 8502 broad.mit.edu GRCh37 2 159519565 159519565 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000389759.3:c.2368A>T p.Lys790Ter p.K790* ENST00000389759 NM_003628.3 790 Aag/Tag 0 Nonsense_Mutation A 9 PKP4 SNP 2 A T 159227811 159227811 Broad FAP 2191 broad.mit.edu GRCh37 2 163027550 163027550 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000188790.4:c.2222C>A p.Thr741Lys p.T741K ENST00000188790 NM_004460.2 741 aCg/aAg 0 Missense_Mutation G 40 FAP SNP 2 G T 162735796 162735796 Broad EVX2 344191 broad.mit.edu GRCh37 2 176945477 176945477 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000308618.4:c.789C>A p.Tyr263Ter p.Y263* ENST00000308618 NM_001080458.1 263 taC/taA 0 Nonsense_Mutation G 48 EVX2 SNP 2 G T 176653723 176653723 Broad ZNF385B 151126 broad.mit.edu GRCh37 2 180409567 180409567 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000410066.1:c.383C>G p.Pro128Arg p.P128R ENST00000410066 NM_152520.4 128 cCa/cGa 0 Missense_Mutation G 47 ZNF385B SNP 2 G C 180117812 180117812 Broad ITGA4 3676 broad.mit.edu GRCh37 2 182350655 182350655 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000397033.2:c.1089A>T p.Lys363Asn p.K363N ENST00000397033 NM_000885.4 363 aaA/aaT 0 Missense_Mutation A 4 ITGA4 SNP 2 A T 182058900 182058900 Broad CERKL 375298 broad.mit.edu GRCh37 2 182423358 182423358 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000339098.5:c.833G>C p.Gly278Ala p.G278A ENST00000339098 278 gGg/gCg 0 Missense_Mutation C 22 CERKL SNP 2 C G 182131603 182131603 Broad MDH1B 130752 broad.mit.edu GRCh37 2 207613841 207613841 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000374412.3:c.1119A>G p.Gly373= p.G373= ENST00000374412 NM_001039845.1 373 ggA/ggG 0 Silent T 54 MDH1B SNP 2 T C 207322086 207322086 Broad TRAF3IP1 26146 broad.mit.edu GRCh37 2 239264709 239264709 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000373327.4:c.1677A>T p.Lys559Asn p.K559N ENST00000373327 NM_015650.3 559 aaA/aaT 0 Missense_Mutation A 2 TRAF3IP1 SNP 2 A T 238929448 238929448 Broad DEFB129 140881 broad.mit.edu GRCh37 20 210247 210247 + synonymous_variant Silent SNP C C A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000246105.4:c.387C>A p.Thr129= p.T129= ENST00000246105 NM_080831.3 129 acC/acA 0 Silent C 21 DEFB129 SNP 20 C A 158247 158247 Broad NDRG3 57446 broad.mit.edu GRCh37 20 35282008 35282008 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000349004.1:c.1043C>A p.Thr348Asn p.T348N ENST00000349004 NM_032013.3 348 aCc/aAc 0 Missense_Mutation G 44 NDRG3 SNP 20 G T 34715422 34715422 Broad TMPRSS15 5651 broad.mit.edu GRCh37 21 19715882 19715882 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000284885.3:c.1369A>T p.Asn457Tyr p.N457Y ENST00000284885 NM_002772.2 457 Aat/Tat 0 Missense_Mutation T 64 TMPRSS15 SNP 21 T A 18637753 18637753 Broad KRTAP12-4 386684 broad.mit.edu GRCh37 21 46074521 46074521 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000391618.1:c.11C>T p.Thr4Ile p.T4I ENST00000391618 NM_198698.1 4 aCc/aTc 0 Missense_Mutation G 44 KRTAP12-4 SNP 21 G A 44898949 44898949 Broad ZNF280A 129025 broad.mit.edu GRCh37 22 22869652 22869652 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000302097.3:c.303G>A p.Met101Ile p.M101I ENST00000302097 NM_080740.3 101 atG/atA 0 Missense_Mutation C 25 ZNF280A SNP 22 C T 21199652 21199652 Broad MYO18B 84700 broad.mit.edu GRCh37 22 26422607 26422607 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000335473.7:c.6667C>A p.Pro2223Thr p.P2223T ENST00000335473 NM_032608.5 2223 Cct/Act 0 Missense_Mutation C 18 MYO18B SNP 22 C A 24752607 24752607 Broad ANO10 55129 broad.mit.edu GRCh37 3 43618190 43618190 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000292246.3:c.1156T>G p.Ser386Ala p.S386A ENST00000292246 NM_018075.3 386 Tca/Gca 0 Missense_Mutation A 9 ANO10 SNP 3 A C 43593194 43593194 Broad VPRBP 9730 broad.mit.edu GRCh37 3 51517772 51517772 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000335891.5:c.73C>T p.His25Tyr p.H25Y ENST00000335891 25 Cat/Tat 0 Missense_Mutation G 48 VPRBP SNP 3 G A 51492812 51492812 Broad GPR15 2838 broad.mit.edu GRCh37 3 98251890 98251890 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000284311.3:c.1013C>A p.Thr338Asn p.T338N ENST00000284311 NM_005290.2 338 aCt/aAt 0 Missense_Mutation C 20 GPR15 SNP 3 C A 99734580 99734580 Broad TMEM45A 55076 broad.mit.edu GRCh37 3 100287741 100287741 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000323523.4:c.664A>T p.Thr222Ser p.T222S ENST00000323523 NM_018004.1 222 Acc/Tcc 0 Missense_Mutation A 6 TMEM45A SNP 3 A T 101770431 101770431 Broad GOLGB1 2804 broad.mit.edu GRCh37 3 121416134 121416134 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000393667.3:c.3236A>C p.Gln1079Pro p.Q1079P ENST00000393667 NM_001256486.1 1079 cAg/cCg 0 Missense_Mutation T 55 GOLGB1 SNP 3 T G 122898824 122898824 Broad COL6A6 131873 broad.mit.edu GRCh37 3 130300562 130300562 + synonymous_variant Silent SNP T T A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000358511.6:c.3705T>A p.Thr1235= p.T1235= ENST00000358511 NM_001102608.1 1235 acT/acA 0 Silent T 54 COL6A6 SNP 3 T A 131783252 131783252 Broad PCOLCE2 26577 broad.mit.edu GRCh37 3 142542456 142542456 + splice_region_variant,synonymous_variant Splice_Region SNP A A G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000295992.3:c.867T>C p.Gly289= p.G289= ENST00000295992 NM_013363.3 289 ggT/ggC 0 Silent A 2 PCOLCE2 SNP 3 A G 144025146 144025146 Broad IGSF10 285313 broad.mit.edu GRCh37 3 151166477 151166477 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000282466.3:c.1292A>G p.Gln431Arg p.Q431R ENST00000282466 NM_178822.4 431 cAa/cGa 0 Missense_Mutation T 63 IGSF10 SNP 3 T C 152649167 152649167 Broad FGF12 2257 broad.mit.edu GRCh37 3 192125868 192125868 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000454309.2:c.145T>C p.Phe49Leu p.F49L ENST00000454309 NM_021032.4 49 Ttc/Ctc 0 Missense_Mutation A 2 FGF12 SNP 3 A G 193608562 193608562 Broad ZDHHC19 131540 broad.mit.edu GRCh37 3 195925218 195925218 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000296326.3:c.878C>T p.Ala293Val p.A293V ENST00000296326 NM_001039617.1 293 gCc/gTc 0 Missense_Mutation G 42 ZDHHC19 SNP 3 G A 197409615 197409615 Broad GNRHR 2798 broad.mit.edu GRCh37 4 68619928 68619928 + synonymous_variant Silent SNP A A G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000226413.4:c.126T>C p.Thr42= p.T42= ENST00000226413 NM_000406.2 42 acT/acC 0 Silent A 3 GNRHR SNP 4 A G 68302523 68302523 Broad MMAA 166785 broad.mit.edu GRCh37 4 146575150 146575150 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000281317.5:c.824T>C p.Ile275Thr p.I275T ENST00000281317 NM_172250.2 275 aTc/aCc 0 Missense_Mutation T 50 MMAA SNP 4 T C 146794600 146794600 Broad PDLIM3 27295 broad.mit.edu GRCh37 4 186429471 186429471 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000284770.5:c.644G>C p.Gly215Ala p.G215A ENST00000284770 NM_014476.5 215 gGg/gCg 0 Missense_Mutation C 22 PDLIM3 SNP 4 C G 186666465 186666465 Broad FAM105B 90268 broad.mit.edu GRCh37 5 14681611 14681611 + synonymous_variant Silent SNP G G T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000284274.4:c.363G>T p.Arg121= p.R121= ENST00000284274 NM_138348.4 121 cgG/cgT 0 Silent G 42 FAM105B SNP 5 G T 14734611 14734611 Broad RICTOR 253260 broad.mit.edu GRCh37 5 38949832 38949832 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000357387.3:c.4118C>T p.Ser1373Phe p.S1373F ENST00000357387 NM_152756.3 1373 tCc/tTc 0 Missense_Mutation G 41 RICTOR SNP 5 G A 38985589 38985589 Broad TRIM36 55521 broad.mit.edu GRCh37 5 114469806 114469806 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000282369.3:c.1285G>A p.Val429Ile p.V429I ENST00000282369 NM_018700.3 429 Gtt/Att 0 Missense_Mutation C 20 TRIM36 SNP 5 C T 114497705 114497705 Broad CHSY3 337876 broad.mit.edu GRCh37 5 129521388 129521388 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000305031.4:c.2553A>T p.Leu851Phe p.L851F ENST00000305031 NM_175856.4 851 ttA/ttT 0 Missense_Mutation A 15 CHSY3 SNP 5 A T 129549287 129549287 Broad GLRA1 2741 broad.mit.edu GRCh37 5 151234691 151234691 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000455880.2:c.607G>T p.Ala203Ser p.A203S ENST00000455880 203 Gcc/Tcc 0 Missense_Mutation C 28 GLRA1 SNP 5 C A 151214884 151214884 Broad OR12D3 81797 broad.mit.edu GRCh37 6 29342727 29342727 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000396806.3:c.338T>A p.Leu113Gln p.L113Q ENST00000396806 NM_030959.2 113 cTg/cAg 0 Missense_Mutation A 7 OR12D3 SNP 6 A T 29450706 29450706 Broad GABBR1 2550 broad.mit.edu GRCh37 6 29589568 29589568 + synonymous_variant Silent SNP T T A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000377034.4:c.1092A>T p.Gly364= p.G364= ENST00000377034 NM_001470.2 364 ggA/ggT 0 Silent T 58 GABBR1 SNP 6 T A 29697547 29697547 Broad VPS52 6293 broad.mit.edu GRCh37 6 33236364 33236364 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000445902.2:c.611C>G p.Ala204Gly p.A204G ENST00000445902 NM_022553.4 204 gCc/gGc 0 Missense_Mutation G 42 VPS52 SNP 6 G C 33344342 33344342 Broad TAPBP 6892 broad.mit.edu GRCh37 6 33272149 33272149 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000426633.2:c.1135C>T p.Arg379Cys p.R379C ENST00000426633 NM_172208.2 379 Cgc/Tgc 0 Missense_Mutation G 40 TAPBP SNP 6 G A 33380127 33380127 Broad GFRAL 389400 broad.mit.edu GRCh37 6 55216051 55216051 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000340465.2:c.371G>T p.Gly124Val p.G124V ENST00000340465 NM_207410.2 124 gGa/gTa 0 Missense_Mutation G 41 GFRAL SNP 6 G T 55324010 55324010 Broad DST 667 broad.mit.edu GRCh37 6 56471961 56471961 + intron_variant Intron SNP G G T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000244364.6:c.3672+3264C>A *1224* ENST00000244364 NM_015548.4 0 Missense_Mutation G 47 DST SNP 6 G T 56579920 56579920 Broad EPHA7 2045 broad.mit.edu GRCh37 6 94120729 94120729 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000369303.4:c.322G>A p.Asp108Asn p.D108N ENST00000369303 NM_004440.3 108 Gat/Aat 0 Missense_Mutation C 30 EPHA7 SNP 6 C T 94177450 94177450 Broad VNN1 8876 broad.mit.edu GRCh37 6 133004390 133004390 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000367928.4:c.1431G>A p.Gly477= p.G477= ENST00000367928 NM_004666.2 477 ggG/ggA 0 Silent C 30 VNN1 SNP 6 C T 133046083 133046083 Broad ZNF680 340252 broad.mit.edu GRCh37 7 64004785 64004785 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000309683.6:c.56C>A p.Ala19Asp p.A19D ENST00000309683 NM_178558.4 19 gCc/gAc 0 Missense_Mutation G 42 ZNF680 SNP 7 G T 63642220 63642220 Broad ELN 2006 broad.mit.edu GRCh37 7 73471993 73471993 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000252034.7:c.1381G>T p.Ala461Ser p.A461S ENST00000252034 NM_000501.3 461 Gct/Tct 0 Missense_Mutation G 34 ELN SNP 7 G T 73109929 73109929 Broad CLCN1 1180 broad.mit.edu GRCh37 7 143018909 143018909 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000343257.2:c.664G>T p.Gly222Cys p.G222C ENST00000343257 NM_000083.2 222 Ggc/Tgc 0 Missense_Mutation G 43 CLCN1 SNP 7 G T 142729031 142729031 Broad HMBOX1 79618 broad.mit.edu GRCh37 8 28876381 28876381 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000397358.3:c.802C>G p.Arg268Gly p.R268G ENST00000397358 NM_024567.3 268 Cga/Gga 0 Missense_Mutation C 19 HMBOX1 SNP 8 C G 28932300 28932300 Broad KAT6A 7994 broad.mit.edu GRCh37 8 41805418 41805418 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000396930.3:c.1753G>A p.Val585Met p.V585M ENST00000396930 NM_001099412.1 585 Gtg/Atg 0 Missense_Mutation C 17 MYST3 SNP 8 C T 41924575 41924575 Broad SLC20A2 6575 broad.mit.edu GRCh37 8 42287737 42287737 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000342228.3:c.1554G>T p.Trp518Cys p.W518C ENST00000342228 NM_006749.4 518 tgG/tgT 0 Missense_Mutation C 26 SLC20A2 SNP 8 C A 42406894 42406894 Broad PLEKHF2 79666 broad.mit.edu GRCh37 8 96166990 96166990 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000315367.3:c.718G>A p.Asp240Asn p.D240N ENST00000315367 NM_024613.3 240 Gat/Aat 0 Missense_Mutation G 45 PLEKHF2 SNP 8 G A 96236166 96236166 Broad DEPTOR 64798 broad.mit.edu GRCh37 8 121061814 121061814 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000286234.5:c.1102-1G>T p.X368_splice ENST00000286234 NM_022783.2 0 Splice_Site_SNP G 35 DEPDC6 SNP 8 G T 121130995 121130995 Broad KIFC2 90990 broad.mit.edu GRCh37 8 145694904 145694904 + synonymous_variant Silent SNP A A C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000301332.2:c.1254A>C p.Pro418= p.P418= ENST00000301332 NM_145754.2 418 ccA/ccC 0 Silent A 7 KIFC2 SNP 8 A C 145665712 145665712 Broad DFNB31 25861 broad.mit.edu GRCh37 9 117266603 117266603 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000362057.3:c.479C>G p.Ser160Trp p.S160W ENST00000362057 NM_001173425.1 160 tCg/tGg 0 Missense_Mutation G 37 DFNB31 SNP 9 G C 116306424 116306424 Broad RXRA 6256 broad.mit.edu GRCh37 9 137326002 137326002 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000481739.1:c.1190A>G p.Tyr397Cys p.Y397C ENST00000481739 NM_002957.4 397 tAt/tGt 0 Missense_Mutation A 16 RXRA SNP 9 A G 136465823 136465823 Broad SEC16A 9919 broad.mit.edu GRCh37 9 139370014 139370014 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000313050.7:c.2054C>T p.Ala685Val p.A685V ENST00000313050 NM_014866.1 685 gCt/gTt 0 Missense_Mutation G 34 SEC16A SNP 9 G A 138489835 138489835 Broad CXorf23 256643 broad.mit.edu GRCh37 X 19983772 19983772 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000379687.3:c.664A>G p.Lys222Glu p.K222E ENST00000379687 NM_198279.3 222 Aaa/Gaa 0 Missense_Mutation T 61 CXorf23 SNP 23 T C 19893693 19893693 Broad KLF8 11279 broad.mit.edu GRCh37 X 56291712 56291712 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000468660.1:c.181G>A p.Ala61Thr p.A61T ENST00000468660 NM_007250.4 61 Gca/Aca 0 Missense_Mutation G 34 KLF8 SNP 23 G A 56308437 56308437 Broad RGAG4 340526 broad.mit.edu GRCh37 X 71351055 71351055 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000545866.1:c.336C>T p.Ser112= p.S112= ENST00000545866 NM_001024455.3 112 agC/agT 0 Silent G 46 RGAG4 SNP 23 G A 71267780 71267780 Broad MAGEC1 9947 broad.mit.edu GRCh37 X 140995759 140995759 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000285879.4:c.2569T>A p.Ser857Thr p.S857T ENST00000285879 NM_005462.4 857 Tcc/Acc 0 Missense_Mutation T 54 MAGEC1 SNP 23 T A 140823425 140823425 Broad HCFC1 3054 broad.mit.edu GRCh37 X 153236183 153236183 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown x x x ENST00000310441.7:c.109C>T p.Arg37Cys p.R37C ENST00000310441 NM_005334.2 37 Cgc/Tgc 0 Missense_Mutation G 39 HCFC1 SNP 23 G A 152889377 152889377 Broad CUBN 8029 broad.mit.edu GRCh37 10 16955948 16955948 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000377833.4:c.7395del p.Asn2467ThrfsTer26 p.N2467Tfs*26 ENST00000377833 NM_001081.3 2465 tcT/tc 0 Frame_Shift_Del A 11 CUBN DEL 10 - A 16995954 16995954 Broad TLE2 7089 broad.mit.edu GRCh37 19 3028803 3028804 + splice_region_variant,intron_variant Splice_Region INS - - G novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000262953.6:c.25-3dupC p.X9_splice ENST00000262953 NM_003260.4 0 Splice_Site_Ins - 55 TLE2 INS 19 G - 2979804 2979803 Broad ZNF264 9422 broad.mit.edu GRCh37 19 57724268 57724284 + frameshift_variant Frame_Shift_Del DEL AAATATTTTGCCAGAGG AAATATTTTGCCAGAGG - novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000263095.6:c.1806_1822del p.Leu604PhefsTer5 p.L604Ffs*5 ENST00000263095 NM_003417.4 601 gcAAATATTTTGCCAGAGGaa/gcaa 0 Frame_Shift_Del AAATATTTTGCCAGAGG 5 ZNF264 DEL 19 - AAATATTTTGCCAGAGG 62416096 62416080 Broad MYO7B 4648 broad.mit.edu GRCh37 2 128366397 128366397 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-09-2049-01 TCGA-09-2049-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000428314.1:c.2759del p.Gly920AlafsTer6 p.G920Afs*6 ENST00000428314 NM_001080527.1 920 Ggc/gc 0 Frame_Shift_Del G 39 MYO7B DEL 2 - G 128082867 128082867 Broad GEMIN4 50628 genome.wustl.edu GRCh37 17 649180 649180 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319004.5:c.2103G>C p.Leu701Phe p.L701F ENST00000319004 NM_015721.2 701 ttG/ttC 0 Missense_Mutation C 17 GEMIN4 SNP 17 C G 595930 595930 WashU RGS12 6002 genome.wustl.edu GRCh37 4 3430410 3430410 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000344733.5:c.3537T>C p.Tyr1179= p.Y1179= ENST00000344733 NM_198229.2 1179 taT/taC 0 Silent T 50 RGS12 SNP 4 C C 3400208 3400208 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578265 7578265 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.584T>A p.Ile195Asn p.I195N ENST00000269305 NM_001126112.2 195 aTc/aAc 0 Missense_Mutation A 12 TP53 SNP 17 T T 7518990 7518990 WashU CDH12 1010 genome.wustl.edu GRCh37 5 21975435 21975435 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000382254.1:c.291C>T p.Gly97= p.G97= ENST00000382254 NM_004061.3 97 ggC/ggT 0 Silent G 38 CDH12 SNP 5 G A 22011192 22011192 WashU OR5R1 219479 genome.wustl.edu GRCh37 11 56184844 56184844 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312253.1:c.865A>T p.Ile289Phe p.I289F ENST00000312253 NM_001004744.1 289 Atc/Ttc 0 Missense_Mutation T 52 OR5R1 SNP 11 T A 55941420 55941420 WashU ERC2 26059 genome.wustl.edu GRCh37 3 56026090 56026090 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000288221.6:c.2250G>C p.Leu750= p.L750= ENST00000288221 NM_015576.1 750 ctG/ctC 0 Silent C 21 ERC2 SNP 3 C G 56001130 56001130 WashU CYB561 1534 genome.wustl.edu GRCh37 17 61514835 61514835 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 A A C C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392976.1:c.74T>G p.Leu25Arg p.L25R ENST00000392976 NM_001017916.1 25 cTg/cGg 0 Missense_Mutation A 7 CYB561 SNP 17 C C 58868567 58868567 WashU MS4A10 341116 genome.wustl.edu GRCh37 11 60559755 60559755 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308287.1:c.321C>A p.Ile107= p.I107= ENST00000308287 NM_206893.3 107 atC/atA 0 Silent C 32 MS4A10 SNP 11 A A 60316331 60316331 WashU PRKRIR 5612 genome.wustl.edu GRCh37 11 76061964 76061964 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260045.3:c.2230T>C p.Tyr744His p.Y744H ENST00000260045 NM_004705.2 744 Tat/Cat 0 Missense_Mutation A 15 PRKRIR SNP 11 A G 75739612 75739612 WashU SEMA4D 10507 genome.wustl.edu GRCh37 9 92003959 92003959 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000450295.1:c.778G>A p.Asp260Asn p.D260N ENST00000450295 260 Gac/Aac 0 Missense_Mutation C 30 SEMA4D SNP 9 C T 91193779 91193779 WashU EPHA7 2045 genome.wustl.edu GRCh37 6 94120755 94120755 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369303.4:c.296T>C p.Phe99Ser p.F99S ENST00000369303 NM_004440.3 99 tTt/tCt 0 Missense_Mutation A 1 EPHA7 SNP 6 G G 94177476 94177476 WashU MUC3A 4584 genome.wustl.edu GRCh37 7 100552066 100552066 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319509.7:c.817G>T p.Glu273Ter p.E273* ENST00000319509 273 Gaa/Taa 0 Nonsense_Mutation G 33 MUC3B SNP 7 G T 100390002 100390002 WashU CEP97 79598 genome.wustl.edu GRCh37 3 101474383 101474383 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000341893.3:c.838C>G p.Leu280Val p.L280V ENST00000341893 280 Cta/Gta 0 Missense_Mutation C 20 CEP97 SNP 3 C G 102957073 102957073 WashU OVGP1 5016 genome.wustl.edu GRCh37 1 111957639 111957639 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369732.3:c.1484C>T p.Thr495Ile p.T495I ENST00000369732 NM_002557.3 495 aCc/aTc 0 Missense_Mutation G 44 OVGP1 SNP 1 A A 111759162 111759162 WashU NRAP 4892 genome.wustl.edu GRCh37 10 115412757 115412757 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359988.3:c.507C>A p.Ser169Arg p.S169R ENST00000359988 NM_001261463.1 169 agC/agA 0 Missense_Mutation G 34 NRAP SNP 10 G T 115402747 115402747 WashU STK10 6793 genome.wustl.edu GRCh37 5 171583695 171583695 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000176763.5:c.254T>C p.Leu85Pro p.L85P ENST00000176763 NM_005990.3 85 cTg/cCg 0 Missense_Mutation A 7 STK10 SNP 5 G G 171516300 171516300 WashU ATIC 471 genome.wustl.edu GRCh37 2 216203553 216203553 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1428-01 TCGA-24-1428-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000236959.9:c.1150C>T p.Leu384Phe p.L384F ENST00000236959 NM_004044.6 384 Ctt/Ttt 0 Missense_Mutation C 32 ATIC SNP 2 C T 215911798 215911798 WashU ACVR2B 93 hgsc.bcm.edu GRCh37 3 38520697 38520697 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000352511.4:c.745G>C p.Ala249Pro p.A249P ENST00000352511 NM_001106.3 249 Gct/Cct 0 Missense_Mutation G 46 ACVR2B SNP 3 G C 38495701 38495701 Baylor ARHGEF12 23365 hgsc.bcm.edu GRCh37 11 120335957 120335957 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397843.2:c.2625A>T p.Pro875= p.P875= ENST00000397843 NM_015313.2 875 ccA/ccT 0 Silent A 7 ARHGEF12 SNP 11 A T 119841167 119841167 Baylor CASP5 838 hgsc.bcm.edu GRCh37 11 104878041 104878041 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393141.2:c.241delA p.Thr81GlnfsTer26 p.T81Qfs*26 ENST00000393141 NM_004347.3 81 Aca/ca 0 Frame_Shift_Del T 60 CASP5 DEL 11 T - 104383251 104383251 Baylor CLN6 54982 hgsc.bcm.edu GRCh37 15 68506674 68506674 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000249806.5:c.251del p.Tyr84SerfsTer32 p.Y84Sfs*32 ENST00000249806 NM_017882.2 84 tAc/tc 0 Frame_Shift_Del T 57 CLN6 DEL 15 T - 66293728 66293728 Baylor CNTNAP5 129684 hgsc.bcm.edu GRCh37 2 125281883 125281883 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000431078.1:c.1328G>A p.Ser443Asn p.S443N ENST00000431078 NM_130773.3 443 aGc/aAc 0 Missense_Mutation G 34 CNTNAP5 SNP 2 G A 124998353 124998353 Baylor CSMD1 64478 hgsc.bcm.edu GRCh37 8 3266999 3266999 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000537824.1:c.1690del p.Val564LeufsTer45 p.V564Lfs*45 ENST00000537824 NM_033225.5 564 Gtt/tt 0 Frame_Shift_Del C 20 CSMD1 DEL 8 C - 3254406 3254406 Baylor CUBN 8029 hgsc.bcm.edu GRCh37 10 16967769 16967769 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377833.4:c.6276C>T p.Cys2092= p.C2092= ENST00000377833 NM_001081.3 2092 tgC/tgT 0 Silent G 38 CUBN SNP 10 G A 17007775 17007775 Baylor DGKK 139189 hgsc.bcm.edu GRCh37 X 50167292 50167293 + non_coding_transcript_exon_variant RNA INS - - A novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000376025.2:n.769dup *257* ENST00000376025 0 Frame_Shift_Ins - 49 DGKK INS 23 - A 50184033 50184032 Baylor DKK2 27123 hgsc.bcm.edu GRCh37 4 107845721 107845721 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000285311.3:c.510T>A p.Thr170= p.T170= ENST00000285311 NM_014421.2 170 acT/acA 0 Silent A 15 DKK2 SNP 4 A T 108065170 108065170 Baylor DNAH11 8701 hgsc.bcm.edu GRCh37 7 21609827 21609827 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328843.6:c.1335T>C p.Phe445= p.F445= ENST00000328843 445 ttT/ttC 0 Silent T 61 DNAH11 SNP 7 T C 21576352 21576352 Baylor FAT3 120114 hgsc.bcm.edu GRCh37 11 92592429 92592429 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000298047.6:c.11599A>G p.Thr3867Ala p.T3867A ENST00000298047 3867 Aca/Gca 0 Missense_Mutation A 2 FAT3 SNP 11 A G 92232077 92232077 Baylor FAT3 120114 hgsc.bcm.edu GRCh37 11 92592450 92592450 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000298047.6:c.11620A>T p.Ile3874Leu p.I3874L ENST00000298047 3874 Ata/Tta 0 Missense_Mutation A 16 FAT3 SNP 11 A T 92232098 92232098 Baylor CLDN25 644672 hgsc.bcm.edu GRCh37 11 113650550 113650551 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000453129.2:c.39dupG p.Leu14AlafsTer24 p.L14Afs*24 ENST00000453129 NM_001101389.1 11 -/G 0 Frame_Shift_Ins - 31 LOC644672 INS 11 - G 113155761 113155760 Baylor KCNH5 27133 hgsc.bcm.edu GRCh37 14 63174535 63174535 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000322893.7:c.2658G>A p.Glu886= p.E886= ENST00000322893 NM_139318.4 886 gaG/gaA 0 Silent C 28 KCNH5 SNP 14 C T 62244288 62244288 Baylor MAK16 84549 hgsc.bcm.edu GRCh37 8 33346510 33346510 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360128.6:c.245G>A p.Arg82Gln p.R82Q ENST00000360128 NM_032509.3 82 cGg/cAg 0 Missense_Mutation G 39 MAK16 SNP 8 G A 33466052 33466052 Baylor MDFIC 29969 hgsc.bcm.edu GRCh37 7 114619677 114619677 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000257724.3:c.661G>C p.Gly221Arg p.G221R ENST00000257724 221 Ggg/Cgg 0 Missense_Mutation G 39 MDFIC SNP 7 G C 114406913 114406913 Baylor MPPE1 65258 hgsc.bcm.edu GRCh37 18 11886921 11886921 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000588072.1:c.673C>T p.Arg225Ter p.R225* ENST00000588072 NM_023075.5 225 Cga/Tga 0 Nonsense_Mutation G 39 MPPE1 SNP 18 G A 11876921 11876921 Baylor MUC6 4588 hgsc.bcm.edu GRCh37 11 1017069 1017069 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000421673.2:c.5732C>T p.Thr1911Met p.T1911M ENST00000421673 NM_005961.2 1911 aCg/aTg 0 Missense_Mutation G 40 MUC6 SNP 11 G A 1007069 1007069 Baylor NCOR2 9612 hgsc.bcm.edu GRCh37 12 124840034 124840037 + frameshift_variant Frame_Shift_Del DEL TGAG TGAG - novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 TGAG TGAG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000405201.1:c.3322_3325del p.Leu1108SerfsTer14 p.L1108Sfs*14 ENST00000405201 1108 CTCAtc/tc 0 Frame_Shift_Del TGAG 51 NCOR2 DEL 12 TGAG - 123405990 123405987 Baylor OPCML 4978 hgsc.bcm.edu GRCh37 11 132307168 132307168 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000331898.7:c.612G>A p.Ala204= p.A204= ENST00000331898 NM_002545.3 204 gcG/gcA 0 Silent C 19 OPCML SNP 11 C T 131812378 131812378 Baylor PAH 5053 hgsc.bcm.edu GRCh37 12 103249075 103249075 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000553106.1:c.545A>G p.Glu182Gly p.E182G ENST00000553106 NM_000277.1 182 gAa/gGa 0 Missense_Mutation T 62 PAH SNP 12 T C 101773205 101773205 Baylor PHF20 51230 hgsc.bcm.edu GRCh37 20 34457456 34457456 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374012.3:c.905G>A p.Arg302Gln p.R302Q ENST00000374012 302 cGg/cAg 0 Missense_Mutation G 39 PHF20 SNP 20 G A 33920870 33920870 Baylor PHKG2 5261 hgsc.bcm.edu GRCh37 16 30762916 30762916 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000563588.1:c.318G>C p.Val106= p.V106= ENST00000563588 NM_000294.2 106 gtG/gtC 0 Silent G 48 PHKG2 SNP 16 G C 30670417 30670417 Baylor PREX1 57580 hgsc.bcm.edu GRCh37 20 47351083 47351083 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371941.3:c.519G>C p.Leu173Phe p.L173F ENST00000371941 NM_020820.3 173 ttG/ttC 0 Missense_Mutation C 21 PREX1 SNP 20 C G 46784490 46784490 Baylor PRKCI 5584 hgsc.bcm.edu GRCh37 3 170013719 170013719 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295797.4:c.1438C>T p.Arg480Cys p.R480C ENST00000295797 NM_002740.5 480 Cgc/Tgc 0 Missense_Mutation C 31 PRKCI SNP 3 C T 171496413 171496413 Baylor PRMT5 10419 hgsc.bcm.edu GRCh37 14 23393852 23393852 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000324366.8:c.1006C>G p.Gln336Glu p.Q336E ENST00000324366 NM_006109.3 336 Cag/Gag 0 Missense_Mutation G 45 PRMT5 SNP 14 G C 22463692 22463692 Baylor PSORS1C1 170679 hgsc.bcm.edu GRCh37 6 31106500 31106501 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000259881.9:c.118dup p.His40ProfsTer3 p.H40Pfs*3 ENST00000259881 NM_014068.2 37 -/C 0 Frame_Shift_Ins - 58 PSORS1C1 INS 6 - C 31214480 31214479 Baylor SCN5A 6331 hgsc.bcm.edu GRCh37 3 38595909 38595909 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000413689.1:c.4674del p.Asn1558LysfsTer73 p.N1558Kfs*73 ENST00000413689 NM_001160160.1 1558 aaC/aa 0 Frame_Shift_Del G 48 SCN5A DEL 3 G - 38570913 38570913 Baylor SFXN4 119559 hgsc.bcm.edu GRCh37 10 120920467 120920467 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355697.2:c.294C>G p.Pro98= p.P98= ENST00000355697 NM_213649.1 98 ccC/ccG 0 Silent G 39 SFXN4 SNP 10 G C 120910457 120910457 Baylor SLCO4C1 353189 hgsc.bcm.edu GRCh37 5 101585419 101585419 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310954.6:c.1543G>A p.Val515Ile p.V515I ENST00000310954 NM_180991.4 515 Gtc/Atc 0 Missense_Mutation C 17 SLCO4C1 SNP 5 C T 101613318 101613318 Baylor SPEF2 79925 hgsc.bcm.edu GRCh37 5 35644569 35644569 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356031.3:c.527A>G p.Glu176Gly p.E176G ENST00000356031 NM_024867.3 176 gAg/gGg 0 Missense_Mutation A 11 SPEF2 SNP 5 A G 35680326 35680326 Baylor TANC2 26115 hgsc.bcm.edu GRCh37 17 61315435 61315435 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000424789.2:c.808G>A p.Ala270Thr p.A270T ENST00000424789 NM_025185.3 270 Gca/Aca 0 Missense_Mutation G 34 TANC2 SNP 17 G A 58669167 58669167 Baylor USP24 23358 hgsc.bcm.edu GRCh37 1 55612632 55612632 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000294383.6:c.2220T>G p.Thr740= p.T740= ENST00000294383 NM_015306.2 740 acT/acG 0 Silent A 7 USP24 SNP 1 A C 55385220 55385220 Baylor WEE1 7465 hgsc.bcm.edu GRCh37 11 9598752 9598752 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1407-01 TCGA-13-1407-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000450114.2:c.1083A>G p.Arg361= p.R361= ENST00000450114 NM_003390.3 361 cgA/cgG 0 Silent A 12 WEE1 SNP 11 A G 9555328 9555328 Baylor ABCD2 225 hgsc.bcm.edu GRCh37 12 39997787 39997787 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000308666.3:c.1427A>G p.His476Arg p.H476R ENST00000308666 NM_005164.3 476 cAc/cGc 0 Missense_Mutation T 59 ABCD2 SNP 12 T C 38284054 38284054 Baylor ADAMTS12 81792 hgsc.bcm.edu GRCh37 5 33596148 33596148 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000504830.1:c.2545G>A p.Ala849Thr p.A849T ENST00000504830 NM_030955.2 849 Gcc/Acc 0 Missense_Mutation C 25 ADAMTS12 SNP 5 C T 33631905 33631905 Baylor ADAMTS20 80070 hgsc.bcm.edu GRCh37 12 43896143 43896154 + inframe_deletion In_Frame_Del DEL CATTAAGATCTT CATTAAGATCTT - novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 CATTAAGATCTT CATTAAGATCTT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000389420.3:c.668_679del p.Glu223_Asn226del p.E223_N226del ENST00000389420 NM_025003.3 223 gAAGATCTTAATGta/gta 0 In_Frame_Del CATTAAGATCTT 17 ADAMTS20 DEL 12 CATTAAGATCTT - 42182421 42182410 Baylor AFTPH 54812 hgsc.bcm.edu GRCh37 2 64778885 64778885 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000238855.7:c.277A>G p.Thr93Ala p.T93A ENST00000238855 NM_203437.3 93 Act/Gct 0 Missense_Mutation A 6 AFTPH SNP 2 A G 64632389 64632389 Baylor ATF6 22926 hgsc.bcm.edu GRCh37 1 161821600 161821600 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367942.3:c.1408C>G p.Leu470Val p.L470V ENST00000367942 NM_007348.3 470 Cta/Gta 0 Missense_Mutation C 24 ATF6 SNP 1 C G 160088224 160088224 Baylor ATP13A5 344905 hgsc.bcm.edu GRCh37 3 193096507 193096507 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000342358.4:c.8A>G p.Glu3Gly p.E3G ENST00000342358 NM_198505.2 3 gAg/gGg 0 Missense_Mutation T 54 ATP13A5 SNP 3 T C 194579201 194579201 Baylor AWAT1 158833 hgsc.bcm.edu GRCh37 X 69459756 69459756 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374521.3:c.804G>A p.Leu268= p.L268= ENST00000374521 NM_001013579.2 268 ctG/ctA 0 Silent G 46 AWAT1 SNP 23 G A 69376481 69376481 Baylor NADK2 133686 hgsc.bcm.edu GRCh37 5 36219718 36219720 + inframe_deletion In_Frame_Del DEL CTT CTT - novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 CTT CTT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381937.4:c.622_624del p.Lys208del p.K208del ENST00000381937 NM_001085411.1 208 AAG/- 0 In_Frame_Del CTT 20 C5orf33 DEL 5 CTT - 36255477 36255475 Baylor NADK2 133686 hgsc.bcm.edu GRCh37 5 36219720 36219720 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381937.4:c.622A>T p.Lys208Ter p.K208* ENST00000381937 NM_001085411.1 208 Aag/Tag 0 Nonsense_Mutation T 62 C5orf33 SNP 5 T A 36255477 36255477 Baylor CCDC18 343099 hgsc.bcm.edu GRCh37 1 93680443 93680443 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370276.1:c.1797G>A p.Ala600Thr p.A600T ENST00000370276 600 Gct/Act 0 Missense_Mutation G 42 CCDC18 SNP 1 G A 93453031 93453031 Baylor CCT5 22948 hgsc.bcm.edu GRCh37 5 10262704 10262704 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000280326.4:c.1291C>G p.Leu431Val p.L431V ENST00000280326 NM_012073.3 431 Ctg/Gtg 0 Missense_Mutation C 24 CCT5 SNP 5 C G 10315704 10315704 Baylor CD3EAP 10849 hgsc.bcm.edu GRCh37 19 45912180 45912180 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000309424.3:c.954G>A p.Leu318= p.L318= ENST00000309424 NM_012099.1 318 ctG/ctA 0 Silent G 47 CD3EAP SNP 19 G A 50604020 50604020 Baylor CDH7 1005 hgsc.bcm.edu GRCh37 18 63527046 63527054 + inframe_deletion In_Frame_Del DEL TTGAAAGAT TTGAAAGAT - novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 TTGAAAGAT TTGAAAGAT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397968.2:c.1597_1605del p.Leu533_Asp535del p.L533_D535del ENST00000397968 NM_004361.2 533 TTGAAAGAT/- 0 In_Frame_Del TTGAAAGAT 52 CDH7 DEL 18 TTGAAAGAT - 61678034 61678026 Baylor CELSR3 1951 hgsc.bcm.edu GRCh37 3 48680318 48680318 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000164024.4:c.8407-1G>A p.X2803_splice ENST00000164024 NM_001407.2 0 Splice_Site_SNP C 24 CELSR3 SNP 3 C T 48655322 48655322 Baylor CHMP2B 25978 hgsc.bcm.edu GRCh37 3 87294929 87294929 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263780.4:c.192A>G p.Gln64= p.Q64= ENST00000263780 NM_014043.3 64 caA/caG 0 Silent A 2 CHMP2B SNP 3 A G 87377619 87377619 Baylor COL11A1 1301 hgsc.bcm.edu GRCh37 1 103488342 103488342 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 A A A C A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000370096.3:c.1201T>G p.Phe401Val p.F401V ENST00000370096 NM_001854.3 401 Ttt/Gtt 0 Missense_Mutation A 4 COL11A1 SNP 1 A C 103260930 103260930 Baylor DDOST 1650 hgsc.bcm.edu GRCh37 1 20981953 20981953 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375048.3:c.582C>T p.Pro194= p.P194= ENST00000375048 NM_005216.4 194 ccC/ccT 0 Silent G 47 DDOST SNP 1 G A 20854540 20854540 Baylor DNAJC10 54431 hgsc.bcm.edu GRCh37 2 183593684 183593684 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264065.7:c.596A>G p.Asn199Ser p.N199S ENST00000264065 NM_018981.2 199 aAc/aGc 0 Missense_Mutation A 2 DNAJC10 SNP 2 A G 183301929 183301929 Baylor DTNB 1838 hgsc.bcm.edu GRCh37 2 25678315 25678315 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000406818.3:c.1128G>T p.Ala376= p.A376= ENST00000406818 NM_001256303.1 376 gcG/gcT 0 Silent C 27 DTNB SNP 2 C A 25531819 25531819 Baylor DUSP13 51207 hgsc.bcm.edu GRCh37 10 76863775 76863775 + intron_variant Intron SNP C C T novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372700.3:c.149+4992G>A *50* ENST00000372700 NM_001007272.1 0 Silent C 21 DUSP13 SNP 10 C T 76533781 76533781 Baylor EXD2 55218 hgsc.bcm.edu GRCh37 14 69695625 69695625 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000409018.3:c.426C>G p.Ile142Met p.I142M ENST00000409018 NM_001193361.1 142 atC/atG 0 Missense_Mutation C 32 EXD2 SNP 14 C G 68765378 68765378 Baylor FCRL4 83417 hgsc.bcm.edu GRCh37 1 157559005 157559005 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000271532.1:c.296T>G p.Leu99Arg p.L99R ENST00000271532 NM_031282.2 99 cTc/cGc 0 Missense_Mutation A 11 FCRL4 SNP 1 A C 155825629 155825629 Baylor FSCN3 29999 hgsc.bcm.edu GRCh37 7 127235527 127235527 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265825.5:c.311A>T p.Lys104Met p.K104M ENST00000265825 NM_020369.2 104 aAg/aTg 0 Missense_Mutation A 3 FSCN3 SNP 7 A T 127022763 127022763 Baylor GDPD3 79153 hgsc.bcm.edu GRCh37 16 30119702 30119702 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000406256.3:c.759T>A p.Val253= p.V253= ENST00000406256 NM_024307.2 253 gtT/gtA 0 Silent A 1 GDPD3 SNP 16 A T 30027203 30027203 Baylor GNL2 29889 hgsc.bcm.edu GRCh37 1 38061393 38061393 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373062.3:c.31A>C p.Thr11Pro p.T11P ENST00000373062 NM_013285.2 11 Acc/Ccc 0 Missense_Mutation T 59 GNL2 SNP 1 T G 37833980 37833980 Baylor HHAT 55733 hgsc.bcm.edu GRCh37 1 210560897 210560897 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000545154.1:c.248C>G p.Ser83Cys p.S83C ENST00000545154 NM_001170587.1 83 tCt/tGt 0 Missense_Mutation C 32 HHAT SNP 1 C G 208627520 208627520 Baylor HIST4H4 121504 hgsc.bcm.edu GRCh37 12 14923910 14923910 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000539745.1:c.109C>T p.Arg37Cys p.R37C ENST00000539745 NM_175054.2 37 Cgt/Tgt 0 Missense_Mutation G 39 HIST4H4 SNP 12 G A 14815177 14815177 Baylor HOXD10 3236 hgsc.bcm.edu GRCh37 2 176983838 176983838 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000249501.4:c.902A>C p.Lys301Thr p.K301T ENST00000249501 NM_002148.3 301 aAg/aCg 0 Missense_Mutation A 3 HOXD10 SNP 2 A C 176692084 176692084 Baylor HOXD10 3236 hgsc.bcm.edu GRCh37 2 176983842 176983842 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000249501.4:c.906C>T p.Ser302= p.S302= ENST00000249501 NM_002148.3 302 agC/agT 0 Silent C 27 HOXD10 SNP 2 C T 176692088 176692088 Baylor IL17F 112744 hgsc.bcm.edu GRCh37 6 52101943 52101943 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000336123.4:c.278A>T p.Tyr93Phe p.Y93F ENST00000336123 NM_052872.3 93 tAc/tTc 0 Missense_Mutation T 57 IL17F SNP 6 T A 52209902 52209902 Baylor ITIH4 3700 hgsc.bcm.edu GRCh37 3 52848038 52848038 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000266041.4:c.2676C>T p.Asp892= p.D892= ENST00000266041 NM_002218.4 892 gaC/gaT 0 Silent G 40 ITIH4 SNP 3 G A 52823078 52823078 Baylor KCNQ2 3785 hgsc.bcm.edu GRCh37 20 62071043 62071043 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359125.2:c.835G>A p.Gly279Ser p.G279S ENST00000359125 NM_172107.2 279 Ggc/Agc 0 Missense_Mutation C 21 KCNQ2 SNP 20 C T 61541487 61541487 Baylor KNDC1 85442 hgsc.bcm.edu GRCh37 10 135020391 135020391 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000304613.3:c.3513G>T p.Leu1171= p.L1171= ENST00000304613 1171 ctG/ctT 0 Silent G 45 KNDC1 SNP 10 G T 134870381 134870381 Baylor LRP1B 53353 hgsc.bcm.edu GRCh37 2 141460057 141460057 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000389484.3:c.6089A>G p.Glu2030Gly p.E2030G ENST00000389484 NM_018557.2 2030 gAg/gGg 0 Missense_Mutation T 54 LRP1B SNP 2 T C 141176527 141176527 Baylor MIA3 375056 hgsc.bcm.edu GRCh37 1 222802459 222802459 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000344922.5:c.1897T>C p.Ser633Pro p.S633P ENST00000344922 NM_198551.2 633 Tcc/Ccc 0 Missense_Mutation T 54 MIA3 SNP 1 T C 220869082 220869082 Baylor MS4A14 84689 hgsc.bcm.edu GRCh37 11 60170525 60170525 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000531783.1:c.459T>C p.Thr153= p.T153= ENST00000531783 NM_001261828.1 153 acT/acC 0 Silent T 54 MS4A14 SNP 11 T C 59927101 59927101 Baylor NOBOX 135935 hgsc.bcm.edu GRCh37 7 144098311 144098311 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000467773.1:c.672C>G p.Asn224Lys p.N224K ENST00000467773 NM_001080413.3 224 aaC/aaG 0 Missense_Mutation G 36 NOBOX SNP 7 G C 143729244 143729244 Baylor PIK3R4 30849 hgsc.bcm.edu GRCh37 3 130422625 130422625 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356763.3:c.3040G>T p.Asp1014Tyr p.D1014Y ENST00000356763 NM_014602.2 1014 Gat/Tat 0 Missense_Mutation C 29 PIK3R4 SNP 3 C A 131905315 131905315 Baylor PLAUR 5329 hgsc.bcm.edu GRCh37 19 44159723 44159723 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000340093.3:c.475C>T p.Arg159Cys p.R159C ENST00000340093 NM_002659.3 159 Cgt/Tgt 0 Missense_Mutation G 38 PLAUR SNP 19 G A 48851563 48851563 Baylor PRDM2 7799 hgsc.bcm.edu GRCh37 1 14106984 14106984 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000235372.7:c.2694C>T p.Gly898= p.G898= ENST00000235372 NM_012231.4 898 ggC/ggT 0 Silent C 25 PRDM2 SNP 1 C T 13979571 13979571 Baylor SMARCB1 6598 hgsc.bcm.edu GRCh37 22 24175875 24175875 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263121.7:c.1103A>G p.Gln368Arg p.Q368R ENST00000263121 NM_003073.3 368 cAg/cGg 0 Missense_Mutation A 7 SMARCB1 SNP 22 A G 22505875 22505875 Baylor SYNE2 23224 hgsc.bcm.edu GRCh37 14 64516480 64516481 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358025.3:c.7532dup p.Leu2511PhefsTer23 p.L2511Ffs*23 ENST00000358025 NM_182914.2 2510 act/acTt 0 Frame_Shift_Ins - 20 SYNE2 INS 14 - T 63586234 63586233 Baylor TIGD6 81789 hgsc.bcm.edu GRCh37 5 149374880 149374880 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000296736.3:c.1032A>G p.Gln344= p.Q344= ENST00000296736 NM_030953.3 344 caA/caG 0 Silent T 56 TIGD6 SNP 5 T C 149355073 149355073 Baylor TMEM131 23505 hgsc.bcm.edu GRCh37 2 98413916 98413916 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000186436.5:c.2782C>T p.Leu928= p.L928= ENST00000186436 NM_015348.1 928 Cta/Tta 0 Silent G 35 TMEM131 SNP 2 G A 97780348 97780348 Baylor TMPRSS11D 9407 hgsc.bcm.edu GRCh37 4 68693234 68693234 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000283916.6:c.697T>A p.Ser233Thr p.S233T ENST00000283916 NM_004262.2 233 Tct/Act 0 Missense_Mutation A 11 TMPRSS11D SNP 4 A T 68375829 68375829 Baylor TMPRSS11F 389208 hgsc.bcm.edu GRCh37 4 68964726 68964726 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356291.2:c.42A>T p.Ser14= p.S14= ENST00000356291 NM_207407.2 14 tcA/tcT 0 Silent T 59 TMPRSS11F SNP 4 T A 68647321 68647321 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578454 7578454 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Biotage_PCR_WGA . . SOLID ENST00000269305.4:c.476C>T p.Ala159Val p.A159V ENST00000269305 NM_001126112.2 159 gCc/gTc 0 Missense_Mutation G 42 TP53 SNP 17 G A 7519179 7519179 Baylor TP53BP1 7158 hgsc.bcm.edu GRCh37 15 43771608 43771608 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000382044.4:c.775C>T p.Pro259Ser p.P259S ENST00000382044 NM_001141980.1 259 Cca/Tca 0 Missense_Mutation G 41 TP53BP1 SNP 15 G A 41558900 41558900 Baylor TRDMT1 1787 hgsc.bcm.edu GRCh37 10 17201224 17201224 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377799.3:c.464G>T p.Gly155Val p.G155V ENST00000377799 NM_004412.5 155 gGc/gTc 0 Missense_Mutation C 26 TRDMT1 SNP 10 C A 17241230 17241230 Baylor TRIM54 57159 hgsc.bcm.edu GRCh37 2 27521534 27521534 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000296098.4:c.268C>T p.His90Tyr p.H90Y ENST00000296098 NM_032546.3 90 Cac/Tac 0 Missense_Mutation C 17 TRIM54 SNP 2 C T 27375038 27375038 Baylor TRRAP 8295 hgsc.bcm.edu GRCh37 7 98576481 98576481 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359863.4:c.8567C>T p.Ala2856Val p.A2856V ENST00000359863 NM_001244580.1 2856 gCc/gTc 0 Missense_Mutation C 26 TRRAP SNP 7 C T 98414417 98414417 Baylor UBR5 51366 hgsc.bcm.edu GRCh37 8 103323725 103323725 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000520539.1:c.2419-1G>A p.X807_splice ENST00000520539 NM_015902.5 0 Splice_Site_SNP C 24 UBR5 SNP 8 C T 103392901 103392901 Baylor USP22 23326 hgsc.bcm.edu GRCh37 17 20914546 20914547 + frameshift_variant Frame_Shift_Del DEL GG GG - novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 GG GG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261497.4:c.1020_1021del p.Leu341GlufsTer47 p.L341Efs*47 ENST00000261497 NM_015276.1 340 ccCCtg/cctg 0 Frame_Shift_Del GG 35 USP22 DEL 17 GG - 20855139 20855138 Baylor USP22 23326 hgsc.bcm.edu GRCh37 17 20914549 20914549 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261497.4:c.1018C>T p.Pro340Ser p.P340S ENST00000261497 NM_015276.1 340 Ccc/Tcc 0 Missense_Mutation G 42 USP22 SNP 17 G A 20855141 20855141 Baylor XPNPEP1 7511 hgsc.bcm.edu GRCh37 10 111630549 111630549 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000502935.1:c.1636G>T p.Gly546Cys p.G546C ENST00000502935 546 Ggc/Tgc 0 Missense_Mutation C 23 XPNPEP1 SNP 10 C A 111620539 111620539 Baylor ZFYVE1 53349 hgsc.bcm.edu GRCh37 14 73442336 73442336 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000556143.1:c.1729G>T p.Gly577Ter p.G577* ENST00000556143 NM_021260.2 577 Gga/Tga 0 Nonsense_Mutation C 21 ZFYVE1 SNP 14 C A 72512089 72512089 Baylor ZNF222 7673 hgsc.bcm.edu GRCh37 19 44536593 44536593 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000391960.3:c.886C>T p.Pro296Ser p.P296S ENST00000391960 NM_001129996.1 296 Cca/Tca 0 Missense_Mutation C 26 ZNF222 SNP 19 C T 49228433 49228433 Baylor ZNF821 55565 hgsc.bcm.edu GRCh37 16 71894523 71894523 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0720-01 TCGA-13-0720-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000425432.1:c.637G>C p.Glu213Gln p.E213Q ENST00000425432 NM_001201552.1 213 Gag/Cag 0 Missense_Mutation C 29 ZNF821 SNP 16 C G 70452024 70452024 Baylor STPG1 90529 broad.mit.edu GRCh37 1 24700197 24700197 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000374409.1:c.566C>T p.Pro189Leu p.P189L ENST00000374409 NM_001199012.1 189 cCc/cTc 0 Missense_Mutation G 43 C1orf201 SNP 1 G A 24572784 24572784 Broad SLC1A7 6512 broad.mit.edu GRCh37 1 53555486 53555486 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000371494.4:c.1347C>G p.Ala449= p.A449= ENST00000371494 NM_006671.4 449 gcC/gcG 0 Silent G 39 SLC1A7 SNP 1 G C 53328074 53328074 Broad S1PR1 1901 broad.mit.edu GRCh37 1 101704672 101704672 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 C A C C Unknown Valid Somatic x x 454_PCR_WGA x ENST00000305352.6:c.132C>A p.Ser44Arg p.S44R ENST00000305352 NM_001400.4 44 agC/agA 0 Missense_Mutation C 25 S1PR1 SNP 1 C A 101477260 101477260 Broad CELSR2 1952 broad.mit.edu GRCh37 1 109793108 109793108 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000271332.3:c.407C>A p.Pro136Gln p.P136Q ENST00000271332 NM_001408.2 136 cCg/cAg 0 Missense_Mutation C 23 CELSR2 SNP 1 C A 109594631 109594631 Broad ADAM30 11085 broad.mit.edu GRCh37 1 120437650 120437650 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000369400.1:c.1310C>G p.Ala437Gly p.A437G ENST00000369400 NM_021794.3 437 gCc/gGc 0 Missense_Mutation G 42 ADAM30 SNP 1 G C 120239173 120239173 Broad C1orf56 54964 broad.mit.edu GRCh37 1 151020416 151020416 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000368926.5:c.93C>G p.Thr31= p.T31= ENST00000368926 NM_017860.3 31 acC/acG 0 Silent C 23 C1orf56 SNP 1 C G 149287040 149287040 Broad FLG2 388698 broad.mit.edu GRCh37 1 152323676 152323676 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000388718.5:c.6586C>A p.His2196Asn p.H2196N ENST00000388718 NM_001014342.2 2196 Cat/Aat 0 Missense_Mutation G 48 FLG2 SNP 1 G T 150590300 150590300 Broad FLAD1 80308 broad.mit.edu GRCh37 1 154962675 154962675 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000292180.3:c.1306A>C p.Ile436Leu p.I436L ENST00000292180 NM_025207.4 436 Atc/Ctc 0 Missense_Mutation A 16 FLAD1 SNP 1 A C 153229299 153229299 Broad FAM189B 10712 broad.mit.edu GRCh37 1 155218027 155218027 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000361361.2:c.1647G>C p.Arg549= p.R549= ENST00000361361 NM_006589.2 549 cgG/cgC 0 Silent C 18 FAM189B SNP 1 C G 153484651 153484651 Broad GON4L 54856 broad.mit.edu GRCh37 1 155735555 155735555 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000437809.1:c.3709G>A p.Asp1237Asn p.D1237N ENST00000437809 1237 Gat/Aat 0 Missense_Mutation C 29 GON4L SNP 1 C T 154002179 154002179 Broad NTRK1 4914 broad.mit.edu GRCh37 1 156849053 156849053 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000524377.1:c.1945C>T p.Arg649Trp p.R649W ENST00000524377 NM_002529.3 649 Cgg/Tgg 0 Missense_Mutation C 23 NTRK1 SNP 1 C T 155115677 155115677 Broad NUAK2 81788 broad.mit.edu GRCh37 1 205273343 205273343 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000367157.3:c.1122C>G p.Leu374= p.L374= ENST00000367157 NM_030952.1 374 ctC/ctG 0 Silent G 45 NUAK2 SNP 1 G C 203539966 203539966 Broad MIA3 375056 broad.mit.edu GRCh37 1 222838886 222838886 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000344922.5:c.5649C>T p.Gly1883= p.G1883= ENST00000344922 NM_198551.2 1883 ggC/ggT 0 Silent C 28 MIA3 SNP 1 C T 220905509 220905509 Broad URB2 9816 broad.mit.edu GRCh37 1 229773223 229773223 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000258243.2:c.2863G>A p.Gly955Arg p.G955R ENST00000258243 NM_014777.2 955 Ggg/Agg 0 Missense_Mutation G 43 URB2 SNP 1 G A 227839846 227839846 Broad LYST 1130 broad.mit.edu GRCh37 1 235972337 235972337 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000389794.3:c.1781C>A p.Pro594His p.P594H ENST00000389794 594 cCt/cAt 0 Missense_Mutation G 35 LYST SNP 1 G T 234038960 234038960 Broad PLD5 200150 broad.mit.edu GRCh37 1 242264042 242264042 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000536534.2:c.1282G>C p.Glu428Gln p.E428Q ENST00000536534 428 Gaa/Caa 0 Missense_Mutation C 32 PLD5 SNP 1 C G 240330665 240330665 Broad OR2T12 127064 broad.mit.edu GRCh37 1 248458438 248458438 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000317996.1:c.443T>A p.Leu148His p.L148H ENST00000317996 NM_001004692.1 148 cTc/cAc 0 Missense_Mutation A 11 OR2T12 SNP 1 A T 246525061 246525061 Broad ZNF25 219749 broad.mit.edu GRCh37 10 38241638 38241638 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000302609.7:c.788G>C p.Cys263Ser p.C263S ENST00000302609 NM_145011.2 263 tGt/tCt 0 Missense_Mutation C 17 ZNF25 SNP 10 C G 38281644 38281644 Broad RET 5979 broad.mit.edu GRCh37 10 43606702 43606702 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000355710.3:c.1311C>T p.Asn437= p.N437= ENST00000355710 NM_020975.4 437 aaC/aaT 0 Silent C 19 RET SNP 10 C T 42926708 42926708 Broad PRKG1 5592 broad.mit.edu GRCh37 10 53822295 53822295 + splice_acceptor_variant Splice_Site SNP A A T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000373980.4:c.841-2A>T p.X281_splice ENST00000373980 NM_006258.3 0 Splice_Site_SNP A 7 PRKG1 SNP 10 A T 53492301 53492301 Broad EGR2 1959 broad.mit.edu GRCh37 10 64573741 64573741 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000242480.3:c.657C>G p.Leu219= p.L219= ENST00000242480 NM_001136177.1 219 ctC/ctG 0 Silent G 33 EGR2 SNP 10 G C 64243747 64243747 Broad MGEA5 10724 broad.mit.edu GRCh37 10 103550654 103550654 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000361464.3:c.2453A>T p.Glu818Val p.E818V ENST00000361464 NM_012215.3 818 gAg/gTg 0 Missense_Mutation T 54 MGEA5 SNP 10 T A 103540644 103540644 Broad DHX32 55760 broad.mit.edu GRCh37 10 127526878 127526878 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000284690.3:c.1960G>T p.Gly654Cys p.G654C ENST00000284690 NM_018180.2 654 Ggt/Tgt 0 Missense_Mutation C 21 DHX32 SNP 10 C A 127516868 127516868 Broad MUC2 4583 broad.mit.edu GRCh37 11 1092891 1092891 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000441003.2:c.4710C>A p.Thr1570= p.T1570= ENST00000441003 NM_002457.2 1570 acC/acA 0 Silent C 22 MUC2 SNP 11 C A 1082891 1082891 Broad PAX6 5080 broad.mit.edu GRCh37 11 31816333 31816333 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000419022.1:c.569G>T p.Gly190Val p.G190V ENST00000419022 NM_001258462.1 190 gGc/gTc 0 Missense_Mutation C 26 PAX6 SNP 11 C A 31772909 31772909 Broad OR5T1 390155 broad.mit.edu GRCh37 11 56044080 56044080 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000313033.2:c.966C>T p.Phe322= p.F322= ENST00000313033 NM_001004745.1 322 ttC/ttT 0 Silent C 29 OR5T1 SNP 11 C T 55800656 55800656 Broad FAM111B 374393 broad.mit.edu GRCh37 11 58893255 58893255 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000343597.3:c.1685G>A p.Trp562Ter p.W562* ENST00000343597 NM_198947.3 562 tGg/tAg 0 Nonsense_Mutation G 47 FAM111B SNP 11 G A 58649831 58649831 Broad MS4A5 64232 broad.mit.edu GRCh37 11 60201280 60201280 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000300190.2:c.382G>A p.Ala128Thr p.A128T ENST00000300190 NM_023945.2 128 Gca/Aca 0 Missense_Mutation G 34 MS4A5 SNP 11 G A 59957856 59957856 Broad GANAB 23193 broad.mit.edu GRCh37 11 62397885 62397885 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000346178.4:c.1545G>C p.Arg515= p.R515= ENST00000346178 NM_198335.3 515 cgG/cgC 0 Silent C 22 GANAB SNP 11 C G 62154461 62154461 Broad LGALS12 85329 broad.mit.edu GRCh37 11 63276301 63276301 + synonymous_variant Silent SNP C C A rs12289952 byHapMap TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000340246.5:c.279C>A p.Ile93= p.I93= ENST00000340246 93 atC/atA 0 Silent C 31 LGALS12 SNP 11 C A 63032877 63032877 Broad CDC42BPG 55561 broad.mit.edu GRCh37 11 64602406 64602406 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000342711.5:c.2090A>G p.Tyr697Cys p.Y697C ENST00000342711 NM_017525.2 697 tAc/tGc 0 Missense_Mutation T 57 CDC42BPG SNP 11 T C 64358982 64358982 Broad SF3B2 10992 broad.mit.edu GRCh37 11 65828098 65828098 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000322535.6:c.1675C>T p.Pro559Ser p.P559S ENST00000322535 NM_006842.2 559 Cct/Tct 0 Missense_Mutation C 26 SF3B2 SNP 11 C T 65584674 65584674 Broad SYTL2 54843 broad.mit.edu GRCh37 11 85445471 85445471 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000316356.4:c.901G>C p.Val301Leu p.V301L ENST00000316356 301 Gtg/Ctg 0 Missense_Mutation C 17 SYTL2 SNP 11 C G 85123119 85123119 Broad DYNC2H1 79659 broad.mit.edu GRCh37 11 103070169 103070169 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000398093.3:c.8052A>G p.Gly2684= p.G2684= ENST00000398093 2684 ggA/ggG 0 Silent A 12 DYNC2H1 SNP 11 A G 102575379 102575379 Broad DCPS 28960 broad.mit.edu GRCh37 11 126215329 126215329 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000263579.4:c.835C>A p.His279Asn p.H279N ENST00000263579 NM_014026.3 279 Cac/Aac 0 Missense_Mutation C 25 DCPS SNP 11 C A 125720539 125720539 Broad NCAPD2 9918 broad.mit.edu GRCh37 12 6635333 6635333 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000315579.5:c.2448C>T p.Cys816= p.C816= ENST00000315579 NM_014865.3 816 tgC/tgT 0 Silent C 26 NCAPD2 SNP 12 C T 6505594 6505594 Broad APOLD1 81575 broad.mit.edu GRCh37 12 12940262 12940262 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000326765.6:c.516C>G p.Phe172Leu p.F172L ENST00000326765 NM_001130415.1 172 ttC/ttG 0 Missense_Mutation C 32 APOLD1 SNP 12 C G 12831529 12831529 Broad PIK3C2G 5288 broad.mit.edu GRCh37 12 18658246 18658246 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000266497.5:c.3051C>T p.Tyr1017= p.Y1017= ENST00000266497 1017 taC/taT 0 Silent C 20 PIK3C2G SNP 12 C T 18549513 18549513 Broad IRAK4 51135 broad.mit.edu GRCh37 12 44162071 44162071 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000448290.2:c.157A>G p.Ile53Val p.I53V ENST00000448290 NM_016123.3 53 Ata/Gta 0 Missense_Mutation A 8 IRAK4 SNP 12 A G 42448338 42448338 Broad HECTD4 283450 broad.mit.edu GRCh37 12 112605647 112605647 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000550722.1:c.11845T>G p.Cys3949Gly p.C3949G ENST00000550722 NM_001109662.3 3949 Tgc/Ggc 0 Missense_Mutation A 6 C12orf51 SNP 12 A C 111090030 111090030 Broad TBX5 6910 broad.mit.edu GRCh37 12 114793771 114793771 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000310346.4:c.1123C>T p.Arg375Trp p.R375W ENST00000310346 NM_000192.3 375 Cgg/Tgg 0 Missense_Mutation G 38 TBX5 SNP 12 G A 113278154 113278154 Broad CIT 11113 broad.mit.edu GRCh37 12 120135607 120135607 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000392521.2:c.5739G>A p.Pro1913= p.P1913= ENST00000392521 NM_001206999.1 1913 ccG/ccA 0 Silent C 27 CIT SNP 12 C T 118619990 118619990 Broad UBAC2 337867 broad.mit.edu GRCh37 13 99966370 99966370 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000403766.3:c.409C>G p.Leu137Val p.L137V ENST00000403766 NM_001144072.1 137 Ctg/Gtg 0 Missense_Mutation C 32 UBAC2 SNP 13 C G 98764371 98764371 Broad G2E3 55632 broad.mit.edu GRCh37 14 31081515 31081515 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000206595.6:c.1603G>A p.Asp535Asn p.D535N ENST00000206595 NM_017769.3 535 Gat/Aat 0 Missense_Mutation G 45 G2E3 SNP 14 G A 30151266 30151266 Broad ITPK1 3705 broad.mit.edu GRCh37 14 93424548 93424548 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000267615.6:c.668C>T p.Ser223Leu p.S223L ENST00000267615 223 tCa/tTa 0 Missense_Mutation G 45 ITPK1 SNP 14 G A 92494301 92494301 Broad EVL 51466 broad.mit.edu GRCh37 14 100603941 100603941 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000392920.3:c.991A>T p.Ser331Cys p.S331C ENST00000392920 NM_016337.2 331 Agc/Tgc 0 Missense_Mutation A 11 EVL SNP 14 A T 99673694 99673694 Broad PLA2G4F 255189 broad.mit.edu GRCh37 15 42442046 42442046 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000382396.4:c.924C>A p.Ser308Arg p.S308R ENST00000382396 308 agC/agA 0 Missense_Mutation G 34 PLA2G4F SNP 15 G T 40229338 40229338 Broad FOXB1 27023 broad.mit.edu GRCh37 15 60297676 60297676 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000396057.4:c.514A>T p.Ile172Phe p.I172F ENST00000396057 NM_012182.2 172 Atc/Ttc 0 Missense_Mutation A 8 FOXB1 SNP 15 A T 58084968 58084968 Broad UBE2Q2 92912 broad.mit.edu GRCh37 15 76191783 76191783 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000267938.4:c.1112C>G p.Pro371Arg p.P371R ENST00000267938 NM_173469.2 371 cCa/cGa 0 Missense_Mutation C 21 UBE2Q2 SNP 15 C G 73978838 73978838 Broad UNC45A 55898 broad.mit.edu GRCh37 15 91492645 91492645 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000418476.2:c.1978A>G p.Thr660Ala p.T660A ENST00000418476 NM_018671.3 660 Acc/Gcc 0 Missense_Mutation A 10 UNC45A SNP 15 A G 89293649 89293649 Broad KIFC3 3801 broad.mit.edu GRCh37 16 57799531 57799531 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000379655.4:c.1352G>A p.Arg451His p.R451H ENST00000379655 NM_005550.3 451 cGt/cAt 0 Missense_Mutation C 19 KIFC3 SNP 16 C T 56357032 56357032 Broad PLEKHG4 25894 broad.mit.edu GRCh37 16 67313979 67313979 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000360461.5:c.32C>T p.Ser11Phe p.S11F ENST00000360461 NM_001129727.1 11 tCc/tTc 0 Missense_Mutation C 30 PLEKHG4 SNP 16 C T 65871480 65871480 Broad ZFP1 162239 broad.mit.edu GRCh37 16 75203858 75203858 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000393430.2:c.850A>T p.Thr284Ser p.T284S ENST00000393430 284 Acc/Tcc 0 Missense_Mutation A 6 ZFP1 SNP 16 A T 73761359 73761359 Broad TP53 7157 broad.mit.edu GRCh37 17 7578496 7578496 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.434T>G p.Leu145Arg p.L145R ENST00000269305 NM_001126112.2 145 cTg/cGg 0 Missense_Mutation A 7 TP53 SNP 17 A C 7519221 7519221 Broad GLP2R 9340 broad.mit.edu GRCh37 17 9791266 9791266 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000262441.5:c.1302G>A p.Leu434= p.L434= ENST00000262441 NM_004246.1 434 ttG/ttA 0 Silent G 46 GLP2R SNP 17 G A 9731991 9731991 Broad KIAA0100 9703 broad.mit.edu GRCh37 17 26962195 26962195 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000528896.2:c.2410A>T p.Asn804Tyr p.N804Y ENST00000528896 NM_014680.3 804 Aac/Tac 0 Missense_Mutation T 62 KIAA0100 SNP 17 T A 23986322 23986322 Broad ITGB3 3690 broad.mit.edu GRCh37 17 45369774 45369774 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000559488.1:c.1530C>T p.Asp510= p.D510= ENST00000559488 NM_000212.2 510 gaC/gaT 0 Silent C 19 ITGB3 SNP 17 C T 42724773 42724773 Broad BZRAP1 9256 broad.mit.edu GRCh37 17 56382958 56382958 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000343736.4:c.5304C>G p.Ser1768= p.S1768= ENST00000343736 1768 tcC/tcG 0 Silent G 47 BZRAP1 SNP 17 G C 53737957 53737957 Broad EPB41L3 23136 broad.mit.edu GRCh37 18 5406870 5406870 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 G A G G Unknown Valid Somatic x x 454_PCR_WGA x ENST00000341928.2:c.2255C>T p.Thr752Met p.T752M ENST00000341928 NM_012307.3 752 aCg/aTg 0 Missense_Mutation G 40 EPB41L3 SNP 18 G A 5396870 5396870 Broad TRAPPC8 22878 broad.mit.edu GRCh37 18 29435655 29435655 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000283351.4:c.3304C>G p.Leu1102Val p.L1102V ENST00000283351 NM_014939.3 1102 Cta/Gta 0 Missense_Mutation G 34 TRAPPC8 SNP 18 G C 27689653 27689653 Broad SOCS6 9306 broad.mit.edu GRCh37 18 67992323 67992323 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000397942.3:c.419G>A p.Arg140Gln p.R140Q ENST00000397942 NM_004232.3 140 cGg/cAg 0 Missense_Mutation G 39 SOCS6 SNP 18 G A 66143303 66143303 Broad REEP6 92840 broad.mit.edu GRCh37 19 1496361 1496361 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000233596.3:c.426G>T p.Pro142= p.P142= ENST00000233596 NM_138393.1 142 ccG/ccT 0 Silent G 38 REEP6 SNP 19 G T 1447361 1447361 Broad MAP2K2 5605 broad.mit.edu GRCh37 19 4117604 4117604 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000262948.5:c.116A>T p.Lys39Met p.K39M ENST00000262948 NM_030662.3 39 aAg/aTg 0 Missense_Mutation T 56 MAP2K2 SNP 19 T A 4068604 4068604 Broad DOCK6 57572 broad.mit.edu GRCh37 19 11311116 11311116 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000294618.7:c.5969C>A p.Ala1990Asp p.A1990D ENST00000294618 NM_020812.3 1990 gCc/gAc 0 Missense_Mutation G 42 DOCK6 SNP 19 G T 11172116 11172116 Broad ASF1B 55723 broad.mit.edu GRCh37 19 14232358 14232358 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000263382.3:c.388C>T p.Pro130Ser p.P130S ENST00000263382 NM_018154.2 130 Cca/Tca 0 Missense_Mutation G 42 ASF1B SNP 19 G A 14093358 14093358 Broad COPE 11316 broad.mit.edu GRCh37 19 19030111 19030111 + missense_variant Missense_Mutation SNP A A C rs11537888 Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000262812.4:c.47T>G p.Val16Gly p.V16G ENST00000262812 NM_007263.3 16 gTa/gGa 0 Missense_Mutation A 14 COPE SNP 19 A C 18891111 18891111 Broad HPN 3249 broad.mit.edu GRCh37 19 35556531 35556531 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000262626.2:c.996C>G p.Ile332Met p.I332M ENST00000262626 NM_182983.2 332 atC/atG 0 Missense_Mutation C 29 HPN SNP 19 C G 40248371 40248371 Broad THAP8 199745 broad.mit.edu GRCh37 19 36530356 36530356 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000292894.1:c.541C>A p.Gln181Lys p.Q181K ENST00000292894 NM_152658.2 181 Caa/Aaa 0 Missense_Mutation G 46 THAP8 SNP 19 G T 41222196 41222196 Broad SPTBN4 57731 broad.mit.edu GRCh37 19 41003432 41003432 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000352632.3:c.705C>T p.Ser235= p.S235= ENST00000352632 235 tcC/tcT 0 Silent C 21 SPTBN4 SNP 19 C T 45695272 45695272 Broad SCAF1 58506 broad.mit.edu GRCh37 19 50154326 50154326 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000360565.3:c.680T>A p.Ile227Asn p.I227N ENST00000360565 NM_021228.2 227 aTc/aAc 0 Missense_Mutation T 50 SCAF1 SNP 19 T A 54846138 54846138 Broad FPR3 2359 broad.mit.edu GRCh37 19 52327504 52327504 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000339223.4:c.503G>T p.Ser168Ile p.S168I ENST00000339223 NM_002030.3 168 aGt/aTt 0 Missense_Mutation G 36 FPR3 SNP 19 G T 57019316 57019316 Broad ZNF132 7691 broad.mit.edu GRCh37 19 58944786 58944786 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000254166.3:c.2025A>C p.Lys675Asn p.K675N ENST00000254166 NM_003433.3 675 aaA/aaC 0 Missense_Mutation T 56 ZNF132 SNP 19 T G 63636598 63636598 Broad VSNL1 7447 broad.mit.edu GRCh37 2 17773383 17773383 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000406397.1:c.42G>T p.Glu14Asp p.E14D ENST00000406397 14 gaG/gaT 0 Missense_Mutation G 35 VSNL1 SNP 2 G T 17636864 17636864 Broad LAPTM4A 9741 broad.mit.edu GRCh37 2 20240751 20240751 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000175091.4:c.133A>C p.Ile45Leu p.I45L ENST00000175091 NM_014713.4 45 Att/Ctt 0 Missense_Mutation T 52 LAPTM4A SNP 2 T G 20104232 20104232 Broad DPYSL5 56896 broad.mit.edu GRCh37 2 27150301 27150301 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000288699.6:c.600+1G>A p.X200_splice ENST00000288699 NM_001253724.1 0 Splice_Site_SNP G 42 DPYSL5 SNP 2 G A 27003805 27003805 Broad ALK 238 broad.mit.edu GRCh37 2 29446231 29446231 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000389048.3:c.3336G>A p.Pro1112= p.P1112= ENST00000389048 NM_004304.4 1112 ccG/ccA 0 Silent C 27 ALK SNP 2 C T 29299735 29299735 Broad USP34 9736 broad.mit.edu GRCh37 2 61538678 61538678 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000398571.2:c.3814C>T p.Pro1272Ser p.P1272S ENST00000398571 NM_014709.3 1272 Cct/Tct 0 Missense_Mutation G 41 USP34 SNP 2 G A 61392182 61392182 Broad ADRA2B 151 broad.mit.edu GRCh37 2 96781407 96781407 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000409345.3:c.482G>A p.Arg161His p.R161H ENST00000409345 NM_000682.5 161 cGc/cAc 0 Missense_Mutation C 27 ADRA2B SNP 2 C T 96145134 96145134 Broad CSRNP3 80034 broad.mit.edu GRCh37 2 166514412 166514412 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000314499.7:c.290G>A p.Arg97His p.R97H ENST00000314499 NM_001172173.1 97 cGc/cAc 0 Missense_Mutation G 38 CSRNP3 SNP 2 G A 166222658 166222658 Broad TTN 7273 broad.mit.edu GRCh37 2 179497497 179497497 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.43236A>G p.Thr14412= p.T14412= ENST00000589042 NM_001267550.1 14412 acA/acG 0 Silent T 59 TTN SNP 2 T C 179205742 179205742 Broad TTN 7273 broad.mit.edu GRCh37 2 179612538 179612538 + intron_variant Intron SNP A A T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000589042.1:c.11311+5313T>A *3771* ENST00000589042 NM_001267550.1 0 Silent A 9 TTN SNP 2 A T 179320783 179320783 Broad NBEAL1 65065 broad.mit.edu GRCh37 2 204000786 204000786 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000449802.1:c.4113G>C p.Leu1371Phe p.L1371F ENST00000449802 NM_001114132.1 1371 ttG/ttC 0 Missense_Mutation G 45 NBEAL1 SNP 2 G C 203709031 203709031 Broad KANSL1L 151050 broad.mit.edu GRCh37 2 210893680 210893680 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000281772.9:c.2285G>A p.Arg762Gln p.R762Q ENST00000281772 NM_152519.2 762 cGg/cAg 0 Missense_Mutation C 23 C2orf67 SNP 2 C T 210601925 210601925 Broad PROKR2 128674 broad.mit.edu GRCh37 20 5294763 5294763 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000546004.1:c.253C>T p.Arg85Cys p.R85C ENST00000546004 85 Cgc/Tgc 0 Missense_Mutation G 38 PROKR2 SNP 20 G A 5242763 5242763 Broad PLCB1 23236 broad.mit.edu GRCh37 20 8705336 8705336 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000338037.6:c.1615G>A p.Glu539Lys p.E539K ENST00000338037 NM_015192.3 539 Gaa/Aaa 0 Missense_Mutation G 33 PLCB1 SNP 20 G A 8653336 8653336 Broad ZGPAT 84619 broad.mit.edu GRCh37 20 62340007 62340007 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000328969.5:c.75C>A p.Gly25= p.G25= ENST00000328969 NM_032527.4 25 ggC/ggA 0 Silent C 27 ZGPAT SNP 20 C A 61810451 61810451 Broad TMPRSS15 5651 broad.mit.edu GRCh37 21 19725330 19725330 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000284885.3:c.1061G>T p.Cys354Phe p.C354F ENST00000284885 NM_002772.2 354 tGt/tTt 0 Missense_Mutation C 17 TMPRSS15 SNP 21 C A 18647201 18647201 Broad MORC3 23515 broad.mit.edu GRCh37 21 37736535 37736535 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000400485.1:c.1597C>G p.Gln533Glu p.Q533E ENST00000400485 NM_015358.2 533 Cag/Gag 0 Missense_Mutation C 29 MORC3 SNP 21 C G 36658405 36658405 Broad CRYAA 1409 broad.mit.edu GRCh37 21 44589381 44589381 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000291554.2:c.172G>C p.Asp58His p.D58H ENST00000291554 NM_000394.2 58 Gac/Cac 0 Missense_Mutation G 41 CRYAA SNP 21 G C 43462450 43462450 Broad GAB4 128954 broad.mit.edu GRCh37 22 17445730 17445730 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000400588.1:c.1402T>A p.Ser468Thr p.S468T ENST00000400588 NM_001037814.1 468 Tcc/Acc 0 Missense_Mutation A 11 GAB4 SNP 22 A T 15825730 15825730 Broad PI4KA 5297 broad.mit.edu GRCh37 22 21082084 21082084 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000255882.6:c.4751G>A p.Ser1584Asn p.S1584N ENST00000255882 NM_058004.3 1584 aGt/aAt 0 Missense_Mutation C 20 PI4KA SNP 22 C T 19412084 19412084 Broad RAB36 9609 broad.mit.edu GRCh37 22 23492252 23492252 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000263116.2:c.270G>A p.Trp90Ter p.W90* ENST00000263116 NM_004914.2 90 tgG/tgA 0 Nonsense_Mutation G 44 RAB36 SNP 22 G A 21822252 21822252 Broad GRAMD1C 54762 broad.mit.edu GRCh37 3 113634568 113634568 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000358160.4:c.973C>G p.Leu325Val p.L325V ENST00000358160 NM_017577.4 325 Ctt/Gtt 0 Missense_Mutation C 32 GRAMD1C SNP 3 C G 115117258 115117258 Broad ARHGAP31 57514 broad.mit.edu GRCh37 3 119112360 119112360 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000264245.4:c.928C>T p.Leu310= p.L310= ENST00000264245 NM_020754.2 310 Ctg/Ttg 0 Silent C 24 ARHGAP31 SNP 3 C T 120595050 120595050 Broad MAATS1 89876 broad.mit.edu GRCh37 3 119434528 119434528 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000273390.5:c.620C>T p.Ala207Val p.A207V ENST00000273390 NM_033364.3 207 gCa/gTa 0 Missense_Mutation C 25 C3orf15 SNP 3 C T 120917218 120917218 Broad CASR 846 broad.mit.edu GRCh37 3 122002834 122002834 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000498619.1:c.2063G>A p.Arg688His p.R688H ENST00000498619 NM_001178065.1 688 cGc/cAc 0 Missense_Mutation G 38 CASR SNP 3 G A 123485524 123485524 Broad MCM2 4171 broad.mit.edu GRCh37 3 127325076 127325076 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265056.7:c.789C>A p.Ala263= p.A263= ENST00000265056 NM_004526.3 263 gcC/gcA 0 Silent C 22 MCM2 SNP 3 C A 128807766 128807766 Broad AMOTL2 51421 broad.mit.edu GRCh37 3 134090055 134090055 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000249883.5:c.221C>A p.Pro74His p.P74H ENST00000249883 NM_016201.3 74 cCc/cAc 0 Missense_Mutation G 43 AMOTL2 SNP 3 G T 135572745 135572745 Broad SLC9A9 285195 broad.mit.edu GRCh37 3 142985717 142985717 + missense_variant Missense_Mutation SNP T T G rs2289491 byCluster;byFrequency;bySubmitter;byHapMap TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000316549.6:c.1765A>C p.Ile589Leu p.I589L ENST00000316549 NM_173653.3 589 Ata/Cta 0 Missense_Mutation T 51 SLC9A9 SNP 3 T G 144468407 144468407 Broad MUC4 4585 broad.mit.edu GRCh37 3 195491901 195491901 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000463781.3:c.13891G>T p.Glu4631Ter p.E4631* ENST00000463781 NM_018406.6 4631 Gaa/Taa 0 Nonsense_Mutation C 29 MUC4 SNP 3 C A 196977572 196977572 Broad TADA2B 93624 broad.mit.edu GRCh37 4 7056389 7056390 + missense_variant Missense_Mutation DNP CT CT AG novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000310074.7:c.871_872inv p.Leu291Arg p.L291R ENST00000310074 NM_152293.2 291 CTg/AGg 0 Missense_Mutation CT 20 TADA2B DNP 4 CT AG 7107291 7107290 Broad COL25A1 84570 broad.mit.edu GRCh37 4 109784537 109784537 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000399132.1:c.1090C>T p.Arg364Trp p.R364W ENST00000399132 NM_198721.2 364 Cgg/Tgg 0 Missense_Mutation G 40 COL25A1 SNP 4 G A 110003986 110003986 Broad ADAMTS12 81792 broad.mit.edu GRCh37 5 33643573 33643573 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000504830.1:c.1482C>G p.Asn494Lys p.N494K ENST00000504830 NM_030955.2 494 aaC/aaG 0 Missense_Mutation G 40 ADAMTS12 SNP 5 G C 33679330 33679330 Broad PCDHB2 56133 broad.mit.edu GRCh37 5 140474407 140474407 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000194155.4:c.33G>T p.Pro11= p.P11= ENST00000194155 NM_018936.2 11 ccG/ccT 0 Silent G 37 PCDHB2 SNP 5 G T 140454591 140454591 Broad FAT2 2196 broad.mit.edu GRCh37 5 150920314 150920314 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000261800.5:c.8853C>A p.Pro2951= p.P2951= ENST00000261800 NM_001447.2 2951 ccC/ccA 0 Silent G 43 FAT2 SNP 5 G T 150900507 150900507 Broad SH3PXD2B 285590 broad.mit.edu GRCh37 5 171766097 171766097 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000311601.5:c.2012G>C p.Arg671Thr p.R671T ENST00000311601 NM_001017995.2 671 aGg/aCg 0 Missense_Mutation C 24 SH3PXD2B SNP 5 C G 171698702 171698702 Broad HIST1H3C 8352 broad.mit.edu GRCh37 6 26045645 26045645 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000540144.1:c.7C>G p.Arg3Gly p.R3G ENST00000540144 NM_003531.2 3 Cgt/Ggt 0 Missense_Mutation C 31 HIST1H3C SNP 6 C G 26153624 26153624 Broad HIST1H1C 3006 broad.mit.edu GRCh37 6 26056330 26056330 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000343677.2:c.327G>C p.Lys109Asn p.K109N ENST00000343677 NM_005319.3 109 aaG/aaC 0 Missense_Mutation C 32 HIST1H1C SNP 6 C G 26164309 26164309 Broad ZKSCAN4 387032 broad.mit.edu GRCh37 6 28212964 28212964 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000377294.2:c.1568G>C p.Gly523Ala p.G523A ENST00000377294 NM_019110.3 523 gGt/gCt 0 Missense_Mutation C 18 ZKSCAN4 SNP 6 C G 28320943 28320943 Broad MRPS18B 28973 broad.mit.edu GRCh37 6 30590648 30590648 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000259873.4:c.394G>T p.Gly132Cys p.G132C ENST00000259873 NM_014046.3 132 Ggt/Tgt 0 Missense_Mutation G 43 MRPS18B SNP 6 G T 30698627 30698627 Broad C6orf48 50854 broad.mit.edu GRCh37 6 31805183 31805183 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000375640.3:c.78G>C p.Glu26Asp p.E26D ENST00000375640 NM_001040438.1 26 gaG/gaC 0 Missense_Mutation G 33 C6orf48 SNP 6 G C 31913162 31913162 Broad TCTE1 202500 broad.mit.edu GRCh37 6 44254122 44254122 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000371505.4:c.425G>A p.Cys142Tyr p.C142Y ENST00000371505 NM_182539.3 142 tGc/tAc 0 Missense_Mutation C 25 TCTE1 SNP 6 C T 44362100 44362100 Broad GPR110 266977 broad.mit.edu GRCh37 6 46978027 46978027 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000371253.2:c.1144C>T p.Leu382Phe p.L382F ENST00000371253 NM_153840.2 382 Ctt/Ttt 0 Missense_Mutation G 35 GPR110 SNP 6 G A 47085986 47085986 Broad TINAG 27283 broad.mit.edu GRCh37 6 54212311 54212311 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000259782.4:c.895C>T p.Arg299Cys p.R299C ENST00000259782 NM_014464.3 299 Cgt/Tgt 0 Missense_Mutation C 19 TINAG SNP 6 C T 54320270 54320270 Broad ZNF292 23036 broad.mit.edu GRCh37 6 87967138 87967138 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000369577.3:c.3791C>T p.Pro1264Leu p.P1264L ENST00000369577 NM_015021.1 1264 cCt/cTt 0 Missense_Mutation C 24 ZNF292 SNP 6 C T 88023857 88023857 Broad MDN1 23195 broad.mit.edu GRCh37 6 90385899 90385899 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000369393.3:c.12567G>C p.Trp4189Cys p.W4189C ENST00000369393 4189 tgG/tgC 0 Missense_Mutation C 22 MDN1 SNP 6 C G 90442620 90442620 Broad TNRC18 84629 broad.mit.edu GRCh37 7 5416592 5416592 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000430969.1:c.2494G>A p.Ala832Thr p.A832T ENST00000430969 NM_001080495.2 832 Gcc/Acc 0 Missense_Mutation C 26 TNRC18B SNP 7 C T 5383118 5383118 Broad RSPH10B 222967 broad.mit.edu GRCh37 7 5983064 5983064 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000405415.1:c.1649T>G p.Met550Arg p.M550R ENST00000405415 550 aTg/aGg 0 Missense_Mutation A 8 RSPH10B SNP 7 A C 5949590 5949590 Broad OGDH 4967 broad.mit.edu GRCh37 7 44736129 44736129 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000222673.5:c.1873C>T p.Pro625Ser p.P625S ENST00000222673 NM_002541.3 625 Cct/Tct 0 Missense_Mutation C 26 OGDH SNP 7 C T 44702654 44702654 Broad ADAM22 53616 broad.mit.edu GRCh37 7 87760739 87760739 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265727.7:c.981T>C p.Val327= p.V327= ENST00000265727 327 gtT/gtC 0 Silent T 62 ADAM22 SNP 7 T C 87598675 87598675 Broad MOSPD3 64598 broad.mit.edu GRCh37 7 100212803 100212803 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000393950.2:c.705C>G p.Thr235= p.T235= ENST00000393950 NM_023948.4 235 acC/acG 0 Silent C 24 MOSPD3 SNP 7 C G 100050739 100050739 Broad ZAN 7455 broad.mit.edu GRCh37 7 100377117 100377117 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000546292.1:c.6364G>T p.Glu2122Ter p.E2122* ENST00000546292 NM_173059.1 2122 Gag/Tag 0 Nonsense_Mutation G 41 ZAN SNP 7 G T 100215053 100215053 Broad MGAM 8972 broad.mit.edu GRCh37 7 141722199 141722199 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000549489.2:c.842A>G p.Lys281Arg p.K281R ENST00000549489 NM_004668.2 281 aAg/aGg 0 Missense_Mutation A 3 MGAM SNP 7 A G 141368668 141368668 Broad KRBA1 84626 broad.mit.edu GRCh37 7 149418594 149418594 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000255992.10:c.434G>C p.Gly145Ala p.G145A ENST00000255992 NM_032534.2 145 gGt/gCt 0 Missense_Mutation G 44 KRBA1 SNP 7 G C 149049527 149049527 Broad BIN3 55909 broad.mit.edu GRCh37 8 22481787 22481787 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000276416.6:c.428A>G p.Glu143Gly p.E143G ENST00000276416 NM_018688.4 143 gAg/gGg 0 Missense_Mutation T 54 BIN3 SNP 8 T C 22537732 22537732 Broad PURG 29942 broad.mit.edu GRCh37 8 30889494 30889494 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000475541.1:c.805G>C p.Val269Leu p.V269L ENST00000475541 NM_013357.2 269 Gtg/Ctg 0 Missense_Mutation C 20 PURG SNP 8 C G 31009036 31009036 Broad SNTG1 54212 broad.mit.edu GRCh37 8 51449245 51449245 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000522124.1:c.557T>A p.Leu186Ter p.L186* ENST00000522124 NM_018967.2 186 tTa/tAa 0 Nonsense_Mutation T 61 SNTG1 SNP 8 T A 51611798 51611798 Broad RGS20 8601 broad.mit.edu GRCh37 8 54871009 54871009 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000297313.3:c.1158T>C p.Ile386= p.I386= ENST00000297313 NM_170587.2 386 atT/atC 0 Silent T 63 RGS20 SNP 8 T C 55033562 55033562 Broad PRDM14 63978 broad.mit.edu GRCh37 8 70978671 70978671 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000276594.2:c.982G>A p.Val328Ile p.V328I ENST00000276594 NM_024504.3 328 Gtc/Atc 0 Missense_Mutation C 17 PRDM14 SNP 8 C T 71141225 71141225 Broad KCNB2 9312 broad.mit.edu GRCh37 8 73849162 73849162 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000523207.1:c.1572G>T p.Leu524= p.L524= ENST00000523207 NM_004770.2 524 ctG/ctT 0 Silent G 45 KCNB2 SNP 8 G T 74011716 74011716 Broad RGS22 26166 broad.mit.edu GRCh37 8 101075775 101075775 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000360863.6:c.1221T>A p.Tyr407Ter p.Y407* ENST00000360863 NM_015668.3 407 taT/taA 0 Nonsense_Mutation A 8 RGS22 SNP 8 A T 101144951 101144951 Broad DMRT3 58524 broad.mit.edu GRCh37 9 990347 990347 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000190165.2:c.761T>A p.Val254Glu p.V254E ENST00000190165 NM_021240.3 254 gTg/gAg 0 Missense_Mutation T 59 DMRT3 SNP 9 T A 980347 980347 Broad ARID3C 138715 broad.mit.edu GRCh37 9 34622527 34622527 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000378909.2:c.866-1G>C p.X289_splice ENST00000378909 NM_001017363.1 0 Splice_Site_SNP C 32 ARID3C SNP 9 C G 34612527 34612527 Broad CA9 768 broad.mit.edu GRCh37 9 35679329 35679329 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000378357.4:c.1055G>T p.Ser352Ile p.S352I ENST00000378357 NM_001216.2 352 aGt/aTt 0 Missense_Mutation G 36 CA9 SNP 9 G T 35669329 35669329 Broad FRMPD1 22844 broad.mit.edu GRCh37 9 37732367 37732367 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000539465.1:c.925G>C p.Ala309Pro p.A309P ENST00000539465 309 Gcg/Ccg 0 Missense_Mutation G 38 FRMPD1 SNP 9 G C 37722367 37722367 Broad PRUNE2 158471 broad.mit.edu GRCh37 9 79324813 79324813 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000376718.3:c.2377G>A p.Ala793Thr p.A793T ENST00000376718 NM_015225.2 793 Gct/Act 0 Missense_Mutation C 28 PRUNE2 SNP 9 C T 78514633 78514633 Broad AAED1 195827 broad.mit.edu GRCh37 9 99413940 99413940 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000375234.3:c.315+1G>T p.X105_splice ENST00000375234 NM_153698.1 0 Splice_Site_SNP C 18 C9orf21 SNP 9 C A 98453761 98453761 Broad SVEP1 79987 broad.mit.edu GRCh37 9 113276232 113276232 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000401783.2:c.1119T>G p.Cys373Trp p.C373W ENST00000401783 NM_153366.3 373 tgT/tgG 0 Missense_Mutation A 6 SVEP1 SNP 9 A C 112316053 112316053 Broad PAPPA 5069 broad.mit.edu GRCh37 9 119139876 119139876 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000328252.3:c.4627C>G p.Leu1543Val p.L1543V ENST00000328252 NM_002581.3 1543 Ctc/Gtc 0 Missense_Mutation C 32 PAPPA SNP 9 C G 118179697 118179697 Broad PPP6C 5537 broad.mit.edu GRCh37 9 127916197 127916197 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000373547.4:c.447C>T p.Leu149= p.L149= ENST00000373547 NM_002721.4 149 ctC/ctT 0 Silent G 45 PPP6C SNP 9 G A 126956018 126956018 Broad FAM102A 399665 broad.mit.edu GRCh37 9 130710368 130710369 + missense_variant Missense_Mutation DNP GC GC AG novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000373095.1:c.597_598delinsCT p.Pro200Ser p.P200S ENST00000373095 NM_001035254.2 199 cgGCcc/cgCTcc 0 Missense_Mutation GC 42 FAM102A DNP 9 GC AG 129750190 129750189 Broad SLC27A4 10999 broad.mit.edu GRCh37 9 131122757 131122757 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000300456.4:c.1919A>G p.Glu640Gly p.E640G ENST00000300456 NM_005094.3 640 gAg/gGg 0 Missense_Mutation A 11 SLC27A4 SNP 9 A G 130162578 130162578 Broad C9orf116 138162 broad.mit.edu GRCh37 9 138387437 138387437 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000429260.2:c.247A>G p.Lys83Glu p.K83E ENST00000429260 NM_001048265.1 83 Aaa/Gaa 0 Missense_Mutation T 61 C9orf116 SNP 9 T C 137527258 137527258 Broad EGFL7 51162 broad.mit.edu GRCh37 9 139566726 139566726 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000308874.7:c.810G>A p.Lys270= p.K270= ENST00000308874 270 aaG/aaA 0 Silent G 33 EGFL7 SNP 9 G A 138686547 138686547 Broad TUBB4B 10383 broad.mit.edu GRCh37 9 140137721 140137721 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000340384.4:c.1051A>T p.Thr351Ser p.T351S ENST00000340384 NM_006088.5 351 Acg/Tcg 0 Missense_Mutation A 2 TUBB2C SNP 9 A T 139257542 139257542 Broad APOOL 139322 broad.mit.edu GRCh37 X 84310894 84310894 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000373173.2:c.357A>G p.Thr119= p.T119= ENST00000373173 NM_198450.5 119 acA/acG 0 Silent A 7 APOOL SNP 23 A G 84197550 84197550 Broad MORC4 79710 broad.mit.edu GRCh37 X 106229431 106229431 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000355610.4:c.309-1G>A p.X103_splice ENST00000355610 NM_001085354.2 0 Splice_Site_SNP C 28 MORC4 SNP 23 C T 106116087 106116087 Broad PAK3 5063 broad.mit.edu GRCh37 X 110459766 110459766 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000360648.4:c.1633T>C p.Ser545Pro p.S545P ENST00000360648 NM_001128168.1 545 Tct/Cct 0 Missense_Mutation T 50 PAK3 SNP 23 T C 110346422 110346422 Broad TKTL1 8277 broad.mit.edu GRCh37 X 153549204 153549204 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown x x x ENST00000369915.3:c.1130G>C p.Gly377Ala p.G377A ENST00000369915 NM_012253.3 377 gGa/gCa 0 Missense_Mutation G 41 TKTL1 SNP 23 G C 153202398 153202398 Broad F8 2157 broad.mit.edu GRCh37 X 154227760 154227760 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000360256.4:c.259T>A p.Trp87Arg p.W87R ENST00000360256 NM_000132.3 87 Tgg/Agg 0 Missense_Mutation A 7 F8 SNP 23 A T 153880954 153880954 Broad CD163L1 283316 broad.mit.edu GRCh37 12 7527226 7527245 + frameshift_variant Frame_Shift_Del DEL CACACCACGTGGGCATCGCT CACACCACGTGGGCATCGCT - novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000313599.3:c.3202_3221del p.Asp1069LysfsTer27 p.D1069Kfs*27 ENST00000313599 1068 AGCGATGCCCACGTGGTGTGt/t 0 Frame_Shift_Del CACACCACGTGGGCATCGCT 17 CD163L1 DEL 12 - CACACCACGTGGGCATCGCT 7418512 7418493 Broad MPRIP 23164 broad.mit.edu GRCh37 17 17062029 17062061 + inframe_deletion In_Frame_Del DEL CGGAGGCGGGAGGAGCGCCGCAAGCGCTTCGGG CGGAGGCGGGAGGAGCGCCGCAAGCGCTTCGGG - novel Unknown TCGA-25-1313-01 TCGA-25-1313-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000395811.5:c.1759_1791del p.Arg587_Gly597del p.R587_G597del ENST00000395811 NM_015134.3 587 CGGAGGCGGGAGGAGCGCCGCAAGCGCTTCGGG/- 0 In_Frame_Del CGGAGGCGGGAGGAGCGCCGCAAGCGCTTCGGG 19 MPRIP DEL 17 - CGGAGGCGGGAGGAGCGCCGCAAGCGCTTCGGG 17002786 17002754 Broad ERC1 23085 genome.wustl.edu GRCh37 12 1346062 1346062 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397203.2:c.2479C>T p.Gln827Ter p.Q827* ENST00000397203 827 Cag/Tag 0 Nonsense_Mutation C 25 ERC1 SNP 12 C T 1216323 1216323 WashU HTT 3064 genome.wustl.edu GRCh37 4 3129256 3129256 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355072.5:c.1668G>A p.Ser556= p.S556= ENST00000355072 NM_002111.6 556 tcG/tcA 0 Silent G 38 HTT SNP 4 G A 3099054 3099054 WashU MXRA5 25878 genome.wustl.edu GRCh37 X 3248743 3248743 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000217939.6:c.260A>C p.His87Pro p.H87P ENST00000217939 NM_015419.3 87 cAc/cCc 0 Missense_Mutation T 59 MXRA5 SNP 23 T G 3258743 3258743 WashU CDC25B 994 genome.wustl.edu GRCh37 20 3783558 3783558 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000245960.5:c.1196C>G p.Ala399Gly p.A399G ENST00000245960 NM_021873.2 399 gCc/gGc 0 Missense_Mutation C 26 CDC25B SNP 20 C G 3731558 3731558 WashU TRIM21 6737 genome.wustl.edu GRCh37 11 4406634 4406634 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000254436.7:c.1309G>A p.Ala437Thr p.A437T ENST00000254436 NM_003141.3 437 Gcc/Acc 0 Missense_Mutation C 25 TRIM21 SNP 11 C T 4363210 4363210 WashU ADAMTS16 170690 genome.wustl.edu GRCh37 5 5186163 5186163 + splice_acceptor_variant Splice_Site SNP A A G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274181.7:c.764-2A>G p.X255_splice ENST00000274181 NM_139056.2 0 Splice_Site_SNP A 15 ADAMTS16 SNP 5 A G 5239163 5239163 WashU TP53 7157 genome.wustl.edu GRCh37 17 7574003 7574003 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.1024C>T p.Arg342Ter p.R342* ENST00000269305 NM_001126112.2 342 Cga/Tga 0 Nonsense_Mutation G 39 TP53 SNP 17 G A 7514728 7514728 WashU C1orf127 148345 genome.wustl.edu GRCh37 1 11017680 11017680 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377004.4:c.686G>C p.Arg229Thr p.R229T ENST00000377004 NM_001170754.1 229 aGg/aCg 0 Missense_Mutation C 24 C1orf127 SNP 1 C G 10940267 10940267 WashU GSPT1 2935 genome.wustl.edu GRCh37 16 11990467 11990467 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000434724.2:c.612G>T p.Pro204= p.P204= ENST00000434724 NM_002094.3 204 ccG/ccT 0 Silent C 27 GSPT1 SNP 16 C A 11897968 11897968 WashU SLC1A6 6511 genome.wustl.edu GRCh37 19 15067395 15067395 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000221742.3:c.1062C>T p.Ala354= p.A354= ENST00000221742 NM_005071.2 354 gcC/gcT 0 Silent G 39 SLC1A6 SNP 19 G A 14928395 14928395 WashU OR4N5 390437 genome.wustl.edu GRCh37 14 20612745 20612745 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333629.1:c.851C>A p.Pro284His p.P284H ENST00000333629 NM_001004724.1 284 cCt/cAt 0 Missense_Mutation C 24 OR4N5 SNP 14 C A 19682585 19682585 WashU ACSM5 54988 genome.wustl.edu GRCh37 16 20448643 20448643 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331849.4:c.1490T>C p.Val497Ala p.V497A ENST00000331849 NM_017888.2 497 gTc/gCc 0 Missense_Mutation T 58 ACSM5 SNP 16 T C 20356144 20356144 WashU ACSM5 54988 genome.wustl.edu GRCh37 16 20448680 20448680 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331849.4:c.1527C>G p.Ile509Met p.I509M ENST00000331849 NM_017888.2 509 atC/atG 0 Missense_Mutation C 29 ACSM5 SNP 16 C G 20356181 20356181 WashU DNAH3 55567 genome.wustl.edu GRCh37 16 20974772 20974772 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261383.3:c.10434T>G p.Cys3478Trp p.C3478W ENST00000261383 NM_017539.1 3478 tgT/tgG 0 Missense_Mutation A 2 DNAH3 SNP 16 A C 20882273 20882273 WashU HSPG2 3339 genome.wustl.edu GRCh37 1 22202240 22202240 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374695.3:c.3184C>A p.Gln1062Lys p.Q1062K ENST00000374695 NM_005529.5 1062 Caa/Aaa 0 Missense_Mutation G 46 HSPG2 SNP 1 G T 22074827 22074827 WashU PTCHD1 139411 genome.wustl.edu GRCh37 X 23411370 23411370 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379361.4:c.1735A>G p.Thr579Ala p.T579A ENST00000379361 NM_173495.2 579 Acc/Gcc 0 Missense_Mutation A 6 PTCHD1 SNP 23 A G 23321291 23321291 WashU SOX5 6660 genome.wustl.edu GRCh37 12 23893901 23893901 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000451604.2:c.641A>T p.Glu214Val p.E214V ENST00000451604 214 gAg/gTg 0 Missense_Mutation T 54 SOX5 SNP 12 T A 23785168 23785168 WashU SLC34A2 10568 genome.wustl.edu GRCh37 4 25671403 25671403 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382051.3:c.770G>C p.Gly257Ala p.G257A ENST00000382051 NM_006424.2 257 gGa/gCa 0 Missense_Mutation G 41 SLC34A2 SNP 4 G C 25280501 25280501 WashU ASUN 55726 genome.wustl.edu GRCh37 12 27089631 27089631 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261191.7:c.106A>G p.Asn36Asp p.N36D ENST00000261191 NM_018164.2 36 Aat/Gat 0 Missense_Mutation T 62 C12orf11 SNP 12 T C 26980898 26980898 WashU LNX2 222484 genome.wustl.edu GRCh37 13 28141953 28141953 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316334.3:c.679C>T p.Pro227Ser p.P227S ENST00000316334 NM_153371.3 227 Cca/Tca 0 Missense_Mutation G 44 LNX2 SNP 13 G A 27039953 27039953 WashU FLT1 2321 genome.wustl.edu GRCh37 13 29008235 29008235 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282397.4:c.636T>A p.Asn212Lys p.N212K ENST00000282397 NM_002019.4 212 aaT/aaA 0 Missense_Mutation A 8 FLT1 SNP 13 A T 27906235 27906235 WashU GPX6 257202 genome.wustl.edu GRCh37 6 28474135 28474135 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361902.1:c.313G>T p.Gly105Ter p.G105* ENST00000361902 NM_182701.1 105 Gga/Tga 0 Nonsense_Mutation C 21 GPX6 SNP 6 C A 28582114 28582114 WashU PLAGL2 5326 genome.wustl.edu GRCh37 20 30789743 30789743 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000246229.4:c.239C>T p.Ala80Val p.A80V ENST00000246229 NM_002657.3 80 gCt/gTt 0 Missense_Mutation G 34 PLAGL2 SNP 20 G A 30253404 30253404 WashU BPIFB6 128859 genome.wustl.edu GRCh37 20 31622567 31622567 + splice_acceptor_variant Splice_Site SNP A A G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000349552.1:c.303-2A>G p.X101_splice ENST00000349552 NM_174897.2 0 Splice_Site_SNP A 7 BPIL3 SNP 20 A G 31086228 31086228 WashU CNBD2 140894 genome.wustl.edu GRCh37 20 34568441 34568441 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000349339.1:c.304G>T p.Asp102Tyr p.D102Y ENST00000349339 NM_080834.2 102 Gat/Tat 0 Missense_Mutation G 41 C20orf152 SNP 20 G T 34031855 34031855 WashU MEIS2 4212 genome.wustl.edu GRCh37 15 37390181 37390181 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000561208.1:c.232G>A p.Asp78Asn p.D78N ENST00000561208 78 Gac/Aac 0 Missense_Mutation C 30 MEIS2 SNP 15 C T 35177473 35177473 WashU FAM98B 283742 genome.wustl.edu GRCh37 15 38757484 38757484 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397609.2:c.232G>C p.Glu78Gln p.E78Q ENST00000397609 NM_173611.2 78 Gag/Cag 0 Missense_Mutation G 33 FAM98B SNP 15 G C 36544776 36544776 WashU FRMPD1 22844 genome.wustl.edu GRCh37 9 37744774 37744774 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000539465.1:c.2745C>T p.Asn915= p.N915= ENST00000539465 915 aaC/aaT 0 Silent C 18 FRMPD1 SNP 9 C T 37734774 37734774 WashU CNTNAP1 8506 genome.wustl.edu GRCh37 17 40842770 40842770 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264638.4:c.1869G>A p.Trp623Ter p.W623* ENST00000264638 NM_003632.2 623 tgG/tgA 0 Nonsense_Mutation G 41 CNTNAP1 SNP 17 G A 38096296 38096296 WashU ATL2 64225 genome.wustl.edu GRCh37 2 38570462 38570462 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378954.4:c.311G>C p.Arg104Pro p.R104P ENST00000378954 NM_001135673.1 104 cGt/cCt 0 Missense_Mutation C 19 ATL2 SNP 2 C G 38423966 38423966 WashU ADAM32 203102 genome.wustl.edu GRCh37 8 39068780 39068780 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379907.4:c.1170G>A p.Pro390= p.P390= ENST00000379907 NM_145004.5 390 ccG/ccA 0 Silent G 37 ADAM32 SNP 8 G A 39187937 39187937 WashU XIRP1 165904 genome.wustl.edu GRCh37 3 39229303 39229303 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340369.3:c.1634G>C p.Gly545Ala p.G545A ENST00000340369 NM_194293.2 545 gGg/gCg 0 Missense_Mutation C 22 XIRP1 SNP 3 C G 39204307 39204307 WashU DSCAM 1826 genome.wustl.edu GRCh37 21 41725485 41725485 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400454.1:c.841G>A p.Glu281Lys p.E281K ENST00000400454 NM_001271534.1 281 Gag/Aag 0 Missense_Mutation C 29 DSCAM SNP 21 C T 40647355 40647355 WashU TCF20 6942 genome.wustl.edu GRCh37 22 42605820 42605820 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359486.3:c.5492C>G p.Thr1831Ser p.T1831S ENST00000359486 NM_005650.2 1831 aCt/aGt 0 Missense_Mutation G 36 TCF20 SNP 22 G C 40935764 40935764 WashU EPSTI1 94240 genome.wustl.edu GRCh37 13 43462622 43462622 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313640.7:c.997T>C p.Leu333= p.L333= ENST00000313640 NM_001002264.2 333 Ttg/Ctg 0 Silent A 4 EPSTI1 SNP 13 A G 42360622 42360622 WashU TDRD6 221400 genome.wustl.edu GRCh37 6 46658791 46658791 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316081.6:c.2926T>C p.Phe976Leu p.F976L ENST00000316081 NM_001010870.2 976 Ttc/Ctc 0 Missense_Mutation T 56 TDRD6 SNP 6 T C 46766750 46766750 WashU ACP2 53 genome.wustl.edu GRCh37 11 47266885 47266885 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256997.3:c.610T>C p.Trp204Arg p.W204R ENST00000256997 NM_001610.2 204 Tgg/Cgg 0 Missense_Mutation A 7 ACP2 SNP 11 A G 47223461 47223461 WashU MADD 8567 genome.wustl.edu GRCh37 11 47333386 47333386 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311027.5:c.4262C>T p.Ala1421Val p.A1421V ENST00000311027 NM_003682.3 1421 gCg/gTg 0 Missense_Mutation C 27 MADD SNP 11 C T 47289962 47289962 WashU KRT6B 3854 genome.wustl.edu GRCh37 12 52845636 52845636 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000252252.3:c.227G>C p.Ser76Thr p.S76T ENST00000252252 NM_005555.3 76 aGc/aCc 0 Missense_Mutation C 28 KRT6B SNP 12 C G 51131903 51131903 WashU CCDC8 83987 genome.wustl.edu GRCh37 19 46915369 46915369 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307522.3:c.699C>T p.Ser233= p.S233= ENST00000307522 NM_032040.4 233 agC/agT 0 Silent G 38 CCDC8 SNP 19 G A 51607209 51607209 WashU ANKRD52 283373 genome.wustl.edu GRCh37 12 56641394 56641394 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000267116.7:c.2067G>A p.Gln689= p.Q689= ENST00000267116 NM_173595.3 689 caG/caA 0 Silent C 30 ANKRD52 SNP 12 C T 54927661 54927661 WashU OR5M3 219482 genome.wustl.edu GRCh37 11 56237502 56237502 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312240.2:c.472A>G p.Thr158Ala p.T158A ENST00000312240 NM_001004742.2 158 Aca/Gca 0 Missense_Mutation T 60 OR5M3 SNP 11 T C 55994078 55994078 WashU OR9Q2 219957 genome.wustl.edu GRCh37 11 57958276 57958276 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311591.3:c.314C>A p.Thr105Asn p.T105N ENST00000311591 NM_001005283.2 105 aCc/aAc 0 Missense_Mutation C 18 OR9Q2 SNP 11 C A 57714852 57714852 WashU DDX42 11325 genome.wustl.edu GRCh37 17 61895513 61895513 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000578681.1:c.2572C>T p.Arg858Trp p.R858W ENST00000578681 NM_007372.3 858 Cgg/Tgg 0 Missense_Mutation C 31 DDX42 SNP 17 C T 59249245 59249245 WashU NLRP9 338321 genome.wustl.edu GRCh37 19 56241220 56241220 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332836.2:c.1971T>A p.Pro657= p.P657= ENST00000332836 NM_176820.2 657 ccT/ccA 0 Silent A 7 NLRP9 SNP 19 A T 60933032 60933032 WashU CLVS1 157807 genome.wustl.edu GRCh37 8 62212549 62212549 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000519846.1:c.163C>G p.Gln55Glu p.Q55E ENST00000519846 55 Caa/Gaa 0 Missense_Mutation C 25 CLVS1 SNP 8 C G 62375103 62375103 WashU MTHFD1 4522 genome.wustl.edu GRCh37 14 64886542 64886542 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216605.8:c.626G>C p.Gly209Ala p.G209A ENST00000216605 NM_005956.3 209 gGt/gCt 0 Missense_Mutation G 44 MTHFD1 SNP 14 G C 63956295 63956295 WashU SLC39A11 201266 genome.wustl.edu GRCh37 17 71027735 71027735 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000542342.2:c.266C>T p.Ala89Val p.A89V ENST00000542342 NM_001159770.1 89 gCg/gTg 0 Missense_Mutation G 38 SLC39A11 SNP 17 G A 68539330 68539330 WashU TET1 80312 genome.wustl.edu GRCh37 10 70406107 70406107 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373644.4:c.3621T>G p.Pro1207= p.P1207= ENST00000373644 NM_030625.2 1207 ccT/ccG 0 Silent T 53 TET1 SNP 10 T G 70076113 70076113 WashU SENP8 123228 genome.wustl.edu GRCh37 15 72432489 72432489 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000544411.1:c.525T>A p.Cys175Ter p.C175* ENST00000544411 NM_001172110.1 175 tgT/tgA 0 Nonsense_Mutation T 58 SENP8 SNP 15 T A 70219543 70219543 WashU LMBRD1 55788 genome.wustl.edu GRCh37 6 70407490 70407490 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370577.3:c.1382C>T p.Ser461Phe p.S461F ENST00000370577 NM_018368.3 461 tCt/tTt 0 Missense_Mutation G 33 LMBRD1 SNP 6 G A 70464211 70464211 WashU RGAG4 340526 genome.wustl.edu GRCh37 X 71350666 71350666 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000545866.1:c.725G>A p.Arg242His p.R242H ENST00000545866 NM_001024455.3 242 cGc/cAc 0 Missense_Mutation C 27 RGAG4 SNP 23 C T 71267391 71267391 WashU HCCAT5 283902 genome.wustl.edu GRCh37 16 73127104 73127104 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000569990.2:n.762T>C *254* ENST00000569990 0 Missense_Mutation T 51 HTA SNP 16 T C 71684605 71684605 WashU CCDC33 80125 genome.wustl.edu GRCh37 15 74560788 74560788 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398814.3:c.535A>T p.Met179Leu p.M179L ENST00000398814 NM_025055.4 179 Atg/Ttg 0 Missense_Mutation A 8 CCDC33 SNP 15 A T 72347841 72347841 WashU ALMS1 7840 genome.wustl.edu GRCh37 2 73716958 73716958 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264448.6:c.7869C>A p.Ala2623= p.A2623= ENST00000264448 NM_015120.4 2623 gcC/gcA 0 Silent C 21 ALMS1 SNP 2 C A 73570466 73570466 WashU PCNPP4 100128989 genome.wustl.edu GRCh37 X 74758408 74758408 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000414817.2:n.130C>A *44* ENST00000414817 0 Missense_Mutation G 36 LOC100128989 SNP 23 G T 74675133 74675133 WashU ZFHX4 79776 genome.wustl.edu GRCh37 8 77767042 77767042 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000521891.2:c.7885A>C p.Asn2629His p.N2629H ENST00000521891 NM_024721.4 2629 Aat/Cat 0 Missense_Mutation A 5 ZFHX4 SNP 8 A C 77929597 77929597 WashU ANTXR2 118429 genome.wustl.edu GRCh37 4 80952837 80952837 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307333.7:c.806C>T p.Pro269Leu p.P269L ENST00000307333 NM_001145794.1 269 cCa/cTa 0 Missense_Mutation G 47 ANTXR2 SNP 4 G A 81171861 81171861 WashU GRID1 2894 genome.wustl.edu GRCh37 10 87487708 87487708 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327946.7:c.1437C>T p.Gly479= p.G479= ENST00000327946 NM_017551.2 479 ggC/ggT 0 Silent G 34 GRID1 SNP 10 G A 87477688 87477688 WashU TRRAP 8295 genome.wustl.edu GRCh37 7 98581113 98581113 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359863.4:c.9032C>T p.Ser3011Leu p.S3011L ENST00000359863 NM_001244580.1 3011 tCa/tTa 0 Missense_Mutation C 29 TRRAP SNP 7 C T 98419049 98419049 WashU RRP12 23223 genome.wustl.edu GRCh37 10 99141485 99141485 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370992.4:c.1307C>T p.Thr436Met p.T436M ENST00000370992 NM_015179.3 436 aCg/aTg 0 Missense_Mutation G 40 RRP12 SNP 10 G A 99131475 99131475 WashU BIRC3 330 genome.wustl.edu GRCh37 11 102195983 102195983 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263464.3:c.743C>G p.Ser248Cys p.S248C ENST00000263464 NM_001165.4 248 tCt/tGt 0 Missense_Mutation C 32 BIRC3 SNP 11 C G 101701193 101701193 WashU BANK1 55024 genome.wustl.edu GRCh37 4 102751175 102751175 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322953.4:c.281C>T p.Thr94Ile p.T94I ENST00000322953 NM_017935.4 94 aCt/aTt 0 Missense_Mutation C 20 BANK1 SNP 4 C T 102970198 102970198 WashU RPH3A 22895 genome.wustl.edu GRCh37 12 113321126 113321126 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389385.4:c.1355G>A p.Arg452Gln p.R452Q ENST00000389385 NM_001143854.1 452 cGg/cAg 0 Missense_Mutation G 39 RPH3A SNP 12 G A 111805509 111805509 WashU SVEP1 79987 genome.wustl.edu GRCh37 9 113149588 113149588 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000401783.2:c.10037G>A p.Ser3346Asn p.S3346N ENST00000401783 NM_153366.3 3346 aGc/aAc 0 Missense_Mutation C 28 SVEP1 SNP 9 C T 112189409 112189409 WashU CSMD3 114788 genome.wustl.edu GRCh37 8 113694760 113694760 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297405.5:c.2588G>A p.Gly863Glu p.G863E ENST00000297405 NM_198123.1 863 gGa/gAa 0 Missense_Mutation C 30 CSMD3 SNP 8 C T 113763936 113763936 WashU CTTNBP2 83992 genome.wustl.edu GRCh37 7 117351733 117351733 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000160373.3:c.4850G>C p.Arg1617Thr p.R1617T ENST00000160373 NM_033427.2 1617 aGa/aCa 0 Missense_Mutation C 32 CTTNBP2 SNP 7 C G 117138969 117138969 WashU SRRM4 84530 genome.wustl.edu GRCh37 12 119592167 119592167 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000267260.4:c.1511T>G p.Leu504Arg p.L504R ENST00000267260 NM_194286.3 504 cTg/cGg 0 Missense_Mutation T 55 SRRM4 SNP 12 T G 118076550 118076550 WashU C5 727 genome.wustl.edu GRCh37 9 123780131 123780131 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000223642.1:c.1507-1G>C p.X503_splice ENST00000223642 NM_001735.2 0 Splice_Site_SNP C 32 C5 SNP 9 C G 122819952 122819952 WashU TENM1 10178 genome.wustl.edu GRCh37 X 123517890 123517890 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422452.2:c.6891G>T p.Glu2297Asp p.E2297D ENST00000422452 NM_001163279.1 2297 gaG/gaT 0 Missense_Mutation C 32 ODZ1 SNP 23 C A 123345571 123345571 WashU ZNF608 57507 genome.wustl.edu GRCh37 5 123984308 123984308 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306315.5:c.1769A>T p.Asp590Val p.D590V ENST00000306315 NM_020747.2 590 gAc/gTc 0 Missense_Mutation T 58 ZNF608 SNP 5 T A 124012207 124012207 WashU FAM24A 118670 genome.wustl.edu GRCh37 10 124672396 124672396 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368894.1:c.244T>C p.Cys82Arg p.C82R ENST00000368894 NM_001029888.1 82 Tgt/Cgt 0 Missense_Mutation T 55 FAM24A SNP 10 T C 124662386 124662386 WashU TNPO3 23534 genome.wustl.edu GRCh37 7 128655107 128655107 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265388.5:c.478C>A p.Arg160= p.R160= ENST00000265388 160 Cga/Aga 0 Silent G 40 TNPO3 SNP 7 G T 128442343 128442343 WashU MST4 51765 genome.wustl.edu GRCh37 X 131207039 131207039 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000394334.2:c.1144G>A p.Glu382Lys p.E382K ENST00000394334 NM_016542.3 382 Gag/Aag 0 Missense_Mutation G 37 MST4 SNP 23 G A 131034720 131034720 WashU EFR3A 23167 genome.wustl.edu GRCh37 8 132957037 132957037 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000254624.5:c.133G>C p.Val45Leu p.V45L ENST00000254624 NM_015137.4 45 Gta/Cta 0 Missense_Mutation G 36 EFR3A SNP 8 G C 133026219 133026219 WashU HIPK2 28996 genome.wustl.edu GRCh37 7 139299210 139299210 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000406875.3:c.1812C>G p.Ser604= p.S604= ENST00000406875 NM_022740.4 604 tcC/tcG 0 Silent G 35 HIPK2 SNP 7 G C 138949750 138949750 WashU PCDHB16 57717 genome.wustl.edu GRCh37 5 140562641 140562641 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361016.2:c.507C>T p.Asn169= p.N169= ENST00000361016 NM_020957.1 169 aaC/aaT 0 Silent C 20 PCDHB16 SNP 5 C T 140542825 140542825 WashU ACVR1 90 genome.wustl.edu GRCh37 2 158594088 158594088 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263640.3:c.1485G>C p.Leu495Phe p.L495F ENST00000263640 NM_001105.4 495 ttG/ttC 0 Missense_Mutation C 29 ACVR1 SNP 2 C G 158302334 158302334 WashU NSG2 51617 genome.wustl.edu GRCh37 5 173534384 173534384 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000303177.3:c.392G>A p.Arg131His p.R131H ENST00000303177 NM_015980.4 131 cGc/cAc 0 Missense_Mutation G 38 HMP19 SNP 5 G A 173466990 173466990 WashU HOXD10 3236 genome.wustl.edu GRCh37 2 176983684 176983684 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000249501.4:c.748G>A p.Glu250Lys p.E250K ENST00000249501 NM_002148.3 250 Gaa/Aaa 0 Missense_Mutation G 41 HOXD10 SNP 2 G A 176691930 176691930 WashU LAMC2 3918 genome.wustl.edu GRCh37 1 183212497 183212497 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264144.4:c.3544C>G p.Pro1182Ala p.P1182A ENST00000264144 NM_005562.2 1182 Cca/Gca 0 Missense_Mutation C 22 LAMC2 SNP 1 C G 181479120 181479120 WashU STAT1 6772 genome.wustl.edu GRCh37 2 191839594 191839594 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361099.3:c.2200G>C p.Val734Leu p.V734L ENST00000361099 NM_007315.3 734 Gtg/Ctg 0 Missense_Mutation C 18 STAT1 SNP 2 C G 191547839 191547839 WashU UBXN7 26043 genome.wustl.edu GRCh37 3 196094997 196094997 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296328.4:c.736G>T p.Asp246Tyr p.D246Y ENST00000296328 NM_015562.1 246 Gat/Tat 0 Missense_Mutation C 32 UBXN7 SNP 3 C A 197579394 197579394 WashU BMPR2 659 genome.wustl.edu GRCh37 2 203424473 203424473 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000374580.4:c.2921G>C p.Arg974Pro p.R974P ENST00000374580 NM_001204.6 974 cGt/cCt 0 Missense_Mutation G 40 BMPR2 SNP 2 G C 203132718 203132718 WashU EPRS 2058 genome.wustl.edu GRCh37 1 220162112 220162112 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366923.3:c.2595A>G p.Lys865= p.K865= ENST00000366923 NM_004446.2 865 aaA/aaG 0 Silent T 56 EPRS SNP 1 T C 218228735 218228735 WashU AGFG1 3267 genome.wustl.edu GRCh37 2 228418450 228418450 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409979.2:c.1634A>G p.Lys545Arg p.K545R ENST00000409979 NM_001135187.1 545 aAg/aGg 0 Missense_Mutation A 3 AGFG1 SNP 2 A G 228126694 228126694 WashU COL6A3 1293 genome.wustl.edu GRCh37 2 238243270 238243270 + splice_region_variant,synonymous_variant Splice_Region SNP T T G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295550.4:c.9228A>C p.Thr3076= p.T3076= ENST00000295550 NM_004369.3 3076 acA/acC 0 Silent T 63 COL6A3 SNP 2 T G 237908009 237908009 WashU RGS7 6000 genome.wustl.edu GRCh37 1 240966120 240966120 + intron_variant Intron SNP C C T novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366565.1:c.1359+84G>A *453* ENST00000366565 NM_002924.4 0 Missense_Mutation C 18 RGS7 SNP 1 C T 239032743 239032743 WashU COL4A1 1282 genome.wustl.edu GRCh37 13 110817260 110817260 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000375820.4:c.4099C>T p.Pro1367Ser p.P1367S ENST00000375820 NM_001845.4 1367 Ccc/Tcc 0 Missense_Mutation G 43 COL4A1 SNP 13 A G 109615261 109615261 WashU POLI 11201 genome.wustl.edu GRCh37 18 51800324 51800324 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C A C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000579534.1:c.270C>A p.Thr90= p.T90= ENST00000579534 NM_007195.2 90 acC/acA 0 Silent C 24 POLI SNP 18 A C 50054322 50054322 WashU NRP1 8829 genome.wustl.edu GRCh37 10 33510661 33510661 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265371.4:c.1268G>C p.Gly423Ala p.G423A ENST00000265371 423 gGt/gCt 0 Missense_Mutation C 18 NRP1 SNP 10 C G 33550667 33550667 WashU POTEKP 440915 genome.wustl.edu GRCh37 2 132357668 132357668 + non_coding_transcript_exon_variant RNA SNP C C G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000420985.4:n.733C>G *245* ENST00000420985 0 Missense_Mutation C 20 POTEKP SNP 2 C G 132074138 132074138 WashU OR7E35P genome.wustl.edu GRCh37 4 9756802 9756802 + non_coding_transcript_exon_variant RNA SNP T T A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000514144.1:n.281T>A *94* ENST00000514144 0 Silent T 54 ENSG00000197004 SNP 4 T A 9365900 9365900 WashU PCDHA2 56146 genome.wustl.edu GRCh37 5 140174571 140174571 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000526136.1:c.22G>C p.Gly8Arg p.G8R ENST00000526136 NM_018905.2 8 Ggc/Cgc 0 Missense_Mutation G 43 PCDHA2 SNP 5 G C 140154755 140154755 WashU CDSN 1041 genome.wustl.edu GRCh37 6 31083820 31083820 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376288.2:c.1572G>C p.Glu524Asp p.E524D ENST00000376288 NM_001264.4 524 gaG/gaC 0 Missense_Mutation C 20 CDSN SNP 6 C G 31191799 31191799 WashU ROR2 4920 genome.wustl.edu GRCh37 9 94487229 94487229 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01 TCGA-13-0884-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375708.3:c.1547C>T p.Pro516Leu p.P516L ENST00000375708 NM_004560.3 516 cCc/cTc 0 Missense_Mutation G 43 ROR2 SNP 9 G A 93527050 93527050 WashU C8orf76 84933 genome.wustl.edu GRCh37 8 124243568 124243578 + frameshift_variant Frame_Shift_Del DEL TCAGCTGAGTC TCAGCTGAGTC - Unknown TCGA-13-0884-01 TCGA-13-0884-10 TCAGCTGAGTC TCAGCTGAGTC TCAGCTGAGTC - TCAGCTGAGTC TCAGCTGAGTC Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000276704.4:c.777_787del p.Thr260SerfsTer35 p.T260Sfs*35 ENST00000276704 NM_032847.2 259 gaGACTCAGCTGAaa/gaaa 0 Frame_Shift_Del TCAGCTGAGTC 62 C8orf76 DEL 8 TCAGCTGAGTC - 124312759 124312749 WashU IFT140 9742 genome.wustl.edu GRCh37 16 1642487 1642487 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000426508.2:c.472C>T p.Arg158Trp p.R158W ENST00000426508 NM_014714.3 158 Cgg/Tgg 0 Missense_Mutation G 39 IFT140 SNP 16 G A 1582488 1582488 WashU ZNF594 84622 genome.wustl.edu GRCh37 17 5085758 5085758 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399604.4:c.1794C>T p.Cys598= p.C598= ENST00000399604 598 tgC/tgT 0 Silent G 46 ZNF594 SNP 17 G A 5026482 5026482 WashU CHGB 1114 genome.wustl.edu GRCh37 20 5904197 5904197 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378961.4:c.1407A>T p.Arg469Ser p.R469S ENST00000378961 NM_001819.2 469 agA/agT 0 Missense_Mutation A 9 CHGB SNP 20 A T 5852197 5852197 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578526 7578526 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.404G>A p.Cys135Tyr p.C135Y ENST00000269305 NM_001126112.2 135 tGc/tAc 0 Missense_Mutation C 25 TP53 SNP 17 C T 7519251 7519251 WashU MYH3 4621 genome.wustl.edu GRCh37 17 10545920 10545920 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000583535.1:c.1702A>G p.Lys568Glu p.K568E ENST00000583535 NM_002470.3 568 Aag/Gag 0 Missense_Mutation T 63 MYH3 SNP 17 T C 10486645 10486645 WashU UNC13A 23025 genome.wustl.edu GRCh37 19 17743933 17743933 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000519716.2:c.3285G>A p.Met1095Ile p.M1095I ENST00000519716 NM_001080421.2 1095 atG/atA 0 Missense_Mutation C 29 UNC13A SNP 19 C T 17604933 17604933 WashU PTPN5 84867 genome.wustl.edu GRCh37 11 18759442 18759442 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358540.2:c.985A>G p.Lys329Glu p.K329E ENST00000358540 NM_006906.1 329 Aaa/Gaa 0 Missense_Mutation T 63 PTPN5 SNP 11 T C 18716018 18716018 WashU CRNKL1 51340 genome.wustl.edu GRCh37 20 20022259 20022259 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377340.2:c.1658G>A p.Arg553Lys p.R553K ENST00000377340 NM_016652.5 553 aGg/aAg 0 Missense_Mutation C 24 CRNKL1 SNP 20 C T 19970259 19970259 WashU DHRS4 10901 genome.wustl.edu GRCh37 14 24424255 24424255 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313250.5:c.140C>T p.Ala47Val p.A47V ENST00000313250 NM_021004.2 47 gCc/gTc 0 Missense_Mutation C 26 DHRS4 SNP 14 C T 23494095 23494095 WashU SCGN 10590 genome.wustl.edu GRCh37 6 25670237 25670237 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377961.2:c.404G>A p.Arg135Gln p.R135Q ENST00000377961 NM_006998.3 135 cGa/cAa 0 Missense_Mutation G 37 SCGN SNP 6 G A 25778216 25778216 WashU HIST1H4H 8365 genome.wustl.edu GRCh37 6 26285723 26285723 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000289352.1:c.5C>G p.Ser2Cys p.S2C ENST00000289352 2 tCt/tGt 0 Missense_Mutation G 33 HIST1H4H SNP 6 G C 26393702 26393702 WashU XKR7 343702 genome.wustl.edu GRCh37 20 30585011 30585011 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000562532.2:c.1491C>T p.Thr497= p.T497= ENST00000562532 NM_001011718.1 497 acC/acT 0 Silent C 22 XKR7 SNP 20 C T 30048672 30048672 WashU CLASP2 23122 genome.wustl.edu GRCh37 3 33686307 33686307 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000468888.2:c.804C>T p.Ser268= p.S268= ENST00000468888 268 tcC/tcT 0 Silent G 39 CLASP2 SNP 3 G A 33661311 33661311 WashU HMOX1 3162 genome.wustl.edu GRCh37 22 35782809 35782809 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216117.8:c.276C>T p.Asp92= p.D92= ENST00000216117 NM_002133.2 92 gaC/gaT 0 Silent C 18 HMOX1 SNP 22 C T 34112809 34112809 WashU PIP4K2B 8396 genome.wustl.edu GRCh37 17 36936743 36936743 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269554.3:c.469G>T p.Val157Leu p.V157L ENST00000269554 NM_003559.4 157 Gtg/Ttg 0 Missense_Mutation C 19 PIP4K2B SNP 17 C A 34190269 34190269 WashU PPARD 5467 genome.wustl.edu GRCh37 6 35392337 35392337 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311565.4:c.859C>T p.His287Tyr p.H287Y ENST00000311565 NM_001171818.1 287 Cac/Tac 0 Missense_Mutation C 25 PPARD SNP 6 C T 35500315 35500315 WashU AGO1 26523 genome.wustl.edu GRCh37 1 36367869 36367869 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373204.4:c.1328G>T p.Gly443Val p.G443V ENST00000373204 NM_012199.2 443 gGg/gTg 0 Missense_Mutation G 43 EIF2C1 SNP 1 G T 36140456 36140456 WashU STK38 11329 genome.wustl.edu GRCh37 6 36466154 36466154 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000229812.7:c.1062G>T p.Lys354Asn p.K354N ENST00000229812 NM_007271.2 354 aaG/aaT 0 Missense_Mutation C 24 STK38 SNP 6 C A 36574132 36574132 WashU LRRFIP2 9209 genome.wustl.edu GRCh37 3 37125235 37125235 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000421307.1:c.1170C>T p.Asp390= p.D390= ENST00000421307 NM_006309.2 390 gaC/gaT 0 Silent G 48 LRRFIP2 SNP 3 G A 37100239 37100239 WashU ELMO1 9844 genome.wustl.edu GRCh37 7 37253054 37253054 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310758.4:c.840C>T p.Ile280= p.I280= ENST00000310758 NM_014800.10 280 atC/atT 0 Silent G 41 ELMO1 SNP 7 G A 37219579 37219579 WashU KLHL10 317719 genome.wustl.edu GRCh37 17 40001495 40001495 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000293303.4:c.802G>C p.Asp268His p.D268H ENST00000293303 NM_152467.3 268 Gac/Cac 0 Missense_Mutation G 45 KLHL10 SNP 17 G C 37255021 37255021 WashU PREPL 9581 genome.wustl.edu GRCh37 2 44548965 44548965 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409936.1:c.2094+1G>T p.X698_splice ENST00000409936 NM_001171606.1 0 Splice_Site_SNP C 18 PREPL SNP 2 C A 44402469 44402469 WashU ZNF197 10168 genome.wustl.edu GRCh37 3 44684620 44684620 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396058.1:c.1998T>G p.Ile666Met p.I666M ENST00000396058 666 atT/atG 0 Missense_Mutation T 64 ZNF197 SNP 3 T G 44659624 44659624 WashU YBEY 54059 genome.wustl.edu GRCh37 21 47711310 47711310 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329319.3:c.273T>G p.Ile91Met p.I91M ENST00000329319 NM_058181.1 91 atT/atG 0 Missense_Mutation T 64 C21orf57 SNP 21 T G 46535738 46535738 WashU ATP9A 10079 genome.wustl.edu GRCh37 20 50310638 50310638 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338821.5:c.551C>T p.Ser184Leu p.S184L ENST00000338821 NM_006045.1 184 tCa/tTa 0 Missense_Mutation G 45 ATP9A SNP 20 G A 49744045 49744045 WashU SPIN3 169981 genome.wustl.edu GRCh37 X 57021238 57021238 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374919.3:c.143A>C p.Asn48Thr p.N48T ENST00000374919 NM_001010862.2 48 aAc/aCc 0 Missense_Mutation T 60 SPIN3 SNP 23 T G 57037963 57037963 WashU SETD6 79918 genome.wustl.edu GRCh37 16 58552386 58552386 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000219315.4:c.1055G>A p.Gly352Glu p.G352E ENST00000219315 352 gGa/gAa 0 Missense_Mutation G 41 SETD6 SNP 16 G A 57109887 57109887 WashU STX3 6809 genome.wustl.edu GRCh37 11 59560622 59560622 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337979.4:c.517A>G p.Asn173Asp p.N173D ENST00000337979 NM_001178040.1 173 Aac/Gac 0 Missense_Mutation A 5 STX3 SNP 11 A G 59317198 59317198 WashU BATF2 116071 genome.wustl.edu GRCh37 11 64757120 64757120 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000301887.4:c.306G>A p.Gln102= p.Q102= ENST00000301887 NM_138456.3 102 caG/caA 0 Silent C 24 BATF2 SNP 11 C T 64513696 64513696 WashU ENAM 10117 genome.wustl.edu GRCh37 4 71509967 71509967 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396073.3:c.2824C>G p.Gln942Glu p.Q942E ENST00000396073 NM_031889.2 942 Caa/Gaa 0 Missense_Mutation C 21 ENAM SNP 4 C G 71728831 71728831 WashU SCAMP2 10066 genome.wustl.edu GRCh37 15 75140947 75140947 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268099.9:c.728G>C p.Gly243Ala p.G243A ENST00000268099 NM_005697.3 243 gGg/gCg 0 Missense_Mutation C 22 SCAMP2 SNP 15 C G 72928000 72928000 WashU SNW1 22938 genome.wustl.edu GRCh37 14 78203372 78203372 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261531.7:c.580C>G p.Gln194Glu p.Q194E ENST00000261531 NM_012245.2 194 Cag/Gag 0 Missense_Mutation G 48 SNW1 SNP 14 G C 77273125 77273125 WashU ELMOD3 84173 genome.wustl.edu GRCh37 2 85598576 85598576 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315658.7:c.498C>G p.Ser166Arg p.S166R ENST00000315658 NM_032213.4 166 agC/agG 0 Missense_Mutation C 26 ELMOD3 SNP 2 C G 85452087 85452087 WashU SYNCRIP 10492 genome.wustl.edu GRCh37 6 86324762 86324762 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369622.3:c.1584T>G p.Gly528= p.G528= ENST00000369622 NM_001159675.1 528 ggT/ggG 0 Silent A 10 SYNCRIP SNP 6 A C 86381481 86381481 WashU WDR93 56964 genome.wustl.edu GRCh37 15 90270453 90270453 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268130.7:c.946G>A p.Gly316Arg p.G316R ENST00000268130 NM_020212.1 316 Ggg/Agg 0 Missense_Mutation G 39 WDR93 SNP 15 G A 88071457 88071457 WashU GPR98 84059 genome.wustl.edu GRCh37 5 90024538 90024538 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405460.2:c.10214G>C p.Arg3405Pro p.R3405P ENST00000405460 NM_032119.3 3405 cGa/cCa 0 Missense_Mutation G 37 GPR98 SNP 5 G C 90060294 90060294 WashU NR2C1 7181 genome.wustl.edu GRCh37 12 95445552 95445552 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333003.5:c.951C>T p.Asn317= p.N317= ENST00000333003 NM_003297.3 317 aaC/aaT 0 Silent G 40 NR2C1 SNP 12 G A 93969683 93969683 WashU CASD1 64921 genome.wustl.edu GRCh37 7 94168341 94168341 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297273.4:c.1329G>C p.Leu443Phe p.L443F ENST00000297273 NM_022900.4 443 ttG/ttC 0 Missense_Mutation G 45 CASD1 SNP 7 G C 94006277 94006277 WashU ELK3 2004 genome.wustl.edu GRCh37 12 96640793 96640793 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000228741.3:c.283C>G p.Pro95Ala p.P95A ENST00000228741 NM_005230.2 95 Cct/Gct 0 Missense_Mutation C 30 ELK3 SNP 12 C G 95164924 95164924 WashU CCDC180 100499483 genome.wustl.edu GRCh37 9 100092886 100092886 + stop_gained Nonsense_Mutation SNP T T G novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375202.2:c.2243T>G p.Leu748Ter p.L748* ENST00000375202 748 tTa/tGa 0 Nonsense_Mutation T 61 KIAA1529 SNP 9 T G 99132707 99132707 WashU LOXL4 84171 genome.wustl.edu GRCh37 10 100011378 100011378 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260702.3:c.2033T>C p.Ile678Thr p.I678T ENST00000260702 NM_032211.6 678 aTt/aCt 0 Missense_Mutation A 4 LOXL4 SNP 10 A G 100001368 100001368 WashU ZPLD1 131368 genome.wustl.edu GRCh37 3 102187821 102187821 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306176.1:c.823C>A p.Pro275Thr p.P275T ENST00000306176 NM_175056.1 275 Cct/Act 0 Missense_Mutation C 22 ZPLD1 SNP 3 C A 103670511 103670511 WashU ADPRH 141 genome.wustl.edu GRCh37 3 119305486 119305486 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000478399.1:c.653A>C p.Gln218Pro p.Q218P ENST00000478399 218 cAa/cCa 0 Missense_Mutation A 5 ADPRH SNP 3 A C 120788176 120788176 WashU PARP14 54625 genome.wustl.edu GRCh37 3 122437033 122437033 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000474629.2:c.4116G>T p.Leu1372= p.L1372= ENST00000474629 NM_017554.2 1372 ctG/ctT 0 Silent G 46 PARP14 SNP 3 G T 123919723 123919723 WashU GRM8 2918 genome.wustl.edu GRCh37 7 126173509 126173509 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339582.2:c.1927C>A p.Pro643Thr p.P643T ENST00000339582 643 Cca/Aca 0 Missense_Mutation G 44 GRM8 SNP 7 G T 125960745 125960745 WashU GRM8 2918 genome.wustl.edu GRCh37 7 126173771 126173771 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339582.2:c.1665T>A p.Leu555= p.L555= ENST00000339582 555 ctT/ctA 0 Silent A 1 GRM8 SNP 7 A T 125961007 125961007 WashU AHCYL2 23382 genome.wustl.edu GRCh37 7 129019563 129019563 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000325006.3:c.448C>T p.Gln150Ter p.Q150* ENST00000325006 NM_001130720.2 150 Cag/Tag 0 Nonsense_Mutation C 29 AHCYL2 SNP 7 C T 128806799 128806799 WashU ENOX2 10495 genome.wustl.edu GRCh37 X 129771385 129771385 + splice_acceptor_variant Splice_Site SNP C C A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338144.3:c.1217-1G>T p.X406_splice ENST00000338144 NM_182314.1 0 Splice_Site_SNP C 28 ENOX2 SNP 23 C A 129599066 129599066 WashU MKI67 4288 genome.wustl.edu GRCh37 10 129905140 129905140 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368654.3:c.4964C>T p.Thr1655Ile p.T1655I ENST00000368654 NM_002417.4 1655 aCa/aTa 0 Missense_Mutation G 48 MKI67 SNP 10 G A 129795130 129795130 WashU FMR1 2332 genome.wustl.edu GRCh37 X 147009912 147009912 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370475.4:c.270+1G>T p.X90_splice ENST00000370475 NM_002024.5 0 Splice_Site_SNP G 44 FMR1 SNP 23 G T 146817604 146817604 WashU SCN1A 6323 genome.wustl.edu GRCh37 2 166848837 166848837 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303395.4:c.4948A>T p.Ile1650Phe p.I1650F ENST00000303395 1650 Atc/Ttc 0 Missense_Mutation T 50 SCN1A SNP 2 T A 166557083 166557083 WashU CCR6 1235 genome.wustl.edu GRCh37 6 167549746 167549746 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341935.5:c.28G>A p.Asp10Asn p.D10N ENST00000341935 NM_031409.3 10 Gat/Aat 0 Missense_Mutation G 37 CCR6 SNP 6 G A 167469736 167469736 WashU RANBP17 64901 genome.wustl.edu GRCh37 5 170351442 170351442 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000523189.1:c.1356A>G p.Glu452= p.E452= ENST00000523189 NM_022897.3 452 gaA/gaG 0 Silent A 4 RANBP17 SNP 5 A G 170284047 170284047 WashU SLC2A2 6514 genome.wustl.edu GRCh37 3 170724960 170724960 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314251.3:c.589G>A p.Val197Ile p.V197I ENST00000314251 NM_001278659.1 197 Gtc/Atc 0 Missense_Mutation C 19 SLC2A2 SNP 3 C T 172207654 172207654 WashU KCNT2 343450 genome.wustl.edu GRCh37 1 196295870 196295870 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294725.9:c.2253C>T p.Pro751= p.P751= ENST00000294725 751 ccC/ccT 0 Silent G 47 KCNT2 SNP 1 G A 194562493 194562493 WashU DSEL 92126 genome.wustl.edu GRCh37 18 65180980 65180981 + frameshift_variant Frame_Shift_Del DEL TG TG - novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 TG TG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000310045.7:c.895_896del p.Gln299ValfsTer10 p.Q299Vfs*10 ENST00000310045 NM_032160.2 299 CAg/g 0 Frame_Shift_Del TG 55 DSEL DEL 18 TG - 63331961 63331960 WashU CAT 847 genome.wustl.edu GRCh37 11 34470831 34470831 + synonymous_variant Silent SNP G G A Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000241052.4:c.159G>A p.Gln53= p.Q53= ENST00000241052 NM_001752.3 53 caG/caA 0 Silent G 35 CAT SNP 11 G A 34427407 34427407 WashU FAT3 120114 genome.wustl.edu GRCh37 11 92600264 92600264 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000298047.6:c.12016G>A p.Ala4006Thr p.A4006T ENST00000298047 4006 Gcg/Acg 0 Missense_Mutation G 38 FAT3 SNP 11 G A 92239912 92239912 WashU LRRK2 120892 genome.wustl.edu GRCh37 12 40699656 40699656 + missense_variant Missense_Mutation SNP T T A Unknown TCGA-13-0795-01 TCGA-13-0795-10 T T T A T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000298910.7:c.3847T>A p.Ser1283Thr p.S1283T ENST00000298910 NM_198578.3 1283 Tcc/Acc 0 Missense_Mutation T 50 LRRK2 SNP 12 T A 38985923 38985923 WashU GLIPR1 11010 genome.wustl.edu GRCh37 12 75884247 75884247 + missense_variant Missense_Mutation SNP G G T Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000266659.3:c.482G>T p.Gly161Val p.G161V ENST00000266659 NM_006851.2 161 gGc/gTc 0 Missense_Mutation G 42 GLIPR1 SNP 12 G T 74170514 74170514 WashU TTN 7273 genome.wustl.edu GRCh37 2 179592405 179592405 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.19900T>G p.Tyr6634Asp p.Y6634D ENST00000589042 NM_001267550.1 6634 Tac/Gac 0 Missense_Mutation A 15 TTN SNP 2 A C 179300650 179300650 WashU TTN 7273 genome.wustl.edu GRCh37 2 179592407 179592407 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.19898T>G p.Leu6633Arg p.L6633R ENST00000589042 NM_001267550.1 6633 cTc/cGc 0 Missense_Mutation A 11 TTN SNP 2 A C 179300652 179300652 WashU SLC51A 200931 genome.wustl.edu GRCh37 3 195959313 195959313 + synonymous_variant Silent SNP A A C Unknown TCGA-13-0795-01 TCGA-13-0795-10 A A A C A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000296327.5:c.804A>C p.Leu268= p.L268= ENST00000296327 NM_152672.5 268 ctA/ctC 0 Silent A 14 OSTalpha SNP 3 A C 197443710 197443710 WashU BNIP1 662 genome.wustl.edu GRCh37 5 172571575 172571575 + synonymous_variant Silent SNP C C T Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000231668.9:c.27C>T p.Val9= p.V9= ENST00000231668 NM_013979.2 9 gtC/gtT 0 Missense_Mutation C 30 LOC100128619 SNP 5 C T 172504181 172504181 WashU ERAP1 51752 genome.wustl.edu GRCh37 5 96121496 96121496 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296754.3:c.1939G>A p.Val647Ile p.V647I ENST00000296754 NM_016442.3 647 Gtc/Atc 0 Missense_Mutation C 19 ERAP1 SNP 5 C T 96147252 96147252 WashU HIST1H1C 3006 genome.wustl.edu GRCh37 6 26056015 26056015 + stop_lost Nonstop_Mutation SNP C C G Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C G C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000343677.2:c.642G>C p.Ter214TyrextTer6 p.*214Yext*6 ENST00000343677 NM_005319.3 214 taG/taC 0 Nonsense_Mutation C 24 HIST1H1C SNP 6 C G 26163994 26163994 WashU MGAM 8972 genome.wustl.edu GRCh37 7 141759305 141759305 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000549489.2:c.3853C>A p.Arg1285= p.R1285= ENST00000549489 NM_004668.2 1285 Cgg/Agg 0 Silent C 27 MGAM SNP 7 C A 141405774 141405774 WashU PRKDC 5591 genome.wustl.edu GRCh37 8 48746759 48746759 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314191.2:c.8147A>G p.Lys2716Arg p.K2716R ENST00000314191 NM_006904.6 2716 aAa/aGa 0 Missense_Mutation T 64 PRKDC SNP 8 T C 48909312 48909312 WashU RAB40AL 282808 genome.wustl.edu GRCh37 X 102192455 102192456 + missense_variant Missense_Mutation DNP CG CG TT novel Unknown TCGA-13-0795-01 TCGA-13-0795-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000218249.5:c.209_210delinsTT p.Thr70Ile p.T70I ENST00000218249 NM_001031834.1 70 aCG/aTT 0 Missense CG 19 RAB40AL DNP 23 CG TT 102079112 102079111 WashU USP25 29761 genome.wustl.edu GRCh37 21 17250151 17250151 + missense_variant Missense_Mutation SNP G G C Unknown TCGA-13-0795-01 TCGA-13-0795-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000285679.6:c.2836G>C p.Gly946Arg p.G946R ENST00000285679 NM_013396.3 946 Gga/Cga 0 Missense_Mutation G 47 USP25 SNP 21 G C 16172022 16172022 WashU NKAPL 222698 genome.wustl.edu GRCh37 6 28227718 28227718 + missense_variant Missense_Mutation SNP A A G Unknown TCGA-13-0795-01 TCGA-13-0795-10 A A A G A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000343684.3:c.569A>G p.Lys190Arg p.K190R ENST00000343684 NM_001007531.2 190 aAg/aGg 0 Missense_Mutation A 3 NKAPL SNP 6 A G 28335697 28335697 WashU PDPN 10630 broad.mit.edu GRCh37 1 13936939 13936939 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000294489.6:c.487G>C p.Glu163Gln p.E163Q ENST00000294489 163 Gaa/Caa 0 Missense_Mutation G 33 PDPN SNP 1 G C 13809526 13809526 Broad FMO5 2330 broad.mit.edu GRCh37 1 146672824 146672824 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000254090.4:c.1093A>C p.Thr365Pro p.T365P ENST00000254090 NM_001461.3 365 Act/Cct 0 Missense_Mutation T 60 FMO5 SNP 1 T G 145139448 145139448 Broad FCRL2 79368 broad.mit.edu GRCh37 1 157718737 157718737 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000361516.3:c.1321C>T p.Pro441Ser p.P441S ENST00000361516 NM_030764.3 441 Cca/Tca 0 Missense_Mutation G 42 FCRL2 SNP 1 G A 155985361 155985361 Broad AKR1C1 1645 broad.mit.edu GRCh37 10 5008131 5008131 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000380872.4:c.110C>A p.Ala37Asp p.A37D ENST00000380872 NM_001353.5 37 gCc/gAc 0 Missense_Mutation C 26 AKR1C1 SNP 10 C A 4998131 4998131 Broad ZNF33A 7581 broad.mit.edu GRCh37 10 38344561 38344561 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000374618.3:c.1509G>C p.Gly503= p.G503= ENST00000374618 NM_001278178.1 503 ggG/ggC 0 Silent G 41 ZNF33A SNP 10 G C 38384567 38384567 Broad HSPA12A 259217 broad.mit.edu GRCh37 10 118434748 118434748 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000369209.3:c.1572C>T p.Asp524= p.D524= ENST00000369209 NM_025015.2 524 gaC/gaT 0 Silent G 44 HSPA12A SNP 10 G A 118424738 118424738 Broad AHNAK 79026 broad.mit.edu GRCh37 11 62298690 62298690 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000378024.4:c.3199A>G p.Met1067Val p.M1067V ENST00000378024 NM_001620.2 1067 Atg/Gtg 0 Missense_Mutation T 50 AHNAK SNP 11 T C 62055266 62055266 Broad KCNA1 3736 broad.mit.edu GRCh37 12 5021549 5021549 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000382545.3:c.1005C>T p.Ile335= p.I335= ENST00000382545 NM_000217.2 335 atC/atT 0 Silent C 31 KCNA1 SNP 12 C T 4891810 4891810 Broad MAPKAPK5 8550 broad.mit.edu GRCh37 12 112318333 112318333 + splice_donor_variant Splice_Site SNP T T A novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000551404.2:c.660+2T>A p.X220_splice ENST00000551404 0 Splice_Site_SNP T 57 MAPKAPK5 SNP 12 T A 110802716 110802716 Broad SKA3 221150 broad.mit.edu GRCh37 13 21750551 21750551 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000314759.5:c.66G>A p.Thr22= p.T22= ENST00000314759 NM_145061.5 22 acG/acA 0 Silent C 23 SKA3 SNP 13 C T 20648551 20648551 Broad POTEB2 100287399 broad.mit.edu GRCh37 15 21071473 21071473 + synonymous_variant Silent SNP A A T rs28566570 Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000454856.4:c.138T>A p.Ser46= p.S46= ENST00000454856 NM_001277303.1 46 tcT/tcA 0 Silent A 7 POTEB SNP 15 A T 19336052 19336052 Broad HERC2 8924 broad.mit.edu GRCh37 15 28459027 28459027 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000261609.7:c.6647G>A p.Arg2216His p.R2216H ENST00000261609 NM_004667.5 2216 cGc/cAc 0 Missense_Mutation C 27 HERC2 SNP 15 C T 26132622 26132622 Broad FHOD1 29109 broad.mit.edu GRCh37 16 67281301 67281301 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000258201.4:c.13G>T p.Glu5Ter p.E5* ENST00000258201 NM_013241.2 5 Gaa/Taa 0 Nonsense_Mutation C 30 FHOD1 SNP 16 C A 65838802 65838802 Broad PKD1L2 114780 broad.mit.edu GRCh37 16 81187943 81187943 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000525539.1:c.4126G>T p.Val1376Leu p.V1376L ENST00000525539 NM_052892.3 1376 Gtg/Ttg 0 Missense_Mutation C 18 PKD1L2 SNP 16 C A 79745444 79745444 Broad TP53 7157 broad.mit.edu GRCh37 17 7578266 7578266 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.583A>T p.Ile195Phe p.I195F ENST00000269305 NM_001126112.2 195 Atc/Ttc 0 Missense_Mutation T 49 TP53 SNP 17 T A 7518991 7518991 Broad CDK12 51755 broad.mit.edu GRCh37 17 37627889 37627889 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000447079.4:c.1804C>T p.Gln602Ter p.Q602* ENST00000447079 NM_015083.1 602 Cag/Tag 0 Nonsense_Mutation C 29 CDK12 SNP 17 C T 34881415 34881415 Broad WDR7 23335 broad.mit.edu GRCh37 18 54363571 54363571 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000254442.3:c.1456A>C p.Ile486Leu p.I486L ENST00000254442 NM_015285.2 486 Ata/Cta 0 Missense_Mutation A 12 WDR7 SNP 18 A C 52514569 52514569 Broad ZSWIM4 65249 broad.mit.edu GRCh37 19 13915878 13915878 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000254323.2:c.628G>T p.Ala210Ser p.A210S ENST00000254323 NM_023072.2 210 Gcc/Tcc 0 Missense_Mutation G 38 ZSWIM4 SNP 19 G T 13776878 13776878 Broad ATP13A1 57130 broad.mit.edu GRCh37 19 19767522 19767522 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000357324.6:c.1030C>T p.Arg344Cys p.R344C ENST00000357324 NM_020410.2 344 Cgc/Tgc 0 Missense_Mutation G 39 ATP13A1 SNP 19 G A 19628522 19628522 Broad ZNF43 7594 broad.mit.edu GRCh37 19 21990499 21990499 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000354959.4:c.2340T>G p.His780Gln p.H780Q ENST00000354959 NM_003423.3 780 caT/caG 0 Missense_Mutation A 16 ZNF43 SNP 19 A C 21782339 21782339 Broad ZNF473 25888 broad.mit.edu GRCh37 19 50549780 50549780 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000595661.1:c.2080C>T p.Arg694Ter p.R694* ENST00000595661 694 Cga/Tga 0 Nonsense_Mutation C 27 ZNF473 SNP 19 C T 55241592 55241592 Broad SYT3 84258 broad.mit.edu GRCh37 19 51135643 51135643 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000338916.4:c.574G>T p.Gly192Trp p.G192W ENST00000338916 NM_032298.2 192 Ggg/Tgg 0 Missense_Mutation C 22 SYT3 SNP 19 C A 55827455 55827455 Broad ZNF665 79788 broad.mit.edu GRCh37 19 53668970 53668970 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000396424.3:c.773G>T p.Gly258Val p.G258V ENST00000396424 NM_024733.3 258 gGa/gTa 0 Missense_Mutation C 30 ZNF665 SNP 19 C A 58360782 58360782 Broad GPR113 165082 broad.mit.edu GRCh37 2 26533688 26533688 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000311519.1:c.2908G>C p.Gly970Arg p.G970R ENST00000311519 NM_001145168.1 970 Ggg/Cgg 0 Missense_Mutation C 22 GPR113 SNP 2 C G 26387192 26387192 Broad CRNKL1 51340 broad.mit.edu GRCh37 20 20031249 20031249 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000377340.2:c.552G>A p.Pro184= p.P184= ENST00000377340 NM_016652.5 184 ccG/ccA 0 Silent C 23 CRNKL1 SNP 20 C T 19979249 19979249 Broad COMT 1312 broad.mit.edu GRCh37 22 19951093 19951093 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000361682.6:c.294G>A p.Lys98= p.K98= ENST00000361682 NM_000754.3 98 aaG/aaA 0 Silent G 33 COMT SNP 22 G A 18331093 18331093 Broad SETMAR 6419 broad.mit.edu GRCh37 3 4354990 4354990 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000358065.4:c.565G>A p.Asp189Asn p.D189N ENST00000358065 NM_006515.3 189 Gac/Aac 0 Missense_Mutation G 37 SETMAR SNP 3 G A 4329990 4329990 Broad LRRC3B 116135 broad.mit.edu GRCh37 3 26751758 26751758 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000396641.2:c.595A>G p.Lys199Glu p.K199E ENST00000396641 NM_052953.2 199 Aaa/Gaa 0 Missense_Mutation A 13 LRRC3B SNP 3 A G 26726762 26726762 Broad SI 6476 broad.mit.edu GRCh37 3 164741407 164741407 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000264382.3:c.3050C>A p.Thr1017Asn p.T1017N ENST00000264382 NM_001041.3 1017 aCt/aAt 0 Missense_Mutation G 36 SI SNP 3 G T 166224101 166224101 Broad MECOM 2122 broad.mit.edu GRCh37 3 168834236 168834236 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264674.3:c.1055A>T p.His352Leu p.H352L ENST00000264674 NM_001105077.3 352 cAt/cTt 0 Missense_Mutation T 51 MECOM SNP 3 T A 170316930 170316930 Broad PPARGC1A 10891 broad.mit.edu GRCh37 4 23816064 23816064 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264867.2:c.1042G>A p.Gly348Arg p.G348R ENST00000264867 NM_013261.3 348 Ggg/Agg 0 Missense_Mutation C 24 PPARGC1A SNP 4 C T 23425162 23425162 Broad SEC31A 22872 broad.mit.edu GRCh37 4 83770050 83770050 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000395310.2:c.2409G>A p.Pro803= p.P803= ENST00000395310 NM_001077207.2 803 ccG/ccA 0 Silent C 19 SEC31A SNP 4 C T 83989074 83989074 Broad DCHS2 54798 broad.mit.edu GRCh37 4 155219030 155219030 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000357232.4:c.5071G>C p.Gly1691Arg p.G1691R ENST00000357232 NM_017639.3 1691 Ggg/Cgg 0 Missense_Mutation C 24 DCHS2 SNP 4 C G 155438480 155438480 Broad TRIM7 81786 broad.mit.edu GRCh37 5 180627010 180627010 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000274773.7:c.690G>A p.Gln230= p.Q230= ENST00000274773 NM_203293.2 230 caG/caA 0 Silent C 24 TRIM7 SNP 5 C T 180559616 180559616 Broad HLA-DPB1 3115 broad.mit.edu GRCh37 6 33043849 33043849 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000418931.2:c.31C>A p.Arg11= p.R11= ENST00000418931 NM_002121.5 11 Cgg/Agg 0 Silent C 23 HLA-DPB1 SNP 6 C A 33151827 33151827 Broad T 6862 broad.mit.edu GRCh37 6 166571861 166571861 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000296946.2:c.1250C>T p.Ala417Val p.A417V ENST00000296946 NM_003181.3 417 gCc/gTc 0 Missense_Mutation G 42 T SNP 6 G A 166491851 166491851 Broad CHPF2 54480 broad.mit.edu GRCh37 7 150934694 150934694 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000035307.2:c.1246C>T p.Arg416Trp p.R416W ENST00000035307 NM_019015.1 416 Cgg/Tgg 0 Missense_Mutation C 31 CHPF2 SNP 7 C T 150565627 150565627 Broad PEX2 5828 broad.mit.edu GRCh37 8 77896009 77896009 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000419564.2:c.406A>T p.Lys136Ter p.K136* ENST00000419564 NM_001172087.1 136 Aag/Tag 0 Nonsense_Mutation T 63 PEX2 SNP 8 T A 78058564 78058564 Broad FRMD3 257019 broad.mit.edu GRCh37 9 85958175 85958175 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000304195.3:c.402G>A p.Arg134= p.R134= ENST00000304195 NM_001244960.1 134 agG/agA 0 Silent C 22 FRMD3 SNP 9 C T 85147995 85147995 Broad AMER1 139285 broad.mit.edu GRCh37 X 63411597 63411597 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000330258.3:c.1570T>A p.Cys524Ser p.C524S ENST00000330258 NM_152424.3 524 Tgc/Agc 0 Missense_Mutation A 7 FAM123B SNP 23 A T 63328322 63328322 Broad CPXCR1 53336 broad.mit.edu GRCh37 X 88008812 88008812 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000276127.4:c.397C>T p.Arg133Ter p.R133* ENST00000276127 NM_033048.5 133 Cga/Tga 0 Nonsense_Mutation C 31 CPXCR1 SNP 23 C T 87895468 87895468 Broad RBMX2 51634 broad.mit.edu GRCh37 X 129543288 129543288 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown x x x ENST00000305536.6:c.231A>G p.Lys77= p.K77= ENST00000305536 NM_016024.2 77 aaA/aaG 0 Silent A 3 RBMX2 SNP 23 A G 129370969 129370969 Broad LRIT2 340745 broad.mit.edu GRCh37 10 85982066 85982067 + frameshift_variant Frame_Shift_Ins INS - - CC novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000372113.4:c.1262_1263insGG p.Asp421GlufsTer16 p.D421Efs*16 ENST00000372113 NM_001017924.2 421 gat/gaGGt 0 Frame_Shift_Ins - 8 LRIT2 INS 10 CC - 85972047 85972046 Broad BCDIN3D 144233 broad.mit.edu GRCh37 12 50232433 50232433 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-13-1495-01 TCGA-13-1495-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000333924.4:c.600del p.Trp200Ter p.W200* ENST00000333924 NM_181708.2 200 tgG/tg 0 Frame_Shift_Del C 30 BCDIN3D DEL 12 - C 48518700 48518700 Broad SETDB1 9869 broad.mit.edu GRCh37 1 150923443 150923443 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000271640.5:c.2090T>C p.Ile697Thr p.I697T ENST00000271640 NM_001145415.1 697 aTt/aCt 0 Missense_Mutation T 52 SETDB1 SNP 1 T C 149190067 149190067 Broad OR2B11 127623 broad.mit.edu GRCh37 1 247614505 247614505 + synonymous_variant Silent SNP A A T novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000318749.6:c.780T>A p.Ile260= p.I260= ENST00000318749 NM_001004492.1 260 atT/atA 0 Silent A 1 OR2B11 SNP 1 A T 245681128 245681128 Broad KCNK18 338567 broad.mit.edu GRCh37 10 118960736 118960736 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000334549.1:c.290G>T p.Arg97Met p.R97M ENST00000334549 NM_181840.1 97 aGg/aTg 0 Missense_Mutation G 35 KCNK18 SNP 10 G T 118950726 118950726 Broad AP2A2 161 broad.mit.edu GRCh37 11 994220 994220 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000448903.2:c.1931C>G p.Pro644Arg p.P644R ENST00000448903 NM_012305.3 644 cCt/cGt 0 Missense_Mutation C 24 AP2A2 SNP 11 C G 984220 984220 Broad PAX6 5080 broad.mit.edu GRCh37 11 31815586 31815586 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000419022.1:c.801A>G p.Arg267= p.R267= ENST00000419022 NM_001258462.1 267 agA/agG 0 Silent T 62 PAX6 SNP 11 T C 31772162 31772162 Broad TRAF6 7189 broad.mit.edu GRCh37 11 36511516 36511516 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000526995.1:c.1441G>A p.Ala481Thr p.A481T ENST00000526995 NM_004620.3 481 Gcc/Acc 0 Missense_Mutation C 28 TRAF6 SNP 11 C T 36468092 36468092 Broad AHNAK 79026 broad.mit.edu GRCh37 11 62289131 62289131 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000378024.4:c.12758A>G p.Lys4253Arg p.K4253R ENST00000378024 NM_001620.2 4253 aAa/aGa 0 Missense_Mutation T 64 AHNAK SNP 11 T C 62045707 62045707 Broad NRXN2 9379 broad.mit.edu GRCh37 11 64453370 64453370 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000265459.6:c.900C>T p.Tyr300= p.Y300= ENST00000265459 NM_015080.3 300 taC/taT 0 Silent G 40 NRXN2 SNP 11 G A 64209946 64209946 Broad WSCD2 9671 broad.mit.edu GRCh37 12 108642000 108642000 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000332082.4:c.1578C>T p.Leu526= p.L526= ENST00000332082 526 ctC/ctT 0 Silent C 31 WSCD2 SNP 12 C T 107166130 107166130 Broad TUBA3C 7278 broad.mit.edu GRCh37 13 19751364 19751364 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000400113.3:c.759G>A p.Thr253= p.T253= ENST00000400113 NM_006001.2 253 acG/acA 0 Silent C 23 TUBA3C SNP 13 C T 18649364 18649364 Broad OR11G2 390439 broad.mit.edu GRCh37 14 20666089 20666089 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000357366.3:c.595G>A p.Val199Ile p.V199I ENST00000357366 NM_001005503.1 199 Gtc/Atc 0 Missense_Mutation G 40 OR11G2 SNP 14 G A 19735929 19735929 Broad TEP1 7011 broad.mit.edu GRCh37 14 20869265 20869265 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000262715.5:c.1427G>A p.Arg476His p.R476H ENST00000262715 NM_007110.4 476 cGc/cAc 0 Missense_Mutation C 27 TEP1 SNP 14 C T 19939105 19939105 Broad ERO1L 30001 broad.mit.edu GRCh37 14 53119983 53119983 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000395686.3:c.859C>T p.Arg287Ter p.R287* ENST00000395686 NM_014584.1 287 Cga/Tga 0 Nonsense_Mutation G 38 ERO1L SNP 14 G A 52189733 52189733 Broad TP53 7157 broad.mit.edu GRCh37 17 7578265 7578265 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.584T>C p.Ile195Thr p.I195T ENST00000269305 NM_001126112.2 195 aTc/aCc 0 Missense_Mutation A 12 TP53 SNP 17 A G 7518990 7518990 Broad AP2B1 163 broad.mit.edu GRCh37 17 33968965 33968965 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000312678.8:c.1507G>A p.Val503Ile p.V503I ENST00000312678 NM_001030006.1 503 Gtc/Atc 0 Missense_Mutation G 36 AP2B1 SNP 17 G A 30993078 30993078 Broad ZNF407 55628 broad.mit.edu GRCh37 18 72346771 72346771 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000299687.5:c.3796G>A p.Val1266Ile p.V1266I ENST00000299687 NM_017757.2 1266 Gtt/Att 0 Missense_Mutation G 40 ZNF407 SNP 18 G A 70475759 70475759 Broad SLC25A23 79085 broad.mit.edu GRCh37 19 6456446 6456446 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000301454.4:c.468C>G p.Phe156Leu p.F156L ENST00000301454 NM_024103.2 156 ttC/ttG 0 Missense_Mutation G 33 SLC25A23 SNP 19 G C 6407446 6407446 Broad ZC3H4 23211 broad.mit.edu GRCh37 19 47593269 47593269 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000253048.5:c.670C>G p.Leu224Val p.L224V ENST00000253048 NM_015168.1 224 Ctg/Gtg 0 Missense_Mutation G 34 ZC3H4 SNP 19 G C 52285109 52285109 Broad EHD3 30845 broad.mit.edu GRCh37 2 31483500 31483500 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000322054.5:c.627C>A p.Asn209Lys p.N209K ENST00000322054 NM_014600.2 209 aaC/aaA 0 Missense_Mutation C 18 EHD3 SNP 2 C A 31337004 31337004 Broad TTN 7273 broad.mit.edu GRCh37 2 179516832 179516832 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000589042.1:c.39286C>G p.Pro13096Ala p.P13096A ENST00000589042 NM_001267550.1 13096 Ccc/Gcc 0 Missense_Mutation G 41 TTN SNP 2 G C 179225077 179225077 Broad RFPL2 10739 broad.mit.edu GRCh37 22 32586896 32586896 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000400237.1:c.1000G>A p.Val334Ile p.V334I ENST00000400237 334 Gta/Ata 0 Missense_Mutation C 19 RFPL2 SNP 22 C T 30916896 30916896 Broad TRIOBP 11078 broad.mit.edu GRCh37 22 38121862 38121862 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000406386.3:c.3299C>T p.Ser1100Phe p.S1100F ENST00000406386 NM_001039141.2 1100 tCc/tTc 0 Missense_Mutation C 30 TRIOBP SNP 22 C T 36451808 36451808 Broad MAPK12 6300 broad.mit.edu GRCh37 22 50693771 50693771 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000215659.8:c.879G>A p.Val293= p.V293= ENST00000215659 NM_002969.3 293 gtG/gtA 0 Silent C 25 MAPK12 SNP 22 C T 49035898 49035898 Broad ARSJ 79642 broad.mit.edu GRCh37 4 114824057 114824057 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000315366.7:c.1173G>A p.Gln391= p.Q391= ENST00000315366 NM_024590.3 391 caG/caA 0 Silent C 32 ARSJ SNP 4 C T 115043506 115043506 Broad STOX2 56977 broad.mit.edu GRCh37 4 184931081 184931081 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000308497.4:c.1090C>T p.Arg364Trp p.R364W ENST00000308497 NM_020225.1 364 Cgg/Tgg 0 Missense_Mutation C 31 STOX2 SNP 4 C T 185168075 185168075 Broad PAPD7 11044 broad.mit.edu GRCh37 5 6751185 6751185 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000230859.6:c.1144G>A p.Val382Ile p.V382I ENST00000230859 NM_001171805.1 382 Gtt/Att 0 Missense_Mutation G 48 PAPD7 SNP 5 G A 6804185 6804185 Broad RASGRF2 5924 broad.mit.edu GRCh37 5 80363981 80363981 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000265080.4:c.526G>A p.Glu176Lys p.E176K ENST00000265080 NM_006909.2 176 Gaa/Aaa 0 Missense_Mutation G 37 RASGRF2 SNP 5 G A 80399737 80399737 Broad APC 324 broad.mit.edu GRCh37 5 112176937 112176937 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000257430.4:c.5646A>T p.Arg1882Ser p.R1882S ENST00000257430 NM_000038.5 1882 agA/agT 0 Missense_Mutation A 9 APC SNP 5 A T 112204836 112204836 Broad PCDHB11 56125 broad.mit.edu GRCh37 5 140580729 140580729 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000354757.3:c.1382G>A p.Arg461His p.R461H ENST00000354757 NM_018931.2 461 cGc/cAc 0 Missense_Mutation G 38 PCDHB11 SNP 5 G A 140560913 140560913 Broad PKHD1 5314 broad.mit.edu GRCh37 6 51941121 51941121 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000371117.3:c.401C>T p.Ala134Val p.A134V ENST00000371117 NM_138694.3 134 gCg/gTg 0 Missense_Mutation G 38 PKHD1 SNP 6 G A 52049080 52049080 Broad LTV1 84946 broad.mit.edu GRCh37 6 144167244 144167244 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000367576.5:c.192C>T p.Asp64= p.D64= ENST00000367576 NM_032860.3 64 gaC/gaT 0 Silent C 19 LTV1 SNP 6 C T 144208937 144208937 Broad LAMB1 3912 broad.mit.edu GRCh37 7 107616272 107616272 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000222399.6:c.1051T>C p.Tyr351His p.Y351H ENST00000222399 NM_002291.2 351 Tac/Cac 0 Missense_Mutation A 13 LAMB1 SNP 7 A G 107403508 107403508 Broad CFTR 1080 broad.mit.edu GRCh37 7 117182111 117182111 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000003084.6:c.1158C>G p.Asn386Lys p.N386K ENST00000003084 NM_000492.3 386 aaC/aaG 0 Missense_Mutation C 20 CFTR SNP 7 C G 116969347 116969347 Broad NUP205 23165 broad.mit.edu GRCh37 7 135287718 135287718 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000285968.6:c.2678C>T p.Ala893Val p.A893V ENST00000285968 NM_015135.2 893 gCa/gTa 0 Missense_Mutation C 25 NUP205 SNP 7 C T 134938258 134938258 Broad TMEM139 135932 broad.mit.edu GRCh37 7 142983749 142983749 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000359333.3:c.478C>G p.Pro160Ala p.P160A ENST00000359333 NM_001282876.1 160 Cca/Gca 0 Missense_Mutation C 30 TMEM139 SNP 7 C G 142693871 142693871 Broad EPHA1 2041 broad.mit.edu GRCh37 7 143098564 143098564 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000275815.3:c.285C>T p.Val95= p.V95= ENST00000275815 NM_005232.4 95 gtC/gtT 0 Silent G 41 EPHA1 SNP 7 G A 142808686 142808686 Broad GPR173 54328 broad.mit.edu GRCh37 X 53106090 53106090 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000332582.4:c.287G>T p.Cys96Phe p.C96F ENST00000332582 NM_018969.5 96 tGc/tTc 0 Missense_Mutation G 46 GPR173 SNP 23 G T 53122815 53122815 Broad ABCB7 22 broad.mit.edu GRCh37 X 74295252 74295252 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown x x x ENST00000253577.3:c.803T>C p.Leu268Ser p.L268S ENST00000253577 NM_001271696.1 268 tTg/tCg 0 Missense_Mutation A 5 ABCB7 SNP 23 A G 74211977 74211977 Broad KNTC1 9735 broad.mit.edu GRCh37 12 123089592 123089595 + frameshift_variant Frame_Shift_Del DEL ATCA ATCA - novel Unknown TCGA-61-1919-01 TCGA-61-1919-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000333479.7:c.5349_5352del p.Asn1783LysfsTer21 p.N1783Kfs*21 ENST00000333479 NM_014708.4 1782 ATCAat/at 0 Frame_Shift_Del ATCA 8 KNTC1 DEL 12 - ATCA 121655548 121655545 Broad PADI6 353238 broad.mit.edu GRCh37 1 17721513 17721513 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000434762.2:n.1455G>A *485* ENST00000434762 0 Silent G 39 PADI6 SNP 1 G A 17594100 17594100 Broad MRTO4 51154 broad.mit.edu GRCh37 1 19585030 19585030 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000330263.4:c.553G>A p.Glu185Lys p.E185K ENST00000330263 NM_016183.3 185 Gag/Aag 0 Missense_Mutation G 33 MRTO4 SNP 1 G A 19457617 19457617 Broad CNKSR1 10256 broad.mit.edu GRCh37 1 26514727 26514727 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000361530.6:c.1457G>A p.Trp486Ter p.W486* ENST00000361530 486 tGg/tAg 0 Nonsense_Mutation G 47 CNKSR1 SNP 1 G A 26387314 26387314 Broad FABP3 2170 broad.mit.edu GRCh37 1 31845817 31845817 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000373713.2:c.45G>A p.Lys15= p.K15= ENST00000373713 NM_004102.3 15 aaG/aaA 0 Silent C 32 FABP3 SNP 1 C T 31618404 31618404 Broad KIAA0754 23499 broad.mit.edu GRCh37 1 39877339 39877339 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000530275.1:c.994C>T p.Leu332Phe p.L332F ENST00000530275 NM_015038.1 332 Ctt/Ttt 0 Missense_Mutation C 32 KIAA0754 SNP 1 C T 39649926 39649926 Broad PAPPA2 60676 broad.mit.edu GRCh37 1 176664927 176664927 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000367662.3:c.2678A>G p.Tyr893Cys p.Y893C ENST00000367662 NM_020318.2 893 tAt/tGt 0 Missense_Mutation A 16 PAPPA2 SNP 1 A G 174931550 174931550 Broad LAMC1 3915 broad.mit.edu GRCh37 1 183111876 183111876 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000258341.4:c.4781A>C p.Lys1594Thr p.K1594T ENST00000258341 NM_002293.3 1594 aAg/aCg 0 Missense_Mutation A 3 LAMC1 SNP 1 A C 181378499 181378499 Broad OR2M5 127059 broad.mit.edu GRCh37 1 248308539 248308539 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000366476.1:c.90G>T p.Leu30= p.L30= ENST00000366476 NM_001004690.1 30 ctG/ctT 0 Silent G 47 OR2M5 SNP 1 G T 246375162 246375162 Broad ZNF488 118738 broad.mit.edu GRCh37 10 48371533 48371533 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000395702.2:c.1001G>A p.Arg334Gln p.R334Q ENST00000395702 334 cGg/cAg 0 Missense_Mutation G 39 ZNF488 SNP 10 G A 47991539 47991539 Broad ARID5B 84159 broad.mit.edu GRCh37 10 63852465 63852465 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000279873.7:c.3243G>C p.Leu1081= p.L1081= ENST00000279873 NM_032199.2 1081 ctG/ctC 0 Silent G 48 ARID5B SNP 10 G C 63522471 63522471 Broad ZNF365 22891 broad.mit.edu GRCh37 10 64136532 64136532 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000410046.3:c.580C>A p.Leu194Met p.L194M ENST00000410046 NM_199451.2 194 Ctg/Atg 0 Missense_Mutation C 20 ZNF365 SNP 10 C A 63806538 63806538 Broad ZSWIM8 23053 broad.mit.edu GRCh37 10 75553932 75553932 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000398706.2:c.2653G>A p.Val885Met p.V885M ENST00000398706 NM_015037.3 885 Gtg/Atg 0 Missense_Mutation G 44 KIAA0913 SNP 10 G A 75223938 75223938 Broad EMX2 2018 broad.mit.edu GRCh37 10 119302954 119302954 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000553456.3:c.176C>T p.Ala59Val p.A59V ENST00000553456 NM_004098.3 59 gCc/gTc 0 Missense_Mutation C 26 EMX2 SNP 10 C T 119292944 119292944 Broad OR5L2 26338 broad.mit.edu GRCh37 11 55595502 55595502 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000378397.1:c.808G>A p.Val270Ile p.V270I ENST00000378397 NM_001004739.1 270 Gtt/Att 0 Missense_Mutation G 48 OR5L2 SNP 11 G A 55352078 55352078 Broad MMP8 4317 broad.mit.edu GRCh37 11 102585343 102585343 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000236826.3:c.1134C>T p.Asp378= p.D378= ENST00000236826 NM_002424.2 378 gaC/gaT 0 Silent G 40 MMP8 SNP 11 G A 102090553 102090553 Broad PRMT8 56341 broad.mit.edu GRCh37 12 3659196 3659196 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000382622.3:c.356G>C p.Gly119Ala p.G119A ENST00000382622 NM_019854.4 119 gGg/gCg 0 Missense_Mutation G 43 PRMT8 SNP 12 G C 3529457 3529457 Broad LTBR 4055 broad.mit.edu GRCh37 12 6499840 6499840 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000228918.4:c.1045C>T p.His349Tyr p.H349Y ENST00000228918 NM_002342.2 349 Cat/Tat 0 Missense_Mutation C 29 LTBR SNP 12 C T 6370101 6370101 Broad SLC22A17 51310 broad.mit.edu GRCh37 14 23816823 23816823 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000397267.1:c.1062C>G p.Phe354Leu p.F354L ENST00000397267 354 ttC/ttG 0 Missense_Mutation G 41 SLC22A17 SNP 14 G C 22886663 22886663 Broad TTC7B 145567 broad.mit.edu GRCh37 14 91196448 91196448 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000328459.6:c.669G>A p.Gln223= p.Q223= ENST00000328459 NM_001010854.1 223 caG/caA 0 Silent C 32 TTC7B SNP 14 C T 90266201 90266201 Broad GJD2 57369 broad.mit.edu GRCh37 15 35045515 35045515 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000290374.4:c.130A>G p.Thr44Ala p.T44A ENST00000290374 NM_020660.2 44 Acg/Gcg 0 Missense_Mutation T 58 GJD2 SNP 15 T C 32832807 32832807 Broad GNG13 51764 broad.mit.edu GRCh37 16 849054 849054 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000248150.4:c.24G>C p.Gln8His p.Q8H ENST00000248150 NM_016541.2 8 caG/caC 0 Missense_Mutation C 32 GNG13 SNP 16 C G 789055 789055 Broad SLC12A4 6560 broad.mit.edu GRCh37 16 67984375 67984375 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000422611.2:c.1482G>A p.Arg494= p.R494= ENST00000422611 NM_001145962.1 494 agG/agA 0 Silent C 30 SLC12A4 SNP 16 C T 66541876 66541876 Broad TBX2 6909 broad.mit.edu GRCh37 17 59485672 59485672 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000240328.3:c.1944C>T p.Ala648= p.A648= ENST00000240328 NM_005994.3 648 gcC/gcT 0 Silent C 23 TBX2 SNP 17 C T 56840454 56840454 Broad PRTN3 5657 broad.mit.edu GRCh37 19 843898 843898 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000234347.5:c.233A>G p.Gln78Arg p.Q78R ENST00000234347 NM_002777.3 78 cAg/cGg 0 Missense_Mutation A 7 PRTN3 SNP 19 A G 794898 794898 Broad CPAMD8 27151 broad.mit.edu GRCh37 19 17039019 17039019 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000443236.1:c.3311A>G p.Asn1104Ser p.N1104S ENST00000443236 NM_015692.2 1104 aAt/aGt 0 Missense_Mutation T 52 CPAMD8 SNP 19 T C 16900019 16900019 Broad ITPKC 80271 broad.mit.edu GRCh37 19 41235196 41235196 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000263370.2:c.1345C>G p.Leu449Val p.L449V ENST00000263370 NM_025194.2 449 Ctg/Gtg 0 Missense_Mutation C 28 ITPKC SNP 19 C G 45927036 45927036 Broad LMTK3 114783 broad.mit.edu GRCh37 19 49000792 49000794 + missense_variant Missense_Mutation TNP GGG GGG TTT novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000270238.3:c.3619_3621delinsAAA p.Pro1207Lys p.P1207K ENST00000270238 NM_001080434.1 1207 CCC/AAA 0 Missense_Mutation GGG 39 LMTK3 TNP 19 GGG TTT 53692606 53692604 Broad GYS1 2997 broad.mit.edu GRCh37 19 49489140 49489140 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000323798.3:c.645C>T p.Ala215= p.A215= ENST00000323798 NM_002103.4 215 gcC/gcT 0 Silent G 39 GYS1 SNP 19 G A 54180952 54180952 Broad NOSIP 51070 broad.mit.edu GRCh37 19 50059680 50059680 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000391853.3:c.728G>A p.Gly243Glu p.G243E ENST00000391853 NM_015953.4 243 gGg/gAg 0 Missense_Mutation C 22 NOSIP SNP 19 C T 54751492 54751492 Broad PRMT1 3276 broad.mit.edu GRCh37 19 50189896 50189896 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000454376.2:c.945G>A p.Thr315= p.T315= ENST00000454376 NM_001536.5 315 acG/acA 0 Silent G 39 PRMT1 SNP 19 G A 54881708 54881708 Broad NLRP5 126206 broad.mit.edu GRCh37 19 56538818 56538818 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000390649.3:c.1219G>A p.Val407Ile p.V407I ENST00000390649 NM_153447.4 407 Gtc/Atc 0 Missense_Mutation G 40 NLRP5 SNP 19 G A 61230630 61230630 Broad GREB1 9687 broad.mit.edu GRCh37 2 11777935 11777935 + synonymous_variant Silent SNP C C T rs34955282 byCluster;byFrequency TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000381486.2:c.5440C>T p.Leu1814= p.L1814= ENST00000381486 NM_014668.3 1814 Ctg/Ttg 0 Silent C 28 GREB1 SNP 2 C T 11695386 11695386 Broad DDX1 1653 broad.mit.edu GRCh37 2 15760383 15760383 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000381341.2:c.1258G>A p.Glu420Lys p.E420K ENST00000381341 420 Gag/Aag 0 Missense_Mutation G 37 DDX1 SNP 2 G A 15677834 15677834 Broad KIF3C 3797 broad.mit.edu GRCh37 2 26204478 26204478 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000264712.3:c.309G>A p.Lys103= p.K103= ENST00000264712 NM_002254.6 103 aaG/aaA 0 Silent C 32 KIF3C SNP 2 C T 26057982 26057982 Broad ATP6V1E2 90423 broad.mit.edu GRCh37 2 46739447 46739447 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000306448.4:c.404G>A p.Arg135His p.R135H ENST00000306448 NM_080653.3 135 cGc/cAc 0 Missense_Mutation C 27 ATP6V1E2 SNP 2 C T 46592951 46592951 Broad MARS2 92935 broad.mit.edu GRCh37 2 198571199 198571199 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000282276.6:c.1070A>C p.Asp357Ala p.D357A ENST00000282276 NM_138395.3 357 gAt/gCt 0 Missense_Mutation A 12 MARS2 SNP 2 A C 198279444 198279444 Broad ALS2CR12 130540 broad.mit.edu GRCh37 2 202208956 202208956 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000405148.2:c.399A>C p.Gln133His p.Q133H ENST00000405148 NM_139163.2 133 caA/caC 0 Missense_Mutation T 64 ALS2CR12 SNP 2 T G 201917201 201917201 Broad IRS1 3667 broad.mit.edu GRCh37 2 227663087 227663088 + missense_variant Missense_Mutation DNP CC CC TT novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000305123.5:c.367_368delinsAA p.Gly123Lys p.G123K ENST00000305123 NM_005544.2 123 GGa/AAa 0 Missense_Mutation CC 30 IRS1 DNP 2 CC TT 227371332 227371331 Broad KIF1A 547 broad.mit.edu GRCh37 2 241685237 241685237 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000498729.2:c.3292G>T p.Gly1098Cys p.G1098C ENST00000498729 NM_001244008.1 1098 Ggc/Tgc 0 Missense_Mutation C 22 KIF1A SNP 2 C A 241333910 241333910 Broad MC3R 4159 broad.mit.edu GRCh37 20 54824044 54824044 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000243911.2:c.145G>C p.Gly49Arg p.G49R ENST00000243911 NM_019888.3 49 Ggc/Cgc 0 Missense_Mutation G 43 MC3R SNP 20 G C 54257451 54257451 Broad RBM38 55544 broad.mit.edu GRCh37 20 55967738 55967738 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000356208.5:c.266A>G p.Glu89Gly p.E89G ENST00000356208 NM_017495.5 89 gAg/gGg 0 Missense_Mutation A 11 RBM38 SNP 20 A G 55401144 55401144 Broad ZGPAT 84619 broad.mit.edu GRCh37 20 62340348 62340348 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000328969.5:c.416A>C p.Tyr139Ser p.Y139S ENST00000328969 NM_032527.4 139 tAc/tCc 0 Missense_Mutation A 14 ZGPAT SNP 20 A C 61810792 61810792 Broad SAMD10 140700 broad.mit.edu GRCh37 20 62607099 62607099 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000369886.3:c.532G>T p.Val178Leu p.V178L ENST00000369886 NM_080621.4 178 Gtg/Ttg 0 Missense_Mutation C 18 SAMD10 SNP 20 C A 62077543 62077543 Broad ENTHD1 150350 broad.mit.edu GRCh37 22 40283747 40283747 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000325157.6:c.6G>A p.Ala2= p.A2= ENST00000325157 NM_152512.3 2 gcG/gcA 0 Silent C 19 ENTHD1 SNP 22 C T 38613693 38613693 Broad CHKB 1120 broad.mit.edu GRCh37 22 51019979 51019979 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000406938.2:c.451C>A p.Arg151= p.R151= ENST00000406938 NM_005198.4 151 Cgg/Agg 0 Silent G 37 CHKB SNP 22 G T 49366845 49366845 Broad ZCWPW2 152098 broad.mit.edu GRCh37 3 28454696 28454696 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000383768.2:c.137G>T p.Ser46Ile p.S46I ENST00000383768 46 aGt/aTt 0 Missense_Mutation G 36 ZCWPW2 SNP 3 G T 28429700 28429700 Broad ROBO1 6091 broad.mit.edu GRCh37 3 78649379 78649379 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000464233.1:c.4825T>A p.Ser1609Thr p.S1609T ENST00000464233 NM_002941.3 1609 Tca/Aca 0 Missense_Mutation A 12 ROBO1 SNP 3 A T 78732069 78732069 Broad CHST2 9435 broad.mit.edu GRCh37 3 142840592 142840592 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000309575.3:c.934G>A p.Ala312Thr p.A312T ENST00000309575 NM_004267.4 312 Gcg/Acg 0 Missense_Mutation G 42 CHST2 SNP 3 G A 144323282 144323282 Broad MFSD7 84179 broad.mit.edu GRCh37 4 680353 680353 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000322224.4:c.262T>G p.Trp88Gly p.W88G ENST00000322224 88 Tgg/Ggg 0 Missense_Mutation A 7 MFSD7 SNP 4 A C 670353 670353 Broad HTRA3 94031 broad.mit.edu GRCh37 4 8295868 8295868 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000307358.2:c.991G>A p.Ala331Thr p.A331T ENST00000307358 NM_053044.3 331 Gcc/Acc 0 Missense_Mutation G 46 HTRA3 SNP 4 G A 8346768 8346768 Broad CABS1 85438 broad.mit.edu GRCh37 4 71200994 71200994 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000273936.5:c.238G>C p.Asp80His p.D80H ENST00000273936 NM_033122.3 80 Gat/Cat 0 Missense_Mutation G 45 C4orf35 SNP 4 G C 71235583 71235583 Broad PCDHA8 56140 broad.mit.edu GRCh37 5 140221935 140221935 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000531613.1:c.1029A>C p.Lys343Asn p.K343N ENST00000531613 NM_018911.2 343 aaA/aaC 0 Missense_Mutation A 1 PCDHA8 SNP 5 A C 140202119 140202119 Broad PCDHB5 26167 broad.mit.edu GRCh37 5 140516545 140516545 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000231134.5:c.1529G>A p.Gly510Asp p.G510D ENST00000231134 NM_015669.2 510 gGc/gAc 0 Missense_Mutation G 42 PCDHB5 SNP 5 G A 140496729 140496729 Broad C5orf45 51149 broad.mit.edu GRCh37 5 179264682 179264682 + synonymous_variant Silent SNP T T A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000292586.6:c.741A>T p.Pro247= p.P247= ENST00000292586 NM_016175.3 247 ccA/ccT 0 Silent T 63 C5orf45 SNP 5 T A 179197288 179197288 Broad SCML4 256380 broad.mit.edu GRCh37 6 108041957 108041957 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000369020.3:c.923C>T p.Pro308Leu p.P308L ENST00000369020 NM_198081.3 308 cCa/cTa 0 Missense_Mutation G 47 SCML4 SNP 6 G A 108148650 108148650 Broad IL20RA 53832 broad.mit.edu GRCh37 6 137322912 137322912 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000316649.5:c.1445G>A p.Trp482Ter p.W482* ENST00000316649 NM_014432.3 482 tGg/tAg 0 Nonsense_Mutation C 21 IL20RA SNP 6 C T 137364605 137364605 Broad PKD1L1 168507 broad.mit.edu GRCh37 7 47879093 47879093 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000289672.2:c.5720G>A p.Arg1907His p.R1907H ENST00000289672 NM_138295.3 1907 cGc/cAc 0 Missense_Mutation C 27 PKD1L1 SNP 7 C T 47845618 47845618 Broad TSPAN12 23554 broad.mit.edu GRCh37 7 120428922 120428922 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000222747.3:c.642G>A p.Leu214= p.L214= ENST00000222747 NM_012338.3 214 ttG/ttA 0 Silent C 29 TSPAN12 SNP 7 C T 120216158 120216158 Broad CHCHD3 54927 broad.mit.edu GRCh37 7 132709313 132709313 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000262570.5:c.244C>G p.Gln82Glu p.Q82E ENST00000262570 NM_017812.2 82 Cag/Gag 0 Missense_Mutation G 45 CHCHD3 SNP 7 G C 132359853 132359853 Broad CLCN1 1180 broad.mit.edu GRCh37 7 143013444 143013444 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000343257.2:c.139C>T p.Arg47Trp p.R47W ENST00000343257 NM_000083.2 47 Cgg/Tgg 0 Missense_Mutation C 23 CLCN1 SNP 7 C T 142723566 142723566 Broad NOS3 4846 broad.mit.edu GRCh37 7 150708000 150708000 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000297494.3:c.2910C>G p.Pro970= p.P970= ENST00000297494 NM_000603.4 970 ccC/ccG 0 Silent C 22 NOS3 SNP 7 C G 150338933 150338933 Broad SDC2 6383 broad.mit.edu GRCh37 8 97620629 97620629 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000302190.4:c.373G>A p.Glu125Lys p.E125K ENST00000302190 NM_002998.3 125 Gaa/Aaa 0 Missense_Mutation G 37 SDC2 SNP 8 G A 97689805 97689805 Broad COL22A1 169044 broad.mit.edu GRCh37 8 139890005 139890005 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000303045.6:c.646C>T p.Arg216Cys p.R216C ENST00000303045 NM_152888.1 216 Cgt/Tgt 0 Missense_Mutation G 39 COL22A1 SNP 8 G A 139959187 139959187 Broad PLEC 5339 broad.mit.edu GRCh37 8 144992534 144992534 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000322810.4:c.11866C>T p.Pro3956Ser p.P3956S ENST00000322810 NM_201380.2 3956 Ccc/Tcc 0 Missense_Mutation G 41 PLEC SNP 8 G A 145064522 145064522 Broad SLC52A2 79581 broad.mit.edu GRCh37 8 145583658 145583658 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000532887.1:c.506G>T p.Arg169Leu p.R169L ENST00000532887 169 cGc/cTc 0 Missense_Mutation G 38 GPR172A SNP 8 G T 145554466 145554466 Broad FAM102A 399665 broad.mit.edu GRCh37 9 130707144 130707144 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000373095.1:c.951C>T p.Thr317= p.T317= ENST00000373095 NM_001035254.2 317 acC/acT 0 Silent G 35 FAM102A SNP 9 G A 129746965 129746965 Broad TCEAL3 85012 broad.mit.edu GRCh37 X 102864108 102864108 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000372628.1:c.116A>T p.Glu39Val p.E39V ENST00000372628 39 gAg/gTg 0 Missense_Mutation A 11 TCEAL3 SNP 23 A T 102750764 102750764 Broad IGSF1 3547 broad.mit.edu GRCh37 X 130409963 130409963 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown x x x ENST00000370903.3:c.2883C>T p.Leu961= p.L961= ENST00000370903 NM_001555.4 961 ctC/ctT 0 Silent G 45 IGSF1 SNP 23 G A 130237644 130237644 Broad TP53 7157 broad.mit.edu GRCh37 17 7577146 7577156 + splice_acceptor_variant,coding_sequence_variant Splice_Site DEL TAGATTACCAC TAGATTACCAC - novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.783-1_792del p.X261_splice ENST00000269305 NM_001126112.2 0 Splice_Site_Del TAGATTACCAC 57 TP53 DEL 17 TAGATTACCAC - 7517881 7517871 Broad COL9A2 1298 broad.mit.edu GRCh37 1 40771828 40771845 + inframe_deletion In_Frame_Del DEL CCTCCTTTTGTCCCAGGC CCTCCTTTTGTCCCAGGC - novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000372748.3:c.1023_1040del p.Gln341_Gly347delinsHis p.Q341_G347delinsH ENST00000372748 NM_001852.3 341 caGCCTGGGACAAAAGGAGGc/cac 0 In_Frame_Del CCTCCTTTTGTCCCAGGC 26 COL9A2 DEL 1 - CCTCCTTTTGTCCCAGGC 40544432 40544415 Broad PRG4 10216 broad.mit.edu GRCh37 1 186277190 186277237 + inframe_deletion In_Frame_Del DEL GGACTGCTCCAACTACCCTCAAGGAACCTGCACCCACTACTCCCAAGA GGACTGCTCCAACTACCCTCAAGGAACCTGCACCCACTACTCCCAAGA - novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000445192.2:c.2339_2386del p.Gly780_Lys796delinsGlu p.G780_K796delinsE ENST00000445192 NM_005807.3 780 gGGACTGCTCCAACTACCCTCAAGGAACCTGCACCCACTACTCCCAAGAag/gag 0 In_Frame_Del GGACTGCTCCAACTACCCTCAAGGAACCTGCACCCACTACTCCCAAGA 43 PRG4 DEL 1 - GGACTGCTCCAACTACCCTCAAGGAACCTGCACCCACTACTCCCAAGA 184543860 184543813 Broad SKIDA1 387640 broad.mit.edu GRCh37 10 21805466 21805467 + inframe_insertion In_Frame_Ins INS - - CCTCCT novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000449193.2:c.1280_1285dupAGGAGG p.Glu427_Glu428dup p.E427_E428dup ENST00000449193 NM_207371.3 429 ggg/gAGGAGGgg 0 In_Frame_Ins - 22 C10orf140 INS 10 CCTCCT - 21845473 21845472 Broad FAM86B2 653333 broad.mit.edu GRCh37 8 12291593 12291595 + inframe_deletion In_Frame_Del DEL CTG CTG - novel Unknown TCGA-23-1116-01 TCGA-23-1116-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000262365.4:c.125_127del p.Ser42_Asp43delinsTyr p.S42_D43delinsY ENST00000262365 NM_001137610.1 42 tCAGat/tat 0 In_Frame_Del CTG 32 FAM86B2 DEL 8 - CTG 12335966 12335964 Broad CAMTA1 23261 broad.mit.edu GRCh37 1 7792592 7792592 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 Unknown Unknown Unknown x x x ENST00000303635.7:c.2999A>C p.Lys1000Thr p.K1000T ENST00000303635 NM_015215.2 1000 aAa/aCa 0 Missense_Mutation A 1 CAMTA1 SNP 1 A C 7715179 7715179 Broad FMN2 56776 broad.mit.edu GRCh37 1 240255583 240255583 + synonymous_variant Silent SNP C C G rs71168893 Unknown TCGA-13-0911-01 TCGA-13-0911-10 Unknown Unknown Unknown x x x ENST00000319653.9:c.174C>G p.Gly58= p.G58= ENST00000319653 NM_020066.4 58 ggC/ggG 0 Silent C 27 FMN2 SNP 1 C G 238322206 238322206 Broad ARL5B 221079 broad.mit.edu GRCh37 10 18955515 18955515 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000377275.3:c.58A>G p.Ile20Val p.I20V ENST00000377275 NM_178815.3 20 Att/Gtt 0 Missense_Mutation A 4 ARL5B SNP 10 A G 18995521 18995521 Broad MS4A3 932 broad.mit.edu GRCh37 11 59834458 59834458 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 Unknown Unknown Unknown x x x ENST00000278865.3:c.386C>A p.Ala129Asp p.A129D ENST00000278865 NM_006138.4 129 gCt/gAt 0 Missense_Mutation C 28 MS4A3 SNP 11 C A 59591034 59591034 Broad RPS6KB2 6199 broad.mit.edu GRCh37 11 67200504 67200504 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000312629.5:c.698T>C p.Ile233Thr p.I233T ENST00000312629 NM_003952.2 233 aTt/aCt 0 Missense_Mutation T 52 RPS6KB2 SNP 11 T C 66957080 66957080 Broad FSCB 84075 broad.mit.edu GRCh37 14 44974851 44974851 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000340446.4:c.1340A>T p.Glu447Val p.E447V ENST00000340446 NM_032135.3 447 gAg/gTg 0 Missense_Mutation T 54 FSCB SNP 14 T A 44044601 44044601 Broad LCTL 197021 broad.mit.edu GRCh37 15 66850125 66850125 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 Unknown Unknown Unknown x x x ENST00000341509.5:c.857G>C p.Cys286Ser p.C286S ENST00000341509 NM_207338.3 286 tGt/tCt 0 Missense_Mutation C 17 LCTL SNP 15 C G 64637179 64637179 Broad PITPNM3 83394 broad.mit.edu GRCh37 17 6373654 6373654 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 Unknown Unknown Unknown x x x ENST00000262483.8:c.1699A>C p.Thr567Pro p.T567P ENST00000262483 NM_031220.3 567 Acc/Ccc 0 Missense_Mutation T 59 PITPNM3 SNP 17 T G 6314378 6314378 Broad NETO1 81832 broad.mit.edu GRCh37 18 70526214 70526214 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000327305.6:c.316G>T p.Gly106Ter p.G106* ENST00000327305 NM_138966.3 106 Gga/Tga 0 Nonsense_Mutation C 21 NETO1 SNP 18 C A 68677194 68677194 Broad OR1I1 126370 broad.mit.edu GRCh37 19 15197970 15197970 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 Unknown Unknown Unknown x x x ENST00000209540.2:c.94C>G p.Leu32Val p.L32V ENST00000209540 NM_001004713.1 32 Ctc/Gtc 0 Missense_Mutation C 24 OR1I1 SNP 19 C G 15058970 15058970 Broad PEG3 5178 broad.mit.edu GRCh37 19 57328817 57328817 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000326441.9:c.993A>G p.Ala331= p.A331= ENST00000326441 NM_006210.2 331 gcA/gcG 0 Silent T 63 PEG3 SNP 19 T C 62020629 62020629 Broad LRP2 4036 broad.mit.edu GRCh37 2 170063047 170063047 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000263816.3:c.7183T>C p.Ser2395Pro p.S2395P ENST00000263816 NM_004525.2 2395 Tct/Cct 0 Missense_Mutation A 10 LRP2 SNP 2 A G 169771293 169771293 Broad CALCRL 10203 broad.mit.edu GRCh37 2 188217026 188217026 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 Unknown Unknown Unknown x x x ENST00000409998.1:c.943G>A p.Val315Ile p.V315I ENST00000409998 315 Gtt/Att 0 Missense_Mutation C 19 CALCRL SNP 2 C T 187925271 187925271 Broad AGAP1 116987 broad.mit.edu GRCh37 2 236708132 236708132 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 Unknown Unknown Unknown x x x ENST00000304032.8:c.923G>A p.Arg308His p.R308H ENST00000304032 NM_001037131.2 308 cGc/cAc 0 Missense_Mutation G 38 AGAP1 SNP 2 G A 236372871 236372871 Broad GPR35 2859 broad.mit.edu GRCh37 2 241569540 241569540 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 Unknown Unknown Unknown x x x ENST00000438013.2:c.264C>G p.Ile88Met p.I88M ENST00000438013 88 atC/atG 0 Missense_Mutation C 32 GPR35 SNP 2 C G 241218213 241218213 Broad TOP3B 8940 broad.mit.edu GRCh37 22 22324768 22324768 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 Unknown Unknown Unknown x x x ENST00000398793.2:c.395C>A p.Ala132Asp p.A132D ENST00000398793 NM_003935.3 132 gCt/gAt 0 Missense_Mutation G 34 TOP3B SNP 22 G T 20654768 20654768 Broad APOL1 8542 broad.mit.edu GRCh37 22 36661455 36661455 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 Unknown Unknown Unknown x x x ENST00000319136.4:c.621C>T p.Leu207= p.L207= ENST00000319136 NM_145343.2 207 ctC/ctT 0 Silent C 31 APOL1 SNP 22 C T 34991401 34991401 Broad CAMKV 79012 broad.mit.edu GRCh37 3 49898959 49898959 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000477224.1:c.354G>A p.Ser118= p.S118= ENST00000477224 118 tcG/tcA 0 Silent C 23 CAMKV SNP 3 C T 49873963 49873963 Broad CD47 961 broad.mit.edu GRCh37 3 107799014 107799014 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000361309.5:c.224C>G p.Ser75Cys p.S75C ENST00000361309 NM_001777.3 75 tCc/tGc 0 Missense_Mutation G 41 CD47 SNP 3 G C 109281704 109281704 Broad RAP1GDS1 5910 broad.mit.edu GRCh37 4 99325731 99325731 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000339360.5:c.744T>C p.Val248= p.V248= ENST00000339360 248 gtT/gtC 0 Silent T 62 RAP1GDS1 SNP 4 T C 99544754 99544754 Broad FAM134B 54463 broad.mit.edu GRCh37 5 16479054 16479054 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 Unknown Unknown Unknown x x x ENST00000306320.9:c.713T>C p.Ile238Thr p.I238T ENST00000306320 NM_001034850.2 238 aTt/aCt 0 Missense_Mutation A 4 FAM134B SNP 5 A G 16532054 16532054 Broad PCDHGA2 56113 broad.mit.edu GRCh37 5 140718758 140718758 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 Unknown Unknown Unknown x x x ENST00000394576.2:c.220C>T p.Leu74Phe p.L74F ENST00000394576 NM_018915.2 74 Ctc/Ttc 0 Missense_Mutation C 28 PCDHGA2 SNP 5 C T 140698942 140698942 Broad SOSTDC1 25928 broad.mit.edu GRCh37 7 16505224 16505224 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 Unknown Unknown Unknown x x x ENST00000307068.4:c.70T>C p.Phe24Leu p.F24L ENST00000307068 NM_015464.2 24 Ttt/Ctt 0 Missense_Mutation A 1 SOSTDC1 SNP 7 A G 16471749 16471749 Broad ATP6AP1 537 broad.mit.edu GRCh37 X 153662578 153662578 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 G T G G Unknown Valid Somatic x x 454_PCR_WGA x ENST00000369762.2:c.709G>T p.Ala237Ser p.A237S ENST00000369762 NM_001183.4 237 Gcc/Tcc 0 Missense_Mutation G 42 ATP6AP1 SNP 23 G T 153315772 153315772 Broad NBPF16 728936 broad.mit.edu GRCh37 1 148753330 148753336 + frameshift_variant Frame_Shift_Del DEL TTATCTT TTATCTT - novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000417839.1:c.1347_1353del p.Asp449GlufsTer6 p.D449Efs*6 ENST00000417839 NM_001102663.1 449 gaTTATCTT/ga 0 Frame_Shift_Del TTATCTT 52 NBPF16 DEL 1 - TTATCTT 147019960 147019954 Broad RTL1 388015 broad.mit.edu GRCh37 14 101350670 101350671 + inframe_insertion In_Frame_Ins INS - - TCT novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000534062.1:c.453_455dupAGA p.Glu152dup p.E152dup ENST00000534062 NM_001134888.2 152 gag/gaAGAg 0 In_Frame_Ins - 28 RTL1 INS 14 TCT - 100420424 100420423 Broad TP53 7157 broad.mit.edu GRCh37 17 7579556 7579560 + frameshift_variant Frame_Shift_Del DEL ATCAA ATCAA - novel Unknown TCGA-13-0911-01 TCGA-13-0911-10 - ATCAA ATCAA ATCAA Unknown Valid Somatic Phase_I Capture Illumina GAIIx ENST00000269305.4:c.127_131del p.Leu43AlafsTer7 p.L43Afs*7 ENST00000269305 NM_001126112.2 43 TTGATg/g 0 Frame_Shift_Del ATCAA 8 TP53 DEL 17 - ATCAA 7520285 7520281 Broad SZT2 23334 broad.mit.edu GRCh37 1 43913627 43913627 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000562955.1:c.9377A>T p.Glu3126Val p.E3126V ENST00000562955 NM_015284.3 3126 gAg/gTg 0 Missense_Mutation A 11 KIAA0467 SNP 1 A T 43686214 43686214 Broad NASP 4678 broad.mit.edu GRCh37 1 46081049 46081049 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000350030.3:c.1928A>G p.Lys643Arg p.K643R ENST00000350030 NM_002482.3 643 aAg/aGg 0 Missense_Mutation A 3 NASP SNP 1 A G 45853636 45853636 Broad ZZZ3 26009 broad.mit.edu GRCh37 1 78097567 78097567 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000370801.3:c.1473A>G p.Glu491= p.E491= ENST00000370801 NM_015534.4 491 gaA/gaG 0 Silent T 52 ZZZ3 SNP 1 T C 77870155 77870155 Broad IQGAP3 128239 broad.mit.edu GRCh37 1 156507007 156507007 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000361170.2:c.3388C>G p.Leu1130Val p.L1130V ENST00000361170 NM_178229.4 1130 Ctt/Gtt 0 Missense_Mutation G 35 IQGAP3 SNP 1 G C 154773631 154773631 Broad F11R 50848 broad.mit.edu GRCh37 1 160990824 160990824 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000368026.6:c.40C>T p.Leu14Phe p.L14F ENST00000368026 NM_016946.4 14 Ctc/Ttc 0 Missense_Mutation G 35 F11R SNP 1 G A 159257448 159257448 Broad TNN 63923 broad.mit.edu GRCh37 1 175049321 175049321 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000239462.4:c.807G>C p.Gln269His p.Q269H ENST00000239462 NM_022093.1 269 caG/caC 0 Missense_Mutation G 34 TNN SNP 1 G C 173315944 173315944 Broad LHX4 89884 broad.mit.edu GRCh37 1 180241140 180241140 + splice_region_variant,synonymous_variant Splice_Region SNP A A T novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000263726.2:c.777A>T p.Arg259= p.R259= ENST00000263726 NM_033343.3 259 cgA/cgT 0 Silent A 11 LHX4 SNP 1 A T 178507763 178507763 Broad TTC13 79573 broad.mit.edu GRCh37 1 231060661 231060661 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000366661.4:c.1647G>A p.Ser549= p.S549= ENST00000366661 NM_024525.4 549 tcG/tcA 0 Silent C 31 TTC13 SNP 1 C T 229127284 229127284 Broad TRIM67 440730 broad.mit.edu GRCh37 1 231351152 231351152 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000366653.5:c.2318C>A p.Thr773Asn p.T773N ENST00000366653 773 aCt/aAt 0 Missense_Mutation C 20 TRIM67 SNP 1 C A 229417775 229417775 Broad ZBTB18 10472 broad.mit.edu GRCh37 1 244217893 244217893 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000358704.4:c.817G>A p.Val273Met p.V273M ENST00000358704 NM_205768.2 273 Gtg/Atg 0 Missense_Mutation G 40 ZNF238 SNP 1 G A 242284516 242284516 Broad ZFYVE27 118813 broad.mit.edu GRCh37 10 99510142 99510142 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000356257.4:c.719A>G p.Glu240Gly p.E240G ENST00000356257 NM_001002261.3 240 gAg/gGg 0 Missense_Mutation A 11 ZFYVE27 SNP 10 A G 99500132 99500132 Broad PDCD11 22984 broad.mit.edu GRCh37 10 105178278 105178278 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369797.3:c.1993C>T p.Pro665Ser p.P665S ENST00000369797 NM_014976.1 665 Ccc/Tcc 0 Missense_Mutation C 22 PDCD11 SNP 10 C T 105168268 105168268 Broad CTTN 2017 broad.mit.edu GRCh37 11 70269076 70269076 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000376561.3:c.821G>C p.Gly274Ala p.G274A ENST00000376561 NM_001184740.1 274 gGg/gCg 0 Missense_Mutation G 43 CTTN SNP 11 G C 69946724 69946724 Broad HOXC8 3224 broad.mit.edu GRCh37 12 54405157 54405157 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000040584.4:c.721A>C p.Lys241Gln p.K241Q ENST00000040584 NM_022658.3 241 Aag/Cag 0 Missense_Mutation A 5 HOXC8 SNP 12 A C 52691424 52691424 Broad FAM109A 144717 broad.mit.edu GRCh37 12 111800834 111800835 + missense_variant Missense_Mutation DNP CC CC AT novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000361483.3:c.436_437delinsAT p.Gly146Met p.G146M ENST00000361483 NM_001177996.1 146 GGg/ATg 0 Missense_Mutation CC 22 FAM109A DNP 12 CC AT 110285218 110285217 Broad ATP8A2 51761 broad.mit.edu GRCh37 13 26586707 26586707 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000381655.2:c.3416G>A p.Arg1139Gln p.R1139Q ENST00000381655 NM_016529.4 1139 cGg/cAg 0 Missense_Mutation G 39 ATP8A2 SNP 13 G A 25484707 25484707 Broad VPS13C 54832 broad.mit.edu GRCh37 15 62167097 62167097 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000261517.5:c.10392A>T p.Arg3464Ser p.R3464S ENST00000261517 NM_020821.2 3464 agA/agT 0 Missense_Mutation T 62 VPS13C SNP 15 T A 59954389 59954389 Broad GTF3C1 2975 broad.mit.edu GRCh37 16 27549676 27549676 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000356183.4:c.433T>G p.Trp145Gly p.W145G ENST00000356183 NM_001520.3 145 Tgg/Ggg 0 Missense_Mutation A 6 GTF3C1 SNP 16 A C 27457177 27457177 Broad SLC38A7 55238 broad.mit.edu GRCh37 16 58713977 58713977 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000570101.1:c.54T>C p.Asp18= p.D18= ENST00000570101 18 gaT/gaC 0 Silent A 8 SLC38A7 SNP 16 A G 57271478 57271478 Broad TP53 7157 broad.mit.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C A rs28934576 Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.818G>T p.Arg273Leu p.R273L ENST00000269305 NM_001126112.2 273 cGt/cTt 0 Missense_Mutation C 19 TP53 SNP 17 C A 7517845 7517845 Broad STAT5B 6777 broad.mit.edu GRCh37 17 40379561 40379561 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000293328.3:c.271G>T p.Ala91Ser p.A91S ENST00000293328 NM_012448.3 91 Gcc/Tcc 0 Missense_Mutation C 25 STAT5B SNP 17 C A 37633087 37633087 Broad FAM117A 81558 broad.mit.edu GRCh37 17 47794913 47794913 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000240364.2:c.872G>T p.Gly291Val p.G291V ENST00000240364 NM_030802.3 291 gGt/gTt 0 Missense_Mutation C 18 FAM117A SNP 17 C A 45149912 45149912 Broad CHAD 1101 broad.mit.edu GRCh37 17 48543071 48543071 + missense_variant Missense_Mutation SNP C C T rs35218093 byCluster;byFrequency TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000508540.1:c.935G>A p.Arg312Gln p.R312Q ENST00000508540 NM_001267.2 312 cGg/cAg 0 Missense_Mutation C 23 CHAD SNP 17 C T 45898070 45898070 Broad ZNF521 25925 broad.mit.edu GRCh37 18 22804982 22804982 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000361524.3:c.2900G>A p.Arg967Gln p.R967Q ENST00000361524 NM_015461.2 967 cGg/cAg 0 Missense_Mutation C 23 ZNF521 SNP 18 C T 21058980 21058980 Broad MUC16 94025 broad.mit.edu GRCh37 19 8977643 8977643 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000397910.4:c.42202A>G p.Thr14068Ala p.T14068A ENST00000397910 NM_024690.2 14068 Aca/Gca 0 Missense_Mutation T 60 MUC16 SNP 19 T C 8838643 8838643 Broad PKN1 5585 broad.mit.edu GRCh37 19 14562650 14562650 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000342216.4:c.998A>G p.Glu333Gly p.E333G ENST00000342216 NM_213560.1 333 gAg/gGg 0 Missense_Mutation A 11 PKN1 SNP 19 A G 14423650 14423650 Broad FBL 2091 broad.mit.edu GRCh37 19 40331298 40331298 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000221801.3:c.140G>T p.Gly47Val p.G47V ENST00000221801 NM_001436.3 47 gGa/gTa 0 Missense_Mutation C 30 FBL SNP 19 C A 45023138 45023138 Broad SPTBN4 57731 broad.mit.edu GRCh37 19 41072244 41072244 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000352632.3:c.6315C>T p.Ser2105= p.S2105= ENST00000352632 2105 agC/agT 0 Silent C 28 SPTBN4 SNP 19 C T 45764084 45764084 Broad AXL 558 broad.mit.edu GRCh37 19 41725367 41725367 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000301178.4:c.70T>G p.Cys24Gly p.C24G ENST00000301178 NM_021913.4 24 Tgc/Ggc 0 Missense_Mutation T 59 AXL SNP 19 T G 46417207 46417207 Broad ARHGEF1 9138 broad.mit.edu GRCh37 19 42388541 42388541 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000337665.4:c.7T>A p.Ser3Thr p.S3T ENST00000337665 NM_199002.1 3 Tct/Act 0 Missense_Mutation T 62 ARHGEF1 SNP 19 T A 47080381 47080381 Broad SCN3A 6328 broad.mit.edu GRCh37 2 165947802 165947802 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000283254.7:c.4861C>T p.Arg1621Ter p.R1621* ENST00000283254 NM_001081676.1 1621 Cga/Tga 0 Nonsense_Mutation G 39 SCN3A SNP 2 G A 165656048 165656048 Broad TMEM198 130612 broad.mit.edu GRCh37 2 220412398 220412398 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000344458.2:c.337G>T p.Val113Leu p.V113L ENST00000344458 113 Gtg/Ttg 0 Missense_Mutation G 36 TMEM198 SNP 2 G T 220120642 220120642 Broad SIRPA 140885 broad.mit.edu GRCh37 20 1903108 1903108 + missense_variant Missense_Mutation SNP G G A rs2422666 byCluster;byFrequency;byHapMap TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000358771.4:c.904G>A p.Val302Ile p.V302I ENST00000358771 NM_001040023.1 302 Gtt/Att 0 Missense_Mutation G 40 SIRPA SNP 20 G A 1851108 1851108 Broad PCSK2 5126 broad.mit.edu GRCh37 20 17434587 17434587 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000262545.2:c.1086C>G p.Asn362Lys p.N362K ENST00000262545 NM_002594.3 362 aaC/aaG 0 Missense_Mutation C 18 PCSK2 SNP 20 C G 17382587 17382587 Broad DIDO1 11083 broad.mit.edu GRCh37 20 61511873 61511873 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000266070.4:c.5435C>T p.Ser1812Leu p.S1812L ENST00000266070 NM_033081.2 1812 tCg/tTg 0 Missense_Mutation G 37 DIDO1 SNP 20 G A 60982318 60982318 Broad DIDO1 11083 broad.mit.edu GRCh37 20 61541214 61541214 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000266070.4:c.998C>T p.Ala333Val p.A333V ENST00000266070 NM_033081.2 333 gCa/gTa 0 Missense_Mutation G 46 DIDO1 SNP 20 G A 61011659 61011659 Broad UMODL1 89766 broad.mit.edu GRCh37 21 43510524 43510524 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000408989.2:c.907C>T p.Arg303Trp p.R303W ENST00000408989 NM_173568.3 303 Cgg/Tgg 0 Missense_Mutation C 19 UMODL1 SNP 21 C T 42383593 42383593 Broad NUP210 23225 broad.mit.edu GRCh37 3 13378308 13378308 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000254508.5:c.3663C>T p.Asp1221= p.D1221= ENST00000254508 NM_024923.3 1221 gaC/gaT 0 Silent G 44 NUP210 SNP 3 G A 13353308 13353308 Broad TM4SF18 116441 broad.mit.edu GRCh37 3 149042743 149042743 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000296059.2:c.334G>A p.Ala112Thr p.A112T ENST00000296059 NM_138786.3 112 Gcc/Acc 0 Missense_Mutation C 25 TM4SF18 SNP 3 C T 150525433 150525433 Broad PIK3CA 5290 broad.mit.edu GRCh37 3 178942593 178942593 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000263967.3:c.2400C>A p.Ile800= p.I800= ENST00000263967 NM_006218.2 800 atC/atA 0 Silent C 32 PIK3CA SNP 3 C A 180425287 180425287 Broad TACC3 10460 broad.mit.edu GRCh37 4 1729572 1729572 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000313288.4:c.443C>T p.Ala148Val p.A148V ENST00000313288 NM_006342.2 148 gCc/gTc 0 Missense_Mutation C 26 TACC3 SNP 4 C T 1699370 1699370 Broad SFRP2 6423 broad.mit.edu GRCh37 4 154702675 154702675 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000274063.4:c.816G>C p.Ser272= p.S272= ENST00000274063 NM_003013.2 272 tcG/tcC 0 Silent C 23 SFRP2 SNP 4 C G 154922125 154922125 Broad CEP120 153241 broad.mit.edu GRCh37 5 122724242 122724242 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000306467.5:c.1314A>G p.Glu438= p.E438= ENST00000306467 438 gaA/gaG 0 Silent T 56 CEP120 SNP 5 T C 122752141 122752141 Broad SEPT8 23176 broad.mit.edu GRCh37 5 132096666 132096666 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000378719.2:c.1114C>A p.His372Asn p.H372N ENST00000378719 NM_001098811.1 372 Cac/Aac 0 Missense_Mutation G 46 SEPT8 SNP 5 G T 132124565 132124565 Broad CCDC69 26112 broad.mit.edu GRCh37 5 150585025 150585025 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000355417.2:c.60A>T p.Glu20Asp p.E20D ENST00000355417 NM_015621.2 20 gaA/gaT 0 Missense_Mutation T 60 CCDC69 SNP 5 T A 150565218 150565218 Broad ERVFRD-1 405754 broad.mit.edu GRCh37 6 11105465 11105465 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000472091.1:c.79A>G p.Lys27Glu p.K27E ENST00000472091 NM_207582.2 27 Aaa/Gaa 0 Missense_Mutation T 64 HERV-FRD SNP 6 T C 11213451 11213451 Broad TRIM26 7726 broad.mit.edu GRCh37 6 30164385 30164385 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000454678.2:c.673A>C p.Lys225Gln p.K225Q ENST00000454678 NM_003449.4 225 Aag/Cag 0 Missense_Mutation T 63 TRIM26 SNP 6 T G 30272364 30272364 Broad RUNX2 860 broad.mit.edu GRCh37 6 45480092 45480092 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000371438.1:c.969C>A p.Ser323= p.S323= ENST00000371438 NM_001024630.3 323 tcC/tcA 0 Silent C 21 RUNX2 SNP 6 C A 45588070 45588070 Broad THSD7A 221981 broad.mit.edu GRCh37 7 11676209 11676209 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000423059.4:c.570T>G p.Pro190= p.P190= ENST00000423059 NM_015204.2 190 ccT/ccG 0 Silent A 3 THSD7A SNP 7 A C 11642734 11642734 Broad NT5C3A 51251 broad.mit.edu GRCh37 7 33057184 33057184 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000242210.7:c.575T>A p.Leu192His p.L192H ENST00000242210 NM_001002010.2 192 cTc/cAc 0 Missense_Mutation A 11 NT5C3 SNP 7 A T 33023709 33023709 Broad PEX1 5189 broad.mit.edu GRCh37 7 92147160 92147160 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000248633.4:c.669G>A p.Val223= p.V223= ENST00000248633 NM_000466.2 223 gtG/gtA 0 Silent C 21 PEX1 SNP 7 C T 91985096 91985096 Broad CCDC132 55610 broad.mit.edu GRCh37 7 92926064 92926064 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000305866.5:c.1178T>G p.Leu393Arg p.L393R ENST00000305866 NM_017667.3 393 cTa/cGa 0 Missense_Mutation T 53 CCDC132 SNP 7 T G 92764000 92764000 Broad SCARA3 51435 broad.mit.edu GRCh37 8 27528615 27528615 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000301904.3:c.1568G>C p.Gly523Ala p.G523A ENST00000301904 NM_016240.2 523 gGc/gCc 0 Missense_Mutation G 42 SCARA3 SNP 8 G C 27584534 27584534 Broad BAG4 9530 broad.mit.edu GRCh37 8 38067870 38067870 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000287322.4:c.1233T>A p.Leu411= p.L411= ENST00000287322 NM_004874.3 411 ctT/ctA 0 Silent T 62 BAG4 SNP 8 T A 38187027 38187027 Broad NAPRT1 93100 broad.mit.edu GRCh37 8 144657403 144657403 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000449291.2:c.1404C>G p.Ala468= p.A468= ENST00000449291 468 gcC/gcG 0 Silent G 43 NAPRT1 SNP 8 G C 144728546 144728546 Broad C9orf41 138199 broad.mit.edu GRCh37 9 77631295 77631295 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000376834.3:c.479C>T p.Ser160Phe p.S160F ENST00000376834 NM_152420.1 160 tCc/tTc 0 Missense_Mutation G 41 C9orf41 SNP 9 G A 76821115 76821115 Broad COL5A1 1289 broad.mit.edu GRCh37 9 137717652 137717652 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000371817.3:c.4969G>A p.Asp1657Asn p.D1657N ENST00000371817 NM_001278074.1 1657 Gat/Aat 0 Missense_Mutation G 37 COL5A1 SNP 9 G A 136857473 136857473 Broad IRAK1 3654 broad.mit.edu GRCh37 X 153278665 153278665 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown x x x ENST00000369980.3:c.1759G>A p.Glu587Lys p.E587K ENST00000369980 NM_001569.3 587 Gag/Aag 0 Missense_Mutation C 30 IRAK1 SNP 23 C T 152931859 152931859 Broad SPRR1B 6699 broad.mit.edu GRCh37 1 153004942 153005013 + inframe_deletion In_Frame_Del DEL TGCCACCCCAAGGTGCCTGAGCCCTGCCACCCCAAAGTGCCCGAGCCCTGCCAGCCCAAGGTTCCAGAGCCA TGCCACCCCAAGGTGCCTGAGCCCTGCCACCCCAAAGTGCCCGAGCCCTGCCAGCCCAAGGTTCCAGAGCCA - novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000307098.4:c.149_220delACCCCAAAGTGCCCGAGCCCTGCCAGCCCAAGGTTCCAGAGCCATGCCACCCCAAGGTGCCTGAGCCCTGCC p.His50_Cys73del p.H50_C73del ENST00000307098 NM_003125.2 41 TGCCACCCCAAGGTGCCTGAGCCCTGCCACCCCAAAGTGCCCGAGCCCTGCCAGCCCAAGGTTCCAGAGCCA/- 0 In_Frame_Del TGCCACCCCAAGGTGCCTGAGCCCTGCCACCCCAAAGTGCCCGAGCCCTGCCAGCCCAAGGTTCCAGAGCCA 55 SPRR1B DEL 1 - TGCCACCCCAAGGTGCCTGAGCCCTGCCACCCCAAAGTGCCCGAGCCCTGCCAGCCCAAGGTTCCAGAGCCA 151271637 151271566 Broad ELMO3 79767 broad.mit.edu GRCh37 16 67234581 67234586 + inframe_deletion In_Frame_Del DEL AACCTC AACCTC - novel Unknown TCGA-13-1512-01 TCGA-13-1512-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000393997.2:c.695_700del p.Asn232_Leu233del p.N232_L233del ENST00000393997 NM_024712.3 232 AACCTC/- 0 In_Frame_Del AACCTC 9 ELMO3 DEL 16 - AACCTC 65792087 65792082 Broad PLOD1 5351 broad.mit.edu GRCh37 1 12018662 12018662 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000196061.4:c.933C>T p.Leu311= p.L311= ENST00000196061 NM_000302.3 311 ctC/ctT 0 Silent C 30 PLOD1 SNP 1 C T 11941249 11941249 Broad GRIK3 2899 broad.mit.edu GRCh37 1 37346431 37346431 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000373091.3:c.354C>T p.Thr118= p.T118= ENST00000373091 NM_000831.3 118 acC/acT 0 Silent G 47 GRIK3 SNP 1 G A 37119018 37119018 Broad LRRC41 10489 broad.mit.edu GRCh37 1 46744680 46744680 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000343304.6:c.2296C>T p.His766Tyr p.H766Y ENST00000343304 NM_006369.4 766 Cac/Tac 0 Missense_Mutation G 45 LRRC41 SNP 1 G A 46517267 46517267 Broad CDKN2C 1031 broad.mit.edu GRCh37 1 51439625 51439625 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000262662.1:c.190G>A p.Asp64Asn p.D64N ENST00000262662 64 Gat/Aat 0 Missense_Mutation G 37 CDKN2C SNP 1 G A 51212213 51212213 Broad LRRIQ3 127255 broad.mit.edu GRCh37 1 74648285 74648285 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000354431.4:c.510T>C p.Leu170= p.L170= ENST00000354431 NM_001105659.1 170 ctT/ctC 0 Silent A 9 LRRIQ3 SNP 1 A G 74420873 74420873 Broad KDM5B 10765 broad.mit.edu GRCh37 1 202715088 202715088 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000367265.3:c.2221C>A p.Leu741Ile p.L741I ENST00000367265 NM_006618.3 741 Ctc/Atc 0 Missense_Mutation G 33 KDM5B SNP 1 G T 200981711 200981711 Broad IL2RA 3559 broad.mit.edu GRCh37 10 6063497 6063497 + missense_variant Missense_Mutation SNP C C T rs55841382 Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000379959.3:c.527G>A p.Arg176Lys p.R176K ENST00000379959 NM_000417.2 176 aGg/aAg 0 Missense_Mutation C 24 IL2RA SNP 10 C T 6103503 6103503 Broad NLRP10 338322 broad.mit.edu GRCh37 11 7984901 7984901 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000328600.2:c.142G>A p.Glu48Lys p.E48K ENST00000328600 NM_176821.3 48 Gag/Aag 0 Missense_Mutation C 30 NLRP10 SNP 11 C T 7941477 7941477 Broad TRIM44 54765 broad.mit.edu GRCh37 11 35706833 35706834 + missense_variant Missense_Mutation DNP CG CG TT novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000299413.5:c.696_697delinsTT p.Ala233Ser p.A233S ENST00000299413 NM_017583.4 232 gcCGct/gcTTct 0 Missense_Mutation CG 23 TRIM44 DNP 11 CG TT 35663410 35663409 Broad SORL1 6653 broad.mit.edu GRCh37 11 121457023 121457023 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000260197.7:c.3799G>A p.Asp1267Asn p.D1267N ENST00000260197 NM_003105.5 1267 Gat/Aat 0 Missense_Mutation G 37 SORL1 SNP 11 G A 120962233 120962233 Broad OR10G8 219869 broad.mit.edu GRCh37 11 123901211 123901211 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000431524.1:c.882G>T p.Val294= p.V294= ENST00000431524 NM_001004464.1 294 gtG/gtT 0 Silent G 45 OR10G8 SNP 11 G T 123406421 123406421 Broad KIRREL3 84623 broad.mit.edu GRCh37 11 126306875 126306875 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000525144.2:c.1383G>T p.Glu461Asp p.E461D ENST00000525144 NM_032531.3 461 gaG/gaT 0 Missense_Mutation C 20 KIRREL3 SNP 11 C A 125812085 125812085 Broad NFRKB 4798 broad.mit.edu GRCh37 11 129739827 129739827 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000524794.1:c.3168C>T p.Ala1056= p.A1056= ENST00000524794 1056 gcC/gcT 0 Silent G 43 NFRKB SNP 11 G A 129245037 129245037 Broad NRIP2 83714 broad.mit.edu GRCh37 12 2944056 2944056 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000337508.4:c.94G>C p.Glu32Gln p.E32Q ENST00000337508 NM_031474.2 32 Gag/Cag 0 Missense_Mutation C 32 NRIP2 SNP 12 C G 2814317 2814317 Broad SLC16A7 9194 broad.mit.edu GRCh37 12 60168888 60168888 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000261187.4:c.812A>G p.Tyr271Cys p.Y271C ENST00000261187 NM_004731.4 271 tAt/tGt 0 Missense_Mutation A 16 SLC16A7 SNP 12 A G 58455155 58455155 Broad POLE 5426 broad.mit.edu GRCh37 12 133220531 133220531 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000320574.5:c.4182C>T p.Val1394= p.V1394= ENST00000320574 NM_006231.2 1394 gtC/gtT 0 Silent G 33 POLE SNP 12 G A 131730604 131730604 Broad FAM71D 161142 broad.mit.edu GRCh37 14 67671410 67671410 + synonymous_variant,NMD_transcript_variant Silent SNP C C T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000311864.3:c.516C>T p.Ser172= p.S172= ENST00000311864 NM_173526.3 172 tcC/tcT 0 Silent C 22 FAM71D SNP 14 C T 66741163 66741163 Broad OR4N4 283694 broad.mit.edu GRCh37 15 22382565 22382565 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000328795.4:c.93C>A p.Ile31= p.I31= ENST00000328795 NM_001005241.2 31 atC/atA 0 Silent C 32 OR4N4 SNP 15 C A 19883929 19883929 Broad NOD2 64127 broad.mit.edu GRCh37 16 50733558 50733558 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000300589.2:c.233G>C p.Gly78Ala p.G78A ENST00000300589 NM_022162.1 78 gGc/gCc 0 Missense_Mutation G 42 NOD2 SNP 16 G C 49291059 49291059 Broad EDC4 23644 broad.mit.edu GRCh37 16 67915665 67915665 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000358933.5:c.2921G>A p.Arg974His p.R974H ENST00000358933 NM_014329.4 974 cGt/cAt 0 Missense_Mutation G 40 EDC4 SNP 16 G A 66473166 66473166 Broad KARS 3735 broad.mit.edu GRCh37 16 75662510 75662510 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000319410.5:c.1736T>A p.Ile579Asn p.I579N ENST00000319410 NM_001130089.1 579 aTt/aAt 0 Missense_Mutation A 4 KARS SNP 16 A T 74220011 74220011 Broad TP53 7157 broad.mit.edu GRCh37 17 7577117 7577117 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.821T>G p.Val274Gly p.V274G ENST00000269305 NM_001126112.2 274 gTt/gGt 0 Missense_Mutation A 2 TP53 SNP 17 A C 7517842 7517842 Broad EFNB3 1949 broad.mit.edu GRCh37 17 7611766 7611766 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000226091.2:c.429G>C p.Gly143= p.G143= ENST00000226091 NM_001406.3 143 ggG/ggC 0 Silent G 41 EFNB3 SNP 17 G C 7552491 7552491 Broad RBFA 79863 broad.mit.edu GRCh37 18 77798522 77798522 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000306735.5:c.396C>A p.Asp132Glu p.D132E ENST00000306735 NM_024805.2 132 gaC/gaA 0 Missense_Mutation C 20 C18orf22 SNP 18 C A 75899510 75899510 Broad FAM129C 199786 broad.mit.edu GRCh37 19 17662661 17662661 + intron_variant Intron SNP T T C novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000335393.4:c.1844-1461T>C *615* ENST00000335393 NM_173544.4 0 Missense_Mutation T 50 FAM129C SNP 19 T C 17523661 17523661 Broad ECH1 1891 broad.mit.edu GRCh37 19 39322127 39322127 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000221418.4:c.82A>G p.Ser28Gly p.S28G ENST00000221418 NM_001398.2 28 Agt/Ggt 0 Missense_Mutation T 55 ECH1 SNP 19 T C 44013967 44013967 Broad ZNF582 147948 broad.mit.edu GRCh37 19 56895626 56895626 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000301310.4:c.1160G>T p.Arg387Ile p.R387I ENST00000301310 NM_144690.1 387 aGa/aTa 0 Missense_Mutation C 32 ZNF582 SNP 19 C A 61587438 61587438 Broad ALLC 55821 broad.mit.edu GRCh37 2 3729268 3729268 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000252505.3:c.343G>C p.Ala115Pro p.A115P ENST00000252505 NM_018436.3 115 Gca/Cca 0 Missense_Mutation G 46 ALLC SNP 2 G C 3707143 3707143 Broad GREB1 9687 broad.mit.edu GRCh37 2 11755345 11755345 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000381486.2:c.3251A>T p.Asn1084Ile p.N1084I ENST00000381486 NM_014668.3 1084 aAc/aTc 0 Missense_Mutation A 2 GREB1 SNP 2 A T 11672796 11672796 Broad TTN 7273 broad.mit.edu GRCh37 2 179628950 179628950 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.10068T>A p.Thr3356= p.T3356= ENST00000589042 NM_001267550.1 3356 acT/acA 0 Silent A 3 TTN SNP 2 A T 179337195 179337195 Broad RBM12 10137 broad.mit.edu GRCh37 20 34242048 34242048 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000374114.3:c.1197A>G p.Gly399= p.G399= ENST00000374114 NM_001198838.1 399 ggA/ggG 0 Silent T 58 RBM12 SNP 20 T C 33705462 33705462 Broad ZBP1 81030 broad.mit.edu GRCh37 20 56190001 56190001 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000371173.3:c.444G>C p.Lys148Asn p.K148N ENST00000371173 NM_001160417.1 148 aaG/aaC 0 Missense_Mutation C 32 ZBP1 SNP 20 C G 55623407 55623407 Broad ITGB2 3689 broad.mit.edu GRCh37 21 46311819 46311819 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000397850.2:c.1317G>A p.Val439= p.V439= ENST00000397850 439 gtG/gtA 0 Silent C 25 ITGB2 SNP 21 C T 45136247 45136247 Broad GGTLC2 91227 broad.mit.edu GRCh37 22 22989329 22989329 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000480559.1:c.282A>T p.Ser94= p.S94= ENST00000480559 NM_199127.2 94 tcA/tcT 0 Silent A 6 GGTLC2 SNP 22 A T 21319329 21319329 Broad CCDC157 550631 broad.mit.edu GRCh37 22 30762086 30762086 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000405659.1:c.97G>A p.Gly33Arg p.G33R ENST00000405659 33 Ggg/Agg 0 Missense_Mutation G 39 CCDC157 SNP 22 G A 29092086 29092086 Broad SETD2 29072 broad.mit.edu GRCh37 3 47098746 47098746 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000409792.3:c.6528T>A p.Tyr2176Ter p.Y2176* ENST00000409792 NM_014159.6 2176 taT/taA 0 Nonsense_Mutation A 8 SETD2 SNP 3 A T 47073750 47073750 Broad COL7A1 1294 broad.mit.edu GRCh37 3 48625776 48625776 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000328333.8:c.2649G>A p.Leu883= p.L883= ENST00000328333 NM_000094.3 883 ctG/ctA 0 Silent C 29 COL7A1 SNP 3 C T 48600780 48600780 Broad PODXL2 50512 broad.mit.edu GRCh37 3 127379886 127379886 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000342480.6:c.1015G>A p.Gly339Arg p.G339R ENST00000342480 NM_015720.3 339 Gga/Aga 0 Missense_Mutation G 47 PODXL2 SNP 3 G A 128862576 128862576 Broad GPR149 344758 broad.mit.edu GRCh37 3 154056059 154056059 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000389740.2:c.1625G>A p.Arg542His p.R542H ENST00000389740 NM_001038705.1 542 cGt/cAt 0 Missense_Mutation C 19 GPR149 SNP 3 C T 155538753 155538753 Broad PEX5L 51555 broad.mit.edu GRCh37 3 179527398 179527398 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000467460.1:c.1213A>G p.Thr405Ala p.T405A ENST00000467460 NM_001256751.1 405 Act/Gct 0 Missense_Mutation T 57 PEX5L SNP 3 T C 181010092 181010092 Broad ECE2 9718 broad.mit.edu GRCh37 3 184007250 184007250 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000402825.3:c.1754G>A p.Arg585Gln p.R585Q ENST00000402825 NM_014693.3 585 cGg/cAg 0 Missense_Mutation G 39 ECE2 SNP 3 G A 185489944 185489944 Broad PCDHB12 56124 broad.mit.edu GRCh37 5 140589987 140589987 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000239450.2:c.1508T>G p.Leu503Arg p.L503R ENST00000239450 NM_018932.3 503 cTg/cGg 0 Missense_Mutation T 55 PCDHB12 SNP 5 T G 140570171 140570171 Broad ABLIM3 22885 broad.mit.edu GRCh37 5 148627434 148627434 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000506113.1:c.1641C>A p.Ser547Arg p.S547R ENST00000506113 547 agC/agA 0 Missense_Mutation C 28 ABLIM3 SNP 5 C A 148607627 148607627 Broad OR2W1 26692 broad.mit.edu GRCh37 6 29012589 29012589 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000377175.1:c.364C>A p.Arg122Ser p.R122S ENST00000377175 NM_030903.3 122 Cgt/Agt 0 Missense_Mutation G 37 OR2W1 SNP 6 G T 29120568 29120568 Broad MED23 9439 broad.mit.edu GRCh37 6 131908848 131908848 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000368068.3:c.4078G>A p.Val1360Met p.V1360M ENST00000368068 NM_004830.3 1360 Gtg/Atg 0 Missense_Mutation C 18 MED23 SNP 6 C T 131950541 131950541 Broad TAAR8 83551 broad.mit.edu GRCh37 6 132873948 132873948 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000275200.1:c.117C>T p.Ser39= p.S39= ENST00000275200 NM_053278.1 39 agC/agT 0 Silent C 28 TAAR8 SNP 6 C T 132915641 132915641 Broad RSPH3 83861 broad.mit.edu GRCh37 6 159401923 159401923 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000252655.1:c.1168G>A p.Glu390Lys p.E390K ENST00000252655 NM_031924.4 390 Gag/Aag 0 Missense_Mutation C 31 RSPH3 SNP 6 C T 159321911 159321911 Broad CRHR2 1395 broad.mit.edu GRCh37 7 30695301 30695301 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000348438.4:c.1029G>A p.Leu343= p.L343= ENST00000348438 NM_001202475.1 343 ctG/ctA 0 Silent C 25 CRHR2 SNP 7 C T 30661826 30661826 Broad MOGAT3 346606 broad.mit.edu GRCh37 7 100839237 100839237 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000223114.4:c.1016C>A p.Thr339Asn p.T339N ENST00000223114 NM_178176.2 339 aCc/aAc 0 Missense_Mutation G 44 MOGAT3 SNP 7 G T 100625957 100625957 Broad CCDC136 64753 broad.mit.edu GRCh37 7 128445926 128445926 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000297788.4:c.1060C>T p.Arg354Trp p.R354W ENST00000297788 NM_022742.4 354 Cgg/Tgg 0 Missense_Mutation C 31 CCDC136 SNP 7 C T 128233162 128233162 Broad ATG9B 285973 broad.mit.edu GRCh37 7 150718288 150718288 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000377974.2:c.950T>A p.Leu317Gln p.L317Q ENST00000377974 317 cTg/cAg 0 Missense_Mutation A 7 ATG9B SNP 7 A T 150349221 150349221 Broad BMP1 649 broad.mit.edu GRCh37 8 22064471 22064471 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000306385.5:c.2338A>T p.Thr780Ser p.T780S ENST00000306385 NM_006129.4 780 Acc/Tcc 0 Missense_Mutation A 6 BMP1 SNP 8 A T 22120416 22120416 Broad ZFHX4 79776 broad.mit.edu GRCh37 8 77618158 77618158 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000521891.2:c.1835G>T p.Gly612Val p.G612V ENST00000521891 NM_024721.4 612 gGc/gTc 0 Missense_Mutation G 42 ZFHX4 SNP 8 G T 77780713 77780713 Broad MTBP 27085 broad.mit.edu GRCh37 8 121531006 121531006 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000305949.1:c.2559T>C p.Cys853= p.C853= ENST00000305949 NM_022045.4 853 tgT/tgC 0 Silent T 60 MTBP SNP 8 T C 121600187 121600187 Broad SMC5 23137 broad.mit.edu GRCh37 9 72897445 72897445 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000361138.5:c.927A>T p.Arg309= p.R309= ENST00000361138 NM_015110.3 309 cgA/cgT 0 Silent A 9 SMC5 SNP 9 A T 72087265 72087265 Broad TTF1 7270 broad.mit.edu GRCh37 9 135263597 135263597 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000334270.2:c.2241G>T p.Lys747Asn p.K747N ENST00000334270 NM_001205296.1 747 aaG/aaT 0 Missense_Mutation C 32 TTF1 SNP 9 C A 134253418 134253418 Broad FAM47A 158724 broad.mit.edu GRCh37 X 34148347 34148347 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown x x x ENST00000346193.3:c.2049G>A p.Ser683= p.S683= ENST00000346193 NM_203408.3 683 tcG/tcA 0 Silent C 31 FAM47A SNP 23 C T 34058268 34058268 Broad PAPPA2 60676 broad.mit.edu GRCh37 1 176760585 176760594 + frameshift_variant Frame_Shift_Del DEL GTGGAGTACA GTGGAGTACA - novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000367662.3:c.4987_4996del p.Val1663AsnfsTer17 p.V1663Nfs*17 ENST00000367662 NM_020318.2 1663 GTGGAGTACAaa/aa 0 Frame_Shift_Del GTGGAGTACA 48 PAPPA2 DEL 1 - GTGGAGTACA 175027217 175027208 Broad ETFDH 2110 broad.mit.edu GRCh37 4 159627795 159627804 + frameshift_variant Frame_Shift_Del DEL CGGCTCAAGC CGGCTCAAGC - novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000511912.1:c.1484_1493del p.Arg495GlnfsTer27 p.R495Qfs*27 ENST00000511912 NM_004453.2 495 CGGCTCAAGCca/ca 0 Frame_Shift_Del CGGCTCAAGC 19 ETFDH DEL 4 - CGGCTCAAGC 159847254 159847245 Broad PCDHGC3 5098 broad.mit.edu GRCh37 5 140855822 140855830 + inframe_deletion In_Frame_Del DEL GTGGGCAAC GTGGGCAAC - novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000308177.3:c.143_151del p.Gly48_Val50del p.G48_V50del ENST00000308177 NM_002588.2 47 GTGGGCAAC/- 0 In_Frame_Del GTGGGCAAC 48 PCDHGC3 DEL 5 - GTGGGCAAC 140836014 140836006 Broad TRIM27 5987 broad.mit.edu GRCh37 6 28872365 28872365 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-24-2290-01 TCGA-24-2290-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000377199.3:c.1024del p.Tyr342ThrfsTer34 p.Y342Tfs*34 ENST00000377199 NM_006510.4 342 Tac/ac 0 Frame_Shift_Del A 13 TRIM27 DEL 6 - A 28980344 28980344 Broad E2F2 1870 broad.mit.edu GRCh37 1 23857223 23857223 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000361729.2:c.63G>T p.Ala21= p.A21= ENST00000361729 NM_004091.3 21 gcG/gcT 0 Silent C 31 E2F2 SNP 1 C A 23729810 23729810 Broad LHX8 431707 broad.mit.edu GRCh37 1 75626511 75626511 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000294638.5:c.1002A>C p.Ser334= p.S334= ENST00000294638 NM_001001933.1 334 tcA/tcC 0 Silent A 6 LHX8 SNP 1 A C 75399099 75399099 Broad SLC44A5 204962 broad.mit.edu GRCh37 1 75704260 75704260 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000370855.5:c.594G>C p.Lys198Asn p.K198N ENST00000370855 NM_152697.4 198 aaG/aaC 0 Missense_Mutation C 32 SLC44A5 SNP 1 C G 75476848 75476848 Broad DNMBP 23268 broad.mit.edu GRCh37 10 101731833 101731833 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000324109.4:c.49G>A p.Val17Ile p.V17I ENST00000324109 NM_015221.2 17 Gta/Ata 0 Missense_Mutation C 19 DNMBP SNP 10 C T 101721823 101721823 Broad MRGPRX2 117194 broad.mit.edu GRCh37 11 19077485 19077485 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000329773.2:c.465C>T p.Ala155= p.A155= ENST00000329773 NM_054030.2 155 gcC/gcT 0 Silent G 43 MRGPRX2 SNP 11 G A 19034061 19034061 Broad RCOR2 283248 broad.mit.edu GRCh37 11 63681556 63681556 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000301459.4:c.761G>A p.Arg254Gln p.R254Q ENST00000301459 NM_173587.3 254 cGa/cAa 0 Missense_Mutation C 31 RCOR2 SNP 11 C T 63438132 63438132 Broad ADAMTS8 11095 broad.mit.edu GRCh37 11 130275745 130275745 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000257359.6:c.2378T>C p.Val793Ala p.V793A ENST00000257359 NM_007037.4 793 gTc/gCc 0 Missense_Mutation A 10 ADAMTS8 SNP 11 A G 129780955 129780955 Broad ATP2A2 488 broad.mit.edu GRCh37 12 110783104 110783104 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000539276.2:c.2658T>C p.Asp886= p.D886= ENST00000539276 886 gaT/gaC 0 Silent T 52 ATP2A2 SNP 12 T C 109267487 109267487 Broad DCAF5 8816 broad.mit.edu GRCh37 14 69520943 69520943 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000341516.5:c.2460T>A p.Ser820Arg p.S820R ENST00000341516 NM_003861.2 820 agT/agA 0 Missense_Mutation A 6 DCAF5 SNP 14 A T 68590696 68590696 Broad WDR76 79968 broad.mit.edu GRCh37 15 44120517 44120517 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000263795.6:c.415G>A p.Glu139Lys p.E139K ENST00000263795 NM_001167941.1 139 Gaa/Aaa 0 Missense_Mutation G 41 WDR76 SNP 15 G A 41907809 41907809 Broad RAB26 25837 broad.mit.edu GRCh37 16 2203194 2203194 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000210187.6:c.639C>G p.Asn213Lys p.N213K ENST00000210187 NM_014353.4 213 aaC/aaG 0 Missense_Mutation C 19 RAB26 SNP 16 C G 2143195 2143195 Broad RAB26 25837 broad.mit.edu GRCh37 16 2203196 2203196 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000210187.6:c.641T>G p.Val214Gly p.V214G ENST00000210187 NM_014353.4 214 gTg/gGg 0 Missense_Mutation T 59 RAB26 SNP 16 T G 2143197 2143197 Broad ANKRD11 29123 broad.mit.edu GRCh37 16 89347030 89347030 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000301030.4:c.5920C>T p.Pro1974Ser p.P1974S ENST00000301030 NM_001256183.1 1974 Cct/Tct 0 Missense_Mutation G 42 ANKRD11 SNP 16 G A 87874531 87874531 Broad ATP2A3 489 broad.mit.edu GRCh37 17 3831596 3831596 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000359983.3:c.3006G>A p.Arg1002= p.R1002= ENST00000359983 1002 agG/agA 0 Silent C 30 ATP2A3 SNP 17 C T 3778345 3778345 Broad TP53 7157 broad.mit.edu GRCh37 17 7577586 7577586 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.695T>A p.Ile232Asn p.I232N ENST00000269305 NM_001126112.2 232 aTc/aAc 0 Missense_Mutation A 12 TP53 SNP 17 A T 7518311 7518311 Broad DNAH2 146754 broad.mit.edu GRCh37 17 7681663 7681663 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000572933.1:c.5417G>A p.Gly1806Asp p.G1806D ENST00000572933 1806 gGc/gAc 0 Missense_Mutation G 42 DNAH2 SNP 17 G A 7622388 7622388 Broad TEX2 55852 broad.mit.edu GRCh37 17 62291548 62291548 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000258991.3:c.30G>T p.Glu10Asp p.E10D ENST00000258991 NM_001288732.1 10 gaG/gaT 0 Missense_Mutation C 32 TEX2 SNP 17 C A 59645280 59645280 Broad KIF19 124602 broad.mit.edu GRCh37 17 72350430 72350430 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000389916.4:c.2438A>C p.His813Pro p.H813P ENST00000389916 NM_153209.3 813 cAc/cCc 0 Missense_Mutation A 6 KIF19 SNP 17 A C 69862025 69862025 Broad CDH2 1000 broad.mit.edu GRCh37 18 25585846 25585846 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000269141.3:c.814T>A p.Trp272Arg p.W272R ENST00000269141 NM_001792.3 272 Tgg/Agg 0 Missense_Mutation A 5 CDH2 SNP 18 A T 23839844 23839844 Broad DSG2 1829 broad.mit.edu GRCh37 18 29121187 29121187 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000261590.8:c.1911C>T p.Cys637= p.C637= ENST00000261590 NM_001943.3 637 tgC/tgT 0 Silent C 27 DSG2 SNP 18 C T 27375185 27375185 Broad ABHD17A 81926 broad.mit.edu GRCh37 19 1880007 1880007 + missense_variant Missense_Mutation SNP T T G rs7248295 Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000250974.9:c.593A>C p.Tyr198Ser p.Y198S ENST00000250974 NM_031213.3 198 tAc/tCc 0 Missense_Mutation T 57 FAM108A1 SNP 19 T G 1831007 1831007 Broad DNM2 1785 broad.mit.edu GRCh37 19 10930733 10930734 + missense_variant Missense_Mutation DNP GC GC TG novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000389253.4:c.1749_1750delinsTG p.Lys583_His584delinsAsnAsp p.K583_H584delinsND ENST00000389253 NM_001005361.2 583 aaGCac/aaTGac 0 Missense_Mutation GC 34 DNM2 DNP 19 GC TG 10791734 10791733 Broad PCGF1 84759 broad.mit.edu GRCh37 2 74732884 74732884 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000233630.6:c.544A>G p.Lys182Glu p.K182E ENST00000233630 NM_032673.2 182 Aag/Gag 0 Missense_Mutation T 63 PCGF1 SNP 2 T C 74586392 74586392 Broad THSD7B 80731 broad.mit.edu GRCh37 2 138169293 138169293 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000272643.3:c.2810G>T p.Cys937Phe p.C937F ENST00000272643 937 tGc/tTc 0 Missense_Mutation G 46 THSD7B SNP 2 G T 137885763 137885763 Broad FASTKD1 79675 broad.mit.edu GRCh37 2 170417203 170417203 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000453153.2:c.665C>G p.Thr222Ser p.T222S ENST00000453153 NM_024622.4 222 aCc/aGc 0 Missense_Mutation G 44 FASTKD1 SNP 2 G C 170125449 170125449 Broad AOX1 316 broad.mit.edu GRCh37 2 201527645 201527645 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000374700.2:c.3496G>A p.Ala1166Thr p.A1166T ENST00000374700 NM_001159.3 1166 Gct/Act 0 Missense_Mutation G 34 AOX1 SNP 2 G A 201235890 201235890 Broad ZDBF2 57683 broad.mit.edu GRCh37 2 207172506 207172506 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000374423.3:c.3254A>G p.Glu1085Gly p.E1085G ENST00000374423 NM_020923.1 1085 gAa/gGa 0 Missense_Mutation A 9 ZDBF2 SNP 2 A G 206880751 206880751 Broad MITF 4286 broad.mit.edu GRCh37 3 70008522 70008522 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000352241.4:c.1112G>T p.Arg371Leu p.R371L ENST00000352241 NM_198159.2 371 cGa/cTa 0 Missense_Mutation G 37 MITF SNP 3 G T 70091212 70091212 Broad UGT2B10 7365 broad.mit.edu GRCh37 4 69681921 69681921 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000265403.7:c.184C>A p.Leu62Ile p.L62I ENST00000265403 NM_001075.4 62 Ctt/Att 0 Missense_Mutation C 32 UGT2B10 SNP 4 C A 69716510 69716510 Broad PCDH1 5097 broad.mit.edu GRCh37 5 141248436 141248436 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000287008.3:c.601G>A p.Gly201Ser p.G201S ENST00000287008 NM_032420.3 201 Ggt/Agt 0 Missense_Mutation C 23 PCDH1 SNP 5 C T 141228620 141228620 Broad GPR151 134391 broad.mit.edu GRCh37 5 145894800 145894800 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000311104.2:c.877G>A p.Val293Ile p.V293I ENST00000311104 NM_194251.2 293 Gtc/Atc 0 Missense_Mutation C 20 GPR151 SNP 5 C T 145874993 145874993 Broad FAXDC2 10826 broad.mit.edu GRCh37 5 154203153 154203153 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000326080.5:c.367-1G>A p.X123_splice ENST00000326080 NM_032385.3 0 Splice_Site_SNP C 24 C5orf4 SNP 5 C T 154183346 154183346 Broad AIMP2 7965 broad.mit.edu GRCh37 7 6057486 6057486 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000223029.3:c.384G>T p.Pro128= p.P128= ENST00000223029 NM_006303.3 128 ccG/ccT 0 Silent G 39 AIMP2 SNP 7 G T 6024012 6024012 Broad CHRNB3 1142 broad.mit.edu GRCh37 8 42587044 42587044 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000289957.2:c.594C>T p.Asn198= p.N198= ENST00000289957 NM_000749.3 198 aaC/aaT 0 Silent C 19 CHRNB3 SNP 8 C T 42706201 42706201 Broad TAF2 6873 broad.mit.edu GRCh37 8 120809290 120809290 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000378164.2:c.1031G>C p.Arg344Thr p.R344T ENST00000378164 NM_003184.3 344 aGg/aCg 0 Missense_Mutation C 24 TAF2 SNP 8 C G 120878471 120878471 Broad SEC16A 9919 broad.mit.edu GRCh37 9 139342123 139342123 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000313050.7:c.6457C>T p.Pro2153Ser p.P2153S ENST00000313050 NM_014866.1 2153 Ccg/Tcg 0 Missense_Mutation G 43 SEC16A SNP 9 G A 138461944 138461944 Broad GPR143 4935 broad.mit.edu GRCh37 X 9711619 9711619 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000467482.1:c.753G>T p.Leu251= p.L251= ENST00000467482 251 ctG/ctT 0 Silent C 21 GPR143 SNP 23 C A 9671619 9671619 Broad BEND2 139105 broad.mit.edu GRCh37 X 18221738 18221738 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000380033.4:c.790C>T p.Arg264Ter p.R264* ENST00000380033 NM_153346.4 264 Cga/Tga 0 Nonsense_Mutation G 40 BEND2 SNP 23 G A 18131659 18131659 Broad TFE3 7030 broad.mit.edu GRCh37 X 48891027 48891027 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000315869.7:c.1089C>T p.Asn363= p.N363= ENST00000315869 NM_006521.4 363 aaC/aaT 0 Silent G 40 TFE3 SNP 23 G A 48777971 48777971 Broad KIF4A 24137 broad.mit.edu GRCh37 X 69626849 69626849 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000374403.3:c.3179G>A p.Gly1060Asp p.G1060D ENST00000374403 NM_012310.4 1060 gGt/gAt 0 Missense_Mutation G 44 KIF4A SNP 23 G A 69543574 69543574 Broad ZMAT1 84460 broad.mit.edu GRCh37 X 101152861 101152861 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000372782.3:c.485C>T p.Ser162Leu p.S162L ENST00000372782 NM_001011657.3 162 tCa/tTa 0 Missense_Mutation G 45 ZMAT1 SNP 23 G A 101039517 101039517 Broad ZIC3 7547 broad.mit.edu GRCh37 X 136649869 136649869 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2019-01 TCGA-24-2019-10 Unknown Unknown Unknown x x x ENST00000287538.5:c.1019C>G p.Ala340Gly p.A340G ENST00000287538 NM_003413.3 340 gCc/gGc 0 Missense_Mutation C 26 ZIC3 SNP 23 C G 136477535 136477535 Broad CMPK1 51727 broad.mit.edu GRCh37 1 47838691 47838691 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000371873.5:c.383G>T p.Arg128Ile p.R128I ENST00000371873 NM_001136140.1 128 aGa/aTa 0 Missense_Mutation G 33 CMPK1 SNP 1 G T 47611278 47611278 Broad FNDC7 163479 broad.mit.edu GRCh37 1 109273510 109273510 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000370017.3:c.1839C>A p.Thr613= p.T613= ENST00000370017 NM_001144937.1 613 acC/acA 0 Silent C 23 FNDC7 SNP 1 C A 109075033 109075033 Broad CA14 23632 broad.mit.edu GRCh37 1 150235522 150235522 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000369111.4:c.644C>T p.Ser215Leu p.S215L ENST00000369111 NM_012113.1 215 tCg/tTg 0 Missense_Mutation C 31 CA14 SNP 1 C T 148502146 148502146 Broad BRINP3 339479 broad.mit.edu GRCh37 1 190234068 190234068 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000367462.3:c.545C>T p.Ala182Val p.A182V ENST00000367462 NM_199051.1 182 gCt/gTt 0 Missense_Mutation G 34 FAM5C SNP 1 G A 188500691 188500691 Broad GGPS1 9453 broad.mit.edu GRCh37 1 235498582 235498582 + start_lost Translation_Start_Site SNP G G C novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000282841.5:c.3G>C p.Met1? p.M1? ENST00000282841 1 atG/atC 0 Missense_Mutation G 47 GGPS1 SNP 1 G C 233565205 233565205 Broad MYO3A 53904 broad.mit.edu GRCh37 10 26286098 26286098 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000265944.5:c.419A>T p.His140Leu p.H140L ENST00000265944 NM_017433.4 140 cAt/cTt 0 Missense_Mutation A 8 MYO3A SNP 10 A T 26326104 26326104 Broad RPS24 6229 broad.mit.edu GRCh37 10 79795312 79795312 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000440692.1:c.113C>G p.Thr38Arg p.T38R ENST00000440692 NM_001142285.1 38 aCa/aGa 0 Missense_Mutation C 17 RPS24 SNP 10 C G 79465318 79465318 Broad OR10AG1 282770 broad.mit.edu GRCh37 11 55735772 55735772 + synonymous_variant Silent SNP A A G novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000312345.2:c.168T>C p.Asn56= p.N56= ENST00000312345 NM_001005491.1 56 aaT/aaC 0 Silent A 4 OR10AG1 SNP 11 A G 55492348 55492348 Broad SLCO2B1 11309 broad.mit.edu GRCh37 11 74880279 74880279 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000289575.5:c.510G>C p.Ser170= p.S170= ENST00000289575 NM_007256.4 170 tcG/tcC 0 Silent G 39 SLCO2B1 SNP 11 G C 74557927 74557927 Broad FMNL3 91010 broad.mit.edu GRCh37 12 50045938 50045938 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000335154.5:c.1381A>G p.Lys461Glu p.K461E ENST00000335154 NM_175736.4 461 Aag/Gag 0 Missense_Mutation T 62 FMNL3 SNP 12 T C 48332205 48332205 Broad STAT6 6778 broad.mit.edu GRCh37 12 57502029 57502029 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000300134.3:c.33C>T p.Pro11= p.P11= ENST00000300134 NM_001178078.1 11 ccC/ccT 0 Silent G 43 STAT6 SNP 12 G A 55788296 55788296 Broad FAM222A 84915 broad.mit.edu GRCh37 12 110206355 110206355 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000538780.1:c.621C>G p.Asn207Lys p.N207K ENST00000538780 NM_032829.2 207 aaC/aaG 0 Missense_Mutation C 18 C12orf34 SNP 12 C G 108690738 108690738 Broad CDK8 1024 broad.mit.edu GRCh37 13 26956987 26956987 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000381527.3:c.493G>C p.Glu165Gln p.E165Q ENST00000381527 NM_001260.1 165 Gag/Cag 0 Missense_Mutation G 45 CDK8 SNP 13 G C 25854987 25854987 Broad RCBTB1 55213 broad.mit.edu GRCh37 13 50115925 50115925 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000378302.2:c.1211A>C p.Asn404Thr p.N404T ENST00000378302 NM_018191.3 404 aAt/aCt 0 Missense_Mutation T 52 RCBTB1 SNP 13 T G 49013926 49013926 Broad AP3S2 10239 broad.mit.edu GRCh37 15 90414753 90414753 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000336418.4:c.299G>A p.Cys100Tyr p.C100Y ENST00000336418 NM_005829.4 100 tGt/tAt 0 Missense_Mutation C 17 AP3S2 SNP 15 C T 88215757 88215757 Broad MYH11 4629 broad.mit.edu GRCh37 16 15841959 15841959 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000396324.3:c.2146C>T p.Arg716Cys p.R716C ENST00000396324 NM_001040114.1 716 Cgc/Tgc 0 Missense_Mutation G 37 MYH11 SNP 16 G A 15749460 15749460 Broad AP1G1 164 broad.mit.edu GRCh37 16 71808378 71808378 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000393512.3:c.319A>C p.Ile107Leu p.I107L ENST00000393512 NM_001030007.1 107 Atc/Ctc 0 Missense_Mutation T 49 AP1G1 SNP 16 T G 70365879 70365879 Broad FOXC2 2303 broad.mit.edu GRCh37 16 86601400 86601400 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000320354.4:c.459C>G p.Tyr153Ter p.Y153* ENST00000320354 NM_005251.2 153 taC/taG 0 Nonsense_Mutation C 17 FOXC2 SNP 16 C G 85158901 85158901 Broad TP53 7157 broad.mit.edu GRCh37 17 7578536 7578536 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.394A>G p.Lys132Glu p.K132E ENST00000269305 NM_001126112.2 132 Aag/Gag 0 Missense_Mutation T 63 TP53 SNP 17 T C 7519261 7519261 Broad GAA 2548 broad.mit.edu GRCh37 17 78081431 78081431 + stop_gained Nonsense_Mutation SNP T T G novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000302262.3:c.768T>G p.Tyr256Ter p.Y256* ENST00000302262 NM_000152.3 256 taT/taG 0 Nonsense_Mutation T 49 GAA SNP 17 T G 75696026 75696026 Broad MYO5B 4645 broad.mit.edu GRCh37 18 47432877 47432877 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000285039.7:c.2326C>T p.Arg776Trp p.R776W ENST00000285039 NM_001080467.2 776 Cgg/Tgg 0 Missense_Mutation G 39 MYO5B SNP 18 G A 45686875 45686875 Broad MAP1S 55201 broad.mit.edu GRCh37 19 17845155 17845155 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000324096.4:c.3098C>T p.Ala1033Val p.A1033V ENST00000324096 NM_018174.4 1033 gCg/gTg 0 Missense_Mutation C 27 MAP1S SNP 19 C T 17706155 17706155 Broad APOB 338 broad.mit.edu GRCh37 2 21241896 21241896 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000233242.1:c.3089T>G p.Val1030Gly p.V1030G ENST00000233242 NM_000384.2 1030 gTg/gGg 0 Missense_Mutation A 6 APOB SNP 2 A C 21095401 21095401 Broad PLB1 151056 broad.mit.edu GRCh37 2 28801011 28801011 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000327757.5:c.1471A>G p.Met491Val p.M491V ENST00000327757 NM_153021.4 491 Atg/Gtg 0 Missense_Mutation A 12 PLB1 SNP 2 A G 28654515 28654515 Broad RASGRP3 25780 broad.mit.edu GRCh37 2 33752244 33752244 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000403687.3:c.848A>G p.Asn283Ser p.N283S ENST00000403687 NM_001139488.1 283 aAt/aGt 0 Missense_Mutation A 4 RASGRP3 SNP 2 A G 33605748 33605748 Broad KRTAP19-4 337971 broad.mit.edu GRCh37 21 31869187 31869187 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000334058.2:c.242T>A p.Leu81Ter p.L81* ENST00000334058 NM_181610.1 81 tTa/tAa 0 Nonsense_Mutation A 13 KRTAP19-4 SNP 21 A T 30791058 30791058 Broad TTLL8 164714 broad.mit.edu GRCh37 22 50470487 50470487 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000433387.1:c.1383G>T p.Val461= p.V461= ENST00000433387 461 gtG/gtT 0 Silent C 21 TTLL8 SNP 22 C A 48812614 48812614 Broad CHDH 55349 broad.mit.edu GRCh37 3 53852119 53852119 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000315251.6:c.1470C>T p.Ser490= p.S490= ENST00000315251 NM_018397.4 490 agC/agT 0 Silent G 42 CHDH SNP 3 G A 53827159 53827159 Broad H1FX 8971 broad.mit.edu GRCh37 3 129034682 129034682 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000333762.4:c.64A>C p.Thr22Pro p.T22P ENST00000333762 NM_006026.3 22 Acc/Ccc 0 Missense_Mutation T 58 H1FX SNP 3 T G 130517372 130517372 Broad UGT2A1 10941 broad.mit.edu GRCh37 4 70512978 70512978 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000503640.1:c.385G>T p.Val129Phe p.V129F ENST00000503640 NM_006798.3 129 Gtt/Ttt 0 Missense_Mutation C 19 UGT2A1 SNP 4 C A 70547567 70547567 Broad GUCY1B3 2983 broad.mit.edu GRCh37 4 156723554 156723554 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000264424.8:c.1236G>A p.Val412= p.V412= ENST00000264424 NM_000857.2 412 gtG/gtA 0 Silent G 46 GUCY1B3 SNP 4 G A 156943004 156943004 Broad GRIA2 2891 broad.mit.edu GRCh37 4 158254480 158254480 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000296526.7:c.1130A>T p.Glu377Val p.E377V ENST00000296526 NM_000826.3 377 gAg/gTg 0 Missense_Mutation A 11 GRIA2 SNP 4 A T 158473930 158473930 Broad TRPC7 57113 broad.mit.edu GRCh37 5 135651465 135651465 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000513104.1:c.783C>T p.Asn261= p.N261= ENST00000513104 NM_020389.2 261 aaC/aaT 0 Silent G 40 TRPC7 SNP 5 G A 135679364 135679364 Broad PCDHGA10 56106 broad.mit.edu GRCh37 5 140792858 140792858 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000398610.2:c.116T>G p.Ile39Ser p.I39S ENST00000398610 NM_018913.2 39 aTt/aGt 0 Missense_Mutation T 52 PCDHGA10 SNP 5 T G 140773042 140773042 Broad CSF1R 1436 broad.mit.edu GRCh37 5 149460470 149460470 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000286301.3:c.167C>G p.Pro56Arg p.P56R ENST00000286301 NM_005211.3 56 cCt/cGt 0 Missense_Mutation G 35 CSF1R SNP 5 G C 149440663 149440663 Broad THBS2 7058 broad.mit.edu GRCh37 6 169648689 169648689 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000366787.3:c.432G>A p.Leu144= p.L144= ENST00000366787 NM_003247.2 144 ctG/ctA 0 Silent C 21 THBS2 SNP 6 C T 169390614 169390614 Broad DNAH11 8701 broad.mit.edu GRCh37 7 21828945 21828945 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000328843.6:c.10032C>T p.Ile3344= p.I3344= ENST00000328843 3344 atC/atT 0 Silent C 29 DNAH11 SNP 7 C T 21795470 21795470 Broad DBF4 10926 broad.mit.edu GRCh37 7 87536848 87536848 + synonymous_variant Silent SNP C C G novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000265728.1:c.1395C>G p.Ser465= p.S465= ENST00000265728 NM_006716.3 465 tcC/tcG 0 Silent C 23 DBF4 SNP 7 C G 87374784 87374784 Broad LZTS1 11178 broad.mit.edu GRCh37 8 20110385 20110386 + missense_variant Missense_Mutation DNP TG TG AC novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000381569.1:c.1056_1057delinsGT p.Met353Leu p.M353L ENST00000381569 352 ctCAtg/ctGTtg 0 Missense_Mutation TG 51 LZTS1 DNP 8 TG AC 20154666 20154665 Broad XPO7 23039 broad.mit.edu GRCh37 8 21861441 21861441 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000252512.9:c.3070G>C p.Val1024Leu p.V1024L ENST00000252512 NM_015024.4 1024 Gtg/Ctg 0 Missense_Mutation G 48 XPO7 SNP 8 G C 21917387 21917387 Broad ACO1 48 broad.mit.edu GRCh37 9 32408612 32408612 + missense_variant Missense_Mutation SNP G G T rs41304757 Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000309951.6:c.367G>T p.Val123Leu p.V123L ENST00000309951 NM_002197.2 123 Gta/Tta 0 Missense_Mutation G 48 ACO1 SNP 9 G T 32398612 32398612 Broad VSIG4 11326 broad.mit.edu GRCh37 X 65253606 65253606 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000374737.4:c.122G>A p.Cys41Tyr p.C41Y ENST00000374737 NM_001257403.1 41 tGc/tAc 0 Missense_Mutation C 25 VSIG4 SNP 23 C T 65170331 65170331 Broad PBDC1 51260 broad.mit.edu GRCh37 X 75395316 75395316 + synonymous_variant Silent SNP A A T novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000373358.3:c.165A>T p.Ser55= p.S55= ENST00000373358 NM_016500.3 55 tcA/tcT 0 Silent A 8 CXorf26 SNP 23 A T 75311718 75311718 Broad P2RY10 27334 broad.mit.edu GRCh37 X 78216164 78216164 + synonymous_variant Silent SNP T T A novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000171757.2:c.147T>A p.Leu49= p.L49= ENST00000171757 NM_014499.2 49 ctT/ctA 0 Silent T 62 P2RY10 SNP 23 T A 78102820 78102820 Broad GAB3 139716 broad.mit.edu GRCh37 X 153924291 153924291 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown x x x ENST00000424127.2:c.1431T>A p.Ser477Arg p.S477R ENST00000424127 477 agT/agA 0 Missense_Mutation A 10 GAB3 SNP 23 A T 153577485 153577485 Broad CAMK2B 816 broad.mit.edu GRCh37 7 44286765 44286776 + inframe_deletion In_Frame_Del DEL GCCTCCAGGATC GCCTCCAGGATC - novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000395749.2:c.357_368del p.Gln119_Ala123delinsHis p.Q119_A123delinsH ENST00000395749 NM_001220.4 119 caGATCCTGGAGGCc/cac 0 In_Frame_Del GCCTCCAGGATC 42 CAMK2B DEL 7 - GCCTCCAGGATC 44253301 44253290 Broad OR4F21 441308 broad.mit.edu GRCh37 8 116893 116894 + frameshift_variant Frame_Shift_Del DEL GA GA - novel Unknown TCGA-61-2000-01 TCGA-61-2000-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000320901.3:c.131_132del p.Phe44TyrfsTer8 p.F44Yfs*8 ENST00000320901 NM_001005504.1 44 tTC/t 0 Frame_Shift_Del GA 45 OR4F21 DEL 8 - GA 106894 106893 Broad ARHGEF10L 55160 broad.mit.edu GRCh37 1 17961046 17961046 + synonymous_variant Silent SNP T T G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000361221.3:c.1734T>G p.Pro578= p.P578= ENST00000361221 NM_018125.3 578 ccT/ccG 0 Silent T 55 ARHGEF10L SNP 1 T G 17833633 17833633 Broad BAI2 576 broad.mit.edu GRCh37 1 32205635 32205635 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000373658.3:c.2059G>A p.Val687Met p.V687M ENST00000373658 NM_001703.2 687 Gtg/Atg 0 Missense_Mutation C 18 BAI2 SNP 1 C T 31978222 31978222 Broad SNIP1 79753 broad.mit.edu GRCh37 1 38019693 38019693 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000296215.6:c.138G>A p.Pro46= p.P46= ENST00000296215 NM_024700.3 46 ccG/ccA 0 Silent C 23 SNIP1 SNP 1 C T 37792280 37792280 Broad CCDC163P 126661 broad.mit.edu GRCh37 1 45965207 45965207 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000488405.2:c.75T>A p.Asn25Lys p.N25K ENST00000488405 25 aaT/aaA 0 Missense_Mutation A 16 CCDC163P SNP 1 A T 45737794 45737794 Broad CYP4A22 284541 broad.mit.edu GRCh37 1 47607866 47607866 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000371891.3:c.469C>T p.Pro157Ser p.P157S ENST00000371891 NM_001010969.2 157 Cca/Tca 0 Missense_Mutation C 26 CYP4A22 SNP 1 C T 47380453 47380453 Broad MROH7 374977 broad.mit.edu GRCh37 1 55172128 55172128 + synonymous_variant,NMD_transcript_variant Silent SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000414150.2:c.3585C>T p.Ser1195= p.S1195= ENST00000414150 1195 agC/agT 0 Silent C 27 C1orf175 SNP 1 C T 54944716 54944716 Broad ZNF644 84146 broad.mit.edu GRCh37 1 91404919 91404919 + synonymous_variant Silent SNP T T A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000370440.1:c.1992A>T p.Thr664= p.T664= ENST00000370440 664 acA/acT 0 Silent T 51 ZNF644 SNP 1 T A 91177507 91177507 Broad CRTC2 200186 broad.mit.edu GRCh37 1 153925751 153925751 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000368633.1:c.598C>T p.Arg200Ter p.R200* ENST00000368633 NM_181715.2 200 Cga/Tga 0 Nonsense_Mutation G 39 CRTC2 SNP 1 G A 152192375 152192375 Broad ADAR 103 broad.mit.edu GRCh37 1 154574163 154574163 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000368474.4:c.955G>T p.Ala319Ser p.A319S ENST00000368474 NM_001111.4 319 Gct/Tct 0 Missense_Mutation C 26 ADAR SNP 1 C A 152840787 152840787 Broad IQGAP3 128239 broad.mit.edu GRCh37 1 156509645 156509645 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000361170.2:c.2877C>T p.Leu959= p.L959= ENST00000361170 NM_178229.4 959 ctC/ctT 0 Silent G 33 IQGAP3 SNP 1 G A 154776269 154776269 Broad TDRD5 163589 broad.mit.edu GRCh37 1 179659906 179659906 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000444136.1:c.2936G>A p.Arg979His p.R979H ENST00000444136 NM_001199089.1 979 cGt/cAt 0 Missense_Mutation G 40 TDRD5 SNP 1 G A 177926529 177926529 Broad GPR25 2848 broad.mit.edu GRCh37 1 200843143 200843143 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000304244.2:c.978C>T p.Thr326= p.T326= ENST00000304244 NM_005298.3 326 acC/acT 0 Silent C 23 GPR25 SNP 1 C T 199109766 199109766 Broad PRELP 5549 broad.mit.edu GRCh37 1 203453085 203453085 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000343110.2:c.773C>T p.Pro258Leu p.P258L ENST00000343110 NM_201348.1 258 cCt/cTt 0 Missense_Mutation C 24 PRELP SNP 1 C T 201719708 201719708 Broad SIPA1L2 57568 broad.mit.edu GRCh37 1 232650408 232650408 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000366630.1:c.678C>G p.Val226= p.V226= ENST00000366630 226 gtC/gtG 0 Silent G 41 SIPA1L2 SNP 1 G C 230717031 230717031 Broad NLRP3 114548 broad.mit.edu GRCh37 1 247597444 247597444 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000336119.3:c.2367C>G p.Asp789Glu p.D789E ENST00000336119 NM_001127462.2 789 gaC/gaG 0 Missense_Mutation C 17 NLRP3 SNP 1 C G 245664067 245664067 Broad OR2L2 26246 broad.mit.edu GRCh37 1 248201606 248201606 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000366479.2:c.37T>A p.Leu13Ile p.L13I ENST00000366479 NM_001004686.2 13 Tta/Ata 0 Missense_Mutation T 56 OR2L2 SNP 1 T A 246268229 246268229 Broad DIP2C 22982 broad.mit.edu GRCh37 10 390992 390992 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000280886.6:c.3290G>A p.Arg1097Lys p.R1097K ENST00000280886 NM_014974.2 1097 aGg/aAg 0 Missense_Mutation C 24 DIP2C SNP 10 C T 380992 380992 Broad GTPBP4 23560 broad.mit.edu GRCh37 10 1046802 1046802 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000360803.4:c.840C>T p.Ile280= p.I280= ENST00000360803 NM_012341.2 280 atC/atT 0 Silent C 29 GTPBP4 SNP 10 C T 1036802 1036802 Broad MAPK8 5599 broad.mit.edu GRCh37 10 49628339 49628339 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000374189.1:c.592C>T p.Leu198Phe p.L198F ENST00000374189 198 Ctt/Ttt 0 Missense_Mutation C 24 MAPK8 SNP 10 C T 49298345 49298345 Broad CSTF2T 23283 broad.mit.edu GRCh37 10 53458890 53458890 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000331173.4:c.420G>A p.Met140Ile p.M140I ENST00000331173 NM_015235.2 140 atG/atA 0 Missense_Mutation C 17 CSTF2T SNP 10 C T 53128896 53128896 Broad VCL 7414 broad.mit.edu GRCh37 10 75857087 75857087 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000211998.4:c.1869A>T p.Glu623Asp p.E623D ENST00000211998 NM_014000.2 623 gaA/gaT 0 Missense_Mutation A 3 VCL SNP 10 A T 75527093 75527093 Broad LDB1 8861 broad.mit.edu GRCh37 10 103869197 103869197 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000425280.1:c.800G>A p.Arg267His p.R267H ENST00000425280 NM_001113407.1 267 cGc/cAc 0 Missense_Mutation C 27 LDB1 SNP 10 C T 103859187 103859187 Broad SEC23IP 11196 broad.mit.edu GRCh37 10 121685734 121685734 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000369075.3:c.2308G>A p.Gly770Arg p.G770R ENST00000369075 NM_007190.3 770 Gga/Aga 0 Missense_Mutation G 39 SEC23IP SNP 10 G A 121675724 121675724 Broad MKI67 4288 broad.mit.edu GRCh37 10 129901621 129901621 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000368654.3:c.8483C>T p.Ser2828Leu p.S2828L ENST00000368654 NM_002417.4 2828 tCa/tTa 0 Missense_Mutation G 45 MKI67 SNP 10 G A 129791611 129791611 Broad MUC5B 727897 broad.mit.edu GRCh37 11 1247994 1247994 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000529681.1:c.349C>A p.Gln117Lys p.Q117K ENST00000529681 NM_002458.2 117 Cag/Aag 0 Missense_Mutation C 21 MUC5B SNP 11 C A 1204570 1204570 Broad RIC3 79608 broad.mit.edu GRCh37 11 8132397 8132397 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000309737.6:c.958G>C p.Ala320Pro p.A320P ENST00000309737 320 Gct/Cct 0 Missense_Mutation C 25 RIC3 SNP 11 C G 8088973 8088973 Broad OR5T2 219464 broad.mit.edu GRCh37 11 55999592 55999592 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000313264.4:c.1070C>A p.Thr357Asn p.T357N ENST00000313264 NM_001004746.1 357 aCt/aAt 0 Missense_Mutation G 36 OR5T2 SNP 11 G T 55756168 55756168 Broad SYT7 9066 broad.mit.edu GRCh37 11 61291333 61291333 + synonymous_variant Silent SNP C C G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000540677.1:c.1098G>C p.Arg366= p.R366= ENST00000540677 NM_001252065.1 366 cgG/cgC 0 Silent C 30 SYT7 SNP 11 C G 61047909 61047909 Broad FADS3 3995 broad.mit.edu GRCh37 11 61643837 61643837 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000278829.2:c.1074C>A p.Ser358Arg p.S358R ENST00000278829 NM_021727.3 358 agC/agA 0 Missense_Mutation G 34 FADS3 SNP 11 G T 61400413 61400413 Broad CACNA1C 775 broad.mit.edu GRCh37 12 2800095 2800095 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000347598.4:c.6291T>A p.Phe2097Leu p.F2097L ENST00000347598 NM_199460.2 2097 ttT/ttA 0 Missense_Mutation T 63 CACNA1C SNP 12 T A 2670356 2670356 Broad ARID2 196528 broad.mit.edu GRCh37 12 46245336 46245336 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000334344.6:c.3430C>T p.Pro1144Ser p.P1144S ENST00000334344 NM_152641.2 1144 Ccc/Tcc 0 Missense_Mutation C 26 ARID2 SNP 12 C T 44531603 44531603 Broad ZDHHC17 23390 broad.mit.edu GRCh37 12 77203581 77203581 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000426126.2:c.487C>T p.Leu163= p.L163= ENST00000426126 NM_015336.2 163 Ctg/Ttg 0 Silent C 32 ZDHHC17 SNP 12 C T 75727712 75727712 Broad TMPO 7112 broad.mit.edu GRCh37 12 98927521 98927521 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000266732.4:c.1486G>T p.Glu496Ter p.E496* ENST00000266732 NM_003276.2 496 Gaa/Taa 0 Nonsense_Mutation G 45 TMPO SNP 12 G T 97451652 97451652 Broad NOS1 4842 broad.mit.edu GRCh37 12 117665296 117665296 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000338101.4:c.3658C>A p.Pro1220Thr p.P1220T ENST00000338101 1220 Cca/Aca 0 Missense_Mutation G 43 NOS1 SNP 12 G T 116149679 116149679 Broad LECT1 11061 broad.mit.edu GRCh37 13 53277821 53277821 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000377962.3:c.914C>G p.Pro305Arg p.P305R ENST00000377962 305 cCa/cGa 0 Missense_Mutation G 47 LECT1 SNP 13 G C 52175822 52175822 Broad SLC10A2 6555 broad.mit.edu GRCh37 13 103703609 103703609 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G C novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000245312.3:c.759C>G p.Tyr253Ter p.Y253* ENST00000245312 NM_000452.2 253 taC/taG 0 Nonsense_Mutation G 48 SLC10A2 SNP 13 G C 102501610 102501610 Broad GMPR2 51292 broad.mit.edu GRCh37 14 24706359 24706359 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000420554.2:c.601+1G>C p.X201_splice ENST00000420554 NM_016576.3 0 Splice_Site_SNP G 44 GMPR2 SNP 14 G C 23776199 23776199 Broad L2HGDH 79944 broad.mit.edu GRCh37 14 50769692 50769692 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000267436.4:c.184G>C p.Ala62Pro p.A62P ENST00000267436 62 Gcc/Ccc 0 Missense_Mutation C 25 L2HGDH SNP 14 C G 49839442 49839442 Broad NAA30 122830 broad.mit.edu GRCh37 14 57858246 57858246 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000556492.1:c.571C>T p.Leu191= p.L191= ENST00000556492 NM_001011713.2 191 Ctg/Ttg 0 Silent C 24 NAA30 SNP 14 C T 56927999 56927999 Broad POMT2 29954 broad.mit.edu GRCh37 14 77762597 77762597 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000261534.4:c.1026G>T p.Val342= p.V342= ENST00000261534 NM_013382.5 342 gtG/gtT 0 Silent C 29 POMT2 SNP 14 C A 76832350 76832350 Broad NRDE2 55051 broad.mit.edu GRCh37 14 90769162 90769162 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000354366.3:c.1313A>C p.His438Pro p.H438P ENST00000354366 NM_017970.3 438 cAc/cCc 0 Missense_Mutation T 59 C14orf102 SNP 14 T G 89838915 89838915 Broad TTC7B 145567 broad.mit.edu GRCh37 14 91084326 91084326 + synonymous_variant Silent SNP A A T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000328459.6:c.1815T>A p.Thr605= p.T605= ENST00000328459 NM_001010854.1 605 acT/acA 0 Silent A 3 TTC7B SNP 14 A T 90154079 90154079 Broad SERPINA4 5267 broad.mit.edu GRCh37 14 95030122 95030122 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000557004.1:c.303C>A p.Ile101= p.I101= ENST00000557004 101 atC/atA 0 Silent C 30 SERPINA4 SNP 14 C A 94099875 94099875 Broad NPAP1 23742 broad.mit.edu GRCh37 15 24921335 24921335 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000329468.2:c.321G>T p.Arg107Ser p.R107S ENST00000329468 NM_018958.2 107 agG/agT 0 Missense_Mutation G 44 C15orf2 SNP 15 G T 22472428 22472428 Broad RYR3 6263 broad.mit.edu GRCh37 15 33895399 33895399 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000389232.4:c.1998C>T p.Ile666= p.I666= ENST00000389232 NM_001036.3 666 atC/atT 0 Silent C 31 RYR3 SNP 15 C T 31682691 31682691 Broad MTFMT 123263 broad.mit.edu GRCh37 15 65313950 65313950 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000220058.4:c.547G>A p.Asp183Asn p.D183N ENST00000220058 NM_139242.3 183 Gat/Aat 0 Missense_Mutation C 29 MTFMT SNP 15 C T 63101003 63101003 Broad HEXA 3073 broad.mit.edu GRCh37 15 72643496 72643496 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000268097.5:c.650C>G p.Thr217Ser p.T217S ENST00000268097 NM_000520.4 217 aCt/aGt 0 Missense_Mutation G 36 HEXA SNP 15 G C 70430550 70430550 Broad STOML1 9399 broad.mit.edu GRCh37 15 74276403 74276403 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000316900.5:c.1072G>C p.Asp358His p.D358H ENST00000316900 NM_001256675.1 358 Gac/Cac 0 Missense_Mutation C 32 STOML1 SNP 15 C G 72063456 72063456 Broad CIB2 10518 broad.mit.edu GRCh37 15 78403610 78403610 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000258930.3:c.95C>T p.Ser32Leu p.S32L ENST00000258930 NM_006383.3 32 tCg/tTg 0 Missense_Mutation G 37 CIB2 SNP 15 G A 76190665 76190665 Broad ZFAND6 54469 broad.mit.edu GRCh37 15 80415041 80415041 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000261749.6:c.264-1G>C p.X88_splice ENST00000261749 NM_019006.3 0 Splice_Site_SNP G 34 ZFAND6 SNP 15 G C 78202096 78202096 Broad FES 2242 broad.mit.edu GRCh37 15 91437172 91437172 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000328850.3:c.2210A>G p.Tyr737Cys p.Y737C ENST00000328850 NM_002005.3 737 tAc/tGc 0 Missense_Mutation A 14 FES SNP 15 A G 89238176 89238176 Broad DNAH3 55567 broad.mit.edu GRCh37 16 20970575 20970575 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000261383.3:c.10752C>T p.Ala3584= p.A3584= ENST00000261383 NM_017539.1 3584 gcC/gcT 0 Silent G 39 DNAH3 SNP 16 G A 20878076 20878076 Broad TANGO6 79613 broad.mit.edu GRCh37 16 69074314 69074314 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000261778.1:c.3098A>T p.Lys1033Ile p.K1033I ENST00000261778 NM_024562.1 1033 aAa/aTa 0 Missense_Mutation A 1 TMCO7 SNP 16 A T 67631815 67631815 Broad HYDIN 54768 broad.mit.edu GRCh37 16 71004648 71004648 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000393567.2:c.5394A>G p.Gln1798= p.Q1798= ENST00000393567 NM_001270974.1 1798 caA/caG 0 Silent T 64 HYDIN SNP 16 T C 69562149 69562149 Broad CNTNAP4 85445 broad.mit.edu GRCh37 16 76486529 76486529 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000478060.1:c.977G>A p.Arg326Gln p.R326Q ENST00000478060 NM_138994.3 326 cGa/cAa 0 Missense_Mutation G 37 CNTNAP4 SNP 16 G A 75044030 75044030 Broad PKD1L2 114780 broad.mit.edu GRCh37 16 81219172 81219172 + upstream_gene_variant 5'Flank SNP C C G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000527937 0 Missense_Mutation C 32 PKD1L2 SNP 16 C G 79776673 79776673 Broad CPNE7 27132 broad.mit.edu GRCh37 16 89651212 89651213 + missense_variant Missense_Mutation DNP GA GA TC novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000268720.5:c.763_764inv p.Glu255Ser p.E255S ENST00000268720 NM_014427.4 255 GAg/TCg 0 Missense_Mutation GA 41 CPNE7 DNP 16 GA TC 88178714 88178713 Broad SCARF1 8578 broad.mit.edu GRCh37 17 1548514 1548514 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000263071.4:c.121T>A p.Cys41Ser p.C41S ENST00000263071 NM_145350.2 41 Tgc/Agc 0 Missense_Mutation A 6 SCARF1 SNP 17 A T 1495264 1495264 Broad TP53 7157 broad.mit.edu GRCh37 17 7578204 7578204 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.645T>G p.Ser215Arg p.S215R ENST00000269305 NM_001126112.2 215 agT/agG 0 Missense_Mutation A 6 TP53 SNP 17 A C 7518929 7518929 Broad CHD3 1107 broad.mit.edu GRCh37 17 7794288 7794288 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000380358.4:c.592C>A p.Leu198Ile p.L198I ENST00000380358 NM_001005271.2 198 Ctt/Att 0 Missense_Mutation C 28 CHD3 SNP 17 C A 7735013 7735013 Broad RSKR 124923 broad.mit.edu GRCh37 17 26940298 26940298 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000301037.5:c.390A>T p.Lys130Asn p.K130N ENST00000301037 NM_001174103.1 130 aaA/aaT 0 Missense_Mutation T 56 FLJ25006 SNP 17 T A 23964425 23964425 Broad EPN3 55040 broad.mit.edu GRCh37 17 48618164 48618164 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000268933.3:c.990G>A p.Pro330= p.P330= ENST00000268933 NM_017957.2 330 ccG/ccA 0 Silent G 37 EPN3 SNP 17 G A 45973163 45973163 Broad HEATR6 63897 broad.mit.edu GRCh37 17 58149580 58149580 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000184956.6:c.695G>T p.Cys232Phe p.C232F ENST00000184956 NM_022070.4 232 tGc/tTc 0 Missense_Mutation C 25 HEATR6 SNP 17 C A 55504362 55504362 Broad TANC2 26115 broad.mit.edu GRCh37 17 61417678 61417678 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000424789.2:c.1570G>A p.Glu524Lys p.E524K ENST00000424789 NM_025185.3 524 Gaa/Aaa 0 Missense_Mutation G 33 TANC2 SNP 17 G A 58771410 58771410 Broad SAP30BP 29115 broad.mit.edu GRCh37 17 73698616 73698616 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000584667.1:c.453C>T p.Tyr151= p.Y151= ENST00000584667 NM_013260.6 151 taC/taT 0 Silent C 17 SAP30BP SNP 17 C T 71210211 71210211 Broad EPG5 57724 broad.mit.edu GRCh37 18 43438530 43438530 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000282041.5:c.7226+1G>T p.X2409_splice ENST00000282041 NM_020964.2 0 Splice_Site_SNP C 18 KIAA1632 SNP 18 C A 41692528 41692528 Broad C18orf54 162681 broad.mit.edu GRCh37 18 51887077 51887077 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000300091.5:c.135C>A p.Tyr45Ter p.Y45* ENST00000300091 NM_173529.4 45 taC/taA 0 Nonsense_Mutation C 17 C18orf54 SNP 18 C A 50141075 50141075 Broad ZCCHC2 54877 broad.mit.edu GRCh37 18 60212089 60212089 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000269499.5:c.1183C>G p.Gln395Glu p.Q395E ENST00000269499 NM_017742.4 395 Cag/Gag 0 Missense_Mutation C 17 ZCCHC2 SNP 18 C G 58363069 58363069 Broad TRIP10 9322 broad.mit.edu GRCh37 19 6744700 6744700 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000313285.8:c.778G>A p.Asp260Asn p.D260N ENST00000313285 NM_004240.2 260 Gat/Aat 0 Missense_Mutation G 41 TRIP10 SNP 19 G A 6695700 6695700 Broad ZNF791 163049 broad.mit.edu GRCh37 19 12738844 12738844 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000343325.4:c.501A>C p.Lys167Asn p.K167N ENST00000343325 NM_153358.2 167 aaA/aaC 0 Missense_Mutation A 1 ZNF791 SNP 19 A C 12599844 12599844 Broad ARMC6 93436 broad.mit.edu GRCh37 19 19168264 19168264 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000535612.1:c.1333G>A p.Gly445Ser p.G445S ENST00000535612 NM_001199196.1 445 Ggc/Agc 0 Missense_Mutation G 39 ARMC6 SNP 19 G A 19029264 19029264 Broad KMT2B 9757 broad.mit.edu GRCh37 19 36211245 36211245 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000222270.7:c.996T>C p.His332= p.H332= ENST00000222270 NM_014727.1 332 caT/caC 0 Silent T 51 MLL4 SNP 19 T C 40903085 40903085 Broad LGALS13 29124 broad.mit.edu GRCh37 19 40095962 40095962 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000221797.4:c.237C>T p.Asp79= p.D79= ENST00000221797 NM_013268.2 79 gaC/gaT 0 Silent C 20 LGALS13 SNP 19 C T 44787802 44787802 Broad CYP2A13 1553 broad.mit.edu GRCh37 19 41594390 41594390 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000330436.3:c.14G>A p.Gly5Glu p.G5E ENST00000330436 NM_000766.4 5 gGg/gAg 0 Missense_Mutation G 43 CYP2A13 SNP 19 G A 46286230 46286230 Broad CIC 23152 broad.mit.edu GRCh37 19 42798212 42798212 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000575354.2:c.4166C>T p.Ser1389Phe p.S1389F ENST00000575354 NM_015125.3 1389 tCt/tTt 0 Missense_Mutation C 32 CIC SNP 19 C T 47490052 47490052 Broad VASP 7408 broad.mit.edu GRCh37 19 46021267 46021267 + synonymous_variant Silent SNP C C G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000245932.6:c.258C>G p.Arg86= p.R86= ENST00000245932 NM_003370.3 86 cgC/cgG 0 Silent C 26 VASP SNP 19 C G 50713107 50713107 Broad CABP5 56344 broad.mit.edu GRCh37 19 48543905 48543905 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000293255.2:c.195G>T p.Thr65= p.T65= ENST00000293255 NM_019855.4 65 acG/acT 0 Silent C 23 CABP5 SNP 19 C A 53235717 53235717 Broad KLK2 3817 broad.mit.edu GRCh37 19 51381738 51381738 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000325321.3:c.709C>T p.Pro237Ser p.P237S ENST00000325321 237 Cct/Tct 0 Missense_Mutation C 26 KLK2 SNP 19 C T 56073550 56073550 Broad ZNF628 89887 broad.mit.edu GRCh37 19 55992829 55992829 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000598519.1:c.269G>T p.Arg90Leu p.R90L ENST00000598519 NM_033113.2 90 cGg/cTg 0 Missense_Mutation G 39 ZNF628 SNP 19 G T 60684641 60684641 Broad PEG3 5178 broad.mit.edu GRCh37 19 57326014 57326014 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000326441.9:c.3796G>T p.Gly1266Cys p.G1266C ENST00000326441 NM_006210.2 1266 Ggc/Tgc 0 Missense_Mutation C 24 PEG3 SNP 19 C A 62017826 62017826 Broad DUXA 503835 broad.mit.edu GRCh37 19 57670639 57670639 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000554048.2:c.188T>G p.Phe63Cys p.F63C ENST00000554048 NM_001012729.1 63 tTt/tGt 0 Missense_Mutation A 1 DUXA SNP 19 A C 62362451 62362451 Broad ZNF551 90233 broad.mit.edu GRCh37 19 58199588 58199588 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000282296.5:c.1945G>T p.Gly649Trp p.G649W ENST00000282296 649 Ggg/Tgg 0 Missense_Mutation G 47 ZNF551 SNP 19 G T 62891400 62891400 Broad FSHR 2492 broad.mit.edu GRCh37 2 49190293 49190293 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000406846.2:c.1667T>A p.Val556Glu p.V556E ENST00000406846 NM_000145.3 556 gTg/gAg 0 Missense_Mutation A 6 FSHR SNP 2 A T 49043797 49043797 Broad CNTNAP5 129684 broad.mit.edu GRCh37 2 125530384 125530384 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000431078.1:c.2539G>A p.Glu847Lys p.E847K ENST00000431078 NM_130773.3 847 Gag/Aag 0 Missense_Mutation G 33 CNTNAP5 SNP 2 G A 125246854 125246854 Broad RIF1 55183 broad.mit.edu GRCh37 2 152314397 152314397 + synonymous_variant Silent SNP A A G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000243326.5:c.2775A>G p.Lys925= p.K925= ENST00000243326 925 aaA/aaG 0 Silent A 2 RIF1 SNP 2 A G 152022643 152022643 Broad TTN 7273 broad.mit.edu GRCh37 2 179444569 179444569 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.67355C>T p.Pro22452Leu p.P22452L ENST00000589042 NM_001267550.1 22452 cCt/cTt 0 Missense_Mutation G 35 TTN SNP 2 G A 179152815 179152815 Broad MYO1B 4430 broad.mit.edu GRCh37 2 192194709 192194709 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000392318.3:c.300G>A p.Lys100= p.K100= ENST00000392318 NM_001130158.1 100 aaG/aaA 0 Silent G 35 MYO1B SNP 2 G A 191902954 191902954 Broad PLEKHM3 389072 broad.mit.edu GRCh37 2 208842237 208842237 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000427836.2:c.684G>A p.Trp228Ter p.W228* ENST00000427836 NM_001080475.2 228 tgG/tgA 0 Nonsense_Mutation C 26 PLEKHM3 SNP 2 C T 208550482 208550482 Broad DGKD 8527 broad.mit.edu GRCh37 2 234377201 234377201 + splice_donor_variant Splice_Site SNP T T G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000264057.2:c.3555+2T>G p.X1185_splice ENST00000264057 NM_152879.2 0 Splice_Site_SNP T 57 DGKD SNP 2 T G 234041940 234041940 Broad RRBP1 6238 broad.mit.edu GRCh37 20 17622516 17622516 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000377807.2:c.811G>A p.Glu271Lys p.E271K ENST00000377807 NM_001042576.1 271 Gag/Aag 0 Missense_Mutation C 32 RRBP1 SNP 20 C T 17570516 17570516 Broad CYYR1 116159 broad.mit.edu GRCh37 21 27840846 27840847 + missense_variant Missense_Mutation DNP GA GA TT novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000299340.4:c.438_439delinsAA p.Pro147Thr p.P147T ENST00000299340 NM_052954.2 146 ccTCct/ccAAct 0 Missense_Mutation GA 41 CYYR1 DNP 21 GA TT 26762718 26762717 Broad MX1 4599 broad.mit.edu GRCh37 21 42830551 42830551 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000398600.2:c.1855C>A p.Leu619Ile p.L619I ENST00000398600 NM_001144925.1 619 Ctc/Atc 0 Missense_Mutation C 28 MX1 SNP 21 C A 41752421 41752421 Broad C2CD2 25966 broad.mit.edu GRCh37 21 43327769 43327769 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000380486.3:c.1143G>A p.Glu381= p.E381= ENST00000380486 NM_015500.1 381 gaG/gaA 0 Silent C 24 C2CD2 SNP 21 C T 42200838 42200838 Broad CCT8L2 150160 broad.mit.edu GRCh37 22 17072357 17072357 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000359963.3:c.1084G>C p.Val362Leu p.V362L ENST00000359963 NM_014406.4 362 Gta/Cta 0 Missense_Mutation C 18 CCT8L2 SNP 22 C G 15452357 15452357 Broad SPECC1L 23384 broad.mit.edu GRCh37 22 24718635 24718635 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000314328.9:c.1687G>C p.Glu563Gln p.E563Q ENST00000314328 NM_015330.4 563 Gag/Cag 0 Missense_Mutation G 33 CYTSA SNP 22 G C 23048635 23048635 Broad DEPDC5 9681 broad.mit.edu GRCh37 22 32253538 32253538 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000382112.3:c.3236A>G p.Lys1079Arg p.K1079R ENST00000382112 NM_001136029.2 1079 aAg/aGg 0 Missense_Mutation A 3 DEPDC5 SNP 22 A G 30583538 30583538 Broad EFCAB6 64800 broad.mit.edu GRCh37 22 44068186 44068186 + splice_acceptor_variant Splice_Site SNP C C A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000262726.7:c.1420-1G>T p.X474_splice ENST00000262726 NM_022785.3 0 Splice_Site_SNP C 32 EFCAB6 SNP 22 C A 42399519 42399519 Broad SLC9C1 285335 broad.mit.edu GRCh37 3 111888085 111888085 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000305815.5:c.3010G>A p.Ala1004Thr p.A1004T ENST00000305815 NM_183061.1 1004 Gct/Act 0 Missense_Mutation C 27 SLC9A10 SNP 3 C T 113370775 113370775 Broad TNFSF10 8743 broad.mit.edu GRCh37 3 172241138 172241139 + missense_variant Missense_Mutation DNP CC CC TT novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000241261.2:c.36_37delinsAA p.Gly13Arg p.G13R ENST00000241261 NM_003810.3 12 ctGGga/ctAAga 0 Missense_Mutation CC 22 TNFSF10 DNP 3 CC TT 173723833 173723832 Broad FAM193A 8603 broad.mit.edu GRCh37 4 2701701 2701701 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000324666.5:c.2929G>A p.Glu977Lys p.E977K ENST00000324666 NM_001256666.1 977 Gaa/Aaa 0 Missense_Mutation G 45 FAM193A SNP 4 G A 2671499 2671499 Broad UGT2B4 7363 broad.mit.edu GRCh37 4 70359437 70359437 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000305107.6:c.844T>A p.Cys282Ser p.C282S ENST00000305107 NM_021139.2 282 Tgc/Agc 0 Missense_Mutation A 7 UGT2B4 SNP 4 A T 70394026 70394026 Broad NAA15 80155 broad.mit.edu GRCh37 4 140283064 140283064 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000296543.5:c.1726G>C p.Glu576Gln p.E576Q ENST00000296543 NM_057175.3 576 Gag/Cag 0 Missense_Mutation G 45 NAA15 SNP 4 G C 140502514 140502514 Broad FAT1 2195 broad.mit.edu GRCh37 4 187542865 187542865 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000441802.2:c.4875A>C p.Leu1625Phe p.L1625F ENST00000441802 NM_005245.3 1625 ttA/ttC 0 Missense_Mutation T 53 FAT1 SNP 4 T G 187779859 187779859 Broad PRDM9 56979 broad.mit.edu GRCh37 5 23522908 23522908 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000296682.3:c.796G>A p.Asp266Asn p.D266N ENST00000296682 NM_020227.2 266 Gat/Aat 0 Missense_Mutation G 45 PRDM9 SNP 5 G A 23558665 23558665 Broad RAPGEF6 51735 broad.mit.edu GRCh37 5 130764612 130764612 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000296859.6:c.4787C>A p.Ala1596Glu p.A1596E ENST00000296859 1596 gCa/gAa 0 Missense_Mutation G 46 RAPGEF6 SNP 5 G T 130792511 130792511 Broad PCDHA4 56144 broad.mit.edu GRCh37 5 140187172 140187172 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000530339.1:c.400C>T p.Pro134Ser p.P134S ENST00000530339 NM_018907.2 134 Cca/Tca 0 Missense_Mutation C 22 PCDHA4 SNP 5 C T 140167356 140167356 Broad PCDHGB7 56099 broad.mit.edu GRCh37 5 140798423 140798423 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000398594.2:c.997G>A p.Val333Ile p.V333I ENST00000398594 NM_018927.3 333 Gta/Ata 0 Missense_Mutation G 36 PCDHGB7 SNP 5 G A 140778607 140778607 Broad NHP2 55651 broad.mit.edu GRCh37 5 177576776 177576776 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000274606.3:c.400G>A p.Glu134Lys p.E134K ENST00000274606 NM_017838.3 134 Gag/Aag 0 Missense_Mutation C 30 NHP2 SNP 5 C T 177509382 177509382 Broad NHP2 55651 broad.mit.edu GRCh37 5 177576839 177576839 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000274606.3:c.337G>A p.Asp113Asn p.D113N ENST00000274606 NM_017838.3 113 Gac/Aac 0 Missense_Mutation C 30 NHP2 SNP 5 C T 177509445 177509445 Broad FLT4 2324 broad.mit.edu GRCh37 5 180053199 180053200 + missense_variant Missense_Mutation DNP TG TG CT novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000261937.6:c.1169_1170delinsAG p.Thr390Lys p.T390K ENST00000261937 NM_182925.4 390 aCA/aAG 0 Missense_Mutation TG 55 FLT4 DNP 5 TG CT 179985806 179985805 Broad NUP153 9972 broad.mit.edu GRCh37 6 17637764 17637764 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000262077.2:c.2084C>G p.Thr695Ser p.T695S ENST00000262077 NM_001278210.1 695 aCt/aGt 0 Missense_Mutation G 36 NUP153 SNP 6 G C 17745743 17745743 Broad HIST1H2BH 8345 broad.mit.edu GRCh37 6 26252104 26252104 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000356350.2:c.226G>A p.Gly76Ser p.G76S ENST00000356350 NM_003524.2 76 Ggc/Agc 0 Missense_Mutation G 39 HIST1H2BH SNP 6 G A 26360083 26360083 Broad RP5-874C20.3 broad.mit.edu GRCh37 6 28243995 28243995 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000421553.2:n.829G>A *277* ENST00000421553 0 Missense_Mutation G 47 ZNF187 SNP 6 G A 28351974 28351974 Broad HLA-E 3133 broad.mit.edu GRCh37 6 30457681 30457681 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000376630.4:c.243G>T p.Trp81Cys p.W81C ENST00000376630 NM_005516.5 81 tgG/tgT 0 Missense_Mutation G 43 HLA-E SNP 6 G T 30565660 30565660 Broad VARS2 57176 broad.mit.edu GRCh37 6 30887984 30887984 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000541562.1:c.1374C>T p.Asp458= p.D458= ENST00000541562 NM_001167734.1 458 gaC/gaT 0 Silent C 20 VARS2 SNP 6 C T 30995963 30995963 Broad TAPBP 6892 broad.mit.edu GRCh37 6 33273059 33273059 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000426633.2:c.575C>T p.Ala192Val p.A192V ENST00000426633 NM_172208.2 192 gCc/gTc 0 Missense_Mutation G 42 TAPBP SNP 6 G A 33381037 33381037 Broad PHF1 5252 broad.mit.edu GRCh37 6 33382068 33382068 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000374516.3:c.801G>A p.Lys267= p.K267= ENST00000374516 NM_024165.2 267 aaG/aaA 0 Silent G 33 PHF1 SNP 6 G A 33490046 33490046 Broad PNPLA1 285848 broad.mit.edu GRCh37 6 36262168 36262168 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000394571.2:c.706G>A p.Asp236Asn p.D236N ENST00000394571 NM_001145717.1 236 Gac/Aac 0 Missense_Mutation G 41 PNPLA1 SNP 6 G A 36370146 36370146 Broad GPR115 221393 broad.mit.edu GRCh37 6 47682262 47682262 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000283303.2:c.1281G>A p.Trp427Ter p.W427* ENST00000283303 NM_153838.3 427 tgG/tgA 0 Nonsense_Mutation G 44 GPR115 SNP 6 G A 47790221 47790221 Broad BEND6 221336 broad.mit.edu GRCh37 6 56857226 56857227 + missense_variant Missense_Mutation DNP GG GG TT novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000370746.3:c.171_172delinsTT p.Glu57_Asp58delinsAspTyr p.E57_D58delinsDY ENST00000370746 NM_152731.2 57 gaGGat/gaTTat 0 Missense_Mutation GG 35 BEND6 DNP 6 GG TT 56965186 56965185 Broad RIMS1 22999 broad.mit.edu GRCh37 6 72984071 72984071 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000521978.1:c.3418C>T p.Leu1140= p.L1140= ENST00000521978 NM_014989.5 1140 Cta/Tta 0 Silent C 24 RIMS1 SNP 6 C T 73040792 73040792 Broad TXLNB 167838 broad.mit.edu GRCh37 6 139563822 139563822 + synonymous_variant Silent SNP A A G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000358430.3:c.1896T>C p.Ala632= p.A632= ENST00000358430 NM_153235.3 632 gcT/gcC 0 Silent A 11 TXLNB SNP 6 A G 139605515 139605515 Broad ELMO1 9844 broad.mit.edu GRCh37 7 37382282 37382282 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000310758.4:c.13G>A p.Ala5Thr p.A5T ENST00000310758 NM_014800.10 5 Gcg/Acg 0 Missense_Mutation C 27 ELMO1 SNP 7 C T 37348807 37348807 Broad ZMIZ2 83637 broad.mit.edu GRCh37 7 44796130 44796130 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000309315.4:c.157C>G p.Gln53Glu p.Q53E ENST00000309315 NM_031449.3 53 Cag/Gag 0 Missense_Mutation C 17 ZMIZ2 SNP 7 C G 44762655 44762655 Broad COBL 23242 broad.mit.edu GRCh37 7 51152900 51152900 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000265136.7:c.1059C>G p.Arg353= p.R353= ENST00000265136 NM_015198.3 353 cgC/cgG 0 Silent G 46 COBL SNP 7 G C 51120394 51120394 Broad STAG3 10734 broad.mit.edu GRCh37 7 99786618 99786618 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000426455.1:c.694C>A p.Arg232Ser p.R232S ENST00000426455 NM_001282716.1 232 Cgt/Agt 0 Missense_Mutation C 23 STAG3 SNP 7 C A 99624554 99624554 Broad GCC1 79571 broad.mit.edu GRCh37 7 127222568 127222568 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000321407.2:c.1828G>T p.Ala610Ser p.A610S ENST00000321407 NM_024523.5 610 Gcc/Tcc 0 Missense_Mutation C 26 GCC1 SNP 7 C A 127009804 127009804 Broad C7orf33 202865 broad.mit.edu GRCh37 7 148311284 148311284 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000307003.2:c.355G>A p.Gly119Ser p.G119S ENST00000307003 NM_145304.2 119 Ggc/Agc 0 Missense_Mutation G 43 C7orf33 SNP 7 G A 147942217 147942217 Broad PLAG1 5324 broad.mit.edu GRCh37 8 57079711 57079711 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000316981.3:c.594G>A p.Lys198= p.K198= ENST00000316981 NM_002655.2 198 aaG/aaA 0 Silent C 24 PLAG1 SNP 8 C T 57242265 57242265 Broad RGS22 26166 broad.mit.edu GRCh37 8 100999756 100999756 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000360863.6:c.3110G>T p.Arg1037Leu p.R1037L ENST00000360863 NM_015668.3 1037 cGt/cTt 0 Missense_Mutation C 19 RGS22 SNP 8 C A 101068932 101068932 Broad DENND3 22898 broad.mit.edu GRCh37 8 142199087 142199087 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000262585.2:c.2847C>T p.Asn949= p.N949= ENST00000262585 NM_014957.2 949 aaC/aaT 0 Silent C 20 DENND3 SNP 8 C T 142268269 142268269 Broad TMEM246 84302 broad.mit.edu GRCh37 9 104239360 104239360 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000374851.1:c.15C>T p.Thr5= p.T5= ENST00000374851 5 acC/acT 0 Silent G 35 C9orf125 SNP 9 G A 103279181 103279181 Broad TSC1 7248 broad.mit.edu GRCh37 9 135777066 135777067 + missense_variant Missense_Mutation DNP CC CC TG novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000298552.3:c.2411_2412delinsCA p.Arg804Thr p.R804T ENST00000298552 NM_001162426.1 804 aGG/aCA 0 Missense_Mutation CC 30 TSC1 DNP 9 CC TG 134766888 134766887 Broad VAV2 7410 broad.mit.edu GRCh37 9 136656973 136656973 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000371850.3:c.1120A>C p.Asn374His p.N374H ENST00000371850 NM_001134398.1 374 Aat/Cat 0 Missense_Mutation T 63 VAV2 SNP 9 T G 135646794 135646794 Broad USP11 8237 broad.mit.edu GRCh37 X 47100769 47100769 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000218348.3:c.1069G>A p.Glu357Lys p.E357K ENST00000218348 NM_004651.3 357 Gag/Aag 0 Missense_Mutation G 45 USP11 SNP 23 G A 46985713 46985713 Broad SYP 6855 broad.mit.edu GRCh37 X 49049789 49049789 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000263233.4:c.555G>C p.Gln185His p.Q185H ENST00000263233 NM_003179.2 185 caG/caC 0 Missense_Mutation C 32 SYP SNP 23 C G 48936733 48936733 Broad ITIH6 347365 broad.mit.edu GRCh37 X 54785126 54785126 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown x x x ENST00000218436.6:c.1381C>A p.Gln461Lys p.Q461K ENST00000218436 NM_198510.2 461 Cag/Aag 0 Missense_Mutation G 48 ITIH5L SNP 23 G T 54801851 54801851 Broad NBPF16 728936 broad.mit.edu GRCh37 1 148753327 148753336 + frameshift_variant Frame_Shift_Del DEL AGATTATCTT AGATTATCTT - novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000417839.1:c.1344_1353del p.Asp449AsnfsTer5 p.D449Nfs*5 ENST00000417839 NM_001102663.1 448 tcAGATTATCTT/tc 0 Frame_Shift_Del AGATTATCTT 7 NBPF16 DEL 1 - AGATTATCTT 147019960 147019951 Broad IGSF9 57549 broad.mit.edu GRCh37 1 159904242 159904253 + inframe_deletion In_Frame_Del DEL AGGGTGGATGCA AGGGTGGATGCA - novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000368094.1:c.923_934del p.Leu308_Ser312delinsPro p.L308_S312delinsP ENST00000368094 NM_001135050.1 308 cTGCATCCACCCTca/cca 0 In_Frame_Del AGGGTGGATGCA 11 IGSF9 DEL 1 - AGGGTGGATGCA 158170877 158170866 Broad SPEF2 79925 broad.mit.edu GRCh37 5 35793313 35793313 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000356031.3:c.4608del p.Lys1537SerfsTer4 p.K1537Sfs*4 ENST00000356031 NM_024867.3 1536 cGg/cg 0 Frame_Shift_Del G 39 SPEF2 DEL 5 - G 35829070 35829070 Broad PLOD3 8985 broad.mit.edu GRCh37 7 100853880 100853889 + frameshift_variant Frame_Shift_Del DEL TGGGGCAGCT TGGGGCAGCT - novel Unknown TCGA-61-1998-01 TCGA-61-1998-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000223127.3:c.1424_1433del p.Glu475GlyfsTer29 p.E475Gfs*29 ENST00000223127 NM_001084.4 475 gAGCTGCCCCAg/gg 0 Frame_Shift_Del TGGGGCAGCT 55 PLOD3 DEL 7 - TGGGGCAGCT 100640609 100640600 Broad EIF3I 8668 broad.mit.edu GRCh37 1 32688148 32688148 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000373586.1:c.13C>G p.Leu5Val p.L5V ENST00000373586 NM_003757.2 5 Cta/Gta 0 Missense_Mutation C 24 EIF3I SNP 1 C G 32460735 32460735 Broad ZNF518A 9849 broad.mit.edu GRCh37 10 97916343 97916343 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000534948.1:n.1121G>C *374* ENST00000534948 0 Missense_Mutation G 33 ZNF518A SNP 10 G C 97906333 97906333 Broad TLL2 7093 broad.mit.edu GRCh37 10 98205874 98205874 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000357947.3:c.338A>C p.Asp113Ala p.D113A ENST00000357947 NM_012465.3 113 gAc/gCc 0 Missense_Mutation T 58 TLL2 SNP 10 T G 98195864 98195864 Broad EDRF1 26098 broad.mit.edu GRCh37 10 127424457 127424457 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000356792.4:c.1742C>A p.Ser581Tyr p.S581Y ENST00000356792 NM_001202438.1 581 tCt/tAt 0 Missense_Mutation C 32 C10orf137 SNP 10 C A 127414447 127414447 Broad USP35 57558 broad.mit.edu GRCh37 11 77907406 77907406 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000529308.1:c.115C>T p.Leu39= p.L39= ENST00000529308 NM_020798.2 39 Ctg/Ttg 0 Silent C 24 USP35 SNP 11 C T 77585054 77585054 Broad GAB2 9846 broad.mit.edu GRCh37 11 77937726 77937726 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000361507.4:c.992C>A p.Thr331Asn p.T331N ENST00000361507 NM_080491.2 331 aCt/aAt 0 Missense_Mutation G 36 GAB2 SNP 11 G T 77615374 77615374 Broad FAT3 120114 broad.mit.edu GRCh37 11 92430605 92430606 + missense_variant Missense_Mutation DNP TC TC CA novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000298047.6:c.3663_3664delinsCA p.Leu1222Met p.L1222M ENST00000298047 1221 ttTCtg/ttCAtg 0 Missense_Mutation TC 62 FAT3 DNP 11 TC CA 92070254 92070253 Broad AMOTL1 154810 broad.mit.edu GRCh37 11 94533388 94533388 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000433060.2:c.1032G>C p.Glu344Asp p.E344D ENST00000433060 NM_130847.2 344 gaG/gaC 0 Missense_Mutation G 33 AMOTL1 SNP 11 G C 94173036 94173036 Broad AASDHPPT 60496 broad.mit.edu GRCh37 11 105948610 105948610 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000278618.4:c.173A>G p.Lys58Arg p.K58R ENST00000278618 NM_015423.2 58 aAg/aGg 0 Missense_Mutation A 3 AASDHPPT SNP 11 A G 105453820 105453820 Broad SIK3 23387 broad.mit.edu GRCh37 11 116734491 116734491 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000292055.4:c.1678C>T p.Arg560Cys p.R560C ENST00000292055 NM_025164.3 560 Cgt/Tgt 0 Missense_Mutation G 38 SIK3 SNP 11 G A 116239701 116239701 Broad AKAP11 11215 broad.mit.edu GRCh37 13 42873737 42873737 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000025301.2:c.855T>C p.Ser285= p.S285= ENST00000025301 NM_016248.3 285 tcT/tcC 0 Silent T 53 AKAP11 SNP 13 T C 41771737 41771737 Broad HCN4 10021 broad.mit.edu GRCh37 15 73616093 73616093 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000261917.3:c.2341C>G p.Pro781Ala p.P781A ENST00000261917 NM_005477.2 781 Cca/Gca 0 Missense_Mutation G 44 HCN4 SNP 15 G C 71403146 71403146 Broad SNAI3 333929 broad.mit.edu GRCh37 16 88747606 88747606 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000332281.5:c.593T>C p.Leu198Pro p.L198P ENST00000332281 NM_178310.3 198 cTc/cCc 0 Missense_Mutation A 11 SNAI3 SNP 16 A G 87275107 87275107 Broad TP53 7157 broad.mit.edu GRCh37 17 7577539 7577539 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.742C>T p.Arg248Trp p.R248W ENST00000269305 NM_001126112.2 248 Cgg/Tgg 0 Missense_Mutation G 39 TP53 SNP 17 G A 7518264 7518264 Broad KLHL14 57565 broad.mit.edu GRCh37 18 30260462 30260462 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000359358.4:c.1339G>A p.Glu447Lys p.E447K ENST00000359358 NM_020805.1 447 Gaa/Aaa 0 Missense_Mutation C 32 KLHL14 SNP 18 C T 28514460 28514460 Broad NETO1 81832 broad.mit.edu GRCh37 18 70451060 70451060 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 T A T T Unknown Valid Somatic x x 454_PCR_WGA x ENST00000327305.6:c.721A>T p.Ser241Cys p.S241C ENST00000327305 NM_138966.3 241 Agt/Tgt 0 Missense_Mutation T 55 NETO1 SNP 18 T A 68602040 68602040 Broad EMR1 2015 broad.mit.edu GRCh37 19 6937605 6937605 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000312053.4:c.2601C>A p.Ser867= p.S867= ENST00000312053 NM_001974.4 867 tcC/tcA 0 Silent C 22 EMR1 SNP 19 C A 6888605 6888605 Broad C19orf53 28974 broad.mit.edu GRCh37 19 13885312 13885312 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000588234.1:c.21G>C p.Lys7Asn p.K7N ENST00000588234 NM_014047.2 7 aaG/aaC 0 Missense_Mutation G 36 C19orf53 SNP 19 G C 13746312 13746312 Broad C19orf53 28974 broad.mit.edu GRCh37 19 13888905 13888905 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000588234.1:c.193G>A p.Val65Met p.V65M ENST00000588234 NM_014047.2 65 Gtg/Atg 0 Missense_Mutation G 40 C19orf53 SNP 19 G A 13749905 13749905 Broad ZNF112 7771 broad.mit.edu GRCh37 19 44831653 44831653 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000337401.4:c.2675A>G p.Glu892Gly p.E892G ENST00000337401 NM_001083335.1 892 gAa/gGa 0 Missense_Mutation T 62 ZFP112 SNP 19 T C 49523493 49523493 Broad FBXO46 23403 broad.mit.edu GRCh37 19 46215218 46215218 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000317683.3:c.1536G>A p.Val512= p.V512= ENST00000317683 NM_001080469.1 512 gtG/gtA 0 Silent C 25 FBXO46 SNP 19 C T 50907058 50907058 Broad CYTH2 9266 broad.mit.edu GRCh37 19 48975660 48975660 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000452733.2:c.313G>T p.Gly105Trp p.G105W ENST00000452733 105 Ggg/Tgg 0 Missense_Mutation G 43 CYTH2 SNP 19 G T 53667472 53667472 Broad PAX8 7849 broad.mit.edu GRCh37 2 113999127 113999127 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000429538.3:c.777+1G>T p.X259_splice ENST00000429538 NM_003466.3 0 Missense_Mutation C 18 PAX8 SNP 2 C A 113715597 113715597 Broad CSF2RB 1439 broad.mit.edu GRCh37 22 37334149 37334149 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 G T G T Unknown Valid Germline x x Sequenom_PCR_WGA x ENST00000403662.3:c.2299G>T p.Val767Leu p.V767L ENST00000403662 767 Gtg/Ttg 0 Missense_Mutation G 48 CSF2RB SNP 22 G T 35664095 35664095 Broad LDOC1L 84247 broad.mit.edu GRCh37 22 44893392 44893392 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000341255.3:c.45A>G p.Ala15= p.A15= ENST00000341255 NM_032287.2 15 gcA/gcG 0 Silent T 55 LDOC1L SNP 22 T C 43272056 43272056 Broad ZCWPW2 152098 broad.mit.edu GRCh37 3 28454757 28454757 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000383768.2:c.198A>G p.Ser66= p.S66= ENST00000383768 66 tcA/tcG 0 Silent A 5 ZCWPW2 SNP 3 A G 28429761 28429761 Broad WDR82 80335 broad.mit.edu GRCh37 3 52295435 52295435 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000296490.3:c.387G>C p.Lys129Asn p.K129N ENST00000296490 NM_025222.3 129 aaG/aaC 0 Missense_Mutation C 32 WDR82 SNP 3 C G 52270475 52270475 Broad ADAMTS16 170690 broad.mit.edu GRCh37 5 5318344 5318344 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000274181.7:c.3509C>T p.Ser1170Leu p.S1170L ENST00000274181 NM_139056.2 1170 tCg/tTg 0 Missense_Mutation C 31 ADAMTS16 SNP 5 C T 5371344 5371344 Broad FBXW11 23291 broad.mit.edu GRCh37 5 171318554 171318554 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265094.5:c.706C>T p.Arg236Cys p.R236C ENST00000265094 NM_012300.2 236 Cgc/Tgc 0 Missense_Mutation G 39 FBXW11 SNP 5 G A 171251159 171251159 Broad CYP21A2 1589 broad.mit.edu GRCh37 6 32006283 32006283 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000418967.2:c.84C>T p.Leu28= p.L28= ENST00000418967 NM_000500.7 28 ctC/ctT 0 Silent C 30 CYP21A2 SNP 6 C T 32114262 32114262 Broad TRRAP 8295 broad.mit.edu GRCh37 7 98553852 98553852 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000359863.4:c.6000C>T p.Ile2000= p.I2000= ENST00000359863 NM_001244580.1 2000 atC/atT 0 Silent C 31 TRRAP SNP 7 C T 98391788 98391788 Broad MOGAT3 346606 broad.mit.edu GRCh37 7 100842084 100842084 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000223114.4:c.316G>T p.Asp106Tyr p.D106Y ENST00000223114 NM_178176.2 106 Gat/Tat 0 Missense_Mutation C 30 MOGAT3 SNP 7 C A 100628804 100628804 Broad WDR91 29062 broad.mit.edu GRCh37 7 134880941 134880941 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000354475.4:c.1199G>C p.Gly400Ala p.G400A ENST00000354475 NM_014149.3 400 gGa/gCa 0 Missense_Mutation C 30 WDR91 SNP 7 C G 134531481 134531481 Broad MFHAS1 9258 broad.mit.edu GRCh37 8 8750063 8750063 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000276282.6:c.506G>T p.Arg169Leu p.R169L ENST00000276282 NM_004225.2 169 cGg/cTg 0 Missense_Mutation C 23 MFHAS1 SNP 8 C A 8787473 8787473 Broad SPATC1 375686 broad.mit.edu GRCh37 8 145095090 145095090 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000377470.3:c.492C>T p.Thr164= p.T164= ENST00000377470 NM_198572.2 164 acC/acT 0 Silent C 22 SPATC1 SNP 8 C T 145167078 145167078 Broad ZNF7 7553 broad.mit.edu GRCh37 8 146067488 146067488 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000528372.1:c.996G>T p.Arg332Ser p.R332S ENST00000528372 332 agG/agT 0 Missense_Mutation G 42 ZNF7 SNP 8 G T 146038292 146038292 Broad FAM120C 54954 broad.mit.edu GRCh37 X 54106713 54106713 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000375180.2:c.2988A>T p.Lys996Asn p.K996N ENST00000375180 NM_017848.4 996 aaA/aaT 0 Missense_Mutation T 56 FAM120C SNP 23 T A 54123438 54123438 Broad ARMCX2 9823 broad.mit.edu GRCh37 X 100911660 100911660 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000328766.5:c.915C>T p.Asp305= p.D305= ENST00000328766 NM_014782.5 305 gaC/gaT 0 Silent G 40 ARMCX2 SNP 23 G A 100798316 100798316 Broad MAGEA11 4110 broad.mit.edu GRCh37 X 148797857 148797857 null Silent SNP A A G novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x 0 Silent A 12 MAGEA11 SNP 23 A G 148576548 148576548 Broad L1CAM 3897 broad.mit.edu GRCh37 X 153136544 153136544 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown x x x ENST00000370060.1:c.491C>T p.Ala164Val p.A164V ENST00000370060 NM_001278116.1 164 gCa/gTa 0 Missense_Mutation G 46 L1CAM SNP 23 G A 152789738 152789738 Broad UBL4B 164153 broad.mit.edu GRCh37 1 110655663 110655663 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000334179.3:c.508del p.Ala170GlnfsTer80 p.A170Qfs*80 ENST00000334179 NM_203412.1 169 gaG/ga 0 Frame_Shift_Del G 35 UBL4B DEL 1 - G 110457186 110457186 Broad NRXN2 9379 broad.mit.edu GRCh37 11 64375285 64375286 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-24-1551-01 TCGA-24-1551-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000265459.6:c.4521dupC p.Thr1508HisfsTer82 p.T1508Hfs*82 ENST00000265459 NM_015080.3 1507 -/C 0 Frame_Shift_Ins - 59 NRXN2 INS 11 G - 64131862 64131861 Broad SEPN1 57190 broad.mit.edu GRCh37 1 26127534 26127534 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000361547.2:c.184G>T p.Glu62Ter p.E62* ENST00000361547 NM_020451.2 62 Gaa/Taa 0 Nonsense_Mutation G 41 SEPN1 SNP 1 G T 26000121 26000121 Broad ATXN7L2 127002 broad.mit.edu GRCh37 1 110029637 110029637 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000369870.3:c.307C>T p.His103Tyr p.H103Y ENST00000369870 NM_153340.4 103 Cat/Tat 0 Missense_Mutation C 17 ATXN7L2 SNP 1 C T 109831160 109831160 Broad ANKRD35 148741 broad.mit.edu GRCh37 1 145563052 145563052 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000355594.4:c.2740G>A p.Glu914Lys p.E914K ENST00000355594 NM_144698.4 914 Gag/Aag 0 Missense_Mutation G 33 ANKRD35 SNP 1 G A 144274409 144274409 Broad S100A6 6277 broad.mit.edu GRCh37 1 153507756 153507756 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000368720.2:c.60C>A p.Ser20= p.S20= ENST00000368720 20 tcC/tcA 0 Silent G 39 S100A6 SNP 1 G T 151774380 151774380 Broad RHBG 57127 broad.mit.edu GRCh37 1 156351673 156351673 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000368249.1:c.917G>T p.Gly306Val p.G306V ENST00000368249 NM_020407.4 306 gGg/gTg 0 Missense_Mutation G 43 RHBG SNP 1 G T 154618297 154618297 Broad NES 10763 broad.mit.edu GRCh37 1 156645082 156645082 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000368223.3:c.834C>A p.Ile278= p.I278= ENST00000368223 NM_006617.1 278 atC/atA 0 Silent G 37 NES SNP 1 G T 154911706 154911706 Broad INSRR 3645 broad.mit.edu GRCh37 1 156823591 156823591 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000368195.3:c.590G>T p.Ser197Ile p.S197I ENST00000368195 NM_014215.2 197 aGc/aTc 0 Missense_Mutation C 28 INSRR SNP 1 C A 155090215 155090215 Broad RABGAP1L 9910 broad.mit.edu GRCh37 1 174190127 174190127 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000251507.4:c.156T>G p.Asp52Glu p.D52E ENST00000251507 NM_014857.4 52 gaT/gaG 0 Missense_Mutation T 51 RABGAP1L SNP 1 T G 172456750 172456750 Broad CENPF 1063 broad.mit.edu GRCh37 1 214813302 214813302 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000366955.3:c.1621C>T p.Gln541Ter p.Q541* ENST00000366955 NM_016343.3 541 Caa/Taa 0 Nonsense_Mutation C 29 CENPF SNP 1 C T 212879925 212879925 Broad RAB3GAP2 25782 broad.mit.edu GRCh37 1 220338134 220338134 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000358951.2:c.3095G>A p.Arg1032His p.R1032H ENST00000358951 NM_012414.3 1032 cGt/cAt 0 Missense_Mutation C 19 RAB3GAP2 SNP 1 C T 218404757 218404757 Broad OR2M2 391194 broad.mit.edu GRCh37 1 248343349 248343349 + missense_variant Missense_Mutation SNP G G A rs34678055 Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000359682.2:c.62G>A p.Ser21Asn p.S21N ENST00000359682 NM_001004688.1 21 aGc/aAc 0 Missense_Mutation G 34 OR2M2 SNP 1 G A 246409972 246409972 Broad ZEB1 6935 broad.mit.edu GRCh37 10 31809760 31809760 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000361642.5:c.1500T>C p.Ala500= p.A500= ENST00000361642 NM_001174093.1 500 gcT/gcC 0 Silent T 53 ZEB1 SNP 10 T C 31849766 31849766 Broad OR10A5 144124 broad.mit.edu GRCh37 11 6867497 6867497 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000299454.4:c.584T>A p.Leu195Gln p.L195Q ENST00000299454 195 cTg/cAg 0 Missense_Mutation T 55 OR10A5 SNP 11 T A 6824073 6824073 Broad MED19 219541 broad.mit.edu GRCh37 11 57472256 57472256 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000337672.2:c.506A>T p.Gln169Leu p.Q169L ENST00000337672 NM_153450.1 169 cAg/cTg 0 Missense_Mutation T 55 MED19 SNP 11 T A 57228832 57228832 Broad ZFP91 80829 broad.mit.edu GRCh37 11 58384963 58384963 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000316059.6:c.1497G>C p.Leu499Phe p.L499F ENST00000316059 NM_001197051.1 499 ttG/ttC 0 Missense_Mutation G 47 ZFP91 SNP 11 G C 58141539 58141539 Broad PELI3 246330 broad.mit.edu GRCh37 11 66243418 66243418 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000320740.7:c.1190G>C p.Trp397Ser p.W397S ENST00000320740 NM_145065.2 397 tGg/tCg 0 Missense_Mutation G 47 PELI3 SNP 11 G C 65999994 65999994 Broad USP2 9099 broad.mit.edu GRCh37 11 119229841 119229841 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000260187.2:c.1065G>C p.Gln355His p.Q355H ENST00000260187 NM_004205.4 355 caG/caC 0 Missense_Mutation C 28 USP2 SNP 11 C G 118735051 118735051 Broad ATF7IP 55729 broad.mit.edu GRCh37 12 14577314 14577314 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000261168.4:c.465C>A p.Thr155= p.T155= ENST00000261168 NM_018179.3 155 acC/acA 0 Silent C 24 ATF7IP SNP 12 C A 14468581 14468581 Broad ABCC9 10060 broad.mit.edu GRCh37 12 22086847 22086847 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000261200.4:c.153C>T p.Ser51= p.S51= ENST00000261200 NM_020297.2 51 agC/agT 0 Silent G 42 ABCC9 SNP 12 G A 21978114 21978114 Broad SLC38A1 81539 broad.mit.edu GRCh37 12 46601010 46601010 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000398637.5:c.491G>A p.Ser164Asn p.S164N ENST00000398637 NM_030674.3 164 aGc/aAc 0 Missense_Mutation C 28 SLC38A1 SNP 12 C T 44887277 44887277 Broad ELMSAN1 91748 broad.mit.edu GRCh37 14 74205748 74205748 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000286523.5:c.964C>T p.Arg322Cys p.R322C ENST00000286523 NM_194278.3 322 Cgc/Tgc 0 Missense_Mutation G 38 C14orf43 SNP 14 G A 73275501 73275501 Broad DLK1 8788 broad.mit.edu GRCh37 14 101200564 101200564 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000341267.4:c.483C>T p.Gly161= p.G161= ENST00000341267 NM_003836.5 161 ggC/ggT 0 Silent C 28 DLK1 SNP 14 C T 100270317 100270317 Broad NUTM1 256646 broad.mit.edu GRCh37 15 34648712 34648712 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000333756.4:c.2419G>T p.Gly807Ter p.G807* ENST00000333756 NM_175741.1 807 Gga/Tga 0 Nonsense_Mutation G 35 C15orf55 SNP 15 G T 32436004 32436004 Broad PLCB2 5330 broad.mit.edu GRCh37 15 40594162 40594162 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000260402.3:c.578G>A p.Gly193Asp p.G193D ENST00000260402 NM_004573.2 193 gGc/gAc 0 Missense_Mutation C 26 PLCB2 SNP 15 C T 38381454 38381454 Broad LTK 4058 broad.mit.edu GRCh37 15 41796296 41796296 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000263800.6:c.2493G>C p.Trp831Cys p.W831C ENST00000263800 NM_002344.5 831 tgG/tgC 0 Missense_Mutation C 22 LTK SNP 15 C G 39583588 39583588 Broad ZWILCH 55055 broad.mit.edu GRCh37 15 66816042 66816042 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000307897.5:c.775A>G p.Arg259Gly p.R259G ENST00000307897 NM_017975.3 259 Aga/Gga 0 Missense_Mutation A 7 ZWILCH SNP 15 A G 64603096 64603096 Broad CASKIN1 57524 broad.mit.edu GRCh37 16 2239081 2239081 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000343516.6:c.564C>G p.Asn188Lys p.N188K ENST00000343516 NM_020764.3 188 aaC/aaG 0 Missense_Mutation G 40 CASKIN1 SNP 16 G C 2179082 2179082 Broad XYLT1 64131 broad.mit.edu GRCh37 16 17292121 17292121 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000261381.6:c.1237G>A p.Asp413Asn p.D413N ENST00000261381 NM_022166.3 413 Gac/Aac 0 Missense_Mutation C 31 XYLT1 SNP 16 C T 17199622 17199622 Broad HYDIN 54768 broad.mit.edu GRCh37 16 70954717 70954717 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000393567.2:c.7562C>T p.Thr2521Met p.T2521M ENST00000393567 NM_001270974.1 2521 aCg/aTg 0 Missense_Mutation G 40 HYDIN SNP 16 G A 69512218 69512218 Broad COL1A1 1277 broad.mit.edu GRCh37 17 48272424 48272424 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000225964.5:c.1337G>C p.Gly446Ala p.G446A ENST00000225964 NM_000088.3 446 gGt/gCt 0 Missense_Mutation C 18 COL1A1 SNP 17 C G 45627423 45627423 Broad INSR 3643 broad.mit.edu GRCh37 19 7125412 7125412 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000302850.5:c.3140A>T p.Lys1047Met p.K1047M ENST00000302850 NM_000208.2 1047 aAg/aTg 0 Missense_Mutation T 56 INSR SNP 19 T A 7076412 7076412 Broad FBXW9 84261 broad.mit.edu GRCh37 19 12800620 12800620 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000393261.3:c.1101G>C p.Leu367= p.L367= ENST00000393261 NM_032301.2 367 ctG/ctC 0 Silent C 25 FBXW9 SNP 19 C G 12661620 12661620 Broad ZNF565 147929 broad.mit.edu GRCh37 19 36674015 36674015 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000392173.2:c.853G>A p.Gly285Ser p.G285S ENST00000392173 NM_001042474.1 285 Ggc/Agc 0 Missense_Mutation C 21 ZNF565 SNP 19 C T 41365855 41365855 Broad POLD1 5424 broad.mit.edu GRCh37 19 50921184 50921184 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000440232.2:c.3304C>G p.Pro1102Ala p.P1102A ENST00000440232 NM_002691.3 1102 Cct/Gct 0 Missense_Mutation C 22 POLD1 SNP 19 C G 55612996 55612996 Broad BIRC6 57448 broad.mit.edu GRCh37 2 32617172 32617172 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000421745.2:c.905G>C p.Arg302Thr p.R302T ENST00000421745 NM_016252.3 302 aGg/aCg 0 Missense_Mutation G 35 BIRC6 SNP 2 G C 32470676 32470676 Broad USP34 9736 broad.mit.edu GRCh37 2 61607472 61607472 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000398571.2:c.846G>C p.Gln282His p.Q282H ENST00000398571 NM_014709.3 282 caG/caC 0 Missense_Mutation C 24 USP34 SNP 2 C G 61460976 61460976 Broad SPRED2 200734 broad.mit.edu GRCh37 2 65572001 65572001 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000356388.4:c.56T>A p.Val19Glu p.V19E ENST00000356388 NM_181784.2 19 gTg/gAg 0 Missense_Mutation A 6 SPRED2 SNP 2 A T 65425505 65425505 Broad ELMOD3 84173 broad.mit.edu GRCh37 2 85598611 85598611 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000315658.7:c.533T>A p.Ile178Asn p.I178N ENST00000315658 NM_032213.4 178 aTc/aAc 0 Missense_Mutation T 50 ELMOD3 SNP 2 T A 85452122 85452122 Broad POTEF 728378 broad.mit.edu GRCh37 2 130877789 130877789 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000357462.5:c.300G>T p.Lys100Asn p.K100N ENST00000357462 100 aaG/aaT 0 Missense_Mutation C 20 POTEF SNP 2 C A 130594259 130594259 Broad TTN 7273 broad.mit.edu GRCh37 2 179622389 179622389 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.10558G>T p.Gly3520Cys p.G3520C ENST00000589042 NM_001267550.1 3520 Ggc/Tgc 0 Missense_Mutation C 24 TTN SNP 2 C A 179330634 179330634 Broad PAX3 5077 broad.mit.edu GRCh37 2 223084942 223084942 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000392069.2:c.1090T>G p.Ser364Ala p.S364A ENST00000392069 NM_001127366.2 364 Tcc/Gcc 0 Missense_Mutation A 9 PAX3 SNP 2 A C 222793186 222793186 Broad CEP250 11190 broad.mit.edu GRCh37 20 34085800 34085800 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000397527.1:c.3559T>C p.Ser1187Pro p.S1187P ENST00000397527 NM_007186.3 1187 Tct/Cct 0 Missense_Mutation T 54 CEP250 SNP 20 T C 33549214 33549214 Broad KCNG1 3755 broad.mit.edu GRCh37 20 49626624 49626624 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000371571.4:c.252C>A p.Phe84Leu p.F84L ENST00000371571 NM_002237.3 84 ttC/ttA 0 Missense_Mutation G 41 KCNG1 SNP 20 G T 49060031 49060031 Broad MST1R 4486 broad.mit.edu GRCh37 3 49933181 49933181 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000296474.3:c.2929G>T p.Val977Phe p.V977F ENST00000296474 NM_002447.2 977 Gtc/Ttc 0 Missense_Mutation C 18 MST1R SNP 3 C A 49908185 49908185 Broad NISCH 11188 broad.mit.edu GRCh37 3 52524801 52524801 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000345716.4:c.3694C>A p.Leu1232Met p.L1232M ENST00000345716 NM_007184.3 1232 Ctg/Atg 0 Missense_Mutation C 24 NISCH SNP 3 C A 52499841 52499841 Broad COL6A6 131873 broad.mit.edu GRCh37 3 130368274 130368274 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000358511.6:c.5601C>T p.Ala1867= p.A1867= ENST00000358511 NM_001102608.1 1867 gcC/gcT 0 Silent C 21 COL6A6 SNP 3 C T 131850964 131850964 Broad CABS1 85438 broad.mit.edu GRCh37 4 71201072 71201072 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000273936.5:c.316A>G p.Ile106Val p.I106V ENST00000273936 NM_033122.3 106 Ata/Gta 0 Missense_Mutation A 8 C4orf35 SNP 4 A G 71235661 71235661 Broad MAP9 79884 broad.mit.edu GRCh37 4 156281397 156281397 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000311277.4:c.973G>T p.Asp325Tyr p.D325Y ENST00000311277 NM_001039580.1 325 Gat/Tat 0 Missense_Mutation C 29 MAP9 SNP 4 C A 156500847 156500847 Broad MYO10 4651 broad.mit.edu GRCh37 5 16701433 16701433 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000513610.1:c.3071G>A p.Arg1024Gln p.R1024Q ENST00000513610 NM_012334.2 1024 cGg/cAg 0 Missense_Mutation C 23 MYO10 SNP 5 C T 16754433 16754433 Broad CMYA5 202333 broad.mit.edu GRCh37 5 79033853 79033853 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000446378.2:c.9265G>T p.Glu3089Ter p.E3089* ENST00000446378 NM_153610.3 3089 Gaa/Taa 0 Nonsense_Mutation G 33 CMYA5 SNP 5 G T 79069609 79069609 Broad LNPEP 4012 broad.mit.edu GRCh37 5 96314940 96314940 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000231368.5:c.118G>T p.Glu40Ter p.E40* ENST00000231368 NM_005575.2 40 Gag/Tag 0 Nonsense_Mutation G 33 LNPEP SNP 5 G T 96340696 96340696 Broad CUL7 9820 broad.mit.edu GRCh37 6 43017367 43017367 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000535468.1:c.1855G>A p.Val619Met p.V619M ENST00000535468 NM_014780.4 619 Gtg/Atg 0 Missense_Mutation C 19 CUL7 SNP 6 C T 43125345 43125345 Broad KHDRBS2 202559 broad.mit.edu GRCh37 6 62604663 62604663 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000281156.4:c.687C>G p.Thr229= p.T229= ENST00000281156 NM_152688.2 229 acC/acG 0 Silent G 43 KHDRBS2 SNP 6 G C 62662622 62662622 Broad ROS1 6098 broad.mit.edu GRCh37 6 117665264 117665264 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000368508.3:c.4483A>G p.Asn1495Asp p.N1495D ENST00000368508 NM_002944.2 1495 Aat/Gat 0 Missense_Mutation T 61 ROS1 SNP 6 T C 117771957 117771957 Broad GRM1 2911 broad.mit.edu GRCh37 6 146351325 146351325 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000361719.2:c.672G>T p.Trp224Cys p.W224C ENST00000361719 224 tgG/tgT 0 Missense_Mutation G 41 GRM1 SNP 6 G T 146393018 146393018 Broad ABCB5 340273 broad.mit.edu GRCh37 7 20766691 20766691 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000404938.2:c.2654G>A p.Arg885His p.R885H ENST00000404938 NM_001163941.1 885 cGt/cAt 0 Missense_Mutation G 40 ABCB5 SNP 7 G A 20733216 20733216 Broad MYO1G 64005 broad.mit.edu GRCh37 7 45016532 45016532 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000258787.7:c.234C>G p.Leu78= p.L78= ENST00000258787 NM_033054.2 78 ctC/ctG 0 Silent G 33 MYO1G SNP 7 G C 44983057 44983057 Broad RBM48 84060 broad.mit.edu GRCh37 7 92164249 92164249 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000265732.5:c.982A>G p.Thr328Ala p.T328A ENST00000265732 NM_032120.2 328 Aca/Gca 0 Missense_Mutation A 14 C7orf64 SNP 7 A G 92002185 92002185 Broad HEPACAM2 253012 broad.mit.edu GRCh37 7 92844819 92844819 + missense_variant Missense_Mutation SNP G G C rs35608547 Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000394468.2:c.610C>G p.Leu204Val p.L204V ENST00000394468 NM_001039372.1 204 Ctt/Gtt 0 Missense_Mutation G 35 HEPACAM2 SNP 7 G C 92682755 92682755 Broad AHCYL2 23382 broad.mit.edu GRCh37 7 129040167 129040167 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000325006.3:c.860A>G p.Asp287Gly p.D287G ENST00000325006 NM_001130720.2 287 gAt/gGt 0 Missense_Mutation A 12 AHCYL2 SNP 7 A G 128827403 128827403 Broad EYA1 2138 broad.mit.edu GRCh37 8 72267025 72267025 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000340726.3:c.116G>A p.Gly39Asp p.G39D ENST00000340726 NM_000503.4 39 gGc/gAc 0 Missense_Mutation C 26 EYA1 SNP 8 C T 72429579 72429579 Broad TG 7038 broad.mit.edu GRCh37 8 134034381 134034381 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000220616.4:c.7022G>T p.Gly2341Val p.G2341V ENST00000220616 NM_003235.4 2341 gGc/gTc 0 Missense_Mutation G 42 TG SNP 8 G T 134103563 134103563 Broad ADAMTSL1 92949 broad.mit.edu GRCh37 9 18777219 18777219 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000380548.4:c.2992C>A p.Gln998Lys p.Q998K ENST00000380548 NM_001040272.5 998 Cag/Aag 0 Missense_Mutation C 21 ADAMTSL1 SNP 9 C A 18767219 18767219 Broad TBX22 50945 broad.mit.edu GRCh37 X 79281244 79281244 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 Unknown Unknown Unknown x x x ENST00000373294.5:c.601C>A p.Leu201Ile p.L201I ENST00000373294 NM_016954.2 201 Ctc/Atc 0 Missense_Mutation C 20 TBX22 SNP 23 C A 79167900 79167900 Broad TP53 7157 broad.mit.edu GRCh37 17 7577566 7577567 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-13-0883-01 TCGA-13-0883-10 A - - - Unknown Valid Somatic Phase_I Capture Illumina GAIIx ENST00000269305.4:c.714dupT p.Asn239Ter p.N239* ENST00000269305 NM_001126112.2 238 -/T 0 Frame_Shift_Ins - 61 TP53 INS 17 A - 7518292 7518291 Broad BAI2 576 broad.mit.edu GRCh37 1 32207319 32207319 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000373658.3:c.1593T>G p.His531Gln p.H531Q ENST00000373658 NM_001703.2 531 caT/caG 0 Missense_Mutation A 8 BAI2 SNP 1 A C 31979906 31979906 Broad SGIP1 84251 broad.mit.edu GRCh37 1 67147567 67147567 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000371037.4:c.830C>A p.Ala277Asp p.A277D ENST00000371037 NM_032291.2 277 gCc/gAc 0 Missense_Mutation C 26 SGIP1 SNP 1 C A 66920155 66920155 Broad RORC 6097 broad.mit.edu GRCh37 1 151785423 151785423 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000318247.6:c.1285C>T p.His429Tyr p.H429Y ENST00000318247 NM_005060.3 429 Cat/Tat 0 Missense_Mutation G 39 RORC SNP 1 G A 150052047 150052047 Broad PEAR1 375033 broad.mit.edu GRCh37 1 156882745 156882745 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000338302.3:c.2393G>A p.Arg798His p.R798H ENST00000338302 798 cGc/cAc 0 Missense_Mutation G 38 PEAR1 SNP 1 G A 155149369 155149369 Broad CCSER2 54462 broad.mit.edu GRCh37 10 86131416 86131416 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000224756.8:c.608T>C p.Leu203Ser p.L203S ENST00000224756 NM_018999.2 203 tTa/tCa 0 Missense_Mutation T 61 FAM190B SNP 10 T C 86121396 86121396 Broad COL17A1 1308 broad.mit.edu GRCh37 10 105837231 105837231 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000353479.5:c.151C>A p.Arg51= p.R51= ENST00000353479 NM_000494.3 51 Cgg/Agg 0 Silent G 39 COL17A1 SNP 10 G T 105827221 105827221 Broad MKI67 4288 broad.mit.edu GRCh37 10 129907445 129907445 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000368654.3:c.2659C>T p.Leu887= p.L887= ENST00000368654 NM_002417.4 887 Cta/Tta 0 Silent G 34 MKI67 SNP 10 G A 129797435 129797435 Broad ANO3 63982 broad.mit.edu GRCh37 11 26681991 26681991 + stop_retained_variant Silent SNP G G A novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000256737.3:c.2946G>A p.Ter982= p.*982= ENST00000256737 NM_031418.2 982 taG/taA 0 Silent G 36 ANO3 SNP 11 G A 26638567 26638567 Broad CARD17 440068 broad.mit.edu GRCh37 11 104972138 104972138 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000375707.1:c.4G>C p.Ala2Pro p.A2P ENST00000375707 NM_001007232.1 2 Gcc/Ccc 0 Missense_Mutation C 26 CARD17 SNP 11 C G 104477348 104477348 Broad TUBA3C 7278 broad.mit.edu GRCh37 13 19748092 19748092 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000400113.3:c.1264C>G p.Arg422Gly p.R422G ENST00000400113 NM_006001.2 422 Cgc/Ggc 0 Missense_Mutation G 39 TUBA3C SNP 13 G C 18646092 18646092 Broad DYNC1H1 1778 broad.mit.edu GRCh37 14 102516871 102516871 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000360184.4:c.13912C>T p.Arg4638Trp p.R4638W ENST00000360184 NM_001376.4 4638 Cgg/Tgg 0 Missense_Mutation C 27 DYNC1H1 SNP 14 C T 101586624 101586624 Broad FBXL16 146330 broad.mit.edu GRCh37 16 745879 745879 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000397621.1:c.678G>C p.Ser226= p.S226= ENST00000397621 NM_153350.3 226 tcG/tcC 0 Silent C 23 FBXL16 SNP 16 C G 685880 685880 Broad HYDIN 54768 broad.mit.edu GRCh37 16 70954718 70954718 + missense_variant Missense_Mutation SNP T T G rs67115747 Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000393567.2:c.7561A>C p.Thr2521Pro p.T2521P ENST00000393567 NM_001270974.1 2521 Acg/Ccg 0 Missense_Mutation T 59 HYDIN SNP 16 T G 69512219 69512219 Broad TP53 7157 broad.mit.edu GRCh37 17 7577571 7577571 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.710T>A p.Met237Lys p.M237K ENST00000269305 NM_001126112.2 237 aTg/aAg 0 Missense_Mutation A 8 TP53 SNP 17 A T 7518296 7518296 Broad SLC5A10 125206 broad.mit.edu GRCh37 17 18872683 18872683 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000395647.2:c.588C>T p.Asp196= p.D196= ENST00000395647 NM_152351.4 196 gaC/gaT 0 Silent C 19 SLC5A10 SNP 17 C T 18813408 18813408 Broad ALDOC 230 broad.mit.edu GRCh37 17 26900842 26900842 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000226253.4:c.910C>T p.Arg304Cys p.R304C ENST00000226253 NM_005165.2 304 Cgt/Tgt 0 Missense_Mutation G 38 ALDOC SNP 17 G A 23924969 23924969 Broad KRT13 3860 broad.mit.edu GRCh37 17 39657518 39657518 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000246635.3:c.1367G>A p.Arg456His p.R456H ENST00000246635 NM_153490.2 456 cGt/cAt 0 Missense_Mutation C 19 KRT13 SNP 17 C T 36911044 36911044 Broad JUP 3728 broad.mit.edu GRCh37 17 39919263 39919263 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000393931.3:c.1469A>G p.Asn490Ser p.N490S ENST00000393931 NM_002230.2 490 aAc/aGc 0 Missense_Mutation T 60 JUP SNP 17 T C 37172789 37172789 Broad EPB41L3 23136 broad.mit.edu GRCh37 18 5434019 5434019 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000341928.2:c.707A>T p.Glu236Val p.E236V ENST00000341928 NM_012307.3 236 gAg/gTg 0 Missense_Mutation T 54 EPB41L3 SNP 18 T A 5424019 5424019 Broad NOL4 8715 broad.mit.edu GRCh37 18 31523137 31523137 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000261592.5:c.1434A>G p.Arg478= p.R478= ENST00000261592 NM_001198546.1 478 cgA/cgG 0 Silent T 58 NOL4 SNP 18 T C 29777135 29777135 Broad SERPINB13 5275 broad.mit.edu GRCh37 18 61260156 61260156 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000344731.5:c.423C>T p.Ala141= p.A141= ENST00000344731 NM_012397.3 141 gcC/gcT 0 Silent C 23 SERPINB13 SNP 18 C T 59411136 59411136 Broad TSHZ1 10194 broad.mit.edu GRCh37 18 72998116 72998116 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000322038.5:c.619A>T p.Ser207Cys p.S207C ENST00000322038 NM_005786.5 207 Agt/Tgt 0 Missense_Mutation A 7 TSHZ1 SNP 18 A T 71127104 71127104 Broad MED26 9441 broad.mit.edu GRCh37 19 16686872 16686872 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000263390.3:c.1769G>A p.Arg590His p.R590H ENST00000263390 NM_004831.3 590 cGc/cAc 0 Missense_Mutation C 27 MED26 SNP 19 C T 16547872 16547872 Broad NLRP11 204801 broad.mit.edu GRCh37 19 56307535 56307535 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000443188.1:c.2253G>C p.Leu751= p.L751= ENST00000443188 NM_145007.3 751 ctG/ctC 0 Silent C 29 NLRP11 SNP 19 C G 60999347 60999347 Broad ZNF773 374928 broad.mit.edu GRCh37 19 58016146 58016146 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000282292.4:c.155C>A p.Ala52Asp p.A52D ENST00000282292 NM_198542.1 52 gCc/gAc 0 Missense_Mutation C 26 ZNF773 SNP 19 C A 62707958 62707958 Broad TRAPPC12 51112 broad.mit.edu GRCh37 2 3469378 3469378 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000324266.5:c.1688T>C p.Leu563Pro p.L563P ENST00000324266 NM_016030.5 563 cTg/cCg 0 Missense_Mutation T 55 TTC15 SNP 2 T C 3448385 3448385 Broad GLI2 2736 broad.mit.edu GRCh37 2 121747071 121747071 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000452319.1:c.3581G>A p.Ser1194Asn p.S1194N ENST00000452319 1194 aGc/aAc 0 Missense_Mutation G 34 GLI2 SNP 2 G A 121463541 121463541 Broad COL4A4 1286 broad.mit.edu GRCh37 2 227942761 227942761 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000396625.3:c.1836A>G p.Lys612= p.K612= ENST00000396625 NM_000092.4 612 aaA/aaG 0 Silent T 56 COL4A4 SNP 2 T C 227651005 227651005 Broad INSM1 3642 broad.mit.edu GRCh37 20 20350306 20350306 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000310227.1:c.1395C>G p.Ala465= p.A465= ENST00000310227 NM_002196.2 465 gcC/gcG 0 Silent C 23 INSM1 SNP 20 C G 20298306 20298306 Broad CST3 1471 broad.mit.edu GRCh37 20 23615890 23615890 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000398411.1:c.357+1G>T p.X119_splice ENST00000398411 NM_001288614.1 0 Splice_Site_SNP C 18 CST3 SNP 20 C A 23563890 23563890 Broad ZNF335 63925 broad.mit.edu GRCh37 20 44596990 44596990 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000322927.2:c.454G>C p.Val152Leu p.V152L ENST00000322927 NM_022095.3 152 Gtg/Ctg 0 Missense_Mutation C 17 ZNF335 SNP 20 C G 44030397 44030397 Broad SLC12A5 57468 broad.mit.edu GRCh37 20 44678386 44678386 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000454036.2:c.2207G>A p.Gly736Asp p.G736D ENST00000454036 NM_001134771.1 736 gGc/gAc 0 Missense_Mutation G 42 SLC12A5 SNP 20 G A 44111793 44111793 Broad STAC 6769 broad.mit.edu GRCh37 3 36534720 36534720 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000273183.3:c.765C>T p.Ser255= p.S255= ENST00000273183 NM_003149.1 255 agC/agT 0 Silent C 27 STAC SNP 3 C T 36509724 36509724 Broad PRKCI 5584 broad.mit.edu GRCh37 3 169999697 169999697 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 T G T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000295797.4:c.1008T>G p.Asn336Lys p.N336K ENST00000295797 NM_002740.5 336 aaT/aaG 0 Missense_Mutation T 51 PRKCI SNP 3 T G 171482391 171482391 Broad CCNA2 890 broad.mit.edu GRCh37 4 122742220 122742220 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 T G T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000274026.5:c.484A>C p.Ile162Leu p.I162L ENST00000274026 NM_001237.3 162 Att/Ctt 0 Missense_Mutation T 52 CCNA2 SNP 4 T G 122961670 122961670 Broad CDH9 1007 broad.mit.edu GRCh37 5 26885780 26885780 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000231021.4:c.1825G>A p.Ala609Thr p.A609T ENST00000231021 NM_016279.3 609 Gcc/Acc 0 Missense_Mutation C 28 CDH9 SNP 5 C T 26921537 26921537 Broad PARP8 79668 broad.mit.edu GRCh37 5 50128649 50128649 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000281631.5:c.2268C>T p.Asp756= p.D756= ENST00000281631 NM_024615.3 756 gaC/gaT 0 Silent C 19 PARP8 SNP 5 C T 50164406 50164406 Broad WWC1 23286 broad.mit.edu GRCh37 5 167891765 167891765 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000521089.1:c.2966G>A p.Arg989His p.R989H ENST00000521089 989 cGt/cAt 0 Missense_Mutation G 40 WWC1 SNP 5 G A 167824343 167824343 Broad ITPR3 3710 broad.mit.edu GRCh37 6 33639804 33639804 + splice_acceptor_variant Splice_Site SNP A A G novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000374316.5:c.2729-2A>G p.X910_splice ENST00000374316 0 Splice_Site_SNP A 7 ITPR3 SNP 6 A G 33747782 33747782 Broad MLIP 90523 broad.mit.edu GRCh37 6 53989390 53989390 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000274897.5:c.339A>C p.Ala113= p.A113= ENST00000274897 NM_138569.2 113 gcA/gcC 0 Silent A 5 C6orf142 SNP 6 A C 54097349 54097349 Broad MTO1 25821 broad.mit.edu GRCh37 6 74191780 74191780 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000415954.2:c.1398C>A p.Ile466= p.I466= ENST00000415954 NM_001123226.1 466 atC/atA 0 Silent C 29 MTO1 SNP 6 C A 74248501 74248501 Broad SYNE1 23345 broad.mit.edu GRCh37 6 152776693 152776693 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown x x x ENST00000367255.5:c.2760G>C p.Lys920Asn p.K920N ENST00000367255 NM_182961.3 920 aaG/aaC 0 Missense_Mutation C 28 SYNE1 SNP 6 C G 152818386 152818386 Broad MRPS17 51373 broad.mit.edu GRCh37 7 55990969 55990969 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000426595.1:c.163C>A p.Leu55Ile p.L55I ENST00000426595 55 Cta/Ata 0 Missense_Mutation C 32 ZNF713 SNP 7 C A 55958463 55958463 Broad EYA1 2138 broad.mit.edu GRCh37 8 72234073 72234073 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000340726.3:c.314C>G p.Thr105Ser p.T105S ENST00000340726 NM_000503.4 105 aCt/aGt 0 Missense_Mutation G 36 EYA1 SNP 8 G C 72396627 72396627 Broad SON 6651 broad.mit.edu GRCh37 21 34925612 34925635 + inframe_deletion In_Frame_Del DEL GTCCTGGAGTCTTCGGCTGTGACC GTCCTGGAGTCTTCGGCTGTGACC - novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000356577.4:c.4090_4113delGCTGTGACCGTCCTGGAGTCTTCG p.Ala1364_Ser1371del p.A1364_S1371del ENST00000356577 NM_138927.2 1359 GTCCTGGAGTCTTCGGCTGTGACC/- 0 In_Frame_Del GTCCTGGAGTCTTCGGCTGTGACC 48 SON DEL 21 - GTCCTGGAGTCTTCGGCTGTGACC 33847505 33847482 Broad SNRK 54861 broad.mit.edu GRCh37 3 43389892 43389895 + frameshift_variant Frame_Shift_Del DEL CCAC CCAC - novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000296088.7:c.2142_2145del p.Thr715LeufsTer6 p.T715Lfs*6 ENST00000296088 NM_017719.4 714 aCCACc/ac 0 Frame_Shift_Del CCAC 18 SNRK DEL 3 - CCAC 43364899 43364896 Broad FOXO3 2309 broad.mit.edu GRCh37 6 108985548 108985549 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-13-1487-01 TCGA-13-1487-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000406360.1:c.1512_1513insC p.Ser505LeufsTer10 p.S505Lfs*10 ENST00000406360 NM_001455.3 504 -/C 0 Frame_Shift_Ins - 52 FOXO3 INS 6 C - 109092242 109092241 Broad APC 324 hgsc.bcm.edu GRCh37 5 112175143 112175143 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000257430.4:c.3852A>G p.Glu1284= p.E1284= ENST00000257430 NM_000038.5 1284 gaA/gaG 0 Silent A 3 APC SNP 5 A G 112203042 112203042 Baylor ART3 419 hgsc.bcm.edu GRCh37 4 77003471 77003471 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355810.4:c.564A>T p.Ser188= p.S188= ENST00000355810 NM_001130016.2 188 tcA/tcT 0 Silent A 7 ART3 SNP 4 A T 77222495 77222495 Baylor ASTN2 23245 hgsc.bcm.edu GRCh37 9 119739038 119739038 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361209.2:c.1465G>A p.Ala489Thr p.A489T ENST00000361209 NM_014010.4 489 Gcc/Acc 0 Missense_Mutation C 25 ASTN2 SNP 9 C T 118778859 118778859 Baylor ATRX 546 hgsc.bcm.edu GRCh37 X 76919015 76919015 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373344.5:c.3976del p.Ser1326GlnfsTer20 p.S1326Qfs*20 ENST00000373344 NM_000489.3 1326 Tca/ca 0 Frame_Shift_Del A 9 ATRX DEL 23 A - 76805671 76805671 Baylor AURKC 6795 hgsc.bcm.edu GRCh37 19 57743552 57743552 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302804.7:c.256C>G p.His86Asp p.H86D ENST00000302804 NM_001015878.1 86 Cac/Gac 0 Missense_Mutation C 25 AURKC SNP 19 C G 62435364 62435364 Baylor NUGGC 389643 hgsc.bcm.edu GRCh37 8 27886902 27886902 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000413272.2:c.2035G>A p.Gly679Ser p.G679S ENST00000413272 NM_001010906.1 679 Ggc/Agc 0 Missense_Mutation C 22 C8orf80 SNP 8 C T 27942821 27942821 Baylor CD3E 916 hgsc.bcm.edu GRCh37 11 118184469 118184469 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361763.4:c.400G>C p.Val134Leu p.V134L ENST00000361763 NM_000733.3 134 Gtc/Ctc 0 Missense_Mutation G 48 CD3E SNP 11 G C 117689679 117689679 Baylor CDC42BPA 8476 hgsc.bcm.edu GRCh37 1 227182581 227182581 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000366769.3:c.4971G>C p.Leu1657Phe p.L1657F ENST00000366769 NM_003607.3 1657 ttG/ttC 0 Missense_Mutation C 17 CDC42BPA SNP 1 C G 225249204 225249204 Baylor CHMP6 79643 hgsc.bcm.edu GRCh37 17 78972931 78972931 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000325167.5:c.584C>T p.Ala195Val p.A195V ENST00000325167 NM_024591.4 195 gCg/gTg 0 Missense_Mutation C 27 CHMP6 SNP 17 C T 76587526 76587526 Baylor CLUL1 27098 hgsc.bcm.edu GRCh37 18 644982 644982 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000400606.2:c.1282C>A p.Pro428Thr p.P428T ENST00000400606 NM_014410.4 428 Cct/Act 0 Missense_Mutation C 26 CLUL1 SNP 18 C A 634982 634982 Baylor CNGA3 1261 hgsc.bcm.edu GRCh37 2 99013534 99013534 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393504.1:c.1901G>T p.Gly634Val p.G634V ENST00000393504 NM_001298.2 634 gGg/gTg 0 Missense_Mutation G 43 CNGA3 SNP 2 G T 98379966 98379966 Baylor SPECC1 92521 hgsc.bcm.edu GRCh37 17 20150560 20150560 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261503.5:c.2526del p.His842GlnfsTer8 p.H842Qfs*8 ENST00000261503 NM_001033553.2 842 caT/ca 0 Frame_Shift_Del T 49 CYTSB DEL 17 T - 20091152 20091152 Baylor DCTN1 1639 hgsc.bcm.edu GRCh37 2 74594894 74594894 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361874.3:c.2113C>G p.Leu705Val p.L705V ENST00000361874 NM_004082.4 705 Ctg/Gtg 0 Missense_Mutation G 36 DCTN1 SNP 2 G C 74448402 74448402 Baylor DNAH2 146754 hgsc.bcm.edu GRCh37 17 7636416 7636416 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000572933.1:c.411G>C p.Gln137His p.Q137H ENST00000572933 137 caG/caC 0 Missense_Mutation G 34 DNAH2 SNP 17 G C 7577141 7577141 Baylor DTNBP1 84062 hgsc.bcm.edu GRCh37 6 15652350 15652350 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000344537.5:c.78G>T p.Lys26Asn p.K26N ENST00000344537 NM_001271667.1 26 aaG/aaT 0 Missense_Mutation C 20 DTNBP1 SNP 6 C A 15760329 15760329 Baylor DYNC1LI1 51143 hgsc.bcm.edu GRCh37 3 32570047 32570047 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000273130.4:c.1353G>C p.Leu451Phe p.L451F ENST00000273130 NM_016141.3 451 ttG/ttC 0 Missense_Mutation C 17 DYNC1LI1 SNP 3 C G 32545051 32545051 Baylor DYX1C1 161582 hgsc.bcm.edu GRCh37 15 55724793 55724793 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000321149.3:c.1055A>T p.Glu352Val p.E352V ENST00000321149 NM_130810.3 352 gAa/gTa 0 Missense_Mutation T 62 DYX1C1 SNP 15 T A 53512085 53512085 Baylor FAM53B 9679 hgsc.bcm.edu GRCh37 10 126370760 126370760 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000337318.3:c.322C>G p.Pro108Ala p.P108A ENST00000337318 NM_014661.3 108 Ccc/Gcc 0 Missense_Mutation G 44 FAM53B SNP 10 G C 126360750 126360750 Baylor FEM1B 10116 hgsc.bcm.edu GRCh37 15 68582254 68582254 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000306917.4:c.558T>C p.Cys186= p.C186= ENST00000306917 NM_015322.4 186 tgT/tgC 0 Silent T 59 FEM1B SNP 15 T C 66369308 66369308 Baylor GEMIN4 50628 hgsc.bcm.edu GRCh37 17 650077 650077 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000319004.5:c.1206C>T p.Ile402= p.I402= ENST00000319004 NM_015721.2 402 atC/atT 0 Silent G 45 GEMIN4 SNP 17 G A 596827 596827 Baylor GPNMB 10457 hgsc.bcm.edu GRCh37 7 23296646 23296646 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381990.2:c.503G>C p.Trp168Ser p.W168S ENST00000381990 NM_002510.2 168 tGg/tCg 0 Missense_Mutation G 47 GPNMB SNP 7 G C 23263171 23263171 Baylor GTF3C2 2976 hgsc.bcm.edu GRCh37 2 27556599 27556599 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359541.2:c.1655C>G p.Ser552Cys p.S552C ENST00000359541 552 tCt/tGt 0 Missense_Mutation G 33 GTF3C2 SNP 2 G C 27410103 27410103 Baylor GUCY2C 2984 hgsc.bcm.edu GRCh37 12 14794029 14794029 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261170.3:c.2055T>C p.Cys685= p.C685= ENST00000261170 NM_004963.3 685 tgT/tgC 0 Silent A 10 GUCY2C SNP 12 A G 14685296 14685296 Baylor GUCY2F 2986 hgsc.bcm.edu GRCh37 X 108652311 108652311 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000218006.2:c.1878T>C p.Cys626= p.C626= ENST00000218006 NM_001522.2 626 tgT/tgC 0 Silent A 2 GUCY2F SNP 23 A G 108538967 108538967 Baylor HIPK4 147746 hgsc.bcm.edu GRCh37 19 40886975 40886975 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000291823.2:c.923G>T p.Arg308Leu p.R308L ENST00000291823 NM_144685.3 308 cGg/cTg 0 Missense_Mutation C 23 HIPK4 SNP 19 C A 45578815 45578815 Baylor INPP5D 3635 hgsc.bcm.edu GRCh37 2 233925286 233925286 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Biotage_PCR_WGA . . SOLID ENST00000359570.5:c.98G>C p.Ser33Thr p.S33T ENST00000359570 33 aGc/aCc 0 Missense_Mutation G 34 INPP5D SNP 2 G C 233633530 233633530 Baylor IQSEC2 23096 hgsc.bcm.edu GRCh37 X 53270968 53270968 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000396435.3:c.3013G>T p.Val1005Leu p.V1005L ENST00000396435 NM_001111125.2 1005 Gtg/Ttg 0 Missense_Mutation C 17 IQSEC2 SNP 23 C A 53287693 53287693 Baylor IVNS1ABP 10625 hgsc.bcm.edu GRCh37 1 185277998 185277998 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367498.3:c.291A>T p.Ala97= p.A97= ENST00000367498 NM_006469.4 97 gcA/gcT 0 Silent T 55 IVNS1ABP SNP 1 T A 183544621 183544621 Baylor KCND1 3750 hgsc.bcm.edu GRCh37 X 48819869 48819869 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000218176.3:c.1917C>G p.Pro639= p.P639= ENST00000218176 NM_004979.4 639 ccC/ccG 0 Silent G 39 KCND1 SNP 23 G C 48704813 48704813 Baylor KCNJ12 3768 hgsc.bcm.edu GRCh37 17 21319682 21319682 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000583088.1:c.1028C>T p.Ser343Leu p.S343L ENST00000583088 NM_021012.4 343 tCg/tTg 0 Missense_Mutation C 31 KCNJ12 SNP 17 C T 21260275 21260275 Baylor KCNJ15 3772 hgsc.bcm.edu GRCh37 21 39672247 39672247 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328656.4:c.1064A>T p.Tyr355Phe p.Y355F ENST00000328656 NM_002243.4 355 tAc/tTc 0 Missense_Mutation A 14 KCNJ15 SNP 21 A T 38594117 38594117 Baylor KIAA1199 57214 hgsc.bcm.edu GRCh37 15 81234204 81234204 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000394685.3:c.3422A>G p.Lys1141Arg p.K1141R ENST00000394685 1141 aAg/aGg 0 Missense_Mutation A 3 KIAA1199 SNP 15 A G 79021259 79021259 Baylor KIF1B 23095 hgsc.bcm.edu GRCh37 1 10386189 10386189 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263934.6:c.2558G>T p.Cys853Phe p.C853F ENST00000263934 NM_015074.3 853 tGt/tTt 0 Missense_Mutation G 48 KIF1B SNP 1 G T 10308776 10308776 Baylor KIF21B 23046 hgsc.bcm.edu GRCh37 1 200944785 200944785 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000422435.2:c.4456G>A p.Gly1486Ser p.G1486S ENST00000422435 NM_001252100.1 1486 Ggc/Agc 0 Missense_Mutation C 22 KIF21B SNP 1 C T 199211408 199211408 Baylor KIF6 221458 hgsc.bcm.edu GRCh37 6 39563851 39563851 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000287152.7:c.825G>T p.Leu275Phe p.L275F ENST00000287152 NM_145027.4 275 ttG/ttT 0 Missense_Mutation C 17 KIF6 SNP 6 C A 39671829 39671829 Baylor KIR2DL4 3805 hgsc.bcm.edu GRCh37 19 55324675 55324675 + intron_variant Intron DEL A A - novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000345540.5:c.707-462delA *236* ENST00000345540 NM_001080770.1 0 Frame_Shift_Del A 5 KIR2DL4 DEL 19 A - 60016487 60016487 Baylor KNTC1 9735 hgsc.bcm.edu GRCh37 12 123047187 123047187 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000333479.7:c.1545G>A p.Val515= p.V515= ENST00000333479 NM_014708.4 515 gtG/gtA 0 Silent G 46 KNTC1 SNP 12 G A 121613140 121613140 Baylor L1CAM 3897 hgsc.bcm.edu GRCh37 X 153130774 153130774 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370060.1:c.2729C>A p.Thr910Asn p.T910N ENST00000370060 NM_001278116.1 910 aCc/aAc 0 Missense_Mutation G 44 L1CAM SNP 23 G T 152783968 152783968 Baylor LHFPL4 375323 hgsc.bcm.edu GRCh37 3 9543917 9543917 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000287585.6:c.722T>A p.Val241Glu p.V241E ENST00000287585 NM_198560.2 241 gTg/gAg 0 Missense_Mutation A 6 LHFPL4 SNP 3 A T 9518917 9518917 Baylor MADD 8567 hgsc.bcm.edu GRCh37 11 47345815 47345815 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311027.5:c.4543-1G>T p.X1515_splice ENST00000311027 NM_003682.3 0 Splice_Site_SNP G 36 MADD SNP 11 G T 47302391 47302391 Baylor MEST 4232 hgsc.bcm.edu GRCh37 7 130138109 130138109 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000223215.4:c.469C>T p.Leu157Phe p.L157F ENST00000223215 NM_001253900.1 157 Ctc/Ttc 0 Missense_Mutation C 32 MEST SNP 7 C T 129925345 129925345 Baylor MET 4233 hgsc.bcm.edu GRCh37 7 116436143 116436143 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000397752.3:c.4138G>A p.Asp1380Asn p.D1380N ENST00000397752 NM_000245.2 1380 Gac/Aac 0 Missense_Mutation G 41 MET SNP 7 G A 116223379 116223379 Baylor LINC00174 285908 hgsc.bcm.edu GRCh37 7 65842545 65842546 + non_coding_transcript_exon_variant RNA INS - - GC novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000421767.1:n.3186_3187dup *1062* ENST00000421767 0 Frame_Shift_Ins - 59 NCRNA00174 INS 7 - GC 65479981 65479980 Baylor NEDD4L 23327 hgsc.bcm.edu GRCh37 18 55912724 55912724 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000400345.3:c.188C>A p.Thr63Lys p.T63K ENST00000400345 NM_001144967.2 63 aCa/aAa 0 Missense_Mutation C 17 NEDD4L SNP 18 C A 54063704 54063704 Baylor NOTCH1 4851 hgsc.bcm.edu GRCh37 9 139390942 139390942 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000277541.6:c.7249C>G p.Pro2417Ala p.P2417A ENST00000277541 NM_017617.3 2417 Ccg/Gcg 0 Missense_Mutation G 42 NOTCH1 SNP 9 G C 138510763 138510763 Baylor ONECUT1 3175 hgsc.bcm.edu GRCh37 15 53049880 53049880 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000305901.5:c.1270T>A p.Leu424Met p.L424M ENST00000305901 NM_004498.2 424 Ttg/Atg 0 Missense_Mutation A 2 ONECUT1 SNP 15 A T 50837172 50837172 Baylor PARP10 84875 hgsc.bcm.edu GRCh37 8 145057868 145057868 + missense_variant Missense_Mutation SNP A A G rs11544989 Unknown TCGA-13-0761-01 TCGA-13-0761-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000313028.7:c.1889T>C p.Val630Ala p.V630A ENST00000313028 NM_032789.3 630 gTg/gCg 0 Missense_Mutation A 6 PARP10 SNP 8 A G 145129856 145129856 Baylor PCDHGB4 8641 hgsc.bcm.edu GRCh37 5 140768861 140768861 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000519479.1:c.1410A>G p.Ser470= p.S470= ENST00000519479 NM_003736.2 470 tcA/tcG 0 Silent A 6 PCDHGB4 SNP 5 A G 140749045 140749045 Baylor PEX16 9409 hgsc.bcm.edu GRCh37 11 45937074 45937074 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000241041.3:c.405C>A p.Leu135= p.L135= ENST00000241041 NM_057174.2 135 ctC/ctA 0 Silent G 41 PEX16 SNP 11 G T 45893650 45893650 Baylor PHACTR4 65979 hgsc.bcm.edu GRCh37 1 28785730 28785730 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373836.3:c.190delA p.Ser64ValfsTer12 p.S64Vfs*12 ENST00000373836 NM_023923.3 61 Aaa/aa 0 Frame_Shift_Del A 9 PHACTR4 DEL 1 A - 28658317 28658317 Baylor PHLPP1 23239 hgsc.bcm.edu GRCh37 18 60625876 60625876 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000262719.5:c.3339C>A p.Ser1113Arg p.S1113R ENST00000262719 1113 agC/agA 0 Missense_Mutation C 28 PHLPP1 SNP 18 C A 58776856 58776856 Baylor PNLIPRP2 5408 hgsc.bcm.edu GRCh37 10 118383463 118383463 + splice_region_variant,synonymous_variant Splice_Region SNP A A G novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000537242.1:c.57A>G p.Lys19= p.K19= ENST00000537242 NM_005396.4 19 aaA/aaG 0 Missense_Mutation A 11 PNLIPRP2 SNP 10 A G 118373453 118373453 Baylor PTPRT 11122 hgsc.bcm.edu GRCh37 20 40727161 40727161 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000373198.4:c.3803C>A p.Thr1268Asn p.T1268N ENST00000373198 NM_133170.3 1268 aCc/aAc 0 Missense_Mutation G 44 PTPRT SNP 20 G T 40160575 40160575 Baylor RAB3D 9545 hgsc.bcm.edu GRCh37 19 11436141 11436141 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Biotage_PCR_WGA . . SOLID ENST00000222120.3:c.593G>A p.Gly198Asp p.G198D ENST00000222120 NM_004283.3 198 gGc/gAc 0 Missense_Mutation C 26 RAB3D SNP 19 C T 11297141 11297141 Baylor RYR1 6261 hgsc.bcm.edu GRCh37 19 38959774 38959774 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359596.3:c.3550G>T p.Gly1184Trp p.G1184W ENST00000359596 1184 Ggg/Tgg 0 Missense_Mutation G 47 RYR1 SNP 19 G T 43651614 43651614 Baylor PPP6R3 55291 hgsc.bcm.edu GRCh37 11 68377471 68377471 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393801.3:c.2568C>T p.Pro856= p.P856= ENST00000393801 NM_001164160.1 856 ccC/ccT 0 Silent C 21 PPP6R3 SNP 11 C T 68134047 68134047 Baylor SCIN 85477 hgsc.bcm.edu GRCh37 7 12691521 12691521 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000297029.5:c.2015A>C p.Lys672Thr p.K672T ENST00000297029 NM_001112706.2 672 aAg/aCg 0 Missense_Mutation A 3 SCIN SNP 7 A C 12658046 12658046 Baylor SERPINB1 1992 hgsc.bcm.edu GRCh37 6 2836140 2836140 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380739.5:c.685G>A p.Val229Ile p.V229I ENST00000380739 NM_030666.3 229 Gtc/Atc 0 Missense_Mutation C 18 SERPINB1 SNP 6 C T 2781139 2781139 Baylor SIAH2 6478 hgsc.bcm.edu GRCh37 3 150460047 150460047 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000312960.3:c.856G>A p.Gly286Ser p.G286S ENST00000312960 NM_005067.5 286 Ggt/Agt 0 Missense_Mutation C 23 SIAH2 SNP 3 C T 151942737 151942737 Baylor SMARCA1 6594 hgsc.bcm.edu GRCh37 X 128649709 128649709 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371122.4:c.585C>A p.Ile195= p.I195= ENST00000371122 NM_003069.3 195 atC/atA 0 Silent G 33 SMARCA1 SNP 23 G T 128477390 128477390 Baylor SNX16 64089 hgsc.bcm.edu GRCh37 8 82736049 82736049 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000396330.2:c.589G>C p.Ala197Pro p.A197P ENST00000396330 NM_022133.3 197 Gct/Cct 0 Missense_Mutation C 28 SNX16 SNP 8 C G 82898604 82898604 Baylor SPEN 23013 hgsc.bcm.edu GRCh37 1 16254640 16254640 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000375759.3:c.1905T>G p.Ser635Arg p.S635R ENST00000375759 NM_015001.2 635 agT/agG 0 Missense_Mutation T 59 SPEN SNP 1 T G 16127227 16127227 Baylor SRC 6714 hgsc.bcm.edu GRCh37 20 36030940 36030940 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358208.4:c.1219G>C p.Asp407His p.D407H ENST00000358208 407 Gac/Cac 0 Missense_Mutation G 41 SRC SNP 20 G C 35464354 35464354 Baylor TFDP1 7027 hgsc.bcm.edu GRCh37 13 114288852 114288852 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375370.5:c.622G>T p.Glu208Ter p.E208* ENST00000375370 NM_007111.4 208 Gaa/Taa 0 Nonsense_Mutation G 41 TFDP1 SNP 13 G T 113336853 113336853 Baylor TNK2 10188 hgsc.bcm.edu GRCh37 3 195611842 195611842 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381916.2:c.486G>A p.Arg162= p.R162= ENST00000381916 NM_001010938.1 162 cgG/cgA 0 Silent C 30 TNK2 SNP 3 C T 197096239 197096239 Baylor TOP2A 7153 hgsc.bcm.edu GRCh37 17 38569162 38569164 + inframe_deletion In_Frame_Del DEL TCT TCT - novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 TCT TCT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000423485.1:c.636_638del p.Glu212del p.E212del ENST00000423485 NM_001067.3 212 gaAGAt/gat 0 In_Frame_Del TCT 50 TOP2A DEL 17 TCT - 35822690 35822688 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C T rs28934576 Unknown TCGA-13-0761-01 TCGA-13-0761-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000269305.4:c.818G>A p.Arg273His p.R273H ENST00000269305 NM_001126112.2 273 cGt/cAt 0 Missense_Mutation C 19 TP53 SNP 17 C T 7517845 7517845 Baylor ZNF169 169841 hgsc.bcm.edu GRCh37 9 97062949 97062949 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395395.2:c.1109G>A p.Gly370Glu p.G370E ENST00000395395 NM_194320.2 370 gGg/gAg 0 Missense_Mutation G 43 ZNF169 SNP 9 G A 96102770 96102770 Baylor ZNF449 203523 hgsc.bcm.edu GRCh37 X 134494391 134494391 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0761-01 TCGA-13-0761-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000339249.4:c.947A>T p.Lys316Met p.K316M ENST00000339249 NM_152695.5 316 aAg/aTg 0 Missense_Mutation A 3 ZNF449 SNP 23 A T 134322057 134322057 Baylor EPHB2 2048 broad.mit.edu GRCh37 1 23208913 23208913 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000374632.3:c.1365G>A p.Ser455= p.S455= ENST00000374632 455 tcG/tcA 0 Silent G 40 EPHB2 SNP 1 G A 23081500 23081500 Broad CSMD2 114784 broad.mit.edu GRCh37 1 34076684 34076684 + synonymous_variant,NMD_transcript_variant Silent SNP G G A novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000241312.4:c.6180C>T p.Ser2060= p.S2060= ENST00000241312 2060 agC/agT 0 Silent G 38 CSMD2 SNP 1 G A 33849271 33849271 Broad PLEKHA6 22874 broad.mit.edu GRCh37 1 204214794 204214794 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000272203.3:c.1981G>A p.Gly661Arg p.G661R ENST00000272203 NM_014935.4 661 Ggg/Agg 0 Missense_Mutation C 22 PLEKHA6 SNP 1 C T 202481417 202481417 Broad ACTN2 88 broad.mit.edu GRCh37 1 236920879 236920879 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000366578.4:c.2248A>G p.Ile750Val p.I750V ENST00000366578 NM_001278344.1 750 Atc/Gtc 0 Missense_Mutation A 8 ACTN2 SNP 1 A G 234987502 234987502 Broad NEBL 10529 broad.mit.edu GRCh37 10 21101810 21101810 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000377122.4:c.2406C>T p.Asp802= p.D802= ENST00000377122 NM_006393.2 802 gaC/gaT 0 Silent G 40 NEBL SNP 10 G A 21141816 21141816 Broad ZSWIM8 23053 broad.mit.edu GRCh37 10 75560185 75560185 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000398706.2:c.4981G>A p.Val1661Ile p.V1661I ENST00000398706 NM_015037.3 1661 Gtc/Atc 0 Missense_Mutation G 36 KIAA0913 SNP 10 G A 75230191 75230191 Broad ZDHHC16 84287 broad.mit.edu GRCh37 10 99212186 99212186 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000393760.1:c.453C>T p.Ile151= p.I151= ENST00000393760 NM_198046.1 151 atC/atT 0 Silent C 31 ZDHHC16 SNP 10 C T 99202176 99202176 Broad OR52E2 119678 broad.mit.edu GRCh37 11 5079964 5079964 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000321522.2:c.894G>A p.Lys298= p.K298= ENST00000321522 NM_001005164.2 298 aaG/aaA 0 Silent C 28 OR52E2 SNP 11 C T 5036540 5036540 Broad OR5L1 219437 broad.mit.edu GRCh37 11 55579056 55579056 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000333973.2:c.114G>A p.Thr38= p.T38= ENST00000333973 NM_001004738.1 38 acG/acA 0 Silent G 40 OR5L1 SNP 11 G A 55335632 55335632 Broad FTH1 2495 broad.mit.edu GRCh37 11 61732321 61732321 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000273550.7:c.430A>G p.Lys144Glu p.K144E ENST00000273550 NM_002032.2 144 Aaa/Gaa 0 Missense_Mutation T 62 FTH1 SNP 11 T C 61488897 61488897 Broad NCAPD3 23310 broad.mit.edu GRCh37 11 134062769 134062769 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000534548.2:c.1860G>A p.Trp620Ter p.W620* ENST00000534548 NM_015261.2 620 tgG/tgA 0 Nonsense_Mutation C 18 NCAPD3 SNP 11 C T 133567979 133567979 Broad SLC4A8 9498 broad.mit.edu GRCh37 12 51857482 51857482 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000453097.2:c.1333C>G p.Leu445Val p.L445V ENST00000453097 NM_001039960.2 445 Ctt/Gtt 0 Missense_Mutation C 20 SLC4A8 SNP 12 C G 50143749 50143749 Broad LRP1 4035 broad.mit.edu GRCh37 12 57598286 57598286 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000243077.3:c.11045A>G p.Asn3682Ser p.N3682S ENST00000243077 NM_002332.2 3682 aAc/aGc 0 Missense_Mutation A 2 LRP1 SNP 12 A G 55884553 55884553 Broad NBEA 26960 broad.mit.edu GRCh37 13 35685048 35685048 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000400445.3:c.1935C>T p.His645= p.H645= ENST00000400445 NM_015678.4 645 caC/caT 0 Silent C 17 NBEA SNP 13 C T 34583048 34583048 Broad USP8 9101 broad.mit.edu GRCh37 15 50757280 50757280 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000433963.1:c.578C>T p.Thr193Met p.T193M ENST00000433963 NM_001128611.1 193 aCg/aTg 0 Missense_Mutation C 19 USP8 SNP 15 C T 48544572 48544572 Broad MYH11 4629 broad.mit.edu GRCh37 16 15844038 15844038 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000396324.3:c.2036C>T p.Thr679Met p.T679M ENST00000396324 NM_001040114.1 679 aCg/aTg 0 Missense_Mutation G 40 MYH11 SNP 16 G A 15751539 15751539 Broad ANKS4B 257629 broad.mit.edu GRCh37 16 21261206 21261206 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000311620.5:c.319A>T p.Ser107Cys p.S107C ENST00000311620 NM_145865.2 107 Agc/Tgc 0 Missense_Mutation A 7 ANKS4B SNP 16 A T 21168707 21168707 Broad ZNF267 10308 broad.mit.edu GRCh37 16 31927489 31927489 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000300870.10:c.1919C>T p.Ala640Val p.A640V ENST00000300870 NM_003414.5 640 gCc/gTc 0 Missense_Mutation C 26 ZNF267 SNP 16 C T 31834990 31834990 Broad TP53 7157 broad.mit.edu GRCh37 17 7578370 7578370 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.559+1G>T p.X187_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 18 TP53 SNP 17 C A 7519095 7519095 Broad AP2B1 163 broad.mit.edu GRCh37 17 33977562 33977562 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000312678.8:c.1550C>G p.Pro517Arg p.P517R ENST00000312678 NM_001030006.1 517 cCt/cGt 0 Missense_Mutation C 24 AP2B1 SNP 17 C G 31001675 31001675 Broad SDK2 54549 broad.mit.edu GRCh37 17 71387631 71387631 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000392650.3:c.3945G>A p.Thr1315= p.T1315= ENST00000392650 NM_001144952.1 1315 acG/acA 0 Silent C 19 SDK2 SNP 17 C T 68899226 68899226 Broad INSR 3643 broad.mit.edu GRCh37 19 7152753 7152753 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000302850.5:c.2215G>C p.Val739Leu p.V739L ENST00000302850 NM_000208.2 739 Gtg/Ctg 0 Missense_Mutation C 19 INSR SNP 19 C G 7103753 7103753 Broad CD97 976 broad.mit.edu GRCh37 19 14513441 14513441 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000242786.5:c.1216A>G p.Asn406Asp p.N406D ENST00000242786 NM_078481.3 406 Aac/Gac 0 Missense_Mutation A 9 CD97 SNP 19 A G 14374441 14374441 Broad NLRP2 55655 broad.mit.edu GRCh37 19 55512226 55512226 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000543010.1:c.3149C>A p.Pro1050His p.P1050H ENST00000543010 NM_001174081.1 1050 cCc/cAc 0 Missense_Mutation C 22 NLRP2 SNP 19 C A 60204038 60204038 Broad COLEC11 78989 broad.mit.edu GRCh37 2 3691501 3691501 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000418971.2:c.651C>T p.Ile217= p.I217= ENST00000418971 NM_001255985.1 217 atC/atT 0 Silent C 31 COLEC11 SNP 2 C T 3669376 3669376 Broad VRK2 7444 broad.mit.edu GRCh37 2 58275998 58275998 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000435505.2:c.32T>A p.Leu11His p.L11H ENST00000435505 NM_001288837.1 11 cTt/cAt 0 Missense_Mutation T 56 VRK2 SNP 2 T A 58129502 58129502 Broad PSD4 23550 broad.mit.edu GRCh37 2 113955156 113955156 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000245796.6:c.2402G>A p.Arg801His p.R801H ENST00000245796 NM_012455.2 801 cGt/cAt 0 Missense_Mutation G 40 PSD4 SNP 2 G A 113671627 113671627 Broad BBS5 129880 broad.mit.edu GRCh37 2 170336097 170336097 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000295240.3:c.34G>T p.Asp12Tyr p.D12Y ENST00000295240 NM_152384.2 12 Gat/Tat 0 Missense_Mutation G 41 BBS5 SNP 2 G T 170044343 170044343 Broad LPIN3 64900 broad.mit.edu GRCh37 20 39977404 39977404 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000373257.3:c.434G>C p.Arg145Pro p.R145P ENST00000373257 NM_022896.1 145 cGt/cCt 0 Missense_Mutation G 40 LPIN3 SNP 20 G C 39410818 39410818 Broad TMPRSS15 5651 broad.mit.edu GRCh37 21 19685263 19685263 + missense_variant,splice_region_variant Missense_Mutation SNP C C A rs34942696 Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000284885.3:c.2164G>T p.Gly722Trp p.G722W ENST00000284885 NM_002772.2 722 Ggg/Tgg 0 Missense_Mutation C 24 TMPRSS15 SNP 21 C A 18607134 18607134 Broad SYNJ1 8867 broad.mit.edu GRCh37 21 34072358 34072358 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000433931.2:c.386T>C p.Ile129Thr p.I129T ENST00000433931 NM_003895.3 129 aTt/aCt 0 Missense_Mutation A 4 SYNJ1 SNP 21 A G 32994229 32994229 Broad BACE2 25825 broad.mit.edu GRCh37 21 42609500 42609500 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000330333.6:c.462G>T p.Trp154Cys p.W154C ENST00000330333 NM_012105.4 154 tgG/tgT 0 Missense_Mutation G 41 BACE2 SNP 21 G T 41531370 41531370 Broad MCTP1 79772 broad.mit.edu GRCh37 5 94046533 94046533 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000515393.1:c.2820C>G p.Val940= p.V940= ENST00000515393 NM_024717.4 940 gtC/gtG 0 Silent G 41 MCTP1 SNP 5 G C 94072289 94072289 Broad PRR3 80742 broad.mit.edu GRCh37 6 30530243 30530243 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000376560.3:c.538C>G p.His180Asp p.H180D ENST00000376560 NM_025263.3 180 Cat/Gat 0 Missense_Mutation C 21 PRR3 SNP 6 C G 30638222 30638222 Broad DEFB110 245913 broad.mit.edu GRCh37 6 49989593 49989593 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000371148.2:c.55+1G>A p.X19_splice ENST00000371148 NM_001037497.1 0 Splice_Site_SNP C 18 DEFB110 SNP 6 C T 50097552 50097552 Broad GSTA5 221357 broad.mit.edu GRCh37 6 52696672 52696672 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000370989.2:c.643G>A p.Glu215Lys p.E215K ENST00000370989 215 Gaa/Aaa 0 Missense_Mutation C 32 GSTA5 SNP 6 C T 52804631 52804631 Broad KHDRBS2 202559 broad.mit.edu GRCh37 6 62390875 62390875 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000281156.4:c.1043G>T p.Arg348Ile p.R348I ENST00000281156 NM_152688.2 348 aGa/aTa 0 Missense_Mutation C 32 KHDRBS2 SNP 6 C A 62448834 62448834 Broad CACNA2D1 781 broad.mit.edu GRCh37 7 81714151 81714151 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000356860.3:c.592G>A p.Glu198Lys p.E198K ENST00000356860 NM_000722.2 198 Gag/Aag 0 Missense_Mutation C 31 CACNA2D1 SNP 7 C T 81552087 81552087 Broad SLC26A3 1811 broad.mit.edu GRCh37 7 107427810 107427810 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000340010.5:c.880T>G p.Phe294Val p.F294V ENST00000340010 NM_000111.2 294 Ttc/Gtc 0 Missense_Mutation A 4 SLC26A3 SNP 7 A C 107215046 107215046 Broad REPIN1 29803 broad.mit.edu GRCh37 7 150068781 150068781 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000489432.2:c.622G>A p.Glu208Lys p.E208K ENST00000489432 NM_001099695.1 208 Gag/Aag 0 Missense_Mutation G 37 REPIN1 SNP 7 G A 149699714 149699714 Broad MYOM2 9172 broad.mit.edu GRCh37 8 2005774 2005774 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000262113.4:c.436T>G p.Phe146Val p.F146V ENST00000262113 NM_003970.2 146 Ttt/Gtt 0 Missense_Mutation T 52 MYOM2 SNP 8 T G 1993181 1993181 Broad CNBD1 168975 broad.mit.edu GRCh37 8 87899829 87899829 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000518476.1:c.148G>C p.Gly50Arg p.G50R ENST00000518476 NM_173538.2 50 Gga/Cga 0 Missense_Mutation G 35 CNBD1 SNP 8 G C 87968945 87968945 Broad TLE1 7088 broad.mit.edu GRCh37 9 84200491 84200491 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000376499.3:c.2057T>A p.Val686Glu p.V686E ENST00000376499 NM_005077.3 686 gTg/gAg 0 Missense_Mutation A 6 TLE1 SNP 9 A T 83390311 83390311 Broad ACE2 59272 broad.mit.edu GRCh37 X 15593882 15593882 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 Unknown Unknown Unknown x x x ENST00000427411.1:c.1349T>C p.Leu450Pro p.L450P ENST00000427411 NM_021804.2 450 cTg/cCg 0 Missense_Mutation A 7 ACE2 SNP 23 A G 15503803 15503803 Broad HEPH 9843 broad.mit.edu GRCh37 X 65390482 65390482 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000519389.1:c.232G>T p.Ala78Ser p.A78S ENST00000519389 78 Gcc/Tcc 0 Missense_Mutation G 34 HEPH SNP 23 G T 65307207 65307207 Broad KIAA1210 57481 broad.mit.edu GRCh37 X 118250616 118250616 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1564-01 TCGA-24-1564-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000402510.2:c.493T>G p.Cys165Gly p.C165G ENST00000402510 NM_020721.1 165 Tgc/Ggc 0 Missense_Mutation A 8 KIAA1210 SNP 23 A C 118134644 118134644 Broad BPI 671 hgsc.bcm.edu GRCh37 20 36936066 36936066 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1571-01 TCGA-36-1571-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262865.4:c.240G>A p.Gly80= p.G80= ENST00000262865 NM_001725.2 80 ggG/ggA 0 Silent G 42 BPI SNP 20 G A 36369480 36369480 Baylor SLX4 84464 hgsc.bcm.edu GRCh37 16 3652171 3652171 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-36-1571-01 TCGA-36-1571-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000294008.3:c.898C>T p.Gln300Ter p.Q300* ENST00000294008 NM_032444.2 300 Caa/Taa 0 Nonsense_Mutation G 45 BTBD12 SNP 16 G A 3592172 3592172 Baylor CLCN7 1186 hgsc.bcm.edu GRCh37 16 1515271 1515271 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1571-01 TCGA-36-1571-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000382745.4:c.210C>T p.Asp70= p.D70= ENST00000382745 NM_001287.5 70 gaC/gaT 0 Silent G 44 CLCN7 SNP 16 G A 1455272 1455272 Baylor CYTH2 9266 hgsc.bcm.edu GRCh37 19 48977465 48977465 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1571-01 TCGA-36-1571-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000452733.2:c.574G>A p.Val192Ile p.V192I ENST00000452733 192 Gtc/Atc 0 Missense_Mutation G 40 CYTH2 SNP 19 G A 53669277 53669277 Baylor DNMT3B 1789 hgsc.bcm.edu GRCh37 20 31383297 31383297 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1571-01 TCGA-36-1571-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000328111.2:c.1209C>G p.Cys403Trp p.C403W ENST00000328111 NM_006892.3 403 tgC/tgG 0 Missense_Mutation C 28 DNMT3B SNP 20 C G 30846958 30846958 Baylor LRRK2 120892 hgsc.bcm.edu GRCh37 12 40699634 40699634 + synonymous_variant Silent SNP C C G novel Unknown TCGA-36-1571-01 TCGA-36-1571-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000298910.7:c.3825C>G p.Val1275= p.V1275= ENST00000298910 NM_198578.3 1275 gtC/gtG 0 Silent C 29 LRRK2 SNP 12 C G 38985901 38985901 Baylor MKRN3 7681 hgsc.bcm.edu GRCh37 15 23811187 23811187 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1571-01 TCGA-36-1571-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000314520.3:c.258G>A p.Pro86= p.P86= ENST00000314520 NM_005664.3 86 ccG/ccA 0 Silent G 40 MKRN3 SNP 15 G A 21362280 21362280 Baylor NXT2 55916 hgsc.bcm.edu GRCh37 X 108784760 108784760 + synonymous_variant Silent SNP T T C novel Unknown TCGA-36-1571-01 TCGA-36-1571-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000218004.1:c.324T>C p.Val108= p.V108= ENST00000218004 NM_018698.4 108 gtT/gtC 0 Silent T 64 NXT2 SNP 23 T C 108671416 108671416 Baylor PYGO1 26108 hgsc.bcm.edu GRCh37 15 55841125 55841125 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1571-01 TCGA-36-1571-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000302000.6:c.118C>T p.Arg40Cys p.R40C ENST00000302000 NM_015617.2 40 Cgc/Tgc 0 Missense_Mutation G 38 PYGO1 SNP 15 G A 53628417 53628417 Baylor SMARCB1 6598 hgsc.bcm.edu GRCh37 22 24175888 24175888 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-36-1571-01 TCGA-36-1571-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000263121.7:c.1116G>A p.Thr372= p.T372= ENST00000263121 NM_003073.3 372 acG/acA 0 Silent G 37 SMARCB1 SNP 22 G A 22505888 22505888 Baylor STAC3 246329 hgsc.bcm.edu GRCh37 12 57643044 57643044 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1571-01 TCGA-36-1571-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000332782.2:c.114G>T p.Lys38Asn p.K38N ENST00000332782 NM_145064.1 38 aaG/aaT 0 Missense_Mutation C 24 STAC3 SNP 12 C A 55929311 55929311 Baylor TMEM182 130827 hgsc.bcm.edu GRCh37 2 103414359 103414359 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1571-01 TCGA-36-1571-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000412401.2:c.369G>A p.Gly123= p.G123= ENST00000412401 NM_144632.3 123 ggG/ggA 0 Silent G 43 TMEM182 SNP 2 G A 102780791 102780791 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7574018 7574018 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1571-01 TCGA-36-1571-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.1009C>T p.Arg337Cys p.R337C ENST00000269305 NM_001126112.2 337 Cgc/Tgc 0 Missense_Mutation G 38 TP53 SNP 17 G A 7514743 7514743 Baylor TRAF5 7188 hgsc.bcm.edu GRCh37 1 211533308 211533308 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1571-01 TCGA-36-1571-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261464.5:c.433C>G p.Arg145Gly p.R145G ENST00000261464 NM_001033910.2 145 Cgg/Ggg 0 Missense_Mutation C 23 TRAF5 SNP 1 C G 209599931 209599931 Baylor UBQLN3 50613 hgsc.bcm.edu GRCh37 11 5528898 5528898 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1571-01 TCGA-36-1571-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000311659.4:c.1891C>G p.Arg631Gly p.R631G ENST00000311659 NM_017481.2 631 Cgt/Ggt 0 Missense_Mutation G 37 UBQLN3 SNP 11 G C 5485474 5485474 Baylor USP11 8237 hgsc.bcm.edu GRCh37 X 47098492 47098492 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1571-01 TCGA-36-1571-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000218348.3:c.329A>G p.Tyr110Cys p.Y110C ENST00000218348 NM_004651.3 110 tAt/tGt 0 Missense_Mutation A 16 USP11 SNP 23 A G 46983436 46983436 Baylor UBE2J2 118424 broad.mit.edu GRCh37 1 1192678 1192678 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000400930.4:c.233A>T p.His78Leu p.H78L ENST00000400930 NM_194315.1 78 cAt/cTt 0 Missense_Mutation T 51 UBE2J2 SNP 1 T A 1182541 1182541 Broad CROCC 9696 broad.mit.edu GRCh37 1 17281935 17281935 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000375541.5:c.3594A>G p.Ala1198= p.A1198= ENST00000375541 NM_014675.3 1198 gcA/gcG 0 Silent A 7 CROCC SNP 1 A G 17154522 17154522 Broad TM2D1 83941 broad.mit.edu GRCh37 1 62174999 62174999 + splice_donor_variant Splice_Site SNP A A C novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000371180.2:c.533+2T>G p.X178_splice ENST00000371180 NM_032027.2 0 Splice_Site_SNP A 14 TM2D1 SNP 1 A C 61947587 61947587 Broad VAV3 10451 broad.mit.edu GRCh37 1 108311108 108311108 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000370056.4:c.672A>G p.Arg224= p.R224= ENST00000370056 NM_006113.4 224 agA/agG 0 Silent T 50 VAV3 SNP 1 T C 108112631 108112631 Broad GNAI3 2773 broad.mit.edu GRCh37 1 110116390 110116390 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000369851.4:c.150G>A p.Val50= p.V50= ENST00000369851 NM_006496.3 50 gtG/gtA 0 Silent G 45 GNAI3 SNP 1 G A 109917913 109917913 Broad SNX27 81609 broad.mit.edu GRCh37 1 151641080 151641080 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000368843.3:c.1118A>G p.Asn373Ser p.N373S ENST00000368843 NM_030918.5 373 aAt/aGt 0 Missense_Mutation A 4 SNX27 SNP 1 A G 149907704 149907704 Broad RHBG 57127 broad.mit.edu GRCh37 1 156348062 156348062 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000368249.1:c.545C>A p.Ser182Tyr p.S182Y ENST00000368249 NM_020407.4 182 tCc/tAc 0 Missense_Mutation C 30 RHBG SNP 1 C A 154614686 154614686 Broad IRF6 3664 broad.mit.edu GRCh37 1 209968703 209968703 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000367021.3:c.440A>G p.Glu147Gly p.E147G ENST00000367021 NM_006147.3 147 gAa/gGa 0 Missense_Mutation T 62 IRF6 SNP 1 T C 208035326 208035326 Broad MUC2 4583 broad.mit.edu GRCh37 11 1082622 1082622 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000441003.2:c.1871A>G p.Asn624Ser p.N624S ENST00000441003 NM_002457.2 624 aAt/aGt 0 Missense_Mutation A 4 MUC2 SNP 11 A G 1072622 1072622 Broad ACRBP 84519 broad.mit.edu GRCh37 12 6756111 6756111 + synonymous_variant Silent SNP A A C novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000229243.2:c.111T>G p.Pro37= p.P37= ENST00000229243 NM_032489.2 37 ccT/ccG 0 Silent A 11 ACRBP SNP 12 A C 6626372 6626372 Broad A2ML1 144568 broad.mit.edu GRCh37 12 9020925 9020925 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000299698.7:c.4033C>T p.Arg1345Ter p.R1345* ENST00000299698 NM_144670.4 1345 Cga/Tga 0 Nonsense_Mutation C 31 A2ML1 SNP 12 C T 8912192 8912192 Broad LRRK2 120892 broad.mit.edu GRCh37 12 40668477 40668477 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000298910.7:c.1749A>C p.Glu583Asp p.E583D ENST00000298910 NM_198578.3 583 gaA/gaC 0 Missense_Mutation A 3 LRRK2 SNP 12 A C 38954744 38954744 Broad ADAMTS20 80070 broad.mit.edu GRCh37 12 43824219 43824219 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000389420.3:c.3317A>T p.Glu1106Val p.E1106V ENST00000389420 NM_025003.3 1106 gAg/gTg 0 Missense_Mutation T 54 ADAMTS20 SNP 12 T A 42110486 42110486 Broad TRPC4 7223 broad.mit.edu GRCh37 13 38211441 38211441 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000379681.3:c.2548T>A p.Phe850Ile p.F850I ENST00000379681 NM_001135955.1 850 Ttt/Att 0 Missense_Mutation A 3 TRPC4 SNP 13 A T 37109441 37109441 Broad TRPC4 7223 broad.mit.edu GRCh37 13 38225457 38225457 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000379681.3:c.2024C>T p.Thr675Ile p.T675I ENST00000379681 NM_001135955.1 675 aCa/aTa 0 Missense_Mutation G 48 TRPC4 SNP 13 G A 37123457 37123457 Broad CCDC88C 440193 broad.mit.edu GRCh37 14 91757415 91757416 + missense_variant Missense_Mutation DNP CA CA AC novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000389857.6:c.4125_4126delinsGT p.Asn1375_Ala1376delinsLysSer p.N1375_A1376delinsKS ENST00000389857 NM_001080414.3 1375 aaTGcc/aaGTcc 0 Missense_Mutation CA 25 CCDC88C DNP 14 CA AC 90827169 90827168 Broad NPAP1 23742 broad.mit.edu GRCh37 15 24921536 24921536 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000329468.2:c.522C>T p.Asp174= p.D174= ENST00000329468 NM_018958.2 174 gaC/gaT 0 Silent C 19 C15orf2 SNP 15 C T 22472629 22472629 Broad KIAA1199 57214 broad.mit.edu GRCh37 15 81173442 81173442 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000394685.3:c.582C>T p.Ile194= p.I194= ENST00000394685 194 atC/atT 0 Silent C 31 KIAA1199 SNP 15 C T 78960497 78960497 Broad BNC1 646 broad.mit.edu GRCh37 15 83932792 83932792 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000345382.2:c.1211G>A p.Arg404His p.R404H ENST00000345382 NM_001717.3 404 cGc/cAc 0 Missense_Mutation C 27 BNC1 SNP 15 C T 81723796 81723796 Broad NMB 4828 broad.mit.edu GRCh37 15 85198549 85198549 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000394588.3:c.417G>A p.Lys139= p.K139= ENST00000394588 NM_021077.3 139 aaG/aaA 0 Silent C 24 NMB SNP 15 C T 82999553 82999553 Broad TSC2 7249 broad.mit.edu GRCh37 16 2129153 2129153 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000219476.3:c.3087G>T p.Met1029Ile p.M1029I ENST00000219476 NM_000548.3 1029 atG/atT 0 Missense_Mutation G 45 TSC2 SNP 16 G T 2069154 2069154 Broad EEF2K 29904 broad.mit.edu GRCh37 16 22278092 22278092 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000263026.5:c.1659C>T p.Phe553= p.F553= ENST00000263026 NM_013302.3 553 ttC/ttT 0 Silent C 30 EEF2K SNP 16 C T 22185593 22185593 Broad EEF2K 29904 broad.mit.edu GRCh37 16 22278171 22278171 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000263026.5:c.1738C>T p.His580Tyr p.H580Y ENST00000263026 NM_013302.3 580 Cac/Tac 0 Missense_Mutation C 29 EEF2K SNP 16 C T 22185672 22185672 Broad SMPD3 55512 broad.mit.edu GRCh37 16 68405429 68405429 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000219334.5:c.656A>G p.His219Arg p.H219R ENST00000219334 NM_018667.3 219 cAc/cGc 0 Missense_Mutation T 59 SMPD3 SNP 16 T C 66962930 66962930 Broad FAM83G 644815 broad.mit.edu GRCh37 17 18881625 18881625 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000388995.6:c.1354A>T p.Thr452Ser p.T452S ENST00000388995 452 Acc/Tcc 0 Missense_Mutation T 59 FAM83G SNP 17 T A 18822350 18822350 Broad SCN4A 6329 broad.mit.edu GRCh37 17 62024486 62024486 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000435607.1:c.3360G>A p.Ser1120= p.S1120= ENST00000435607 NM_000334.4 1120 tcG/tcA 0 Silent C 23 SCN4A SNP 17 C T 59378218 59378218 Broad CNDP2 55748 broad.mit.edu GRCh37 18 72183571 72183571 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000324262.4:c.1012G>A p.Gly338Ser p.G338S ENST00000324262 NM_018235.2 338 Ggc/Agc 0 Missense_Mutation G 47 CNDP2 SNP 18 G A 70334551 70334551 Broad DOT1L 84444 broad.mit.edu GRCh37 19 2210819 2210821 + missense_variant Missense_Mutation TNP AGA AGA CCG novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000398665.3:c.1316_1318delinsCCG p.Gln439_Thr440delinsProAla p.Q439_T440delinsPA ENST00000398665 NM_032482.2 439 cAGAcc/cCCGcc 0 Missense_Mutation AGA 7 DOT1L TNP 19 AGA CCG 2161821 2161819 Broad RDH8 50700 broad.mit.edu GRCh37 19 10132084 10132084 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000591589.1:c.750C>T p.Ser250= p.S250= ENST00000591589 250 tcC/tcT 0 Silent C 23 RDH8 SNP 19 C T 9993084 9993084 Broad NCAN 1463 broad.mit.edu GRCh37 19 19339041 19339041 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000252575.6:c.2612C>T p.Thr871Met p.T871M ENST00000252575 NM_004386.2 871 aCg/aTg 0 Missense_Mutation C 19 NCAN SNP 19 C T 19200041 19200041 Broad ZNF536 9745 broad.mit.edu GRCh37 19 30936480 30936480 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000355537.3:c.2011C>T p.Arg671Trp p.R671W ENST00000355537 NM_014717.1 671 Cgg/Tgg 0 Missense_Mutation C 27 ZNF536 SNP 19 C T 35628320 35628320 Broad SP100 6672 broad.mit.edu GRCh37 2 231331929 231331929 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000340126.4:c.1290G>A p.Lys430= p.K430= ENST00000340126 NM_001080391.1 430 aaG/aaA 0 Silent G 35 SP100 SNP 2 G A 231040173 231040173 Broad GIGYF2 26058 broad.mit.edu GRCh37 2 233659580 233659580 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000409451.3:c.1468G>T p.Val490Phe p.V490F ENST00000409451 490 Gtt/Ttt 0 Missense_Mutation G 36 GIGYF2 SNP 2 G T 233367824 233367824 Broad TTI1 9675 broad.mit.edu GRCh37 20 36641782 36641782 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000373448.2:c.437C>G p.Ser146Cys p.S146C ENST00000373448 NM_014657.1 146 tCc/tGc 0 Missense_Mutation G 41 TTI1 SNP 20 G C 36075196 36075196 Broad MRPS25 64432 broad.mit.edu GRCh37 3 15100889 15100889 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000253686.2:c.228G>A p.Leu76= p.L76= ENST00000253686 NM_022497.3 76 ctG/ctA 0 Silent C 25 MRPS25 SNP 3 C T 15075893 15075893 Broad NBEAL2 23218 broad.mit.edu GRCh37 3 47039163 47039163 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000450053.3:c.2937C>A p.Ile979= p.I979= ENST00000450053 NM_015175.2 979 atC/atA 0 Silent C 29 NBEAL2 SNP 3 C A 47014167 47014167 Broad PCYT1A 5130 broad.mit.edu GRCh37 3 195997337 195997337 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000292823.2:c.66C>T p.Asn22= p.N22= ENST00000292823 NM_005017.2 22 aaC/aaT 0 Silent G 40 PCYT1A SNP 3 G A 197481734 197481734 Broad PIGZ 80235 broad.mit.edu GRCh37 3 196674486 196674486 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000412723.1:c.1282G>A p.Gly428Ser p.G428S ENST00000412723 NM_025163.3 428 Ggc/Agc 0 Missense_Mutation C 23 PIGZ SNP 3 C T 198158883 198158883 Broad POLN 353497 broad.mit.edu GRCh37 4 2074720 2074720 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000511885.2:c.2492T>G p.Val831Gly p.V831G ENST00000511885 831 gTg/gGg 0 Missense_Mutation A 6 POLN SNP 4 A C 2044518 2044518 Broad ADAMTS16 170690 broad.mit.edu GRCh37 5 5235235 5235235 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000274181.7:c.1959C>T p.Ala653= p.A653= ENST00000274181 NM_139056.2 653 gcC/gcT 0 Silent C 23 ADAMTS16 SNP 5 C T 5288235 5288235 Broad STC2 8614 broad.mit.edu GRCh37 5 172744869 172744869 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000265087.4:c.890A>T p.Tyr297Phe p.Y297F ENST00000265087 NM_003714.2 297 tAt/tTt 0 Missense_Mutation T 49 STC2 SNP 5 T A 172677475 172677475 Broad RUFY1 80230 broad.mit.edu GRCh37 5 178996334 178996334 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000319449.4:c.736G>A p.Glu246Lys p.E246K ENST00000319449 NM_025158.4 246 Gag/Aag 0 Missense_Mutation G 41 RUFY1 SNP 5 G A 178928940 178928940 Broad PPP1R10 5514 broad.mit.edu GRCh37 6 30572408 30572408 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000376511.2:c.1059C>T p.Gly353= p.G353= ENST00000376511 NM_002714.3 353 ggC/ggT 0 Silent G 46 PPP1R10 SNP 6 G A 30680387 30680387 Broad RARS2 57038 broad.mit.edu GRCh37 6 88258335 88258335 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000369536.5:c.425T>G p.Val142Gly p.V142G ENST00000369536 NM_020320.3 142 gTt/gGt 0 Missense_Mutation A 2 RARS2 SNP 6 A C 88315054 88315054 Broad MICALL2 79778 broad.mit.edu GRCh37 7 1476384 1476384 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000297508.7:c.2585G>C p.Arg862Pro p.R862P ENST00000297508 NM_182924.3 862 cGg/cCg 0 Missense_Mutation C 23 MICALL2 SNP 7 C G 1442910 1442910 Broad FBXL18 80028 broad.mit.edu GRCh37 7 5540288 5540288 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000382368.3:c.1612C>T p.Leu538Phe p.L538F ENST00000382368 NM_024963.4 538 Ctc/Ttc 0 Missense_Mutation G 34 FBXL18 SNP 7 G A 5506814 5506814 Broad BAZ1B 9031 broad.mit.edu GRCh37 7 72891394 72891394 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000339594.4:c.2397A>G p.Lys799= p.K799= ENST00000339594 NM_032408.3 799 aaA/aaG 0 Silent T 56 BAZ1B SNP 7 T C 72529330 72529330 Broad YWHAG 7532 broad.mit.edu GRCh37 7 75959469 75959469 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000307630.3:c.169C>T p.Arg57Cys p.R57C ENST00000307630 NM_012479.3 57 Cgc/Tgc 0 Missense_Mutation G 39 YWHAG SNP 7 G A 75797405 75797405 Broad PPP1R3A 5506 broad.mit.edu GRCh37 7 113517860 113517860 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000284601.3:c.3287T>C p.Ile1096Thr p.I1096T ENST00000284601 NM_002711.3 1096 aTt/aCt 0 Missense_Mutation A 4 PPP1R3A SNP 7 A G 113305096 113305096 Broad MET 4233 broad.mit.edu GRCh37 7 116339936 116339936 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000397752.3:c.798G>C p.Arg266Ser p.R266S ENST00000397752 NM_000245.2 266 agG/agC 0 Missense_Mutation G 43 MET SNP 7 G C 116127172 116127172 Broad DOK2 9046 broad.mit.edu GRCh37 8 21766911 21766911 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000276420.4:c.1150G>T p.Val384Phe p.V384F ENST00000276420 NM_003974.2 384 Gtc/Ttc 0 Missense_Mutation C 17 DOK2 SNP 8 C A 21822857 21822857 Broad CYP7B1 9420 broad.mit.edu GRCh37 8 65527670 65527670 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000310193.3:c.970C>A p.Arg324Ser p.R324S ENST00000310193 NM_004820.3 324 Cgt/Agt 0 Missense_Mutation G 39 CYP7B1 SNP 8 G T 65690224 65690224 Broad RECQL4 9401 broad.mit.edu GRCh37 8 145738054 145738054 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000428558.2:c.2856C>G p.Gly952= p.G952= ENST00000428558 NM_004260.3 952 ggC/ggG 0 Silent G 42 RECQL4 SNP 8 G C 145708862 145708862 Broad FOXB2 442425 broad.mit.edu GRCh37 9 79634952 79634952 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000376708.1:c.382C>T p.Pro128Ser p.P128S ENST00000376708 NM_001013735.1 128 Ccg/Tcg 0 Missense_Mutation C 26 FOXB2 SNP 9 C T 78824772 78824772 Broad FAM102A 399665 broad.mit.edu GRCh37 9 130707805 130707805 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000373095.1:c.758C>T p.Ser253Leu p.S253L ENST00000373095 NM_001035254.2 253 tCa/tTa 0 Missense_Mutation G 45 FAM102A SNP 9 G A 129747626 129747626 Broad SURF1 6834 broad.mit.edu GRCh37 9 136218948 136218948 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown x x x ENST00000371974.3:c.801G>C p.Leu267= p.L267= ENST00000371974 NM_001280787.1 267 ctG/ctC 0 Silent C 29 SURF1 SNP 9 C G 135208769 135208769 Broad UBC 7316 broad.mit.edu GRCh37 12 125397961 125397986 + frameshift_variant Frame_Shift_Del DEL CAACCTCTGCTGGTCAGGAGGAATGC CAACCTCTGCTGGTCAGGAGGAATGC - novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000536769.1:c.332_357del p.Gly111AspfsTer15 p.G111Dfs*15 ENST00000536769 111 gGCATTCCTCCTGACCAGCAGAGGTTG/g 0 Frame_Shift_Del CAACCTCTGCTGGTCAGGAGGAATGC 29 UBC DEL 12 - CAACCTCTGCTGGTCAGGAGGAATGC 123963939 123963914 Broad TP53 7157 broad.mit.edu GRCh37 17 7579315 7579315 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.372del p.Cys124Ter p.C124* ENST00000269305 NM_001126112.2 124 tgC/tg 0 Frame_Shift_Del G 46 TP53 DEL 17 - G 7520040 7520040 Broad AATK 9625 broad.mit.edu GRCh37 17 79093270 79093271 + inframe_insertion In_Frame_Ins INS - - GGGCGT novel Unknown TCGA-25-1320-01 TCGA-25-1320-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000326724.4:c.3988_3993dup p.Thr1330_Pro1331dup p.T1330_P1331dup ENST00000326724 NM_001080395.2 1331 -/ACGCCC 0 In_Frame_Ins - 27 AATK INS 17 GGGCGT - 76707866 76707865 Broad SPEN 23013 broad.mit.edu GRCh37 1 16259192 16259192 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000375759.3:c.6457G>A p.Val2153Met p.V2153M ENST00000375759 NM_015001.2 2153 Gtg/Atg 0 Missense_Mutation G 40 SPEN SNP 1 G A 16131779 16131779 Broad HSPG2 3339 broad.mit.edu GRCh37 1 22205081 22205081 + synonymous_variant Silent SNP G G T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000374695.3:c.2547C>A p.Arg849= p.R849= ENST00000374695 NM_005529.5 849 cgC/cgA 0 Silent G 42 HSPG2 SNP 1 G T 22077668 22077668 Broad PAFAH2 5051 broad.mit.edu GRCh37 1 26303245 26303245 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000374282.3:c.686G>A p.Arg229His p.R229H ENST00000374282 NM_000437.3 229 cGt/cAt 0 Missense_Mutation C 19 PAFAH2 SNP 1 C T 26175832 26175832 Broad FAM167B 84734 broad.mit.edu GRCh37 1 32713083 32713083 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000373582.3:c.61G>T p.Gly21Trp p.G21W ENST00000373582 NM_032648.2 21 Ggg/Tgg 0 Missense_Mutation G 43 FAM167B SNP 1 G T 32485670 32485670 Broad LRRC8C 84230 broad.mit.edu GRCh37 1 90179703 90179703 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000370454.4:c.1574T>G p.Leu525Arg p.L525R ENST00000370454 NM_032270.4 525 cTa/cGa 0 Missense_Mutation T 53 LRRC8C SNP 1 T G 89952291 89952291 Broad NPL 80896 broad.mit.edu GRCh37 1 182787734 182787734 + synonymous_variant Silent SNP G G A novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000367553.1:c.516G>A p.Leu172= p.L172= ENST00000367553 NM_030769.2 172 ctG/ctA 0 Silent G 45 NPL SNP 1 G A 181054357 181054357 Broad NUP133 55746 broad.mit.edu GRCh37 1 229631266 229631266 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000261396.3:c.1022G>A p.Arg341Gln p.R341Q ENST00000261396 NM_018230.2 341 cGa/cAa 0 Missense_Mutation C 31 NUP133 SNP 1 C T 227697889 227697889 Broad OR2T5 401993 broad.mit.edu GRCh37 1 248652015 248652015 + synonymous_variant Silent SNP G G C novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000366473.2:c.126G>C p.Ala42= p.A42= ENST00000366473 NM_001004697.1 42 gcG/gcC 0 Silent G 40 OR2T5 SNP 1 G C 246718638 246718638 Broad C11orf24 53838 broad.mit.edu GRCh37 11 68030134 68030135 + missense_variant Missense_Mutation DNP AC AC GA novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000304271.6:c.328_329delinsTC p.Val110Ser p.V110S ENST00000304271 NM_022338.3 110 GTg/TCg 0 Missense_Mutation AC 6 C11orf24 DNP 11 AC GA 67786711 67786710 Broad RECQL 5965 broad.mit.edu GRCh37 12 21626516 21626516 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000421138.2:c.1416C>A p.Asn472Lys p.N472K ENST00000421138 472 aaC/aaA 0 Missense_Mutation G 48 RECQL SNP 12 G T 21517783 21517783 Broad H1FNT 341567 broad.mit.edu GRCh37 12 48723773 48723773 + synonymous_variant Silent SNP G G A novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000335017.1:c.699G>A p.Lys233= p.K233= ENST00000335017 NM_181788.1 233 aaG/aaA 0 Silent G 33 H1FNT SNP 12 G A 47010040 47010040 Broad MYL6 4637 broad.mit.edu GRCh37 12 56553369 56553369 + splice_acceptor_variant Splice_Site SNP A A G novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000550697.1:c.32-2A>G p.X11_splice ENST00000550697 NM_021019.4 0 Splice_Site_SNP A 7 MYL6 SNP 12 A G 54839636 54839636 Broad WIF1 11197 broad.mit.edu GRCh37 12 65471525 65471525 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000286574.4:c.397+1G>A p.X133_splice ENST00000286574 NM_007191.4 0 Splice_Site_SNP C 18 WIF1 SNP 12 C T 63757792 63757792 Broad VWA8 23078 broad.mit.edu GRCh37 13 42407524 42407524 + synonymous_variant Silent SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000379310.3:c.1569G>A p.Thr523= p.T523= ENST00000379310 NM_015058.1 523 acG/acA 0 Silent C 27 KIAA0564 SNP 13 C T 41305524 41305524 Broad SLITRK1 114798 broad.mit.edu GRCh37 13 84454755 84454755 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000377084.2:c.888G>T p.Glu296Asp p.E296D ENST00000377084 NM_052910.2 296 gaG/gaT 0 Missense_Mutation C 24 SLITRK1 SNP 13 C A 83352756 83352756 Broad NUMB 8650 broad.mit.edu GRCh37 14 73743432 73743432 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000355058.3:c.1810A>G p.Thr604Ala p.T604A ENST00000355058 604 Aca/Gca 0 Missense_Mutation T 57 NUMB SNP 14 T C 72813185 72813185 Broad AHNAK2 113146 broad.mit.edu GRCh37 14 105407993 105407993 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000333244.5:c.13795C>A p.Gln4599Lys p.Q4599K ENST00000333244 NM_138420.2 4599 Cag/Aag 0 Missense_Mutation G 47 AHNAK2 SNP 14 G T 104479038 104479038 Broad NPRL3 8131 broad.mit.edu GRCh37 16 150411 150411 + synonymous_variant Silent SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000399953.3:c.726G>A p.Leu242= p.L242= ENST00000399953 NM_001243247.1 242 ctG/ctA 0 Silent C 29 NPRL3 SNP 16 C T 90411 90411 Broad MAPK8IP3 23162 broad.mit.edu GRCh37 16 1817827 1817827 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000250894.4:c.3428C>T p.Ser1143Phe p.S1143F ENST00000250894 NM_015133.3 1143 tCc/tTc 0 Missense_Mutation C 30 MAPK8IP3 SNP 16 C T 1757828 1757828 Broad ZSCAN32 54925 broad.mit.edu GRCh37 16 3440120 3440120 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000304926.3:c.5G>A p.Arg2His p.R2H ENST00000304926 NM_017810.2 2 cGt/cAt 0 Missense_Mutation C 19 ZNF434 SNP 16 C T 3380121 3380121 Broad ERCC4 2072 broad.mit.edu GRCh37 16 14029536 14029536 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000311895.7:c.1747G>A p.Ala583Thr p.A583T ENST00000311895 NM_005236.2 583 Gca/Aca 0 Missense_Mutation G 38 ERCC4 SNP 16 G A 13937037 13937037 Broad GGA2 23062 broad.mit.edu GRCh37 16 23481341 23481341 + synonymous_variant Silent SNP G G T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000309859.4:c.1596C>A p.Ile532= p.I532= ENST00000309859 NM_015044.4 532 atC/atA 0 Silent G 45 GGA2 SNP 16 G T 23388842 23388842 Broad CLUH 23277 broad.mit.edu GRCh37 17 2604478 2604478 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000570628.2:c.867C>G p.Ile289Met p.I289M ENST00000570628 289 atC/atG 0 Missense_Mutation G 45 KIAA0664 SNP 17 G C 2551228 2551228 Broad TP53 7157 broad.mit.edu GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T rs11540652 byHapMap TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 Missense_Mutation C 23 TP53 SNP 17 C T 7518263 7518263 Broad MBTD1 54799 broad.mit.edu GRCh37 17 49270165 49270165 + synonymous_variant Silent SNP T T C novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000586178.1:c.1668A>G p.Gln556= p.Q556= ENST00000586178 NM_017643.2 556 caA/caG 0 Silent T 60 MBTD1 SNP 17 T C 46625164 46625164 Broad TXNDC2 84203 broad.mit.edu GRCh37 18 9887220 9887220 + synonymous_variant Silent SNP G G A novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000306084.6:c.744G>A p.Gln248= p.Q248= ENST00000306084 NM_001098529.1 248 caG/caA 0 Silent G 34 TXNDC2 SNP 18 G A 9877220 9877220 Broad CEP192 55125 broad.mit.edu GRCh37 18 13059273 13059273 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000506447.1:c.4450G>A p.Val1484Ile p.V1484I ENST00000506447 NM_032142.3 1484 Gtc/Atc 0 Missense_Mutation G 40 CEP192 SNP 18 G A 13049273 13049273 Broad ZNF846 162993 broad.mit.edu GRCh37 19 9868185 9868185 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000397902.2:c.1568A>G p.Lys523Arg p.K523R ENST00000397902 NM_001077624.1 523 aAa/aGa 0 Missense_Mutation T 64 ZNF846 SNP 19 T C 9729185 9729185 Broad ZNF14 7561 broad.mit.edu GRCh37 19 19823594 19823594 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000344099.3:c.496G>A p.Val166Met p.V166M ENST00000344099 NM_021030.2 166 Gtg/Atg 0 Missense_Mutation C 20 ZNF14 SNP 19 C T 19684594 19684594 Broad KCNN4 3783 broad.mit.edu GRCh37 19 44284855 44284855 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000262888.3:c.159G>A p.Ser53= p.S53= ENST00000262888 NM_002250.2 53 tcG/tcA 0 Silent C 23 KCNN4 SNP 19 C T 48976695 48976695 Broad ZC3H4 23211 broad.mit.edu GRCh37 19 47570525 47570525 + synonymous_variant Silent SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000253048.5:c.3000G>A p.Ala1000= p.A1000= ENST00000253048 NM_015168.1 1000 gcG/gcA 0 Silent C 23 ZC3H4 SNP 19 C T 52262365 52262365 Broad NLRP11 204801 broad.mit.edu GRCh37 19 56307617 56307617 + splice_acceptor_variant Splice_Site SNP C C A novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000443188.1:c.2172-1G>T p.X724_splice ENST00000443188 NM_145007.3 0 Splice_Site_SNP C 28 NLRP11 SNP 19 C A 60999429 60999429 Broad PTPN4 5775 broad.mit.edu GRCh37 2 120723097 120723097 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000263708.2:c.2434C>G p.Gln812Glu p.Q812E ENST00000263708 NM_002830.3 812 Cag/Gag 0 Missense_Mutation C 29 PTPN4 SNP 2 C G 120439567 120439567 Broad AGPS 8540 broad.mit.edu GRCh37 2 178301755 178301755 + synonymous_variant Silent SNP C C A novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000264167.4:c.610C>A p.Arg204= p.R204= ENST00000264167 NM_003659.3 204 Cga/Aga 0 Silent C 27 AGPS SNP 2 C A 178010001 178010001 Broad CST7 8530 broad.mit.edu GRCh37 20 24937932 24937932 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000480798.1:c.80C>A p.Ser27Tyr p.S27Y ENST00000480798 NM_003650.3 27 tCc/tAc 0 Missense_Mutation C 30 CST7 SNP 20 C A 24885932 24885932 Broad ASXL1 171023 broad.mit.edu GRCh37 20 30956917 30956917 + synonymous_variant Silent SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000375687.4:c.243C>T p.Phe81= p.F81= ENST00000375687 NM_015338.5 81 ttC/ttT 0 Silent C 29 ASXL1 SNP 20 C T 30420578 30420578 Broad MYH7B 57644 broad.mit.edu GRCh37 20 33588219 33588219 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000262873.7:c.5031G>C p.Gln1677His p.Q1677H ENST00000262873 NM_020884.3 1677 caG/caC 0 Missense_Mutation G 34 MYH7B SNP 20 G C 33051880 33051880 Broad SS18L1 26039 broad.mit.edu GRCh37 20 60749624 60749624 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000331758.3:c.1088G>A p.Gly363Asp p.G363D ENST00000331758 NM_198935.1 363 gGc/gAc 0 Missense_Mutation G 42 SS18L1 SNP 20 G A 60183019 60183019 Broad GMEB2 26205 broad.mit.edu GRCh37 20 62250735 62250735 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000266068.1:c.16G>A p.Val6Met p.V6M ENST00000266068 6 Gtg/Atg 0 Missense_Mutation C 19 GMEB2 SNP 20 C T 61721179 61721179 Broad LTN1 26046 broad.mit.edu GRCh37 21 30324516 30324516 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000389194.2:c.3448G>A p.Asp1150Asn p.D1150N ENST00000389194 NM_015565.2 1150 Gat/Aat 0 Missense_Mutation C 29 RNF160 SNP 21 C T 29246387 29246387 Broad SMARCB1 6598 broad.mit.edu GRCh37 22 24167603 24167604 + splice_donor_variant Splice_Site DNP GT GT AC novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000263121.7:c.986+1_986+2inv p.X329_splice ENST00000263121 NM_003073.3 0 Splice_Site_SNP GT 44 SMARCB1 DNP 22 GT AC 22497604 22497603 Broad NCAPH2 29781 broad.mit.edu GRCh37 22 50960778 50960778 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000299821.11:c.1240G>T p.Glu414Ter p.E414* ENST00000299821 414 Gag/Tag 0 Nonsense_Mutation G 45 NCAPH2 SNP 22 G T 49307644 49307644 Broad HDAC11 79885 broad.mit.edu GRCh37 3 13542290 13542290 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000295757.3:c.489+1G>C p.X163_splice ENST00000295757 NM_024827.3 0 Splice_Site_SNP G 44 HDAC11 SNP 3 G C 13517290 13517290 Broad DNAH1 25981 broad.mit.edu GRCh37 3 52423490 52423490 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000420323.2:c.9509C>T p.Thr3170Met p.T3170M ENST00000420323 NM_015512.4 3170 aCg/aTg 0 Missense_Mutation C 19 DNAH1 SNP 3 C T 52398530 52398530 Broad ZMAT3 64393 broad.mit.edu GRCh37 3 178785321 178785321 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000311417.2:c.220C>G p.Leu74Val p.L74V ENST00000311417 NM_022470.3 74 Ctc/Gtc 0 Missense_Mutation G 36 ZMAT3 SNP 3 G C 180268015 180268015 Broad NPFFR2 10886 broad.mit.edu GRCh37 4 72994447 72994447 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000308744.6:c.445A>G p.Ile149Val p.I149V ENST00000308744 NM_004885.2 149 Atc/Gtc 0 Missense_Mutation A 4 NPFFR2 SNP 4 A G 73213311 73213311 Broad CDH10 1008 broad.mit.edu GRCh37 5 24488157 24488157 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000264463.4:c.1982G>A p.Gly661Asp p.G661D ENST00000264463 NM_006727.3 661 gGt/gAt 0 Missense_Mutation C 18 CDH10 SNP 5 C T 24523914 24523914 Broad ACTBL2 345651 broad.mit.edu GRCh37 5 56777932 56777932 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000423391.1:c.603C>A p.Phe201Leu p.F201L ENST00000423391 NM_001017992.3 201 ttC/ttA 0 Missense_Mutation G 45 ACTBL2 SNP 5 G T 56813689 56813689 Broad ACTBL2 345651 broad.mit.edu GRCh37 5 56778051 56778051 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000423391.1:c.484C>A p.His162Asn p.H162N ENST00000423391 NM_001017992.3 162 Cac/Aac 0 Missense_Mutation G 45 ACTBL2 SNP 5 G T 56813808 56813808 Broad RGL2 5863 broad.mit.edu GRCh37 6 33261243 33261243 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000497454.1:c.1663G>A p.Gly555Arg p.G555R ENST00000497454 NM_004761.4 555 Ggg/Agg 0 Missense_Mutation C 21 RGL2 SNP 6 C T 33369221 33369221 Broad CLVS2 134829 broad.mit.edu GRCh37 6 123319036 123319036 + synonymous_variant Silent SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000275162.5:c.114C>T p.Val38= p.V38= ENST00000275162 NM_001010852.3 38 gtC/gtT 0 Silent C 29 CLVS2 SNP 6 C T 123360735 123360735 Broad HIVEP2 3097 broad.mit.edu GRCh37 6 143095727 143095727 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000367603.2:c.149T>C p.Ile50Thr p.I50T ENST00000367603 NM_006734.3 50 aTa/aCa 0 Missense_Mutation A 16 HIVEP2 SNP 6 A G 143137420 143137420 Broad LAMB4 22798 broad.mit.edu GRCh37 7 107752378 107752378 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000388781.3:c.206G>A p.Cys69Tyr p.C69Y ENST00000388781 NM_007356.2 69 tGc/tAc 0 Missense_Mutation C 25 LAMB4 SNP 7 C T 107539614 107539614 Broad IQUB 154865 broad.mit.edu GRCh37 7 123101473 123101473 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000466202.1:c.1945C>T p.Gln649Ter p.Q649* ENST00000466202 NM_001282855.1 649 Caa/Taa 0 Nonsense_Mutation G 45 IQUB SNP 7 G A 122888709 122888709 Broad EQTN 54586 broad.mit.edu GRCh37 9 27286331 27286331 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000380032.3:c.511A>T p.Asn171Tyr p.N171Y ENST00000380032 NM_020641.2 171 Aat/Tat 0 Missense_Mutation T 64 C9orf11 SNP 9 T A 27276331 27276331 Broad FAM166B 730112 broad.mit.edu GRCh37 9 35562533 35562533 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000399742.2:c.583G>C p.Gly195Arg p.G195R ENST00000399742 NM_001164310.1 195 Ggc/Cgc 0 Missense_Mutation C 23 FAM166B SNP 9 C G 35552533 35552533 Broad PGK1 5230 broad.mit.edu GRCh37 X 77369244 77369244 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-57-1993-01 TCGA-57-1993-11 Unknown Unknown Unknown x x x ENST00000373316.4:c.120T>G p.Ile40Met p.I40M ENST00000373316 NM_000291.3 40 atT/atG 0 Missense_Mutation T 61 PGK1 SNP 23 T G 77255900 77255900 Broad TMEM57 55219 broad.mit.edu GRCh37 1 25818063 25818063 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000374343.4:c.1780G>A p.Glu594Lys p.E594K ENST00000374343 NM_018202.4 594 Gag/Aag 0 Missense_Mutation G 37 TMEM57 SNP 1 G A 25690650 25690650 Broad CATSPER4 378807 broad.mit.edu GRCh37 1 26527920 26527920 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000456354.2:c.1275G>A p.Thr425= p.T425= ENST00000456354 NM_198137.1 425 acG/acA 0 Silent G 37 CATSPER4 SNP 1 G A 26400507 26400507 Broad CCDC17 149483 broad.mit.edu GRCh37 1 46086453 46086453 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000528266.1:c.1652T>C p.Val551Ala p.V551A ENST00000528266 551 gTa/gCa 0 Missense_Mutation A 14 CCDC17 SNP 1 A G 45859040 45859040 Broad DOCK7 85440 broad.mit.edu GRCh37 1 63096926 63096926 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000340370.5:c.1267G>A p.Glu423Lys p.E423K ENST00000340370 NM_033407.3 423 Gaa/Aaa 0 Missense_Mutation C 32 DOCK7 SNP 1 C T 62869514 62869514 Broad SGIP1 84251 broad.mit.edu GRCh37 1 67154922 67154922 + synonymous_variant Silent SNP A A T novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000371037.4:c.1407A>T p.Pro469= p.P469= ENST00000371037 NM_032291.2 469 ccA/ccT 0 Silent A 5 SGIP1 SNP 1 A T 66927510 66927510 Broad NRAS 4893 broad.mit.edu GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T T C rs11554290 byHapMap TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000369535.4:c.182A>G p.Gln61Arg p.Q61R ENST00000369535 NM_002524.4 61 cAa/cGa 0 Missense_Mutation T 63 NRAS SNP 1 T C 115058052 115058052 Broad XCL2 6846 broad.mit.edu GRCh37 1 168511317 168511317 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000367819.2:c.90G>C p.Arg30Ser p.R30S ENST00000367819 NM_003175.3 30 agG/agC 0 Missense_Mutation C 30 XCL2 SNP 1 C G 166777941 166777941 Broad FAT3 120114 broad.mit.edu GRCh37 11 92531462 92531462 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000298047.6:c.5283T>A p.Asp1761Glu p.D1761E ENST00000298047 1761 gaT/gaA 0 Missense_Mutation T 51 FAT3 SNP 11 T A 92171110 92171110 Broad COQ10A 93058 broad.mit.edu GRCh37 12 56661667 56661667 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000308197.5:c.224G>C p.Gly75Ala p.G75A ENST00000308197 NM_144576.3 75 gGa/gCa 0 Missense_Mutation G 41 COQ10A SNP 12 G C 54947934 54947934 Broad MOAP1 64112 broad.mit.edu GRCh37 14 93650289 93650289 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000556883.1:c.299A>G p.Asn100Ser p.N100S ENST00000556883 100 aAt/aGt 0 Missense_Mutation T 52 MOAP1 SNP 14 T C 92720042 92720042 Broad SCNN1B 6338 broad.mit.edu GRCh37 16 23391924 23391924 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000343070.2:c.1725G>C p.Pro575= p.P575= ENST00000343070 NM_000336.2 575 ccG/ccC 0 Silent G 38 SCNN1B SNP 16 G C 23299425 23299425 Broad TP53 7157 broad.mit.edu GRCh37 17 7578239 7578239 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.610G>T p.Glu204Ter p.E204* ENST00000269305 NM_001126112.2 204 Gag/Tag 0 Nonsense_Mutation C 30 TP53 SNP 17 C A 7518964 7518964 Broad ABCA10 10349 broad.mit.edu GRCh37 17 67183849 67183849 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000269081.4:c.2303G>T p.Arg768Met p.R768M ENST00000269081 NM_080282.3 768 aGg/aTg 0 Missense_Mutation C 24 ABCA10 SNP 17 C A 64695444 64695444 Broad SNRNP200 23020 broad.mit.edu GRCh37 2 96942719 96942719 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000323853.5:c.6097G>A p.Gly2033Arg p.G2033R ENST00000323853 NM_014014.4 2033 Ggg/Agg 0 Missense_Mutation C 23 SNRNP200 SNP 2 C T 96306446 96306446 Broad KCNG1 3755 broad.mit.edu GRCh37 20 49626321 49626321 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000371571.4:c.555G>A p.Glu185= p.E185= ENST00000371571 NM_002237.3 185 gaG/gaA 0 Silent C 24 KCNG1 SNP 20 C T 49059728 49059728 Broad CWH43 80157 broad.mit.edu GRCh37 4 49005847 49005847 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000226432.4:c.898C>A p.Gln300Lys p.Q300K ENST00000226432 NM_025087.2 300 Caa/Aaa 0 Missense_Mutation C 21 CWH43 SNP 4 C A 48700604 48700604 Broad SCML4 256380 broad.mit.edu GRCh37 6 108070993 108070993 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000369020.3:c.181C>A p.Pro61Thr p.P61T ENST00000369020 NM_198081.3 61 Ccc/Acc 0 Missense_Mutation G 41 SCML4 SNP 6 G T 108177686 108177686 Broad OR2A4 79541 broad.mit.edu GRCh37 6 132022469 132022469 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000315453.2:c.73C>T p.Leu25Phe p.L25F ENST00000315453 NM_030908.1 25 Ctc/Ttc 0 Missense_Mutation G 34 OR2A4 SNP 6 G A 132064162 132064162 Broad ZNF804B 219578 broad.mit.edu GRCh37 7 88964402 88964402 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000333190.4:c.2106G>C p.Gln702His p.Q702H ENST00000333190 NM_181646.2 702 caG/caC 0 Missense_Mutation G 36 ZNF804B SNP 7 G C 88802338 88802338 Broad DGKI 9162 broad.mit.edu GRCh37 7 137304604 137304604 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000288490.5:c.959C>T p.Pro320Leu p.P320L ENST00000288490 NM_004717.2 320 cCg/cTg 0 Missense_Mutation G 39 DGKI SNP 7 G A 136955144 136955144 Broad TRPV6 55503 broad.mit.edu GRCh37 7 142569718 142569718 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown x x x ENST00000359396.3:c.1920C>T p.Asn640= p.N640= ENST00000359396 NM_018646.4 640 aaC/aaT 0 Silent G 44 TRPV6 SNP 7 G A 142279840 142279840 Broad ZAN 7455 broad.mit.edu GRCh37 7 100385562 100385596 + frameshift_variant Frame_Shift_Del DEL GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT - novel Unknown TCGA-61-2016-01 TCGA-61-2016-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000546292.1:c.7029_7063del p.Phe2344SerfsTer10 p.F2344Sfs*10 ENST00000546292 NM_173059.1 2343 gGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT/g 0 Frame_Shift_Del GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT 42 ZAN DEL 7 - - 100223532 100223498 Broad ACTN2 88 hgsc.bcm.edu GRCh37 1 236918421 236918421 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000366578.4:c.2077G>A p.Asp693Asn p.D693N ENST00000366578 NM_001278344.1 693 Gac/Aac 0 Missense_Mutation G 37 ACTN2 SNP 1 G A 234985044 234985044 Baylor ANKRD12 23253 hgsc.bcm.edu GRCh37 18 9255224 9255224 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262126.4:c.1959T>C p.His653= p.H653= ENST00000262126 NM_015208.4 653 caT/caC 0 Silent T 49 ANKRD12 SNP 18 T C 9245224 9245224 Baylor C14orf28 122525 hgsc.bcm.edu GRCh37 14 45373649 45373649 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000325192.3:c.666C>A p.Pro222= p.P222= ENST00000325192 NM_001017923.1 222 ccC/ccA 0 Silent C 22 C14orf28 SNP 14 C A 44443399 44443399 Baylor C1QTNF7 114905 hgsc.bcm.edu GRCh37 4 15437508 15437508 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295297.4:c.162A>G p.Gly54= p.G54= ENST00000295297 NM_001135170.1 54 ggA/ggG 0 Silent A 11 C1QTNF7 SNP 4 A G 15046606 15046606 Baylor CASP1 834 hgsc.bcm.edu GRCh37 11 104899872 104899872 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000533400.1:c.985G>A p.Ala329Thr p.A329T ENST00000533400 NM_001257118.1 329 Gct/Act 0 Missense_Mutation C 27 CASP1 SNP 11 C T 104405082 104405082 Baylor CCT6B 10693 hgsc.bcm.edu GRCh37 17 33279009 33279009 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000314144.5:c.574G>C p.Glu192Gln p.E192Q ENST00000314144 NM_006584.3 192 Gaa/Caa 0 Missense_Mutation C 32 CCT6B SNP 17 C G 30303122 30303122 Baylor COL7A1 1294 hgsc.bcm.edu GRCh37 3 48605952 48605952 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328333.8:c.7774G>A p.Ala2592Thr p.A2592T ENST00000328333 NM_000094.3 2592 Gca/Aca 0 Missense_Mutation C 28 COL7A1 SNP 3 C T 48580956 48580956 Baylor CPXCR1 53336 hgsc.bcm.edu GRCh37 X 88008468 88008468 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000276127.4:c.53A>T p.Asn18Ile p.N18I ENST00000276127 NM_033048.5 18 aAt/aTt 0 Missense_Mutation A 4 CPXCR1 SNP 23 A T 87895124 87895124 Baylor CXorf21 80231 hgsc.bcm.edu GRCh37 X 30578015 30578015 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378962.3:c.458G>A p.Gly153Asp p.G153D ENST00000378962 NM_025159.2 153 gGc/gAc 0 Missense_Mutation C 26 CXorf21 SNP 23 C T 30487936 30487936 Baylor CYP8B1 1582 hgsc.bcm.edu GRCh37 3 42916315 42916315 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000316161.4:c.994G>A p.Gly332Ser p.G332S ENST00000316161 NM_004391.2 332 Ggt/Agt 0 Missense_Mutation C 23 CYP8B1 SNP 3 C T 42891319 42891319 Baylor DAG1 1605 hgsc.bcm.edu GRCh37 3 49568626 49568626 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000545947.1:c.682G>T p.Val228Leu p.V228L ENST00000545947 NM_001177634.2 228 Gtg/Ttg 0 Missense_Mutation G 36 DAG1 SNP 3 G T 49543630 49543630 Baylor DIP2B 57609 hgsc.bcm.edu GRCh37 12 51074522 51074522 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000301180.5:c.1182A>T p.Glu394Asp p.E394D ENST00000301180 NM_173602.2 394 gaA/gaT 0 Missense_Mutation A 2 DIP2B SNP 12 A T 49360789 49360789 Baylor DNAH2 146754 hgsc.bcm.edu GRCh37 17 7636505 7636505 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000572933.1:c.500A>T p.Tyr167Phe p.Y167F ENST00000572933 167 tAt/tTt 0 Missense_Mutation A 16 DNAH2 SNP 17 A T 7577230 7577230 Baylor ESPL1 9700 hgsc.bcm.edu GRCh37 12 53663779 53663779 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000257934.4:c.1053C>T p.Thr351= p.T351= ENST00000257934 NM_012291.4 351 acC/acT 0 Silent C 21 ESPL1 SNP 12 C T 51950046 51950046 Baylor GAREM 64762 hgsc.bcm.edu GRCh37 18 29866996 29866996 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269209.6:c.1564G>C p.Ala522Pro p.A522P ENST00000269209 522 Gcc/Ccc 0 Missense_Mutation C 28 FAM59A SNP 18 C G 28120994 28120994 Baylor FRMD1 79981 hgsc.bcm.edu GRCh37 6 168464403 168464403 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000283309.6:c.682C>T p.Arg228Trp p.R228W ENST00000283309 NM_024919.3 228 Cgg/Tgg 0 Missense_Mutation G 39 FRMD1 SNP 6 G A 168207252 168207252 Baylor HIST1H1T 3010 hgsc.bcm.edu GRCh37 6 26108018 26108018 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000338379.4:c.304G>C p.Gly102Arg p.G102R ENST00000338379 NM_005323.3 102 Ggt/Cgt 0 Missense_Mutation C 22 HIST1H1T SNP 6 C G 26215997 26215997 Baylor KIAA2018 205717 hgsc.bcm.edu GRCh37 3 113377482 113377482 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000316407.4:c.3047delA p.Asn1016ThrfsTer23 p.N1016Tfs*23 ENST00000316407 NM_001009899.2 1016 aAc/ac 0 Frame_Shift_Del T 60 KIAA2018 DEL 3 T - 114860172 114860172 Baylor MAN2B1 4125 hgsc.bcm.edu GRCh37 19 12774554 12774554 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000456935.2:c.726C>T p.Ser242= p.S242= ENST00000456935 NM_000528.3 242 agC/agT 0 Silent G 46 MAN2B1 SNP 19 G A 12635554 12635554 Baylor MASTL 84930 hgsc.bcm.edu GRCh37 10 27459587 27459587 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375940.4:c.1699A>G p.Met567Val p.M567V ENST00000375940 567 Atg/Gtg 0 Missense_Mutation A 16 MASTL SNP 10 A G 27499593 27499593 Baylor MMP16 4325 hgsc.bcm.edu GRCh37 8 89128918 89128918 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000286614.6:c.901A>T p.Arg301Ter p.R301* ENST00000286614 NM_005941.4 301 Aga/Tga 0 Nonsense_Mutation T 56 MMP16 SNP 8 T A 89198034 89198034 Baylor MOSPD3 64598 hgsc.bcm.edu GRCh37 7 100211201 100211201 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393950.2:c.383G>A p.Arg128His p.R128H ENST00000393950 NM_023948.4 128 cGc/cAc 0 Missense_Mutation G 38 MOSPD3 SNP 7 G A 100049137 100049137 Baylor NES 10763 hgsc.bcm.edu GRCh37 1 156641953 156641953 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368223.3:c.2027A>G p.Glu676Gly p.E676G ENST00000368223 NM_006617.1 676 gAg/gGg 0 Missense_Mutation T 54 NES SNP 1 T C 154908577 154908577 Baylor OLFML1 283298 hgsc.bcm.edu GRCh37 11 7509443 7509443 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000329293.3:c.215G>T p.Gly72Val p.G72V ENST00000329293 NM_198474.3 72 gGa/gTa 0 Missense_Mutation G 41 OLFML1 SNP 11 G T 7466019 7466019 Baylor PBX2 5089 hgsc.bcm.edu GRCh37 6 32156565 32156565 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375050.4:c.230C>T p.Ala77Val p.A77V ENST00000375050 NM_002586.4 77 gCc/gTc 0 Missense_Mutation G 42 PBX2 SNP 6 G A 32264543 32264543 Baylor PCNXL3 399909 hgsc.bcm.edu GRCh37 11 65389726 65389726 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355703.3:c.2246T>C p.Leu749Pro p.L749P ENST00000355703 NM_032223.2 749 cTg/cCg 0 Missense_Mutation T 55 PCNXL3 SNP 11 T C 65146302 65146302 Baylor PPFIA2 8499 hgsc.bcm.edu GRCh37 12 81732980 81732980 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000549396.1:c.2527A>G p.Lys843Glu p.K843E ENST00000549396 NM_003625.3 843 Aaa/Gaa 0 Missense_Mutation T 64 PPFIA2 SNP 12 T C 80257111 80257111 Baylor PRPSAP1 5635 hgsc.bcm.edu GRCh37 17 74309053 74309053 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000446526.3:c.897G>A p.Glu299= p.E299= ENST00000446526 NM_002766.2 299 gaG/gaA 0 Silent C 32 PRPSAP1 SNP 17 C T 71820648 71820648 Baylor PRR4 11272 hgsc.bcm.edu GRCh37 12 10999790 10999790 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000228811.4:c.277C>T p.Arg93Ter p.R93* ENST00000228811 NM_007244.2 93 Cga/Tga 0 Nonsense_Mutation G 40 PRR4 SNP 12 G A 10891057 10891057 Baylor PTCH1 5727 hgsc.bcm.edu GRCh37 9 98218666 98218666 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000331920.6:c.3198G>A p.Glu1066= p.E1066= ENST00000331920 NM_000264.3 1066 gaG/gaA 0 Silent C 28 PTCH1 SNP 9 C T 97258487 97258487 Baylor RANBP6 26953 hgsc.bcm.edu GRCh37 9 6014121 6014123 + inframe_deletion In_Frame_Del DEL TTT TTT - novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 TTT TTT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000259569.5:c.1485_1487del p.Lys495del p.K495del ENST00000259569 NM_012416.3 495 aaAAAt/aat 0 In_Frame_Del TTT 52 RANBP6 DEL 9 TTT - 6004123 6004121 Baylor RBM12B 389677 hgsc.bcm.edu GRCh37 8 94746534 94746534 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399300.2:c.2105C>T p.Pro702Leu p.P702L ENST00000399300 NM_203390.2 702 cCc/cTc 0 Missense_Mutation G 43 RBM12B SNP 8 G A 94815710 94815710 Baylor RHOT1 55288 hgsc.bcm.edu GRCh37 17 30526010 30526010 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358365.3:c.914C>T p.Ala305Val p.A305V ENST00000358365 NM_001033568.1 305 gCa/gTa 0 Missense_Mutation C 25 RHOT1 SNP 17 C T 27550123 27550123 Baylor SESN2 83667 hgsc.bcm.edu GRCh37 1 28599184 28599184 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000253063.3:c.630C>T p.Phe210= p.F210= ENST00000253063 NM_031459.4 210 ttC/ttT 0 Silent C 31 SESN2 SNP 1 C T 28471771 28471771 Baylor SIGLEC11 114132 hgsc.bcm.edu GRCh37 19 50461967 50461967 + synonymous_variant Silent SNP T T G novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000447370.2:c.1296A>C p.Gly432= p.G432= ENST00000447370 NM_052884.2 432 ggA/ggC 0 Silent T 54 SIGLEC11 SNP 19 T G 55153779 55153779 Baylor SLC28A1 9154 hgsc.bcm.edu GRCh37 15 85447460 85447460 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000394573.1:c.594T>A p.His198Gln p.H198Q ENST00000394573 NM_004213.3 198 caT/caA 0 Missense_Mutation T 50 SLC28A1 SNP 15 T A 83248464 83248464 Baylor SLFN11 91607 hgsc.bcm.edu GRCh37 17 33679891 33679891 + synonymous_variant Silent SNP T T A novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000394566.1:c.2190A>T p.Ile730= p.I730= ENST00000394566 NM_001104587.1 730 atA/atT 0 Silent T 53 SLFN11 SNP 17 T A 30704004 30704004 Baylor SMPDL3B 27293 hgsc.bcm.edu GRCh37 1 28282473 28282473 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373894.3:c.885C>T p.Ser295= p.S295= ENST00000373894 NM_014474.2 295 agC/agT 0 Silent C 27 SMPDL3B SNP 1 C T 28155060 28155060 Baylor SMYD1 150572 hgsc.bcm.edu GRCh37 2 88387456 88387456 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000419482.2:c.390C>T p.Asp130= p.D130= ENST00000419482 NM_198274.3 130 gaC/gaT 0 Silent C 19 SMYD1 SNP 2 C T 88168571 88168571 Baylor SOS1 6654 hgsc.bcm.edu GRCh37 2 39213013 39213013 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000402219.2:c.3954C>G p.Ser1318= p.S1318= ENST00000402219 NM_005633.3 1318 tcC/tcG 0 Silent G 47 SOS1 SNP 2 G C 39066517 39066517 Baylor TMEM185A 84548 hgsc.bcm.edu GRCh37 X 148690459 148690459 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000316916.8:c.278T>A p.Leu93His p.L93H ENST00000316916 NM_032508.2 93 cTc/cAc 0 Missense_Mutation A 11 TMEM185A SNP 23 A T 148498255 148498255 Baylor TMEM37 140738 hgsc.bcm.edu GRCh37 2 120194651 120194652 + protein_altering_variant In_Frame_Ins INS - - GTGTGC rs3217464 Unknown TCGA-23-1024-01 TCGA-23-1024-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000306406.4:c.208_209insGTGTGC p.Thr70delinsSerValPro p.T70delinsSVP ENST00000306406 NM_183240.2 70 acg/aGTGTGCcg 0 In_Frame_Ins - 10 TMEM37 INS 2 - GTGTGC 119911122 119911121 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7579362 7579363 + frameshift_variant Frame_Shift_Ins INS - - ACCGT novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269305.4:c.320_324dup p.Phe109ThrfsTer16 p.F109Tfs*16 ENST00000269305 NM_001126112.2 108 -/ACGGT 0 Frame_Shift_Ins - 1 TP53 INS 17 - ACCGT 7520088 7520087 Baylor TRH 7200 hgsc.bcm.edu GRCh37 3 129695772 129695772 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302649.3:c.442G>T p.Val148Phe p.V148F ENST00000302649 NM_007117.4 148 Gtc/Ttc 0 Missense_Mutation G 48 TRH SNP 3 G T 131178462 131178462 Baylor VN1R5 317705 hgsc.bcm.edu GRCh37 1 247420027 247420027 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000472952.2:n.654C>T *218* ENST00000472952 0 Missense_Mutation C 17 VN1R5 SNP 1 C T 245486650 245486650 Baylor ZNF789 285989 hgsc.bcm.edu GRCh37 7 99081750 99081750 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1024-01 TCGA-23-1024-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000331410.5:c.249C>T p.Ser83= p.S83= ENST00000331410 NM_213603.2 83 tcC/tcT 0 Silent C 23 ZNF789 SNP 7 C T 98919686 98919686 Baylor ANO3 63982 hgsc.bcm.edu GRCh37 11 26660769 26660769 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000256737.3:c.2122T>A p.Phe708Ile p.F708I ENST00000256737 NM_031418.2 708 Ttc/Atc 0 Missense_Mutation T 56 ANO3 SNP 11 T A 26617345 26617345 Baylor APLF 200558 hgsc.bcm.edu GRCh37 2 68805019 68805019 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000303795.4:c.1401C>A p.Ser467Arg p.S467R ENST00000303795 NM_173545.2 467 agC/agA 0 Missense_Mutation C 28 APLF SNP 2 C A 68658523 68658523 Baylor APOB 338 hgsc.bcm.edu GRCh37 2 21230896 21230896 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000233242.1:c.8844C>T p.Phe2948= p.F2948= ENST00000233242 NM_000384.2 2948 ttC/ttT 0 Silent G 45 APOB SNP 2 G A 21084401 21084401 Baylor APTX 54840 hgsc.bcm.edu GRCh37 9 32988112 32988118 + frameshift_variant Frame_Shift_Del DEL TCTGCTT TCTGCTT - novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 TCTGCTT TCTGCTT . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379813.3:c.143_149del p.Lys48SerfsTer9 p.K48Sfs*9 ENST00000379813 48 aAAGCAGAg/ag 0 Frame_Shift_Del TCTGCTT 54 APTX DEL 9 TCTGCTT - 32978118 32978112 Baylor ARFGEF1 10565 hgsc.bcm.edu GRCh37 8 68123823 68123823 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262215.3:c.4714A>G p.Ile1572Val p.I1572V ENST00000262215 NM_006421.4 1572 Att/Gtt 0 Missense_Mutation T 49 ARFGEF1 SNP 8 T C 68286377 68286377 Baylor CARD6 84674 hgsc.bcm.edu GRCh37 5 40854092 40854092 + synonymous_variant Silent SNP A A T novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000254691.5:c.2658A>T p.Ile886= p.I886= ENST00000254691 NM_032587.3 886 atA/atT 0 Silent A 13 CARD6 SNP 5 A T 40889849 40889849 Baylor CCDC141 285025 hgsc.bcm.edu GRCh37 2 179701828 179701828 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000420890.2:c.4118G>T p.Arg1373Met p.R1373M ENST00000420890 NM_173648.3 1373 aGg/aTg 0 Missense_Mutation C 24 CCDC141 SNP 2 C A 179410073 179410073 Baylor COL22A1 169044 hgsc.bcm.edu GRCh37 8 139703108 139703108 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000303045.6:c.2764G>A p.Gly922Arg p.G922R ENST00000303045 NM_152888.1 922 Gga/Aga 0 Missense_Mutation C 23 COL22A1 SNP 8 C T 139772290 139772290 Baylor COL6A3 1293 hgsc.bcm.edu GRCh37 2 238285666 238285666 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295550.4:c.2819T>G p.Val940Gly p.V940G ENST00000295550 NM_004369.3 940 gTg/gGg 0 Missense_Mutation A 6 COL6A3 SNP 2 A C 237950405 237950405 Baylor CPXCR1 53336 hgsc.bcm.edu GRCh37 X 88009031 88009031 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000276127.4:c.616C>T p.Arg206Cys p.R206C ENST00000276127 NM_033048.5 206 Cgt/Tgt 0 Missense_Mutation C 23 CPXCR1 SNP 23 C T 87895687 87895687 Baylor CRISPLD1 83690 hgsc.bcm.edu GRCh37 8 75924704 75924704 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262207.4:c.295T>A p.Trp99Arg p.W99R ENST00000262207 NM_031461.5 99 Tgg/Agg 0 Missense_Mutation T 55 CRISPLD1 SNP 8 T A 76087259 76087259 Baylor CSRNP3 80034 hgsc.bcm.edu GRCh37 2 166535715 166535715 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000314499.7:c.1210G>C p.Val404Leu p.V404L ENST00000314499 NM_001172173.1 404 Gtc/Ctc 0 Missense_Mutation G 48 CSRNP3 SNP 2 G C 166243961 166243961 Baylor CUX1 1523 hgsc.bcm.edu GRCh37 7 101843372 101843372 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000360264.3:c.2015G>T p.Arg672Leu p.R672L ENST00000360264 NM_001202543.1 672 cGa/cTa 0 Missense_Mutation G 37 CUX1 SNP 7 G T 101630092 101630092 Baylor CYFIP1 23191 hgsc.bcm.edu GRCh37 15 22928450 22928450 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000313077.7:c.327G>C p.Glu109Asp p.E109D ENST00000313077 NM_014608.2 109 gaG/gaC 0 Missense_Mutation G 33 CYFIP1 SNP 15 G C 20479891 20479891 Baylor DMTF1 9988 hgsc.bcm.edu GRCh37 7 86800370 86800370 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000394703.5:c.292G>A p.Asp98Asn p.D98N ENST00000394703 NM_021145.3 98 Gat/Aat 0 Missense_Mutation G 45 DMTF1 SNP 7 G A 86638306 86638306 Baylor EIF4A2 1974 hgsc.bcm.edu GRCh37 3 186501407 186501407 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000323963.5:c.8G>T p.Gly3Val p.G3V ENST00000323963 3 gGt/gTt 0 Missense_Mutation G 44 EIF4A2 SNP 3 G T 187984101 187984101 Baylor EXOC2 55770 hgsc.bcm.edu GRCh37 6 637784 637802 + frameshift_variant Frame_Shift_Del DEL CCGGTCACAAGGGGGGGTT CCGGTCACAAGGGGGGGTT - novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 CCGGTCACAAGGGGGGGTT CCGGTCACAAGGGGGGGTT . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000230449.4:c.17_35del p.Gln6ProfsTer28 p.Q6Pfs*28 ENST00000230449 NM_018303.5 6 cAACCCCCCCTTGTGACCGGc/cc 0 Frame_Shift_Del CCGGTCACAAGGGGGGGTT 26 EXOC2 DEL 6 CCGGTCACAAGGGGGGGTT - 582802 582784 Baylor FAM129A 116496 hgsc.bcm.edu GRCh37 1 184792833 184792833 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367511.3:c.761A>C p.Gln254Pro p.Q254P ENST00000367511 NM_052966.3 254 cAg/cCg 0 Missense_Mutation T 55 FAM129A SNP 1 T G 183059456 183059456 Baylor FAM71B 153745 hgsc.bcm.edu GRCh37 5 156589770 156589770 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000302938.4:c.1506C>T p.His502= p.H502= ENST00000302938 NM_130899.2 502 caC/caT 0 Silent G 48 FAM71B SNP 5 G A 156522348 156522348 Baylor GAB2 9846 hgsc.bcm.edu GRCh37 11 77937889 77937889 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361507.4:c.829C>T p.His277Tyr p.H277Y ENST00000361507 NM_080491.2 277 Cac/Tac 0 Missense_Mutation G 47 GAB2 SNP 11 G A 77615537 77615537 Baylor GPR113 165082 hgsc.bcm.edu GRCh37 2 26533949 26533949 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000311519.1:c.2647C>T p.Leu883Phe p.L883F ENST00000311519 NM_001145168.1 883 Ctc/Ttc 0 Missense_Mutation G 33 GPR113 SNP 2 G A 26387453 26387453 Baylor HFE2 148738 hgsc.bcm.edu GRCh37 1 145416401 145416401 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000336751.5:c.746A>G p.Asp249Gly p.D249G ENST00000336751 NM_213653.3 249 gAt/gGt 0 Missense_Mutation A 12 HFE2 SNP 1 A G 144127758 144127758 Baylor JAK2 3717 hgsc.bcm.edu GRCh37 9 5072586 5072586 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381652.3:c.1736T>C p.Leu579Pro p.L579P ENST00000381652 NM_004972.3 579 cTt/cCt 0 Missense_Mutation T 56 JAK2 SNP 9 T C 5062586 5062586 Baylor LAIR2 3904 hgsc.bcm.edu GRCh37 19 55019332 55019332 + synonymous_variant Silent SNP T T C novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000301202.2:c.297T>C p.Tyr99= p.Y99= ENST00000301202 NM_002288.4 99 taT/taC 0 Silent T 50 LAIR2 SNP 19 T C 59711144 59711144 Baylor MAK16 84549 hgsc.bcm.edu GRCh37 8 33353079 33353079 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000360128.6:c.467C>T p.Ala156Val p.A156V ENST00000360128 NM_032509.3 156 gCt/gTt 0 Missense_Mutation C 28 MAK16 SNP 8 C T 33472621 33472621 Baylor MOXD1 26002 hgsc.bcm.edu GRCh37 6 132618425 132618425 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367963.3:c.1709T>C p.Ile570Thr p.I570T ENST00000367963 NM_015529.2 570 aTa/aCa 0 Missense_Mutation A 16 MOXD1 SNP 6 A G 132660118 132660118 Baylor MYCN 4613 hgsc.bcm.edu GRCh37 2 16082408 16082408 + synonymous_variant Silent SNP C C G novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000281043.3:c.222C>G p.Pro74= p.P74= ENST00000281043 NM_005378.4 74 ccC/ccG 0 Silent C 22 MYCN SNP 2 C G 15999859 15999859 Baylor MYH11 4629 hgsc.bcm.edu GRCh37 16 15869985 15869985 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000396324.3:c.860C>G p.Thr287Arg p.T287R ENST00000396324 NM_001040114.1 287 aCa/aGa 0 Missense_Mutation G 48 MYH11 SNP 16 G C 15777486 15777486 Baylor NCKAP1L 3071 hgsc.bcm.edu GRCh37 12 54893248 54893248 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000293373.6:c.212C>T p.Thr71Met p.T71M ENST00000293373 NM_005337.4 71 aCg/aTg 0 Missense_Mutation C 19 NCKAP1L SNP 12 C T 53179515 53179515 Baylor PCSK1 5122 hgsc.bcm.edu GRCh37 5 95761604 95761604 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000311106.3:c.316G>C p.Glu106Gln p.E106Q ENST00000311106 NM_000439.4 106 Gaa/Caa 0 Missense_Mutation C 32 PCSK1 SNP 5 C G 95787360 95787360 Baylor PTCHD1 139411 hgsc.bcm.edu GRCh37 X 23397858 23397858 + synonymous_variant Silent SNP C C A novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379361.4:c.502C>A p.Arg168= p.R168= ENST00000379361 NM_173495.2 168 Cgg/Agg 0 Silent C 31 PTCHD1 SNP 23 C A 23307779 23307779 Baylor RBPJ 3516 hgsc.bcm.edu GRCh37 4 26432338 26432338 + synonymous_variant Silent SNP C C T rs1064380 Unknown TCGA-36-1568-01 TCGA-36-1568-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000342295.1:c.1212C>T p.Val404= p.V404= ENST00000342295 NM_005349.3 404 gtC/gtT 0 Silent C 31 RBPJ SNP 4 C T 26041436 26041436 Baylor RNASEL 6041 hgsc.bcm.edu GRCh37 1 182555816 182555816 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367559.3:c.126del p.Gln42HisfsTer28 p.Q42Hfs*28 ENST00000367559 NM_021133.3 42 caG/ca 0 Frame_Shift_Del C 28 RNASEL DEL 1 C - 180822439 180822439 Baylor RNF213 57674 hgsc.bcm.edu GRCh37 17 78320334 78320334 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000582970.1:c.8199G>A p.Leu2733= p.L2733= ENST00000582970 NM_001256071.1 2733 ctG/ctA 0 Silent G 47 RNF213 SNP 17 G A 75934929 75934929 Baylor SEMA4A 64218 hgsc.bcm.edu GRCh37 1 156131281 156131281 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368285.3:c.955C>T p.His319Tyr p.H319Y ENST00000368285 NM_001193300.1 319 Cac/Tac 0 Missense_Mutation C 21 SEMA4A SNP 1 C T 154397905 154397905 Baylor SNX8 29886 hgsc.bcm.edu GRCh37 7 2311586 2311586 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000222990.3:c.439G>T p.Ala147Ser p.A147S ENST00000222990 NM_013321.2 147 Gcc/Tcc 0 Missense_Mutation C 26 SNX8 SNP 7 C A 2278112 2278112 Baylor SPOP 8405 hgsc.bcm.edu GRCh37 17 47684704 47684704 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000347630.2:c.745G>T p.Glu249Ter p.E249* ENST00000347630 NM_001007230.1 249 Gaa/Taa 0 Nonsense_Mutation C 29 SPOP SNP 17 C A 45039703 45039703 Baylor ST18 9705 hgsc.bcm.edu GRCh37 8 53025885 53025885 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000276480.7:c.3017A>T p.Glu1006Val p.E1006V ENST00000276480 NM_014682.2 1006 gAg/gTg 0 Missense_Mutation T 54 ST18 SNP 8 T A 53188438 53188438 Baylor TEX11 56159 hgsc.bcm.edu GRCh37 X 69945170 69945170 + synonymous_variant Silent SNP A A G novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000395889.2:c.912T>C p.Leu304= p.L304= ENST00000395889 NM_001003811.1 304 ctT/ctC 0 Silent A 1 TEX11 SNP 23 A G 69861895 69861895 Baylor TLR8 51311 hgsc.bcm.edu GRCh37 X 12939056 12939056 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000218032.6:c.1897T>A p.Ser633Thr p.S633T ENST00000218032 NM_138636.4 633 Tcc/Acc 0 Missense_Mutation T 54 TLR8 SNP 23 T A 12848977 12848977 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577548 7577548 + missense_variant Missense_Mutation SNP C C T rs28934575 Unknown TCGA-36-1568-01 TCGA-36-1568-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.733G>A p.Gly245Ser p.G245S ENST00000269305 NM_001126112.2 245 Ggc/Agc 0 Missense_Mutation C 23 TP53 SNP 17 C T 7518273 7518273 Baylor UNG 7374 hgsc.bcm.edu GRCh37 12 109536217 109536217 + intron_variant Intron SNP T T C novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000242576.2:c.133-20T>C *45* ENST00000242576 NM_080911.2 0 Missense_Mutation T 54 UNG SNP 12 T C 108020600 108020600 Baylor ZC3H13 23091 hgsc.bcm.edu GRCh37 13 46619619 46619619 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1568-01 TCGA-36-1568-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000282007.3:c.24C>T p.Val8= p.V8= ENST00000282007 NM_015070.3 8 gtC/gtT 0 Silent G 45 ZC3H13 SNP 13 G A 45517620 45517620 Baylor ECE1 1889 broad.mit.edu GRCh37 1 21546500 21546500 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000374893.6:c.2261G>A p.Arg754His p.R754H ENST00000374893 NM_001397.2 754 cGc/cAc 0 Missense_Mutation C 27 ECE1 SNP 1 C T 21419087 21419087 Broad KIAA1522 57648 broad.mit.edu GRCh37 1 33236215 33236215 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000401073.2:c.1435C>T p.Arg479Trp p.R479W ENST00000401073 NM_020888.2 479 Cgg/Tgg 0 Missense_Mutation C 31 KIAA1522 SNP 1 C T 33008802 33008802 Broad HIVEP3 59269 broad.mit.edu GRCh37 1 42049046 42049046 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000372583.1:c.1423G>A p.Val475Met p.V475M ENST00000372583 NM_024503.4 475 Gtg/Atg 0 Missense_Mutation C 19 HIVEP3 SNP 1 C T 41821633 41821633 Broad PDE4DIP 9659 broad.mit.edu GRCh37 1 144994657 144994657 + synonymous_variant Silent SNP G G A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369356.4:c.75C>T p.Arg25= p.R25= ENST00000369356 NM_014644.5 25 cgC/cgT 0 Silent G 46 PDE4DIP SNP 1 G A 143706014 143706014 Broad BCAN 63827 broad.mit.edu GRCh37 1 156616813 156616813 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000329117.5:c.312C>G p.Tyr104Ter p.Y104* ENST00000329117 NM_021948.4 104 taC/taG 0 Nonsense_Mutation C 18 BCAN SNP 1 C G 154883437 154883437 Broad INSRR 3645 broad.mit.edu GRCh37 1 156821464 156821464 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000368195.3:c.1058G>A p.Ser353Asn p.S353N ENST00000368195 NM_014215.2 353 aGc/aAc 0 Missense_Mutation C 28 INSRR SNP 1 C T 155088088 155088088 Broad USH2A 7399 broad.mit.edu GRCh37 1 216595264 216595264 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000307340.3:c.415C>A p.Pro139Thr p.P139T ENST00000307340 NM_206933.2 139 Cct/Act 0 Missense_Mutation G 41 USH2A SNP 1 G T 214661887 214661887 Broad WNT9A 7483 broad.mit.edu GRCh37 1 228109527 228109527 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000272164.5:c.790G>A p.Ala264Thr p.A264T ENST00000272164 NM_003395.2 264 Gca/Aca 0 Missense_Mutation C 26 WNT9A SNP 1 C T 226176150 226176150 Broad ITIH2 3698 broad.mit.edu GRCh37 10 7751080 7751080 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000358415.4:c.288C>A p.Asn96Lys p.N96K ENST00000358415 NM_002216.2 96 aaC/aaA 0 Missense_Mutation C 17 ITIH2 SNP 10 C A 7791086 7791086 Broad CTNNA3 29119 broad.mit.edu GRCh37 10 68940233 68940233 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000433211.2:c.889C>T p.Arg297Ter p.R297* ENST00000433211 NM_013266.2 297 Cga/Tga 0 Nonsense_Mutation G 40 CTNNA3 SNP 10 G A 68610239 68610239 Broad KIF20B 9585 broad.mit.edu GRCh37 10 91479226 91479226 + synonymous_variant Silent SNP T T C novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000260753.4:c.1485T>C p.Pro495= p.P495= ENST00000260753 NM_016195.2 495 ccT/ccC 0 Silent T 55 KIF20B SNP 10 T C 91469206 91469206 Broad ARHGAP19 84986 broad.mit.edu GRCh37 10 99052333 99052333 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000358531.4:c.52C>T p.Arg18Trp p.R18W ENST00000358531 NM_001204300.1 18 Cgg/Tgg 0 Missense_Mutation G 39 ARHGAP19 SNP 10 G A 99042323 99042323 Broad CARS 833 broad.mit.edu GRCh37 11 3028132 3028132 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000380525.4:c.2126G>T p.Gly709Val p.G709V ENST00000380525 NM_001194997.1 709 gGg/gTg 0 Missense_Mutation C 22 CARS SNP 11 C A 2984708 2984708 Broad KIAA1549L 25758 broad.mit.edu GRCh37 11 33564032 33564032 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000321505.4:c.32A>T p.Asp11Val p.D11V ENST00000321505 11 gAt/gTt 0 Missense_Mutation A 12 C11orf41 SNP 11 A T 33520608 33520608 Broad OR4X1 390113 broad.mit.edu GRCh37 11 48285590 48285590 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000320048.1:c.178T>G p.Phe60Val p.F60V ENST00000320048 NM_001004726.1 60 Ttt/Gtt 0 Missense_Mutation T 56 OR4X1 SNP 11 T G 48242166 48242166 Broad LRRC55 219527 broad.mit.edu GRCh37 11 56949766 56949766 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000497933.1:c.399G>T p.Glu133Asp p.E133D ENST00000497933 NM_001005210.2 133 gaG/gaT 0 Missense_Mutation G 34 LRRC55 SNP 11 G T 56706342 56706342 Broad MMP13 4322 broad.mit.edu GRCh37 11 102826347 102826347 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000260302.3:c.88G>A p.Asp30Asn p.D30N ENST00000260302 NM_002427.3 30 Gat/Aat 0 Missense_Mutation C 29 MMP13 SNP 11 C T 102331557 102331557 Broad TECTA 7007 broad.mit.edu GRCh37 11 121028627 121028627 + synonymous_variant Silent SNP G G A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000392793.1:c.4383G>A p.Pro1461= p.P1461= ENST00000392793 1461 ccG/ccA 0 Silent G 38 TECTA SNP 11 G A 120533837 120533837 Broad ARHGAP32 9743 broad.mit.edu GRCh37 11 128993408 128993408 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000310343.9:c.335G>C p.Gly112Ala p.G112A ENST00000310343 NM_001142685.1 112 gGt/gCt 0 Missense_Mutation C 18 ARHGAP32 SNP 11 C G 128498618 128498618 Broad SLCO1B3 28234 broad.mit.edu GRCh37 12 21054396 21054396 + synonymous_variant Silent SNP T T C novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000381545.3:c.1860T>C p.Phe620= p.F620= ENST00000381545 NM_019844.3 620 ttT/ttC 0 Silent T 64 SLCO1B3 SNP 12 T C 20945663 20945663 Broad CCDC65 85478 broad.mit.edu GRCh37 12 49315215 49315215 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000320516.4:c.1444C>G p.Pro482Ala p.P482A ENST00000320516 NM_033124.4 482 Cca/Gca 0 Missense_Mutation C 30 CCDC65 SNP 12 C G 47601482 47601482 Broad SRGAP1 57522 broad.mit.edu GRCh37 12 64521913 64521913 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000355086.3:c.2813C>G p.Ser938Cys p.S938C ENST00000355086 NM_020762.2 938 tCc/tGc 0 Missense_Mutation C 30 SRGAP1 SNP 12 C G 62808180 62808180 Broad WIF1 11197 broad.mit.edu GRCh37 12 65514196 65514196 + splice_donor_variant Splice_Site SNP C C G novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000286574.4:c.288+1G>C p.X96_splice ENST00000286574 NM_007191.4 0 Splice_Site_SNP C 18 WIF1 SNP 12 C G 63800463 63800463 Broad BTBD11 121551 broad.mit.edu GRCh37 12 108012027 108012027 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000280758.5:c.2324C>T p.Ala775Val p.A775V ENST00000280758 NM_001018072.1 775 gCg/gTg 0 Missense_Mutation C 27 BTBD11 SNP 12 C T 106536157 106536157 Broad COQ5 84274 broad.mit.edu GRCh37 12 120941829 120941829 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000288532.6:c.826G>T p.Gly276Ter p.G276* ENST00000288532 NM_032314.3 276 Gga/Tga 0 Nonsense_Mutation C 21 COQ5 SNP 12 C A 119426212 119426212 Broad TMEM132B 114795 broad.mit.edu GRCh37 12 126135286 126135286 + synonymous_variant Silent SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000299308.3:c.1686C>T p.Ser562= p.S562= ENST00000299308 NM_052907.2 562 tcC/tcT 0 Silent C 22 TMEM132B SNP 12 C T 124701239 124701239 Broad N4BP2L1 90634 broad.mit.edu GRCh37 13 32978397 32978397 + intron_variant Intron SNP G G A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000380130.2:c.473+61C>T *158* ENST00000380130 NM_052818.2 0 Silent G 39 N4BP2L1 SNP 13 G A 31876397 31876397 Broad FREM2 341640 broad.mit.edu GRCh37 13 39453024 39453024 + synonymous_variant Silent SNP C C A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000280481.7:c.8916C>A p.Ala2972= p.A2972= ENST00000280481 NM_207361.4 2972 gcC/gcA 0 Silent C 21 FREM2 SNP 13 C A 38351024 38351024 Broad RNASE9 390443 broad.mit.edu GRCh37 14 21024769 21024769 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000404716.3:c.475A>C p.Lys159Gln p.K159Q ENST00000404716 NM_001110359.1 159 Aaa/Caa 0 Missense_Mutation T 61 RNASE9 SNP 14 T G 20094609 20094609 Broad SPG11 80208 broad.mit.edu GRCh37 15 44921512 44921512 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000261866.7:c.1810A>C p.Lys604Gln p.K604Q ENST00000261866 NM_025137.3 604 Aaa/Caa 0 Missense_Mutation T 63 SPG11 SNP 15 T G 42708804 42708804 Broad RORA 6095 broad.mit.edu GRCh37 15 60919532 60919532 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000261523.5:c.42G>T p.Glu14Asp p.E14D ENST00000261523 NM_134260.2 14 gaG/gaT 0 Missense_Mutation C 24 RORA SNP 15 C A 58706824 58706824 Broad CDK10 8558 broad.mit.edu GRCh37 16 89758909 89758909 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000353379.7:c.470A>G p.Asn157Ser p.N157S ENST00000353379 NM_052988.4 157 aAc/aGc 0 Missense_Mutation A 2 CDK10 SNP 16 A G 88286410 88286410 Broad TP53 7157 broad.mit.edu GRCh37 17 7578500 7578500 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.430C>T p.Gln144Ter p.Q144* ENST00000269305 NM_001126112.2 144 Cag/Tag 0 Nonsense_Mutation G 46 TP53 SNP 17 G A 7519225 7519225 Broad SPIRE1 56907 broad.mit.edu GRCh37 18 12464875 12464875 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000409402.4:c.1487C>T p.Thr496Ile p.T496I ENST00000409402 NM_001128626.1 496 aCa/aTa 0 Missense_Mutation G 48 SPIRE1 SNP 18 G A 12454875 12454875 Broad KIAA1468 57614 broad.mit.edu GRCh37 18 59894635 59894635 + synonymous_variant Silent SNP G G T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000398130.2:c.972G>T p.Val324= p.V324= ENST00000398130 NM_020854.3 324 gtG/gtT 0 Silent G 47 KIAA1468 SNP 18 G T 58045615 58045615 Broad ZNF236 7776 broad.mit.edu GRCh37 18 74563797 74563797 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000253159.8:c.259A>C p.Thr87Pro p.T87P ENST00000253159 NM_007345.3 87 Acc/Ccc 0 Missense_Mutation A 6 ZNF236 SNP 18 A C 72692785 72692785 Broad BST2 684 broad.mit.edu GRCh37 19 17516280 17516280 + synonymous_variant Silent SNP C C G novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000252593.6:c.105G>C p.Val35= p.V35= ENST00000252593 NM_004335.2 35 gtG/gtC 0 Silent C 29 BST2 SNP 19 C G 17377280 17377280 Broad NCCRP1 342897 broad.mit.edu GRCh37 19 39689812 39689812 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000339852.4:c.455G>C p.Trp152Ser p.W152S ENST00000339852 NM_001001414.1 152 tGg/tCg 0 Missense_Mutation G 47 NCCRP1 SNP 19 G C 44381652 44381652 Broad CYP2A13 1553 broad.mit.edu GRCh37 19 41594876 41594876 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000330436.3:c.223C>T p.Pro75Ser p.P75S ENST00000330436 NM_000766.4 75 Ccc/Tcc 0 Missense_Mutation C 26 CYP2A13 SNP 19 C T 46286716 46286716 Broad LMTK3 114783 broad.mit.edu GRCh37 19 48994368 48994368 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000270238.3:c.4450G>T p.Ala1484Ser p.A1484S ENST00000270238 NM_001080434.1 1484 Gca/Tca 0 Missense_Mutation C 27 LMTK3 SNP 19 C A 53686180 53686180 Broad DPYSL5 56896 broad.mit.edu GRCh37 2 27165477 27165477 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000288699.6:c.1299C>G p.His433Gln p.H433Q ENST00000288699 NM_001253724.1 433 caC/caG 0 Missense_Mutation C 19 DPYSL5 SNP 2 C G 27018981 27018981 Broad SPDYA 245711 broad.mit.edu GRCh37 2 29039006 29039006 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000334056.5:c.126T>G p.Asn42Lys p.N42K ENST00000334056 NM_182756.3 42 aaT/aaG 0 Missense_Mutation T 52 SPDYA SNP 2 T G 28892510 28892510 Broad EPAS1 2034 broad.mit.edu GRCh37 2 46611660 46611661 + missense_variant Missense_Mutation DNP GG GG CC novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000263734.3:c.2474_2475inv p.Arg825Pro p.R825P ENST00000263734 NM_001430.4 825 cGG/cCC 0 Missense_Mutation GG 39 EPAS1 DNP 2 GG CC 46465165 46465164 Broad FAHD2A 51011 broad.mit.edu GRCh37 2 96076301 96076301 + synonymous_variant Silent SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000233379.4:c.489C>T p.Ala163= p.A163= ENST00000233379 NM_016044.2 163 gcC/gcT 0 Silent C 23 FAHD2A SNP 2 C T 95440028 95440028 Broad LCT 3938 broad.mit.edu GRCh37 2 136567188 136567188 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264162.2:c.2729G>T p.Gly910Val p.G910V ENST00000264162 NM_002299.2 910 gGc/gTc 0 Missense_Mutation C 26 LCT SNP 2 C A 136283658 136283658 Broad ITGAV 3685 broad.mit.edu GRCh37 2 187506195 187506195 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000261023.3:c.1039G>C p.Val347Leu p.V347L ENST00000261023 NM_002210.4 347 Gtg/Ctg 0 Missense_Mutation G 36 ITGAV SNP 2 G C 187214440 187214440 Broad CDK5RAP1 51654 broad.mit.edu GRCh37 20 31979987 31979987 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000346416.2:c.505C>T p.Arg169Trp p.R169W ENST00000346416 NM_001278169.1 169 Cgg/Tgg 0 Missense_Mutation G 38 CDK5RAP1 SNP 20 G A 31443648 31443648 Broad LPIN3 64900 broad.mit.edu GRCh37 20 39987135 39987135 + synonymous_variant Silent SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000373257.3:c.2364C>T p.Asn788= p.N788= ENST00000373257 NM_022896.1 788 aaC/aaT 0 Silent C 18 LPIN3 SNP 20 C T 39420549 39420549 Broad SLC2A10 81031 broad.mit.edu GRCh37 20 45354908 45354908 + synonymous_variant Silent SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000359271.2:c.1233C>T p.Thr411= p.T411= ENST00000359271 NM_030777.3 411 acC/acT 0 Silent C 23 SLC2A10 SNP 20 C T 44788315 44788315 Broad KRTAP26-1 388818 broad.mit.edu GRCh37 21 31691839 31691839 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000360542.3:c.515G>A p.Arg172His p.R172H ENST00000360542 NM_203405.1 172 cGt/cAt 0 Missense_Mutation C 19 KRTAP26-1 SNP 21 C T 30613710 30613710 Broad COL6A2 1292 broad.mit.edu GRCh37 21 47552203 47552203 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000300527.4:c.2797C>T p.Arg933Cys p.R933C ENST00000300527 NM_001849.3 933 Cgt/Tgt 0 Missense_Mutation C 27 COL6A2 SNP 21 C T 46376631 46376631 Broad OGG1 4968 broad.mit.edu GRCh37 3 9807658 9807658 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000302036.7:c.1114G>C p.Asp372His p.D372H ENST00000302036 NM_016821.2 372 Gac/Cac 0 Missense_Mutation G 45 OGG1 SNP 3 G C 9782658 9782658 Broad DOCK3 1795 broad.mit.edu GRCh37 3 51127673 51127673 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000266037.9:c.604C>T p.Arg202Cys p.R202C ENST00000266037 NM_004947.4 202 Cgc/Tgc 0 Missense_Mutation C 27 DOCK3 SNP 3 C T 51102713 51102713 Broad PTPRG 5793 broad.mit.edu GRCh37 3 62189104 62189104 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000474889.1:c.1635C>G p.Ser545Arg p.S545R ENST00000474889 NM_002841.3 545 agC/agG 0 Missense_Mutation C 25 PTPRG SNP 3 C G 62164144 62164144 Broad UBA3 9039 broad.mit.edu GRCh37 3 69111278 69111278 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000361055.4:c.746G>A p.Cys249Tyr p.C249Y ENST00000361055 NM_003968.3 249 tGt/tAt 0 Missense_Mutation C 17 UBA3 SNP 3 C T 69193968 69193968 Broad ZBTB38 253461 broad.mit.edu GRCh37 3 141163991 141163991 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000514251.1:c.2761A>G p.Asn921Asp p.N921D ENST00000514251 921 Aac/Gac 0 Missense_Mutation A 5 ZBTB38 SNP 3 A G 142646681 142646681 Broad EIF2A 83939 broad.mit.edu GRCh37 3 150289799 150289799 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000460851.1:c.866G>T p.Cys289Phe p.C289F ENST00000460851 289 tGt/tTt 0 Missense_Mutation G 48 EIF2A SNP 3 G T 151772489 151772489 Broad MUC4 4585 broad.mit.edu GRCh37 3 195498568 195498568 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000463781.3:c.13197G>C p.Trp4399Cys p.W4399C ENST00000463781 NM_018406.6 4399 tgG/tgC 0 Missense_Mutation C 22 MUC4 SNP 3 C G 196984202 196984202 Broad DNAH5 1767 broad.mit.edu GRCh37 5 13770874 13770874 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000265104.4:c.9589C>T p.Arg3197Trp p.R3197W ENST00000265104 NM_001369.2 3197 Cgg/Tgg 0 Missense_Mutation G 38 DNAH5 SNP 5 G A 13823874 13823874 Broad MSH3 4437 broad.mit.edu GRCh37 5 79968144 79968144 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265081.6:c.874G>C p.Val292Leu p.V292L ENST00000265081 NM_002439.4 292 Gtt/Ctt 0 Missense_Mutation G 48 MSH3 SNP 5 G C 80003900 80003900 Broad FBN2 2201 broad.mit.edu GRCh37 5 127624902 127624902 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000508053.1:c.6554G>A p.Gly2185Asp p.G2185D ENST00000508053 2185 gGt/gAt 0 Missense_Mutation C 18 FBN2 SNP 5 C T 127652801 127652801 Broad GPX6 257202 broad.mit.edu GRCh37 6 28483444 28483444 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 T G T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000361902.1:c.77A>C p.Gln26Pro p.Q26P ENST00000361902 NM_182701.1 26 cAa/cCa 0 Missense_Mutation T 63 GPX6 SNP 6 T G 28591423 28591423 Broad MSH5 4439 broad.mit.edu GRCh37 6 31727879 31727879 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000375703.3:c.1698G>T p.Met566Ile p.M566I ENST00000375703 566 atG/atT 0 Missense_Mutation G 47 MSH5 SNP 6 G T 31835858 31835858 Broad PRPH2 5961 broad.mit.edu GRCh37 6 42689522 42689522 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000230381.5:c.551A>G p.Tyr184Cys p.Y184C ENST00000230381 NM_000322.4 184 tAc/tGc 0 Missense_Mutation T 57 PRPH2 SNP 6 T C 42797500 42797500 Broad TIAM2 26230 broad.mit.edu GRCh37 6 155566795 155566795 + synonymous_variant Silent SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000461783.3:c.3582C>T p.Tyr1194= p.Y1194= ENST00000461783 1194 taC/taT 0 Silent C 19 TIAM2 SNP 6 C T 155608487 155608487 Broad POLD2 5425 broad.mit.edu GRCh37 7 44161501 44161501 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000406581.2:c.152C>G p.Ala51Gly p.A51G ENST00000406581 NM_001256879.1 51 gCc/gGc 0 Missense_Mutation G 42 POLD2 SNP 7 G C 44128026 44128026 Broad ZNF479 90827 broad.mit.edu GRCh37 7 57194380 57194380 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000331162.4:c.85G>A p.Glu29Lys p.E29K ENST00000331162 NM_033273.1 29 Gaa/Aaa 0 Missense_Mutation C 30 ZNF479 SNP 7 C T 57198322 57198322 Broad AKR1D1 6718 broad.mit.edu GRCh37 7 137761327 137761327 + synonymous_variant Silent SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000242375.3:c.63C>T p.Ile21= p.I21= ENST00000242375 NM_005989.3 21 atC/atT 0 Silent C 31 AKR1D1 SNP 7 C T 137411867 137411867 Broad MGAM 8972 broad.mit.edu GRCh37 7 141764312 141764312 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000549489.2:c.4474C>A p.Pro1492Thr p.P1492T ENST00000549489 NM_004668.2 1492 Ccc/Acc 0 Missense_Mutation C 18 MGAM SNP 7 C A 141410781 141410781 Broad RALYL 138046 broad.mit.edu GRCh37 8 85686876 85686876 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000517638.1:c.358T>C p.Ser120Pro p.S120P ENST00000517638 NM_001100391.1 120 Tct/Cct 0 Missense_Mutation T 62 RALYL SNP 8 T C 85849431 85849431 Broad CPNE3 8895 broad.mit.edu GRCh37 8 87560532 87560532 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000521271.1:c.883G>A p.Gly295Arg p.G295R ENST00000521271 NM_003909.3 295 Gga/Aga 0 Missense_Mutation G 43 CPNE3 SNP 8 G A 87629648 87629648 Broad DOCK8 81704 broad.mit.edu GRCh37 9 463545 463545 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000453981.1:c.6097C>T p.Arg2033Cys p.R2033C ENST00000453981 2033 Cgt/Tgt 0 Missense_Mutation C 27 DOCK8 SNP 9 C T 453545 453545 Broad LINGO2 158038 broad.mit.edu GRCh37 9 27950233 27950233 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000379992.2:c.437A>G p.Asp146Gly p.D146G ENST00000379992 NM_152570.2 146 gAc/gGc 0 Missense_Mutation T 58 LINGO2 SNP 9 T C 27940233 27940233 Broad FANCG 2189 broad.mit.edu GRCh37 9 35075483 35075483 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000378643.3:c.1412T>A p.Val471Glu p.V471E ENST00000378643 NM_004629.1 471 gTg/gAg 0 Missense_Mutation A 6 FANCG SNP 9 A T 35065483 35065483 Broad CTSL 1514 broad.mit.edu GRCh37 9 90342624 90342624 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000343150.5:c.106C>T p.His36Tyr p.H36Y ENST00000343150 36 Cac/Tac 0 Missense_Mutation C 25 CTSL1 SNP 9 C T 89532444 89532444 Broad CERCAM 51148 broad.mit.edu GRCh37 9 131197995 131197995 + synonymous_variant Silent SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000372838.4:c.1599C>T p.Leu533= p.L533= ENST00000372838 NM_016174.4 533 ctC/ctT 0 Silent C 31 CERCAM SNP 9 C T 130237816 130237816 Broad NOTCH1 4851 broad.mit.edu GRCh37 9 139410479 139410479 + synonymous_variant Silent SNP G G T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000277541.6:c.1623C>A p.Ala541= p.A541= ENST00000277541 NM_017617.3 541 gcC/gcA 0 Silent G 47 NOTCH1 SNP 9 G T 138530300 138530300 Broad MAGEB6 158809 broad.mit.edu GRCh37 X 26212100 26212100 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000379034.1:c.137G>A p.Arg46His p.R46H ENST00000379034 NM_173523.2 46 cGc/cAc 0 Missense_Mutation G 38 MAGEB6 SNP 23 G A 26122021 26122021 Broad GDPD2 54857 broad.mit.edu GRCh37 X 69647002 69647002 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000453994.2:c.718A>C p.Thr240Pro p.T240P ENST00000453994 NM_001171192.1 240 Acc/Ccc 0 Missense_Mutation A 6 GDPD2 SNP 23 A C 69563727 69563727 Broad CLDN2 9075 broad.mit.edu GRCh37 X 106171625 106171625 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000541806.1:c.167C>A p.Thr56Lys p.T56K ENST00000541806 NM_001171092.1 56 aCa/aAa 0 Missense_Mutation C 17 CLDN2 SNP 23 C A 106058281 106058281 Broad STAG2 10735 broad.mit.edu GRCh37 X 123179101 123179101 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000218089.9:c.550C>T p.Arg184Trp p.R184W ENST00000218089 NM_001042749.1 184 Cgg/Tgg 0 Missense_Mutation C 19 STAG2 SNP 23 C T 123006782 123006782 Broad UTP14A 10813 broad.mit.edu GRCh37 X 129054485 129054485 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 Unknown Unknown Unknown x x x ENST00000394422.3:c.805G>T p.Glu269Ter p.E269* ENST00000394422 NM_006649.3 269 Gag/Tag 0 Nonsense_Mutation G 45 UTP14A SNP 23 G T 128882166 128882166 Broad L1CAM 3897 broad.mit.edu GRCh37 X 153129914 153129914 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0990-01 TCGA-20-0990-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000370060.1:c.3185C>T p.Ser1062Phe p.S1062F ENST00000370060 NM_001278116.1 1062 tCc/tTc 0 Missense_Mutation G 41 L1CAM SNP 23 G A 152783108 152783108 Broad GABRD 2563 broad.mit.edu GRCh37 1 1961652 1961652 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000378585.4:c.1290C>T p.Tyr430= p.Y430= ENST00000378585 NM_000815.4 430 taC/taT 0 Silent C 19 GABRD SNP 1 C T 1951512 1951512 Broad PTPRF 5792 broad.mit.edu GRCh37 1 44044559 44044559 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000359947.4:c.647G>A p.Arg216His p.R216H ENST00000359947 NM_002840.3 216 cGt/cAt 0 Missense_Mutation G 40 PTPRF SNP 1 G A 43817146 43817146 Broad GBA 2629 broad.mit.edu GRCh37 1 155207162 155207162 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000327247.5:c.969A>G p.Gln323= p.Q323= ENST00000327247 NM_001005742.2 323 caA/caG 0 Silent T 60 GBA SNP 1 T C 153473786 153473786 Broad RET 5979 broad.mit.edu GRCh37 10 43619215 43619215 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000355710.3:c.2898C>T p.Thr966= p.T966= ENST00000355710 NM_020975.4 966 acC/acT 0 Silent C 23 RET SNP 10 C T 42939221 42939221 Broad OR52B6 340980 broad.mit.edu GRCh37 11 5603050 5603050 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000345043.2:c.944G>T p.Arg315Met p.R315M ENST00000345043 NM_001005162.2 315 aGg/aTg 0 Missense_Mutation G 35 OR52B6 SNP 11 G T 5559626 5559626 Broad SYT7 9066 broad.mit.edu GRCh37 11 61300523 61300523 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000540677.1:c.514C>T p.Arg172Trp p.R172W ENST00000540677 NM_001252065.1 172 Cgg/Tgg 0 Missense_Mutation G 39 SYT7 SNP 11 G A 61057099 61057099 Broad STX5 6811 broad.mit.edu GRCh37 11 62595064 62595064 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000294179.3:c.265C>T p.Arg89Ter p.R89* ENST00000294179 NM_001244666.1 89 Cga/Tga 0 Nonsense_Mutation G 39 STX5 SNP 11 G A 62351640 62351640 Broad SHANK2 22941 broad.mit.edu GRCh37 11 70348920 70348920 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000338508.4:c.2181C>G p.Asp727Glu p.D727E ENST00000338508 727 gaC/gaG 0 Missense_Mutation G 40 SHANK2 SNP 11 G C 70026568 70026568 Broad RNFT2 84900 broad.mit.edu GRCh37 12 117271726 117271726 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000257575.4:c.1012G>C p.Val338Leu p.V338L ENST00000257575 338 Gtt/Ctt 0 Missense_Mutation G 40 RNFT2 SNP 12 G C 115756109 115756109 Broad POTEG 404785 broad.mit.edu GRCh37 14 19553823 19553823 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000409832.3:c.407G>A p.Arg136His p.R136H ENST00000409832 NM_001005356.2 136 cGt/cAt 0 Missense_Mutation G 40 POTEG SNP 14 G A 18623823 18623823 Broad NRDE2 55051 broad.mit.edu GRCh37 14 90755479 90755479 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000354366.3:c.2240G>A p.Cys747Tyr p.C747Y ENST00000354366 NM_017970.3 747 tGc/tAc 0 Missense_Mutation C 25 C14orf102 SNP 14 C T 89825232 89825232 Broad INO80 54617 broad.mit.edu GRCh37 15 41384310 41384310 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000361937.3:c.452A>G p.Asn151Ser p.N151S ENST00000361937 151 aAt/aGt 0 Missense_Mutation T 52 INO80 SNP 15 T C 39171602 39171602 Broad C17orf97 400566 broad.mit.edu GRCh37 17 263021 263021 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000360127.6:c.387C>T p.Gly129= p.G129= ENST00000360127 NM_001013672.4 129 ggC/ggT 0 Silent C 26 C17orf97 SNP 17 C T 263337 263337 Broad MYO18A 399687 broad.mit.edu GRCh37 17 27437013 27437013 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000527372.1:c.3194G>C p.Arg1065Pro p.R1065P ENST00000527372 NM_078471.3 1065 cGa/cCa 0 Missense_Mutation C 31 MYO18A SNP 17 C G 24461139 24461139 Broad OR7G1 125962 broad.mit.edu GRCh37 19 9225745 9225745 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000541538.1:c.695G>C p.Arg232Thr p.R232T ENST00000541538 NM_001005192.2 232 aGa/aCa 0 Missense_Mutation C 32 OR7G1 SNP 19 C G 9086745 9086745 Broad ZNF208 7757 broad.mit.edu GRCh37 19 22155976 22155976 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000397126.4:c.1860G>T p.Lys620Asn p.K620N ENST00000397126 NM_007153.3 620 aaG/aaT 0 Missense_Mutation C 24 ZNF208 SNP 19 C A 21947816 21947816 Broad LRP3 4037 broad.mit.edu GRCh37 19 33696381 33696381 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000253193.7:c.705C>T p.Asp235= p.D235= ENST00000253193 NM_002333.3 235 gaC/gaT 0 Silent C 19 LRP3 SNP 19 C T 38388221 38388221 Broad DYRK1B 9149 broad.mit.edu GRCh37 19 40319198 40319198 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000593685.1:c.546C>T p.Phe182= p.F182= ENST00000593685 182 ttC/ttT 0 Silent G 41 DYRK1B SNP 19 G A 45011038 45011038 Broad DYRK1B 9149 broad.mit.edu GRCh37 19 40320646 40320646 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000593685.1:c.394C>G p.Gln132Glu p.Q132E ENST00000593685 132 Cag/Gag 0 Missense_Mutation G 45 DYRK1B SNP 19 G C 45012486 45012486 Broad ATP6V1A 523 broad.mit.edu GRCh37 3 113497630 113497630 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000273398.3:c.30C>G p.Leu10= p.L10= ENST00000273398 NM_001690.3 10 ctC/ctG 0 Silent C 31 ATP6V1A SNP 3 C G 114980320 114980320 Broad USO1 8615 broad.mit.edu GRCh37 4 76692047 76692047 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000538159.1:c.475G>T p.Val159Leu p.V159L ENST00000538159 159 Gtg/Ttg 0 Missense_Mutation G 44 USO1 SNP 4 G T 76911071 76911071 Broad PCDHGA3 56112 broad.mit.edu GRCh37 5 140778299 140778299 + intron_variant Intron SNP G G A novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000253812.6:c.2424+52275G>A *808* ENST00000253812 NM_018916.3 0 Missense_Mutation G 39 PCDHGB5 SNP 5 G A 140758483 140758483 Broad HIST1H2AE 3012 broad.mit.edu GRCh37 6 26217314 26217314 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000303910.2:c.112G>A p.Gly38Ser p.G38S ENST00000303910 NM_021052.2 38 Ggc/Agc 0 Missense_Mutation G 35 HIST1H2AE SNP 6 G A 26325293 26325293 Broad VWA7 80737 broad.mit.edu GRCh37 6 31736894 31736894 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000375688.4:c.1404C>G p.Tyr468Ter p.Y468* ENST00000375688 468 taC/taG 0 Nonsense_Mutation G 48 C6orf27 SNP 6 G C 31844873 31844873 Broad RBAK 57786 broad.mit.edu GRCh37 7 5097322 5097322 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 T G T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000396904.2:c.150T>G p.Asp50Glu p.D50E ENST00000396904 NM_001204513.1 50 gaT/gaG 0 Missense_Mutation T 49 RBAK SNP 7 T G 5063848 5063848 Broad HOXA10 3206 broad.mit.edu GRCh37 7 27213457 27213457 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000283921.4:c.469T>C p.Cys157Arg p.C157R ENST00000283921 NM_018951.3 157 Tgc/Cgc 0 Missense_Mutation A 6 HOXA10 SNP 7 A G 27179982 27179982 Broad POR 5447 broad.mit.edu GRCh37 7 75615678 75615678 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000461988.1:c.1922A>T p.Asp641Val p.D641V ENST00000461988 NM_000941.2 641 gAt/gTt 0 Missense_Mutation A 12 POR SNP 7 A T 75453614 75453614 Broad DLX6 1750 broad.mit.edu GRCh37 7 96639147 96639147 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000518156.2:c.670A>T p.Lys224Ter p.K224* ENST00000518156 224 Aaa/Taa 0 Nonsense_Mutation A 9 DLX6 SNP 7 A T 96477083 96477083 Broad PPP2R2A 5520 broad.mit.edu GRCh37 8 26227853 26227853 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000315985.7:c.1298C>T p.Ala433Val p.A433V ENST00000315985 NM_001177591.1 433 gCc/gTc 0 Missense_Mutation C 26 PPP2R2A SNP 8 C T 26283770 26283770 Broad FNTA 2339 broad.mit.edu GRCh37 8 42911646 42911646 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000302279.3:c.157G>T p.Asp53Tyr p.D53Y ENST00000302279 NM_002027.2 53 Gac/Tac 0 Missense_Mutation G 37 FNTA SNP 8 G T 43030803 43030803 Broad ST18 9705 broad.mit.edu GRCh37 8 53077785 53077785 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000276480.7:c.1205T>C p.Ile402Thr p.I402T ENST00000276480 NM_014682.2 402 aTt/aCt 0 Missense_Mutation A 2 ST18 SNP 8 A G 53240338 53240338 Broad DPY19L4 286148 broad.mit.edu GRCh37 8 95746894 95746894 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000414645.2:c.164G>A p.Gly55Asp p.G55D ENST00000414645 NM_181787.2 55 gGc/gAc 0 Missense_Mutation G 42 DPY19L4 SNP 8 G A 95816070 95816070 Broad COL22A1 169044 broad.mit.edu GRCh37 8 139618624 139618624 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000303045.6:c.4104G>A p.Pro1368= p.P1368= ENST00000303045 NM_152888.1 1368 ccG/ccA 0 Silent C 23 COL22A1 SNP 8 C T 139687806 139687806 Broad ELAVL2 1993 broad.mit.edu GRCh37 9 23692598 23692598 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000397312.2:c.1037T>A p.Val346Glu p.V346E ENST00000397312 NM_004432.3 346 gTa/gAa 0 Missense_Mutation A 14 ELAVL2 SNP 9 A T 23682598 23682598 Broad ZNF462 58499 broad.mit.edu GRCh37 9 109691199 109691199 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000277225.5:c.5006G>C p.Cys1669Ser p.C1669S ENST00000277225 1669 tGc/tCc 0 Missense_Mutation G 46 ZNF462 SNP 9 G C 108731020 108731020 Broad PTBP3 9991 broad.mit.edu GRCh37 9 114990699 114990699 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000458258.1:c.1210G>C p.Ala404Pro p.A404P ENST00000458258 NM_001244898.1 404 Gcc/Ccc 0 Missense_Mutation C 25 ROD1 SNP 9 C G 114030520 114030520 Broad SAGE1 55511 broad.mit.edu GRCh37 X 134992667 134992667 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown x x x ENST00000535938.1:c.1958G>A p.Arg653His p.R653H ENST00000535938 NM_018666.2 653 cGt/cAt 0 Missense_Mutation G 40 SAGE1 SNP 23 G A 134820333 134820333 Broad TP53 7157 broad.mit.edu GRCh37 17 7577105 7577105 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 G T G G Unknown Valid Somatic Phase_I Capture 454_PCR_WGA Illumina GAIIx ENST00000269305.4:c.833C>A p.Pro278His p.P278H ENST00000269305 NM_001126112.2 278 cCt/cAt 0 Missense_Mutation G 35 TP53 SNP 17 G T 7517830 7517830 Broad C2orf16 84226 broad.mit.edu GRCh37 2 27804559 27804582 + inframe_deletion In_Frame_Del DEL AGAGAAGACATCACAGTCCCTCTA AGAGAAGACATCACAGTCCCTCTA - novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000408964.2:c.5127_5150del p.Arg1709_Arg1716del p.R1709_R1716del ENST00000408964 NM_032266.3 1707 gAGAGAAGACATCACAGTCCCTCTAag/gag 0 In_Frame_Del AGAGAAGACATCACAGTCCCTCTA 11 C2orf16 DEL 2 - AGAGAAGACATCACAGTCCCTCTA 27658086 27658063 Broad BAIAP2L2 80115 broad.mit.edu GRCh37 22 38483174 38483175 + inframe_insertion In_Frame_Ins INS - - CATGGAGGT novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000381669.3:c.1207_1215dup p.Thr403_Met405dup p.T403_M405dup ENST00000381669 NM_025045.4 405 -/ACCTCCATG 0 In_Frame_Ins - 10 BAIAP2L2 INS 22 CATGGAGGT - 36813121 36813120 Broad BRD2 6046 broad.mit.edu GRCh37 6 32944598 32944599 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-24-1552-01 TCGA-24-1552-10 T - - - Unknown Valid Somatic Phase_I Capture Illumina GAIIx ENST00000395289.2:c.1086dup p.Lys363Ter p.K363* ENST00000395289 362 tct/tcTt 0 Frame_Shift_Ins - 32 BRD2 INS 6 T - 33052577 33052576 Broad WNK1 65125 genome.wustl.edu GRCh37 12 994022 994022 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315939.6:c.4052C>T p.Ala1351Val p.A1351V ENST00000315939 NM_018979.3 1351 gCa/gTa 0 Missense_Mutation C 25 WNK1 SNP 12 C T 864283 864283 WashU ITPR1 3708 genome.wustl.edu GRCh37 3 4816925 4816925 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302640.8:c.5935-1G>T p.X1979_splice ENST00000302640 NM_001168272.1 0 Splice_Site_SNP G 33 ITPR1 SNP 3 G T 4791925 4791925 WashU OR51T1 401665 genome.wustl.edu GRCh37 11 4903876 4903876 + synonymous_variant Silent SNP A A C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380378.1:c.828A>C p.Ala276= p.A276= ENST00000380378 NM_001004759.1 276 gcA/gcC 0 Silent A 7 OR51T1 SNP 11 A C 4860452 4860452 WashU VWF 7450 genome.wustl.edu GRCh37 12 6167145 6167145 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261405.5:c.1599C>T p.Asp533= p.D533= ENST00000261405 NM_000552.3 533 gaC/gaT 0 Silent G 40 VWF SNP 12 G A 6037406 6037406 WashU SYT9 143425 genome.wustl.edu GRCh37 11 7441836 7441836 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318881.6:c.1437G>A p.Lys479= p.K479= ENST00000318881 NM_175733.3 479 aaG/aaA 0 Silent G 34 SYT9 SNP 11 G A 7398412 7398412 WashU ARHGEF15 22899 genome.wustl.edu GRCh37 17 8215517 8215517 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000361926.3:c.160C>G p.Pro54Ala p.P54A ENST00000361926 NM_173728.3 54 Cca/Gca 0 Missense_Mutation C 18 ARHGEF15 SNP 17 C G 8156242 8156242 WashU MARCH2 51257 genome.wustl.edu GRCh37 19 8491561 8491561 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000602117.1:c.245G>C p.Cys82Ser p.C82S ENST00000602117 82 tGc/tCc 0 Missense_Mutation G 46 MARCH2 SNP 19 G C 8397561 8397561 WashU MRVI1 10335 genome.wustl.edu GRCh37 11 10651173 10651173 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000423302.2:c.486G>A p.Ala162= p.A162= ENST00000423302 NM_130385.3 162 gcG/gcA 0 Silent C 27 MRVI1 SNP 11 C T 10607749 10607749 WashU TARDBP 23435 genome.wustl.edu GRCh37 1 11078845 11078845 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000240185.3:c.458C>T p.Thr153Met p.T153M ENST00000240185 NM_007375.3 153 aCg/aTg 0 Missense_Mutation C 19 TARDBP SNP 1 C T 11001432 11001432 WashU FBLN2 2199 genome.wustl.edu GRCh37 3 13679166 13679166 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000404922.3:c.3443C>A p.Ala1148Glu p.A1148E ENST00000404922 NM_001004019.1 1148 gCg/gAg 0 Nonsense_Mutation C 27 FBLN2 SNP 3 C A 13654167 13654167 WashU FBXW10 10517 genome.wustl.edu GRCh37 17 18654366 18654366 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395665.4:c.1122G>C p.Lys374Asn p.K374N ENST00000395665 374 aaG/aaC 0 Missense_Mutation G 35 FBXW10 SNP 17 G C 18595091 18595091 WashU PLEKHA5 54477 genome.wustl.edu GRCh37 12 19518902 19518902 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000429027.2:c.3613C>G p.Gln1205Glu p.Q1205E ENST00000429027 NM_001256470.1 1205 Caa/Gaa 0 Missense_Mutation C 29 PLEKHA5 SNP 12 C G 19410169 19410169 WashU SLC24A2 25769 genome.wustl.edu GRCh37 9 19550152 19550152 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341998.2:c.1462C>A p.Pro488Thr p.P488T ENST00000341998 NM_001193288.2 488 Cct/Act 0 Missense_Mutation G 44 SLC24A2 SNP 9 G T 19540152 19540152 WashU GABPA 2551 genome.wustl.edu GRCh37 21 27121414 27121414 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354828.3:c.290A>C p.Gln97Pro p.Q97P ENST00000354828 NM_001197297.1 97 cAg/cCg 0 Missense_Mutation A 7 GABPA SNP 21 A C 26043285 26043285 WashU DSG3 1830 genome.wustl.edu GRCh37 18 29055844 29055844 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257189.4:c.2621C>A p.Ser874Tyr p.S874Y ENST00000257189 NM_001944.2 874 tCt/tAt 0 Missense_Mutation C 32 DSG3 SNP 18 C A 27309842 27309842 WashU YTHDF2 51441 genome.wustl.edu GRCh37 1 29069845 29069845 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373812.3:c.1063C>T p.Arg355Trp p.R355W ENST00000373812 NM_016258.2 355 Cgg/Tgg 0 Missense_Mutation C 31 YTHDF2 SNP 1 C T 28942432 28942432 WashU PPP1R10 5514 genome.wustl.edu GRCh37 6 30572486 30572486 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376511.2:c.981C>A p.Ser327Arg p.S327R ENST00000376511 NM_002714.3 327 agC/agA 0 Missense_Mutation G 46 PPP1R10 SNP 6 G T 30680465 30680465 WashU NRG1 3084 genome.wustl.edu GRCh37 8 32505637 32505637 + intron_variant Intron SNP G G T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356819.4:c.502+31234G>T *168* ENST00000356819 NM_013956.3 0 Missense_Mutation G 47 NRG1 SNP 8 G T 32625179 32625179 WashU ZSCAN20 7579 genome.wustl.edu GRCh37 1 33945215 33945215 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361328.3:c.326C>A p.Thr109Asn p.T109N ENST00000361328 NM_145238.3 109 aCc/aAc 0 Missense_Mutation C 18 ZSCAN20 SNP 1 C A 33717802 33717802 WashU EAPP 55837 genome.wustl.edu GRCh37 14 34998570 34998570 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000250454.3:c.464G>C p.Arg155Thr p.R155T ENST00000250454 NM_018453.3 155 aGa/aCa 0 Missense_Mutation C 32 EAPP SNP 14 C G 34068321 34068321 WashU AGXT2 64902 genome.wustl.edu GRCh37 5 35035363 35035363 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000231420.6:c.545G>C p.Arg182Thr p.R182T ENST00000231420 NM_031900.3 182 aGg/aCg 0 Missense_Mutation C 24 AGXT2 SNP 5 C G 35071120 35071120 WashU RPN2 6185 genome.wustl.edu GRCh37 20 35862446 35862446 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000237530.6:c.1701C>T p.Val567= p.V567= ENST00000237530 NM_002951.3 567 gtC/gtT 0 Silent C 32 RPN2 SNP 20 C T 35295860 35295860 WashU CDC6 990 genome.wustl.edu GRCh37 17 38447467 38447467 + synonymous_variant Silent SNP A A C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000209728.4:c.336A>C p.Leu112= p.L112= ENST00000209728 NM_001254.3 112 ctA/ctC 0 Silent A 15 CDC6 SNP 17 A C 35700993 35700993 WashU CDC6 990 genome.wustl.edu GRCh37 17 38457165 38457165 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000209728.4:c.1335G>T p.Arg445Ser p.R445S ENST00000209728 NM_001254.3 445 agG/agT 0 Missense_Mutation G 41 CDC6 SNP 17 G T 35710691 35710691 WashU AOC3 8639 genome.wustl.edu GRCh37 17 41004661 41004661 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308423.2:c.1301A>T p.Gln434Leu p.Q434L ENST00000308423 NM_003734.3 434 cAg/cTg 0 Missense_Mutation A 7 AOC3 SNP 17 T T 38258187 38258187 WashU ETS2 2114 genome.wustl.edu GRCh37 21 40191681 40191681 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360214.3:c.1066G>T p.Gly356Cys p.G356C ENST00000360214 NM_001256295.1 356 Ggc/Tgc 0 Missense_Mutation G 39 ETS2 SNP 21 T T 39113551 39113551 WashU ZNF461 92283 genome.wustl.edu GRCh37 19 37130147 37130147 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000588268.1:c.1100G>T p.Arg367Met p.R367M ENST00000588268 NM_153257.2 367 aGg/aTg 0 Missense_Mutation C 24 ZNF461 SNP 19 C A 41821987 41821987 WashU EML4 27436 genome.wustl.edu GRCh37 2 42522282 42522282 + synonymous_variant Silent SNP T T A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318522.5:c.1236T>A p.Val412= p.V412= ENST00000318522 NM_019063.3 412 gtT/gtA 0 Silent T 64 EML4 SNP 2 T A 42375786 42375786 WashU SPG11 80208 genome.wustl.edu GRCh37 15 44952735 44952735 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261866.7:c.337C>T p.Leu113= p.L113= ENST00000261866 NM_025137.3 113 Ctg/Ttg 0 Silent G 36 SPG11 SNP 15 G A 42740027 42740027 WashU ZNF691 51058 genome.wustl.edu GRCh37 1 43316672 43316672 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397044.3:c.136G>A p.Glu46Lys p.E46K ENST00000397044 46 Gag/Aag 0 Missense_Mutation G 45 ZNF691 SNP 1 G A 43089259 43089259 WashU SIPA1L3 23094 genome.wustl.edu GRCh37 19 38610261 38610261 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000222345.6:c.2607G>A p.Gly869= p.G869= ENST00000222345 NM_015073.1 869 ggG/ggA 0 Silent G 43 SIPA1L3 SNP 19 G A 43302101 43302101 WashU SPATA5L1 79029 genome.wustl.edu GRCh37 15 45713330 45713330 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000305560.6:c.2184G>A p.Pro728= p.P728= ENST00000305560 NM_024063.2 728 ccG/ccA 0 Silent G 40 SPATA5L1 SNP 15 G A 43500622 43500622 WashU RYR1 6261 genome.wustl.edu GRCh37 19 38924483 38924483 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000359596.3:c.14A>T p.Glu5Val p.E5V ENST00000359596 5 gAa/gTa 0 Missense_Mutation A 9 RYR1 SNP 19 A T 43616323 43616323 WashU MSH2 4436 genome.wustl.edu GRCh37 2 47657031 47657031 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000233146.2:c.1227G>A p.Gln409= p.Q409= ENST00000233146 NM_000251.2 409 caG/caA 0 Silent G 35 MSH2 SNP 2 G A 47510535 47510535 WashU SOS2 6655 genome.wustl.edu GRCh37 14 50585461 50585461 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216373.5:c.3600G>T p.Leu1200= p.L1200= ENST00000216373 NM_006939.2 1200 ctG/ctT 0 Silent C 25 SOS2 SNP 14 C A 49655211 49655211 WashU SNAI2 6591 genome.wustl.edu GRCh37 8 49831546 49831546 + splice_region_variant,synonymous_variant Splice_Region SNP C C A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396822.1:c.627G>T p.Gly209= p.G209= ENST00000396822 209 ggG/ggT 0 Silent C 22 SNAI2 SNP 8 C A 49994099 49994099 WashU TCF4 6925 genome.wustl.edu GRCh37 18 52895488 52895488 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398339.1:c.2290G>T p.Gly764Ter p.G764* ENST00000398339 NM_001243226.1 764 Gga/Tga 0 Nonsense_Mutation C 22 TCF4 SNP 18 C A 51046486 51046486 WashU DGKA 1606 genome.wustl.edu GRCh37 12 56334431 56334431 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331886.5:c.942G>A p.Ala314= p.A314= ENST00000331886 NM_001345.4 314 gcG/gcA 0 Silent G 39 DGKA SNP 12 G A 54620698 54620698 WashU FBXO34 55030 genome.wustl.edu GRCh37 14 55819068 55819068 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313833.4:c.1960T>A p.Tyr654Asn p.Y654N ENST00000313833 NM_017943.3 654 Tat/Aat 0 Missense_Mutation T 53 FBXO34 SNP 14 T A 54888821 54888821 WashU RTN4 57142 genome.wustl.edu GRCh37 2 55214836 55214836 + splice_acceptor_variant Splice_Site SNP T T C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337526.6:c.3014-2A>G p.X1005_splice ENST00000337526 NM_020532.4 0 Splice_Site_SNP T 53 RTN4 SNP 2 T C 55068340 55068340 WashU OR5M1 390168 genome.wustl.edu GRCh37 11 56380397 56380397 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000526538.1:c.582C>G p.Val194= p.V194= ENST00000526538 NM_001004740.1 194 gtC/gtG 0 Silent G 45 OR5M1 SNP 11 G C 56136973 56136973 WashU MS4A2 2206 genome.wustl.edu GRCh37 11 59863107 59863107 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000278888.3:c.713T>C p.Met238Thr p.M238T ENST00000278888 NM_000139.4 238 aTg/aCg 0 Missense_Mutation T 51 MS4A2 SNP 11 T C 59619683 59619683 WashU CDH8 1006 genome.wustl.edu GRCh37 16 61851493 61851493 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000577390.1:c.1167G>T p.Pro389= p.P389= ENST00000577390 NM_001796.4 389 ccG/ccT 0 Silent C 23 CDH8 SNP 16 C A 60408994 60408994 WashU PRICKLE2 166336 genome.wustl.edu GRCh37 3 64085392 64085392 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295902.6:c.1870C>A p.Leu624Ile p.L624I ENST00000295902 NM_198859.3 624 Ctc/Atc 0 Missense_Mutation G 34 PRICKLE2 SNP 3 G T 64060432 64060432 WashU SDK2 54549 genome.wustl.edu GRCh37 17 71364621 71364621 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392650.3:c.5092G>T p.Val1698Phe p.V1698F ENST00000392650 NM_001144952.1 1698 Gtc/Ttc 0 Missense_Mutation C 18 SDK2 SNP 17 C A 68876216 68876216 WashU CCDC33 80125 genome.wustl.edu GRCh37 15 74623038 74623038 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398814.3:c.1491G>A p.Leu497= p.L497= ENST00000398814 NM_025055.4 497 ctG/ctA 0 Silent G 47 CCDC33 SNP 15 G A 72410091 72410091 WashU RIMS1 22999 genome.wustl.edu GRCh37 6 72968728 72968728 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000521978.1:c.2967T>C p.Ser989= p.S989= ENST00000521978 NM_014989.5 989 tcT/tcC 0 Silent T 54 RIMS1 SNP 6 T C 73025449 73025449 WashU C10orf54 64115 genome.wustl.edu GRCh37 10 73520673 73520673 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394957.3:c.520G>C p.Ala174Pro p.A174P ENST00000394957 NM_022153.1 174 Gca/Cca 0 Missense_Mutation C 25 C10orf54 SNP 10 C G 73190679 73190679 WashU SCEL 8796 genome.wustl.edu GRCh37 13 78167662 78167662 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000349847.3:c.706G>C p.Asp236His p.D236H ENST00000349847 NM_144777.2 236 Gat/Cat 0 Missense_Mutation G 45 SCEL SNP 13 G C 77065663 77065663 WashU RASGRF1 5923 genome.wustl.edu GRCh37 15 79339206 79339206 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000419573.3:c.760G>C p.Glu254Gln p.E254Q ENST00000419573 NM_002891.4 254 Gag/Cag 0 Missense_Mutation C 29 RASGRF1 SNP 15 C G 77126261 77126261 WashU NUP54 53371 genome.wustl.edu GRCh37 4 77051836 77051836 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264883.3:c.1029G>A p.Met343Ile p.M343I ENST00000264883 NM_001278603.1 343 atG/atA 0 Missense_Mutation C 29 NUP54 SNP 4 C T 77270860 77270860 WashU ACAN 176 genome.wustl.edu GRCh37 15 89382075 89382075 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000439576.2:c.252A>G p.Val84= p.V84= ENST00000439576 NM_013227.3 84 gtA/gtG 0 Silent A 15 ACAN SNP 15 A G 87183079 87183079 WashU TUBB3 10381 genome.wustl.edu GRCh37 16 89999920 89999920 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315491.7:c.211G>A p.Gly71Arg p.G71R ENST00000315491 NM_006086.3 71 Gga/Aga 0 Missense_Mutation G 39 TUBB3 SNP 16 G A 88527421 88527421 WashU LCOR 84458 genome.wustl.edu GRCh37 10 98715149 98715149 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371097.4:c.772G>C p.Val258Leu p.V258L ENST00000371097 258 Gtt/Ctt 0 Missense_Mutation G 36 LCOR SNP 10 G C 98705139 98705139 WashU MTTP 4547 genome.wustl.edu GRCh37 4 100543935 100543935 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000457717.1:c.2615A>T p.Gln872Leu p.Q872L ENST00000457717 NM_000253.2 872 cAa/cTa 0 Missense_Mutation A 5 MTTP SNP 4 A T 100762958 100762958 WashU COL15A1 1306 genome.wustl.edu GRCh37 9 101810247 101810247 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375001.3:c.2758A>C p.Lys920Gln p.K920Q ENST00000375001 NM_001855.4 920 Aag/Cag 0 Missense_Mutation A 5 COL15A1 SNP 9 A C 100850068 100850068 WashU CUX1 1523 genome.wustl.edu GRCh37 7 101840497 101840497 + synonymous_variant Silent SNP T T G novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360264.3:c.1839T>G p.Arg613= p.R613= ENST00000360264 NM_001202543.1 613 cgT/cgG 0 Silent T 59 CUX1 SNP 7 T G 101627217 101627217 WashU RNF20 56254 genome.wustl.edu GRCh37 9 104312889 104312889 + missense_variant,splice_region_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389120.3:c.1094T>G p.Val365Gly p.V365G ENST00000389120 NM_019592.6 365 gTg/gGg 0 Missense_Mutation T 59 RNF20 SNP 9 T G 103352710 103352710 WashU SLC25A32 81034 genome.wustl.edu GRCh37 8 104419864 104419864 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297578.4:c.303C>A p.Phe101Leu p.F101L ENST00000297578 NM_030780.4 101 ttC/ttA 0 Missense_Mutation G 33 SLC25A32 SNP 8 G T 104489040 104489040 WashU TMEM119 338773 genome.wustl.edu GRCh37 12 108985584 108985584 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392806.3:c.576C>T p.Gly192= p.G192= ENST00000392806 NM_181724.2 192 ggC/ggT 0 Silent G 38 TMEM119 SNP 12 A A 107509713 107509713 WashU KCNA10 3744 genome.wustl.edu GRCh37 1 111061295 111061295 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369771.2:c.115G>C p.Gly39Arg p.G39R ENST00000369771 NM_005549.2 39 Ggc/Cgc 0 Missense_Mutation C 24 KCNA10 SNP 1 C G 110862818 110862818 WashU KCNA3 3738 genome.wustl.edu GRCh37 1 111216555 111216555 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369769.2:c.877G>A p.Asp293Asn p.D293N ENST00000369769 NM_002232.3 293 Gat/Aat 0 Missense_Mutation C 31 KCNA3 SNP 1 C T 111018078 111018078 WashU AQPEP 206338 genome.wustl.edu GRCh37 5 115323552 115323552 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357872.4:c.1021G>T p.Ala341Ser p.A341S ENST00000357872 NM_173800.4 341 Gca/Tca 0 Missense_Mutation G 46 LVRN SNP 5 G T 115351451 115351451 WashU BACE1 23621 genome.wustl.edu GRCh37 11 117161212 117161212 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313005.6:c.1256C>G p.Ala419Gly p.A419G ENST00000313005 NM_138971.3 419 gCt/gGt 0 Missense_Mutation G 34 BACE1 SNP 11 G C 116666422 116666422 WashU GLI2 2736 genome.wustl.edu GRCh37 2 121748046 121748046 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000452319.1:c.4556G>A p.Gly1519Asp p.G1519D ENST00000452319 1519 gGc/gAc 0 Missense_Mutation G 42 GLI2 SNP 2 G A 121464516 121464516 WashU TRPC3 7222 genome.wustl.edu GRCh37 4 122824122 122824122 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379645.3:c.2348T>C p.Val783Ala p.V783A ENST00000379645 NM_001130698.1 783 gTt/gCt 0 Missense_Mutation A 2 TRPC3 SNP 4 A G 123043572 123043572 WashU OR6X1 390260 genome.wustl.edu GRCh37 11 123624990 123624990 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327930.2:c.237G>A p.Leu79= p.L79= ENST00000327930 NM_001005188.1 79 ctG/ctA 0 Silent C 25 OR6X1 SNP 11 C T 123130200 123130200 WashU SCAI 286205 genome.wustl.edu GRCh37 9 127828305 127828305 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373549.4:c.131A>T p.Gln44Leu p.Q44L ENST00000373549 NM_173690.4 44 cAa/cTa 0 Missense_Mutation T 63 SCAI SNP 9 T A 126868126 126868126 WashU KRT18P44 139748 genome.wustl.edu GRCh37 X 127848673 127848673 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000416086.1:n.190G>A *64* ENST00000416086 0 Missense_Mutation G 42 KRT18P44 SNP 23 G A 127676354 127676354 WashU TSGA13 114960 genome.wustl.edu GRCh37 7 130357608 130357608 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000456951.1:c.496G>A p.Asp166Asn p.D166N ENST00000456951 166 Gat/Aat 0 Missense_Mutation C 30 TSGA13 SNP 7 C T 130008148 130008148 WashU AC079776.2 genome.wustl.edu GRCh37 2 130683274 130683274 + intron_variant,non_coding_transcript_variant Intron SNP C C T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000433290.1:n.140-2020G>A *47* ENST00000433290 0 Missense_Mutation C 17 ENSG00000214100 SNP 2 T T 130399744 130399744 WashU EXOSC2 23404 genome.wustl.edu GRCh37 9 133578463 133578463 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372358.5:c.696G>T p.Glu232Asp p.E232D ENST00000372358 232 gaG/gaT 0 Missense_Mutation G 35 EXOSC2 SNP 9 G T 132568284 132568284 WashU PCDHGB4 8641 genome.wustl.edu GRCh37 5 140768891 140768891 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000519479.1:c.1440G>T p.Gly480= p.G480= ENST00000519479 NM_003736.2 480 ggG/ggT 0 Silent G 42 PCDHGB4 SNP 5 G T 140749075 140749075 WashU C3orf58 205428 genome.wustl.edu GRCh37 3 143704415 143704415 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315691.3:c.688G>C p.Ala230Pro p.A230P ENST00000315691 NM_173552.3 230 Gca/Cca 0 Missense_Mutation G 46 C3orf58 SNP 3 G C 145187105 145187105 WashU TMOD4 29765 genome.wustl.edu GRCh37 1 151143925 151143925 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295314.4:c.710G>T p.Gly237Val p.G237V ENST00000295314 NM_013353.2 237 gGt/gTt 0 Missense_Mutation C 18 TMOD4 SNP 1 C A 149410549 149410549 WashU PASD1 139135 genome.wustl.edu GRCh37 X 150793954 150793954 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370357.4:c.581C>T p.Ala194Val p.A194V ENST00000370357 NM_173493.2 194 gCt/gTt 0 Missense_Mutation C 28 PASD1 SNP 23 C T 150544610 150544610 WashU CCDC69 26112 genome.wustl.edu GRCh37 5 150581211 150581211 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355417.2:c.163C>G p.Arg55Gly p.R55G ENST00000355417 NM_015621.2 55 Cgg/Ggg 0 Missense_Mutation G 38 CCDC69 SNP 5 G C 150561404 150561404 WashU GALNTL5 168391 genome.wustl.edu GRCh37 7 151716755 151716755 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392800.2:c.1201G>A p.Gly401Ser p.G401S ENST00000392800 NM_145292.3 401 Ggt/Agt 0 Missense_Mutation G 47 GALNTL5 SNP 7 G A 151347688 151347688 WashU ATP2B3 492 genome.wustl.edu GRCh37 X 152845739 152845739 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263519.4:c.3646G>A p.Val1216Met p.V1216M ENST00000263519 NM_001001344.2 1216 Gtg/Atg 0 Missense_Mutation G 40 ATP2B3 SNP 23 G A 152498933 152498933 WashU PRPF40A 55660 genome.wustl.edu GRCh37 2 153572550 153572550 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000410080.1:c.175C>G p.Pro59Ala p.P59A ENST00000410080 NM_017892.3 59 Ccg/Gcg 0 Missense_Mutation G 42 PRPF40A SNP 2 G C 153280796 153280796 WashU SLAMF9 89886 genome.wustl.edu GRCh37 1 159922246 159922246 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368093.3:c.470C>A p.Ser157Tyr p.S157Y ENST00000368093 NM_033438.3 157 tCt/tAt 0 Missense_Mutation G 33 SLAMF9 SNP 1 G T 158188870 158188870 WashU FAM153B 202134 genome.wustl.edu GRCh37 5 175520250 175520250 + synonymous_variant Silent SNP A A T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000515817.1:c.81A>T p.Thr27= p.T27= ENST00000515817 NM_001265615.1 27 acA/acT 0 Silent A 8 FAM153B SNP 5 A T 175452856 175452856 WashU UIMC1 51720 genome.wustl.edu GRCh37 5 176396700 176396700 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377227.4:c.365G>A p.Arg122Gln p.R122Q ENST00000377227 122 cGg/cAg 0 Missense_Mutation C 23 UIMC1 SNP 5 C T 176329306 176329306 WashU RNASEL 6041 genome.wustl.edu GRCh37 1 182555278 182555278 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367559.3:c.664A>T p.Thr222Ser p.T222S ENST00000367559 NM_021133.3 222 Acg/Tcg 0 Missense_Mutation T 57 RNASEL SNP 1 T A 180821901 180821901 WashU UBE2E3 10477 genome.wustl.edu GRCh37 2 181846835 181846835 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000410062.4:c.66G>T p.Ala22= p.A22= ENST00000410062 NM_006357.3 22 gcG/gcT 0 Silent G 39 UBE2E3 SNP 2 G T 181555080 181555080 WashU HMCN1 83872 genome.wustl.edu GRCh37 1 186135993 186135993 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271588.4:c.15493G>T p.Asp5165Tyr p.D5165Y ENST00000271588 NM_031935.2 5165 Gac/Tac 0 Missense_Mutation G 45 HMCN1 SNP 1 G T 184402616 184402616 WashU C4BPB 725 genome.wustl.edu GRCh37 1 207269942 207269942 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000243611.5:c.485G>T p.Ser162Ile p.S162I ENST00000243611 NM_000716.3 162 aGt/aTt 0 Missense_Mutation G 36 C4BPB SNP 1 G T 205336565 205336565 WashU PIKFYVE 200576 genome.wustl.edu GRCh37 2 209201629 209201629 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264380.4:c.4588C>G p.Leu1530Val p.L1530V ENST00000264380 NM_015040.3 1530 Ctg/Gtg 0 Missense_Mutation C 20 PIKFYVE SNP 2 C G 208909874 208909874 WashU USH2A 7399 genome.wustl.edu GRCh37 1 216420527 216420527 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307340.3:c.2209C>T p.Arg737Ter p.R737* ENST00000307340 NM_206933.2 737 Cga/Tga 0 Nonsense_Mutation G 39 USH2A SNP 1 G A 214487150 214487150 WashU AAMP 14 genome.wustl.edu GRCh37 2 219130790 219130790 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000248450.4:c.760A>T p.Lys254Ter p.K254* ENST00000248450 254 Aaa/Taa 0 Nonsense_Mutation T 62 AAMP SNP 2 T A 218839034 218839034 WashU COL4A4 1286 genome.wustl.edu GRCh37 2 227924933 227924933 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396625.3:c.2083G>T p.Gly695Cys p.G695C ENST00000396625 NM_000092.4 695 Ggt/Tgt 0 Missense_Mutation C 24 COL4A4 SNP 2 C A 227633177 227633177 WashU ZNF496 84838 genome.wustl.edu GRCh37 1 247464555 247464555 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294753.4:c.1030G>C p.Glu344Gln p.E344Q ENST00000294753 NM_032752.1 344 Gag/Cag 0 Missense_Mutation C 32 ZNF496 SNP 1 C G 245531178 245531178 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578470 7578500 + frameshift_variant Frame_Shift_Del DEL CGGGCGGGGGTGTGGAATCAACCCACAGCTG CGGGCGGGGGTGTGGAATCAACCCACAGCTG - novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 CGGGCGGGGGTGTGGAATCAACCCACAGCTG CGGGCGGGGGTGTGGAATCAACCCACAGCTG CGGGCGGGGGTGTGGAATCAACCCACAGCTG - CGGGCGGGGGTGTGGAATCAACCCACAGCTG CGGGCGGGGGTGTGGAATCAACCCACAGCTG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.430_460del p.Gln144AlafsTer16 p.Q144Afs*16 ENST00000269305 NM_001126112.2 144 CAGCTGTGGGTTGATTCCACACCCCCGCCCGgc/gc 0 Frame_Shift_Del CGGGCGGGGGTGTGGAATCAACCCACAGCTG 23 TP53 DEL 17 CGGGCGGGGGTGTGGAATCAACCCACAGCTG - 7519225 7519195 WashU N4BP2L2 10443 genome.wustl.edu GRCh37 13 33016881 33016893 + frameshift_variant Frame_Shift_Del DEL AAAGAAGGAATAT AAAGAAGGAATAT - novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 AAAGAAGGAATAT AAAGAAGGAATAT AAAGAAGGAATAT - AAAGAAGGAATAT AAAGAAGGAATAT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399396.3:c.1781_1793del p.Tyr594LeufsTer21 p.Y594Lfs*21 ENST00000399396 NM_033111.4 594 tATATTCCTTCTTTt/tt 0 Frame_Shift_Del AAAGAAGGAATAT 1 N4BP2L2 DEL 13 AAAGAAGGAATAT - 31914893 31914881 WashU RP11-700P18.1 441228 genome.wustl.edu GRCh37 7 56358172 56358185 + non_coding_transcript_exon_variant RNA DEL TCTCTAGCAGACTG TCTCTAGCAGACTG - novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 TCTCTAGCAGACTG TCTCTAGCAGACTG TCTCTAGCAGACTG - TCTCTAGCAGACTG TCTCTAGCAGACTG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000449426.1:n.1942_1955del *648* ENST00000449426 0 Frame_Shift_Del TCTCTAGCAGACTG 54 LOC441228 DEL 7 TCTCTAGCAGACTG - 56325679 56325666 WashU LRP2 4036 genome.wustl.edu GRCh37 2 170034522 170034522 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 T T C T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000263816.3:c.10184A>G p.Glu3395Gly p.E3395G ENST00000263816 NM_004525.2 3395 gAg/gGg 0 Missense_Mutation T 54 LRP2 SNP 2 C T 169742768 169742768 WashU DCLK2 166614 genome.wustl.edu GRCh37 4 151168756 151168756 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000302176.8:c.1831G>A p.Glu611Lys p.E611K ENST00000302176 NM_001040261.4 611 Gag/Aag 0 Missense_Mutation G 45 DCLK2 SNP 4 A G 151388206 151388206 WashU PRAMEF20 645425 genome.wustl.edu GRCh37 1 13742951 13742951 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316412.5:c.140G>C p.Arg47Thr p.R47T ENST00000316412 NM_001099852.1 47 aGa/aCa 0 Missense_Mutation G 33 PRAMEF20 SNP 1 C C 13615538 13615538 WashU C10ORF68 genome.wustl.edu GRCh37 10 33000616 33000616 + stop_gained,NMD_transcript_variant Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302316.6:c.448C>T p.Gln150Ter p.Q150* ENST00000302316 NM_024688.2 150 Caa/Taa 0 Nonsense_Mutation C 25 C10orf68 SNP 10 C T 33040622 33040622 WashU TMEM132D 121256 genome.wustl.edu GRCh37 12 130184522 130184522 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422113.2:c.801C>T p.Ile267= p.I267= ENST00000422113 NM_133448.2 267 atC/atT 0 Silent G 37 TMEM132D SNP 12 A A 128750475 128750475 WashU ANPEP 290 genome.wustl.edu GRCh37 15 90349386 90349386 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300060.6:c.429A>G p.Gly143= p.G143= ENST00000300060 NM_001150.2 143 ggA/ggG 0 Silent T 54 ANPEP SNP 15 T C 88150390 88150390 WashU SERPINB11 89778 genome.wustl.edu GRCh37 18 61390572 61390572 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000544088.1:c.1118T>A p.Phe373Tyr p.F373Y ENST00000544088 NM_080475.2 373 tTc/tAc 0 Missense_Mutation T 62 SERPINB11 SNP 18 T A 59541552 59541552 WashU TTN 7273 genome.wustl.edu GRCh37 2 179642016 179642016 + missense_variant Missense_Mutation SNP A A C Unknown TCGA-23-1117-01 TCGA-23-1117-10 A A A C A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000589042.1:c.4674T>G p.Phe1558Leu p.F1558L ENST00000589042 NM_001267550.1 1558 ttT/ttG 0 Missense_Mutation A 5 TTN SNP 2 A C 179350261 179350261 WashU CPN2 1370 genome.wustl.edu GRCh37 3 194062469 194062469 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000323830.3:c.963A>G p.Ser321= p.S321= ENST00000323830 NM_001080513.2 321 tcA/tcG 0 Silent T 51 CPN2 SNP 3 T C 195544164 195544164 WashU SEMA6A 57556 genome.wustl.edu GRCh37 5 115827448 115827448 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000343348.6:c.523G>A p.Ala175Thr p.A175T ENST00000343348 NM_020796.3 175 Gca/Aca 0 Missense_Mutation C 25 SEMA6A SNP 5 C T 115855347 115855347 WashU CEP57L1 285753 genome.wustl.edu GRCh37 6 109480666 109480666 + splice_donor_variant Splice_Site SNP G G A Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000407272.1:c.1016+1G>A p.X339_splice ENST00000407272 NM_001083535.1 0 Splice_Site_SNP G 48 C6orf182 SNP 6 G A 109587359 109587359 WashU HIST1H2BD 3017 genome.wustl.edu GRCh37 6 26158751 26158751 + synonymous_variant Silent SNP C C G Unknown TCGA-23-1117-01 TCGA-23-1117-10 C C C G C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000289316.2:c.354C>G p.Ala118= p.A118= ENST00000289316 NM_138720.2 118 gcC/gcG 0 Silent C 23 HIST1H2BD SNP 6 C G 26266730 26266730 WashU FLNC 2318 genome.wustl.edu GRCh37 7 128484288 128484288 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000325888.8:c.3160G>T p.Val1054Leu p.V1054L ENST00000325888 NM_001458.4 1054 Gtg/Ttg 0 Missense_Mutation G 48 FLNC SNP 7 G T 128271524 128271524 WashU IZUMO1 284359 genome.wustl.edu GRCh37 19 49245071 49245071 + synonymous_variant Silent SNP G G C Unknown TCGA-23-1117-01 TCGA-23-1117-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000332955.2:c.729C>G p.Ala243= p.A243= ENST00000332955 NM_182575.2 243 gcC/gcG 0 Silent G 47 IZUMO1 SNP 19 G C 53936883 53936883 WashU IL1RAPL1 11141 genome.wustl.edu GRCh37 X 29938089 29938089 + missense_variant Missense_Mutation SNP A A C Unknown TCGA-23-1117-01 TCGA-23-1117-10 A A A C A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000378993.1:c.935A>C p.Glu312Ala p.E312A ENST00000378993 NM_014271.3 312 gAa/gCa 0 Missense_Mutation A 9 IL1RAPL1 SNP 23 A C 29848010 29848010 WashU UBXN11 91544 broad.mit.edu GRCh37 1 26610659 26610659 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000374222.1:c.1051C>T p.Arg351Trp p.R351W ENST00000374222 351 Cgg/Tgg 0 Missense_Mutation G 39 UBXN11 SNP 1 G A 26483246 26483246 Broad ITIH2 3698 broad.mit.edu GRCh37 10 7747099 7747099 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000358415.4:c.113T>A p.Leu38Gln p.L38Q ENST00000358415 NM_002216.2 38 cTg/cAg 0 Missense_Mutation T 55 ITIH2 SNP 10 T A 7787105 7787105 Broad SEC61A2 55176 broad.mit.edu GRCh37 10 12199963 12199963 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000298428.9:c.834C>G p.Ser278Arg p.S278R ENST00000298428 NM_018144.3 278 agC/agG 0 Missense_Mutation C 28 SEC61A2 SNP 10 C G 12239969 12239969 Broad PBLD 64081 broad.mit.edu GRCh37 10 70051944 70051944 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000358769.2:c.335C>A p.Ala112Asp p.A112D ENST00000358769 NM_022129.3 112 gCc/gAc 0 Missense_Mutation G 42 PBLD SNP 10 G T 69721950 69721950 Broad PCDH8 5100 broad.mit.edu GRCh37 13 53420356 53420356 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000377942.3:c.2216T>G p.Val739Gly p.V739G ENST00000377942 NM_002590.3 739 gTg/gGg 0 Missense_Mutation A 6 PCDH8 SNP 13 A C 52318357 52318357 Broad KCTD12 115207 broad.mit.edu GRCh37 13 77459360 77459360 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000377474.2:c.924G>T p.Gln308His p.Q308H ENST00000377474 NM_138444.3 308 caG/caT 0 Missense_Mutation C 32 KCTD12 SNP 13 C A 76357361 76357361 Broad HSP90AA1 3320 broad.mit.edu GRCh37 14 102551683 102551683 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000334701.7:c.981G>C p.Glu327Asp p.E327D ENST00000334701 NM_001017963.2 327 gaG/gaC 0 Missense_Mutation C 32 HSP90AA1 SNP 14 C G 101621436 101621436 Broad TGM7 116179 broad.mit.edu GRCh37 15 43571405 43571405 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000452443.2:c.1749C>T p.Arg583= p.R583= ENST00000452443 NM_052955.2 583 cgC/cgT 0 Silent G 38 TGM7 SNP 15 G A 41358697 41358697 Broad TP53 7157 broad.mit.edu GRCh37 17 7577568 7577568 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.713G>A p.Cys238Tyr p.C238Y ENST00000269305 NM_001126112.2 238 tGt/tAt 0 Missense_Mutation C 17 TP53 SNP 17 C T 7518293 7518293 Broad SYNRG 11276 broad.mit.edu GRCh37 17 35913748 35913748 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000339208.6:c.2077G>A p.Asp693Asn p.D693N ENST00000339208 NM_001163544.1 693 Gat/Aat 0 Missense_Mutation C 32 SYNRG SNP 17 C T 32987861 32987861 Broad PPAN 56342 broad.mit.edu GRCh37 19 10218794 10218794 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000393796.4:c.497C>T p.Ser166Phe p.S166F ENST00000393796 166 tCc/tTc 0 Missense_Mutation C 30 PPAN SNP 19 C T 10079794 10079794 Broad ZNF260 339324 broad.mit.edu GRCh37 19 37005887 37005887 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000523638.1:c.254G>T p.Cys85Phe p.C85F ENST00000523638 NM_001166038.1 85 tGt/tTt 0 Missense_Mutation C 17 ZNF260 SNP 19 C A 41697727 41697727 Broad ZNF548 147694 broad.mit.edu GRCh37 19 57910960 57910960 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000336128.7:c.1341C>T p.Asn447= p.N447= ENST00000336128 NM_001172773.1 447 aaC/aaT 0 Silent C 18 ZNF548 SNP 19 C T 62602772 62602772 Broad EIF2AK3 9451 broad.mit.edu GRCh37 2 88890407 88890407 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000303236.3:c.931A>C p.Lys311Gln p.K311Q ENST00000303236 NM_004836.5 311 Aag/Cag 0 Missense_Mutation T 64 EIF2AK3 SNP 2 T G 88671522 88671522 Broad GTF3C3 9330 broad.mit.edu GRCh37 2 197664243 197664243 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000263956.3:c.93C>G p.Arg31= p.R31= ENST00000263956 NM_012086.4 31 cgC/cgG 0 Silent G 38 GTF3C3 SNP 2 G C 197372488 197372488 Broad ACKR3 57007 broad.mit.edu GRCh37 2 237489529 237489529 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000272928.3:c.421G>T p.Asp141Tyr p.D141Y ENST00000272928 NM_020311.2 141 Gac/Tac 0 Missense_Mutation G 41 CXCR7 SNP 2 G T 237154268 237154268 Broad ANKMY1 51281 broad.mit.edu GRCh37 2 241492375 241492376 + missense_variant Missense_Mutation DNP GG GG TT novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000391987.1:c.168_169delinsAA p.His56Gln p.H56Q ENST00000391987 56 caCCga/caAAga 0 Missense_Mutation GG 39 ANKMY1 DNP 2 GG TT 241141049 241141048 Broad CDC25B 994 broad.mit.edu GRCh37 20 3781936 3781936 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000245960.5:c.741G>T p.Glu247Asp p.E247D ENST00000245960 NM_021873.2 247 gaG/gaT 0 Missense_Mutation G 34 CDC25B SNP 20 G T 3729936 3729936 Broad CHD6 84181 broad.mit.edu GRCh37 20 40120455 40120455 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000373233.3:c.1319G>A p.Arg440Gln p.R440Q ENST00000373233 NM_032221.4 440 cGg/cAg 0 Missense_Mutation C 23 CHD6 SNP 20 C T 39553869 39553869 Broad PCDHA13 56136 broad.mit.edu GRCh37 5 140263877 140263877 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000289272.2:c.2024C>T p.Ala675Val p.A675V ENST00000289272 NM_018904.2 675 gCg/gTg 0 Missense_Mutation C 27 PCDHA13 SNP 5 C T 140244061 140244061 Broad FKBP9 11328 broad.mit.edu GRCh37 7 32997313 32997313 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000242209.4:c.128T>C p.Val43Ala p.V43A ENST00000242209 NM_007270.3 43 gTg/gCg 0 Missense_Mutation T 59 FKBP9 SNP 7 T C 32963838 32963838 Broad KMT2C 58508 broad.mit.edu GRCh37 7 151845895 151845895 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000262189.6:c.13117C>G p.Pro4373Ala p.P4373A ENST00000262189 NM_170606.2 4373 Cca/Gca 0 Missense_Mutation G 44 MLL3 SNP 7 G C 151476828 151476828 Broad CSMD3 114788 broad.mit.edu GRCh37 8 113303838 113303838 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000297405.5:c.8875G>T p.Val2959Leu p.V2959L ENST00000297405 NM_198123.1 2959 Gta/Tta 0 Missense_Mutation C 18 CSMD3 SNP 8 C A 113373014 113373014 Broad SLC45A4 57210 broad.mit.edu GRCh37 8 142228370 142228370 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000024061.3:c.1216G>A p.Asp406Asn p.D406N ENST00000024061 NM_001080431.1 406 Gac/Aac 0 Missense_Mutation C 31 SLC45A4 SNP 8 C T 142297552 142297552 Broad PRUNE2 158471 broad.mit.edu GRCh37 9 79320738 79320738 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000376718.3:c.6452G>A p.Arg2151Gln p.R2151Q ENST00000376718 NM_015225.2 2151 cGg/cAg 0 Missense_Mutation C 23 PRUNE2 SNP 9 C T 78510558 78510558 Broad USP9X 8239 broad.mit.edu GRCh37 X 41075555 41075555 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000324545.8:c.5735A>G p.Asp1912Gly p.D1912G ENST00000324545 NM_001039590.2 1912 gAt/gGt 0 Missense_Mutation A 12 USP9X SNP 23 A G 40960499 40960499 Broad TEX13A 56157 broad.mit.edu GRCh37 X 104464852 104464852 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01 TCGA-61-1995-11 Unknown Unknown Unknown x x x ENST00000413579.1:c.230G>A p.Arg77His p.R77H ENST00000413579 77 cGc/cAc 0 Missense_Mutation C 27 TEX13A SNP 23 C T 104351508 104351508 Broad UBR4 23352 broad.mit.edu GRCh37 1 19442130 19442130 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000375254.3:c.10825C>A p.Pro3609Thr p.P3609T ENST00000375254 NM_020765.2 3609 Cca/Aca 0 Missense_Mutation G 42 UBR4 SNP 1 G T 19314717 19314717 Broad CLSPN 63967 broad.mit.edu GRCh37 1 36202125 36202125 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000318121.3:c.3992G>A p.Arg1331Gln p.R1331Q ENST00000318121 NM_022111.3 1331 cGa/cAa 0 Missense_Mutation C 31 CLSPN SNP 1 C T 35974712 35974712 Broad DPH2 1802 broad.mit.edu GRCh37 1 44437736 44437736 + synonymous_variant Silent SNP T T C novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000255108.3:c.1162T>C p.Leu388= p.L388= ENST00000255108 NM_001384.4 388 Ttg/Ctg 0 Silent T 52 DPH2 SNP 1 T C 44210323 44210323 Broad ZRANB2 9406 broad.mit.edu GRCh37 1 71544345 71544345 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000370920.3:c.103G>T p.Gly35Cys p.G35C ENST00000370920 NM_203350.2 35 Ggt/Tgt 0 Missense_Mutation C 21 ZRANB2 SNP 1 C A 71316933 71316933 Broad CAMSAP2 23271 broad.mit.edu GRCh37 1 200730072 200730072 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000358823.2:c.245G>T p.Cys82Phe p.C82F ENST00000358823 NM_203459.1 82 tGt/tTt 0 Missense_Mutation G 48 CAMSAP1L1 SNP 1 G T 198996695 198996695 Broad EXO1 9156 broad.mit.edu GRCh37 1 242035397 242035397 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000366548.3:c.1331A>C p.Lys444Thr p.K444T ENST00000366548 NM_130398.3 444 aAa/aCa 0 Missense_Mutation A 1 EXO1 SNP 1 A C 240102020 240102020 Broad HBD 3045 broad.mit.edu GRCh37 11 5255416 5255416 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000380299.3:c.120G>C p.Gln40His p.Q40H ENST00000380299 NM_000519.3 40 caG/caC 0 Missense_Mutation C 32 HBD SNP 11 C G 5211992 5211992 Broad ZFPL1 7542 broad.mit.edu GRCh37 11 64855506 64855506 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000294258.3:c.853C>T p.Arg285Cys p.R285C ENST00000294258 NM_006782.3 285 Cgc/Tgc 0 Missense_Mutation C 31 ZFPL1 SNP 11 C T 64612082 64612082 Broad OR2AT4 341152 broad.mit.edu GRCh37 11 74800171 74800171 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000305159.3:c.588C>A p.Asp196Glu p.D196E ENST00000305159 NM_001005285.1 196 gaC/gaA 0 Missense_Mutation G 48 OR2AT4 SNP 11 G T 74477819 74477819 Broad ATP2B1 490 broad.mit.edu GRCh37 12 89997553 89997553 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000428670.3:c.2784G>C p.Met928Ile p.M928I ENST00000428670 928 atG/atC 0 Missense_Mutation C 29 ATP2B1 SNP 12 C G 88521684 88521684 Broad ATP6V0A2 23545 broad.mit.edu GRCh37 12 124220090 124220090 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000330342.3:c.744C>T p.His248= p.H248= ENST00000330342 NM_012463.3 248 caC/caT 0 Silent C 19 ATP6V0A2 SNP 12 C T 122786043 122786043 Broad GPC5 2262 broad.mit.edu GRCh37 13 92345782 92345782 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000377067.3:c.667C>T p.Arg223Cys p.R223C ENST00000377067 NM_004466.4 223 Cgc/Tgc 0 Missense_Mutation C 23 GPC5 SNP 13 C T 91143783 91143783 Broad SLC10A2 6555 broad.mit.edu GRCh37 13 103703768 103703768 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000245312.3:c.600G>A p.Ala200= p.A200= ENST00000245312 NM_000452.2 200 gcG/gcA 0 Silent C 23 SLC10A2 SNP 13 C T 102501769 102501769 Broad MCF2L 23263 broad.mit.edu GRCh37 13 113699656 113699656 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000535094.2:c.350C>T p.Ala117Val p.A117V ENST00000535094 NM_001112732.2 117 gCg/gTg 0 Missense_Mutation C 27 MCF2L SNP 13 C T 112747657 112747657 Broad PELI2 57161 broad.mit.edu GRCh37 14 56763463 56763463 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000267460.4:c.842G>A p.Arg281Gln p.R281Q ENST00000267460 NM_021255.2 281 cGg/cAg 0 Missense_Mutation G 39 PELI2 SNP 14 G A 55833216 55833216 Broad UNC79 57578 broad.mit.edu GRCh37 14 94103632 94103632 + synonymous_variant Silent SNP A A G novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000256339.4:c.5373A>G p.Pro1791= p.P1791= ENST00000256339 NM_020818.3 1791 ccA/ccG 0 Silent A 8 KIAA1409 SNP 14 A G 93173385 93173385 Broad SALL1 6299 broad.mit.edu GRCh37 16 51175937 51175937 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 T G T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000251020.4:c.196A>C p.Thr66Pro p.T66P ENST00000251020 NM_002968.2 66 Act/Cct 0 Missense_Mutation T 57 SALL1 SNP 16 T G 49733438 49733438 Broad ZBTB4 57659 broad.mit.edu GRCh37 17 7365584 7365584 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000311403.4:c.2717G>A p.Arg906Gln p.R906Q ENST00000311403 NM_020899.3 906 cGg/cAg 0 Missense_Mutation C 23 ZBTB4 SNP 17 C T 7306308 7306308 Broad TP53 7157 broad.mit.edu GRCh37 17 7578442 7578442 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000269305.4:c.488A>G p.Tyr163Cys p.Y163C ENST00000269305 NM_001126112.2 163 tAc/tGc 0 Missense_Mutation T 57 TP53 SNP 17 T C 7519167 7519167 Broad MED1 5469 broad.mit.edu GRCh37 17 37565611 37565611 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000300651.6:c.2863G>A p.Gly955Ser p.G955S ENST00000300651 NM_004774.3 955 Ggt/Agt 0 Missense_Mutation C 22 MED1 SNP 17 C T 34819137 34819137 Broad FCGBP 8857 broad.mit.edu GRCh37 19 40362795 40362795 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000221347.6:c.15275G>A p.Arg5092His p.R5092H ENST00000221347 NM_003890.2 5092 cGc/cAc 0 Missense_Mutation C 27 FCGBP SNP 19 C T 45054635 45054635 Broad MRPS5 64969 broad.mit.edu GRCh37 2 95766251 95766251 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000272418.2:c.899G>A p.Arg300Lys p.R300K ENST00000272418 NM_031902.3 300 aGg/aAg 0 Missense_Mutation C 24 MRPS5 SNP 2 C T 95129978 95129978 Broad BAZ2B 29994 broad.mit.edu GRCh37 2 160289481 160289481 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000392783.2:c.1687G>A p.Gly563Arg p.G563R ENST00000392783 NM_013450.2 563 Ggg/Agg 0 Missense_Mutation C 24 BAZ2B SNP 2 C T 159997727 159997727 Broad CYP27A1 1593 broad.mit.edu GRCh37 2 219677706 219677706 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000258415.4:c.904C>T p.Pro302Ser p.P302S ENST00000258415 NM_000784.3 302 Cca/Tca 0 Missense_Mutation C 26 CYP27A1 SNP 2 C T 219385950 219385950 Broad ALPP 250 broad.mit.edu GRCh37 2 233245390 233245390 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000392027.2:c.923C>T p.Pro308Leu p.P308L ENST00000392027 NM_001632.3 308 cCc/cTc 0 Missense_Mutation C 22 ALPP SNP 2 C T 232953634 232953634 Broad IL17RC 84818 broad.mit.edu GRCh37 3 9959070 9959070 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000295981.3:c.71T>G p.Leu24Arg p.L24R ENST00000295981 NM_153461.3 24 cTt/cGt 0 Missense_Mutation T 56 IL17RC SNP 3 T G 9934070 9934070 Broad STXBP5L 9515 broad.mit.edu GRCh37 3 120764381 120764381 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000273666.6:c.469C>T p.Arg157Ter p.R157* ENST00000273666 NM_014980.2 157 Cga/Tga 0 Nonsense_Mutation C 19 STXBP5L SNP 3 C T 122247071 122247071 Broad SPATA16 83893 broad.mit.edu GRCh37 3 172643203 172643203 + synonymous_variant Silent SNP C C A novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000351008.3:c.1161G>T p.Gly387= p.G387= ENST00000351008 NM_031955.5 387 ggG/ggT 0 Silent C 18 SPATA16 SNP 3 C A 174125897 174125897 Broad LIPH 200879 broad.mit.edu GRCh37 3 185251383 185251383 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000296252.4:c.502G>A p.Asp168Asn p.D168N ENST00000296252 NM_139248.2 168 Gat/Aat 0 Missense_Mutation C 31 LIPH SNP 3 C T 186734077 186734077 Broad APBB2 323 broad.mit.edu GRCh37 4 40892443 40892443 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000508593.1:c.1467C>T p.Ser489= p.S489= ENST00000508593 489 agC/agT 0 Silent G 38 APBB2 SNP 4 G A 40587200 40587200 Broad ARHGEF38 54848 broad.mit.edu GRCh37 4 106510494 106510495 + missense_variant Missense_Mutation DNP GA GA TT novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000420470.2:c.286_287delinsTT p.Glu96Leu p.E96L ENST00000420470 NM_001242729.1 96 GAa/TTa 0 Missense_Mutation GA 41 ARHGEF38 DNP 4 GA TT 106729944 106729943 Broad S100Z 170591 broad.mit.edu GRCh37 5 76171221 76171221 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000317593.4:c.37A>G p.Ile13Val p.I13V ENST00000317593 NM_130772.3 13 Att/Gtt 0 Missense_Mutation A 12 S100Z SNP 5 A G 76206977 76206977 Broad NMUR2 56923 broad.mit.edu GRCh37 5 151783973 151783973 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000255262.3:c.702C>T p.Val234= p.V234= ENST00000255262 NM_020167.4 234 gtC/gtT 0 Silent G 41 NMUR2 SNP 5 G A 151764166 151764166 Broad LAMA2 3908 broad.mit.edu GRCh37 6 129813141 129813141 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000421865.2:c.7994C>T p.Ala2665Val p.A2665V ENST00000421865 NM_001079823.1 2665 gCt/gTt 0 Missense_Mutation C 28 LAMA2 SNP 6 C T 129854834 129854834 Broad GPNMB 10457 broad.mit.edu GRCh37 7 23313832 23313832 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000381990.2:c.1708G>C p.Gly570Arg p.G570R ENST00000381990 NM_002510.2 570 Gga/Cga 0 Missense_Mutation G 35 GPNMB SNP 7 G C 23280357 23280357 Broad ABCB1 5243 broad.mit.edu GRCh37 7 87170747 87170747 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000265724.3:c.2245C>T p.Arg749Ter p.R749* ENST00000265724 NM_000927.4 749 Cga/Tga 0 Nonsense_Mutation G 40 ABCB1 SNP 7 G A 87008683 87008683 Broad EIF4EBP1 1978 broad.mit.edu GRCh37 8 37914744 37914744 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000338825.4:c.291C>A p.His97Gln p.H97Q ENST00000338825 NM_004095.3 97 caC/caA 0 Missense_Mutation C 18 EIF4EBP1 SNP 8 C A 38033901 38033901 Broad KIF24 347240 broad.mit.edu GRCh37 9 34257952 34257952 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000379166.2:c.1653G>A p.Lys551= p.K551= ENST00000379166 NM_194313.2 551 aaG/aaA 0 Silent C 20 KIF24 SNP 9 C T 34247952 34247952 Broad LPAR1 1902 broad.mit.edu GRCh37 9 113637932 113637932 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000374431.3:c.864C>T p.Asp288= p.D288= ENST00000374431 NM_057159.2 288 gaC/gaT 0 Silent G 40 LPAR1 SNP 9 G A 112677753 112677753 Broad HUWE1 10075 broad.mit.edu GRCh37 X 53571652 53571652 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000342160.3:c.11120T>A p.Leu3707Gln p.L3707Q ENST00000342160 3707 cTg/cAg 0 Missense_Mutation A 7 HUWE1 SNP 23 A T 53588377 53588377 Broad TEX11 56159 broad.mit.edu GRCh37 X 69826840 69826840 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000395889.2:c.1964T>C p.Met655Thr p.M655T ENST00000395889 NM_001003811.1 655 aTg/aCg 0 Missense_Mutation A 8 TEX11 SNP 23 A G 69743565 69743565 Broad COL4A6 1288 broad.mit.edu GRCh37 X 107431205 107431205 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000372216.4:c.1643C>A p.Pro548Gln p.P548Q ENST00000372216 NM_001847.2 548 cCa/cAa 0 Missense_Mutation G 47 COL4A6 SNP 23 G T 107317861 107317861 Broad NKRF 55922 broad.mit.edu GRCh37 X 118723741 118723741 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000542113.1:c.1692C>T p.Ile564= p.I564= ENST00000542113 NM_001173487.1 564 atC/atT 0 Silent G 45 NKRF SNP 23 G A 118607769 118607769 Broad MAP7D3 79649 broad.mit.edu GRCh37 X 135302950 135302950 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0926-01 TCGA-10-0926-11 Unknown Unknown Unknown x x x ENST00000316077.9:c.2460C>A p.Asp820Glu p.D820E ENST00000316077 NM_024597.3 820 gaC/gaA 0 Missense_Mutation G 48 MAP7D3 SNP 23 G T 135130616 135130616 Broad ACAD10 80724 hgsc.bcm.edu GRCh37 12 112193479 112193479 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000455480.2:c.3062C>T p.Ala1021Val p.A1021V ENST00000455480 NM_001136538.1 1021 gCc/gTc 0 Missense_Mutation C 26 ACAD10 SNP 12 C T 110677862 110677862 Baylor ACTR1A 10121 hgsc.bcm.edu GRCh37 10 104240898 104240898 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369905.4:c.1019C>G p.Thr340Arg p.T340R ENST00000369905 NM_005736.3 340 aCg/aGg 0 Missense_Mutation G 40 ACTR1A SNP 10 G C 104230888 104230888 Baylor ACVR1C 130399 hgsc.bcm.edu GRCh37 2 158390527 158390527 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000243349.8:c.1385G>A p.Arg462His p.R462H ENST00000243349 NM_001111032.1 462 cGt/cAt 0 Missense_Mutation C 19 ACVR1C SNP 2 C T 158098773 158098773 Baylor ANKRD55 79722 hgsc.bcm.edu GRCh37 5 55455707 55455707 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000341048.4:c.436C>A p.Leu146Met p.L146M ENST00000341048 NM_024669.2 146 Ctg/Atg 0 Missense_Mutation G 35 ANKRD55 SNP 5 G T 55491464 55491464 Baylor ARFGAP1 55738 hgsc.bcm.edu GRCh37 20 61907467 61907467 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000353546.3:c.85A>G p.Asn29Asp p.N29D ENST00000353546 NM_175609.2 29 Aat/Gat 0 Missense_Mutation A 5 ARFGAP1 SNP 20 A G 61377912 61377912 Baylor ARMCX2 9823 hgsc.bcm.edu GRCh37 X 100911501 100911501 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328766.5:c.1074C>G p.Thr358= p.T358= ENST00000328766 NM_014782.5 358 acC/acG 0 Silent G 43 ARMCX2 SNP 23 G C 100798157 100798157 Baylor ASTL 431705 hgsc.bcm.edu GRCh37 2 96801092 96801094 + inframe_deletion,splice_region_variant In_Frame_Del DEL GCC GCC - novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 GCC GCC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000342380.2:c.239_241del p.Arg80del p.R80del ENST00000342380 NM_001002036.3 80 cGGCcg/ccg 0 In_Frame_Del GCC 42 ASTL DEL 2 GCC - 96164821 96164819 Baylor ATP2A3 489 hgsc.bcm.edu GRCh37 17 3831274 3831274 + splice_donor_variant Splice_Site SNP C C G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359983.3:c.3139+1G>C p.X1047_splice ENST00000359983 0 Splice_Site_SNP C 18 ATP2A3 SNP 17 C G 3778023 3778023 Baylor BIK 638 hgsc.bcm.edu GRCh37 22 43520091 43520091 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000216115.2:c.63C>G p.Leu21= p.L21= ENST00000216115 NM_001197.4 21 ctC/ctG 0 Silent C 30 BIK SNP 22 C G 41850035 41850035 Baylor LAMTOR1 55004 hgsc.bcm.edu GRCh37 11 71809888 71809888 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000278671.5:c.205T>A p.Ser69Thr p.S69T ENST00000278671 NM_017907.2 69 Tct/Act 0 Missense_Mutation A 10 C11orf59 SNP 11 A T 71487536 71487536 Baylor IRF2BPL 64207 hgsc.bcm.edu GRCh37 14 77493549 77493549 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000238647.3:c.587C>T p.Pro196Leu p.P196L ENST00000238647 NM_024496.3 196 cCa/cTa 0 Missense_Mutation G 47 C14orf4 SNP 14 G A 76563302 76563302 Baylor CCDC178 374864 hgsc.bcm.edu GRCh37 18 30847180 30847180 + missense_variant Missense_Mutation SNP C C T rs58448816 Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000383096.3:c.1258G>A p.Asp420Asn p.D420N ENST00000383096 420 Gat/Aat 0 Missense_Mutation C 29 C18orf34 SNP 18 C T 29101178 29101178 Baylor SSUH2 51066 hgsc.bcm.edu GRCh37 3 8672591 8672591 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000544814.1:c.425G>T p.Arg142Ile p.R142I ENST00000544814 NM_001256748.1 142 aGa/aTa 0 Missense_Mutation C 32 C3orf32 SNP 3 C A 8647591 8647591 Baylor CASS4 57091 hgsc.bcm.edu GRCh37 20 55012466 55012466 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371336.3:c.283G>A p.Glu95Lys p.E95K ENST00000371336 NM_001164114.1 95 Gag/Aag 0 Missense_Mutation G 33 CASS4 SNP 20 G A 54445873 54445873 Baylor CDC27 996 hgsc.bcm.edu GRCh37 17 45216162 45216162 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000531206.1:c.1665T>G p.Asp555Glu p.D555E ENST00000531206 555 gaT/gaG 0 Missense_Mutation A 8 CDC27 SNP 17 C C 42571161 42571161 Baylor CELA3A 10136 hgsc.bcm.edu GRCh37 1 22333880 22333880 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000290122.3:c.514C>A p.Pro172Thr p.P172T ENST00000290122 NM_005747.4 172 Cca/Aca 0 Missense_Mutation C 22 CELA3A SNP 1 C A 22206467 22206467 Baylor CLCN2 1181 hgsc.bcm.edu GRCh37 3 184070929 184070929 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265593.4:c.2035A>T p.Thr679Ser p.T679S ENST00000265593 NM_004366.5 679 Aca/Tca 0 Missense_Mutation T 59 CLCN2 SNP 3 T A 185553623 185553623 Baylor CNTNAP1 8506 hgsc.bcm.edu GRCh37 17 40837237 40837237 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264638.4:c.514G>T p.Ala172Ser p.A172S ENST00000264638 NM_003632.2 172 Gcc/Tcc 0 Missense_Mutation G 42 CNTNAP1 SNP 17 G T 38090763 38090763 Baylor CPT1B 1375 hgsc.bcm.edu GRCh37 22 51012845 51012845 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360719.2:c.889del p.Met297TrpfsTer5 p.M297Wfs*5 ENST00000360719 NM_001145135.1 297 Atg/tg 0 Frame_Shift_Del T 50 CPT1B DEL 22 T - 49359711 49359711 Baylor CREG2 200407 hgsc.bcm.edu GRCh37 2 101967422 101967422 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000324768.5:c.836G>A p.Arg279Lys p.R279K ENST00000324768 NM_153836.3 279 aGg/aAg 0 Missense_Mutation C 24 CREG2 SNP 2 C T 101333854 101333854 Baylor CTSF 8722 hgsc.bcm.edu GRCh37 11 66333351 66333352 + frameshift_variant Frame_Shift_Del DEL CT CT - novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 CT CT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310325.5:c.914_915del p.Glu305GlyfsTer15 p.E305Gfs*15 ENST00000310325 NM_003793.3 305 gAG/g 0 Frame_Shift_Del CT 24 CTSF DEL 11 CT - 66089928 66089927 Baylor DLL4 54567 hgsc.bcm.edu GRCh37 15 41228906 41228906 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000249749.5:c.1721T>G p.Phe574Cys p.F574C ENST00000249749 NM_019074.3 574 tTc/tGc 0 Missense_Mutation T 62 DLL4 SNP 15 T G 39016198 39016198 Baylor DNAJC10 54431 hgsc.bcm.edu GRCh37 2 183605072 183605072 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264065.7:c.1034A>G p.His345Arg p.H345R ENST00000264065 NM_018981.2 345 cAt/cGt 0 Missense_Mutation A 8 DNAJC10 SNP 2 A G 183313317 183313317 Baylor DUOX1 53905 hgsc.bcm.edu GRCh37 15 45426426 45426426 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000321429.4:c.226C>G p.Arg76Gly p.R76G ENST00000321429 NM_017434.3 76 Cga/Gga 0 Missense_Mutation C 23 DUOX1 SNP 15 C G 43213718 43213718 Baylor EGFR 1956 hgsc.bcm.edu GRCh37 7 55249017 55249017 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000275493.2:c.2315C>G p.Pro772Arg p.P772R ENST00000275493 NM_005228.3 772 cCc/cGc 0 Missense_Mutation C 22 EGFR SNP 7 C G 55216511 55216511 Baylor EVI2B 2124 hgsc.bcm.edu GRCh37 17 29632368 29632368 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000330927.4:c.260C>T p.Thr87Ile p.T87I ENST00000330927 NM_006495.3 87 aCc/aTc 0 Missense_Mutation G 44 EVI2B SNP 17 G A 26656494 26656494 Baylor FAM13C 220965 hgsc.bcm.edu GRCh37 10 61112126 61112126 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373868.2:c.228G>C p.Val76= p.V76= ENST00000373868 NM_198215.3 76 gtG/gtC 0 Silent C 21 FAM13C SNP 10 C G 60782132 60782132 Baylor FBXO30 84085 hgsc.bcm.edu GRCh37 6 146125581 146125581 + missense_variant Missense_Mutation SNP C C T rs35721211 Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000237281.4:c.1961G>A p.Arg654His p.R654H ENST00000237281 NM_032145.4 654 cGt/cAt 0 Missense_Mutation C 19 FBXO30 SNP 6 C T 146167274 146167274 Baylor FCRL1 115350 hgsc.bcm.edu GRCh37 1 157772278 157772278 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368176.3:c.496G>A p.Ala166Thr p.A166T ENST00000368176 NM_001159398.1 166 Gca/Aca 0 Missense_Mutation C 28 FCRL1 SNP 1 C T 156038902 156038902 Baylor FKBPL 63943 hgsc.bcm.edu GRCh37 6 32096575 32096575 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375156.3:c.983A>T p.Lys328Met p.K328M ENST00000375156 NM_022110.3 328 aAg/aTg 0 Missense_Mutation T 56 FKBPL SNP 6 T A 32204553 32204553 Baylor FKBPL 63943 hgsc.bcm.edu GRCh37 6 32096839 32096839 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375156.3:c.719T>C p.Leu240Pro p.L240P ENST00000375156 NM_022110.3 240 cTc/cCc 0 Missense_Mutation A 11 FKBPL SNP 6 A G 32204817 32204817 Baylor ARHGEF37 389337 hgsc.bcm.edu GRCh37 5 149011739 149011739 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000333677.6:c.2013G>A p.Trp671Ter p.W671* ENST00000333677 NM_001001669.2 671 tgG/tgA 0 Nonsense_Mutation G 41 ARHGEF37 SNP 5 G A 148991932 148991932 Baylor MROH5 389690 hgsc.bcm.edu GRCh37 8 142477553 142477553 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000430863.1:c.2268A>G p.Ala756= p.A756= ENST00000430863 NM_207414.2 756 gcA/gcG 0 Silent T 55 FLJ43860 SNP 8 T C 142546735 142546735 Baylor CMTR1 23070 hgsc.bcm.edu GRCh37 6 37429339 37429339 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373451.4:c.1110G>C p.Glu370Asp p.E370D ENST00000373451 NM_015050.2 370 gaG/gaC 0 Missense_Mutation G 35 FTSJD2 SNP 6 G C 37537317 37537317 Baylor GABRA1 2554 hgsc.bcm.edu GRCh37 5 161300148 161300148 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000428797.2:c.281G>A p.Arg94His p.R94H ENST00000428797 NM_001127643.1 94 cGt/cAt 0 Missense_Mutation G 40 GABRA1 SNP 5 G A 161232726 161232726 Baylor GALE 2582 hgsc.bcm.edu GRCh37 1 24124642 24124642 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374497.3:c.316A>G p.Arg106Gly p.R106G ENST00000374497 NM_001008216.1 106 Aga/Gga 0 Missense_Mutation T 55 GALE SNP 1 T C 23997229 23997229 Baylor HSF5 124535 hgsc.bcm.edu GRCh37 17 56540187 56540187 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000323777.3:c.1498T>A p.Ser500Thr p.S500T ENST00000323777 NM_001080439.1 500 Tca/Aca 0 Missense_Mutation A 9 HSF5 SNP 17 A T 53895186 53895186 Baylor IRS1 3667 hgsc.bcm.edu GRCh37 2 227661263 227661263 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000305123.5:c.2192A>G p.Asp731Gly p.D731G ENST00000305123 NM_005544.2 731 gAc/gGc 0 Missense_Mutation T 58 IRS1 SNP 2 T C 227369507 227369507 Baylor IRS1 3667 hgsc.bcm.edu GRCh37 2 227661266 227661267 + frameshift_variant Frame_Shift_Del DEL CC CC - novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 CC CC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000305123.5:c.2188_2189del p.Gly730Ter p.G730* ENST00000305123 NM_005544.2 730 GGt/t 0 Frame_Shift_Del CC 18 IRS1 DEL 2 CC - 227369511 227369510 Baylor IRS1 3667 hgsc.bcm.edu GRCh37 2 227661481 227661481 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000305123.5:c.1974C>A p.Asp658Glu p.D658E ENST00000305123 NM_005544.2 658 gaC/gaA 0 Missense_Mutation G 44 IRS1 SNP 2 G T 227369725 227369725 Baylor IRS1 3667 hgsc.bcm.edu GRCh37 2 227661486 227661486 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000305123.5:c.1969G>A p.Val657Met p.V657M ENST00000305123 NM_005544.2 657 Gtg/Atg 0 Missense_Mutation C 20 IRS1 SNP 2 C T 227369730 227369730 Baylor JAGN1 84522 hgsc.bcm.edu GRCh37 3 9934740 9934740 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000307768.4:c.231G>A p.Pro77= p.P77= ENST00000307768 NM_032492.3 77 ccG/ccA 0 Silent G 40 JAGN1 SNP 3 G A 9909740 9909740 Baylor KANK4 163782 hgsc.bcm.edu GRCh37 1 62739951 62739951 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371153.4:c.825G>C p.Val275= p.V275= ENST00000371153 NM_181712.4 275 gtG/gtC 0 Silent C 17 KANK4 SNP 1 C G 62512539 62512539 Baylor KCNA1 3736 hgsc.bcm.edu GRCh37 12 5021069 5021069 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000382545.3:c.525G>A p.Met175Ile p.M175I ENST00000382545 NM_000217.2 175 atG/atA 0 Missense_Mutation G 47 KCNA1 SNP 12 G A 4891330 4891330 Baylor KRT6A 3853 hgsc.bcm.edu GRCh37 12 52882327 52882327 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000330722.6:c.1209C>T p.Ala403= p.A403= ENST00000330722 NM_005554.3 403 gcC/gcT 0 Silent G 47 KRT6A SNP 12 G A 51168594 51168594 Baylor KRT9 3857 hgsc.bcm.edu GRCh37 17 39726212 39726212 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000246662.4:c.781C>T p.Arg261Trp p.R261W ENST00000246662 NM_000226.3 261 Cgg/Tgg 0 Missense_Mutation G 38 KRT9 SNP 17 G A 36979738 36979738 Baylor LDLR 3949 hgsc.bcm.edu GRCh37 19 11238730 11238730 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000558518.1:c.2358C>A p.Ser786Arg p.S786R ENST00000558518 NM_001195798.1 786 agC/agA 0 Missense_Mutation C 27 LDLR SNP 19 C A 11099730 11099730 Baylor MLX 6945 hgsc.bcm.edu GRCh37 17 40720868 40720868 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000246912.4:c.345del p.Ser115ArgfsTer94 p.S115Rfs*94 ENST00000246912 NM_170607.2 115 agT/ag 0 Frame_Shift_Del T 59 MLX DEL 17 T - 37974394 37974394 Baylor MTL5 9633 hgsc.bcm.edu GRCh37 11 68512557 68512557 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000255087.5:c.653G>C p.Gly218Ala p.G218A ENST00000255087 NM_004923.3 218 gGc/gCc 0 Missense_Mutation C 26 MTL5 SNP 11 C G 68269133 68269133 Baylor MYO7B 4648 hgsc.bcm.edu GRCh37 2 128345993 128345993 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000428314.1:c.1717C>G p.Leu573Val p.L573V ENST00000428314 NM_001080527.1 573 Ctg/Gtg 0 Missense_Mutation C 28 MYO7B SNP 2 C G 128062463 128062463 Baylor NBPF1 55672 hgsc.bcm.edu GRCh37 1 16892256 16892256 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000430580.2:c.2936A>G p.Gln979Arg p.Q979R ENST00000430580 NM_017940.4 979 cAg/cGg 0 Missense_Mutation T 55 NBPF1 SNP 1 T C 16764843 16764843 Baylor NGB 58157 hgsc.bcm.edu GRCh37 14 77732927 77732927 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000298352.4:c.408C>A p.Leu136= p.L136= ENST00000298352 NM_021257.3 136 ctC/ctA 0 Silent G 33 NGB SNP 14 G T 76802680 76802680 Baylor NLGN4X 57502 hgsc.bcm.edu GRCh37 X 5821716 5821716 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381095.3:c.1003A>G p.Thr335Ala p.T335A ENST00000381095 NM_181332.1 335 Acc/Gcc 0 Missense_Mutation T 59 NLGN4X SNP 23 T C 5831716 5831716 Baylor NTRK3 4916 hgsc.bcm.edu GRCh37 15 88576170 88576170 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360948.2:c.1503G>C p.Val501= p.V501= ENST00000360948 NM_001012338.2 501 gtG/gtC 0 Silent C 21 NTRK3 SNP 15 C G 86377174 86377174 Baylor OLFML2A 169611 hgsc.bcm.edu GRCh37 9 127572687 127572687 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373580.3:c.1955T>C p.Val652Ala p.V652A ENST00000373580 NM_182487.2 652 gTc/gCc 0 Missense_Mutation T 58 OLFML2A SNP 9 T C 126612508 126612508 Baylor OR11A1 26531 hgsc.bcm.edu GRCh37 6 29394572 29394572 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377149.1:c.847A>T p.Thr283Ser p.T283S ENST00000377149 283 Acc/Tcc 0 Missense_Mutation T 59 OR11A1 SNP 6 T A 29502551 29502551 Baylor OR8B2 26595 hgsc.bcm.edu GRCh37 11 124253129 124253129 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375013.2:c.111C>A p.Val37= p.V37= ENST00000375013 NM_001005468.1 37 gtC/gtA 0 Silent G 45 OR8B2 SNP 11 G T 123758339 123758339 Baylor PCDHGB4 8641 hgsc.bcm.edu GRCh37 5 140769843 140769843 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000519479.1:c.2392C>G p.His798Asp p.H798D ENST00000519479 NM_003736.2 798 Cat/Gat 0 Missense_Mutation C 21 PCDHGB4 SNP 5 C G 140750027 140750027 Baylor PDE4C 5143 hgsc.bcm.edu GRCh37 19 18321934 18321934 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355502.3:c.1944C>T p.Pro648= p.P648= ENST00000355502 648 ccC/ccT 0 Silent G 39 PDE4C SNP 19 G A 18182934 18182934 Baylor PNMA3 29944 hgsc.bcm.edu GRCh37 X 152226780 152226780 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000447306.1:c.1368C>A p.Ser456Arg p.S456R ENST00000447306 NM_013364.4 456 agC/agA 0 Missense_Mutation C 26 PNMA3 SNP 23 C A 151977436 151977436 Baylor POLI 11201 hgsc.bcm.edu GRCh37 18 51797772 51797772 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000579534.1:c.158G>C p.Arg53Thr p.R53T ENST00000579534 NM_007195.2 53 aGa/aCa 0 Missense_Mutation G 33 POLI SNP 18 G C 50051770 50051770 Baylor PTN 5764 hgsc.bcm.edu GRCh37 7 136939642 136939642 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000348225.2:c.79G>A p.Val27Met p.V27M ENST00000348225 NM_002825.5 27 Gtg/Atg 0 Missense_Mutation C 17 PTN SNP 7 C T 136590182 136590182 Baylor PTPRS 5802 hgsc.bcm.edu GRCh37 19 5222817 5222817 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357368.4:c.2986A>G p.Thr996Ala p.T996A ENST00000357368 NM_002850.3 996 Acg/Gcg 0 Missense_Mutation T 59 PTPRS SNP 19 T C 5173817 5173817 Baylor RASAL1 8437 hgsc.bcm.edu GRCh37 12 113544933 113544934 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000546530.1:c.1628dup p.Asp544GlyfsTer10 p.D544Gfs*10 ENST00000546530 NM_004658.2 543 ctg/ctTg 0 Frame_Shift_Ins - 21 RASAL1 INS 12 - A 112029317 112029316 Baylor SCAF8 22828 hgsc.bcm.edu GRCh37 6 155154016 155154016 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367178.3:c.3303G>T p.Glu1101Asp p.E1101D ENST00000367178 NM_014892.3 1101 gaG/gaT 0 Missense_Mutation G 33 RBM16 SNP 6 G T 155195708 155195708 Baylor RBM18 92400 hgsc.bcm.edu GRCh37 9 125014167 125014167 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000417201.3:c.199C>G p.Gln67Glu p.Q67E ENST00000417201 NM_033117.3 67 Cag/Gag 0 Missense_Mutation G 48 RBM18 SNP 9 G C 124053988 124053988 Baylor RC3H1 149041 hgsc.bcm.edu GRCh37 1 173952739 173952739 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367696.2:c.409C>G p.Leu137Val p.L137V ENST00000367696 137 Ctt/Gtt 0 Missense_Mutation G 34 RC3H1 SNP 1 G C 172219362 172219362 Baylor RNF25 64320 hgsc.bcm.edu GRCh37 2 219532686 219532686 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295704.2:c.306C>G p.Gly102= p.G102= ENST00000295704 NM_022453.2 102 ggC/ggG 0 Silent G 42 RNF25 SNP 2 G C 219240930 219240930 Baylor RRAS 6237 hgsc.bcm.edu GRCh37 19 50140343 50140343 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000246792.3:c.198C>G p.Tyr66Ter p.Y66* ENST00000246792 NM_006270.3 66 taC/taG 0 Nonsense_Mutation G 48 RRAS SNP 19 G C 54832155 54832155 Baylor SALL2 6297 hgsc.bcm.edu GRCh37 14 21990979 21990979 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000327430.3:c.2883G>A p.Leu961= p.L961= ENST00000327430 NM_005407.1 961 ctG/ctA 0 Silent C 21 SALL2 SNP 14 C T 21060819 21060819 Baylor SAMD11 148398 hgsc.bcm.edu GRCh37 1 874465 874466 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000342066.3:c.477dup p.Asp160ArgfsTer47 p.D160Rfs*47 ENST00000342066 NM_152486.2 159 agc/agCc 0 Frame_Shift_Ins - 34 SAMD11 INS 1 - C 864329 864328 Baylor SCAMP4 113178 hgsc.bcm.edu GRCh37 19 1917795 1917795 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000316097.8:c.110T>A p.Val37Glu p.V37E ENST00000316097 NM_079834.2 37 gTg/gAg 0 Missense_Mutation T 59 SCAMP4 SNP 19 T A 1868795 1868795 Baylor SERPINB10 5273 hgsc.bcm.edu GRCh37 18 61587044 61587044 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000238508.3:c.395C>T p.Thr132Ile p.T132I ENST00000238508 NM_005024.1 132 aCa/aTa 0 Missense_Mutation C 17 SERPINB10 SNP 18 C T 59738024 59738024 Baylor SF3B4 10262 hgsc.bcm.edu GRCh37 1 149895759 149895760 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000271628.8:c.1060dupC p.Arg354ProfsTer132 p.R354Pfs*132 ENST00000271628 NM_005850.4 354 cga/cCga 0 Frame_Shift_Ins - 31 SF3B4 INS 1 - G 148162384 148162383 Baylor SLC17A7 57030 hgsc.bcm.edu GRCh37 19 49935787 49935787 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000221485.3:c.1139del p.Met380ArgfsTer31 p.M380Rfs*31 ENST00000221485 NM_020309.3 380 aTg/ag 0 Frame_Shift_Del A 8 SLC17A7 DEL 19 A - 54627599 54627599 Baylor SLC4A4 8671 hgsc.bcm.edu GRCh37 4 72412099 72412099 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000425175.1:c.2475G>A p.Trp825Ter p.W825* ENST00000425175 NM_001134742.1 825 tgG/tgA 0 Nonsense_Mutation G 43 SLC4A4 SNP 4 G A 72630963 72630963 Baylor SNPH 9751 hgsc.bcm.edu GRCh37 20 1285810 1285810 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381873.3:c.597G>A p.Glu199= p.E199= ENST00000381873 NM_014723.2 199 gaG/gaA 0 Silent G 36 SNPH SNP 20 G A 1233810 1233810 Baylor SNRNP200 23020 hgsc.bcm.edu GRCh37 2 96951025 96951025 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000323853.5:c.4057G>C p.Gly1353Arg p.G1353R ENST00000323853 NM_014014.4 1353 Ggc/Cgc 0 Missense_Mutation C 22 SNRNP200 SNP 2 C G 96314752 96314752 Baylor SPIN3 169981 hgsc.bcm.edu GRCh37 X 57020662 57020662 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374919.3:c.719del p.Phe240SerfsTer16 p.F240Sfs*16 ENST00000374919 NM_001010862.2 240 tTc/tc 0 Frame_Shift_Del A 9 SPIN3 DEL 23 A - 57037387 57037387 Baylor SPTBN1 6711 hgsc.bcm.edu GRCh37 2 54870202 54870202 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356805.4:c.3941T>A p.Leu1314Ter p.L1314* ENST00000356805 NM_003128.2 1314 tTg/tAg 0 Nonsense_Mutation T 63 SPTBN1 SNP 2 T A 54723706 54723706 Baylor STMN3 50861 hgsc.bcm.edu GRCh37 20 62275198 62275198 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370053.1:c.202A>G p.Ser68Gly p.S68G ENST00000370053 NM_015894.3 68 Agc/Ggc 0 Missense_Mutation T 54 STMN3 SNP 20 T C 61745642 61745642 Baylor STON1-GTF2A1L 286749 hgsc.bcm.edu GRCh37 2 48848422 48848422 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000394754.1:c.2352G>A p.Ser784= p.S784= ENST00000394754 NM_172311.2 784 tcG/tcA 0 Silent G 40 STON1-GTF2A1L SNP 2 G A 48701926 48701926 Baylor STRADA 92335 hgsc.bcm.edu GRCh37 17 61781806 61781806 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000336174.6:c.995C>T p.Pro332Leu p.P332L ENST00000336174 NM_001003787.2 332 cCc/cTc 0 Missense_Mutation G 43 STRADA SNP 17 G A 59135538 59135538 Baylor SVEP1 79987 hgsc.bcm.edu GRCh37 9 113308525 113308525 + synonymous_variant Silent SNP T T A rs41305611 Unknown TCGA-13-0919-01 TCGA-13-0919-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000401783.2:c.834A>T p.Ser278= p.S278= ENST00000401783 NM_153366.3 278 tcA/tcT 0 Silent T 51 SVEP1 SNP 9 T A 112348346 112348346 Baylor TEX14 56155 hgsc.bcm.edu GRCh37 17 56638929 56638929 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000240361.8:c.4247C>T p.Pro1416Leu p.P1416L ENST00000240361 1416 cCa/cTa 0 Missense_Mutation G 47 TEX14 SNP 17 G A 53993928 53993928 Baylor TOP2A 7153 hgsc.bcm.edu GRCh37 17 38567939 38567939 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000423485.1:c.921C>G p.Gly307= p.G307= ENST00000423485 NM_001067.3 307 ggC/ggG 0 Silent G 34 TOP2A SNP 17 G C 35821465 35821465 Baylor TOPBP1 11073 hgsc.bcm.edu GRCh37 3 133358869 133358869 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000260810.5:c.2167G>C p.Glu723Gln p.E723Q ENST00000260810 NM_007027.3 723 Gag/Cag 0 Missense_Mutation C 30 TOPBP1 SNP 3 C G 134841559 134841559 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578461 7578461 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269305.4:c.469G>T p.Val157Phe p.V157F ENST00000269305 NM_001126112.2 157 Gtc/Ttc 0 Missense_Mutation C 19 TP53 SNP 17 C A 7519186 7519186 Baylor TYROBP 7305 hgsc.bcm.edu GRCh37 19 36398142 36398142 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262629.4:c.254C>G p.Thr85Ser p.T85S ENST00000262629 NM_198125.2 85 aCt/aGt 0 Missense_Mutation G 36 TYROBP SNP 19 G C 41089982 41089982 Baylor VPS13D 55187 hgsc.bcm.edu GRCh37 1 12409403 12409403 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358136.3:c.9403A>G p.Met3135Val p.M3135V ENST00000358136 NM_015378.2 3135 Atg/Gtg 0 Missense_Mutation A 16 VPS13D SNP 1 A G 12331990 12331990 Baylor ZBTB9 221504 hgsc.bcm.edu GRCh37 6 33422977 33422977 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395064.2:c.100C>A p.Leu34Met p.L34M ENST00000395064 NM_152735.3 34 Ctg/Atg 0 Missense_Mutation C 32 ZBTB9 SNP 6 C A 33530955 33530955 Baylor ZFHX3 463 hgsc.bcm.edu GRCh37 16 72991600 72991600 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0919-01 TCGA-13-0919-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000268489.5:c.2445G>C p.Val815= p.V815= ENST00000268489 NM_006885.3 815 gtG/gtC 0 Silent C 21 ZFHX3 SNP 16 C G 71549101 71549101 Baylor NT5C1A 84618 broad.mit.edu GRCh37 1 40126768 40126768 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000235628.1:c.724A>G p.Asn242Asp p.N242D ENST00000235628 NM_032526.1 242 Aac/Gac 0 Missense_Mutation T 62 NT5C1A SNP 1 T C 39899355 39899355 Broad C1orf168 199920 broad.mit.edu GRCh37 1 57189326 57189326 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000343433.6:c.1909A>G p.Lys637Glu p.K637E ENST00000343433 NM_001004303.4 637 Aag/Gag 0 Missense_Mutation T 63 C1orf168 SNP 1 T C 56961914 56961914 Broad PI4KB 5298 broad.mit.edu GRCh37 1 151274713 151274713 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000368875.2:c.1618C>G p.Pro540Ala p.P540A ENST00000368875 NM_002651.2 540 Cct/Gct 0 Missense_Mutation G 41 PI4KB SNP 1 G C 149541337 149541337 Broad CD5L 922 broad.mit.edu GRCh37 1 157803128 157803128 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000368174.4:c.893G>T p.Arg298Leu p.R298L ENST00000368174 NM_005894.2 298 cGg/cTg 0 Missense_Mutation C 23 CD5L SNP 1 C A 156069752 156069752 Broad OR10T2 128360 broad.mit.edu GRCh37 1 158369007 158369007 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000334438.1:c.250G>A p.Val84Ile p.V84I ENST00000334438 NM_001004475.1 84 Gtc/Atc 0 Missense_Mutation C 18 OR10T2 SNP 1 C T 156635631 156635631 Broad FAM71A 149647 broad.mit.edu GRCh37 1 212798536 212798536 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000294829.3:c.317A>T p.Lys106Met p.K106M ENST00000294829 NM_153606.3 106 aAg/aTg 0 Missense_Mutation A 3 FAM71A SNP 1 A T 210865159 210865159 Broad USH2A 7399 broad.mit.edu GRCh37 1 215848347 215848347 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000307340.3:c.12906G>A p.Arg4302= p.R4302= ENST00000307340 NM_206933.2 4302 agG/agA 0 Silent C 30 USH2A SNP 1 C T 213914970 213914970 Broad TRIM58 25893 broad.mit.edu GRCh37 1 248039704 248039704 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000366481.3:c.1374G>A p.Leu458= p.L458= ENST00000366481 NM_015431.3 458 ttG/ttA 0 Silent G 46 TRIM58 SNP 1 G A 246106327 246106327 Broad UPF2 26019 broad.mit.edu GRCh37 10 12039755 12039755 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000356352.2:c.1760C>G p.Ala587Gly p.A587G ENST00000356352 587 gCa/gGa 0 Missense_Mutation G 46 UPF2 SNP 10 G C 12079761 12079761 Broad WAPAL 23063 broad.mit.edu GRCh37 10 88197356 88197356 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000298767.5:c.3517G>C p.Gly1173Arg p.G1173R ENST00000298767 NM_015045.2 1173 Gga/Cga 0 Missense_Mutation C 21 WAPAL SNP 10 C G 88187336 88187336 Broad OPN4 94233 broad.mit.edu GRCh37 10 88419730 88419730 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000372071.2:c.912G>C p.Lys304Asn p.K304N ENST00000372071 NM_001030015.2 304 aaG/aaC 0 Missense_Mutation G 33 OPN4 SNP 10 G C 88409710 88409710 Broad HPSE2 60495 broad.mit.edu GRCh37 10 100904126 100904126 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000370552.3:c.479A>T p.Lys160Ile p.K160I ENST00000370552 NM_021828.4 160 aAa/aTa 0 Missense_Mutation T 64 HPSE2 SNP 10 T A 100894116 100894116 Broad OR51F2 119694 broad.mit.edu GRCh37 11 4843561 4843561 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000322110.5:c.946G>A p.Ala316Thr p.A316T ENST00000322110 NM_001004753.1 316 Gcc/Acc 0 Missense_Mutation G 42 OR51F2 SNP 11 G A 4800137 4800137 Broad ACCS 84680 broad.mit.edu GRCh37 11 44099401 44099401 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000263776.8:c.661G>C p.Gly221Arg p.G221R ENST00000263776 NM_032592.3 221 Ggg/Cgg 0 Missense_Mutation G 47 ACCS SNP 11 G C 44055977 44055977 Broad MS4A1 931 broad.mit.edu GRCh37 11 60230518 60230518 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000534668.1:c.203G>T p.Gly68Val p.G68V ENST00000534668 NM_152866.2 68 gGt/gTt 0 Missense_Mutation G 44 MS4A1 SNP 11 G T 59987094 59987094 Broad FADS2 9415 broad.mit.edu GRCh37 11 61605272 61605272 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000278840.4:c.230C>G p.Pro77Arg p.P77R ENST00000278840 NM_004265.3 77 cCt/cGt 0 Missense_Mutation C 24 FADS2 SNP 11 C G 61361848 61361848 Broad GAB2 9846 broad.mit.edu GRCh37 11 77934516 77934516 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000361507.4:c.1509C>G p.Ser503Arg p.S503R ENST00000361507 NM_080491.2 503 agC/agG 0 Missense_Mutation G 46 GAB2 SNP 11 G C 77612164 77612164 Broad DSCAML1 57453 broad.mit.edu GRCh37 11 117387316 117387316 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000321322.6:c.1829G>T p.Arg610Leu p.R610L ENST00000321322 NM_020693.2 610 cGc/cTc 0 Missense_Mutation C 27 DSCAML1 SNP 11 C A 116892526 116892526 Broad NAV3 89795 broad.mit.edu GRCh37 12 78513480 78513480 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000536525.2:c.3504C>G p.Ser1168Arg p.S1168R ENST00000536525 NM_014903.4 1168 agC/agG 0 Missense_Mutation C 25 NAV3 SNP 12 C G 77037611 77037611 Broad LRRIQ1 84125 broad.mit.edu GRCh37 12 85449556 85449556 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000393217.2:c.985C>T p.Arg329Ter p.R329* ENST00000393217 NM_001079910.1 329 Cga/Tga 0 Nonsense_Mutation C 19 LRRIQ1 SNP 12 C T 83973687 83973687 Broad EP400 57634 broad.mit.edu GRCh37 12 132516556 132516556 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000389561.2:c.5813A>C p.His1938Pro p.H1938P ENST00000389561 NM_015409.4 1938 cAc/cCc 0 Missense_Mutation A 6 EP400 SNP 12 A C 131082509 131082509 Broad SYNE2 23224 broad.mit.edu GRCh37 14 64604641 64604641 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000358025.3:c.14783T>G p.Leu4928Arg p.L4928R ENST00000358025 NM_182914.2 4928 cTg/cGg 0 Missense_Mutation T 55 SYNE2 SNP 14 T G 63674394 63674394 Broad DMXL2 23312 broad.mit.edu GRCh37 15 51828974 51828974 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000543779.2:c.1703T>G p.Ile568Arg p.I568R ENST00000543779 568 aTa/aGa 0 Missense_Mutation A 16 DMXL2 SNP 15 A C 49616266 49616266 Broad MEF2A 4205 broad.mit.edu GRCh37 15 100250958 100250958 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000354410.5:c.1111T>A p.Ser371Thr p.S371T ENST00000354410 NM_005587.2 371 Tct/Act 0 Missense_Mutation T 54 MEF2A SNP 15 T A 98068481 98068481 Broad NTHL1 4913 broad.mit.edu GRCh37 16 2090018 2090018 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000219066.1:c.846G>A p.Leu282= p.L282= ENST00000219066 NM_002528.5 282 ttG/ttA 0 Silent C 21 NTHL1 SNP 16 C T 2030019 2030019 Broad ABCA3 21 broad.mit.edu GRCh37 16 2347484 2347484 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000301732.5:c.2109C>G p.Ile703Met p.I703M ENST00000301732 NM_001089.2 703 atC/atG 0 Missense_Mutation G 33 ABCA3 SNP 16 G C 2287485 2287485 Broad C16orf62 57020 broad.mit.edu GRCh37 16 19584448 19584448 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000438132.3:c.560C>G p.Ser187Cys p.S187C ENST00000438132 NM_020314.5 187 tCc/tGc 0 Missense_Mutation C 30 C16orf62 SNP 16 C G 19491949 19491949 Broad PALB2 79728 broad.mit.edu GRCh37 16 23646759 23646759 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000261584.4:c.1108C>T p.Gln370Ter p.Q370* ENST00000261584 NM_024675.3 370 Cag/Tag 0 Nonsense_Mutation G 45 PALB2 SNP 16 G A 23554260 23554260 Broad MT4 84560 broad.mit.edu GRCh37 16 56602819 56602819 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000219162.3:c.164C>G p.Ser55Ter p.S55* ENST00000219162 NM_032935.2 55 tCa/tGa 0 Nonsense_Mutation C 29 MT4 SNP 16 C G 55160320 55160320 Broad TLDC1 57707 broad.mit.edu GRCh37 16 84523001 84523001 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000343629.6:c.412G>T p.Val138Leu p.V138L ENST00000343629 NM_020947.3 138 Gtg/Ttg 0 Missense_Mutation C 18 KIAA1609 SNP 16 C A 83080502 83080502 Broad OR1D2 4991 broad.mit.edu GRCh37 17 2995765 2995765 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000331459.1:c.526T>A p.Tyr176Asn p.Y176N ENST00000331459 NM_002548.2 176 Tac/Aac 0 Missense_Mutation A 15 OR1D2 SNP 17 A T 2942515 2942515 Broad NLRP1 22861 broad.mit.edu GRCh37 17 5462708 5462708 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000572272.1:c.1308G>A p.Ala436= p.A436= ENST00000572272 436 gcG/gcA 0 Silent C 23 NLRP1 SNP 17 C T 5403432 5403432 Broad CASC3 22794 broad.mit.edu GRCh37 17 38319916 38319916 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000264645.7:c.968G>C p.Arg323Pro p.R323P ENST00000264645 NM_007359.4 323 cGt/cCt 0 Missense_Mutation G 40 CASC3 SNP 17 G C 35573442 35573442 Broad MED13 9969 broad.mit.edu GRCh37 17 60060105 60060105 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000397786.2:c.3259G>C p.Asp1087His p.D1087H ENST00000397786 NM_005121.2 1087 Gac/Cac 0 Missense_Mutation C 32 MED13 SNP 17 C G 57414887 57414887 Broad TRAPPC8 22878 broad.mit.edu GRCh37 18 29412046 29412046 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000283351.4:c.4073+1G>A p.X1358_splice ENST00000283351 NM_014939.3 0 Splice_Site_SNP C 18 TRAPPC8 SNP 18 C T 27666044 27666044 Broad ISYNA1 51477 broad.mit.edu GRCh37 19 18546730 18546730 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000338128.8:c.977C>A p.Thr326Asn p.T326N ENST00000338128 NM_001170938.1 326 aCc/aAc 0 Missense_Mutation G 44 ISYNA1 SNP 19 G T 18407730 18407730 Broad SYNE4 163183 broad.mit.edu GRCh37 19 36498131 36498131 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000324444.3:c.319A>G p.Asn107Asp p.N107D ENST00000324444 NM_001039876.1 107 Aac/Gac 0 Missense_Mutation T 62 C19orf46 SNP 19 T C 41189971 41189971 Broad C2orf53 339779 broad.mit.edu GRCh37 2 27360153 27360153 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000335524.3:c.1045C>G p.Pro349Ala p.P349A ENST00000335524 NM_178553.3 349 Cca/Gca 0 Missense_Mutation G 43 C2orf53 SNP 2 G C 27213657 27213657 Broad PLB1 151056 broad.mit.edu GRCh37 2 28771751 28771751 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000327757.5:c.961G>A p.Glu321Lys p.E321K ENST00000327757 NM_153021.4 321 Gag/Aag 0 Missense_Mutation G 45 PLB1 SNP 2 G A 28625255 28625255 Broad NLRC4 58484 broad.mit.edu GRCh37 2 32477582 32477582 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000404025.2:c.168C>A p.His56Gln p.H56Q ENST00000404025 56 caC/caA 0 Missense_Mutation G 48 NLRC4 SNP 2 G T 32331086 32331086 Broad LRP1B 53353 broad.mit.edu GRCh37 2 141571340 141571340 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000389484.3:c.5245T>C p.Trp1749Arg p.W1749R ENST00000389484 NM_018557.2 1749 Tgg/Cgg 0 Missense_Mutation A 5 LRP1B SNP 2 A G 141287810 141287810 Broad RIF1 55183 broad.mit.edu GRCh37 2 152314273 152314273 + splice_acceptor_variant Splice_Site SNP A A G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000243326.5:c.2653-2A>G p.X885_splice ENST00000243326 0 Splice_Site_SNP A 15 RIF1 SNP 2 A G 152022519 152022519 Broad TTN 7273 broad.mit.edu GRCh37 2 179650397 179650397 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000589042.1:c.2443C>G p.His815Asp p.H815D ENST00000589042 NM_001267550.1 815 Cac/Gac 0 Missense_Mutation G 45 TTN SNP 2 G C 179358642 179358642 Broad SCRT2 85508 broad.mit.edu GRCh37 20 644519 644519 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000246104.6:c.720C>A p.Phe240Leu p.F240L ENST00000246104 NM_033129.3 240 ttC/ttA 0 Missense_Mutation G 37 SCRT2 SNP 20 G T 592519 592519 Broad LRRN4 164312 broad.mit.edu GRCh37 20 6032815 6032816 + missense_variant Missense_Mutation DNP GA GA TC novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000378858.4:c.630_631inv p.Asp210_Leu211delinsGluIle p.D210_L211delinsEI ENST00000378858 NM_152611.4 210 gaTCtc/gaGAtc 0 Missense_Mutation GA 33 LRRN4 DNP 20 GA TC 5980816 5980815 Broad LZTR1 8216 broad.mit.edu GRCh37 22 21344673 21344673 + splice_acceptor_variant Splice_Site SNP A A C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000215739.8:c.652-2A>C p.X218_splice ENST00000215739 NM_006767.3 0 Splice_Site_SNP A 7 LZTR1 SNP 22 A C 19674673 19674673 Broad CCDC116 164592 broad.mit.edu GRCh37 22 21988734 21988734 + missense_variant Missense_Mutation SNP G G C rs35746656 Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000292779.3:c.496G>C p.Ala166Pro p.A166P ENST00000292779 NM_152612.2 166 Gcc/Ccc 0 Missense_Mutation G 42 CCDC116 SNP 22 G C 20318734 20318734 Broad TRIOBP 11078 broad.mit.edu GRCh37 22 38122021 38122021 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000406386.3:c.3458C>G p.Ser1153Cys p.S1153C ENST00000406386 NM_001039141.2 1153 tCt/tGt 0 Missense_Mutation C 32 TRIOBP SNP 22 C G 36451967 36451967 Broad L3MBTL2 83746 broad.mit.edu GRCh37 22 41623859 41623859 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000216237.5:c.1874A>C p.Gln625Pro p.Q625P ENST00000216237 NM_031488.4 625 cAg/cCg 0 Missense_Mutation A 7 L3MBTL2 SNP 22 A C 39953805 39953805 Broad ZC3H7B 23264 broad.mit.edu GRCh37 22 41752364 41752364 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000352645.4:c.2401A>G p.Thr801Ala p.T801A ENST00000352645 NM_017590.5 801 Acc/Gcc 0 Missense_Mutation A 10 ZC3H7B SNP 22 A G 40082310 40082310 Broad MYLK 4638 broad.mit.edu GRCh37 3 123471367 123471367 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000360304.3:c.184C>G p.Pro62Ala p.P62A ENST00000360304 NM_053025.3 62 Ccc/Gcc 0 Missense_Mutation G 42 MYLK SNP 3 G C 124954057 124954057 Broad CHST2 9435 broad.mit.edu GRCh37 3 142839811 142839811 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000309575.3:c.153C>G p.Phe51Leu p.F51L ENST00000309575 NM_004267.4 51 ttC/ttG 0 Missense_Mutation C 30 CHST2 SNP 3 C G 144322501 144322501 Broad SLITRK3 22865 broad.mit.edu GRCh37 3 164906124 164906124 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000475390.1:c.2495C>T p.Thr832Met p.T832M ENST00000475390 832 aCg/aTg 0 Missense_Mutation G 40 SLITRK3 SNP 3 G A 166388818 166388818 Broad KIT 3815 broad.mit.edu GRCh37 4 55573316 55573316 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000288135.5:c.978C>T p.Asn326= p.N326= ENST00000288135 NM_000222.2 326 aaC/aaT 0 Silent C 19 KIT SNP 4 C T 55268073 55268073 Broad NAF1 92345 broad.mit.edu GRCh37 4 164067004 164067004 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000274054.2:c.647C>G p.Ser216Cys p.S216C ENST00000274054 NM_138386.2 216 tCt/tGt 0 Missense_Mutation G 33 NAF1 SNP 4 G C 164286454 164286454 Broad CDH9 1007 broad.mit.edu GRCh37 5 26902612 26902612 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000231021.4:c.1226A>T p.Asp409Val p.D409V ENST00000231021 NM_016279.3 409 gAt/gTt 0 Missense_Mutation T 50 CDH9 SNP 5 T A 26938369 26938369 Broad VCAN 1462 broad.mit.edu GRCh37 5 82835617 82835617 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000265077.3:c.6795T>C p.Thr2265= p.T2265= ENST00000265077 NM_004385.4 2265 acT/acC 0 Silent T 54 VCAN SNP 5 T C 82871373 82871373 Broad FBN2 2201 broad.mit.edu GRCh37 5 127645049 127645049 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000508053.1:c.5243C>T p.Thr1748Ile p.T1748I ENST00000508053 1748 aCt/aTt 0 Missense_Mutation G 36 FBN2 SNP 5 G A 127672948 127672948 Broad PCDHB2 56133 broad.mit.edu GRCh37 5 140474829 140474829 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000194155.4:c.455C>A p.Thr152Asn p.T152N ENST00000194155 NM_018936.2 152 aCt/aAt 0 Missense_Mutation C 20 PCDHB2 SNP 5 C A 140455013 140455013 Broad BTNL9 153579 broad.mit.edu GRCh37 5 180486624 180486624 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000327705.9:c.1370C>T p.Ala457Val p.A457V ENST00000327705 NM_152547.4 457 gCc/gTc 0 Missense_Mutation C 26 BTNL9 SNP 5 C T 180419230 180419230 Broad PGK2 5232 broad.mit.edu GRCh37 6 49754597 49754597 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000304801.3:c.304G>T p.Ala102Ser p.A102S ENST00000304801 NM_138733.4 102 Gca/Tca 0 Missense_Mutation C 27 PGK2 SNP 6 C A 49862556 49862556 Broad CASP8AP2 9994 broad.mit.edu GRCh37 6 90575717 90575717 + non_coding_transcript_exon_variant RNA SNP C C G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000551025.1:n.4145C>G *1382* ENST00000551025 0 Missense_Mutation C 32 CASP8AP2 SNP 6 C G 90632438 90632438 Broad HOXA1 3198 broad.mit.edu GRCh37 7 27134977 27134977 + synonymous_variant Silent SNP G G T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000343060.4:c.555C>A p.Ala185= p.A185= ENST00000343060 NM_005522.4 185 gcC/gcA 0 Silent G 47 HOXA1 SNP 7 G T 27101502 27101502 Broad PSPH 5723 broad.mit.edu GRCh37 7 56079455 56079455 + stop_lost Nonstop_Mutation SNP T T A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000395471.3:c.678A>T p.Ter226TyrextTer39 p.*226Yext*39 ENST00000395471 226 taA/taT 0 Nonstop_Mutation T 60 PSPH SNP 7 T A 56046949 56046949 Broad GAL3ST4 79690 broad.mit.edu GRCh37 7 99758526 99758526 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000360039.4:c.486G>A p.Ala162= p.A162= ENST00000360039 NM_024637.4 162 gcG/gcA 0 Silent C 23 GAL3ST4 SNP 7 C T 99596462 99596462 Broad NUP205 23165 broad.mit.edu GRCh37 7 135269580 135269580 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000285968.6:c.1043C>G p.Ala348Gly p.A348G ENST00000285968 NM_015135.2 348 gCt/gGt 0 Missense_Mutation C 28 NUP205 SNP 7 C G 134920120 134920120 Broad GIMAP4 55303 broad.mit.edu GRCh37 7 150269275 150269275 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000255945.2:c.117C>T p.Thr39= p.T39= ENST00000255945 NM_018326.2 39 acC/acT 0 Silent C 23 GIMAP4 SNP 7 C T 149900208 149900208 Broad CSPP1 79848 broad.mit.edu GRCh37 8 68071346 68071346 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000262210.5:c.2497G>C p.Asp833His p.D833H ENST00000262210 NM_024790.6 833 Gac/Cac 0 Missense_Mutation G 33 CSPP1 SNP 8 G C 68233900 68233900 Broad SULF1 23213 broad.mit.edu GRCh37 8 70498683 70498683 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000260128.4:c.504C>G p.Phe168Leu p.F168L ENST00000260128 NM_015170.2 168 ttC/ttG 0 Missense_Mutation C 32 SULF1 SNP 8 C G 70661237 70661237 Broad RNF19A 25897 broad.mit.edu GRCh37 8 101282199 101282199 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000519449.1:c.926T>A p.Ile309Lys p.I309K ENST00000519449 NM_015435.4 309 aTa/aAa 0 Missense_Mutation A 16 RNF19A SNP 8 A T 101351375 101351375 Broad PKHD1L1 93035 broad.mit.edu GRCh37 8 110504192 110504192 + stop_gained Nonsense_Mutation SNP T T G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000378402.5:c.10205T>G p.Leu3402Ter p.L3402* ENST00000378402 NM_177531.4 3402 tTa/tGa 0 Nonsense_Mutation T 61 PKHD1L1 SNP 8 T G 110573368 110573368 Broad MID1 4281 broad.mit.edu GRCh37 X 10437842 10437842 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000317552.4:c.1180G>C p.Ala394Pro p.A394P ENST00000317552 NM_033289.1 394 Gct/Cct 0 Missense_Mutation C 28 MID1 SNP 23 C G 10397842 10397842 Broad ARAF 369 broad.mit.edu GRCh37 X 47430408 47430408 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000377045.4:c.1683C>T p.Pro561= p.P561= ENST00000377045 NM_001654.4 561 ccC/ccT 0 Silent C 22 ARAF SNP 23 C T 47315352 47315352 Broad KDM5C 8242 broad.mit.edu GRCh37 X 53222650 53222650 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000375401.3:c.4286C>T p.Pro1429Leu p.P1429L ENST00000375401 NM_004187.3 1429 cCa/cTa 0 Missense_Mutation G 47 KDM5C SNP 23 G A 53239375 53239375 Broad NXF2B 728343 broad.mit.edu GRCh37 X 101615533 101615533 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown x x x ENST00000457521.2:c.1870C>A p.Gln624Lys p.Q624K ENST00000457521 624 Caa/Aaa 0 Missense_Mutation G 46 NXF2 SNP 23 G T 101502189 101502189 Broad OVGP1 5016 broad.mit.edu GRCh37 1 111963991 111963992 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000369732.3:c.809dup p.Lys271GlnfsTer4 p.K271Qfs*4 ENST00000369732 NM_002557.3 270 ctc/ctTc 0 Frame_Shift_Ins - 45 OVGP1 INS 1 A - 111765515 111765514 Broad COPB2 9276 broad.mit.edu GRCh37 3 139077948 139077949 + frameshift_variant Frame_Shift_Del DEL TG TG - novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000333188.5:c.2375_2376del p.Thr792ArgfsTer3 p.T792Rfs*3 ENST00000333188 NM_004766.2 792 aCA/a 0 Frame_Shift_Del TG 55 COPB2 DEL 3 - TG 140560639 140560638 Broad ZFPM2 23414 broad.mit.edu GRCh37 8 106815707 106815714 + frameshift_variant Frame_Shift_Del DEL AACTTTAT AACTTTAT - novel Unknown TCGA-09-2056-01 TCGA-09-2056-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000407775.2:c.3401_3408del p.Phe1134SerfsTer18 p.F1134Sfs*18 ENST00000407775 NM_012082.3 1133 AACTTTATa/a 0 Frame_Shift_Del AACTTTAT 1 ZFPM2 DEL 8 - AACTTTAT 106884890 106884883 Broad TMC2 117532 genome.wustl.edu GRCh37 20 2593940 2593940 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1416-01 TCGA-24-1416-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358864.1:c.1844G>A p.Cys615Tyr p.C615Y ENST00000358864 NM_080751.2 615 tGc/tAc 0 Missense_Mutation G 46 TMC2 SNP 20 G A 2541940 2541940 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577094 7577094 + missense_variant Missense_Mutation SNP G G A rs28934574 Unknown TCGA-24-1416-01 TCGA-24-1416-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000269305.4:c.844C>T p.Arg282Trp p.R282W ENST00000269305 NM_001126112.2 282 Cgg/Tgg 0 Missense_Mutation G 39 TP53 SNP 17 A A 7517819 7517819 WashU CSPG5 10675 genome.wustl.edu GRCh37 3 47618974 47618974 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1416-01 TCGA-24-1416-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000383738.2:c.542G>A p.Gly181Asp p.G181D ENST00000383738 NM_001206945.1 181 gGc/gAc 0 Missense_Mutation C 26 CSPG5 SNP 3 C T 47593978 47593978 WashU RAD54L2 23132 genome.wustl.edu GRCh37 3 51696706 51696706 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1416-01 TCGA-24-1416-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000409535.2:c.3674G>T p.Arg1225Leu p.R1225L ENST00000409535 NM_015106.2 1225 cGa/cTa 0 Missense_Mutation G 37 RAD54L2 SNP 3 G T 51671746 51671746 WashU ACTBL2 345651 genome.wustl.edu GRCh37 5 56777653 56777653 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1416-01 TCGA-24-1416-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000423391.1:c.882C>G p.Leu294= p.L294= ENST00000423391 NM_001017992.3 294 ctC/ctG 0 Silent G 33 ACTBL2 SNP 5 G C 56813410 56813410 WashU OR5B21 219968 genome.wustl.edu GRCh37 11 58275343 58275343 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1416-01 TCGA-24-1416-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360374.2:c.236C>T p.Thr79Met p.T79M ENST00000360374 NM_001005218.1 79 aCg/aTg 0 Missense_Mutation G 40 OR5B21 SNP 11 G A 58031919 58031919 WashU DCAF7 10238 genome.wustl.edu GRCh37 17 61662659 61662659 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1416-01 TCGA-24-1416-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000415273.2:c.225C>T p.Ala75= p.A75= ENST00000415273 75 gcC/gcT 0 Missense_Mutation C 22 DCAF7 SNP 17 C T 59016391 59016391 WashU UGT2B11 10720 genome.wustl.edu GRCh37 4 70080154 70080154 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1416-01 TCGA-24-1416-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000446444.1:c.287G>C p.Arg96Thr p.R96T ENST00000446444 NM_001073.1 96 aGa/aCa 0 Missense_Mutation C 32 UGT2B11 SNP 4 C G 70114743 70114743 WashU ROBO2 6092 genome.wustl.edu GRCh37 3 75986695 75986695 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1416-01 TCGA-24-1416-10 G G G A G A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000487694.3:c.51G>A p.Pro17= p.P17= ENST00000487694 NM_001128929.2 17 ccG/ccA 0 Silent G 39 ROBO2 SNP 3 G A 76069385 76069385 WashU CCNG2 901 genome.wustl.edu GRCh37 4 78087044 78087044 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1416-01 TCGA-24-1416-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316355.5:c.1002C>T p.Phe334= p.F334= ENST00000316355 NM_004354.2 334 ttC/ttT 0 Silent C 29 CCNG2 SNP 4 T T 78306068 78306068 WashU RIMS2 9699 genome.wustl.edu GRCh37 8 105025713 105025713 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1416-01 TCGA-24-1416-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000406091.3:c.3088T>G p.Ser1030Ala p.S1030A ENST00000406091 NM_001100117.2 1030 Tca/Gca 0 Missense_Mutation T 50 RIMS2 SNP 8 T G 105094889 105094889 WashU PCDHA3 56145 genome.wustl.edu GRCh37 5 140180972 140180972 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1416-01 TCGA-24-1416-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000522353.2:c.190T>C p.Phe64Leu p.F64L ENST00000522353 NM_018906.2 64 Ttc/Ctc 0 Missense_Mutation T 60 PCDHA3 SNP 5 T C 140161156 140161156 WashU FATE1 89885 genome.wustl.edu GRCh37 X 150890393 150890393 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-1416-01 TCGA-24-1416-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370350.3:c.360A>C p.Ala120= p.A120= ENST00000370350 NM_033085.2 120 gcA/gcC 0 Silent A 7 FATE1 SNP 23 A C 150641049 150641049 WashU PIK3CA 5290 genome.wustl.edu GRCh37 3 178952085 178952085 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1416-01 TCGA-24-1416-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263967.3:c.3140A>G p.His1047Arg p.H1047R ENST00000263967 NM_006218.2 1047 cAt/cGt 0 Missense_Mutation A 8 PIK3CA SNP 3 A G 180434779 180434779 WashU CPS1 1373 genome.wustl.edu GRCh37 2 211460244 211460244 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1416-01 TCGA-24-1416-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000430249.2:c.1315C>T p.Leu439= p.L439= ENST00000430249 NM_001122633.2 439 Ctg/Ttg 0 Silent C 32 CPS1 SNP 2 C T 211168489 211168489 WashU ALPL 249 genome.wustl.edu GRCh37 1 21887655 21887655 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1416-01 TCGA-24-1416-10 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374840.3:c.247G>A p.Glu83Lys p.E83K ENST00000374840 NM_000478.4 83 Gag/Aag 0 Missense_Mutation G 41 ALPL SNP 1 G A 21760242 21760242 WashU HSP90AA1 3320 genome.wustl.edu GRCh37 14 102551266 102551269 + frameshift_variant Frame_Shift_Del DEL TTTC TTTC - Unknown TCGA-24-1416-01 TCGA-24-1416-10 TTTC TTTC TTTC - TTTC TTTC Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000334701.7:c.1096_1099del p.Glu366LysfsTer72 p.E366Kfs*72 ENST00000334701 NM_001017963.2 366 GAAAaa/aa 0 Frame_Shift_Del TTTC 64 HSP90AA1 DEL 14 TTTC - 101621022 101621019 WashU ATP8B3 148229 hgsc.bcm.edu GRCh37 19 1783118 1783118 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310127.6:c.3812G>T p.Arg1271Leu p.R1271L ENST00000310127 NM_138813.3 1271 cGg/cTg 0 Missense_Mutation C 23 ATP8B3 SNP 19 C A 1734118 1734118 Baylor ATP8B4 79895 hgsc.bcm.edu GRCh37 15 50223422 50223422 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000284509.6:c.1536C>T p.Ser512= p.S512= ENST00000284509 NM_024837.3 512 tcC/tcT 0 Silent G 43 ATP8B4 SNP 15 G A 48010714 48010714 Baylor BIRC6 57448 hgsc.bcm.edu GRCh37 2 32693060 32693060 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000421745.2:c.5661G>A p.Trp1887Ter p.W1887* ENST00000421745 NM_016252.3 1887 tgG/tgA 0 Nonsense_Mutation G 43 BIRC6 SNP 2 G A 32546564 32546564 Baylor LSMEM1 286006 hgsc.bcm.edu GRCh37 7 112127076 112127076 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000312849.4:c.226G>A p.Ala76Thr p.A76T ENST00000312849 NM_182597.2 76 Gca/Aca 0 Missense_Mutation G 42 C7orf53 SNP 7 G A 111914312 111914312 Baylor C9orf96 169436 hgsc.bcm.edu GRCh37 9 136265635 136265635 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371957.3:c.1176del p.Leu393CysfsTer28 p.L393Cfs*28 ENST00000371957 NM_153710.4 392 ctG/ct 0 Frame_Shift_Del G 46 C9orf96 DEL 9 G - 135255456 135255456 Baylor CAD 790 hgsc.bcm.edu GRCh37 2 27459284 27459284 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264705.4:c.4207C>T p.Arg1403Trp p.R1403W ENST00000264705 NM_004341.3 1403 Cgg/Tgg 0 Missense_Mutation C 23 CAD SNP 2 C T 27312788 27312788 Baylor DPP4 1803 hgsc.bcm.edu GRCh37 2 162851863 162851863 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360534.3:c.2072G>T p.Arg691Ile p.R691I ENST00000360534 NM_001935.3 691 aGa/aTa 0 Missense_Mutation C 32 DPP4 SNP 2 C A 162560109 162560109 Baylor EBF4 57593 hgsc.bcm.edu GRCh37 20 2686893 2686893 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380648.4:c.385G>A p.Asp129Asn p.D129N ENST00000380648 NM_001110514.1 129 Gac/Aac 0 Missense_Mutation G 37 EBF4 SNP 20 G A 2634893 2634893 Baylor FAAH 2166 hgsc.bcm.edu GRCh37 1 46871724 46871724 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000243167.8:c.800A>T p.Lys267Met p.K267M ENST00000243167 NM_001441.2 267 aAg/aTg 0 Missense_Mutation A 3 FAAH SNP 1 A T 46644311 46644311 Baylor GABRA6 2559 hgsc.bcm.edu GRCh37 5 161128737 161128737 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000274545.5:c.1320T>C p.Tyr440= p.Y440= ENST00000274545 440 taT/taC 0 Silent T 50 GABRA6 SNP 5 T C 161061315 161061315 Baylor GK2 2712 hgsc.bcm.edu GRCh37 4 80327979 80327979 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358842.3:c.1376C>A p.Ala459Asp p.A459D ENST00000358842 NM_033214.2 459 gCt/gAt 0 Missense_Mutation G 34 GK2 SNP 4 G T 80547003 80547003 Baylor GPR162 27239 hgsc.bcm.edu GRCh37 12 6934716 6934716 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311268.3:c.935G>A p.Cys312Tyr p.C312Y ENST00000311268 NM_019858.1 312 tGc/tAc 0 Missense_Mutation G 46 GPR162 SNP 12 G A 6804977 6804977 Baylor GPR50 9248 hgsc.bcm.edu GRCh37 X 150349558 150349569 + inframe_deletion In_Frame_Del DEL CACCACTGGCCA CACCACTGGCCA - novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 CACCACTGGCCA CACCACTGGCCA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000218316.3:c.1505_1516delCCACTGGCCACA p.Thr502_His505del p.T502_H505del ENST00000218316 NM_004224.3 501 ccCACCACTGGCCAc/ccc 0 In_Frame_Del CACCACTGGCCA 21 GPR50 DEL 23 CACCACTGGCCA - 150100227 150100216 Baylor GREB1 9687 hgsc.bcm.edu GRCh37 2 11777870 11777870 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381486.2:c.5375C>T p.Pro1792Leu p.P1792L ENST00000381486 NM_014668.3 1792 cCg/cTg 0 Missense_Mutation C 23 GREB1 SNP 2 C T 11695321 11695321 Baylor GRTP1 79774 hgsc.bcm.edu GRCh37 13 114009663 114009663 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375431.4:c.315C>T p.Pro105= p.P105= ENST00000375431 NM_024719.2 105 ccC/ccT 0 Silent G 47 GRTP1 SNP 13 G A 113057664 113057664 Baylor KCNA5 3741 hgsc.bcm.edu GRCh37 12 5154733 5154734 + frameshift_variant Frame_Shift_Del DEL GC GC - novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 GC GC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000252321.3:c.1420_1421del p.Ala474SerfsTer62 p.A474Sfs*62 ENST00000252321 NM_002234.3 474 GCa/a 0 Frame_Shift_Del GC 42 KCNA5 DEL 12 GC - 5024995 5024994 Baylor CCDC180 100499483 hgsc.bcm.edu GRCh37 9 100071845 100071845 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375202.2:c.351C>A p.Ser117Arg p.S117R ENST00000375202 117 agC/agA 0 Missense_Mutation C 26 KIAA1529 SNP 9 C A 99111666 99111666 Baylor KIR2DL4 3805 hgsc.bcm.edu GRCh37 19 55315144 55315144 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000345540.5:c.38T>A p.Leu13His p.L13H ENST00000345540 NM_001080770.1 13 cTt/cAt 0 Missense_Mutation T 56 KIR2DL4 SNP 19 T A 60006956 60006956 Baylor KIR3DL3 115653 hgsc.bcm.edu GRCh37 19 55239242 55239242 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000291860.1:c.521C>T p.Ala174Val p.A174V ENST00000291860 NM_153443.3 174 gCg/gTg 0 Missense_Mutation C 27 KIR3DL3 SNP 19 C T 59931054 59931054 Baylor KNTC1 9735 hgsc.bcm.edu GRCh37 12 123057772 123057773 + frameshift_variant Frame_Shift_Del DEL AA AA - novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 AA AA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000333479.7:c.2223_2224del p.Ile741MetfsTer8 p.I741Mfs*8 ENST00000333479 NM_014708.4 741 atAAga/atga 0 Frame_Shift_Del AA 13 KNTC1 DEL 12 AA - 121623726 121623725 Baylor MFSD11 79157 hgsc.bcm.edu GRCh37 17 74763467 74763467 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000588460.1:c.683-1G>C p.X228_splice ENST00000588460 NM_001242534.1 0 Splice_Site_SNP G 33 MFSD11 SNP 17 G C 72275062 72275062 Baylor MGA 23269 hgsc.bcm.edu GRCh37 15 42052633 42052633 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000219905.7:c.7304G>A p.Arg2435Gln p.R2435Q ENST00000219905 NM_001164273.1 2435 cGg/cAg 0 Missense_Mutation G 39 MGA SNP 15 G A 39839925 39839925 Baylor MORC3 23515 hgsc.bcm.edu GRCh37 21 37744777 37744777 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000400485.1:c.2614G>A p.Val872Ile p.V872I ENST00000400485 NM_015358.2 872 Gtt/Att 0 Missense_Mutation G 48 MORC3 SNP 21 G A 36666647 36666647 Baylor MTMR3 8897 hgsc.bcm.edu GRCh37 22 30416336 30416338 + inframe_deletion In_Frame_Del DEL GTC GTC - novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 GTC GTC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000401950.2:c.2688_2690del p.Ser897del p.S897del ENST00000401950 NM_021090.3 896 ggGTCt/ggt 0 In_Frame_Del GTC 44 MTMR3 DEL 22 GTC - 28746338 28746336 Baylor MTTP 4547 hgsc.bcm.edu GRCh37 4 100540209 100540209 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000457717.1:c.2296G>T p.Glu766Ter p.E766* ENST00000457717 NM_000253.2 766 Gag/Tag 0 Nonsense_Mutation G 41 MTTP SNP 4 G T 100759232 100759232 Baylor MYH8 4626 hgsc.bcm.edu GRCh37 17 10300030 10300030 + synonymous_variant Silent SNP T T A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000403437.2:c.4368A>T p.Leu1456= p.L1456= ENST00000403437 NM_002472.2 1456 ctA/ctT 0 Silent T 49 MYH8 SNP 17 T A 10240755 10240755 Baylor PCDH20 64881 hgsc.bcm.edu GRCh37 13 61987446 61987446 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000409186.1:c.786G>T p.Glu262Asp p.E262D ENST00000409186 262 gaG/gaT 0 Missense_Mutation C 32 PCDH20 SNP 13 C A 60885447 60885447 Baylor PDGFRB 5159 hgsc.bcm.edu GRCh37 5 149512412 149512412 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261799.4:c.1028A>C p.Tyr343Ser p.Y343S ENST00000261799 NM_002609.3 343 tAc/tCc 0 Missense_Mutation T 57 PDGFRB SNP 5 T G 149492605 149492605 Baylor PLA2G4F 255189 hgsc.bcm.edu GRCh37 15 42442311 42442311 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000382396.4:c.914T>C p.Val305Ala p.V305A ENST00000382396 305 gTg/gCg 0 Missense_Mutation A 6 PLA2G4F SNP 15 A G 40229603 40229603 Baylor PROCR 10544 hgsc.bcm.edu GRCh37 20 33764593 33764593 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000216968.4:c.694T>C p.Cys232Arg p.C232R ENST00000216968 NM_006404.4 232 Tgc/Cgc 0 Missense_Mutation T 59 PROCR SNP 20 T C 33228254 33228254 Baylor PTPRE 5791 hgsc.bcm.edu GRCh37 10 129871627 129871627 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000254667.3:c.1491C>T p.Ile497= p.I497= ENST00000254667 NM_006504.4 497 atC/atT 0 Silent C 31 PTPRE SNP 10 C T 129761617 129761617 Baylor RELN 5649 hgsc.bcm.edu GRCh37 7 103124188 103124188 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000428762.1:c.10093G>A p.Val3365Ile p.V3365I ENST00000428762 NM_005045.3 3365 Gtc/Atc 0 Missense_Mutation C 19 RELN SNP 7 C T 102911424 102911424 Baylor RILP 83547 hgsc.bcm.edu GRCh37 17 1551754 1551754 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000301336.6:c.711G>C p.Glu237Asp p.E237D ENST00000301336 NM_031430.2 237 gaG/gaC 0 Missense_Mutation C 24 RILP SNP 17 C G 1498504 1498504 Baylor RP1L1 94137 hgsc.bcm.edu GRCh37 8 10464476 10464476 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000382483.3:c.7132C>G p.Leu2378Val p.L2378V ENST00000382483 NM_178857.5 2378 Ctc/Gtc 0 Missense_Mutation G 36 RP1L1 SNP 8 G C 10501886 10501886 Baylor RPA1 6117 hgsc.bcm.edu GRCh37 17 1787116 1787116 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000254719.5:c.1252del p.Glu418LysfsTer5 p.E418Kfs*5 ENST00000254719 NM_002945.3 418 Gaa/aa 0 Frame_Shift_Del G 33 RPA1 DEL 17 G - 1733866 1733866 Baylor SERPINA6 866 hgsc.bcm.edu GRCh37 14 94780518 94780518 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000341584.3:c.468G>C p.Leu156Phe p.L156F ENST00000341584 NM_001756.3 156 ttG/ttC 0 Missense_Mutation C 21 SERPINA6 SNP 14 C G 93850271 93850271 Baylor SLC25A46 91137 hgsc.bcm.edu GRCh37 5 110097160 110097160 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355943.3:c.935C>A p.Ala312Asp p.A312D ENST00000355943 NM_138773.1 312 gCt/gAt 0 Missense_Mutation C 28 SLC25A46 SNP 5 C A 110125059 110125059 Baylor SVIL 6840 hgsc.bcm.edu GRCh37 10 29822372 29822372 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375398.2:c.924A>C p.Glu308Asp p.E308D ENST00000375398 308 gaA/gaC 0 Missense_Mutation T 64 SVIL SNP 10 T G 29862378 29862378 Baylor TAF6 6878 hgsc.bcm.edu GRCh37 7 99709614 99709614 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000437822.2:c.840G>T p.Leu280= p.L280= ENST00000437822 NM_001190415.1 280 ctG/ctT 0 Silent C 25 TAF6 SNP 7 C A 99547550 99547550 Baylor TFCP2L1 29842 hgsc.bcm.edu GRCh37 2 122038813 122038813 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263707.5:c.97G>A p.Glu33Lys p.E33K ENST00000263707 NM_014553.2 33 Gaa/Aaa 0 Missense_Mutation C 30 TFCP2L1 SNP 2 C T 121755283 121755283 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578555 7578555 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000269305.4:c.376-1G>A p.X126_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 20 TP53 SNP 17 C T 7519280 7519280 Baylor UBE2M 9040 hgsc.bcm.edu GRCh37 19 59068073 59068073 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000253023.3:c.328G>A p.Val110Ile p.V110I ENST00000253023 NM_003969.3 110 Gtc/Atc 0 Missense_Mutation C 19 UBE2M SNP 19 C T 63759885 63759885 Baylor WDR63 126820 hgsc.bcm.edu GRCh37 1 85564236 85564236 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000294664.6:c.1374G>C p.Glu458Asp p.E458D ENST00000294664 NM_145172.3 458 gaG/gaC 0 Missense_Mutation G 33 WDR63 SNP 1 G C 85336824 85336824 Baylor ZBTB7C 201501 hgsc.bcm.edu GRCh37 18 45567396 45567396 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000588982.1:c.83G>A p.Arg28Gln p.R28Q ENST00000588982 28 cGg/cAg 0 Missense_Mutation C 23 ZBTB7C SNP 18 C T 43821394 43821394 Baylor ZC3H3 23144 hgsc.bcm.edu GRCh37 8 144590049 144590049 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262577.5:c.1582C>T p.Arg528Trp p.R528W ENST00000262577 NM_015117.2 528 Cgg/Tgg 0 Missense_Mutation G 38 ZC3H3 SNP 8 G A 144661192 144661192 Baylor ZC3H7B 23264 hgsc.bcm.edu GRCh37 22 41735146 41735146 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000352645.4:c.767C>G p.Ser256Ter p.S256* ENST00000352645 NM_017590.5 256 tCa/tGa 0 Nonsense_Mutation C 29 ZC3H7B SNP 22 C G 40065092 40065092 Baylor ZCWPW1 55063 hgsc.bcm.edu GRCh37 7 100014692 100014692 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000398027.2:c.476A>C p.Asn159Thr p.N159T ENST00000398027 NM_017984.4 159 aAt/aCt 0 Missense_Mutation T 52 ZCWPW1 SNP 7 T G 99852628 99852628 Baylor ZFHX4 79776 hgsc.bcm.edu GRCh37 8 77618212 77618212 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000521891.2:c.1889G>T p.Gly630Val p.G630V ENST00000521891 NM_024721.4 630 gGt/gTt 0 Missense_Mutation G 44 ZFHX4 SNP 8 G T 77780767 77780767 Baylor ZBTB21 49854 hgsc.bcm.edu GRCh37 21 43411551 43411551 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1324-01 TCGA-25-1324-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310826.5:c.2654A>C p.Glu885Ala p.E885A ENST00000310826 NM_001098402.1 885 gAg/gCg 0 Missense_Mutation T 54 ZNF295 SNP 21 T G 42284620 42284620 Baylor TP53 7157 genome.wustl.edu GRCh37 17 7578534 7578534 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.396G>T p.Lys132Asn p.K132N ENST00000269305 NM_001126112.2 132 aaG/aaT 0 Missense_Mutation C 32 TP53 SNP 17 C A 7519259 7519259 WashU ENO1 2023 genome.wustl.edu GRCh37 1 8924018 8924018 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000234590.4:c.999C>T p.Asn333= p.N333= ENST00000234590 NM_001428.3 333 aaC/aaT 0 Silent G 40 ENO1 SNP 1 G A 8846605 8846605 WashU SLC2A9 56606 genome.wustl.edu GRCh37 4 9987354 9987354 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264784.3:c.474G>A p.Ser158= p.S158= ENST00000264784 NM_020041.2 158 tcG/tcA 0 Silent C 27 SLC2A9 SNP 4 C T 9596452 9596452 WashU THSD7A 221981 genome.wustl.edu GRCh37 7 11675821 11675821 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000423059.4:c.958C>T p.Gln320Ter p.Q320* ENST00000423059 NM_015204.2 320 Cag/Tag 0 Nonsense_Mutation G 47 THSD7A SNP 7 G A 11642346 11642346 WashU PRAMEF4 400735 genome.wustl.edu GRCh37 1 12942207 12942207 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000235349.5:c.343T>C p.Trp115Arg p.W115R ENST00000235349 NM_001009611.2 115 Tgg/Cgg 0 Missense_Mutation A 7 PRAMEF4 SNP 1 A G 12864794 12864794 WashU MAST3 23031 genome.wustl.edu GRCh37 19 18254610 18254610 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262811.6:c.2290T>A p.Ser764Thr p.S764T ENST00000262811 NM_015016.1 764 Tca/Aca 0 Missense_Mutation T 58 MAST3 SNP 19 T A 18115610 18115610 WashU HRH4 59340 genome.wustl.edu GRCh37 18 22057170 22057170 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256906.4:c.817G>T p.Ala273Ser p.A273S ENST00000256906 NM_021624.3 273 Gct/Tct 0 Missense_Mutation G 46 HRH4 SNP 18 G T 20311168 20311168 WashU MBTPS2 51360 genome.wustl.edu GRCh37 X 21861408 21861408 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379484.5:c.196C>T p.Arg66Trp p.R66W ENST00000379484 NM_015884.3 66 Cgg/Tgg 0 Missense_Mutation C 19 MBTPS2 SNP 23 C T 21771329 21771329 WashU HS3ST2 9956 genome.wustl.edu GRCh37 16 22926412 22926412 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261374.3:c.633C>T p.Ala211= p.A211= ENST00000261374 NM_006043.1 211 gcC/gcT 0 Silent C 21 HS3ST2 SNP 16 C T 22833913 22833913 WashU SPACA3 124912 genome.wustl.edu GRCh37 17 31322540 31322540 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269053.3:c.148G>A p.Ala50Thr p.A50T ENST00000269053 NM_173847.3 50 Gcc/Acc 0 Missense_Mutation G 46 SPACA3 SNP 17 G A 28346653 28346653 WashU DLGAP4 22839 genome.wustl.edu GRCh37 20 35060830 35060830 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000373913.3:c.710G>T p.Ser237Ile p.S237I ENST00000373913 237 aGc/aTc 0 Missense_Mutation G 34 DLGAP4 SNP 20 G T 34494244 34494244 WashU NDUFAF1 51103 genome.wustl.edu GRCh37 15 41687146 41687146 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260361.4:c.670A>C p.Lys224Gln p.K224Q ENST00000260361 NM_016013.3 224 Aag/Cag 0 Missense_Mutation T 63 NDUFAF1 SNP 15 T G 39474438 39474438 WashU ADAMTS20 80070 genome.wustl.edu GRCh37 12 43817683 43817683 + intron_variant Intron SNP C C G novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389420.3:c.4284+1634G>C *1428* ENST00000389420 NM_025003.3 0 Missense_Mutation C 17 ADAMTS20 SNP 12 C G 42103950 42103950 WashU LRRC46 90506 genome.wustl.edu GRCh37 17 45912765 45912765 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269025.4:c.272G>A p.Arg91His p.R91H ENST00000269025 NM_033413.3 91 cGc/cAc 0 Missense_Mutation G 39 LRRC46 SNP 17 G A 43267764 43267764 WashU SZT2 23334 genome.wustl.edu GRCh37 1 43891607 43891607 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000562955.1:c.2916G>A p.Pro972= p.P972= ENST00000562955 NM_015284.3 972 ccG/ccA 0 Silent G 37 KIAA0467 SNP 1 G A 43664194 43664194 WashU ADCY1 107 genome.wustl.edu GRCh37 7 45717574 45717574 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297323.7:c.1712G>A p.Arg571His p.R571H ENST00000297323 NM_021116.2 571 cGc/cAc 0 Missense_Mutation G 38 ADCY1 SNP 7 G A 45684099 45684099 WashU PSG11 5680 genome.wustl.edu GRCh37 19 43519321 43519321 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000401740.1:c.911G>A p.Arg304His p.R304H ENST00000401740 304 cGt/cAt 0 Missense_Mutation C 19 PSG11 SNP 19 C T 48211161 48211161 WashU PLXNB1 5364 genome.wustl.edu GRCh37 3 48454545 48454545 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358536.4:c.4569G>T p.Lys1523Asn p.K1523N ENST00000358536 NM_002673.4 1523 aaG/aaT 0 Missense_Mutation C 32 PLXNB1 SNP 3 C A 48429549 48429549 WashU COL7A1 1294 genome.wustl.edu GRCh37 3 48623284 48623284 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328333.8:c.3765G>T p.Gln1255His p.Q1255H ENST00000328333 NM_000094.3 1255 caG/caT 0 Missense_Mutation C 32 COL7A1 SNP 3 C A 48598288 48598288 WashU ZFYVE9 9372 genome.wustl.edu GRCh37 1 52811830 52811830 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287727.3:c.4215C>G p.Cys1405Trp p.C1405W ENST00000287727 NM_004799.3 1405 tgC/tgG 0 Missense_Mutation C 26 ZFYVE9 SNP 1 C G 52584418 52584418 WashU LIPC 3990 genome.wustl.edu GRCh37 15 58830576 58830576 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356113.6:c.133C>T p.Leu45= p.L45= ENST00000356113 45 Ctg/Ttg 0 Silent C 28 LIPC SNP 15 C T 56617868 56617868 WashU CDH3 1001 genome.wustl.edu GRCh37 16 68718540 68718540 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264012.4:c.1237G>A p.Glu413Lys p.E413K ENST00000264012 NM_001793.4 413 Gag/Aag 0 Missense_Mutation G 37 CDH3 SNP 16 G A 67276041 67276041 WashU LRRC49 54839 genome.wustl.edu GRCh37 15 71229155 71229155 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 T T T G T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000560369.1:c.782T>G p.Ile261Arg p.I261R ENST00000560369 261 aTa/aGa 0 Missense_Mutation T 49 LRRC49 SNP 15 T G 69016209 69016209 WashU ARR3 407 genome.wustl.edu GRCh37 X 69496551 69496551 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307959.8:c.438C>T p.Phe146= p.F146= ENST00000307959 NM_004312.2 146 ttC/ttT 0 Silent C 32 ARR3 SNP 23 C T 69413276 69413276 WashU GPRC5C 55890 genome.wustl.edu GRCh37 17 72436456 72436456 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000392627.1:c.676C>T p.Arg226Trp p.R226W ENST00000392627 NM_022036.2 226 Cgg/Tgg 0 Missense_Mutation C 31 GPRC5C SNP 17 C T 69948051 69948051 WashU MYO7A 4647 genome.wustl.edu GRCh37 11 76870560 76870560 + synonymous_variant Silent SNP C C G novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409709.3:c.1071C>G p.Ser357= p.S357= ENST00000409709 NM_000260.3 357 tcC/tcG 0 Silent C 22 MYO7A SNP 11 G G 76548208 76548208 WashU NTRK2 4915 genome.wustl.edu GRCh37 9 87570331 87570331 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000277120.3:c.2071C>T p.Arg691Cys p.R691C ENST00000277120 691 Cgc/Tgc 0 Missense_Mutation C 23 NTRK2 SNP 9 C T 86760151 86760151 WashU CPSF2 53981 genome.wustl.edu GRCh37 14 92628044 92628044 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298875.4:c.2305T>G p.Tyr769Asp p.Y769D ENST00000298875 NM_017437.2 769 Tat/Gat 0 Missense_Mutation T 61 CPSF2 SNP 14 T G 91697797 91697797 WashU LGI1 9211 genome.wustl.edu GRCh37 10 95553059 95553059 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371418.4:c.790G>C p.Glu264Gln p.E264Q ENST00000371418 NM_005097.2 264 Gaa/Caa 0 Missense_Mutation G 45 LGI1 SNP 10 G C 95543049 95543049 WashU IGHV3-30 genome.wustl.edu GRCh37 14 106791409 106791409 + splice_donor_variant Splice_Site SNP A A T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000390613.2:c.46+2T>A p.X16_splice ENST00000390613 0 Splice_Site_SNP A 6 ENSG00000211953 SNP 14 A T 105862454 105862454 WashU PPP1R3A 5506 genome.wustl.edu GRCh37 7 113558949 113558949 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000284601.3:c.103C>T p.Pro35Ser p.P35S ENST00000284601 NM_002711.3 35 Cct/Tct 0 Missense_Mutation G 44 PPP1R3A SNP 7 G A 113346185 113346185 WashU HIPK2 28996 genome.wustl.edu GRCh37 7 139416581 139416581 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000406875.3:c.253G>A p.Val85Ile p.V85I ENST00000406875 NM_022740.4 85 Gtc/Atc 0 Missense_Mutation C 19 LOC653052 SNP 7 C T 139063067 139063067 WashU CYP11B1 1584 genome.wustl.edu GRCh37 8 143960891 143960891 + intron_variant Intron SNP C C T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000292427.4:c.239+100G>A *80* ENST00000292427 NM_000497.3 0 Missense_Mutation C 23 CYP11B1 SNP 8 C T 143957893 143957893 WashU UTRN 7402 genome.wustl.edu GRCh37 6 144806600 144806600 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367545.3:c.3767T>G p.Met1256Arg p.M1256R ENST00000367545 NM_007124.2 1256 aTg/aGg 0 Missense_Mutation T 51 UTRN SNP 6 T G 144848293 144848293 WashU APH1A 51107 genome.wustl.edu GRCh37 1 150240405 150240405 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369109.3:c.236C>G p.Ser79Cys p.S79C ENST00000369109 NM_001077628.2 79 tCt/tGt 0 Missense_Mutation G 33 APH1A SNP 1 G C 148507029 148507029 WashU HRNR 388697 genome.wustl.edu GRCh37 1 152186837 152186837 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000368801.2:c.7268G>A p.Arg2423Gln p.R2423Q ENST00000368801 NM_001009931.2 2423 cGa/cAa 0 Missense_Mutation C 31 HRNR SNP 1 C T 150453461 150453461 WashU GPR149 344758 genome.wustl.edu GRCh37 3 154055525 154055525 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389740.2:c.2159C>T p.Ala720Val p.A720V ENST00000389740 NM_001038705.1 720 gCt/gTt 0 Missense_Mutation G 34 GPR149 SNP 3 G A 155538219 155538219 WashU OLFML2B 25903 genome.wustl.edu GRCh37 1 161989967 161989967 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000294794.3:c.180G>A p.Leu60= p.L60= ENST00000294794 NM_015441.1 60 ctG/ctA 0 Silent C 21 OLFML2B SNP 1 C T 160256591 160256591 WashU GLRA3 8001 genome.wustl.edu GRCh37 4 175598397 175598397 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000274093.3:c.759G>A p.Met253Ile p.M253I ENST00000274093 NM_006529.2 253 atG/atA 0 Missense_Mutation C 21 GLRA3 SNP 4 C T 175834972 175834972 WashU PIKFYVE 200576 genome.wustl.edu GRCh37 2 209138357 209138357 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264380.4:c.222G>C p.Trp74Cys p.W74C ENST00000264380 NM_015040.3 74 tgG/tgC 0 Missense_Mutation G 41 PIKFYVE SNP 2 G C 208846602 208846602 WashU EIF4ENIF1 56478 genome.wustl.edu GRCh37 22 31836737 31836737 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000397525.1:c.2669del p.Gly890GlufsTer89 p.G890Efs*89 ENST00000397525 NM_001164501.1 890 gGa/ga 0 Frame_Shift_Del C 30 EIF4ENIF1 DEL 22 C - 30166737 30166737 WashU EPDR1 54749 genome.wustl.edu GRCh37 7 37960263 37960275 + 5_prime_UTR_variant 5'UTR DEL AGGCAGTGGCAGC AGGCAGTGGCAGC - novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 AGGCAGTGGCAGC AGGCAGTGGCAGC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000199448.4:c.-256_-244delAGCAGGCAGTGGC *86* ENST00000199448 NM_017549.4 0 Frame_Shift_Del AGGCAGTGGCAGC 3 EPDR1 DEL 7 AGGCAGTGGCAGC - 37926800 37926788 WashU AC007204.1 100128975 genome.wustl.edu GRCh37 19 20048009 20048009 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000595282.1:c.138C>T p.Val46= p.V46= ENST00000595282 46 gtC/gtT 0 Silent G 33 LOC100128975 SNP 19 A G 19909009 19909009 WashU PABPN1 8106 genome.wustl.edu GRCh37 14 23791502 23791502 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216727.4:c.464A>G p.Asn155Ser p.N155S ENST00000216727 NM_004643.3 155 aAt/aGt 0 Missense_Mutation A 4 PABPN1 SNP 14 A G 22861342 22861342 WashU ADAMTS17 170691 genome.wustl.edu GRCh37 15 100695449 100695449 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268070.4:c.1258G>A p.Gly420Ser p.G420S ENST00000268070 NM_139057.2 420 Ggc/Agc 0 Missense_Mutation C 24 ADAMTS17 SNP 15 C T 98512972 98512972 WashU COL7A1 1294 genome.wustl.edu GRCh37 3 48629185 48629185 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-0366-01 TCGA-09-0366-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328333.8:c.1428G>A p.Pro476= p.P476= ENST00000328333 NM_000094.3 476 ccG/ccA 0 Silent C 23 COL7A1 SNP 3 C T 48604189 48604189 WashU SIM1 6492 genome.wustl.edu GRCh37 6 100896081 100896081 + missense_variant Missense_Mutation SNP G G T Unknown TCGA-09-0366-01 TCGA-09-0366-10 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000369208.3:c.791C>A p.Thr264Asn p.T264N ENST00000369208 264 aCt/aAt 0 Missense_Mutation G 36 SIM1 SNP 6 G T 101002802 101002802 WashU MACF1 23499 broad.mit.edu GRCh37 1 39799405 39799405 + intron_variant Intron SNP G G A novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000545844.1:c.4629+6380G>A *1543* ENST00000545844 0 Missense_Mutation G 46 MACF1 SNP 1 G A 39571992 39571992 Broad PODN 127435 broad.mit.edu GRCh37 1 53542969 53542969 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000312553.5:c.833G>A p.Arg278His p.R278H ENST00000312553 NM_001199081.1 278 cGc/cAc 0 Missense_Mutation G 38 PODN SNP 1 G A 53315557 53315557 Broad BEND7 222389 broad.mit.edu GRCh37 10 13541893 13541893 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000341083.3:c.177G>A p.Pro59= p.P59= ENST00000341083 NM_152751.2 59 ccG/ccA 0 Silent C 19 BEND7 SNP 10 C T 13581899 13581899 Broad RET 5979 broad.mit.edu GRCh37 10 43609955 43609955 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000355710.3:c.1907C>T p.Thr636Met p.T636M ENST00000355710 NM_020975.4 636 aCg/aTg 0 Missense_Mutation C 19 RET SNP 10 C T 42929961 42929961 Broad ACCSL 390110 broad.mit.edu GRCh37 11 44081447 44081447 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000378832.1:c.1684T>G p.Leu562Val p.L562V ENST00000378832 NM_001031854.2 562 Ttg/Gtg 0 Missense_Mutation T 60 ACCSL SNP 11 T G 44038023 44038023 Broad AGBL2 79841 broad.mit.edu GRCh37 11 47707507 47707507 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000525123.1:c.1726C>A p.Arg576Ser p.R576S ENST00000525123 NM_024783.3 576 Cgc/Agc 0 Missense_Mutation G 37 AGBL2 SNP 11 G T 47664083 47664083 Broad AAAS 8086 broad.mit.edu GRCh37 12 53701429 53701429 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000209873.4:c.1485C>T p.Ser495= p.S495= ENST00000209873 NM_015665.5 495 agC/agT 0 Silent G 42 AAAS SNP 12 G A 51987696 51987696 Broad ATP6V0A2 23545 broad.mit.edu GRCh37 12 124233130 124233130 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000330342.3:c.1733G>A p.Arg578Lys p.R578K ENST00000330342 NM_012463.3 578 aGg/aAg 0 Missense_Mutation G 35 ATP6V0A2 SNP 12 G A 122799083 122799083 Broad ATP11A 23250 broad.mit.edu GRCh37 13 113512571 113512571 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000487903.1:c.2634G>A p.Arg878= p.R878= ENST00000487903 878 agG/agA 0 Silent G 41 ATP11A SNP 13 G A 112560572 112560572 Broad ZFYVE26 23503 broad.mit.edu GRCh37 14 68274137 68274137 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000347230.4:c.864G>A p.Pro288= p.P288= ENST00000347230 NM_015346.3 288 ccG/ccA 0 Silent C 31 ZFYVE26 SNP 14 C T 67343890 67343890 Broad TICRR 90381 broad.mit.edu GRCh37 15 90119447 90119447 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000268138.7:c.630G>A p.Trp210Ter p.W210* ENST00000268138 210 tgG/tgA 0 Nonsense_Mutation G 43 C15orf42 SNP 15 G A 87920451 87920451 Broad TRAF7 84231 broad.mit.edu GRCh37 16 2223967 2223967 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000326181.6:c.1181G>A p.Gly394Asp p.G394D ENST00000326181 NM_032271.2 394 gGc/gAc 0 Missense_Mutation G 42 TRAF7 SNP 16 G A 2163968 2163968 Broad RBFOX1 54715 broad.mit.edu GRCh37 16 7680668 7680668 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000311745.5:c.800T>C p.Leu267Pro p.L267P ENST00000311745 NM_145891.2 267 cTt/cCt 0 Missense_Mutation T 56 A2BP1 SNP 16 T C 7620669 7620669 Broad NFATC2IP 84901 broad.mit.edu GRCh37 16 28965980 28965981 + stop_gained Nonsense_Mutation DNP AG AG CT novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000320805.4:c.555_556inv p.Glu185_Glu186delinsAspTer p.E185_E186delinsD* ENST00000320805 NM_032815.3 185 gaAGag/gaCTag 0 Nonsense_Mutation AG 3 NFATC2IP DNP 16 AG CT 28873482 28873481 Broad TP53 7157 broad.mit.edu GRCh37 17 7578394 7578394 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.536A>G p.His179Arg p.H179R ENST00000269305 NM_001126112.2 179 cAt/cGt 0 Missense_Mutation T 51 TP53 SNP 17 T C 7519119 7519119 Broad GGNBP2 79893 broad.mit.edu GRCh37 17 34943498 34943498 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000304718.4:c.1713G>T p.Val571= p.V571= ENST00000304718 NM_024835.4 571 gtG/gtT 0 Silent G 48 GGNBP2 SNP 17 G T 32017611 32017611 Broad KIF18B 146909 broad.mit.edu GRCh37 17 43010045 43010045 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000593135.1:c.1234G>A p.Glu412Lys p.E412K ENST00000593135 NM_001265577.1 412 Gaa/Aaa 0 Missense_Mutation C 32 KIF18B SNP 17 C T 40365571 40365571 Broad DCC 1630 broad.mit.edu GRCh37 18 50832017 50832017 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000442544.2:c.1981C>T p.Arg661Ter p.R661* ENST00000442544 NM_005215.3 661 Cga/Tga 0 Nonsense_Mutation C 31 DCC SNP 18 C T 49086015 49086015 Broad ONECUT2 9480 broad.mit.edu GRCh37 18 55143729 55143729 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000491143.2:c.1289G>A p.Arg430His p.R430H ENST00000491143 NM_004852.2 430 cGc/cAc 0 Missense_Mutation G 38 ONECUT2 SNP 18 G A 53294727 53294727 Broad RFXANK 8625 broad.mit.edu GRCh37 19 19309992 19309992 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000303088.4:c.661G>A p.Asp221Asn p.D221N ENST00000303088 NM_003721.3 221 Gac/Aac 0 Missense_Mutation G 37 RFXANK SNP 19 G A 19170992 19170992 Broad ZNF585B 92285 broad.mit.edu GRCh37 19 37678050 37678050 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000532828.2:c.389A>G p.Tyr130Cys p.Y130C ENST00000532828 NM_152279.3 130 tAt/tGt 0 Missense_Mutation T 49 ZNF585B SNP 19 T C 42369890 42369890 Broad MFSD2B 388931 broad.mit.edu GRCh37 2 24244609 24244609 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000406420.3:c.772+1G>A p.X258_splice ENST00000406420 NM_001080473.1 0 Splice_Site_SNP G 44 MFSD2B SNP 2 G A 24098113 24098113 Broad FAM179A 165186 broad.mit.edu GRCh37 2 29221081 29221081 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000379558.4:c.101C>T p.Pro34Leu p.P34L ENST00000379558 NM_199280.2 34 cCg/cTg 0 Missense_Mutation C 23 FAM179A SNP 2 C T 29074585 29074585 Broad NRXN1 9378 broad.mit.edu GRCh37 2 50765667 50765667 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000404971.1:c.1987G>A p.Ala663Thr p.A663T ENST00000404971 NM_001135659.1 663 Gct/Act 0 Missense_Mutation C 28 NRXN1 SNP 2 C T 50619171 50619171 Broad UXS1 80146 broad.mit.edu GRCh37 2 106761805 106761805 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000283148.7:c.313G>C p.Val105Leu p.V105L ENST00000283148 NM_001253875.1 105 Gtg/Ctg 0 Missense_Mutation C 19 UXS1 SNP 2 C G 106128237 106128237 Broad CNTNAP5 129684 broad.mit.edu GRCh37 2 125671768 125671768 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000431078.1:c.3824A>C p.Lys1275Thr p.K1275T ENST00000431078 NM_130773.3 1275 aAg/aCg 0 Missense_Mutation A 3 CNTNAP5 SNP 2 A C 125388238 125388238 Broad APMAP 57136 broad.mit.edu GRCh37 20 24949674 24949674 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000217456.2:c.895G>A p.Glu299Lys p.E299K ENST00000217456 NM_020531.2 299 Gag/Aag 0 Missense_Mutation C 30 C20orf3 SNP 20 C T 24897674 24897674 Broad TRIOBP 11078 broad.mit.edu GRCh37 22 38119398 38119398 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000406386.3:c.835T>C p.Ser279Pro p.S279P ENST00000406386 NM_001039141.2 279 Tcc/Ccc 0 Missense_Mutation T 54 TRIOBP SNP 22 T C 36449344 36449344 Broad DVL3 1857 broad.mit.edu GRCh37 3 183882623 183882623 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000313143.3:c.503G>A p.Arg168Gln p.R168Q ENST00000313143 NM_004423.3 168 cGa/cAa 0 Missense_Mutation G 37 DVL3 SNP 3 G A 185365317 185365317 Broad CPN2 1370 broad.mit.edu GRCh37 3 194062382 194062382 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000323830.3:c.1050G>C p.Thr350= p.T350= ENST00000323830 NM_001080513.2 350 acG/acC 0 Silent C 23 CPN2 SNP 3 C G 195544077 195544077 Broad TNK2 10188 broad.mit.edu GRCh37 3 195595268 195595268 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000381916.2:c.2090C>T p.Thr697Met p.T697M ENST00000381916 NM_001010938.1 697 aCg/aTg 0 Missense_Mutation G 40 TNK2 SNP 3 G A 197079665 197079665 Broad UGT2A1 10941 broad.mit.edu GRCh37 4 70513238 70513238 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000503640.1:c.125A>C p.Glu42Ala p.E42A ENST00000503640 NM_006798.3 42 gAg/gCg 0 Missense_Mutation T 54 UGT2A1 SNP 4 T G 70547827 70547827 Broad MUC7 4589 broad.mit.edu GRCh37 4 71346646 71346646 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000413702.1:c.185C>G p.Ser62Cys p.S62C ENST00000413702 NM_001145006.1 62 tCc/tGc 0 Missense_Mutation C 30 MUC7 SNP 4 C G 71381235 71381235 Broad RAD1 5810 broad.mit.edu GRCh37 5 34914913 34914913 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000382038.2:c.85A>G p.Thr29Ala p.T29A ENST00000382038 NM_002853.3 29 Act/Gct 0 Missense_Mutation T 59 RAD1 SNP 5 T C 34950670 34950670 Broad WDR70 55100 broad.mit.edu GRCh37 5 37480010 37480010 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000265107.4:c.761A>T p.Lys254Met p.K254M ENST00000265107 NM_018034.2 254 aAg/aTg 0 Missense_Mutation A 3 WDR70 SNP 5 A T 37515767 37515767 Broad DMGDH 29958 broad.mit.edu GRCh37 5 78359473 78359473 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000255189.3:c.239A>G p.Glu80Gly p.E80G ENST00000255189 NM_013391.3 80 gAg/gGg 0 Missense_Mutation T 54 DMGDH SNP 5 T C 78395229 78395229 Broad FBN2 2201 broad.mit.edu GRCh37 5 127685145 127685145 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000508053.1:c.2883G>A p.Val961= p.V961= ENST00000508053 961 gtG/gtA 0 Silent C 17 FBN2 SNP 5 C T 127713044 127713044 Broad PCDHB13 56123 broad.mit.edu GRCh37 5 140594275 140594276 + missense_variant Missense_Mutation DNP GA GA CG novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000341948.4:c.580_581delinsCG p.Glu194Arg p.E194R ENST00000341948 NM_018933.2 194 GAg/CGg 0 Missense_Mutation GA 33 PCDHB13 DNP 5 GA CG 140574460 140574459 Broad GMNN 51053 broad.mit.edu GRCh37 6 24784337 24784337 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000230056.3:c.297G>T p.Trp99Cys p.W99C ENST00000230056 NM_015895.4 99 tgG/tgT 0 Missense_Mutation G 41 GMNN SNP 6 G T 24892316 24892316 Broad BRD2 6046 broad.mit.edu GRCh37 6 32944462 32944462 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000395289.2:c.949C>T p.Arg317Cys p.R317C ENST00000395289 317 Cgt/Tgt 0 Missense_Mutation C 27 BRD2 SNP 6 C T 33052440 33052440 Broad MRPL14 64928 broad.mit.edu GRCh37 6 44081843 44081843 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000372014.3:c.175C>A p.His59Asn p.H59N ENST00000372014 NM_032111.2 59 Cat/Aat 0 Missense_Mutation G 47 MRPL14 SNP 6 G T 44189821 44189821 Broad DDX43 55510 broad.mit.edu GRCh37 6 74104868 74104868 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000370336.4:c.240C>T p.Gly80= p.G80= ENST00000370336 NM_018665.2 80 ggC/ggT 0 Silent C 27 DDX43 SNP 6 C T 74161589 74161589 Broad RRAGD 58528 broad.mit.edu GRCh37 6 90077897 90077897 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000369415.4:c.1081C>T p.Arg361Trp p.R361W ENST00000369415 NM_021244.4 361 Cgg/Tgg 0 Missense_Mutation G 39 RRAGD SNP 6 G A 90134616 90134616 Broad DBNL 28988 broad.mit.edu GRCh37 7 44100378 44100379 + missense_variant,splice_region_variant Missense_Mutation DNP GA GA TG novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000468694.1:c.1183_1184delinsTG p.Asp395Cys p.D395C ENST00000468694 NM_001122956.1 395 GAc/TGc 0 Missense_Mutation GA 37 DBNL DNP 7 GA TG 44066904 44066903 Broad ABCB1 5243 broad.mit.edu GRCh37 7 87144576 87144576 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000265724.3:c.3253C>T p.Arg1085Trp p.R1085W ENST00000265724 NM_000927.4 1085 Cgg/Tgg 0 Missense_Mutation G 38 ABCB1 SNP 7 G A 86982512 86982512 Broad CNTNAP2 26047 broad.mit.edu GRCh37 7 147869553 147869553 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000361727.3:c.2993G>T p.Gly998Val p.G998V ENST00000361727 NM_014141.5 998 gGa/gTa 0 Missense_Mutation G 41 CNTNAP2 SNP 7 G T 147500486 147500486 Broad CNBD1 168975 broad.mit.edu GRCh37 8 87951898 87951898 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000518476.1:c.347A>G p.Gln116Arg p.Q116R ENST00000518476 NM_173538.2 116 cAg/cGg 0 Missense_Mutation A 7 CNBD1 SNP 8 A G 88021014 88021014 Broad FAM135B 51059 broad.mit.edu GRCh37 8 139165263 139165263 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000395297.1:c.1455T>C p.Asn485= p.N485= ENST00000395297 NM_015912.3 485 aaT/aaC 0 Silent A 8 FAM135B SNP 8 A G 139234445 139234445 Broad TBC1D2 55357 broad.mit.edu GRCh37 9 101006376 101006376 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000375066.5:c.547C>G p.Pro183Ala p.P183A ENST00000375066 NM_018421.3 183 Cct/Gct 0 Missense_Mutation G 43 TBC1D2 SNP 9 G C 100046197 100046197 Broad HTR2C 3358 broad.mit.edu GRCh37 X 114141779 114141779 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000276198.1:c.1178C>T p.Pro393Leu p.P393L ENST00000276198 NM_000868.2 393 cCt/cTt 0 Missense_Mutation C 24 HTR2C SNP 23 C T 114048035 114048035 Broad DOCK11 139818 broad.mit.edu GRCh37 X 117809930 117809930 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-2060-01 TCGA-13-2060-10 Unknown Unknown Unknown x x x ENST00000276202.7:c.5231G>T p.Gly1744Val p.G1744V ENST00000276202 NM_144658.3 1744 gGa/gTa 0 Missense_Mutation G 41 DOCK11 SNP 23 G T 117693958 117693958 Broad CROCC 9696 broad.mit.edu GRCh37 1 17250890 17250890 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000375541.5:c.267G>C p.Glu89Asp p.E89D ENST00000375541 NM_014675.3 89 gaG/gaC 0 Missense_Mutation G 34 CROCC SNP 1 G C 17123477 17123477 Broad TNNI3K 51086 broad.mit.edu GRCh37 1 74819687 74819687 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000370891.2:c.1354G>A p.Gly452Ser p.G452S ENST00000370891 NM_001112808.2 452 Ggt/Agt 0 Missense_Mutation G 39 TNNI3K SNP 1 G A 74592275 74592275 Broad CR1 1378 broad.mit.edu GRCh37 1 207790003 207790003 + missense_variant Missense_Mutation SNP A A G rs55770942 Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000367049.4:c.6745A>G p.Ile2249Val p.I2249V ENST00000367049 NM_000651.4 2249 Ata/Gta 0 Missense_Mutation A 4 CR1 SNP 1 A G 205856626 205856626 Broad TSPAN32 10077 broad.mit.edu GRCh37 11 2339102 2339103 + missense_variant Missense_Mutation DNP GC GC TG novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000182290.4:c.911_912delinsTG p.Gly304Val p.G304V ENST00000182290 NM_139022.2 304 gGC/gTG 0 Missense_Mutation GC 42 TSPAN32 DNP 11 GC TG 2295679 2295678 Broad EIF4G2 1982 broad.mit.edu GRCh37 11 10821215 10821215 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000526148.1:c.2208A>C p.Glu736Asp p.E736D ENST00000526148 NM_001172705.1 736 gaA/gaC 0 Missense_Mutation T 60 EIF4G2 SNP 11 T G 10777791 10777791 Broad CD82 3732 broad.mit.edu GRCh37 11 44626655 44626655 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000227155.4:c.184G>A p.Val62Met p.V62M ENST00000227155 NM_002231.3 62 Gtg/Atg 0 Missense_Mutation G 40 CD82 SNP 11 G A 44583231 44583231 Broad OR5D13 390142 broad.mit.edu GRCh37 11 55540921 55540921 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000361760.1:c.8C>A p.Ala3Glu p.A3E ENST00000361760 NM_001001967.1 3 gCa/gAa 0 Missense_Mutation C 25 OR5D13 SNP 11 C A 55297497 55297497 Broad OR5M11 219487 broad.mit.edu GRCh37 11 56310489 56310489 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000528616.2:c.245C>T p.Ser82Leu p.S82L ENST00000528616 NM_001005245.1 82 tCg/tTg 0 Missense_Mutation G 37 OR5M11 SNP 11 G A 56067065 56067065 Broad SRSF8 10929 broad.mit.edu GRCh37 11 94801044 94801044 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000529911.1:c.654C>T p.Leu218= p.L218= ENST00000529911 NM_032102.3 218 ctC/ctT 0 Silent C 31 SRSF8 SNP 11 C T 94440692 94440692 Broad CEP164 22897 broad.mit.edu GRCh37 11 117282856 117282856 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000278935.3:c.4355A>C p.His1452Pro p.H1452P ENST00000278935 NM_014956.4 1452 cAc/cCc 0 Missense_Mutation A 6 CEP164 SNP 11 A C 116788066 116788066 Broad EI24 9538 broad.mit.edu GRCh37 11 125447464 125447464 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000278903.6:c.314T>C p.Ile105Thr p.I105T ENST00000278903 NM_004879.3 105 aTc/aCc 0 Missense_Mutation T 50 EI24 SNP 11 T C 124952674 124952674 Broad FAM90A1 55138 broad.mit.edu GRCh37 12 8377408 8377408 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000538603.1:c.21C>G p.Pro7= p.P7= ENST00000538603 NM_018088.3 7 ccC/ccG 0 Silent G 47 FAM90A1 SNP 12 G C 8268675 8268675 Broad TPH2 121278 broad.mit.edu GRCh37 12 72388224 72388224 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000333850.3:c.947C>G p.Thr316Arg p.T316R ENST00000333850 NM_173353.3 316 aCa/aGa 0 Missense_Mutation C 17 TPH2 SNP 12 C G 70674491 70674491 Broad SLC17A8 246213 broad.mit.edu GRCh37 12 100796167 100796167 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000323346.5:c.813G>T p.Glu271Asp p.E271D ENST00000323346 NM_001145288.1 271 gaG/gaT 0 Missense_Mutation G 36 SLC17A8 SNP 12 G T 99320298 99320298 Broad RSRC2 65117 broad.mit.edu GRCh37 12 123006786 123006786 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000331738.7:c.67A>T p.Lys23Ter p.K23* ENST00000331738 NM_023012.5 23 Aaa/Taa 0 Nonsense_Mutation T 62 RSRC2 SNP 12 T A 121572739 121572739 Broad FREM2 341640 broad.mit.edu GRCh37 13 39262686 39262686 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000280481.7:c.1205C>T p.Ser402Phe p.S402F ENST00000280481 NM_207361.4 402 tCt/tTt 0 Missense_Mutation C 32 FREM2 SNP 13 C T 38160686 38160686 Broad EXOC3L4 91828 broad.mit.edu GRCh37 14 103574825 103574825 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000380069.3:c.1947G>C p.Glu649Asp p.E649D ENST00000380069 NM_001077594.1 649 gaG/gaC 0 Missense_Mutation G 33 C14orf73 SNP 14 G C 102644578 102644578 Broad KLHL25 64410 broad.mit.edu GRCh37 15 86312927 86312927 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000337975.5:c.115C>T p.Leu39Phe p.L39F ENST00000337975 NM_022480.3 39 Ctt/Ttt 0 Missense_Mutation G 34 KLHL25 SNP 15 G A 84113931 84113931 Broad ATP2A1 487 broad.mit.edu GRCh37 16 28909649 28909649 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000357084.3:c.1641G>A p.Ala547= p.A547= ENST00000357084 NM_173201.3 547 gcG/gcA 0 Silent G 39 ATP2A1 SNP 16 G A 28817150 28817150 Broad FHOD1 29109 broad.mit.edu GRCh37 16 67281166 67281166 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000258201.4:c.148C>G p.Pro50Ala p.P50A ENST00000258201 NM_013241.2 50 Ccc/Gcc 0 Missense_Mutation G 42 FHOD1 SNP 16 G C 65838667 65838667 Broad PARD6A 50855 broad.mit.edu GRCh37 16 67696293 67696293 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000219255.3:c.784C>T p.Arg262Cys p.R262C ENST00000219255 262 Cgt/Tgt 0 Missense_Mutation C 27 PARD6A SNP 16 C T 66253794 66253794 Broad RILP 83547 broad.mit.edu GRCh37 17 1549751 1549751 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000301336.6:c.1191C>T p.Ala397= p.A397= ENST00000301336 NM_031430.2 397 gcC/gcT 0 Silent G 39 RILP SNP 17 G A 1496501 1496501 Broad C1QBP 708 broad.mit.edu GRCh37 17 5341451 5341451 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000225698.4:c.375C>G p.Ala125= p.A125= ENST00000225698 NM_001212.3 125 gcC/gcG 0 Silent G 39 C1QBP SNP 17 G C 5282175 5282175 Broad RNF112 7732 broad.mit.edu GRCh37 17 19318109 19318109 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000461366.1:c.1035G>T p.Val345= p.V345= ENST00000461366 NM_007148.4 345 gtG/gtT 0 Silent G 46 RNF112 SNP 17 G T 19258701 19258701 Broad GAS2L2 246176 broad.mit.edu GRCh37 17 34076160 34076160 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000254466.6:c.704T>A p.Val235Glu p.V235E ENST00000254466 NM_139285.3 235 gTg/gAg 0 Missense_Mutation A 6 GAS2L2 SNP 17 A T 31100273 31100273 Broad PLEKHH3 79990 broad.mit.edu GRCh37 17 40826400 40826400 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000591022.1:c.190C>G p.Pro64Ala p.P64A ENST00000591022 NM_024927.4 64 Cca/Gca 0 Missense_Mutation G 42 PLEKHH3 SNP 17 G C 38079926 38079926 Broad PYY 5697 broad.mit.edu GRCh37 17 42030480 42030481 + missense_variant Missense_Mutation DNP GA GA TG novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000360085.2:c.265_266delinsCA p.Ser89Gln p.S89Q ENST00000360085 NM_004160.4 89 TCg/CAg 0 Missense_Mutation GA 37 PYY DNP 17 GA TG 39386007 39386006 Broad MYCBPAP 84073 broad.mit.edu GRCh37 17 48596043 48596043 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000323776.5:c.739C>T p.Arg247Cys p.R247C ENST00000323776 NM_032133.4 247 Cgt/Tgt 0 Missense_Mutation C 27 MYCBPAP SNP 17 C T 45951042 45951042 Broad MC2R 4158 broad.mit.edu GRCh37 18 13885322 13885322 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000327606.3:c.196T>A p.Leu66Met p.L66M ENST00000327606 NM_000529.2 66 Ttg/Atg 0 Missense_Mutation A 3 MC2R SNP 18 A T 13875322 13875322 Broad CEACAM5 1048 broad.mit.edu GRCh37 19 42224002 42224002 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000221992.6:c.1646T>A p.Leu549Gln p.L549Q ENST00000221992 NM_004363.2 549 cTg/cAg 0 Missense_Mutation T 55 CEACAM5 SNP 19 T A 46915842 46915842 Broad ARHGAP35 2909 broad.mit.edu GRCh37 19 47425365 47425365 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000404338.3:c.3433C>T p.Arg1145Ter p.R1145* ENST00000404338 NM_004491.4 1145 Cga/Tga 0 Nonsense_Mutation C 27 GRLF1 SNP 19 C T 52117205 52117205 Broad MYADM 91663 broad.mit.edu GRCh37 19 54377273 54377273 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000391769.2:c.490G>A p.Glu164Lys p.E164K ENST00000391769 NM_001020821.1 164 Gag/Aag 0 Missense_Mutation G 37 MYADM SNP 19 G A 59069085 59069085 Broad PTPRH 5794 broad.mit.edu GRCh37 19 55711817 55711817 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000376350.3:c.1207G>T p.Ala403Ser p.A403S ENST00000376350 NM_002842.3 403 Gcc/Tcc 0 Missense_Mutation C 27 PTPRH SNP 19 C A 60403629 60403629 Broad GPR113 165082 broad.mit.edu GRCh37 2 26534166 26534166 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000311519.1:c.2430C>T p.Ala810= p.A810= ENST00000311519 NM_001145168.1 810 gcC/gcT 0 Silent G 39 GPR113 SNP 2 G A 26387670 26387670 Broad TTN 7273 broad.mit.edu GRCh37 2 179397562 179397562 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.103780C>T p.Arg34594Cys p.R34594C ENST00000589042 NM_001267550.1 34594 Cgc/Tgc 0 Missense_Mutation G 38 TTN SNP 2 G A 179105808 179105808 Broad TTN 7273 broad.mit.edu GRCh37 2 179456052 179456052 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000589042.1:c.60400T>A p.Ser20134Thr p.S20134T ENST00000589042 NM_001267550.1 20134 Tca/Aca 0 Missense_Mutation A 12 TTN SNP 2 A T 179164298 179164298 Broad RQCD1 9125 broad.mit.edu GRCh37 2 219447753 219447753 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000273064.6:c.264C>A p.Asn88Lys p.N88K ENST00000273064 NM_005444.2 88 aaC/aaA 0 Missense_Mutation C 17 RQCD1 SNP 2 C A 219155997 219155997 Broad HUNK 30811 broad.mit.edu GRCh37 21 33368136 33368136 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000270112.2:c.1361C>T p.Ser454Phe p.S454F ENST00000270112 NM_014586.1 454 tCc/tTc 0 Missense_Mutation C 30 HUNK SNP 21 C T 32290007 32290007 Broad GSTT1 2952 broad.mit.edu GRCh37 22 24376834 24376834 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000248935.5:c.516G>A p.Thr172= p.T172= ENST00000248935 NM_000853.2 172 acG/acA 0 Silent C 23 GSTT1 SNP 22 C T 22706834 22706834 Broad C3orf20 84077 broad.mit.edu GRCh37 3 14803007 14803007 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000253697.3:c.2380G>T p.Gly794Trp p.G794W ENST00000253697 NM_032137.4 794 Ggg/Tgg 0 Missense_Mutation G 47 C3orf20 SNP 3 G T 14778011 14778011 Broad CADPS 8618 broad.mit.edu GRCh37 3 62739418 62739419 + missense_variant Missense_Mutation DNP TG TG CA novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000383710.4:c.585_586inv p.Met196Val p.M196V ENST00000383710 NM_003716.3 195 cgCAtg/cgTGtg 0 Missense_Mutation TG 51 CADPS DNP 3 TG CA 62714459 62714458 Broad GBE1 2632 broad.mit.edu GRCh37 3 81586152 81586152 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000429644.2:c.1713C>T p.Asp571= p.D571= ENST00000429644 NM_000158.3 571 gaC/gaT 0 Silent G 40 GBE1 SNP 3 G A 81668842 81668842 Broad HTT 3064 broad.mit.edu GRCh37 4 3208354 3208354 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000355072.5:c.5850C>T p.Ser1950= p.S1950= ENST00000355072 NM_002111.6 1950 agC/agT 0 Silent C 27 HTT SNP 4 C T 3178152 3178152 Broad FAT4 79633 broad.mit.edu GRCh37 4 126240977 126240977 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000394329.3:c.3411T>C p.Tyr1137= p.Y1137= ENST00000394329 NM_024582.4 1137 taT/taC 0 Silent T 52 FAT4 SNP 4 T C 126460427 126460427 Broad FAT4 79633 broad.mit.edu GRCh37 4 126372410 126372410 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000394329.3:c.10239C>A p.Ile3413= p.I3413= ENST00000394329 NM_024582.4 3413 atC/atA 0 Silent C 29 FAT4 SNP 4 C A 126591860 126591860 Broad ARL15 54622 broad.mit.edu GRCh37 5 53606279 53606279 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000504924.1:c.31C>G p.Leu11Val p.L11V ENST00000504924 NM_019087.2 11 Ctg/Gtg 0 Missense_Mutation G 33 ARL15 SNP 5 G C 53642036 53642036 Broad GRIA1 2890 broad.mit.edu GRCh37 5 153078456 153078456 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000518783.1:c.1305C>T p.Asn435= p.N435= ENST00000518783 NM_001258021.1 435 aaC/aaT 0 Silent C 19 GRIA1 SNP 5 C T 153058649 153058649 Broad ITK 3702 broad.mit.edu GRCh37 5 156665131 156665131 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000422843.3:c.781G>C p.Ala261Pro p.A261P ENST00000422843 NM_005546.3 261 Gcc/Ccc 0 Missense_Mutation G 34 ITK SNP 5 G C 156597709 156597709 Broad NME8 51314 broad.mit.edu GRCh37 7 37916520 37916520 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000199447.4:c.905C>T p.Ala302Val p.A302V ENST00000199447 NM_016616.4 302 gCt/gTt 0 Missense_Mutation C 28 TXNDC3 SNP 7 C T 37883045 37883045 Broad COL22A1 169044 broad.mit.edu GRCh37 8 139688816 139688816 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000303045.6:c.3135G>T p.Gly1045= p.G1045= ENST00000303045 NM_152888.1 1045 ggG/ggT 0 Silent C 22 COL22A1 SNP 8 C A 139757998 139757998 Broad KANK1 23189 broad.mit.edu GRCh37 9 712652 712652 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000382303.1:c.1886G>A p.Gly629Asp p.G629D ENST00000382303 NM_001256876.1 629 gGt/gAt 0 Missense_Mutation G 44 KANK1 SNP 9 G A 702652 702652 Broad COL27A1 85301 broad.mit.edu GRCh37 9 117063983 117063983 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000356083.3:c.4831C>T p.Arg1611Trp p.R1611W ENST00000356083 NM_032888.2 1611 Cgg/Tgg 0 Missense_Mutation C 27 COL27A1 SNP 9 C T 116103804 116103804 Broad ZNF41 7592 broad.mit.edu GRCh37 X 47307087 47307087 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000377065.4:c.2082T>C p.Gly694= p.G694= ENST00000377065 NM_153380.2 694 ggT/ggC 0 Silent A 6 ZNF41 SNP 23 A G 47192031 47192031 Broad UBQLN2 29978 broad.mit.edu GRCh37 X 56590390 56590390 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000338222.5:c.84T>G p.Ala28= p.A28= ENST00000338222 NM_013444.3 28 gcT/gcG 0 Silent T 55 UBQLN2 SNP 23 T G 56607115 56607115 Broad ARMCX2 9823 broad.mit.edu GRCh37 X 100911587 100911587 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000328766.5:c.988G>A p.Ala330Thr p.A330T ENST00000328766 NM_014782.5 330 Gct/Act 0 Missense_Mutation C 26 ARMCX2 SNP 23 C T 100798243 100798243 Broad UPF3B 65109 broad.mit.edu GRCh37 X 118971920 118971920 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000276201.2:c.1102C>T p.Arg368Trp p.R368W ENST00000276201 NM_080632.2 368 Cgg/Tgg 0 Missense_Mutation G 38 UPF3B SNP 23 G A 118855948 118855948 Broad ELF4 2000 broad.mit.edu GRCh37 X 129203384 129203384 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000308167.5:c.1078C>T p.Pro360Ser p.P360S ENST00000308167 NM_001421.3 360 Cca/Tca 0 Missense_Mutation G 42 ELF4 SNP 23 G A 129031065 129031065 Broad FMR1 2332 broad.mit.edu GRCh37 X 147024700 147024700 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000370475.4:c.1325G>A p.Arg442Gln p.R442Q ENST00000370475 NM_002024.5 442 cGa/cAa 0 Missense_Mutation G 37 FMR1 SNP 23 G A 146832392 146832392 Broad L1CAM 3897 broad.mit.edu GRCh37 X 153130812 153130812 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000370060.1:c.2691C>A p.Ala897= p.A897= ENST00000370060 NM_001278116.1 897 gcC/gcA 0 Silent G 35 L1CAM SNP 23 G T 152784006 152784006 Broad GAB3 139716 broad.mit.edu GRCh37 X 153944597 153944597 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown x x x ENST00000424127.2:c.80G>A p.Arg27His p.R27H ENST00000424127 27 cGc/cAc 0 Missense_Mutation C 27 GAB3 SNP 23 C T 153597791 153597791 Broad KRT6C 286887 broad.mit.edu GRCh37 12 52867342 52867342 + frameshift_variant Frame_Shift_Del DEL A A - rs61740354 Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000252250.6:c.180del p.Leu61CysfsTer85 p.L61Cfs*85 ENST00000252250 NM_173086.4 60 agT/ag 0 Frame_Shift_Del A 10 KRT6C DEL 12 - A 51153609 51153609 Broad MAP3K9 4293 broad.mit.edu GRCh37 14 71275774 71275776 + inframe_deletion In_Frame_Del DEL CCT CCT - novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000555993.2:c.113_115delAGG p.Glu38del p.E38del ENST00000555993 NM_033141.2 38 gAGGcg/gcg 0 In_Frame_Del CCT 26 MAP3K9 DEL 14 - CCT 70345529 70345527 Broad PLD2 5338 broad.mit.edu GRCh37 17 4720262 4720263 + frameshift_variant Frame_Shift_Del DEL TG TG - novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 - TG TG TG Unknown Valid Somatic Phase_I Capture Illumina GAIIx ENST00000263088.6:c.1613_1614del p.Met538ThrfsTer102 p.M538Tfs*102 ENST00000263088 NM_001243108.1 538 aTG/a 0 Frame_Shift_Del TG 51 PLD2 DEL 17 - TG 4667229 4667228 Broad TP53 7157 broad.mit.edu GRCh37 17 7579462 7579462 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 - - A A Unknown Valid Somatic Phase_I Capture Illumina GAIIx ENST00000269305.4:c.225del p.Ala76HisfsTer47 p.A76Hfs*47 ENST00000269305 NM_001126112.2 75 ccT/cc 0 Frame_Shift_Del A 7 TP53 DEL 17 - - 7520187 7520187 Broad C17orf70 80233 broad.mit.edu GRCh37 17 79512899 79512899 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-13-1505-01 TCGA-13-1505-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000327787.8:c.2183del p.Leu728ArgfsTer19 p.L728Rfs*19 ENST00000327787 728 cTg/cg 0 Frame_Shift_Del A 7 C17orf70 DEL 17 - A 77123352 77123352 Broad ACOT11 26027 hgsc.bcm.edu GRCh37 1 55059671 55059671 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371316.3:c.430A>T p.Lys144Ter p.K144* ENST00000371316 NM_015547.3 144 Aag/Tag 0 Nonsense_Mutation A 5 ACOT11 SNP 1 A T 54832259 54832259 Baylor ACTR3B 57180 hgsc.bcm.edu GRCh37 7 152549270 152549270 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000256001.8:c.1011G>T p.Arg337Ser p.R337S ENST00000256001 NM_020445.5 337 agG/agT 0 Missense_Mutation G 43 ACTR3B SNP 7 G T 152180203 152180203 Baylor ADAMTS16 170690 hgsc.bcm.edu GRCh37 5 5319202 5319202 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000274181.7:c.3626A>T p.Lys1209Met p.K1209M ENST00000274181 NM_139056.2 1209 aAg/aTg 0 Missense_Mutation A 3 ADAMTS16 SNP 5 A T 5372202 5372202 Baylor AIM1 202 hgsc.bcm.edu GRCh37 6 106967752 106967752 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369066.3:c.1445T>C p.Val482Ala p.V482A ENST00000369066 NM_001624.2 482 gTt/gCt 0 Missense_Mutation T 60 AIM1 SNP 6 T C 107074445 107074445 Baylor AP3B2 8120 hgsc.bcm.edu GRCh37 15 83333172 83333172 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261722.3:c.2151G>T p.Glu717Asp p.E717D ENST00000261722 NM_004644.4 717 gaG/gaT 0 Missense_Mutation C 20 AP3B2 SNP 15 C A 81130227 81130227 Baylor ATP11C 286410 hgsc.bcm.edu GRCh37 X 138844133 138844133 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000327569.3:c.2636A>T p.Tyr879Phe p.Y879F ENST00000327569 NM_173694.4 879 tAc/tTc 0 Missense_Mutation T 57 ATP11C SNP 23 T A 138671799 138671799 Baylor ATP1B4 23439 hgsc.bcm.edu GRCh37 X 119496025 119496025 + start_lost Translation_Start_Site SNP T T G novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000218008.3:c.2T>G p.Met1? p.M1? ENST00000218008 NM_001142447.2 1 aTg/aGg 0 Missense_Mutation T 51 ATP1B4 SNP 23 T G 119380053 119380053 Baylor BAMBI 25805 hgsc.bcm.edu GRCh37 10 28971114 28971114 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375533.3:c.567G>C p.Gln189His p.Q189H ENST00000375533 NM_012342.2 189 caG/caC 0 Missense_Mutation G 33 BAMBI SNP 10 G C 29011120 29011120 Baylor BPTF 2186 hgsc.bcm.edu GRCh37 17 65907943 65907943 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000306378.6:c.3943del p.Ile1315PhefsTer18 p.I1315Ffs*18 ENST00000306378 NM_182641.3 1315 Att/tt 0 Frame_Shift_Del A 8 BPTF DEL 17 A - 63338405 63338405 Baylor BTBD3 22903 hgsc.bcm.edu GRCh37 20 11903653 11903653 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000405977.1:c.908C>A p.Ala303Glu p.A303E ENST00000405977 NM_001282554.1 303 gCg/gAg 0 Missense_Mutation C 27 BTBD3 SNP 20 C A 11851653 11851653 Baylor C11orf30 56946 hgsc.bcm.edu GRCh37 11 76174958 76174958 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000529032.1:c.665A>T p.Lys222Met p.K222M ENST00000529032 222 aAg/aTg 0 Missense_Mutation A 3 C11orf30 SNP 11 A T 75852606 75852606 Baylor C17orf75 64149 hgsc.bcm.edu GRCh37 17 30658938 30658938 + stop_gained Nonsense_Mutation SNP A A C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000577809.1:c.1035T>G p.Tyr345Ter p.Y345* ENST00000577809 NM_022344.3 345 taT/taG 0 Nonsense_Mutation A 8 C17orf75 SNP 17 A C 27683051 27683051 Baylor OSCP1 127700 hgsc.bcm.edu GRCh37 1 36888393 36888393 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000235532.5:c.725G>A p.Arg242Gln p.R242Q ENST00000235532 NM_145047.4 242 cGa/cAa 0 Missense_Mutation C 31 OSCP1 SNP 1 C T 36660980 36660980 Baylor CDH17 1015 hgsc.bcm.edu GRCh37 8 95206875 95206875 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000027335.3:c.39T>A p.Leu13= p.L13= ENST00000027335 NM_004063.3 13 ctT/ctA 0 Silent A 13 CDH17 SNP 8 A T 95276051 95276051 Baylor CENPP 401541 hgsc.bcm.edu GRCh37 9 95142143 95142143 + splice_donor_variant Splice_Site SNP T T A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375587.3:c.564+2T>A p.X188_splice ENST00000375587 NM_001012267.1 0 Splice_Site_SNP T 57 CENPP SNP 9 T A 94181964 94181964 Baylor CHMP4A 29082 hgsc.bcm.edu GRCh37 14 24679121 24679121 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000347519.6:c.760G>A p.Glu254Lys p.E254K ENST00000347519 NM_014169.3 254 Gaa/Aaa 0 Missense_Mutation C 29 CHMP4A SNP 14 C T 23748961 23748961 Baylor CIITA 4261 hgsc.bcm.edu GRCh37 16 11001421 11001421 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000324288.8:c.2072C>A p.Ala691Asp p.A691D ENST00000324288 NM_000246.3 691 gCc/gAc 0 Missense_Mutation C 26 CIITA SNP 16 C A 10908922 10908922 Baylor CNTN2 6900 hgsc.bcm.edu GRCh37 1 205039084 205039084 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000331830.4:c.2326G>C p.Glu776Gln p.E776Q ENST00000331830 NM_005076.3 776 Gag/Cag 0 Missense_Mutation G 37 CNTN2 SNP 1 G C 203305707 203305707 Baylor CTNND2 1501 hgsc.bcm.edu GRCh37 5 11159781 11159781 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000304623.8:c.2066C>A p.Pro689His p.P689H ENST00000304623 NM_001332.2 689 cCc/cAc 0 Missense_Mutation G 43 CTNND2 SNP 5 G T 11212781 11212781 Baylor DCC 1630 hgsc.bcm.edu GRCh37 18 50734186 50734186 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000442544.2:c.1860C>T p.Asp620= p.D620= ENST00000442544 NM_005215.3 620 gaC/gaT 0 Silent C 19 DCC SNP 18 C T 48988184 48988184 Baylor DCHS1 8642 hgsc.bcm.edu GRCh37 11 6652624 6652624 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000299441.3:c.3690G>C p.Val1230= p.V1230= ENST00000299441 NM_003737.2 1230 gtG/gtC 0 Silent C 25 DCHS1 SNP 11 C G 6609200 6609200 Baylor DCHS1 8642 hgsc.bcm.edu GRCh37 11 6661596 6661596 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000299441.3:c.1249del p.Gln417LysfsTer24 p.Q417Kfs*24 ENST00000299441 NM_003737.2 417 Caa/aa 0 Frame_Shift_Del G 47 DCHS1 DEL 11 G - 6618172 6618172 Baylor DLG1 1739 hgsc.bcm.edu GRCh37 3 196863492 196863492 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000346964.2:c.1040G>A p.Ser347Asn p.S347N ENST00000346964 NM_004087.2 347 aGc/aAc 0 Missense_Mutation C 28 DLG1 SNP 3 C T 198347889 198347889 Baylor DPYSL3 1809 hgsc.bcm.edu GRCh37 5 146777313 146777313 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000343218.5:c.1719G>A p.Leu573= p.L573= ENST00000343218 NM_001197294.1 573 ctG/ctA 0 Silent C 25 DPYSL3 SNP 5 C T 146757506 146757506 Baylor DRG2 1819 hgsc.bcm.edu GRCh37 17 18003901 18003901 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000225729.3:c.559A>G p.Ile187Val p.I187V ENST00000225729 NM_001388.4 187 Atc/Gtc 0 Missense_Mutation A 8 DRG2 SNP 17 A G 17944626 17944626 Baylor EYA1 2138 hgsc.bcm.edu GRCh37 8 72128997 72128997 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000340726.3:c.1290G>T p.Trp430Cys p.W430C ENST00000340726 NM_000503.4 430 tgG/tgT 0 Missense_Mutation C 30 EYA1 SNP 8 C A 72291551 72291551 Baylor FSIP1 161835 hgsc.bcm.edu GRCh37 15 39910272 39910272 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000350221.3:c.1363G>T p.Glu455Ter p.E455* ENST00000350221 NM_152597.4 455 Gaa/Taa 0 Nonsense_Mutation C 29 FSIP1 SNP 15 C A 37697564 37697564 Baylor G6PD 2539 hgsc.bcm.edu GRCh37 X 153760229 153760229 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393562.2:c.1624C>T p.Pro542Ser p.P542S ENST00000393562 NM_000402.3 542 Ccc/Tcc 0 Missense_Mutation G 43 G6PD SNP 23 G A 153413423 153413423 Baylor G6PD 2539 hgsc.bcm.edu GRCh37 X 153760260 153760260 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393562.2:c.1593C>G p.Phe531Leu p.F531L ENST00000393562 NM_000402.3 531 ttC/ttG 0 Missense_Mutation G 41 G6PD SNP 23 G C 153413454 153413454 Baylor GAB2 9846 hgsc.bcm.edu GRCh37 11 77930447 77930447 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361507.4:c.1902C>G p.Ser634= p.S634= ENST00000361507 NM_080491.2 634 tcC/tcG 0 Silent G 39 GAB2 SNP 11 G C 77608095 77608095 Baylor GOLGA1 2800 hgsc.bcm.edu GRCh37 9 127644214 127644214 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373555.4:c.1985A>G p.Glu662Gly p.E662G ENST00000373555 NM_002077.3 662 gAg/gGg 0 Missense_Mutation T 54 GOLGA1 SNP 9 T C 126684035 126684035 Baylor GP2 2813 hgsc.bcm.edu GRCh37 16 20335522 20335522 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381362.4:c.151C>G p.Pro51Ala p.P51A ENST00000381362 NM_001007240.1 51 Cct/Gct 0 Missense_Mutation G 41 GP2 SNP 16 G C 20243023 20243023 Baylor GPRASP1 9737 hgsc.bcm.edu GRCh37 X 101911422 101911423 + frameshift_variant Frame_Shift_Del DEL GG GG - novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 GG GG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000537097.1:c.2581_2582del p.Gly861LeufsTer2 p.G861Lfs*2 ENST00000537097 NM_001184727.1 861 GGc/c 0 Frame_Shift_Del GG 39 GPRASP1 DEL 23 GG - 101798079 101798078 Baylor HMCN2 256158 hgsc.bcm.edu GRCh37 9 133226873 133226873 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000420499.2:c.470C>T p.Thr157= p.T157= ENST00000420499 157 acC/acT 0 Silent C 23 HMCN2 SNP 9 C T 132216694 132216694 Baylor KIAA2022 340533 hgsc.bcm.edu GRCh37 X 73959309 73959309 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000055682.6:c.4482del p.Ala1495GlnfsTer39 p.A1495Qfs*39 ENST00000055682 NM_001008537.2 1494 aaA/aa 0 Frame_Shift_Del T 56 KIAA2022 DEL 23 T - 73876034 73876034 Baylor LAIR1 3903 hgsc.bcm.edu GRCh37 19 54868159 54868159 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000391742.2:c.524T>A p.Leu175His p.L175H ENST00000391742 175 cTc/cAc 0 Missense_Mutation A 11 LAIR1 SNP 19 A T 59559971 59559971 Baylor LIPK 643414 hgsc.bcm.edu GRCh37 10 90492016 90492016 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000404190.1:c.504C>T p.Tyr168= p.Y168= ENST00000404190 NM_001080518.1 168 taC/taT 0 Silent C 19 LIPK SNP 10 C T 90481996 90481996 Baylor LRRC15 131578 hgsc.bcm.edu GRCh37 3 194080860 194080860 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000439944.2:c.931A>G p.Ile311Val p.I311V ENST00000439944 NM_001135057.2 311 Atc/Gtc 0 Missense_Mutation T 51 LRRC15 SNP 3 T C 195562155 195562155 Baylor MAGI1 9223 hgsc.bcm.edu GRCh37 3 65342580 65342580 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000402939.2:c.3862A>G p.Lys1288Glu p.K1288E ENST00000402939 NM_001033057.1 1288 Aaa/Gaa 0 Missense_Mutation T 62 MAGI1 SNP 3 T C 65317620 65317620 Baylor MCM2 4171 hgsc.bcm.edu GRCh37 3 127323825 127323825 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265056.7:c.499A>G p.Met167Val p.M167V ENST00000265056 NM_004526.3 167 Atg/Gtg 0 Missense_Mutation A 12 MCM2 SNP 3 A G 128806515 128806515 Baylor MED24 9862 hgsc.bcm.edu GRCh37 17 38209850 38209850 + start_lost Translation_Start_Site SNP A A T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000394128.2:c.2T>A p.Met1? p.M1? ENST00000394128 NM_014815.3 1 aTg/aAg 0 Missense_Mutation A 8 MED24 SNP 17 A T 35463376 35463376 Baylor MKL1 57591 hgsc.bcm.edu GRCh37 22 40816954 40816954 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355630.3:c.778G>C p.Ala260Pro p.A260P ENST00000355630 NM_020831.3 260 Gcc/Ccc 0 Indel C 27 MKL1 Indel 22 C G 39146900 39146900 Baylor MYH11 4629 hgsc.bcm.edu GRCh37 16 15854405 15854405 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000396324.3:c.1261A>G p.Lys421Glu p.K421E ENST00000396324 NM_001040114.1 421 Aaa/Gaa 0 Missense_Mutation T 64 MYH11 SNP 16 T C 15761906 15761906 Baylor NDUFS4 4724 hgsc.bcm.edu GRCh37 5 52856548 52856548 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000296684.5:c.56C>G p.Ala19Gly p.A19G ENST00000296684 NM_002495.2 19 gCa/gGa 0 Missense_Mutation C 25 NDUFS4 SNP 5 C G 52892305 52892305 Baylor NPC1 4864 hgsc.bcm.edu GRCh37 18 21127975 21127975 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269228.5:c.1752A>G p.Glu584= p.E584= ENST00000269228 NM_000271.4 584 gaA/gaG 0 Silent T 64 NPC1 SNP 18 T C 19381973 19381973 Baylor NPHS1 4868 hgsc.bcm.edu GRCh37 19 36333388 36333388 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378910.5:c.2399G>A p.Arg800His p.R800H ENST00000378910 NM_004646.3 800 cGc/cAc 0 Missense_Mutation C 27 NPHS1 SNP 19 C T 41025228 41025228 Baylor P2RY10 27334 hgsc.bcm.edu GRCh37 X 78216070 78216070 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000171757.2:c.53C>G p.Thr18Ser p.T18S ENST00000171757 NM_014499.2 18 aCc/aGc 0 Missense_Mutation C 18 P2RY10 SNP 23 C G 78102726 78102726 Baylor PCDHB5 26167 hgsc.bcm.edu GRCh37 5 140517381 140517381 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000231134.5:c.2365C>T p.Arg789Trp p.R789W ENST00000231134 NM_015669.2 789 Cgg/Tgg 0 Missense_Mutation C 23 PCDHB5 SNP 5 C T 140497565 140497565 Baylor PCDHGC4 56098 hgsc.bcm.edu GRCh37 5 140866490 140866490 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000306593.1:c.1750G>C p.Val584Leu p.V584L ENST00000306593 NM_018928.2 584 Gtt/Ctt 0 Missense_Mutation G 36 PCDHGC4 SNP 5 G C 140846674 140846674 Baylor PCGF1 84759 hgsc.bcm.edu GRCh37 2 74732316 74732316 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000233630.6:c.734C>T p.Pro245Leu p.P245L ENST00000233630 NM_032673.2 245 cCa/cTa 0 Missense_Mutation G 47 PCGF1 SNP 2 G A 74585824 74585824 Baylor PFKP 5214 hgsc.bcm.edu GRCh37 10 3178690 3178690 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381125.4:c.2274G>A p.Met758Ile p.M758I ENST00000381125 NM_002627.4 758 atG/atA 0 Missense_Mutation G 45 PFKP SNP 10 G A 3168690 3168690 Baylor PHC1 1911 hgsc.bcm.edu GRCh37 12 9073656 9073656 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000543824.1:c.301G>A p.Ala101Thr p.A101T ENST00000543824 101 Gcc/Acc 0 Missense_Mutation G 42 PHC1 SNP 12 G A 8964923 8964923 Baylor PHF21A 51317 hgsc.bcm.edu GRCh37 11 45967431 45967431 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000418153.2:c.1409C>A p.Pro470His p.P470H ENST00000418153 470 cCt/cAt 0 Missense_Mutation G 35 PHF21A SNP 11 G T 45924007 45924007 Baylor PIGZ 80235 hgsc.bcm.edu GRCh37 3 196675226 196675226 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000412723.1:c.542A>T p.Glu181Val p.E181V ENST00000412723 NM_025163.3 181 gAg/gTg 0 Missense_Mutation T 54 PIGZ SNP 3 T A 198159623 198159623 Baylor PIK3CG 5294 hgsc.bcm.edu GRCh37 7 106509339 106509339 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359195.3:c.1333G>T p.Ala445Ser p.A445S ENST00000359195 NM_002649.2 445 Gcc/Tcc 0 Missense_Mutation G 42 PIK3CG SNP 7 G T 106296575 106296575 Baylor PRKCZ 5590 hgsc.bcm.edu GRCh37 1 2082293 2082293 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378567.3:c.752A>C p.Asp251Ala p.D251A ENST00000378567 NM_002744.4 251 gAc/gCc 0 Missense_Mutation A 10 PRKCZ SNP 1 A C 2072153 2072153 Baylor PRKDC 5591 hgsc.bcm.edu GRCh37 8 48772284 48772284 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000314191.2:c.6092C>T p.Ala2031Val p.A2031V ENST00000314191 NM_006904.6 2031 gCa/gTa 0 Missense_Mutation G 46 PRKDC SNP 8 G A 48934837 48934837 Baylor PYGM 5837 hgsc.bcm.edu GRCh37 11 64522773 64522773 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000164139.3:c.827T>C p.Ile276Thr p.I276T ENST00000164139 NM_005609.2 276 aTc/aCc 0 Missense_Mutation A 12 PYGM SNP 11 A G 64279349 64279349 Baylor SIKE1 80143 hgsc.bcm.edu GRCh37 1 115323057 115323057 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369528.5:c.171+1G>T p.X57_splice ENST00000369528 NM_025073.2 0 Splice_Site_SNP C 18 SIKE1 SNP 1 C A 115124580 115124580 Baylor RXFP4 339403 hgsc.bcm.edu GRCh37 1 155912014 155912021 + frameshift_variant Frame_Shift_Del DEL GTGACGGT GTGACGGT - novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 GTGACGGT GTGACGGT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368318.3:c.515_522del p.Val172AlafsTer10 p.V172Afs*10 ENST00000368318 NM_181885.2 172 GTGACGGTg/g 0 Frame_Shift_Del GTGACGGT 44 RXFP4 DEL 1 GTGACGGT - 154178645 154178638 Baylor SCN2B 6327 hgsc.bcm.edu GRCh37 11 118039458 118039458 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000278947.5:c.79G>A p.Gly27Arg p.G27R ENST00000278947 NM_004588.4 27 Gga/Aga 0 Missense_Mutation C 24 SCN2B SNP 11 C T 117544668 117544668 Baylor SCUBE2 57758 hgsc.bcm.edu GRCh37 11 9055246 9055246 + intron_variant Intron SNP A A C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000520467.1:c.2003-2774T>G *668* ENST00000520467 NM_020974.2 0 Missense_Mutation A 6 SCUBE2 SNP 11 A C 9011822 9011822 Baylor SERPINA4 5267 hgsc.bcm.edu GRCh37 14 95030260 95030260 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000557004.1:c.441C>A p.His147Gln p.H147Q ENST00000557004 147 caC/caA 0 Missense_Mutation C 17 SERPINA4 SNP 14 C A 94100013 94100013 Baylor SERPINA4 5267 hgsc.bcm.edu GRCh37 14 95030398 95030398 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000557004.1:c.579G>C p.Lys193Asn p.K193N ENST00000557004 193 aaG/aaC 0 Missense_Mutation G 33 SERPINA4 SNP 14 G C 94100151 94100151 Baylor SCAF11 9169 hgsc.bcm.edu GRCh37 12 46342315 46342315 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369367.3:c.303A>T p.Gln101His p.Q101H ENST00000369367 NM_004719.2 101 caA/caT 0 Missense_Mutation T 56 SRSF2IP SNP 12 T A 44628582 44628582 Baylor SH2B1 25970 hgsc.bcm.edu GRCh37 16 28884009 28884009 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000322610.8:c.1880C>T p.Ser627Phe p.S627F ENST00000322610 627 tCc/tTc 0 Missense_Mutation C 30 SH2B1 SNP 16 C T 28791510 28791510 Baylor SLC22A10 387775 hgsc.bcm.edu GRCh37 11 63064806 63064806 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000332793.6:c.538T>C p.Leu180= p.L180= ENST00000332793 NM_001039752.3 180 Ttg/Ctg 0 Silent T 64 SLC22A10 SNP 11 T C 62821382 62821382 Baylor SUPT5H 6829 hgsc.bcm.edu GRCh37 19 39955515 39955515 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000599117.1:c.702C>A p.His234Gln p.H234Q ENST00000599117 234 caC/caA 0 Missense_Mutation C 19 SUPT5H SNP 19 C A 44647355 44647355 Baylor TARBP1 6894 hgsc.bcm.edu GRCh37 1 234553916 234553916 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000040877.1:c.3619A>G p.Ile1207Val p.I1207V ENST00000040877 NM_005646.3 1207 Ata/Gta 0 Missense_Mutation T 51 TARBP1 SNP 1 T C 232620539 232620539 Baylor TET3 200424 hgsc.bcm.edu GRCh37 2 74326701 74326703 + inframe_deletion In_Frame_Del DEL AGG AGG - novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 AGG AGG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000409262.3:c.3164_3166del p.Glu1055del p.E1055del ENST00000409262 NM_144993.1 1054 cAGGag/cag 0 In_Frame_Del AGG 7 TET3 DEL 2 AGG - 74180211 74180209 Baylor THAP10 56906 hgsc.bcm.edu GRCh37 15 71174913 71174913 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000249861.4:c.654A>G p.Arg218= p.R218= ENST00000249861 NM_020147.3 218 agA/agG 0 Silent T 62 THAP10 SNP 15 T C 68961967 68961967 Baylor TMEM126B 55863 hgsc.bcm.edu GRCh37 11 85347228 85347228 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358867.6:c.648T>C p.Tyr216= p.Y216= ENST00000358867 NM_018480.4 216 taT/taC 0 Silent T 51 TMEM126B SNP 11 T C 85024876 85024876 Baylor TMEM136 219902 hgsc.bcm.edu GRCh37 11 120198134 120198134 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000314475.2:c.50G>A p.Trp17Ter p.W17* ENST00000314475 NM_001198670.1 17 tGg/tAg 0 Nonsense_Mutation G 47 TMEM136 SNP 11 G A 119703344 119703344 Baylor TMX1 81542 hgsc.bcm.edu GRCh37 14 51707029 51707029 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000457354.2:c.19C>G p.Leu7Val p.L7V ENST00000457354 NM_030755.4 7 Ctt/Gtt 0 Missense_Mutation C 32 TMX1 SNP 14 C G 50776779 50776779 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577566 7577567 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269305.4:c.714dupT p.Asn239Ter p.N239* ENST00000269305 NM_001126112.2 238 -/T 0 Frame_Shift_Ins - 61 TP53 INS 17 - A 7518292 7518291 Baylor UNC5C 8633 hgsc.bcm.edu GRCh37 4 96140248 96140248 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000453304.1:c.1517C>T p.Thr506Ile p.T506I ENST00000453304 NM_003728.3 506 aCc/aTc 0 Missense_Mutation G 44 UNC5C SNP 4 G A 96359271 96359271 Baylor VIPR2 7434 hgsc.bcm.edu GRCh37 7 158935206 158935206 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262178.2:c.83A>T p.His28Leu p.H28L ENST00000262178 NM_003382.4 28 cAt/cTt 0 Missense_Mutation T 51 VIPR2 SNP 7 T A 158627967 158627967 Baylor ZDHHC24 254359 hgsc.bcm.edu GRCh37 11 66311275 66311275 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0792-01 TCGA-13-0792-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310442.3:c.459C>A p.Val153= p.V153= ENST00000310442 NM_207340.1 153 gtC/gtA 0 Silent G 33 ZDHHC24 SNP 11 G T 66067851 66067851 Baylor TMCO2 127391 broad.mit.edu GRCh37 1 40717246 40717246 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000372766.3:c.529G>C p.Gly177Arg p.G177R ENST00000372766 NM_001008740.3 177 Ggg/Cgg 0 Missense_Mutation G 35 TMCO2 SNP 1 G C 40489833 40489833 Broad RPS8 6202 broad.mit.edu GRCh37 1 45243437 45243437 + synonymous_variant Silent SNP G G T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000396651.3:c.363G>T p.Leu121= p.L121= ENST00000396651 121 ctG/ctT 0 Silent G 47 RPS8 SNP 1 G T 45016024 45016024 Broad OSBPL9 114883 broad.mit.edu GRCh37 1 52179728 52179728 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000447887.1:c.295C>A p.Leu99Ile p.L99I ENST00000447887 99 Ctt/Att 0 Missense_Mutation C 32 OSBPL9 SNP 1 C A 51952316 51952316 Broad EPS8L3 79574 broad.mit.edu GRCh37 1 110302310 110302310 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000369805.3:c.245T>C p.Ile82Thr p.I82T ENST00000369805 NM_139053.2 82 aTt/aCt 0 Missense_Mutation A 4 EPS8L3 SNP 1 A G 110103833 110103833 Broad OLFML2B 25903 broad.mit.edu GRCh37 1 161970050 161970051 + missense_variant Missense_Mutation DNP CC CC AA novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000294794.3:c.801_802delinsTT p.Ala268Ser p.A268S ENST00000294794 NM_015441.1 267 ctGGct/ctTTct 0 Missense_Mutation CC 26 OLFML2B DNP 1 CC AA 160236675 160236674 Broad SLC26A9 115019 broad.mit.edu GRCh37 1 205904883 205904883 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000367134.2:c.66T>A p.Asp22Glu p.D22E ENST00000367134 NM_134325.2 22 gaT/gaA 0 Missense_Mutation A 8 SLC26A9 SNP 1 A T 204171506 204171506 Broad HLX 3142 broad.mit.edu GRCh37 1 221053253 221053253 + synonymous_variant Silent SNP G G T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000366903.6:c.54G>T p.Ser18= p.S18= ENST00000366903 NM_021958.3 18 tcG/tcT 0 Silent G 39 HLX SNP 1 G T 219119876 219119876 Broad LRRC18 474354 broad.mit.edu GRCh37 10 50122131 50122131 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000374160.3:c.70A>T p.Ile24Phe p.I24F ENST00000374160 NM_001006939.3 24 Atc/Ttc 0 Missense_Mutation T 52 LRRC18 SNP 10 T A 49792137 49792137 Broad BMPR1A 657 broad.mit.edu GRCh37 10 88651963 88651963 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000372037.3:c.310G>A p.Glu104Lys p.E104K ENST00000372037 NM_004329.2 104 Gaa/Aaa 0 Missense_Mutation G 45 BMPR1A SNP 10 G A 88641943 88641943 Broad OR5J2 282775 broad.mit.edu GRCh37 11 55944594 55944594 + synonymous_variant Silent SNP C C G novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000312298.1:c.501C>G p.Ser167= p.S167= ENST00000312298 NM_001005492.1 167 tcC/tcG 0 Silent C 24 OR5J2 SNP 11 C G 55701170 55701170 Broad STIP1 10963 broad.mit.edu GRCh37 11 63962067 63962067 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000305218.4:c.478C>T p.Arg160Ter p.R160* ENST00000305218 NM_006819.2 160 Cga/Tga 0 Nonsense_Mutation C 19 STIP1 SNP 11 C T 63718643 63718643 Broad ACTN3 89 broad.mit.edu GRCh37 11 66330572 66330572 + downstream_gene_variant 3'Flank SNP C C A novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000310325 NM_003793.3 0 Missense_Mutation C 23 ACTN3 SNP 11 C A 66087148 66087148 Broad SLC36A4 120103 broad.mit.edu GRCh37 11 92901196 92901196 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000326402.4:c.682G>C p.Glu228Gln p.E228Q ENST00000326402 NM_152313.2 228 Gaa/Caa 0 Missense_Mutation C 29 SLC36A4 SNP 11 C G 92540844 92540844 Broad CD163L1 283316 broad.mit.edu GRCh37 12 7522197 7522197 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000313599.3:c.3795C>T p.Gly1265= p.G1265= ENST00000313599 1265 ggC/ggT 0 Silent G 34 CD163L1 SNP 12 G A 7413464 7413464 Broad CNTN1 1272 broad.mit.edu GRCh37 12 41408099 41408099 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000551295.2:c.2183C>T p.Ala728Val p.A728V ENST00000551295 NM_001843.3 728 gCg/gTg 0 Missense_Mutation C 27 CNTN1 SNP 12 C T 39694366 39694366 Broad VDR 7421 broad.mit.edu GRCh37 12 48251311 48251311 + synonymous_variant Silent SNP G G C novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000550325.1:c.588C>G p.Thr196= p.T196= ENST00000550325 NM_001017536.1 196 acC/acG 0 Silent G 35 VDR SNP 12 G C 46537578 46537578 Broad PAH 5053 broad.mit.edu GRCh37 12 103246708 103246708 + stop_gained Nonsense_Mutation SNP G G A rs5030846 Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000553106.1:c.727C>T p.Arg243Ter p.R243* ENST00000553106 NM_000277.1 243 Cga/Tga 0 Nonsense_Mutation G 39 PAH SNP 12 G A 101770838 101770838 Broad CRY1 1407 broad.mit.edu GRCh37 12 107393837 107393837 + synonymous_variant Silent SNP T T C novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000008527.5:c.708A>G p.Arg236= p.R236= ENST00000008527 NM_004075.4 236 agA/agG 0 Silent T 58 CRY1 SNP 12 T C 105917967 105917967 Broad OR4K15 81127 broad.mit.edu GRCh37 14 20444054 20444054 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000305051.5:c.377T>A p.Phe126Tyr p.F126Y ENST00000305051 NM_001005486.1 126 tTc/tAc 0 Missense_Mutation T 62 OR4K15 SNP 14 T A 19513894 19513894 Broad PROX2 283571 broad.mit.edu GRCh37 14 75329537 75329537 + intron_variant Intron SNP A A T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000556084.2:c.732+269T>A *244* ENST00000556084 NM_001080408.2 0 Nonsense_Mutation A 5 PROX2 SNP 14 A T 74399290 74399290 Broad TTBK2 146057 broad.mit.edu GRCh37 15 43044268 43044268 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000267890.6:c.3176G>A p.Trp1059Ter p.W1059* ENST00000267890 NM_173500.3 1059 tGg/tAg 0 Nonsense_Mutation C 21 TTBK2 SNP 15 C T 40831560 40831560 Broad ISL2 64843 broad.mit.edu GRCh37 15 76630310 76630310 + splice_donor_variant Splice_Site SNP T T C novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000290759.4:c.248+2T>C p.X83_splice ENST00000290759 NM_145805.1 0 Splice_Site_SNP T 59 ISL2 SNP 15 T C 74417365 74417365 Broad NTRK3 4916 broad.mit.edu GRCh37 15 88476380 88476380 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000360948.2:c.1752T>A p.Asp584Glu p.D584E ENST00000360948 NM_001012338.2 584 gaT/gaA 0 Missense_Mutation A 4 NTRK3 SNP 15 A T 86277384 86277384 Broad OR2C1 4993 broad.mit.edu GRCh37 16 3406249 3406249 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000304936.2:c.309C>T p.Val103= p.V103= ENST00000304936 NM_012368.2 103 gtC/gtT 0 Silent C 32 OR2C1 SNP 16 C T 3346250 3346250 Broad JPH3 57338 broad.mit.edu GRCh37 16 87678297 87678297 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000284262.2:c.816G>T p.Glu272Asp p.E272D ENST00000284262 NM_020655.3 272 gaG/gaT 0 Missense_Mutation G 34 JPH3 SNP 16 G T 86235798 86235798 Broad STAT3 6774 broad.mit.edu GRCh37 17 40498702 40498702 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000264657.5:c.158C>G p.Ala53Gly p.A53G ENST00000264657 NM_139276.2 53 gCc/gGc 0 Missense_Mutation G 42 STAT3 SNP 17 G C 37752228 37752228 Broad FZD2 2535 broad.mit.edu GRCh37 17 42635860 42635860 + synonymous_variant Silent SNP A A G novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000315323.3:c.804A>G p.Val268= p.V268= ENST00000315323 NM_001466.3 268 gtA/gtG 0 Silent A 15 FZD2 SNP 17 A G 39991386 39991386 Broad MGAT5B 146664 broad.mit.edu GRCh37 17 74878256 74878256 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000428789.2:c.238G>A p.Gly80Ser p.G80S ENST00000428789 NM_198955.1 80 Ggc/Agc 0 Missense_Mutation G 39 MGAT5B SNP 17 G A 72389851 72389851 Broad SUPT5H 6829 broad.mit.edu GRCh37 19 39944005 39944005 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000599117.1:c.85G>T p.Glu29Ter p.E29* ENST00000599117 29 Gag/Tag 0 Nonsense_Mutation G 33 SUPT5H SNP 19 G T 44635845 44635845 Broad CEACAM1 634 broad.mit.edu GRCh37 19 43025455 43025455 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000161559.6:c.922T>G p.Cys308Gly p.C308G ENST00000161559 NM_001712.4 308 Tgc/Ggc 0 Missense_Mutation A 7 CEACAM1 SNP 19 A C 47717295 47717295 Broad SYMPK 8189 broad.mit.edu GRCh37 19 46338388 46338388 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000245934.7:c.1341G>A p.Lys447= p.K447= ENST00000245934 NM_004819.2 447 aaG/aaA 0 Silent C 28 SYMPK SNP 19 C T 51030228 51030228 Broad ZNF415 55786 broad.mit.edu GRCh37 19 53619603 53619603 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000500065.4:c.99T>G p.Asp33Glu p.D33E ENST00000500065 NM_001136038.2 33 gaT/gaG 0 Missense_Mutation A 8 ZNF415 SNP 19 A C 58311415 58311415 Broad PRKCE 5581 broad.mit.edu GRCh37 2 46228562 46228562 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000306156.3:c.843C>T p.His281= p.H281= ENST00000306156 NM_005400.2 281 caC/caT 0 Silent C 18 PRKCE SNP 2 C T 46082066 46082066 Broad VWA3B 200403 broad.mit.edu GRCh37 2 98920176 98920176 + synonymous_variant Silent SNP T T A novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000477737.1:c.3432T>A p.Pro1144= p.P1144= ENST00000477737 NM_144992.4 1144 ccT/ccA 0 Silent T 54 VWA3B SNP 2 T A 98286608 98286608 Broad TTN 7273 broad.mit.edu GRCh37 2 179399085 179399085 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000589042.1:c.102257G>C p.Arg34086Thr p.R34086T ENST00000589042 NM_001267550.1 34086 aGa/aCa 0 Missense_Mutation C 32 TTN SNP 2 C G 179107331 179107331 Broad DIDO1 11083 broad.mit.edu GRCh37 20 61513252 61513252 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000266070.4:c.4056C>T p.Asp1352= p.D1352= ENST00000266070 NM_033081.2 1352 gaC/gaT 0 Silent G 40 DIDO1 SNP 20 G A 60983697 60983697 Broad NPBWR2 2832 broad.mit.edu GRCh37 20 62738077 62738077 + synonymous_variant Silent SNP G G T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000369768.1:c.108C>A p.Thr36= p.T36= ENST00000369768 NM_005286.2 36 acC/acA 0 Silent G 35 NPBWR2 SNP 20 G T 62208521 62208521 Broad SLC26A6 65010 broad.mit.edu GRCh37 3 48670956 48670956 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000395550.2:c.136C>A p.Arg46Ser p.R46S ENST00000395550 46 Cgc/Agc 0 Missense_Mutation G 38 SLC26A6 SNP 3 G T 48645960 48645960 Broad C3orf22 152065 broad.mit.edu GRCh37 3 126270868 126270868 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000318225.2:c.187G>T p.Val63Leu p.V63L ENST00000318225 NM_152533.1 63 Gtg/Ttg 0 Missense_Mutation C 18 C3orf22 SNP 3 C A 127753558 127753558 Broad ACAD11 84129 broad.mit.edu GRCh37 3 132363656 132363656 + synonymous_variant Silent SNP A A G novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000264990.6:c.234T>C p.Leu78= p.L78= ENST00000264990 NM_032169.4 78 ctT/ctC 0 Silent A 9 ACAD11 SNP 3 A G 133846346 133846346 Broad KY 339855 broad.mit.edu GRCh37 3 134339676 134339676 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000423778.2:c.507C>T p.Asp169= p.D169= ENST00000423778 NM_178554.4 169 gaC/gaT 0 Silent G 40 KY SNP 3 G A 135822366 135822366 Broad KCNAB1 7881 broad.mit.edu GRCh37 3 156232199 156232199 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000490337.1:c.705G>A p.Met235Ile p.M235I ENST00000490337 NM_172160.2 235 atG/atA 0 Missense_Mutation G 48 KCNAB1 SNP 3 G A 157714893 157714893 Broad ANKRD17 26057 broad.mit.edu GRCh37 4 74019693 74019693 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000358602.4:c.1138G>A p.Val380Met p.V380M ENST00000358602 NM_032217.3 380 Gtg/Atg 0 Missense_Mutation C 17 ANKRD17 SNP 4 C T 74238557 74238557 Broad GALNTL6 442117 broad.mit.edu GRCh37 4 173730669 173730669 + synonymous_variant Silent SNP C C A novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000506823.1:c.711C>A p.Val237= p.V237= ENST00000506823 NM_001034845.2 237 gtC/gtA 0 Silent C 29 GALNTL6 SNP 4 C A 173967244 173967244 Broad BTN3A1 11119 broad.mit.edu GRCh37 6 26406166 26406166 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000289361.6:c.115C>T p.Pro39Ser p.P39S ENST00000289361 NM_001145009.1 39 Ccc/Tcc 0 Missense_Mutation C 26 BTN3A1 SNP 6 C T 26514145 26514145 Broad PRRC2A 7916 broad.mit.edu GRCh37 6 31595940 31595940 + synonymous_variant Silent SNP G G T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000376033.2:c.1689G>T p.Val563= p.V563= ENST00000376033 NM_004638.3 563 gtG/gtT 0 Silent G 47 BAT2 SNP 6 G T 31703919 31703919 Broad SYNGAP1 8831 broad.mit.edu GRCh37 6 33400020 33400020 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000418600.2:c.378C>T p.Phe126= p.F126= ENST00000418600 NM_006772.2 126 ttC/ttT 0 Silent C 30 SYNGAP1 SNP 6 C T 33507998 33507998 Broad PKHD1 5314 broad.mit.edu GRCh37 6 51701201 51701201 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000371117.3:c.8173+1G>T p.X2725_splice ENST00000371117 NM_138694.3 0 Splice_Site_SNP C 18 PKHD1 SNP 6 C A 51809160 51809160 Broad BEND3 57673 broad.mit.edu GRCh37 6 107419800 107419800 + synonymous_variant Silent SNP C C G novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000429433.2:c.195G>C p.Leu65= p.L65= ENST00000429433 NM_001080450.2 65 ctG/ctC 0 Silent C 25 BEND3 SNP 6 C G 107526493 107526493 Broad PNLDC1 154197 broad.mit.edu GRCh37 6 160240313 160240313 + synonymous_variant Silent SNP G G C novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000610273.1:c.1428G>C p.Arg476= p.R476= ENST00000610273 NM_173516.2 476 cgG/cgC 0 Silent G 43 PNLDC1 SNP 6 G C 160160303 160160303 Broad HIP1 3092 broad.mit.edu GRCh37 7 75183482 75183482 + synonymous_variant Silent SNP G G C novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000336926.6:c.2088C>G p.Ala696= p.A696= ENST00000336926 NM_005338.6 696 gcC/gcG 0 Silent G 43 HIP1 SNP 7 G C 75021418 75021418 Broad FAM180A 389558 broad.mit.edu GRCh37 7 135418868 135418868 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000338588.3:c.377C>G p.Thr126Arg p.T126R ENST00000338588 NM_205855.3 126 aCa/aGa 0 Missense_Mutation G 48 FAM180A SNP 7 G C 135069408 135069408 Broad TNKS 8658 broad.mit.edu GRCh37 8 9610113 9610113 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000310430.6:c.3130C>T p.Arg1044Trp p.R1044W ENST00000310430 NM_003747.2 1044 Cgg/Tgg 0 Missense_Mutation C 31 TNKS SNP 8 C T 9647523 9647523 Broad LGI3 203190 broad.mit.edu GRCh37 8 22006036 22006036 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000306317.2:c.1284C>A p.His428Gln p.H428Q ENST00000306317 NM_139278.2 428 caC/caA 0 Missense_Mutation G 36 LGI3 SNP 8 G T 22061981 22061981 Broad ANK1 286 broad.mit.edu GRCh37 8 41580729 41580729 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000265709.8:c.922C>A p.Pro308Thr p.P308T ENST00000265709 NM_001142446.1 308 Cct/Act 0 Missense_Mutation G 44 ANK1 SNP 8 G T 41699886 41699886 Broad CHD7 55636 broad.mit.edu GRCh37 8 61778184 61778184 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000423902.2:c.8686T>C p.Ser2896Pro p.S2896P ENST00000423902 NM_017780.3 2896 Tcc/Ccc 0 Missense_Mutation T 58 CHD7 SNP 8 T C 61940738 61940738 Broad SLCO5A1 81796 broad.mit.edu GRCh37 8 70585335 70585335 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000260126.4:c.2316G>C p.Gln772His p.Q772H ENST00000260126 NM_030958.2 772 caG/caC 0 Missense_Mutation C 32 SLCO5A1 SNP 8 C G 70747889 70747889 Broad ADAMTSL1 92949 broad.mit.edu GRCh37 9 18906802 18906802 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000380548.4:c.5074G>T p.Val1692Leu p.V1692L ENST00000380548 NM_001040272.5 1692 Gtg/Ttg 0 Missense_Mutation G 48 ADAMTSL1 SNP 9 G T 18896802 18896802 Broad HAUS6 54801 broad.mit.edu GRCh37 9 19063008 19063008 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000380502.3:c.1627G>A p.Glu543Lys p.E543K ENST00000380502 NM_017645.4 543 Gag/Aag 0 Missense_Mutation C 32 HAUS6 SNP 9 C T 19053008 19053008 Broad NOL6 65083 broad.mit.edu GRCh37 9 33466615 33466615 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000297990.4:c.2043G>A p.Leu681= p.L681= ENST00000297990 NM_022917.4 681 ctG/ctA 0 Silent C 29 NOL6 SNP 9 C T 33456615 33456615 Broad CCIN 881 broad.mit.edu GRCh37 9 36170503 36170503 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000335119.2:c.1004C>A p.Thr335Asn p.T335N ENST00000335119 NM_005893.2 335 aCc/aAc 0 Missense_Mutation C 18 CCIN SNP 9 C A 36160503 36160503 Broad HIATL1 84641 broad.mit.edu GRCh37 9 97207275 97207275 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000375344.3:c.540C>T p.Val180= p.V180= ENST00000375344 NM_032558.2 180 gtC/gtT 0 Silent C 29 HIATL1 SNP 9 C T 96247096 96247096 Broad USP26 83844 broad.mit.edu GRCh37 X 132160330 132160330 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2354-01 TCGA-59-2354-11 Unknown Unknown Unknown x x x ENST00000511190.1:c.1919C>G p.Ser640Cys p.S640C ENST00000511190 NM_031907.1 640 tCt/tGt 0 Missense_Mutation G 33 USP26 SNP 23 G C 131987996 131987996 Broad P2RX1 5023 genome.wustl.edu GRCh37 17 3801133 3801133 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000225538.3:c.1175T>G p.Leu392Arg p.L392R ENST00000225538 NM_002558.3 392 cTg/cGg 0 Missense_Mutation A 7 P2RX1 SNP 17 C C 3747882 3747882 WashU ADCY9 115 genome.wustl.edu GRCh37 16 4015908 4015908 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000294016.3:c.3930A>T p.Arg1310Ser p.R1310S ENST00000294016 NM_001116.3 1310 agA/agT 0 Missense_Mutation T 58 ADCY9 SNP 16 T A 3955909 3955909 WashU LYAR 55646 genome.wustl.edu GRCh37 4 4285450 4285450 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000343470.4:c.20A>G p.Asn7Ser p.N7S ENST00000343470 NM_017816.2 7 aAt/aGt 0 Missense_Mutation T 52 LYAR SNP 4 T C 4336351 4336351 WashU ADAMTS16 170690 genome.wustl.edu GRCh37 5 5186221 5186221 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000274181.7:c.820T>C p.Cys274Arg p.C274R ENST00000274181 NM_139056.2 274 Tgc/Cgc 0 Missense_Mutation T 63 ADAMTS16 SNP 5 T C 5239221 5239221 WashU C7orf26 79034 genome.wustl.edu GRCh37 7 6639732 6639732 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344417.5:c.853C>G p.Leu285Val p.L285V ENST00000344417 NM_024067.2 285 Ctc/Gtc 0 Missense_Mutation C 24 C7orf26 SNP 7 G G 6606257 6606257 WashU CCZ1B 221960 genome.wustl.edu GRCh37 7 6864116 6864116 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000316731.8:c.282T>G p.Asn94Lys p.N94K ENST00000316731 NM_198097.3 94 aaT/aaG 0 Missense_Mutation A 8 C7orf28B SNP 7 A C 6830641 6830641 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577117 7577117 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.821T>A p.Val274Asp p.V274D ENST00000269305 NM_001126112.2 274 gTt/gAt 0 Missense_Mutation A 2 TP53 SNP 17 A T 7517842 7517842 WashU RP11-1396O13.13 genome.wustl.edu GRCh37 4 9386275 9386275 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000508324.1:c.369A>T p.Glu123Asp p.E123D ENST00000508324 123 gaA/gaT 0 Missense_Mutation T 56 ENSG00000219492 SNP 4 T A 8995373 8995373 WashU COL5A3 50509 genome.wustl.edu GRCh37 19 10071135 10071135 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000264828.3:c.5190G>A p.Thr1730= p.T1730= ENST00000264828 NM_015719.3 1730 acG/acA 0 Silent C 31 COL5A3 SNP 19 C T 9932135 9932135 WashU ATP2B2 491 genome.wustl.edu GRCh37 3 10370704 10370704 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000360273.2:c.3526G>T p.Glu1176Ter p.E1176* ENST00000360273 NM_001001331.2 1176 Gaa/Taa 0 Nonsense_Mutation C 31 ATP2B2 SNP 3 A A 10345704 10345704 WashU TAS2R9 50835 genome.wustl.edu GRCh37 12 10962049 10962049 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000240691.2:c.626C>A p.Thr209Asn p.T209N ENST00000240691 NM_023917.2 209 aCc/aAc 0 Missense_Mutation G 44 TAS2R9 SNP 12 T T 10853316 10853316 WashU QDPR 5860 genome.wustl.edu GRCh37 4 17506060 17506060 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000281243.5:c.237G>T p.Lys79Asn p.K79N ENST00000281243 NM_000320.2 79 aaG/aaT 0 Missense_Mutation C 24 QDPR SNP 4 A A 17115158 17115158 WashU SPECC1 92521 genome.wustl.edu GRCh37 17 20107754 20107754 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261503.5:c.392C>T p.Ser131Leu p.S131L ENST00000261503 NM_001033553.2 131 tCa/tTa 0 Missense_Mutation C 29 CYTSB SNP 17 C T 20048346 20048346 WashU DNAH3 55567 genome.wustl.edu GRCh37 16 20974702 20974702 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000261383.3:c.10504G>T p.Glu3502Ter p.E3502* ENST00000261383 NM_017539.1 3502 Gaa/Taa 0 Nonsense_Mutation C 31 DNAH3 SNP 16 C A 20882203 20882203 WashU KCNJ8 3764 genome.wustl.edu GRCh37 12 21919537 21919537 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000240662.2:c.395T>C p.Leu132Pro p.L132P ENST00000240662 NM_004982.3 132 cTc/cCc 0 Missense_Mutation A 11 KCNJ8 SNP 12 A G 21810804 21810804 WashU SCNN1B 6338 genome.wustl.edu GRCh37 16 23388515 23388515 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000343070.2:c.1300G>A p.Val434Met p.V434M ENST00000343070 NM_000336.2 434 Gtg/Atg 0 Missense_Mutation G 40 SCNN1B SNP 16 A A 23296016 23296016 WashU ZNRF3 84133 genome.wustl.edu GRCh37 22 29445294 29445294 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000544604.2:c.1125C>G p.Thr375= p.T375= ENST00000544604 NM_001206998.1 375 acC/acG 0 Silent C 21 ZNRF3 SNP 22 C G 27775294 27775294 WashU WDR43 23160 genome.wustl.edu GRCh37 2 29164333 29164333 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000407426.3:c.1627G>C p.Asp543His p.D543H ENST00000407426 NM_015131.1 543 Gac/Cac 0 Missense_Mutation G 45 WDR43 SNP 2 G C 29017837 29017837 WashU OR2J2 26707 genome.wustl.edu GRCh37 6 29142330 29142331 + missense_variant Missense_Mutation DNP GG GG TT novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 GG GG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000377167.2:c.918_919delinsTT p.Leu306_Gly307delinsPheTrp p.L306_G307delinsFW ENST00000377167 NM_030905.2 306 ttGGgg/ttTTgg 0 Missense_Mutation GG 47 OR2J2 DNP 6 GG TT 29250310 29250309 WashU OR5V1 81696 genome.wustl.edu GRCh37 6 29231528 29231528 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000377164.1:n.329G>T *110* ENST00000377164 0 Missense_Mutation C 17 OR5V1 SNP 6 C A 29339507 29339507 WashU ZNF341 84905 genome.wustl.edu GRCh37 20 32354838 32354838 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000342427.2:c.1383G>C p.Lys461Asn p.K461N ENST00000342427 NM_032819.3 461 aaG/aaC 0 Missense_Mutation G 33 ZNF341 SNP 20 G C 31818499 31818499 WashU ACACA 31 genome.wustl.edu GRCh37 17 35454849 35454849 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000353139.5:c.6636A>G p.Leu2212= p.L2212= ENST00000353139 NM_198834.1 2212 ctA/ctG 0 Silent T 61 ACACA SNP 17 T C 32528962 32528962 WashU ANLN 54443 genome.wustl.edu GRCh37 7 36483373 36483373 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265748.2:c.2980G>C p.Glu994Gln p.E994Q ENST00000265748 NM_018685.2 994 Gaa/Caa 0 Missense_Mutation G 45 ANLN SNP 7 G C 36449898 36449898 WashU C11orf74 119710 genome.wustl.edu GRCh37 11 36654977 36654977 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000532470.2:c.280T>G p.Leu94Val p.L94V ENST00000532470 94 Ttg/Gtg 0 Missense_Mutation T 64 C11orf74 SNP 11 T G 36611553 36611553 WashU EIF2AK2 5610 genome.wustl.edu GRCh37 2 37374945 37374945 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000233057.4:c.5C>G p.Ala2Gly p.A2G ENST00000233057 NM_001135651.2 2 gCt/gGt 0 Missense_Mutation G 34 EIF2AK2 SNP 2 G C 37228449 37228449 WashU FYB 2533 genome.wustl.edu GRCh37 5 39202733 39202733 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000540520.1:c.360G>A p.Leu120= p.L120= ENST00000540520 NM_001243093.1 120 ctG/ctA 0 Silent C 29 FYB SNP 5 C T 39238490 39238490 WashU LPIN3 64900 genome.wustl.edu GRCh37 20 39978941 39978941 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000373257.3:c.1006G>T p.Asp336Tyr p.D336Y ENST00000373257 NM_022896.1 336 Gac/Tac 0 Missense_Mutation G 41 LPIN3 SNP 20 G T 39412355 39412355 WashU LRFN2 57497 genome.wustl.edu GRCh37 6 40359689 40359689 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000338305.6:c.2363C>T p.Thr788Met p.T788M ENST00000338305 NM_020737.1 788 aCg/aTg 0 Missense_Mutation G 40 LRFN2 SNP 6 G A 40467667 40467667 WashU RPL37 6167 genome.wustl.edu GRCh37 5 40835298 40835298 + 5_prime_UTR_variant 5'UTR SNP C C T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000274242.5:c.-11G>A *4* ENST00000274242 NM_000997.4 0 Silent C 27 RPL37 SNP 5 C T 40871055 40871055 WashU IPP 3652 genome.wustl.edu GRCh37 1 46193341 46193341 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000396478.3:c.1010G>T p.Gly337Val p.G337V ENST00000396478 NM_005897.2 337 gGa/gTa 0 Missense_Mutation C 30 IPP SNP 1 C A 45965928 45965928 WashU LRCH1 23143 genome.wustl.edu GRCh37 13 47260084 47260084 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000389797.3:c.730A>G p.Lys244Glu p.K244E ENST00000389797 NM_001164211.1 244 Aaa/Gaa 0 Missense_Mutation A 5 LRCH1 SNP 13 A G 46158085 46158085 WashU CYP4A11 1579 genome.wustl.edu GRCh37 1 47398661 47398661 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310638.4:c.1281C>A p.Asn427Lys p.N427K ENST00000310638 NM_000778.3 427 aaC/aaA 0 Missense_Mutation G 44 CYP4A11 SNP 1 G T 47171248 47171248 WashU RPGRIP1L 23322 genome.wustl.edu GRCh37 16 53692358 53692358 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000379925.3:c.1369G>C p.Asp457His p.D457H ENST00000379925 NM_015272.2 457 Gat/Cat 0 Missense_Mutation C 29 RPGRIP1L SNP 16 G G 52249859 52249859 WashU IRX3 79191 genome.wustl.edu GRCh37 16 54319105 54319105 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000329734.3:c.688G>C p.Glu230Gln p.E230Q ENST00000329734 NM_024336.2 230 Gag/Cag 0 Missense_Mutation C 30 IRX3 SNP 16 G G 52876606 52876606 WashU EPX 8288 genome.wustl.edu GRCh37 17 56280666 56280666 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000225371.5:c.1933C>T p.Arg645Ter p.R645* ENST00000225371 NM_000502.4 645 Cga/Tga 0 Nonsense_Mutation C 23 EPX SNP 17 C T 53635665 53635665 WashU DDX5 1655 genome.wustl.edu GRCh37 17 62496288 62496288 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000225792.5:c.1598G>C p.Gly533Ala p.G533A ENST00000225792 NM_004396.3 533 gGt/gCt 0 Missense_Mutation C 18 DDX5 SNP 17 C G 59926750 59926750 WashU DIDO1 11083 genome.wustl.edu GRCh37 20 61538627 61538627 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000266070.4:c.1246G>A p.Asp416Asn p.D416N ENST00000266070 NM_033081.2 416 Gac/Aac 0 Missense_Mutation C 29 DIDO1 SNP 20 C T 61009072 61009072 WashU EEF1G 1937 genome.wustl.edu GRCh37 11 62341305 62341305 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000329251.4:c.10G>T p.Gly4Trp p.G4W ENST00000329251 NM_001404.4 4 Ggg/Tgg 0 Missense_Mutation C 21 EEF1G SNP 11 C A 62097881 62097881 WashU ZNF606 80095 genome.wustl.edu GRCh37 19 58489968 58489968 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341164.4:c.2080C>T p.His694Tyr p.H694Y ENST00000341164 NM_025027.3 694 Cac/Tac 0 Missense_Mutation G 45 ZNF606 SNP 19 G A 63181780 63181780 WashU EHD1 10938 genome.wustl.edu GRCh37 11 64627584 64627584 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000320631.3:c.727A>T p.Ile243Phe p.I243F ENST00000320631 NM_006795.2 243 Atc/Ttc 0 Missense_Mutation T 50 EHD1 SNP 11 T A 64384160 64384160 WashU PGM2L1 283209 genome.wustl.edu GRCh37 11 74056676 74056676 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000298198.4:c.1056C>T p.Phe352= p.F352= ENST00000298198 NM_173582.3 352 ttC/ttT 0 Silent G 45 PGM2L1 SNP 11 G A 73734324 73734324 WashU TPRKB 51002 genome.wustl.edu GRCh37 2 73961607 73961607 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000272424.5:c.90A>G p.Arg30= p.R30= ENST00000272424 NM_016058.2 30 agA/agG 0 Silent T 62 TPRKB SNP 2 T C 73815115 73815115 WashU CAMK2G 818 genome.wustl.edu GRCh37 10 75609090 75609090 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000322680.3:c.343C>G p.His115Asp p.H115D ENST00000322680 NM_172170.4 115 Cac/Gac 0 Missense_Mutation G 47 CAMK2G SNP 10 G C 75279096 75279096 WashU MYO7A 4647 genome.wustl.edu GRCh37 11 76900457 76900457 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000409709.3:c.3572G>T p.Gly1191Val p.G1191V ENST00000409709 NM_000260.3 1191 gGc/gTc 0 Missense_Mutation G 42 MYO7A SNP 11 G T 76578105 76578105 WashU TRABD2A 129293 genome.wustl.edu GRCh37 2 85097742 85097742 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000335459.5:c.276C>A p.Asp92Glu p.D92E ENST00000335459 NM_001080824.2 92 gaC/gaA 0 Missense_Mutation G 44 LOC129293 SNP 2 G T 84951253 84951253 WashU KIAA0825 285600 genome.wustl.edu GRCh37 5 93859674 93859674 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000329378.7:c.261C>G p.Phe87Leu p.F87L ENST00000329378 NM_173665.2 87 ttC/ttG 0 Missense_Mutation G 45 C5orf36 SNP 5 G C 93885430 93885430 WashU C12orf42 374470 genome.wustl.edu GRCh37 12 103696127 103696127 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000378113.2:c.842C>T p.Ala281Val p.A281V ENST00000378113 NM_001278419.1 281 gCg/gTg 0 Missense_Mutation G 38 C12orf42 SNP 12 G A 102220257 102220257 WashU TRIM8 81603 genome.wustl.edu GRCh37 10 104417026 104417026 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000302424.7:c.1571G>C p.Trp524Ser p.W524S ENST00000302424 NM_030912.2 524 tGg/tCg 0 Missense_Mutation G 47 TRIM8 SNP 10 G C 104407016 104407016 WashU KIAA1324 57535 genome.wustl.edu GRCh37 1 109745807 109745807 + 3_prime_UTR_variant 3'UTR SNP T T C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000369939.3:c.*173T>C *58* ENST00000369939 NM_020775.4 0 Missense_Mutation T 55 KIAA1324 SNP 1 T C 109547330 109547330 WashU DPP10 57628 genome.wustl.edu GRCh37 2 116534805 116534805 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393147.2:c.1255G>A p.Val419Met p.V419M ENST00000393147 NM_001178034.1 419 Gtg/Atg 0 Missense_Mutation G 40 DPP10 SNP 2 G A 116251275 116251275 WashU POTEI 653269 genome.wustl.edu GRCh37 2 131221058 131221058 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000451531.2:c.2559G>A p.Met853Ile p.M853I ENST00000451531 NM_001277406.1 853 atG/atA 0 Missense_Mutation C 21 LOC653269 SNP 2 C T 130937528 130937528 WashU POTEKP 440915 genome.wustl.edu GRCh37 2 132381544 132381544 + splice_acceptor_variant,non_coding_transcript_variant Splice_Site SNP A A G novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000420985.4:n.1608-2A>G p.X536_splice ENST00000420985 0 Splice_Site_SNP A 13 POTEKP SNP 2 A G 132098014 132098014 WashU RAB3GAP1 22930 genome.wustl.edu GRCh37 2 135926294 135926294 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000442034.1:c.2910C>T p.Leu970= p.L970= ENST00000442034 NM_001172435.1 970 ctC/ctT 0 Silent C 29 RAB3GAP1 SNP 2 C T 135642764 135642764 WashU TXLNB 167838 genome.wustl.edu GRCh37 6 139564322 139564322 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000358430.3:c.1396A>T p.Lys466Ter p.K466* ENST00000358430 NM_153235.3 466 Aag/Tag 0 Nonsense_Mutation T 64 TXLNB SNP 6 T A 139606015 139606015 WashU PCDHB12 56124 genome.wustl.edu GRCh37 5 140588530 140588530 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000239450.2:c.51C>G p.Phe17Leu p.F17L ENST00000239450 NM_018932.3 17 ttC/ttG 0 Missense_Mutation C 32 PCDHB12 SNP 5 C G 140568714 140568714 WashU PCDHGA2 56113 genome.wustl.edu GRCh37 5 140718609 140718609 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000394576.2:c.71G>C p.Trp24Ser p.W24S ENST00000394576 NM_018915.2 24 tGg/tCg 0 Missense_Mutation G 47 PCDHGA2 SNP 5 G C 140698793 140698793 WashU PPIAL4G 644591 genome.wustl.edu GRCh37 1 143767441 143767441 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000419275.1:c.408G>A p.Val136= p.V136= ENST00000419275 NM_001123068.1 136 gtG/gtA 0 Silent C 29 PPIAL4G SNP 1 C T 142558964 142558964 WashU PEX3 8504 genome.wustl.edu GRCh37 6 143792585 143792585 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000367591.4:c.522T>A p.Asp174Glu p.D174E ENST00000367591 NM_003630.2 174 gaT/gaA 0 Missense_Mutation T 51 PEX3 SNP 6 T A 143834278 143834278 WashU ITGA10 8515 genome.wustl.edu GRCh37 1 145535772 145535772 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000369304.3:c.1960G>C p.Val654Leu p.V654L ENST00000369304 NM_003637.3 654 Gtg/Ctg 0 Missense_Mutation G 44 ITGA10 SNP 1 G C 144247129 144247129 WashU ZNF862 643641 genome.wustl.edu GRCh37 7 149545320 149545320 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000223210.4:c.738G>T p.Gly246= p.G246= ENST00000223210 NM_001099220.1 246 ggG/ggT 0 Silent G 42 ZNF862 SNP 7 G T 149176253 149176253 WashU GIMAP1 170575 genome.wustl.edu GRCh37 7 150417456 150417456 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000307194.5:c.364G>T p.Gly122Cys p.G122C ENST00000307194 NM_130759.3 122 Ggt/Tgt 0 Missense_Mutation G 43 GIMAP1 SNP 7 G T 150048389 150048389 WashU TKTL1 8277 genome.wustl.edu GRCh37 X 153543601 153543601 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000369915.3:c.943G>A p.Asp315Asn p.D315N ENST00000369915 NM_012253.3 315 Gac/Aac 0 Missense_Mutation G 45 TKTL1 SNP 23 A A 153196795 153196795 WashU KIF4B 285643 genome.wustl.edu GRCh37 5 154395557 154395557 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000435029.4:c.2138G>T p.Arg713Leu p.R713L ENST00000435029 NM_001099293.1 713 cGa/cTa 0 Missense_Mutation G 37 KIF4B SNP 5 G T 154375750 154375750 WashU TENM2 57451 genome.wustl.edu GRCh37 5 167671470 167671470 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000518659.1:c.5566C>G p.Arg1856Gly p.R1856G ENST00000518659 NM_001122679.1 1856 Cgg/Ggg 0 Missense_Mutation C 31 ODZ2 SNP 5 C G 167604048 167604048 WashU TTN 7273 genome.wustl.edu GRCh37 2 179398820 179398820 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.102522C>G p.Val34174= p.V34174= ENST00000589042 NM_001267550.1 34174 gtC/gtG 0 Missense_Mutation G 41 TTN SNP 2 G C 179107066 179107066 WashU KLKB1 3818 genome.wustl.edu GRCh37 4 187155191 187155191 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000264690.6:c.307C>A p.Gln103Lys p.Q103K ENST00000264690 NM_000892.3 103 Caa/Aaa 0 Missense_Mutation C 25 KLKB1 SNP 4 C A 187392185 187392185 WashU ASPM 259266 genome.wustl.edu GRCh37 1 197072049 197072049 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367409.4:c.6332G>A p.Arg2111Lys p.R2111K ENST00000367409 NM_018136.4 2111 aGa/aAa 0 Missense_Mutation C 32 ASPM SNP 1 C T 195338672 195338672 WashU CRB1 23418 genome.wustl.edu GRCh37 1 197297783 197297783 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000367400.3:c.302G>C p.Gly101Ala p.G101A ENST00000367400 NM_201253.2 101 gGg/gCg 0 Missense_Mutation G 43 CRB1 SNP 1 G C 195564406 195564406 WashU HHAT 55733 genome.wustl.edu GRCh37 1 210591516 210591516 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000545154.1:c.706G>A p.Asp236Asn p.D236N ENST00000545154 NM_001170587.1 236 Gac/Aac 0 Missense_Mutation G 45 HHAT SNP 1 G A 208658139 208658139 WashU KCNH1 3756 genome.wustl.edu GRCh37 1 210856770 210856770 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000271751.4:c.2823C>T p.Asn941= p.N941= ENST00000271751 941 aaC/aaT 0 Silent G 40 KCNH1 SNP 1 G A 208923393 208923393 WashU MAP10 54627 genome.wustl.edu GRCh37 1 232942303 232942303 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000418460.1:c.1534C>G p.Pro512Ala p.P512A ENST00000418460 NM_019090.2 512 Cca/Gca 0 Missense_Mutation C 30 KIAA1383 SNP 1 C G 231008926 231008926 WashU RYR2 6262 genome.wustl.edu GRCh37 1 237993891 237993891 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366574.2:c.14717A>T p.Glu4906Val p.E4906V ENST00000366574 NM_001035.2 4906 gAa/gTa 0 Missense_Mutation A 9 RYR2 SNP 1 A T 236060514 236060514 WashU NF1 4763 genome.wustl.edu GRCh37 17 29486075 29486093 + frameshift_variant Frame_Shift_Del DEL GATTATATTGGATACACTG GATTATATTGGATACACTG - novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 GATTATATTGGATACACTG GATTATATTGGATACACTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000358273.4:c.254_272del p.Ile85LysfsTer12 p.I85Kfs*12 ENST00000358273 NM_001042492.2 84 ttGATTATATTGGATACACTG/tt 0 Frame_Shift_Del GATTATATTGGATACACTG 45 NF1 DEL 17 GATTATATTGGATACACTG - 26510219 26510201 WashU DAAM2 23500 genome.wustl.edu GRCh37 6 39835375 39835386 + inframe_deletion In_Frame_Del DEL TCCACACCTCAC TCCACACCTCAC - novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 TCCACACCTCAC TCCACACCTCAC TCCACACCTCAC - TCCACACCTCAC TCCACACCTCAC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398904.2:c.520_531del p.His174_Leu177del p.H174_L177del ENST00000398904 173 aTCCACACCTCACtc/atc 0 In_Frame_Del TCCACACCTCAC 50 DAAM2 DEL 6 TCCACACCTCAC - 39943364 39943353 WashU RB1 5925 genome.wustl.edu GRCh37 13 48955540 48955555 + frameshift_variant Frame_Shift_Del DEL ATGTGAACATCGAATC ATGTGAACATCGAATC - novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 ATGTGAACATCGAATC ATGTGAACATCGAATC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000267163.4:c.1659_1674del p.Cys553TrpfsTer53 p.C553Wfs*53 ENST00000267163 NM_000321.2 552 cgATGTGAACATCGAATC/cg 0 Frame_Shift_Del ATGTGAACATCGAATC 12 RB1 DEL 13 ATGTGAACATCGAATC - 47853556 47853541 WashU AKNAD1 254268 genome.wustl.edu GRCh37 1 109391611 109391613 + inframe_deletion In_Frame_Del DEL AAG AAG - novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 AAG AAG AAG - AAG AAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370001.3:c.1103_1105del p.Ser368del p.S368del ENST00000370001 NM_152763.4 368 tCTTac/tac 0 In_Frame_Del AAG 13 AKNAD1 DEL 1 AAG - 109193136 109193134 WashU SP100 6672 genome.wustl.edu GRCh37 2 231311566 231311568 + inframe_deletion In_Frame_Del DEL GAA GAA - novel Unknown TCGA-24-1463-01 TCGA-24-1463-10 GAA GAA GAA - GAA GAA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340126.4:c.480_482del p.Glu161del p.E161del ENST00000340126 NM_001080391.1 158 GAA/- 0 In_Frame_Del GAA 45 SP100 DEL 2 GAA - 231019812 231019810 WashU CDH26 60437 hgsc.bcm.edu GRCh37 20 58587784 58587784 + frameshift_variant,stop_lost Frame_Shift_Del DEL A A - novel Unknown TCGA-57-1583-01 TCGA-57-1583-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000348616.4:c.*8delA *833fs ENST00000348616 NM_177980.2 833 tAa/ta 0 Frame_Shift_Del A 13 CDH26 DEL 20 A - 58021179 58021179 Baylor COL14A1 7373 hgsc.bcm.edu GRCh37 8 121222033 121222033 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-57-1583-01 TCGA-57-1583-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000297848.3:c.1360G>A p.Val454Met p.V454M ENST00000297848 NM_021110.2 454 Gtg/Atg 0 Missense_Mutation G 40 COL14A1 SNP 8 G A 121291214 121291214 Baylor GPATCH8 23131 hgsc.bcm.edu GRCh37 17 42476174 42476174 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-57-1583-01 TCGA-57-1583-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000591680.1:c.3271A>G p.Lys1091Glu p.K1091E ENST00000591680 NM_001002909.2 1091 Aaa/Gaa 0 Missense_Mutation T 63 GPATCH8 SNP 17 T C 39831700 39831700 Baylor GPC2 221914 hgsc.bcm.edu GRCh37 7 99773200 99773200 + synonymous_variant Silent SNP G G A novel Unknown TCGA-57-1583-01 TCGA-57-1583-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000292377.2:c.643C>T p.Leu215= p.L215= ENST00000292377 NM_152742.1 215 Ctg/Ttg 0 Silent G 35 GPC2 SNP 7 G A 99611136 99611136 Baylor CCDC180 100499483 hgsc.bcm.edu GRCh37 9 100079450 100079450 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-57-1583-01 TCGA-57-1583-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000375202.2:c.1031G>A p.Trp344Ter p.W344* ENST00000375202 344 tGg/tAg 0 Nonsense_Mutation G 47 KIAA1529 SNP 9 G A 99119271 99119271 Baylor LEMD3 23592 hgsc.bcm.edu GRCh37 12 65564257 65564258 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-57-1583-01 TCGA-57-1584-11 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000308330.2:c.887dupC p.Leu297AlafsTer4 p.L297Afs*4 ENST00000308330 NM_014319.4 294 ctc/ctCc 0 Frame_Shift_Ins - 54 LEMD3 INS 12 - C 63850525 63850524 Baylor MEGF10 84466 hgsc.bcm.edu GRCh37 5 126755842 126755842 + synonymous_variant Silent SNP C C T novel Unknown TCGA-57-1583-01 TCGA-57-1583-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000274473.6:c.1533C>T p.Asp511= p.D511= ENST00000274473 NM_032446.2 511 gaC/gaT 0 Silent C 19 MEGF10 SNP 5 C T 126783741 126783741 Baylor PRPF31 26121 hgsc.bcm.edu GRCh37 19 54631496 54631496 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-57-1583-01 TCGA-57-1583-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000321030.4:c.994del p.Gln332ArgfsTer6 p.Q332Rfs*6 ENST00000321030 NM_015629.3 332 Cag/ag 0 Frame_Shift_Del C 25 PRPF31 DEL 19 C - 59323308 59323308 Baylor SELE 6401 hgsc.bcm.edu GRCh37 1 169701026 169701026 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-57-1583-01 TCGA-57-1583-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000333360.7:c.479A>G p.Asn160Ser p.N160S ENST00000333360 NM_000450.2 160 aAt/aGt 0 Missense_Mutation T 52 SELE SNP 1 T C 167967650 167967650 Baylor ST3GAL2 6483 hgsc.bcm.edu GRCh37 16 70415734 70415734 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1583-01 TCGA-57-1583-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393640.4:c.911G>A p.Arg304Gln p.R304Q ENST00000393640 304 cGg/cAg 0 Missense_Mutation C 23 ST3GAL2 SNP 16 C T 68973235 68973235 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577594 7577595 + frameshift_variant Frame_Shift_Del DEL AC AC - novel Unknown TCGA-57-1583-01 TCGA-57-1583-11 AC AC . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.686_687delGT p.Cys229TyrfsTer10 p.C229Yfs*10 ENST00000269305 NM_001126112.2 229 tGT/t 0 Frame_Shift_Del AC 14 TP53 DEL 17 AC - 7518320 7518319 Baylor WNT11 7481 hgsc.bcm.edu GRCh37 11 75898143 75898143 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1583-01 TCGA-57-1583-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000322563.3:c.1031G>A p.Cys344Tyr p.C344Y ENST00000322563 NM_004626.2 344 tGt/tAt 0 Missense_Mutation C 17 WNT11 SNP 11 C T 75575791 75575791 Baylor CHL1 10752 genome.wustl.edu GRCh37 3 443318 443318 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256509.2:c.3395A>T p.Lys1132Met p.K1132M ENST00000256509 NM_001253388.1 1132 aAg/aTg 0 Missense_Mutation A 3 CHL1 SNP 3 A T 418318 418318 WashU SDCBP2 27111 genome.wustl.edu GRCh37 20 1301033 1301033 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360779.3:c.28G>C p.Asp10His p.D10H ENST00000360779 NM_080489.4 10 Gac/Cac 0 Missense_Mutation C 30 SDCBP2 SNP 20 C G 1249033 1249033 WashU SLC23A2 9962 genome.wustl.edu GRCh37 20 4883179 4883179 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379333.1:c.233G>C p.Ser78Thr p.S78T ENST00000379333 NM_203327.1 78 aGc/aCc 0 Missense_Mutation C 28 SLC23A2 SNP 20 C G 4831179 4831179 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578235 7578235 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.614A>G p.Tyr205Cys p.Y205C ENST00000269305 NM_001126112.2 205 tAt/tGt 0 Missense_Mutation T 49 TP53 SNP 17 C C 7518960 7518960 WashU STK33 65975 genome.wustl.edu GRCh37 11 8414132 8414132 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000447869.1:c.1470G>A p.Val490= p.V490= ENST00000447869 490 gtG/gtA 0 Silent C 29 STK33 SNP 11 C T 8370708 8370708 WashU DOCK6 57572 genome.wustl.edu GRCh37 19 11311437 11311437 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294618.7:c.5894G>A p.Arg1965Gln p.R1965Q ENST00000294618 NM_020812.3 1965 cGg/cAg 0 Missense_Mutation C 23 DOCK6 SNP 19 C T 11172437 11172437 WashU DNAH9 1770 genome.wustl.edu GRCh37 17 11808979 11808979 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262442.4:c.11602G>T p.Asp3868Tyr p.D3868Y ENST00000262442 NM_001372.3 3868 Gat/Tat 0 Missense_Mutation G 33 DNAH9 SNP 17 G T 11749704 11749704 WashU LIPI 149998 genome.wustl.edu GRCh37 21 15535806 15535806 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344577.2:c.1003A>T p.Arg335Trp p.R335W ENST00000344577 NM_198996.2 335 Agg/Tgg 0 Missense_Mutation T 56 LIPI SNP 21 T A 14457677 14457677 WashU CYP4F3 4051 genome.wustl.edu GRCh37 19 15756570 15756570 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000221307.8:c.240G>A p.Leu80= p.L80= ENST00000221307 NM_000896.2 80 ctG/ctA 0 Silent G 47 CYP4F3 SNP 19 G A 15617570 15617570 WashU SATB1 6304 genome.wustl.edu GRCh37 3 18436359 18436359 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000417717.2:c.801C>G p.Val267= p.V267= ENST00000417717 NM_001195470.1 267 gtC/gtG 0 Silent G 45 SATB1 SNP 3 G C 18411363 18411363 WashU SEC23B 10483 genome.wustl.edu GRCh37 20 18496360 18496360 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336714.3:c.346A>C p.Thr116Pro p.T116P ENST00000336714 NM_032985.4 116 Aca/Cca 0 Missense_Mutation A 14 SEC23B SNP 20 A C 18444360 18444360 WashU OR4L1 122742 genome.wustl.edu GRCh37 14 20529108 20529108 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315683.1:c.905G>T p.Arg302Leu p.R302L ENST00000315683 NM_001004717.1 302 cGg/cTg 0 Missense_Mutation G 39 OR4L1 SNP 14 G T 19598948 19598948 WashU SLCO1C1 53919 genome.wustl.edu GRCh37 12 20890148 20890149 + missense_variant Missense_Mutation DNP CA CA AG novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 CA CA CA AG CA CA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381552.1:c.1490_1491delinsAG p.Thr497Lys p.T497K ENST00000381552 497 aCA/aAG 0 Missense CA 17 SLCO1C1 DNP 12 CA AG 20781416 20781415 WashU FOXA2 3170 genome.wustl.edu GRCh37 20 22563343 22563343 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000419308.2:c.537G>T p.Gln179His p.Q179H ENST00000419308 NM_021784.4 179 caG/caT 0 Missense_Mutation C 28 FOXA2 SNP 20 C A 22511343 22511343 WashU ZNF723 genome.wustl.edu GRCh37 19 23040689 23040689 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000600766.1:n.1175G>A *392* ENST00000600766 0 Silent G 33 LOC646864 SNP 19 G A 22832529 22832529 WashU ATAD2B 54454 genome.wustl.edu GRCh37 2 24092546 24092546 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000238789.5:c.1063A>G p.Arg355Gly p.R355G ENST00000238789 NM_001242338.1 355 Aga/Gga 0 Missense_Mutation T 56 ATAD2B SNP 2 T C 23946050 23946050 WashU MFSD2B 388931 genome.wustl.edu GRCh37 2 24239080 24239080 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000406420.3:c.277G>T p.Ala93Ser p.A93S ENST00000406420 NM_001080473.1 93 Gct/Tct 0 Missense_Mutation G 42 LOC388931 SNP 2 G T 24092584 24092584 WashU GOLGA8M 653720 genome.wustl.edu GRCh37 15 28952979 28952979 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000563027.1:c.506G>A p.Arg169His p.R169H ENST00000563027 NM_001282468.1 169 cGc/cAc 0 Missense_Mutation C 27 LOC653720 SNP 15 C T 26752020 26752020 WashU GTF3C1 2975 genome.wustl.edu GRCh37 16 27509110 27509110 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356183.4:c.2198G>A p.Gly733Glu p.G733E ENST00000356183 NM_001520.3 733 gGg/gAg 0 Missense_Mutation C 22 GTF3C1 SNP 16 C T 27416611 27416611 WashU CPVL 54504 genome.wustl.edu GRCh37 7 29111387 29111387 + splice_donor_variant Splice_Site SNP A A C novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409850.1:c.864+2T>G p.X288_splice ENST00000409850 0 Splice_Site_SNP A 6 CPVL SNP 7 A C 29077912 29077912 WashU MECR 51102 genome.wustl.edu GRCh37 1 29522725 29522725 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263702.6:c.876C>T p.Pro292= p.P292= ENST00000263702 292 ccC/ccT 0 Missense_Mutation G 39 MECR SNP 1 G A 29395312 29395312 WashU ITGAL 3683 genome.wustl.edu GRCh37 16 30486634 30486634 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356798.6:c.172G>A p.Val58Met p.V58M ENST00000356798 NM_002209.2 58 Gtg/Atg 0 Missense_Mutation G 40 ITGAL SNP 16 G A 30394135 30394135 WashU LARGE 9215 genome.wustl.edu GRCh37 22 33712112 33712112 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354992.2:c.1410C>G p.Asp470Glu p.D470E ENST00000354992 NM_004737.4 470 gaC/gaG 0 Missense_Mutation G 48 LARGE SNP 22 C C 32042112 32042112 WashU NOTCH4 4855 genome.wustl.edu GRCh37 6 32188798 32188798 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375023.3:c.756G>A p.Met252Ile p.M252I ENST00000375023 NM_004557.3 252 atG/atA 0 Missense_Mutation C 25 NOTCH4 SNP 6 C T 32296776 32296776 WashU RPL7AP66 100132910 genome.wustl.edu GRCh37 18 36914917 36914917 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321566.6:n.723C>G *241* ENST00000321566 0 Missense_Mutation G 40 LOC100132910 SNP 18 C C 35168915 35168915 WashU UNC5D 137970 genome.wustl.edu GRCh37 8 35544091 35544091 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000404895.2:c.948A>G p.Glu316= p.E316= ENST00000404895 NM_080872.2 316 gaA/gaG 0 Silent A 4 UNC5D SNP 8 A G 35663633 35663633 WashU RP3-449O17.1 genome.wustl.edu GRCh37 22 38757523 38757523 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000457665.1:n.232C>T *78* ENST00000457665 0 Silent G 41 ENSG00000100181 SNP 22 A A 37087469 37087469 WashU FAM21B 55747 genome.wustl.edu GRCh37 10 47911108 47911108 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358474.5:c.976G>C p.Gly326Arg p.G326R ENST00000358474 NM_018232.1 326 Gga/Cga 0 Missense_Mutation G 35 FAM21B SNP 10 G C 47431114 47431114 WashU MOCS3 27304 genome.wustl.edu GRCh37 20 49575512 49575512 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244051.1:c.133C>A p.Pro45Thr p.P45T ENST00000244051 NM_014484.4 45 Ccg/Acg 0 Missense_Mutation C 30 MOCS3 SNP 20 C A 49008919 49008919 WashU NFATC2 4773 genome.wustl.edu GRCh37 20 50140459 50140459 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396009.3:c.321G>A p.Ser107= p.S107= ENST00000396009 NM_001258297.1 107 tcG/tcA 0 Silent C 23 NFATC2 SNP 20 C T 49573866 49573866 WashU MYO5A 4644 genome.wustl.edu GRCh37 15 52718156 52718156 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399231.3:c.326C>G p.Ala109Gly p.A109G ENST00000399231 NM_000259.3 109 gCt/gGt 0 Missense_Mutation G 34 MYO5A SNP 15 G C 50505448 50505448 WashU SLC35F4 341880 genome.wustl.edu GRCh37 14 58063464 58063464 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339762.6:c.152C>A p.Ser51Ter p.S51* ENST00000339762 51 tCa/tAa 0 Nonsense_Mutation G 45 SLC35F4 SNP 14 G T 57133217 57133217 WashU TBK1 29110 genome.wustl.edu GRCh37 12 64889316 64889316 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331710.5:c.1575A>T p.Arg525Ser p.R525S ENST00000331710 NM_013254.3 525 agA/agT 0 Missense_Mutation A 12 TBK1 SNP 12 A T 63175583 63175583 WashU CCDC88B 283234 genome.wustl.edu GRCh37 11 64111502 64111502 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356786.5:c.1489G>C p.Val497Leu p.V497L ENST00000356786 NM_032251.5 497 Gtt/Ctt 0 Missense_Mutation G 48 CCDC88B SNP 11 G C 63868078 63868078 WashU FOS 2353 genome.wustl.edu GRCh37 14 75747717 75747717 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303562.4:c.733A>C p.Asn245His p.N245H ENST00000303562 NM_005252.3 245 Aat/Cat 0 Missense_Mutation A 5 FOS SNP 14 A C 74817470 74817470 WashU MSH4 4438 genome.wustl.edu GRCh37 1 76355052 76355052 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263187.3:c.2224G>T p.Glu742Ter p.E742* ENST00000263187 NM_002440.3 742 Gag/Tag 0 Nonsense_Mutation G 33 MSH4 SNP 1 G T 76127640 76127640 WashU ZNF592 9640 genome.wustl.edu GRCh37 15 85343119 85343119 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299927.3:c.3184G>C p.Glu1062Gln p.E1062Q ENST00000299927 1062 Gag/Cag 0 Missense_Mutation G 41 ZNF592 SNP 15 G C 83144123 83144123 WashU KCMF1 56888 genome.wustl.edu GRCh37 2 85273306 85273306 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409785.4:c.506C>T p.Ser169Leu p.S169L ENST00000409785 NM_020122.4 169 tCa/tTa 0 Missense_Mutation C 29 KCMF1 SNP 2 C T 85126817 85126817 WashU IQGAP1 8826 genome.wustl.edu GRCh37 15 91019971 91019971 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268182.5:c.2861A>G p.Gln954Arg p.Q954R ENST00000268182 NM_003870.3 954 cAg/cGg 0 Missense_Mutation A 7 IQGAP1 SNP 15 G G 88820975 88820975 WashU MMP8 4317 genome.wustl.edu GRCh37 11 102587063 102587063 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000236826.3:c.872T>C p.Leu291Pro p.L291P ENST00000236826 NM_002424.2 291 cTc/cCc 0 Missense_Mutation A 11 MMP8 SNP 11 A G 102092273 102092273 WashU RGPD3 653489 genome.wustl.edu GRCh37 2 107053016 107053016 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409886.3:c.1488C>T p.Ser496= p.S496= ENST00000409886 NM_001144013.1 496 agC/agT 0 Silent G 42 RGPD3 SNP 2 G A 106419448 106419448 WashU ACACB 32 genome.wustl.edu GRCh37 12 109660684 109660684 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338432.7:c.3759G>T p.Met1253Ile p.M1253I ENST00000338432 1253 atG/atT 0 Missense_Mutation G 48 ACACB SNP 12 G T 108145067 108145067 WashU FDXACB1 91893 genome.wustl.edu GRCh37 11 111746390 111746390 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260257.4:c.1131T>A p.Phe377Leu p.F377L ENST00000260257 NM_138378.2 377 ttT/ttA 0 Missense_Mutation A 9 FDXACB1 SNP 11 A T 111251600 111251600 WashU FKBP15 23307 genome.wustl.edu GRCh37 9 115931598 115931598 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000238256.3:c.3391T>A p.Ser1131Thr p.S1131T ENST00000238256 NM_015258.1 1131 Tcc/Acc 0 Missense_Mutation A 11 FKBP15 SNP 9 A T 114971419 114971419 WashU KIAA1407 57577 genome.wustl.edu GRCh37 3 113753853 113753853 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295878.3:c.737A>T p.Glu246Val p.E246V ENST00000295878 NM_020817.1 246 gAa/gTa 0 Missense_Mutation T 62 KIAA1407 SNP 3 T A 115236543 115236543 WashU GOLGB1 2804 genome.wustl.edu GRCh37 3 121409831 121409831 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393667.3:c.8380G>A p.Ala2794Thr p.A2794T ENST00000393667 NM_001256486.1 2794 Gcc/Acc 0 Missense_Mutation C 27 GOLGB1 SNP 3 C T 122892521 122892521 WashU RC3H2 54542 genome.wustl.edu GRCh37 9 125622280 125622280 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373670.1:c.1765T>C p.Tyr589His p.Y589H ENST00000373670 589 Tat/Cat 0 Missense_Mutation A 16 RC3H2 SNP 9 A G 124662101 124662101 WashU ARHGAP36 158763 genome.wustl.edu GRCh37 X 130220567 130220567 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276211.5:c.1414C>A p.Leu472Ile p.L472I ENST00000276211 NM_144967.3 472 Ctt/Att 0 Missense_Mutation C 20 ARHGAP36 SNP 23 C A 130048248 130048248 WashU ABO 28 genome.wustl.edu GRCh37 9 136135222 136135222 + splice_donor_variant,non_coding_transcript_variant Splice_Site SNP C C T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000453660.2:n.215+1G>A p.X72_splice ENST00000453660 0 Splice_Site_SNP C 18 ABO SNP 9 C T 135125043 135125043 WashU PCDHA3 56145 genome.wustl.edu GRCh37 5 140181418 140181418 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000522353.2:c.636A>G p.Ile212Met p.I212M ENST00000522353 NM_018906.2 212 atA/atG 0 Missense_Mutation A 13 PCDHA3 SNP 5 A G 140161602 140161602 WashU HDAC3 8841 genome.wustl.edu GRCh37 5 141009426 141009426 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000305264.3:c.420+1G>T p.X140_splice ENST00000305264 NM_003883.3 0 Splice_Site_SNP C 18 HDAC3 SNP 5 C A 140989610 140989610 WashU FCRL3 115352 genome.wustl.edu GRCh37 1 157648557 157648557 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368184.3:c.2148A>G p.Glu716= p.E716= ENST00000368184 NM_052939.3 716 gaA/gaG 0 Silent T 56 FCRL3 SNP 1 T C 155915181 155915181 WashU MME 4311 genome.wustl.edu GRCh37 3 154834718 154834718 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000460393.1:c.597C>G p.Val199= p.V199= ENST00000460393 NM_007287.2 199 gtC/gtG 0 Silent C 30 MME SNP 3 C G 156317412 156317412 WashU PAPPA2 60676 genome.wustl.edu GRCh37 1 176668547 176668547 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367662.3:c.3058G>T p.Val1020Leu p.V1020L ENST00000367662 NM_020318.2 1020 Gtg/Ttg 0 Missense_Mutation G 44 PAPPA2 SNP 1 G T 174935170 174935170 WashU EVX2 344191 genome.wustl.edu GRCh37 2 176947137 176947137 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308618.4:c.468G>T p.Ser156= p.S156= ENST00000308618 NM_001080458.1 156 tcG/tcT 0 Silent C 23 EVX2 SNP 2 C A 176655383 176655383 WashU PGAP1 80055 genome.wustl.edu GRCh37 2 197757953 197757953 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354764.4:c.944A>G p.Lys315Arg p.K315R ENST00000354764 NM_024989.3 315 aAg/aGg 0 Missense_Mutation T 56 PGAP1 SNP 2 T C 197466198 197466198 WashU ANKRD44 91526 genome.wustl.edu GRCh37 2 197866488 197866488 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282272.8:c.2400G>A p.Leu800= p.L800= ENST00000282272 NM_001195144.1 800 ctG/ctA 0 Silent C 25 ANKRD44 SNP 2 C T 197574733 197574733 WashU STK11IP 114790 genome.wustl.edu GRCh37 2 220466798 220466798 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295641.10:c.464C>T p.Ala155Val p.A155V ENST00000295641 NM_052902.2 155 gCa/gTa 0 Missense_Mutation C 25 STK11IP SNP 2 T T 220175042 220175042 WashU LYST 1130 genome.wustl.edu GRCh37 1 235969927 235969927 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389794.3:c.2509C>T p.Pro837Ser p.P837S ENST00000389794 837 Cca/Tca 0 Missense_Mutation G 41 LYST SNP 1 G A 234036550 234036550 WashU RYR2 6262 genome.wustl.edu GRCh37 1 237936860 237936860 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366574.2:c.11687A>T p.Asp3896Val p.D3896V ENST00000366574 NM_001035.2 3896 gAt/gTt 0 Missense_Mutation A 12 RYR2 SNP 1 A T 236003483 236003483 WashU OR2T34 127068 genome.wustl.edu GRCh37 1 248737881 248737881 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328782.2:c.178C>A p.Leu60Ile p.L60I ENST00000328782 NM_001001821.1 60 Ctc/Atc 0 Missense_Mutation G 35 OR2T34 SNP 1 G T 246804504 246804504 WashU ROR1 4919 genome.wustl.edu GRCh37 1 64603116 64603116 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000371079.1:c.547G>A p.Gly183Ser p.G183S ENST00000371079 NM_005012.3 183 Ggc/Agc 0 Missense_Mutation G 47 ROR1 SNP 1 A G 64375704 64375704 WashU TSC2 7249 genome.wustl.edu GRCh37 16 2136353 2136353 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000219476.3:c.4822T>G p.Tyr1608Asp p.Y1608D ENST00000219476 NM_000548.3 1608 Tac/Gac 0 Missense_Mutation T 53 TSC2 SNP 16 G G 2076354 2076354 WashU XDH 7498 genome.wustl.edu GRCh37 2 31571183 31571183 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379416.3:c.3098C>G p.Thr1033Ser p.T1033S ENST00000379416 NM_000379.3 1033 aCc/aGc 0 Missense_Mutation G 44 XDH SNP 2 G C 31424687 31424687 WashU ABI3BP 25890 genome.wustl.edu GRCh37 3 100605041 100605041 + missense_variant Missense_Mutation SNP G G C Unknown TCGA-13-0903-01 TCGA-13-0903-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000284322.5:c.609C>G p.Asp203Glu p.D203E ENST00000284322 NM_015429.3 203 gaC/gaG 0 Missense_Mutation G 48 ABI3BP SNP 3 G C 102087731 102087731 WashU AZI1 22994 genome.wustl.edu GRCh37 17 79173563 79173563 + missense_variant Missense_Mutation SNP C C A Unknown TCGA-13-0903-01 TCGA-13-0903-10 C C C A C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000450824.2:c.979G>T p.Ala327Ser p.A327S ENST00000450824 327 Gcc/Tcc 0 Missense_Mutation C 26 AZI1 SNP 17 C A 76788158 76788158 WashU CSNK2A1 1457 genome.wustl.edu GRCh37 20 478408 478408 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000217244.3:c.383T>C p.Leu128Ser p.L128S ENST00000217244 NM_177559.2 128 tTa/tCa 0 Missense_Mutation A 13 CSNK2A1 SNP 20 A G 426408 426408 WashU SIRPB1 10326 genome.wustl.edu GRCh37 20 1551592 1551592 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381605.4:c.943C>T p.Leu315Phe p.L315F ENST00000381605 NM_006065.3 315 Ctc/Ttc 0 Missense_Mutation G 34 SIRPB1 SNP 20 G A 1499592 1499592 WashU KDELR2 11014 genome.wustl.edu GRCh37 7 6509280 6509280 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258739.4:c.298G>A p.Val100Ile p.V100I ENST00000258739 NM_006854.3 100 Gtc/Atc 0 Missense_Mutation C 18 KDELR2 SNP 7 C T 6475805 6475805 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577108 7577108 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.830G>T p.Cys277Phe p.C277F ENST00000269305 NM_001126112.2 277 tGt/tTt 0 Missense_Mutation C 17 TP53 SNP 17 C A 7517833 7517833 WashU MTRR 4552 genome.wustl.edu GRCh37 5 7885939 7885940 + stop_gained Nonsense_Mutation DNP GA GA AT novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 GA GA GA AT GA GA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264668.2:c.1110_1111delinsAT p.Lys371Ter p.K371* ENST00000264668 NM_024010.2 370 ttGAaa/ttATaa 0 Missense GA 45 MTRR DNP 5 GA AT 7938940 7938939 WashU PPARG 5468 genome.wustl.edu GRCh37 3 12458478 12458478 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287820.6:c.1095T>C p.Asp365= p.D365= ENST00000287820 NM_015869.4 365 gaT/gaC 0 Silent T 51 PPARG SNP 3 T C 12433478 12433478 WashU CLTCL1 8218 genome.wustl.edu GRCh37 22 19209499 19209499 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263200.10:c.2536G>T p.Val846Leu p.V846L ENST00000263200 NM_007098.3 846 Gtg/Ttg 0 Missense_Mutation C 18 CLTCL1 SNP 22 C A 17589499 17589499 WashU IGHV4OR15-8 642131 genome.wustl.edu GRCh37 15 22473162 22473162 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000557788.2:c.109C>A p.Leu37Met p.L37M ENST00000557788 37 Ctg/Atg 0 Missense_Mutation G 35 LOC642131 SNP 15 G T 19974526 19974526 WashU PUM2 23369 genome.wustl.edu GRCh37 2 20508295 20508295 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338086.5:c.569T>C p.Leu190Ser p.L190S ENST00000338086 NM_015317.1 190 tTg/tCg 0 Missense_Mutation A 5 PUM2 SNP 2 A G 20371776 20371776 WashU ZNF208 7757 genome.wustl.edu GRCh37 19 22157074 22157074 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397126.4:c.762G>T p.Glu254Asp p.E254D ENST00000397126 NM_007153.3 254 gaG/gaT 0 Missense_Mutation C 32 ZNF208 SNP 19 C A 21948914 21948914 WashU SMARCB1 6598 genome.wustl.edu GRCh37 22 24159112 24159112 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263121.7:c.784G>A p.Val262Ile p.V262I ENST00000263121 NM_003073.3 262 Gtc/Atc 0 Missense_Mutation G 40 SMARCB1 SNP 22 G A 22489112 22489112 WashU SNRPN 6638 genome.wustl.edu GRCh37 15 25223429 25223429 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400100.1:c.649C>G p.Pro217Ala p.P217A ENST00000400100 NM_022807.2 217 Cct/Gct 0 Missense_Mutation C 26 SNRPN SNP 15 C G 22774522 22774522 WashU PRDM9 56979 genome.wustl.edu GRCh37 5 23509610 23509610 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296682.3:c.101A>G p.Tyr34Cys p.Y34C ENST00000296682 NM_020227.2 34 tAc/tGc 0 Missense_Mutation A 14 PRDM9 SNP 5 A G 23545367 23545367 WashU MTMR6 9107 genome.wustl.edu GRCh37 13 25826045 25826045 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381801.5:c.1424C>T p.Ser475Phe p.S475F ENST00000381801 NM_004685.3 475 tCc/tTc 0 Missense_Mutation G 41 MTMR6 SNP 13 G A 24724045 24724045 WashU MTPAP 55149 genome.wustl.edu GRCh37 10 30629242 30629242 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263063.4:c.468G>A p.Gln156= p.Q156= ENST00000263063 NM_018109.3 156 caG/caA 0 Silent C 32 MTPAP SNP 10 C T 30669248 30669248 WashU ZNF536 9745 genome.wustl.edu GRCh37 19 31038887 31038887 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355537.3:c.2361C>T p.Ala787= p.A787= ENST00000355537 NM_014717.1 787 gcC/gcT 0 Silent C 23 ZNF536 SNP 19 C T 35730727 35730727 WashU C6orf89 221477 genome.wustl.edu GRCh37 6 36887353 36887353 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355190.3:c.847-1G>A p.X283_splice ENST00000355190 NM_152734.3 0 Splice_Site_SNP G 33 C6orf89 SNP 6 G A 36995331 36995331 WashU C12orf40 283461 genome.wustl.edu GRCh37 12 40078683 40078683 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324616.5:c.1301C>T p.Ser434Leu p.S434L ENST00000324616 NM_001031748.2 434 tCg/tTg 0 Missense_Mutation C 31 C12orf40 SNP 12 C T 38364950 38364950 WashU LRRC4C 57689 genome.wustl.edu GRCh37 11 40136105 40136105 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000278198.2:c.1738C>G p.Pro580Ala p.P580A ENST00000278198 580 Ccc/Gcc 0 Missense_Mutation G 44 LRRC4C SNP 11 G C 40092681 40092681 WashU NIM1K genome.wustl.edu GRCh37 5 43246058 43246058 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000512796.1:c.181G>T p.Val61Leu p.V61L ENST00000512796 61 Gtg/Ttg 0 Missense_Mutation G 44 MGC42105 SNP 5 G T 43281815 43281815 WashU PXDNL 137902 genome.wustl.edu GRCh37 8 52252290 52252290 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356297.4:c.4040G>C p.Gly1347Ala p.G1347A ENST00000356297 NM_144651.4 1347 gGt/gCt 0 Missense_Mutation C 18 PXDNL SNP 8 C G 52414843 52414843 WashU GRIN2D 2906 genome.wustl.edu GRCh37 19 48922616 48922616 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263269.3:c.1861C>T p.Arg621Cys p.R621C ENST00000263269 NM_000836.2 621 Cgc/Tgc 0 Missense_Mutation C 27 GRIN2D SNP 19 C T 53614428 53614428 WashU PCDH17 27253 genome.wustl.edu GRCh37 13 58208327 58208327 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377918.3:c.1647G>A p.Glu549= p.E549= ENST00000377918 NM_001040429.2 549 gaG/gaA 0 Silent G 36 PCDH17 SNP 13 G A 57106328 57106328 WashU CDH26 60437 genome.wustl.edu GRCh37 20 58567484 58567484 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000348616.4:c.1335C>T p.Ser445= p.S445= ENST00000348616 NM_177980.2 445 tcC/tcT 0 Silent C 23 CDH26 SNP 20 C T 58000879 58000879 WashU LAIR1 3903 genome.wustl.edu GRCh37 19 54871663 54871663 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000391742.2:c.381G>A p.Pro127= p.P127= ENST00000391742 127 ccG/ccA 0 Silent C 23 LAIR1 SNP 19 C T 59563475 59563475 WashU PCDH20 64881 genome.wustl.edu GRCh37 13 61985959 61985959 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409186.1:c.2273C>A p.Thr758Asn p.T758N ENST00000409186 758 aCt/aAt 0 Missense_Mutation G 36 PCDH20 SNP 13 G T 60883960 60883960 WashU SLC22A25 387601 genome.wustl.edu GRCh37 11 62997119 62997119 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306494.6:c.6C>T p.Ala2= p.A2= ENST00000306494 NM_199352.3 2 gcC/gcT 0 Silent G 35 SLC22A25 SNP 11 G A 62753695 62753695 WashU ASB12 142689 genome.wustl.edu GRCh37 X 63445178 63445178 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000362002.2:c.353A>G p.His118Arg p.H118R ENST00000362002 NM_130388.3 118 cAt/cGt 0 Missense_Mutation T 51 ASB12 SNP 23 T C 63361903 63361903 WashU NEGR1 257194 genome.wustl.edu GRCh37 1 72076726 72076726 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357731.5:c.771G>T p.Trp257Cys p.W257C ENST00000357731 NM_173808.2 257 tgG/tgT 0 Missense_Mutation C 18 NEGR1 SNP 1 C A 71849314 71849314 WashU CYP1A2 1544 genome.wustl.edu GRCh37 15 75047328 75047328 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343932.4:c.1450C>A p.Pro484Thr p.P484T ENST00000343932 NM_000761.3 484 Ccg/Acg 0 Missense_Mutation C 26 CYP1A2 SNP 15 C A 72834381 72834381 WashU OIT3 170392 genome.wustl.edu GRCh37 10 74692131 74692131 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334011.5:c.1487G>T p.Arg496Leu p.R496L ENST00000334011 NM_152635.1 496 cGg/cTg 0 Missense_Mutation G 39 OIT3 SNP 10 G T 74362137 74362137 WashU TLE4 7091 genome.wustl.edu GRCh37 9 82319728 82319728 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376552.2:c.640C>T p.Arg214Ter p.R214* ENST00000376552 NM_007005.3 214 Cga/Tga 0 Nonsense_Mutation C 23 TLE4 SNP 9 C T 81509548 81509548 WashU CYLC1 1538 genome.wustl.edu GRCh37 X 83128243 83128243 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329312.4:c.527A>T p.Lys176Ile p.K176I ENST00000329312 NM_021118.2 176 aAa/aTa 0 Missense_Mutation A 1 CYLC1 SNP 23 A T 83014899 83014899 WashU CCNH 902 genome.wustl.edu GRCh37 5 86690284 86690284 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256897.4:c.951C>G p.Asp317Glu p.D317E ENST00000256897 NM_001239.3 317 gaC/gaG 0 Missense_Mutation G 40 CCNH SNP 5 G C 86726040 86726040 WashU DICER1 23405 genome.wustl.edu GRCh37 14 95574680 95574680 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343455.3:c.2417C>T p.Thr806Met p.T806M ENST00000343455 NM_177438.2 806 aCg/aTg 0 Missense_Mutation G 40 DICER1 SNP 14 G A 94644433 94644433 WashU LPPR5 163404 genome.wustl.edu GRCh37 1 99380399 99380399 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263177.4:c.876G>A p.Met292Ile p.M292I ENST00000263177 NM_001037317.1 292 atG/atA 0 Missense_Mutation C 25 PAP2D SNP 1 C T 99152987 99152987 WashU TBC1D8 11138 genome.wustl.edu GRCh37 2 101656711 101656711 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376840.4:c.964G>A p.Ala322Thr p.A322T ENST00000376840 322 Gcc/Acc 0 Missense_Mutation C 27 TBC1D8 SNP 2 C T 101023143 101023143 WashU GPR45 11250 genome.wustl.edu GRCh37 2 105859168 105859168 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258456.1:c.853G>A p.Val285Ile p.V285I ENST00000258456 NM_007227.3 285 Gtc/Atc 0 Missense_Mutation G 40 GPR45 SNP 2 G A 105225600 105225600 WashU CBLB 868 genome.wustl.edu GRCh37 3 105397360 105397360 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264122.4:c.2484A>C p.Ala828= p.A828= ENST00000264122 NM_170662.3 828 gcA/gcC 0 Silent T 63 CBLB SNP 3 T G 106880050 106880050 WashU SLC25A24 29957 genome.wustl.edu GRCh37 1 108697655 108697655 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000565488.1:c.772G>A p.Val258Ile p.V258I ENST00000565488 NM_013386.4 258 Gtc/Atc 0 Missense_Mutation C 19 SLC25A24 SNP 1 C T 108499178 108499178 WashU RAD23B 5887 genome.wustl.edu GRCh37 9 110081063 110081063 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358015.3:c.584C>T p.Thr195Ile p.T195I ENST00000358015 NM_002874.4 195 aCt/aTt 0 Missense_Mutation C 20 RAD23B SNP 9 C T 109120884 109120884 WashU GPRC6A 222545 genome.wustl.edu GRCh37 6 117121828 117121828 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310357.3:c.1467T>A p.Thr489= p.T489= ENST00000310357 NM_148963.2 489 acT/acA 0 Silent A 15 GPRC6A SNP 6 A T 117228521 117228521 WashU SNX4 8723 genome.wustl.edu GRCh37 3 125195602 125195602 + splice_acceptor_variant Splice_Site SNP T T A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000251775.4:c.727-2A>T p.X243_splice ENST00000251775 NM_003794.3 0 Splice_Site_SNP T 55 SNX4 SNP 3 T A 126678292 126678292 WashU PHF20L1 51105 genome.wustl.edu GRCh37 8 133851828 133851828 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395386.2:c.2387+1G>A p.X796_splice ENST00000395386 NM_016018.4 0 Splice_Site_SNP G 36 PHF20L1 SNP 8 G A 133921010 133921010 WashU PRRG3 79057 genome.wustl.edu GRCh37 X 150869191 150869191 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370353.3:c.382A>T p.Thr128Ser p.T128S ENST00000370353 128 Acc/Tcc 0 Missense_Mutation A 6 PRRG3 SNP 23 A T 150619847 150619847 WashU NR4A2 4929 genome.wustl.edu GRCh37 2 157186267 157186267 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339562.4:c.432C>T p.Asp144= p.D144= ENST00000339562 NM_006186.3 144 gaC/gaT 0 Silent G 40 NR4A2 SNP 2 G A 156894513 156894513 WashU B3GALT1 8708 genome.wustl.edu GRCh37 2 168725675 168725675 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392690.3:c.126A>G p.Thr42= p.T42= ENST00000392690 42 acA/acG 0 Silent A 7 B3GALT1 SNP 2 A G 168433921 168433921 WashU DOCK2 1794 genome.wustl.edu GRCh37 5 169454914 169454914 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000256935.8:c.3429C>G p.Gly1143= p.G1143= ENST00000256935 NM_004946.2 1143 ggC/ggG 0 Silent C 26 DOCK2 SNP 5 C G 169387492 169387492 WashU USH2A 7399 genome.wustl.edu GRCh37 1 216040513 216040513 + splice_acceptor_variant Splice_Site SNP C C A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307340.3:c.8682-1G>T p.X2894_splice ENST00000307340 NM_206933.2 0 Splice_Site_SNP C 24 USH2A SNP 1 C A 214107136 214107136 WashU LYST 1130 genome.wustl.edu GRCh37 1 235897870 235897870 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389794.3:c.8448G>A p.Leu2816= p.L2816= ENST00000389794 2816 ctG/ctA 0 Silent C 25 LYST SNP 1 C T 233964493 233964493 WashU CERKL 375298 genome.wustl.edu GRCh37 2 182521671 182521671 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339098.5:c.63G>A p.Ala21= p.A21= ENST00000339098 21 gcG/gcA 0 Silent C 27 CERKL SNP 2 C T 182229916 182229916 WashU ACAA1 30 genome.wustl.edu GRCh37 3 38175457 38175457 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333167.8:c.309C>T p.Ile103= p.I103= ENST00000333167 NM_001607.3 103 atC/atT 0 Silent G 37 ACAA1 SNP 3 G A 38150461 38150461 WashU MYH13 8735 genome.wustl.edu GRCh37 17 10212731 10212731 + synonymous_variant Silent SNP G G A Unknown TCGA-13-1411-01 TCGA-13-1411-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000418404.3:c.4989C>T p.Asp1663= p.D1663= ENST00000418404 1663 gaC/gaT 0 Silent G 40 MYH13 SNP 17 G A 10153456 10153456 WashU CSMD1 64478 genome.wustl.edu GRCh37 8 3267072 3267072 + synonymous_variant Silent SNP C C G novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000537824.1:c.1617G>C p.Thr539= p.T539= ENST00000537824 NM_033225.5 539 acG/acC 0 Silent C 23 CSMD1 SNP 8 C G 3254480 3254480 WashU RREB1 6239 genome.wustl.edu GRCh37 6 7248752 7248752 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379938.2:c.4780C>G p.Pro1594Ala p.P1594A ENST00000379938 NM_001003700.1 1594 Cca/Gca 0 Missense_Mutation C 26 RREB1 SNP 6 C G 7193751 7193751 WashU DNAH2 146754 genome.wustl.edu GRCh37 17 7695633 7695633 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000572933.1:c.7117C>G p.Leu2373Val p.L2373V ENST00000572933 2373 Ctc/Gtc 0 Missense_Mutation C 28 DNAH2 SNP 17 C G 7636358 7636358 WashU MYH1 4619 genome.wustl.edu GRCh37 17 10400653 10400653 + synonymous_variant Silent SNP T T C novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000226207.5:c.4482A>G p.Glu1494= p.E1494= ENST00000226207 NM_005963.3 1494 gaA/gaG 0 Silent T 52 MYH1 SNP 17 T C 10341378 10341378 WashU SNX29 92017 genome.wustl.edu GRCh37 16 12136876 12136876 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000566228.1:c.370A>G p.Asn124Asp p.N124D ENST00000566228 NM_032167.3 124 Aac/Gac 0 Missense_Mutation A 5 RUNDC2A SNP 16 A G 12044377 12044377 WashU ZNF44 51710 genome.wustl.edu GRCh37 19 12358175 12358175 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000426973.1:c.1540C>G p.Pro514Ala p.P514A ENST00000426973 514 Cct/Gct 0 Missense_Mutation G 44 ENSG00000218758 SNP 19 G C 12219175 12219175 WashU ITGA8 8516 genome.wustl.edu GRCh37 10 15726087 15726087 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378076.3:c.484A>G p.Thr162Ala p.T162A ENST00000378076 NM_003638.1 162 Aca/Gca 0 Missense_Mutation T 58 ITGA8 SNP 10 T C 15766093 15766093 WashU RRBP1 6238 genome.wustl.edu GRCh37 20 17602521 17602521 + synonymous_variant Silent SNP T T C novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377807.2:c.1920A>G p.Glu640= p.E640= ENST00000377807 NM_001042576.1 640 gaA/gaG 0 Silent T 60 RRBP1 SNP 20 T C 17550521 17550521 WashU RRBP1 6238 genome.wustl.edu GRCh37 20 17639676 17639676 + intron_variant Intron SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377807.2:c.529-342G>A *177* ENST00000377807 NM_001042576.1 0 Missense_Mutation C 31 RRBP1 SNP 20 C T 17587676 17587676 WashU IGSF21 84966 genome.wustl.edu GRCh37 1 18704791 18704791 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000251296.1:c.1375G>A p.Ala459Thr p.A459T ENST00000251296 NM_032880.4 459 Gcc/Acc 0 Missense_Mutation G 38 IGSF21 SNP 1 G A 18577378 18577378 WashU SLC24A2 25769 genome.wustl.edu GRCh37 9 19528072 19528072 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341998.2:c.1544A>C p.Tyr515Ser p.Y515S ENST00000341998 NM_001193288.2 515 tAc/tCc 0 Missense_Mutation T 57 SLC24A2 SNP 9 T G 19518072 19518072 WashU USP31 57478 genome.wustl.edu GRCh37 16 23080132 23080132 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000219689.7:c.3294G>A p.Glu1098= p.E1098= ENST00000219689 NM_020718.3 1098 gaG/gaA 0 Silent C 20 USP31 SNP 16 C T 22987633 22987633 WashU ZNF724P 440519 genome.wustl.edu GRCh37 19 23405530 23405530 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000418100.1:c.1517A>G p.Tyr506Cys p.Y506C ENST00000418100 506 tAc/tGc 0 Missense_Mutation T 57 ZNF724P SNP 19 T C 23197370 23197370 WashU LOXL2 4017 genome.wustl.edu GRCh37 8 23217671 23217671 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389131.3:c.463G>A p.Gly155Ser p.G155S ENST00000389131 NM_002318.2 155 Ggt/Agt 0 Missense_Mutation C 23 LOXL2 SNP 8 C T 23273616 23273616 WashU SEZ6L 23544 genome.wustl.edu GRCh37 22 26736599 26736599 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000248933.6:c.2212+1G>A p.X738_splice ENST00000248933 0 Splice_Site_SNP G 44 SEZ6L SNP 22 G A 25066599 25066599 WashU EOMES 8320 genome.wustl.edu GRCh37 3 27760901 27760901 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295743.4:c.1108G>A p.Gly370Arg p.G370R ENST00000295743 NM_005442.3 370 Ggg/Agg 0 Missense_Mutation C 23 EOMES SNP 3 C T 27735905 27735905 WashU TUBB 203068 genome.wustl.edu GRCh37 6 30691259 30691259 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000327892.8:c.420C>T p.Gly140= p.G140= ENST00000327892 NM_178014.2 140 ggC/ggT 0 Silent C 27 TUBB SNP 6 C T 30799238 30799238 WashU ZBTB22 9278 genome.wustl.edu GRCh37 6 33284546 33284546 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000431845.2:c.148C>T p.Gln50Ter p.Q50* ENST00000431845 NM_005453.4 50 Cag/Tag 0 Nonsense_Mutation G 46 ZBTB22 SNP 6 G A 33392524 33392524 WashU CELF4 56853 genome.wustl.edu GRCh37 18 35145519 35145519 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000420428.2:c.86G>C p.Ser29Thr p.S29T ENST00000420428 NM_020180.3 29 aGt/aCt 0 Missense_Mutation C 20 CELF4 SNP 18 C G 33399517 33399517 WashU RP11-812E19.9 genome.wustl.edu GRCh37 16 33647488 33647488 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000558425.1:c.112A>G p.Arg38Gly p.R38G ENST00000558425 38 Aga/Gga 0 Missense_Mutation T 54 ENSG00000205454 SNP 16 T C 33554989 33554989 WashU NADK2 133686 genome.wustl.edu GRCh37 5 36217947 36217947 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381937.4:c.684G>A p.Gly228= p.G228= ENST00000381937 NM_001085411.1 228 ggG/ggA 0 Silent C 30 C5orf33 SNP 5 C T 36253704 36253704 WashU PDXP 57026 genome.wustl.edu GRCh37 22 38061650 38061650 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000215904.6:c.663C>T p.Cys221= p.C221= ENST00000215904 NM_020315.4 221 tgC/tgT 0 Silent C 25 PDXP SNP 22 C T 36391596 36391596 WashU ARID2 196528 genome.wustl.edu GRCh37 12 46244131 46244131 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334344.6:c.2225C>T p.Ser742Phe p.S742F ENST00000334344 NM_152641.2 742 tCt/tTt 0 Missense_Mutation C 32 ARID2 SNP 12 C T 44530398 44530398 WashU SUPT5H 6829 genome.wustl.edu GRCh37 19 39959442 39959442 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000599117.1:c.1084G>C p.Glu362Gln p.E362Q ENST00000599117 362 Gag/Cag 0 Missense_Mutation G 45 SUPT5H SNP 19 G C 44651282 44651282 WashU SOCS5 9655 genome.wustl.edu GRCh37 2 46986955 46986955 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306503.5:c.1286G>A p.Arg429Gln p.R429Q ENST00000306503 NM_014011.4 429 cGa/cAa 0 Missense_Mutation G 37 SOCS5 SNP 2 G A 46840459 46840459 WashU DMXL2 23312 genome.wustl.edu GRCh37 15 51827951 51827951 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000543779.2:c.2345T>C p.Phe782Ser p.F782S ENST00000543779 782 tTt/tCt 0 Missense_Mutation A 1 DMXL2 SNP 15 A G 49615243 49615243 WashU DOCK3 1795 genome.wustl.edu GRCh37 3 51370627 51370627 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000266037.9:c.3554C>A p.Thr1185Asn p.T1185N ENST00000266037 NM_004947.4 1185 aCc/aAc 0 Missense_Mutation C 18 DOCK3 SNP 3 C A 51345667 51345667 WashU RAB3C 115827 genome.wustl.edu GRCh37 5 58021919 58021919 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282878.4:c.343G>A p.Glu115Lys p.E115K ENST00000282878 NM_138453.2 115 Gaa/Aaa 0 Missense_Mutation G 45 RAB3C SNP 5 G A 58057676 58057676 WashU IL12RB2 3595 genome.wustl.edu GRCh37 1 67795362 67795362 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262345.1:c.757C>A p.Leu253Met p.L253M ENST00000262345 NM_001559.2 253 Ctg/Atg 0 Missense_Mutation C 20 IL12RB2 SNP 1 C A 67567950 67567950 WashU TAF1 6872 genome.wustl.edu GRCh37 X 70602947 70602947 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276072.3:c.1940G>A p.Gly647Asp p.G647D ENST00000276072 647 gGt/gAt 0 Missense_Mutation G 44 TAF1 SNP 23 G A 70519672 70519672 WashU INPPL1 3636 genome.wustl.edu GRCh37 11 71941250 71941250 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298229.2:c.1025G>A p.Arg342Gln p.R342Q ENST00000298229 NM_001567.3 342 cGg/cAg 0 Missense_Mutation G 39 INPPL1 SNP 11 G A 71618898 71618898 WashU TYW3 127253 genome.wustl.edu GRCh37 1 75202277 75202277 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370867.3:c.226A>G p.Thr76Ala p.T76A ENST00000370867 NM_138467.2 76 Aca/Gca 0 Missense_Mutation A 14 TYW3 SNP 1 A G 74974865 74974865 WashU AC004980.11 genome.wustl.edu GRCh37 7 76167995 76167995 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 A A A G A G Unknown Valid Germline 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338590.7:n.407T>C *136* ENST00000338590 0 Missense_Mutation A 6 ENSG00000185040 SNP 7 A G 76005931 76005931 WashU INTS4 92105 genome.wustl.edu GRCh37 11 77672104 77672104 + synonymous_variant Silent SNP G G C novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000534064.1:c.552C>G p.Val184= p.V184= ENST00000534064 NM_033547.3 184 gtC/gtG 0 Silent G 45 INTS4 SNP 11 G C 77349752 77349752 WashU ADAMTSL3 57188 genome.wustl.edu GRCh37 15 84651252 84651252 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286744.5:c.2872C>T p.Arg958Trp p.R958W ENST00000286744 NM_207517.2 958 Cgg/Tgg 0 Missense_Mutation C 19 ADAMTSL3 SNP 15 C T 82442256 82442256 WashU DPYD 1806 genome.wustl.edu GRCh37 1 98015254 98015254 + synonymous_variant Silent SNP T T G novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370192.3:c.1386A>C p.Pro462= p.P462= ENST00000370192 NM_000110.3 462 ccA/ccC 0 Silent T 55 DPYD SNP 1 T G 97787842 97787842 WashU CCDC180 100499483 genome.wustl.edu GRCh37 9 100085204 100085204 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375202.2:c.1380+1G>C p.X460_splice ENST00000375202 0 Splice_Site_SNP G 44 KIAA1529 SNP 9 G C 99125025 99125025 WashU GRIA4 2893 genome.wustl.edu GRCh37 11 105776020 105776020 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282499.5:c.1151C>A p.Pro384His p.P384H ENST00000282499 NM_000829.3 384 cCt/cAt 0 Missense_Mutation C 24 GRIA4 SNP 11 C A 105281230 105281230 WashU PREP 5550 genome.wustl.edu GRCh37 6 105736641 105736641 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369110.3:c.1446C>T p.Pro482= p.P482= ENST00000369110 NM_002726.4 482 ccC/ccT 0 Silent G 47 PREP SNP 6 G A 105843334 105843334 WashU IL13RA2 3598 genome.wustl.edu GRCh37 X 114245331 114245331 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371936.1:c.582T>C p.Asn194= p.N194= ENST00000371936 194 aaT/aaC 0 Silent A 16 IL13RA2 SNP 23 A G 114151587 114151587 WashU KIAA1210 57481 genome.wustl.edu GRCh37 X 118223499 118223499 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000402510.2:c.1694G>A p.Gly565Asp p.G565D ENST00000402510 NM_020721.1 565 gGc/gAc 0 Missense_Mutation C 26 KIAA1210 SNP 23 C T 118107527 118107527 WashU CIT 11113 genome.wustl.edu GRCh37 12 120208662 120208662 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392521.2:c.2135G>A p.Arg712His p.R712H ENST00000392521 NM_001206999.1 712 cGt/cAt 0 Missense_Mutation C 19 CIT SNP 12 C T 118693045 118693045 WashU CLIP1 6249 genome.wustl.edu GRCh37 12 122821266 122821266 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000540338.1:c.2481G>T p.Gly827= p.G827= ENST00000540338 827 ggG/ggT 0 Silent C 30 CLIP1 SNP 12 C A 121387219 121387219 WashU OR8G5 219865 genome.wustl.edu GRCh37 11 124135295 124135295 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000524943.2:c.573G>A p.Ala191= p.A191= ENST00000524943 NM_001005198.1 191 gcG/gcA 0 Silent G 40 OR8G5 SNP 11 G A 123640505 123640505 WashU TMEM108 66000 genome.wustl.edu GRCh37 3 133099417 133099417 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321871.6:c.862G>A p.Gly288Ser p.G288S ENST00000321871 NM_001136469.1 288 Ggt/Agt 0 Missense_Mutation G 47 TMEM108 SNP 3 G A 134582107 134582107 WashU PCDHGA5 56110 genome.wustl.edu GRCh37 5 140746310 140746310 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000518069.1:c.2413C>T p.Arg805Ter p.R805* ENST00000518069 NM_018918.2 805 Cga/Tga 0 Nonsense_Mutation C 27 PCDHGA5 SNP 5 C T 140726494 140726494 WashU LRP1B 53353 genome.wustl.edu GRCh37 2 141259297 141259297 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389484.3:c.8809G>A p.Gly2937Arg p.G2937R ENST00000389484 NM_018557.2 2937 Gga/Aga 0 Missense_Mutation C 21 LRP1B SNP 2 C T 140975767 140975767 WashU TIGD4 201798 genome.wustl.edu GRCh37 4 153691680 153691680 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304337.2:c.477G>A p.Ser159= p.S159= ENST00000304337 NM_145720.3 159 tcG/tcA 0 Silent C 31 TIGD4 SNP 4 C T 153911130 153911130 WashU TBR1 10716 genome.wustl.edu GRCh37 2 162273383 162273383 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389554.3:c.462C>T p.Asn154= p.N154= ENST00000389554 NM_006593.2 154 aaC/aaT 0 Silent C 19 TBR1 SNP 2 C T 161981629 161981629 WashU SCN3A 6328 genome.wustl.edu GRCh37 2 165994624 165994624 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000283254.7:c.2156T>A p.Leu719His p.L719H ENST00000283254 NM_001081676.1 719 cTt/cAt 0 Missense_Mutation A 3 SCN3A SNP 2 A T 165702870 165702870 WashU LRP2 4036 genome.wustl.edu GRCh37 2 170044680 170044680 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263816.3:c.9128G>A p.Arg3043His p.R3043H ENST00000263816 NM_004525.2 3043 cGc/cAc 0 Missense_Mutation C 27 LRP2 SNP 2 C T 169752926 169752926 WashU DUSP1 1843 genome.wustl.edu GRCh37 5 172196695 172196695 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000239223.3:c.616G>A p.Val206Ile p.V206I ENST00000239223 NM_004417.3 206 Gtc/Atc 0 Missense_Mutation C 19 DUSP1 SNP 5 C T 172129301 172129301 WashU BOD1 91272 genome.wustl.edu GRCh37 5 173040254 173040254 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311086.4:c.242C>T p.Ala81Val p.A81V ENST00000311086 NM_138369.2 81 gCt/gTt 0 Missense_Mutation G 34 BOD1 SNP 5 G A 172972860 172972860 WashU TTN 7273 genome.wustl.edu GRCh37 2 179633640 179633640 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.8923C>G p.Leu2975Val p.L2975V ENST00000589042 NM_001267550.1 2975 Ctg/Gtg 0 Missense_Mutation G 34 TTN SNP 2 G C 179341885 179341885 WashU CDK15 65061 genome.wustl.edu GRCh37 2 202700416 202700416 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000450471.2:c.781G>A p.Val261Met p.V261M ENST00000450471 NM_001261435.1 261 Gtg/Atg 0 Missense_Mutation G 40 CDK15 SNP 2 G A 202408661 202408661 WashU NGEF 25791 genome.wustl.edu GRCh37 2 233759599 233759599 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264051.3:c.856G>T p.Ala286Ser p.A286S ENST00000264051 NM_019850.2 286 Gcg/Tcg 0 Missense_Mutation C 26 NGEF SNP 2 C A 233467843 233467843 WashU OR2T6 254879 genome.wustl.edu GRCh37 1 248551073 248551073 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355728.2:c.164T>C p.Leu55Pro p.L55P ENST00000355728 NM_001005471.1 55 cTc/cCc 0 Missense_Mutation T 54 OR2T6 SNP 1 T C 246617696 246617696 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578220 7578224 + frameshift_variant Frame_Shift_Del DEL TTTCT TTTCT - novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 TTTCT TTTCT TTTCT - TTTCT TTTCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.625_629del p.Arg209HisfsTer5 p.R209Hfs*5 ENST00000269305 NM_001126112.2 209 AGAAAc/c 0 Frame_Shift_Del TTTCT 60 TP53 DEL 17 TTTCT - 7518949 7518945 WashU OLFM3 118427 genome.wustl.edu GRCh37 1 102290780 102290780 + missense_variant Missense_Mutation SNP C C G Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C G C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000370103.4:c.394G>C p.Glu132Gln p.E132Q ENST00000370103 NM_058170.2 132 Gag/Cag 0 Missense_Mutation C 31 OLFM3 SNP 1 C G 102063368 102063368 WashU PRR5L 79899 genome.wustl.edu GRCh37 11 36440825 36440825 + missense_variant Missense_Mutation SNP T T A Unknown TCGA-04-1343-01 TCGA-04-1343-10 T T T A T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000378867.3:c.266T>A p.Leu89His p.L89H ENST00000378867 NM_024841.4 89 cTt/cAt 0 Missense_Mutation T 56 PRR5L SNP 11 T A 36397401 36397401 WashU SYT9 143425 genome.wustl.edu GRCh37 11 7439231 7439231 + synonymous_variant Silent SNP G G T Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000318881.6:c.1209G>T p.Leu403= p.L403= ENST00000318881 NM_175733.3 403 ctG/ctT 0 Silent G 45 SYT9 SNP 11 G T 7395807 7395807 WashU PCF11 51585 genome.wustl.edu GRCh37 11 82868481 82868481 + 5_prime_UTR_variant 5'UTR SNP A A C novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298281.4:c.-1A>C *1* ENST00000298281 NM_015885.3 0 Silent A 5 PCF11 SNP 11 A C 82546129 82546129 WashU SOGA2 23255 genome.wustl.edu GRCh37 18 8826019 8826019 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359865.3:c.4511G>T p.Cys1504Phe p.C1504F ENST00000359865 NM_015210.3 1504 tGc/tTc 0 Missense_Mutation G 46 KIAA0802 SNP 18 G T 8816019 8816019 WashU SOGA2 23255 genome.wustl.edu GRCh37 18 8826031 8826031 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359865.3:c.4523G>T p.Gly1508Val p.G1508V ENST00000359865 NM_015210.3 1508 gGg/gTg 0 Missense_Mutation G 43 KIAA0802 SNP 18 G T 8816031 8816031 WashU NR4A2 4929 genome.wustl.edu GRCh37 2 157185866 157185866 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339562.4:c.833G>A p.Arg278His p.R278H ENST00000339562 NM_006186.3 278 cGc/cAc 0 Missense_Mutation C 27 NR4A2 SNP 2 C T 156894112 156894112 WashU ZBTB20 26137 genome.wustl.edu GRCh37 3 114069418 114069418 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000474710.1:c.1507G>T p.Ala503Ser p.A503S ENST00000474710 NM_001164342.1 503 Gct/Tct 0 Missense_Mutation C 28 ZBTB20 SNP 3 C A 115552108 115552108 WashU CCDC61 729440 genome.wustl.edu GRCh37 19 46509877 46509877 + missense_variant Missense_Mutation SNP C C A Unknown TCGA-04-1343-01 TCGA-04-1343-10 C C C A C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000595358.1:c.292C>A p.Arg98Ser p.R98S ENST00000595358 NM_001267723.1 98 Cgc/Agc 0 Missense_Mutation C 23 CCDC61 SNP 19 C A 51201717 51201717 WashU CTBP1 1487 genome.wustl.edu GRCh37 4 1207364 1207364 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000290921.6:c.923C>A p.Pro308His p.P308H ENST00000290921 NM_001328.2 308 cCc/cAc 0 Missense_Mutation G 43 CTBP1 SNP 4 G T 1197364 1197364 WashU ADI1 55256 genome.wustl.edu GRCh37 2 3502844 3502844 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327435.6:c.430A>G p.Lys144Glu p.K144E ENST00000327435 NM_018269.3 144 Aag/Gag 0 Missense_Mutation T 62 ADI1 SNP 2 T C 3481851 3481851 WashU USP6 9098 genome.wustl.edu GRCh37 17 5035594 5035594 + intron_variant Intron SNP A A T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000574788.1:c.156-97A>T *52* ENST00000574788 0 Missense_Mutation A 12 USP6 SNP 17 A T 4976318 4976318 WashU PITPNM3 83394 genome.wustl.edu GRCh37 17 6371565 6371565 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262483.8:c.1870C>T p.Arg624Trp p.R624W ENST00000262483 NM_031220.3 624 Cgg/Tgg 0 Missense_Mutation G 38 PITPNM3 SNP 17 G A 6312289 6312289 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578212 7578212 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.637C>T p.Arg213Ter p.R213* ENST00000269305 NM_001126112.2 213 Cga/Tga 0 Nonsense_Mutation G 37 TP53 SNP 17 G A 7518937 7518937 WashU STK33 65975 genome.wustl.edu GRCh37 11 8486290 8486290 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000447869.1:c.419C>T p.Thr140Met p.T140M ENST00000447869 140 aCg/aTg 0 Missense_Mutation G 40 STK33 SNP 11 G A 8442866 8442866 WashU RGL3 57139 genome.wustl.edu GRCh37 19 11526798 11526798 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393423.3:c.452G>A p.Trp151Ter p.W151* ENST00000393423 151 tGg/tAg 0 Nonsense_Mutation C 21 RGL3 SNP 19 C T 11387798 11387798 WashU CTNND2 1501 genome.wustl.edu GRCh37 5 11397167 11397167 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304623.8:c.588A>G p.Arg196= p.R196= ENST00000304623 NM_001332.2 196 cgA/cgG 0 Silent T 54 CTNND2 SNP 5 T C 11450167 11450167 WashU EMR2 30817 genome.wustl.edu GRCh37 19 14862306 14862306 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315576.3:c.1966G>T p.Ala656Ser p.A656S ENST00000315576 NM_013447.3 656 Gct/Tct 0 Missense_Mutation C 28 EMR2 SNP 19 C A 14723306 14723306 WashU RIOK3 8780 genome.wustl.edu GRCh37 18 21059302 21059302 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339486.3:c.1366A>C p.Lys456Gln p.K456Q ENST00000339486 NM_003831.3 456 Aag/Cag 0 Missense_Mutation A 5 RIOK3 SNP 18 A C 19313300 19313300 WashU RNASE11 122651 genome.wustl.edu GRCh37 14 21052117 21052117 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000610205.1:c.517A>T p.Ser173Cys p.S173C ENST00000610205 NM_145250.3 173 Agt/Tgt 0 Missense_Mutation T 53 RNASE11 SNP 14 T A 20121957 20121957 WashU RALGAPA2 57186 genome.wustl.edu GRCh37 20 20585856 20585856 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000202677.7:c.2001A>T p.Lys667Asn p.K667N ENST00000202677 NM_020343.3 667 aaA/aaT 0 Missense_Mutation T 52 RALGAPA2 SNP 20 T A 20533856 20533856 WashU ZNF521 25925 genome.wustl.edu GRCh37 18 22806157 22806157 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361524.3:c.1725T>A p.Leu575= p.L575= ENST00000361524 NM_015461.2 575 ctT/ctA 0 Silent A 13 ZNF521 SNP 18 A T 21060155 21060155 WashU IGLV2-11 genome.wustl.edu GRCh37 22 23135262 23135262 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A T T A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390314.2:c.124A>T p.Thr42Ser p.T42S ENST00000390314 42 Act/Tct 0 Missense_Mutation A 6 IGL@ SNP 22 T T 21465262 21465262 WashU PABPN1 8106 genome.wustl.edu GRCh37 14 23793464 23793464 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216727.4:c.847G>A p.Gly283Ser p.G283S ENST00000216727 NM_004643.3 283 Ggt/Agt 0 Missense_Mutation G 47 PABPN1 SNP 14 G A 22863304 22863304 WashU STK31 56164 genome.wustl.edu GRCh37 7 23810666 23810666 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355870.3:c.1756A>G p.Ser586Gly p.S586G ENST00000355870 NM_031414.4 586 Agt/Ggt 0 Missense_Mutation A 15 STK31 SNP 7 A G 23777191 23777191 WashU MAGEB5 347541 genome.wustl.edu GRCh37 X 26236041 26236041 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000602297.1:c.623C>A p.Ala208Asp p.A208D ENST00000602297 NM_001271752.1 208 gCc/gAc 0 Missense_Mutation C 26 MAGEB5 SNP 23 C A 26145962 26145962 WashU CDH6 1004 genome.wustl.edu GRCh37 5 31267705 31267705 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265071.2:c.125G>C p.Gly42Ala p.G42A ENST00000265071 NM_004932.3 42 gGa/gCa 0 Missense_Mutation G 41 CDH6 SNP 5 G C 31303462 31303462 WashU EHMT2 10919 genome.wustl.edu GRCh37 6 31864266 31864266 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375537.4:c.356C>T p.Ser119Phe p.S119F ENST00000375537 NM_006709.3 119 tCc/tTc 0 Missense_Mutation G 41 EHMT2 SNP 6 A A 31972245 31972245 WashU ETV7 51513 genome.wustl.edu GRCh37 6 36343687 36343687 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340181.4:c.268C>A p.Leu90Ile p.L90I ENST00000340181 NM_001207040.1 90 Ctc/Atc 0 Missense_Mutation G 35 ETV7 SNP 6 T T 36451665 36451665 WashU KIF21A 55605 genome.wustl.edu GRCh37 12 39726178 39726178 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361418.5:c.2889A>G p.Lys963= p.K963= ENST00000361418 963 aaA/aaG 0 Silent T 60 KIF21A SNP 12 T C 38012445 38012445 WashU EGFLAM 133584 genome.wustl.edu GRCh37 5 38438523 38438523 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354891.3:c.2430C>T p.Cys810= p.C810= ENST00000354891 NM_001205301.1 810 tgC/tgT 0 Silent C 26 EGFLAM SNP 5 C T 38474280 38474280 WashU SGSM3 27352 genome.wustl.edu GRCh37 22 40805279 40805279 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000248929.9:c.2014G>C p.Glu672Gln p.E672Q ENST00000248929 NM_015705.4 672 Gag/Cag 0 Missense_Mutation G 41 SGSM3 SNP 22 C C 39135225 39135225 WashU PTCRA 171558 genome.wustl.edu GRCh37 6 42890866 42890866 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304672.1:c.160C>A p.Pro54Thr p.P54T ENST00000304672 NM_001243168.1 54 Ccc/Acc 0 Missense_Mutation C 18 PTCRA SNP 6 C A 42998844 42998844 WashU MYLK3 91807 genome.wustl.edu GRCh37 16 46746655 46746655 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394809.4:c.2019C>T p.Phe673= p.F673= ENST00000394809 NM_182493.2 673 ttC/ttT 0 Silent G 37 MYLK3 SNP 16 G A 45304156 45304156 WashU ZMYND8 23613 genome.wustl.edu GRCh37 20 45891162 45891162 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000461685.1:c.1491C>T p.Ala497= p.A497= ENST00000461685 497 gcC/gcT 0 Silent G 35 ZMYND8 SNP 20 G A 45324569 45324569 WashU PRKCE 5581 genome.wustl.edu GRCh37 2 46206132 46206132 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306156.3:c.590A>C p.Gln197Pro p.Q197P ENST00000306156 NM_005400.2 197 cAg/cCg 0 Missense_Mutation A 7 PRKCE SNP 2 A C 46059636 46059636 WashU FAM35DP genome.wustl.edu GRCh37 10 47416883 47416883 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000323387.5:n.2419G>C *807* ENST00000323387 0 Missense_Mutation G 45 FAM35B2 SNP 10 G C 46836889 46836889 WashU C7orf57 136288 genome.wustl.edu GRCh37 7 48080991 48080991 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000348904.3:c.116C>T p.Ser39Phe p.S39F ENST00000348904 NM_001100159.2 39 tCc/tTc 0 Missense_Mutation C 30 C7orf57 SNP 7 C T 48047516 48047516 WashU OR4C2P 79351 genome.wustl.edu GRCh37 11 48442289 48442289 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000530855.1:n.528C>T *176* ENST00000530855 0 Missense_Mutation C 22 OR4C2P SNP 11 C T 48398865 48398865 WashU IRGC 56269 genome.wustl.edu GRCh37 19 44223100 44223100 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244314.5:c.390C>A p.Asp130Glu p.D130E ENST00000244314 NM_019612.3 130 gaC/gaA 0 Missense_Mutation C 20 IRGC SNP 19 C A 48914940 48914940 WashU BIN2 51411 genome.wustl.edu GRCh37 12 51696508 51696508 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000267012.4:c.274G>A p.Glu92Lys p.E92K ENST00000267012 NM_016293.2 92 Gag/Aag 0 Missense_Mutation C 31 BIN2 SNP 12 C T 49982775 49982775 WashU HUWE1 10075 genome.wustl.edu GRCh37 X 53578151 53578151 + splice_acceptor_variant Splice_Site SNP C C A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342160.3:c.9097-1G>T p.X3033_splice ENST00000342160 0 Splice_Site_SNP C 24 HUWE1 SNP 23 C A 53594876 53594876 WashU DGKA 1606 genome.wustl.edu GRCh37 12 56347170 56347170 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331886.5:c.2100A>T p.Glu700Asp p.E700D ENST00000331886 NM_001345.4 700 gaA/gaT 0 Missense_Mutation A 2 DGKA SNP 12 A T 54633437 54633437 WashU EFEMP1 2202 genome.wustl.edu GRCh37 2 56145354 56145354 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394555.2:c.130G>T p.Asp44Tyr p.D44Y ENST00000394555 NM_001039348.2 44 Gat/Tat 0 Missense_Mutation C 24 EFEMP1 SNP 2 C A 55998858 55998858 WashU POLR2B 5431 genome.wustl.edu GRCh37 4 57883852 57883852 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381227.1:c.2281A>T p.Thr761Ser p.T761S ENST00000381227 761 Aca/Tca 0 Missense_Mutation A 14 POLR2B SNP 4 A T 57578609 57578609 WashU TM2D1 83941 genome.wustl.edu GRCh37 1 62190763 62190763 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A C C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371180.2:c.216T>G p.Ser72= p.S72= ENST00000371180 NM_032027.2 72 tcT/tcG 0 Silent A 7 TM2D1 SNP 1 C C 61963351 61963351 WashU DOCK7 85440 genome.wustl.edu GRCh37 1 63119432 63119432 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340370.5:c.353G>C p.Arg118Thr p.R118T ENST00000340370 NM_033407.3 118 aGa/aCa 0 Missense_Mutation C 32 DOCK7 SNP 1 C G 62892020 62892020 WashU SYNE2 23224 genome.wustl.edu GRCh37 14 64680986 64680986 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358025.3:c.19131T>G p.Ser6377= p.S6377= ENST00000358025 NM_182914.2 6377 tcT/tcG 0 Silent T 56 SYNE2 SNP 14 T G 63750739 63750739 WashU CD180 4064 genome.wustl.edu GRCh37 5 66480368 66480368 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256447.4:c.303T>C p.His101= p.H101= ENST00000256447 NM_005582.2 101 caT/caC 0 Silent A 12 CD180 SNP 5 A G 66516124 66516124 WashU SDK2 54549 genome.wustl.edu GRCh37 17 71410827 71410827 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392650.3:c.2440G>A p.Ala814Thr p.A814T ENST00000392650 NM_001144952.1 814 Gcc/Acc 0 Missense_Mutation C 27 SDK2 SNP 17 T T 68922422 68922422 WashU UGT2B17 7367 genome.wustl.edu GRCh37 4 69433615 69433615 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000317746.2:c.588T>C p.Pro196= p.P196= ENST00000317746 NM_001077.3 196 ccT/ccC 0 Silent A 7 UGT2B17 SNP 4 A G 69116210 69116210 WashU THAP2 83591 genome.wustl.edu GRCh37 12 72058300 72058300 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308086.2:c.11A>G p.Asn4Ser p.N4S ENST00000308086 NM_031435.3 4 aAt/aGt 0 Missense_Mutation A 4 THAP2 SNP 12 A G 70344567 70344567 WashU KAT6B 23522 genome.wustl.edu GRCh37 10 76788700 76788700 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287239.4:c.4118A>G p.Glu1373Gly p.E1373G ENST00000287239 NM_001256468.1 1373 gAa/gGa 0 Missense_Mutation A 9 MYST4 SNP 10 A G 76458706 76458706 WashU CMYA5 202333 genome.wustl.edu GRCh37 5 79029153 79029153 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000446378.2:c.4565T>G p.Val1522Gly p.V1522G ENST00000446378 NM_153610.3 1522 gTg/gGg 0 Missense_Mutation T 59 CMYA5 SNP 5 T G 79064909 79064909 WashU SPATA31E1 286234 genome.wustl.edu GRCh37 9 90500353 90500353 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000325643.5:c.951C>A p.Gly317= p.G317= ENST00000325643 NM_178828.4 317 ggC/ggA 0 Silent C 26 C9orf79 SNP 9 C A 89690173 89690173 WashU AKAP9 10142 genome.wustl.edu GRCh37 7 91722506 91722506 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356239.3:c.9454G>T p.Glu3152Ter p.E3152* ENST00000356239 NM_147185.2 3152 Gag/Tag 0 Nonsense_Mutation G 41 AKAP9 SNP 7 G T 91560442 91560442 WashU IPPK 64768 genome.wustl.edu GRCh37 9 95400399 95400399 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287996.3:c.800G>A p.Arg267Gln p.R267Q ENST00000287996 NM_022755.5 267 cGg/cAg 0 Missense_Mutation C 23 IPPK SNP 9 C T 94440220 94440220 WashU OR7E102P genome.wustl.edu GRCh37 2 96213137 96213137 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000306515.2:n.851C>A *284* ENST00000306515 0 Missense_Mutation C 22 ENSG00000168992 SNP 2 C A 95576864 95576864 WashU TRIM43CP genome.wustl.edu GRCh37 2 97691939 97691939 + non_coding_transcript_exon_variant RNA SNP A A T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000422468.1:n.807T>A *269* ENST00000422468 0 Missense_Mutation A 4 ENSG00000144188 SNP 2 A T 97055666 97055666 WashU CHD1 1105 genome.wustl.edu GRCh37 5 98236762 98236762 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000284049.3:c.612G>T p.Lys204Asn p.K204N ENST00000284049 NM_001270.2 204 aaG/aaT 0 Missense_Mutation C 32 CHD1 SNP 5 A A 98264662 98264662 WashU ZSCAN21 7589 genome.wustl.edu GRCh37 7 99661412 99661412 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000292450.4:c.594T>A p.Asp198Glu p.D198E ENST00000292450 NM_145914.2 198 gaT/gaA 0 Missense_Mutation T 52 ZSCAN21 SNP 7 T A 99499348 99499348 WashU MOK 5891 genome.wustl.edu GRCh37 14 102695885 102695885 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361847.2:c.1091C>G p.Ser364Cys p.S364C ENST00000361847 NM_014226.2 364 tCc/tGc 0 Missense_Mutation G 41 RAGE SNP 14 G C 101765638 101765638 WashU C12orf42 374470 genome.wustl.edu GRCh37 12 103696330 103696330 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378113.2:c.639C>T p.Ala213= p.A213= ENST00000378113 NM_001278419.1 213 gcC/gcT 0 Silent G 39 C12orf42 SNP 12 A A 102220460 102220460 WashU BTRC 8945 genome.wustl.edu GRCh37 10 103221777 103221777 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370187.3:c.196C>T p.Pro66Ser p.P66S ENST00000370187 NM_033637.3 66 Cct/Tct 0 Missense_Mutation C 22 BTRC SNP 10 C T 103211767 103211767 WashU MGEA5 10724 genome.wustl.edu GRCh37 10 103546267 103546267 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000361464.3:c.2692G>T p.Glu898Ter p.E898* ENST00000361464 NM_012215.3 898 Gaa/Taa 0 Nonsense_Mutation C 29 MGEA5 SNP 10 C A 103536257 103536257 WashU MUM1L1 139221 genome.wustl.edu GRCh37 X 105450659 105450659 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337685.2:c.1234A>T p.Ser412Cys p.S412C ENST00000337685 NM_152423.4 412 Agt/Tgt 0 Missense_Mutation A 3 MUM1L1 SNP 23 A T 105337315 105337315 WashU STXBP3 6814 genome.wustl.edu GRCh37 1 109321979 109321979 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370008.3:c.756G>C p.Leu252= p.L252= ENST00000370008 NM_007269.2 252 ctG/ctC 0 Silent G 45 STXBP3 SNP 1 G C 109123502 109123502 WashU IFT57 55081 genome.wustl.edu GRCh37 3 107932813 107932813 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264538.3:c.550G>A p.Glu184Lys p.E184K ENST00000264538 NM_018010.3 184 Gaa/Aaa 0 Missense_Mutation C 32 IFT57 SNP 3 C T 109415503 109415503 WashU UBL4B 164153 genome.wustl.edu GRCh37 1 110655347 110655347 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334179.3:c.191A>G p.Asn64Ser p.N64S ENST00000334179 NM_203412.1 64 aAt/aGt 0 Missense_Mutation A 4 UBL4B SNP 1 A G 110456870 110456870 WashU KCNA2 3737 genome.wustl.edu GRCh37 1 111146570 111146570 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000485317.1:c.835G>C p.Glu279Gln p.E279Q ENST00000485317 279 Gag/Cag 0 Missense_Mutation C 32 KCNA2 SNP 1 C G 110948093 110948093 WashU NAA25 80018 genome.wustl.edu GRCh37 12 112516501 112516501 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261745.4:c.522G>A p.Leu174= p.L174= ENST00000261745 NM_024953.3 174 ctG/ctA 0 Silent C 25 NAA25 SNP 12 C T 111000884 111000884 WashU ST7 7982 genome.wustl.edu GRCh37 7 116774178 116774178 + missense_variant,splice_region_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000265437.5:c.642A>T p.Glu214Asp p.E214D ENST00000265437 NM_021908.2 214 gaA/gaT 0 Missense_Mutation A 9 ST7 SNP 7 A T 116561414 116561414 WashU SORL1 6653 genome.wustl.edu GRCh37 11 121391551 121391551 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260197.7:c.1397A>G p.Asn466Ser p.N466S ENST00000260197 NM_003105.5 466 aAt/aGt 0 Missense_Mutation A 4 SORL1 SNP 11 A G 120896761 120896761 WashU HCAR2 338442 genome.wustl.edu GRCh37 12 123187089 123187089 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000328880.5:c.742G>A p.Val248Met p.V248M ENST00000328880 NM_177551.3 248 Gtg/Atg 0 Missense_Mutation C 19 GPR109A SNP 12 C T 121753042 121753042 WashU HAS2 3037 genome.wustl.edu GRCh37 8 122641165 122641165 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303924.4:c.416G>T p.Gly139Val p.G139V ENST00000303924 NM_005328.2 139 gGc/gTc 0 Missense_Mutation C 26 HAS2 SNP 8 C A 122710346 122710346 WashU IQUB 154865 genome.wustl.edu GRCh37 7 123152367 123152367 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000466202.1:c.28G>T p.Ala10Ser p.A10S ENST00000466202 NM_001282855.1 10 Gct/Tct 0 Missense_Mutation C 28 IQUB SNP 7 C A 122939603 122939603 WashU MYLK 4638 genome.wustl.edu GRCh37 3 123426709 123426709 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360304.3:c.2282T>A p.Leu761His p.L761H ENST00000360304 NM_053025.3 761 cTc/cAc 0 Missense_Mutation A 11 MYLK SNP 3 A T 124909399 124909399 WashU SLC12A8 84561 genome.wustl.edu GRCh37 3 124909320 124909320 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393469.4:c.97A>C p.Met33Leu p.M33L ENST00000393469 NM_001195483.1 33 Atg/Ctg 0 Missense_Mutation T 51 SLC12A8 SNP 3 G G 126392010 126392010 WashU PTPRK 5796 genome.wustl.edu GRCh37 6 128297859 128297859 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368213.5:c.3930T>A p.Ser1310= p.S1310= ENST00000368213 NM_001135648.1 1310 tcT/tcA 0 Silent A 3 PTPRK SNP 6 A T 128339552 128339552 WashU GPR101 83550 genome.wustl.edu GRCh37 X 136113603 136113603 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298110.1:c.231C>G p.Asp77Glu p.D77E ENST00000298110 NM_054021.1 77 gaC/gaG 0 Missense_Mutation G 44 GPR101 SNP 23 C C 135941269 135941269 WashU CHD1L 9557 genome.wustl.edu GRCh37 1 146767111 146767111 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369258.4:c.2616-1G>A p.X872_splice ENST00000369258 NM_001256336.1 0 Splice_Site_SNP G 33 CHD1L SNP 1 G A 145233735 145233735 WashU EPC2 26122 genome.wustl.edu GRCh37 2 149539287 149539287 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258484.6:c.1795G>T p.Ala599Ser p.A599S ENST00000258484 NM_015630.3 599 Gcc/Tcc 0 Missense_Mutation G 46 EPC2 SNP 2 G T 149255757 149255757 WashU GALNTL5 168391 genome.wustl.edu GRCh37 7 151711779 151711779 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392800.2:c.1077A>G p.Gly359= p.G359= ENST00000392800 NM_145292.3 359 ggA/ggG 0 Silent A 10 GALNTL5 SNP 7 A G 151342712 151342712 WashU LRBA 987 genome.wustl.edu GRCh37 4 151271167 151271167 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357115.3:c.7372A>G p.Ile2458Val p.I2458V ENST00000357115 NM_006726.4 2458 Ata/Gta 0 Missense_Mutation T 52 LRBA SNP 4 C C 151490617 151490617 WashU NEB 4703 genome.wustl.edu GRCh37 2 152346909 152346909 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000397345.3:c.25274G>A p.Gly8425Glu p.G8425E ENST00000397345 NM_001164508.1 8425 gGg/gAg 0 Missense_Mutation C 22 NEB SNP 2 C T 152055155 152055155 WashU KCNAB1 7881 genome.wustl.edu GRCh37 3 155838589 155838589 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000490337.1:c.189G>T p.Leu63= p.L63= ENST00000490337 NM_172160.2 63 ctG/ctT 0 Silent G 46 KCNAB1 SNP 3 G T 157321283 157321283 WashU SLC7A14 57709 genome.wustl.edu GRCh37 3 170244654 170244654 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000231706.5:c.72C>A p.Ser24= p.S24= ENST00000231706 NM_020949.2 24 tcC/tcA 0 Silent G 47 SLC7A14 SNP 3 G T 171727348 171727348 WashU PAPPA2 60676 genome.wustl.edu GRCh37 1 176664958 176664958 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367662.3:c.2709T>G p.Cys903Trp p.C903W ENST00000367662 NM_020318.2 903 tgT/tgG 0 Missense_Mutation T 59 PAPPA2 SNP 1 T G 174931581 174931581 WashU CEP350 9857 genome.wustl.edu GRCh37 1 180061860 180061860 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367607.3:c.6620C>G p.Pro2207Arg p.P2207R ENST00000367607 NM_014810.4 2207 cCa/cGa 0 Missense_Mutation C 21 CEP350 SNP 1 C G 178328483 178328483 WashU TTN 7273 genome.wustl.edu GRCh37 2 179577181 179577181 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.27468G>C p.Gln9156His p.Q9156H ENST00000589042 NM_001267550.1 9156 caG/caC 0 Missense_Mutation C 32 TTN SNP 2 C G 179285426 179285426 WashU CCDC39 339829 genome.wustl.edu GRCh37 3 180377524 180377524 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000442201.2:c.550G>T p.Glu184Ter p.E184* ENST00000442201 NM_181426.1 184 Gaa/Taa 0 Nonsense_Mutation C 30 CCDC39 SNP 3 C A 181860218 181860218 WashU DUSP19 142679 genome.wustl.edu GRCh37 2 183960264 183960264 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354221.4:c.532T>C p.Ser178Pro p.S178P ENST00000354221 NM_080876.3 178 Tct/Cct 0 Missense_Mutation T 62 DUSP19 SNP 2 T C 183668509 183668509 WashU ATP11B 23200 genome.wustl.edu GRCh37 3 182584208 182584208 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000323116.5:c.1596G>T p.Lys532Asn p.K532N ENST00000323116 NM_014616.2 532 aaG/aaT 0 Missense_Mutation G 35 ATP11B SNP 3 G T 184066902 184066902 WashU ZNF804A 91752 genome.wustl.edu GRCh37 2 185800654 185800654 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302277.6:c.531T>A p.Thr177= p.T177= ENST00000302277 NM_194250.1 177 acT/acA 0 Silent T 53 ZNF804A SNP 2 T A 185508899 185508899 WashU KIF21B 23046 genome.wustl.edu GRCh37 1 200959145 200959145 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422435.2:c.3057C>G p.Ser1019= p.S1019= ENST00000422435 NM_001252100.1 1019 tcC/tcG 0 Silent G 39 KIF21B SNP 1 G C 199225768 199225768 WashU AOX1 316 genome.wustl.edu GRCh37 2 201474125 201474125 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374700.2:c.1141T>G p.Leu381Val p.L381V ENST00000374700 NM_001159.3 381 Ttg/Gtg 0 Missense_Mutation T 56 AOX1 SNP 2 T G 201182370 201182370 WashU TUBA4A 7277 genome.wustl.edu GRCh37 2 220115769 220115769 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000248437.4:c.652G>C p.Asp218His p.D218H ENST00000248437 NM_006000.2 218 Gac/Cac 0 Missense_Mutation C 32 TUBA4A SNP 2 C G 219824013 219824013 WashU ITPKB 3707 genome.wustl.edu GRCh37 1 226829735 226829735 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000429204.1:c.2338G>A p.Ala780Thr p.A780T ENST00000429204 NM_002221.3 780 Gcc/Acc 0 Missense_Mutation C 26 ITPKB SNP 1 C T 224896358 224896358 WashU TARBP1 6894 genome.wustl.edu GRCh37 1 234553941 234553941 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000040877.1:c.3594T>C p.Ala1198= p.A1198= ENST00000040877 NM_005646.3 1198 gcT/gcC 0 Silent A 7 TARBP1 SNP 1 A G 232620564 232620564 WashU UGT1A10 54575 genome.wustl.edu GRCh37 2 234545279 234545279 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344644.5:c.111C>G p.His37Gln p.H37Q ENST00000344644 NM_019075.2 37 caC/caG 0 Missense_Mutation C 20 UGT1A10 SNP 2 C G 234210018 234210018 WashU AHCTF1 25909 genome.wustl.edu GRCh37 1 247021017 247021017 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326225.3:c.4259T>A p.Leu1420His p.L1420H ENST00000326225 NM_015446.4 1420 cTt/cAt 0 Missense_Mutation A 3 AHCTF1 SNP 1 A T 245087640 245087640 WashU SFXN3 81855 genome.wustl.edu GRCh37 10 102796226 102796241 + splice_acceptor_variant,intron_variant Splice_Site DEL GGCTTTTCCACCCACA GGCTTTTCCACCCACA - novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 GGCTTTTCCACCCACA GGCTTTTCCACCCACA GGCTTTTCCACCCACA - GGCTTTTCCACCCACA GGCTTTTCCACCCACA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000224807.5:c.444-14_445del p.X148_splice ENST00000224807 NM_030971.3 0 Splice_Site_Del GGCTTTTCCACCCACA 47 SFXN3 DEL 10 GGCTTTTCCACCCACA - 102786231 102786216 WashU BRCA1 672 genome.wustl.edu GRCh37 17 41276044 41276045 + frameshift_variant Frame_Shift_Del DEL AC AC - novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 CT - CT - CT - Unknown Valid Germline Phase_III Capture 454_PCR_WGA;Sanger_PCR_WGA dbGAP Illumina GAIIx ENST00000357654.3:c.71_72del p.Cys24SerfsTer16 p.C24Sfs*16 ENST00000357654 NM_007294.3 23 gaGTgt/gagt 0 Frame_Shift_Del CT 6 BRCA1 DEL 17 CT - 38529571 38529570 WashU SLC9A1 6548 genome.wustl.edu GRCh37 1 27427698 27427698 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263980.3:c.2106C>T p.Gly702= p.G702= ENST00000263980 NM_003047.4 702 ggC/ggT 0 Silent G 34 SLC9A1 SNP 1 A A 27300285 27300285 WashU ARHGEF16 27237 genome.wustl.edu GRCh37 1 3389714 3389714 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378378.4:c.1095G>A p.Glu365= p.E365= ENST00000378378 NM_014448.3 365 gaG/gaA 0 Silent G 34 ARHGEF16 SNP 1 G A 3379574 3379574 WashU CCKBR 887 genome.wustl.edu GRCh37 11 6292408 6292408 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334619.2:c.979G>C p.Ala327Pro p.A327P ENST00000334619 NM_176875.3 327 Gct/Cct 0 Missense_Mutation G 42 CCKBR SNP 11 G C 6248984 6248984 WashU MYO7A 4647 genome.wustl.edu GRCh37 11 76914147 76914147 + missense_variant Missense_Mutation SNP G G C Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000409709.3:c.5211G>C p.Lys1737Asn p.K1737N ENST00000409709 NM_000260.3 1737 aaG/aaC 0 Missense_Mutation G 35 MYO7A SNP 11 G C 76591795 76591795 WashU CACNA1C 775 genome.wustl.edu GRCh37 12 2788613 2788613 + missense_variant Missense_Mutation SNP G G T Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000347598.4:c.5239G>T p.Ala1747Ser p.A1747S ENST00000347598 NM_199460.2 1747 Gcc/Tcc 0 Missense_Mutation G 42 CACNA1C SNP 12 G T 2658874 2658874 WashU SLC15A1 6564 genome.wustl.edu GRCh37 13 99360992 99360992 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376503.5:c.1097T>C p.Val366Ala p.V366A ENST00000376503 NM_005073.3 366 gTc/gCc 0 Missense_Mutation A 10 SLC15A1 SNP 13 A G 98158993 98158993 WashU CILP 8483 genome.wustl.edu GRCh37 15 65499322 65499322 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261883.4:c.222G>T p.Leu74= p.L74= ENST00000261883 NM_003613.3 74 ctG/ctT 0 Silent C 21 CILP SNP 15 C A 63286375 63286375 WashU ABCC1 4363 genome.wustl.edu GRCh37 16 16173319 16173319 + missense_variant Missense_Mutation SNP G G C Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000399410.3:c.2099G>C p.Gly700Ala p.G700A ENST00000399410 NM_004996.3 700 gGg/gCg 0 Missense_Mutation G 43 ABCC1 SNP 16 G C 16080820 16080820 WashU PRSS27 83886 genome.wustl.edu GRCh37 16 2764189 2764190 + stop_gained Nonsense_Mutation DNP CC CC AG novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302641.3:c.384_385delinsCT p.Glu129Ter p.E129* ENST00000302641 NM_031948.3 128 gtGGag/gtCTag 0 Missense CC 30 PRSS27 DNP 16 AG AG 2704191 2704190 WashU WDR90 197335 genome.wustl.edu GRCh37 16 704990 704990 + intron_variant Intron SNP C C T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000293879.4:c.1438-39C>T *480* ENST00000293879 0 Missense_Mutation C 20 LOC100131582 SNP 16 T T 644991 644991 WashU FZD2 2535 genome.wustl.edu GRCh37 17 42636601 42636601 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315323.3:c.1545G>A p.Ser515= p.S515= ENST00000315323 NM_001466.3 515 tcG/tcA 0 Silent G 38 FZD2 SNP 17 G A 39992127 39992127 WashU BCAT2 587 genome.wustl.edu GRCh37 19 49309829 49309829 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316273.6:c.245C>A p.Pro82His p.P82H ENST00000316273 NM_001190.3 82 cCc/cAc 0 Missense_Mutation G 43 BCAT2 SNP 19 G T 54001641 54001641 WashU COL5A2 1290 genome.wustl.edu GRCh37 2 189898938 189898938 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000374866.3:c.4358G>A p.Arg1453Gln p.R1453Q ENST00000374866 NM_000393.3 1453 cGg/cAg 0 Missense_Mutation C 23 COL5A2 SNP 2 C T 189607183 189607183 WashU MFSD2B 388931 genome.wustl.edu GRCh37 2 24244573 24244573 + missense_variant Missense_Mutation SNP T T A Unknown TCGA-13-0887-01 TCGA-13-0887-10 T T T A T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000406420.3:c.737T>A p.Ile246Asn p.I246N ENST00000406420 NM_001080473.1 246 aTc/aAc 0 Missense_Mutation T 50 LOC388931 SNP 2 T A 24098077 24098077 WashU PLXNB2 23654 genome.wustl.edu GRCh37 22 50721516 50721516 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000449103.1:c.2779G>T p.Asp927Tyr p.D927Y ENST00000449103 927 Gac/Tac 0 Missense_Mutation C 30 PLXNB2 SNP 22 A A 49063643 49063643 WashU CRELD1 78987 genome.wustl.edu GRCh37 3 9985176 9985176 + missense_variant Missense_Mutation SNP T T A Unknown TCGA-13-0887-01 TCGA-13-0887-10 T T T A T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000326434.5:c.1025T>A p.Ile342Asn p.I342N ENST00000326434 NM_001031717.3 342 aTc/aAc 0 Missense_Mutation T 50 CRELD1 SNP 3 T A 9960176 9960176 WashU SORCS2 57537 genome.wustl.edu GRCh37 4 7705920 7705920 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000507866.2:c.1777G>A p.Gly593Ser p.G593S ENST00000507866 NM_020777.2 593 Ggc/Agc 0 Missense_Mutation G 43 SORCS2 SNP 4 G A 7756820 7756820 WashU RIMS1 22999 genome.wustl.edu GRCh37 6 72975691 72975691 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000521978.1:c.3337A>T p.Arg1113Trp p.R1113W ENST00000521978 NM_014989.5 1113 Agg/Tgg 0 Missense_Mutation A 15 RIMS1 SNP 6 A T 73032412 73032412 WashU RAPGEF1 2889 genome.wustl.edu GRCh37 9 134464201 134464201 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372190.3:c.2536G>T p.Gly846Trp p.G846W ENST00000372190 NM_198679.1 846 Ggg/Tgg 0 Missense_Mutation C 22 RAPGEF1 SNP 9 C A 133454022 133454022 WashU RCN3 57333 genome.wustl.edu GRCh37 19 50037525 50037525 + synonymous_variant Silent SNP C C T Unknown TCGA-13-0887-01 TCGA-13-0887-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000270645.3:c.318C>T p.Ile106= p.I106= ENST00000270645 NM_020650.2 106 atC/atT 0 Silent C 31 RCN3 SNP 19 C T 54729337 54729337 WashU OR7G1 125962 genome.wustl.edu GRCh37 19 9225597 9225597 + synonymous_variant Silent SNP G G T Unknown TCGA-13-0887-01 TCGA-13-0887-10 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000541538.1:c.843C>A p.Val281= p.V281= ENST00000541538 NM_001005192.2 281 gtC/gtA 0 Silent G 41 OR7G1 SNP 19 G T 9086597 9086597 WashU PITPNA 5306 genome.wustl.edu GRCh37 17 1442213 1442213 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313486.7:c.406G>A p.Val136Met p.V136M ENST00000313486 NM_006224.3 136 Gtg/Atg 0 Missense_Mutation C 19 PITPNA SNP 17 C T 1388963 1388963 WashU LPCAT1 79888 genome.wustl.edu GRCh37 5 1463851 1463851 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000283415.3:c.1520C>T p.Ala507Val p.A507V ENST00000283415 NM_024830.3 507 gCg/gTg 0 Missense_Mutation G 38 LPCAT1 SNP 5 G A 1516851 1516851 WashU PARP11 57097 genome.wustl.edu GRCh37 12 3921561 3921561 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000228820.4:c.745A>G p.Lys249Glu p.K249E ENST00000228820 NM_020367.4 249 Aaa/Gaa 0 Missense_Mutation T 63 PARP11 SNP 12 T C 3791822 3791822 WashU DNAH2 146754 genome.wustl.edu GRCh37 17 7660424 7660424 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000572933.1:c.1920C>G p.Leu640= p.L640= ENST00000572933 640 ctC/ctG 0 Silent C 32 DNAH2 SNP 17 C G 7601149 7601149 WashU LMCD1 29995 genome.wustl.edu GRCh37 3 8609162 8609162 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000157600.3:c.976C>G p.Leu326Val p.L326V ENST00000157600 NM_014583.3 326 Ctg/Gtg 0 Missense_Mutation C 32 LMCD1 SNP 3 C G 8584162 8584162 WashU RAD18 56852 genome.wustl.edu GRCh37 3 8923063 8923063 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264926.2:c.1466G>C p.Arg489Thr p.R489T ENST00000264926 NM_020165.3 489 aGa/aCa 0 Missense_Mutation C 32 RAD18 SNP 3 C G 8898063 8898063 WashU MYH4 4622 genome.wustl.edu GRCh37 17 10362708 10362708 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000255381.2:c.1447T>G p.Phe483Val p.F483V ENST00000255381 NM_017533.2 483 Ttc/Gtc 0 Missense_Mutation A 3 MYH4 SNP 17 A C 10303433 10303433 WashU MYH1 4619 genome.wustl.edu GRCh37 17 10408742 10408742 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000226207.5:c.2261A>T p.Asp754Val p.D754V ENST00000226207 NM_005963.3 754 gAc/gTc 0 Missense_Mutation T 58 MYH1 SNP 17 T A 10349467 10349467 WashU LDLR 3949 genome.wustl.edu GRCh37 19 11240342 11240342 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000558518.1:c.2543C>T p.Pro848Leu p.P848L ENST00000558518 NM_001195798.1 848 cCc/cTc 0 Missense_Mutation C 22 LDLR SNP 19 C T 11101342 11101342 WashU MIIP 60672 genome.wustl.edu GRCh37 1 12089946 12089946 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000235332.4:c.840C>T p.His280= p.H280= ENST00000235332 NM_021933.3 280 caC/caT 0 Silent C 19 MIIP SNP 1 C T 12012533 12012533 WashU MC2R 4158 genome.wustl.edu GRCh37 18 13884639 13884639 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327606.3:c.879C>T p.Cys293= p.C293= ENST00000327606 NM_000529.2 293 tgC/tgT 0 Silent G 46 MC2R SNP 18 G A 13874639 13874639 WashU DDX39A 10212 genome.wustl.edu GRCh37 19 14521893 14521893 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000242776.4:c.521G>A p.Arg174His p.R174H ENST00000242776 NM_005804.3 174 cGc/cAc 0 Missense_Mutation C 27 DDX39 SNP 19 C T 14382893 14382893 WashU APEX1 328 genome.wustl.edu GRCh37 14 20925288 20925288 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216714.3:c.578G>A p.Arg193His p.R193H ENST00000216714 NM_001244249.1 193 cGc/cAc 0 Missense_Mutation G 38 APEX1 SNP 14 G A 19995128 19995128 WashU SLCO1B1 10599 genome.wustl.edu GRCh37 12 21358822 21358822 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256958.2:c.1352A>T p.His451Leu p.H451L ENST00000256958 NM_006446.4 451 cAt/cTt 0 Missense_Mutation A 8 SLCO1B1 SNP 12 A T 21250089 21250089 WashU PHEX 5251 genome.wustl.edu GRCh37 X 22129652 22129652 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379374.4:c.1147C>G p.Gln383Glu p.Q383E ENST00000379374 NM_000444.4 383 Cag/Gag 0 Missense_Mutation C 29 PHEX SNP 23 C G 22039573 22039573 WashU WNT4 54361 genome.wustl.edu GRCh37 1 22448064 22448064 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000290167.6:c.319C>T p.Arg107Trp p.R107W ENST00000290167 NM_030761.4 107 Cgg/Tgg 0 Missense_Mutation G 37 WNT4 SNP 1 G A 22320651 22320651 WashU RP11-492M23.2 genome.wustl.edu GRCh37 10 29188307 29188307 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395291.3:n.116A>G *39* ENST00000395291 0 Missense_Mutation T 64 LOC653665 SNP 10 T C 29228313 29228313 WashU MICB 4277 genome.wustl.edu GRCh37 6 31465979 31465980 + missense_variant Missense_Mutation DNP GG GG TT novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 GG GG GG TT GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000252229.6:c.9_10delinsTT p.Gly4Cys p.G4C ENST00000252229 NM_005931.3 3 ctGGgc/ctTTgc 0 Missense GG 47 MICB DNP 6 GG TT 31573959 31573958 WashU ISX 91464 genome.wustl.edu GRCh37 22 35481509 35481509 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308700.6:c.561G>A p.Ser187= p.S187= ENST00000308700 NM_001008494.1 187 tcG/tcA 0 Silent G 39 ISX SNP 22 G A 33811509 33811509 WashU ZMYM6 9204 genome.wustl.edu GRCh37 1 35474438 35474438 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357182.4:c.1580A>G p.Asn527Ser p.N527S ENST00000357182 NM_007167.3 527 aAt/aGt 0 Missense_Mutation T 52 ZMYM6 SNP 1 T C 35247025 35247025 WashU MLH1 4292 genome.wustl.edu GRCh37 3 37053324 37053324 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000231790.2:c.559A>T p.Asn187Tyr p.N187Y ENST00000231790 NM_000249.3 187 Aat/Tat 0 Missense_Mutation A 5 MLH1 SNP 3 A T 37028328 37028328 WashU NIPBL 25836 genome.wustl.edu GRCh37 5 37026373 37026373 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282516.8:c.5752A>G p.Thr1918Ala p.T1918A ENST00000282516 NM_133433.3 1918 Act/Gct 0 Missense_Mutation A 2 NIPBL SNP 5 A G 37062130 37062130 WashU MACF1 23499 genome.wustl.edu GRCh37 1 39905072 39905072 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000545844.1:c.12170C>G p.Ala4057Gly p.A4057G ENST00000545844 4057 gCt/gGt 0 Missense_Mutation C 28 MACF1 SNP 1 C G 39677659 39677659 WashU LRRC4C 57689 genome.wustl.edu GRCh37 11 40137584 40137584 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000278198.2:c.259C>G p.Gln87Glu p.Q87E ENST00000278198 87 Caa/Gaa 0 Missense_Mutation G 47 LRRC4C SNP 11 G C 40094160 40094160 WashU PTPRT 11122 genome.wustl.edu GRCh37 20 41419875 41419875 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373198.4:c.446C>T p.Ala149Val p.A149V ENST00000373198 NM_133170.3 149 gCa/gTa 0 Missense_Mutation G 46 PTPRT SNP 20 G A 40853289 40853289 WashU TCF20 6942 genome.wustl.edu GRCh37 22 42608132 42608132 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359486.3:c.3180C>G p.Ala1060= p.A1060= ENST00000359486 NM_005650.2 1060 gcC/gcG 0 Silent G 35 TCF20 SNP 22 G C 40938076 40938076 WashU TUBGCP4 27229 genome.wustl.edu GRCh37 15 43689444 43689444 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000564079.1:c.1204A>C p.Lys402Gln p.K402Q ENST00000564079 NM_014444.2 402 Aag/Cag 0 Missense_Mutation A 5 TUBGCP4 SNP 15 A C 41476736 41476736 WashU YBX1 4904 genome.wustl.edu GRCh37 1 43162404 43162404 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321358.7:c.446C>G p.Pro149Arg p.P149R ENST00000321358 NM_004559.3 149 cCa/cGa 0 Missense_Mutation C 21 YBX1 SNP 1 C G 42934991 42934991 WashU YBX1 4904 genome.wustl.edu GRCh37 1 43166659 43166659 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321358.7:c.948C>T p.Pro316= p.P316= ENST00000321358 NM_004559.3 316 ccC/ccT 0 Silent C 23 YBX1 SNP 1 C T 42939246 42939246 WashU CDK2AP2P1 728297 genome.wustl.edu GRCh37 9 45362629 45362629 + upstream_gene_variant 5'Flank SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000492018 0 Silent G 38 LOC728297 SNP 9 G A 45252625 45252625 WashU WFIKKN2 124857 genome.wustl.edu GRCh37 17 48917135 48917135 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311378.4:c.486G>C p.Glu162Asp p.E162D ENST00000311378 NM_175575.5 162 gaG/gaC 0 Missense_Mutation G 35 WFIKKN2 SNP 17 G C 46272134 46272134 WashU SHC4 399694 genome.wustl.edu GRCh37 15 49127214 49127214 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332408.4:c.1489C>A p.Pro497Thr p.P497T ENST00000332408 NM_203349.3 497 Cca/Aca 0 Missense_Mutation G 44 SHC4 SNP 15 T T 46914506 46914506 WashU SLC38A5 92745 genome.wustl.edu GRCh37 X 48318119 48318119 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376876.3:c.1212C>T p.Ile404= p.I404= ENST00000376876 404 atC/atT 0 Silent G 37 SLC38A5 SNP 23 G A 48203063 48203063 WashU FAM65C 140876 genome.wustl.edu GRCh37 20 49209686 49209686 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327979.2:c.2248C>T p.Pro750Ser p.P750S ENST00000327979 750 Ccc/Tcc 0 Missense_Mutation G 43 FAM65C SNP 20 G A 48643093 48643093 WashU ZNF224 7767 genome.wustl.edu GRCh37 19 44611668 44611668 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336976.6:c.1355G>T p.Gly452Val p.G452V ENST00000336976 NM_013398.2 452 gGa/gTa 0 Missense_Mutation G 41 ZNF224 SNP 19 G T 49303508 49303508 WashU ATF1 466 genome.wustl.edu GRCh37 12 51203255 51203255 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262053.3:c.211T>A p.Leu71Ile p.L71I ENST00000262053 NM_005171.4 71 Tta/Ata 0 Missense_Mutation T 56 ATF1 SNP 12 T A 49489522 49489522 WashU RELB 5971 genome.wustl.edu GRCh37 19 45535916 45535916 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000221452.8:c.1116C>G p.Val372= p.V372= ENST00000221452 NM_006509.3 372 gtC/gtG 0 Silent C 31 RELB SNP 19 C G 50227756 50227756 WashU PTGDR 5729 genome.wustl.edu GRCh37 14 52734924 52734924 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306051.2:c.392G>T p.Trp131Leu p.W131L ENST00000306051 NM_000953.2 131 tGg/tTg 0 Missense_Mutation G 47 PTGDR SNP 14 G T 51804674 51804674 WashU C5AR2 27202 genome.wustl.edu GRCh37 19 47844955 47844955 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000595464.1:c.899G>T p.Arg300Leu p.R300L ENST00000595464 NM_001271749.1 300 cGc/cTc 0 Missense_Mutation G 38 GPR77 SNP 19 G T 52536795 52536795 WashU PPM1E 22843 genome.wustl.edu GRCh37 17 57043102 57043103 + missense_variant Missense_Mutation DNP GA GA AG novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 GA GA GA AG GA GA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308249.2:c.631_632delinsAG p.Glu211Arg p.E211R ENST00000308249 NM_014906.4 211 GAg/AGg 0 Missense GA 37 PPM1E DNP 17 GA AG 54397885 54397884 WashU KLK12 43849 genome.wustl.edu GRCh37 19 51534152 51534152 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000250351.4:c.483C>T p.Cys161= p.C161= ENST00000250351 161 tgC/tgT 0 Missense_Mutation G 42 KLK12 SNP 19 G A 56225964 56225964 WashU ZNF479 90827 genome.wustl.edu GRCh37 7 57188077 57188077 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000331162.4:c.1045A>G p.Arg349Gly p.R349G ENST00000331162 NM_033273.1 349 Aga/Gga 0 Missense_Mutation T 53 ZNF479 SNP 7 T C 57192019 57192019 WashU GLYATL2 219970 genome.wustl.edu GRCh37 11 58604586 58604586 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287275.1:c.378T>A p.Asp126Glu p.D126E ENST00000287275 NM_145016.3 126 gaT/gaA 0 Missense_Mutation A 4 GLYATL2 SNP 11 A T 58361162 58361162 WashU FAM19A2 338811 genome.wustl.edu GRCh37 12 62148734 62148734 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000416284.3:c.178G>C p.Glu60Gln p.E60Q ENST00000416284 NM_178539.4 60 Gaa/Caa 0 Missense_Mutation C 32 FAM19A2 SNP 12 C G 60435001 60435001 WashU TLN2 83660 genome.wustl.edu GRCh37 15 63131054 63131054 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000561311.1:c.7375-1G>A p.X2459_splice ENST00000561311 0 Splice_Site_SNP G 35 TLN2 SNP 15 G A 60918107 60918107 WashU GPRC5C 55890 genome.wustl.edu GRCh37 17 72435976 72435976 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392627.1:c.196G>A p.Ala66Thr p.A66T ENST00000392627 NM_022036.2 66 Gcc/Acc 0 Missense_Mutation G 42 GPRC5C SNP 17 G A 69947571 69947571 WashU CCAR1 55749 genome.wustl.edu GRCh37 10 70506999 70506999 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265872.6:c.600G>C p.Trp200Cys p.W200C ENST00000265872 NM_018237.2 200 tgG/tgC 0 Missense_Mutation G 41 CCAR1 SNP 10 G C 70177005 70177005 WashU PGM5 5239 genome.wustl.edu GRCh37 9 71080034 71080034 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396396.1:c.1069G>T p.Val357Leu p.V357L ENST00000396396 NM_021965.3 357 Gta/Tta 0 Missense_Mutation G 48 PGM5 SNP 9 G T 70269854 70269854 WashU C9orf135 138255 genome.wustl.edu GRCh37 9 72435915 72435915 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377197.3:c.120G>A p.Lys40= p.K40= ENST00000377197 NM_001010940.1 40 aaG/aaA 0 Silent G 33 C9orf135 SNP 9 G A 71625735 71625735 WashU PLEKHB1 58473 genome.wustl.edu GRCh37 11 73361656 73361656 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354190.5:c.153G>T p.Leu51= p.L51= ENST00000354190 NM_021200.2 51 ctG/ctT 0 Silent G 47 PLEKHB1 SNP 11 G T 73039304 73039304 WashU ZNF592 9640 genome.wustl.edu GRCh37 15 85342397 85342397 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299927.3:c.3093C>T p.His1031= p.H1031= ENST00000299927 1031 caC/caT 0 Silent C 17 ZNF592 SNP 15 C T 83143401 83143401 WashU BACH2 60468 genome.wustl.edu GRCh37 6 90642163 90642163 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257749.4:c.2490T>C p.Cys830= p.C830= ENST00000257749 NM_021813.2 830 tgT/tgC 0 Silent A 14 BACH2 SNP 6 A G 90698884 90698884 WashU ABCA4 24 genome.wustl.edu GRCh37 1 94548924 94548924 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370225.3:c.842C>T p.Ser281Leu p.S281L ENST00000370225 NM_000350.2 281 tCa/tTa 0 Missense_Mutation G 45 ABCA4 SNP 1 G A 94321512 94321512 WashU DNAJC3 5611 genome.wustl.edu GRCh37 13 96395151 96395151 + intron_variant Intron SNP T T A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000602402.1:c.394-14747T>A *132* ENST00000602402 NM_006260.4 0 Missense_Mutation T 60 DNAJC3 SNP 13 T A 95193152 95193152 WashU DPYD 1806 genome.wustl.edu GRCh37 1 98015114 98015114 + splice_donor_variant Splice_Site SNP A A T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370192.3:c.1524+2T>A p.X508_splice ENST00000370192 NM_000110.3 0 Splice_Site_SNP A 14 DPYD SNP 1 A T 97787702 97787702 WashU TMEM131 23505 genome.wustl.edu GRCh37 2 98430603 98430603 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000186436.5:c.1448T>C p.Val483Ala p.V483A ENST00000186436 NM_015348.1 483 gTt/gCt 0 Missense_Mutation A 2 TMEM131 SNP 2 A G 97797035 97797035 WashU MATN2 4147 genome.wustl.edu GRCh37 8 99039928 99039928 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000520016.1:c.2227G>T p.Glu743Ter p.E743* ENST00000520016 743 Gag/Tag 0 Nonsense_Mutation G 45 MATN2 SNP 8 G T 99109104 99109104 WashU CHST10 9486 genome.wustl.edu GRCh37 2 101014521 101014521 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264249.3:c.276C>A p.Cys92Ter p.C92* ENST00000264249 NM_004854.4 92 tgC/tgA 0 Nonsense_Mutation G 46 CHST10 SNP 2 G T 100380953 100380953 WashU MYL10 93408 genome.wustl.edu GRCh37 7 101267528 101267528 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000223167.4:c.95G>A p.Arg32Gln p.R32Q ENST00000223167 NM_138403.4 32 cGg/cAg 0 Missense_Mutation C 23 MYL10 SNP 7 C T 101054248 101054248 WashU TPP2 7174 genome.wustl.edu GRCh37 13 103280241 103280241 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376065.4:c.983G>C p.Ser328Thr p.S328T ENST00000376065 NM_003291.2 328 aGt/aCt 0 Missense_Mutation G 36 TPP2 SNP 13 G C 102078242 102078242 WashU PKHD1L1 93035 genome.wustl.edu GRCh37 8 110457743 110457743 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378402.5:c.5645G>A p.Cys1882Tyr p.C1882Y ENST00000378402 NM_177531.4 1882 tGc/tAc 0 Missense_Mutation G 46 PKHD1L1 SNP 8 G A 110526919 110526919 WashU ZC3H6 376940 genome.wustl.edu GRCh37 2 113067586 113067586 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409871.1:c.461A>G p.Asp154Gly p.D154G ENST00000409871 NM_198581.2 154 gAc/gGc 0 Missense_Mutation A 10 ZC3H6 SNP 2 A G 112784057 112784057 WashU RBM7 10179 genome.wustl.edu GRCh37 11 114278229 114278229 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000540163.1:c.501A>T p.Gln167His p.Q167H ENST00000540163 NM_001286048.1 167 caA/caT 0 Missense_Mutation A 4 RBM7 SNP 11 A T 113783439 113783439 WashU SYNPO2 171024 genome.wustl.edu GRCh37 4 119952995 119952995 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307142.4:c.3065C>T p.Ser1022Leu p.S1022L ENST00000307142 NM_133477.2 1022 tCg/tTg 0 Missense_Mutation C 31 SYNPO2 SNP 4 C T 120172443 120172443 WashU HCAR1 27198 genome.wustl.edu GRCh37 12 123214524 123214524 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000432564.1:c.363C>T p.His121= p.H121= ENST00000432564 NM_032554.3 121 caC/caT 0 Silent G 44 GPR81 SNP 12 A A 121780477 121780477 WashU C11orf63 79864 genome.wustl.edu GRCh37 11 122830102 122830102 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000227349.2:c.2286C>T p.His762= p.H762= ENST00000227349 NM_024806.3 762 caC/caT 0 Silent C 19 C11orf63 SNP 11 C T 122335312 122335312 WashU ZNF608 57507 genome.wustl.edu GRCh37 5 123983883 123983883 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306315.5:c.2194C>G p.Leu732Val p.L732V ENST00000306315 NM_020747.2 732 Ctg/Gtg 0 Missense_Mutation G 36 ZNF608 SNP 5 G C 124011782 124011782 WashU OR1Q1 158131 genome.wustl.edu GRCh37 9 125377715 125377715 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297913.2:c.699C>T p.Gly233= p.G233= ENST00000297913 NM_012364.1 233 ggC/ggT 0 Silent C 25 OR1Q1 SNP 9 C T 124417536 124417536 WashU STXBP1 6812 genome.wustl.edu GRCh37 9 130453129 130453129 + 3_prime_UTR_variant 3'UTR SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373302.3:c.*92G>A *31* ENST00000373302 NM_003165.3 0 Missense_Mutation G 34 STXBP1 SNP 9 G A 129492950 129492950 WashU EXOC4 60412 genome.wustl.edu GRCh37 7 133602392 133602392 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253861.4:c.1928A>G p.Asp643Gly p.D643G ENST00000253861 NM_021807.3 643 gAt/gGt 0 Missense_Mutation A 12 EXOC4 SNP 7 A G 133252932 133252932 WashU KDM3B 51780 genome.wustl.edu GRCh37 5 137727944 137727944 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314358.5:c.2623C>A p.Leu875Met p.L875M ENST00000314358 NM_016604.3 875 Ctg/Atg 0 Missense_Mutation C 24 KDM3B SNP 5 C A 137755843 137755843 WashU PCDH1 5097 genome.wustl.edu GRCh37 5 141243662 141243662 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287008.3:c.2234A>T p.Asp745Val p.D745V ENST00000287008 NM_032420.3 745 gAc/gTc 0 Missense_Mutation T 58 PCDH1 SNP 5 T A 141223846 141223846 WashU SLC9A9 285195 genome.wustl.edu GRCh37 3 143515741 143515741 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316549.6:c.383C>T p.Thr128Ile p.T128I ENST00000316549 NM_173653.3 128 aCa/aTa 0 Missense_Mutation G 48 SLC9A9 SNP 3 G A 144998431 144998431 WashU SV2A 9900 genome.wustl.edu GRCh37 1 149881106 149881106 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369146.3:c.1197G>T p.Thr399= p.T399= ENST00000369146 NM_014849.4 399 acG/acT 0 Silent C 31 SV2A SNP 1 C A 148147730 148147730 WashU SETDB1 9869 genome.wustl.edu GRCh37 1 150921932 150921932 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271640.5:c.1511C>G p.Ser504Cys p.S504C ENST00000271640 NM_001145415.1 504 tCc/tGc 0 Missense_Mutation C 30 SETDB1 SNP 1 C G 149188556 149188556 WashU SCNM1 79005 genome.wustl.edu GRCh37 1 151140771 151140771 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368905.4:c.550C>A p.Pro184Thr p.P184T ENST00000368905 NM_024041.3 184 Ccc/Acc 0 Missense_Mutation C 22 SCNM1 SNP 1 C A 149407395 149407395 WashU FGB 2244 genome.wustl.edu GRCh37 4 155491581 155491581 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302068.4:c.1255G>T p.Asp419Tyr p.D419Y ENST00000302068 NM_005141.4 419 Gat/Tat 0 Missense_Mutation G 33 FGB SNP 4 G T 155711031 155711031 WashU SLC33A1 9197 genome.wustl.edu GRCh37 3 155560290 155560290 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392845.3:c.894C>T p.Tyr298= p.Y298= ENST00000392845 298 taC/taT 0 Silent G 48 SLC33A1 SNP 3 G A 157042984 157042984 WashU KCNAB1 7881 genome.wustl.edu GRCh37 3 156009909 156009909 + intron_variant Intron SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000490337.1:c.276-129496G>A *92* ENST00000490337 NM_172160.2 0 Missense_Mutation G 45 KCNAB1 SNP 3 G A 157492603 157492603 WashU SLC22A3 6581 genome.wustl.edu GRCh37 6 160872083 160872083 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000275300.2:c.1666C>T p.Leu556Phe p.L556F ENST00000275300 NM_021977.3 556 Ctt/Ttt 0 Missense_Mutation C 24 SLC22A3 SNP 6 C T 160792073 160792073 WashU AC092162.2 genome.wustl.edu GRCh37 2 177674277 177674277 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000432828.1:n.311C>G *104* ENST00000432828 0 Missense_Mutation G 43 LOC100131991 SNP 2 G C 177382523 177382523 WashU ANKRD44 91526 genome.wustl.edu GRCh37 2 197870559 197870559 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282272.8:c.2182G>A p.Gly728Arg p.G728R ENST00000282272 NM_001195144.1 728 Ggg/Agg 0 Missense_Mutation C 24 ANKRD44 SNP 2 C T 197578804 197578804 WashU HHAT 55733 genome.wustl.edu GRCh37 1 210686532 210686532 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000545154.1:c.1046G>A p.Arg349Lys p.R349K ENST00000545154 NM_001170587.1 349 aGg/aAg 0 Missense_Mutation G 35 HHAT SNP 1 G A 208753155 208753155 WashU USH2A 7399 genome.wustl.edu GRCh37 1 215972433 215972433 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307340.3:c.9774G>T p.Arg3258= p.R3258= ENST00000307340 NM_206933.2 3258 cgG/cgT 0 Silent C 22 USH2A SNP 1 C A 214039056 214039056 WashU RYR2 6262 genome.wustl.edu GRCh37 1 237777662 237777662 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366574.2:c.5234A>C p.Lys1745Thr p.K1745T ENST00000366574 NM_001035.2 1745 aAa/aCa 0 Missense_Mutation A 1 RYR2 SNP 1 A C 235844285 235844285 WashU OR2C3 81472 genome.wustl.edu GRCh37 1 247695179 247695179 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366487.3:c.635T>G p.Leu212Arg p.L212R ENST00000366487 NM_198074.4 212 cTg/cGg 0 Missense_Mutation A 7 OR2C3 SNP 1 A C 245761802 245761802 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578505 7578511 + frameshift_variant Frame_Shift_Del DEL GGGCAGG GGGCAGG - novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 GGGCAGG GGGCAGG GGGCAGG - GGGCAGG GGGCAGG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.419_425del p.Thr140MetfsTer28 p.T140Mfs*28 ENST00000269305 NM_001126112.2 140 aCCTGCCCt/at 0 Frame_Shift_Del GGGCAGG 35 TP53 DEL 17 GGGCAGG - 7519236 7519230 WashU RPN1 6184 genome.wustl.edu GRCh37 3 128350847 128350848 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 - - - T - - Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296255.3:c.786dup p.Arg263ThrfsTer3 p.R263Tfs*3 ENST00000296255 NM_002950.3 262 -/A 0 Frame_Shift_Ins - 40 RPN1 INS 3 - T 129833538 129833537 WashU FLG2 388698 genome.wustl.edu GRCh37 1 152324686 152324686 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000388718.5:c.5576A>C p.Gln1859Pro p.Q1859P ENST00000388718 NM_001014342.2 1859 cAa/cCa 0 Missense_Mutation T 63 FLG2 SNP 1 T G 150591310 150591310 WashU DENND4B 9909 genome.wustl.edu GRCh37 1 153903207 153903207 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361217.4:c.4241A>T p.Glu1414Val p.E1414V ENST00000361217 NM_014856.2 1414 gAa/gTa 0 Missense_Mutation T 62 DENND4B SNP 1 T A 152169831 152169831 WashU OBSCN 84033 genome.wustl.edu GRCh37 1 228444596 228444596 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000570156.2:c.4830C>G p.Ser1610Arg p.S1610R ENST00000570156 NM_001271223.2 1610 agC/agG 0 Missense_Mutation C 26 OBSCN SNP 1 C G 226511219 226511219 WashU PPP2R5C 5527 genome.wustl.edu GRCh37 14 102384182 102384182 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422945.2:c.1434T>G p.Ser478Arg p.S478R ENST00000422945 NM_001161725.1 478 agT/agG 0 Missense_Mutation T 58 PPP2R5C SNP 14 T G 101453935 101453935 WashU CDCA4 55038 genome.wustl.edu GRCh37 14 105478068 105478068 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336219.3:c.199C>T p.Arg67Trp p.R67W ENST00000336219 NM_017955.3 67 Cgg/Tgg 0 Missense_Mutation G 39 CDCA4 SNP 14 G A 104549113 104549113 WashU RBM33 155435 genome.wustl.edu GRCh37 7 155537869 155537869 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000401878.3:c.2552C>G p.Ser851Ter p.S851* ENST00000401878 NM_053043.2 851 tCa/tGa 0 Nonsense_Mutation C 29 RBM33 SNP 7 C G 155230630 155230630 WashU H2BFM 286436 genome.wustl.edu GRCh37 X 103294694 103294694 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1507-01 TCGA-13-1507-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355016.3:c.151C>T p.Arg51Cys p.R51C ENST00000355016 NM_001164416.1 51 Cgc/Tgc 0 Missense_Mutation C 23 H2BFM SNP 23 T T 103181350 103181350 WashU SPEN 23013 broad.mit.edu GRCh37 1 16261282 16261282 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 G A G G Unknown Valid Somatic x x 454_PCR_WGA x ENST00000375759.3:c.8547G>A p.Gln2849= p.Q2849= ENST00000375759 NM_015001.2 2849 caG/caA 0 Silent G 36 SPEN SNP 1 G A 16133869 16133869 Broad LEPRE1 64175 broad.mit.edu GRCh37 1 43232304 43232304 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000236040.4:c.339T>A p.Leu113= p.L113= ENST00000236040 NM_001243246.1 113 ctT/ctA 0 Silent A 9 LEPRE1 SNP 1 A T 43004891 43004891 Broad AIM2 9447 broad.mit.edu GRCh37 1 159043085 159043085 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 A T A A Unknown Valid Somatic x x 454_PCR_WGA x ENST00000368130.4:c.205T>A p.Phe69Ile p.F69I ENST00000368130 NM_004833.1 69 Ttt/Att 0 Missense_Mutation A 1 AIM2 SNP 1 A T 157309709 157309709 Broad ABCC2 1244 broad.mit.edu GRCh37 10 101572886 101572886 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000370449.4:c.2079G>T p.Gly693= p.G693= ENST00000370449 NM_000392.3 693 ggG/ggT 0 Silent G 42 ABCC2 SNP 10 G T 101562876 101562876 Broad MICALCL 84953 broad.mit.edu GRCh37 11 12316364 12316364 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000256186.2:c.1386T>C p.Pro462= p.P462= ENST00000256186 NM_032867.2 462 ccT/ccC 0 Silent T 54 MICALCL SNP 11 T C 12272940 12272940 Broad CELF1 10658 broad.mit.edu GRCh37 11 47500431 47500431 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000532048.1:c.839G>T p.Gly280Val p.G280V ENST00000532048 NM_001172639.1 280 gGa/gTa 0 Missense_Mutation C 30 CELF1 SNP 11 C A 47457007 47457007 Broad AHNAK 79026 broad.mit.edu GRCh37 11 62301009 62301009 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000378024.4:c.880C>A p.Pro294Thr p.P294T ENST00000378024 NM_001620.2 294 Cca/Aca 0 Missense_Mutation G 43 AHNAK SNP 11 G T 62057585 62057585 Broad C11orf52 91894 broad.mit.edu GRCh37 11 111796415 111796415 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000278601.5:c.109C>T p.Gln37Ter p.Q37* ENST00000278601 NM_080659.2 37 Cag/Tag 0 Nonsense_Mutation C 17 C11orf52 SNP 11 C T 111301625 111301625 Broad GLB1L3 112937 broad.mit.edu GRCh37 11 134177017 134177017 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000431683.2:c.877-1G>T p.X293_splice ENST00000431683 NM_001080407.2 0 Splice_Site_SNP G 33 GLB1L3 SNP 11 G T 133682227 133682227 Broad SACS 26278 broad.mit.edu GRCh37 13 23911439 23911439 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 G A G G Unknown Valid Somatic x x 454_PCR_WGA x ENST00000382298.3:c.6576C>T p.Ile2192= p.I2192= ENST00000382298 NM_014363.5 2192 atC/atT 0 Silent G 37 SACS SNP 13 G A 22809439 22809439 Broad TBC1D4 9882 broad.mit.edu GRCh37 13 75869117 75869117 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000377636.3:c.3189T>C p.His1063= p.H1063= ENST00000377636 NM_014832.2 1063 caT/caC 0 Silent A 8 TBC1D4 SNP 13 A G 74767118 74767118 Broad VRTN 55237 broad.mit.edu GRCh37 14 74825030 74825030 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 C T C C Unknown Valid Somatic x x 454_PCR_WGA;Sequenom_PCR_WGA x ENST00000256362.4:c.1544C>T p.Ala515Val p.A515V ENST00000256362 NM_018228.2 515 gCc/gTc 0 Missense_Mutation C 26 C14orf115 SNP 14 C T 73894783 73894783 Broad PACS2 23241 broad.mit.edu GRCh37 14 105849770 105849770 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000458164.2:c.1700T>C p.Ile567Thr p.I567T ENST00000458164 NM_001100913.2 567 aTc/aCc 0 Missense_Mutation T 50 PACS2 SNP 14 T C 104920815 104920815 Broad GABRB3 2562 broad.mit.edu GRCh37 15 26793203 26793203 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000311550.5:c.1159G>A p.Asp387Asn p.D387N ENST00000311550 NM_000814.5 387 Gat/Aat 0 Missense_Mutation C 31 GABRB3 SNP 15 C T 24344296 24344296 Broad ABHD2 11057 broad.mit.edu GRCh37 15 89734322 89734322 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000352732.5:c.938G>T p.Gly313Val p.G313V ENST00000352732 NM_152924.4 313 gGc/gTc 0 Missense_Mutation G 42 ABHD2 SNP 15 G T 87535326 87535326 Broad PDPK1 5170 broad.mit.edu GRCh37 16 2647124 2647124 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000342085.4:c.1402G>C p.Gly468Arg p.G468R ENST00000342085 NM_002613.4 468 Ggt/Cgt 0 Missense_Mutation G 43 PDPK1 SNP 16 G C 2587125 2587125 Broad TEFM 79736 broad.mit.edu GRCh37 17 29226567 29226567 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000581216.1:c.703G>T p.Gly235Ter p.G235* ENST00000581216 NM_024683.3 235 Gga/Tga 0 Nonsense_Mutation C 24 C17orf42 SNP 17 C A 26250693 26250693 Broad PNPLA6 10908 broad.mit.edu GRCh37 19 7621564 7621564 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000414982.3:c.3264C>T p.Asn1088= p.N1088= ENST00000414982 NM_001166111.1 1088 aaC/aaT 0 Silent C 19 PNPLA6 SNP 19 C T 7527564 7527564 Broad ZNF486 90649 broad.mit.edu GRCh37 19 20307880 20307880 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000335117.8:c.361C>T p.His121Tyr p.H121Y ENST00000335117 NM_052852.3 121 Cac/Tac 0 Missense_Mutation C 17 ZNF486 SNP 19 C T 20168880 20168880 Broad KIAA0355 9710 broad.mit.edu GRCh37 19 34818947 34818947 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000299505.6:c.995C>G p.Pro332Arg p.P332R ENST00000299505 NM_014686.3 332 cCg/cGg 0 Missense_Mutation C 23 KIAA0355 SNP 19 C G 39510787 39510787 Broad DHDH 27294 broad.mit.edu GRCh37 19 49439401 49439401 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000221403.2:c.315A>T p.Glu105Asp p.E105D ENST00000221403 NM_014475.3 105 gaA/gaT 0 Missense_Mutation A 3 DHDH SNP 19 A T 54131213 54131213 Broad EXOC6B 23233 broad.mit.edu GRCh37 2 72727056 72727056 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000272427.6:c.1213A>T p.Ile405Phe p.I405F ENST00000272427 NM_015189.1 405 Att/Ttt 0 Missense_Mutation T 51 EXOC6B SNP 2 T A 72580564 72580564 Broad CNTNAP5 129684 broad.mit.edu GRCh37 2 125262000 125262000 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000431078.1:c.1191A>C p.Thr397= p.T397= ENST00000431078 NM_130773.3 397 acA/acC 0 Silent A 8 CNTNAP5 SNP 2 A C 124978470 124978470 Broad CHRNA1 1134 broad.mit.edu GRCh37 2 175619076 175619076 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000261007.5:c.486G>A p.Thr162= p.T162= ENST00000261007 NM_001039523.2 162 acG/acA 0 Silent C 19 CHRNA1 SNP 2 C T 175327322 175327322 Broad CPO 130749 broad.mit.edu GRCh37 2 207804354 207804354 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000272852.3:c.31T>C p.Leu11= p.L11= ENST00000272852 NM_173077.2 11 Ttg/Ctg 0 Silent T 64 CPO SNP 2 T C 207512599 207512599 Broad PLCD4 84812 broad.mit.edu GRCh37 2 219498451 219498451 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000450993.2:c.1573G>A p.Glu525Lys p.E525K ENST00000450993 NM_032726.3 525 Gaa/Aaa 0 Missense_Mutation G 45 PLCD4 SNP 2 G A 219206695 219206695 Broad PAX3 5077 broad.mit.edu GRCh37 2 223158470 223158470 + intron_variant Intron SNP G G T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000392069.2:c.586+416C>A *196* ENST00000392069 NM_001127366.2 0 Missense_Mutation G 42 PAX3 SNP 2 G T 222866714 222866714 Broad CST1 1469 broad.mit.edu GRCh37 20 23731339 23731339 + synonymous_variant Silent SNP A A G rs3188296 Unknown TCGA-13-0751-01 TCGA-13-0751-10 A G A A Unknown Valid Somatic x x ManualReview x ENST00000304749.2:c.165T>C p.Tyr55= p.Y55= ENST00000304749 NM_001898.2 55 taT/taC 0 Silent A 16 CST1 SNP 20 A G 23679339 23679339 Broad HYAL2 8692 broad.mit.edu GRCh37 3 50357666 50357666 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 C G C C Unknown Valid Somatic x x 454_PCR_WGA;Sequenom_PCR_WGA x ENST00000447092.1:c.255G>C p.Leu85= p.L85= ENST00000447092 85 ctG/ctC 0 Silent C 17 HYAL2 SNP 3 C G 50332670 50332670 Broad GPR149 344758 broad.mit.edu GRCh37 3 154147152 154147152 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000389740.2:c.253G>A p.Val85Met p.V85M ENST00000389740 NM_001038705.1 85 Gtg/Atg 0 Missense_Mutation C 18 GPR149 SNP 3 C T 155629846 155629846 Broad LPP 4026 broad.mit.edu GRCh37 3 188592229 188592229 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000312675.4:c.1801A>C p.Ile601Leu p.I601L ENST00000312675 NM_005578.3 601 Atc/Ctc 0 Missense_Mutation A 8 LPP SNP 3 A C 190074923 190074923 Broad TAF9 6880 broad.mit.edu GRCh37 5 68665299 68665299 + intron_variant Intron SNP G G C novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000328663.4:c.-111+185C>G *37* ENST00000328663 NM_001015892.1 0 Missense_Mutation G 35 TAF9 SNP 5 G C 68701055 68701055 Broad SLC4A9 83697 broad.mit.edu GRCh37 5 139743649 139743649 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000230993.6:c.1337A>G p.Glu446Gly p.E446G ENST00000230993 NM_001258428.1 446 gAa/gGa 0 Missense_Mutation A 9 SLC4A9 SNP 5 A G 139723833 139723833 Broad DUSP1 1843 broad.mit.edu GRCh37 5 172197180 172197180 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000239223.3:c.497C>A p.Thr166Asn p.T166N ENST00000239223 NM_004417.3 166 aCc/aAc 0 Missense_Mutation G 44 DUSP1 SNP 5 G T 172129786 172129786 Broad RING1 6015 broad.mit.edu GRCh37 6 33179072 33179072 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000374656.4:c.593C>T p.Pro198Leu p.P198L ENST00000374656 NM_002931.3 198 cCt/cTt 0 Missense_Mutation C 24 RING1 SNP 6 C T 33287050 33287050 Broad ANKRD6 22881 broad.mit.edu GRCh37 6 90276810 90276810 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000522441.1:c.115A>T p.Thr39Ser p.T39S ENST00000522441 NM_001242811.1 39 Acc/Tcc 0 Missense_Mutation A 14 ANKRD6 SNP 6 A T 90333529 90333529 Broad UFL1 23376 broad.mit.edu GRCh37 6 96988491 96988491 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000369278.4:c.1239T>C p.Ser413= p.S413= ENST00000369278 NM_015323.4 413 agT/agC 0 Silent T 57 KIAA0776 SNP 6 T C 97095212 97095212 Broad PDE7B 27115 broad.mit.edu GRCh37 6 136475307 136475307 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000308191.6:c.573G>T p.Glu191Asp p.E191D ENST00000308191 NM_018945.3 191 gaG/gaT 0 Missense_Mutation G 34 PDE7B SNP 6 G T 136517000 136517000 Broad AGPAT4 56895 broad.mit.edu GRCh37 6 161587307 161587307 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000320285.4:c.321C>G p.Ser107Arg p.S107R ENST00000320285 NM_020133.2 107 agC/agG 0 Missense_Mutation G 42 AGPAT4 SNP 6 G C 161507297 161507297 Broad C7orf63 79846 broad.mit.edu GRCh37 7 89938625 89938625 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000389297.4:c.2599A>C p.Lys867Gln p.K867Q ENST00000389297 NM_001039706.2 867 Aaa/Caa 0 Missense_Mutation A 13 C7orf63 SNP 7 A C 89776561 89776561 Broad FAM133B 257415 broad.mit.edu GRCh37 7 92195341 92195341 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000445716.1:c.644G>A p.Arg215Gln p.R215Q ENST00000445716 NM_152789.2 215 cGa/cAa 0 Missense_Mutation C 31 FAM133B SNP 7 C T 92033277 92033277 Broad HEPACAM2 253012 broad.mit.edu GRCh37 7 92825177 92825177 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000394468.2:c.1239A>G p.Glu413= p.E413= ENST00000394468 NM_001039372.1 413 gaA/gaG 0 Silent T 52 HEPACAM2 SNP 7 T C 92663113 92663113 Broad GYG2 8908 broad.mit.edu GRCh37 X 2774571 2774571 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown x x x ENST00000381163.3:c.613A>T p.Arg205Trp p.R205W ENST00000381163 NM_001079855.1 205 Agg/Tgg 0 Missense_Mutation A 7 GYG2 SNP 23 A T 2784571 2784571 Broad TP53 7157 broad.mit.edu GRCh37 17 7573984 7573985 + stop_gained,frameshift_variant Nonsense_Mutation INS - - AGGCCTT novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.1042_1043insAAGGCCT p.Leu348Ter p.L348* ENST00000269305 NM_001126112.2 348 ttg/tAAGGCCTtg 0 Frame_Shift_Ins - 5 TP53 INS 17 - AGGCCTT 7514710 7514709 Broad TRPM4 54795 broad.mit.edu GRCh37 19 49686029 49686064 + inframe_deletion In_Frame_Del DEL CAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT CAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT - novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000252826.5:c.1459_1494del p.Lys487_Leu498del p.K487_L498del ENST00000252826 NM_017636.3 486 acCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCTc/acc 0 In_Frame_Del CAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT 21 TRPM4 DEL 19 - CAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT 54377876 54377841 Broad ASTN2 23245 broad.mit.edu GRCh37 9 119249758 119249767 + frameshift_variant Frame_Shift_Del DEL TCAGCAAAAC TCAGCAAAAC - novel Unknown TCGA-13-0751-01 TCGA-13-0751-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000361209.2:c.3215_3224del p.Ser1072MetfsTer12 p.S1072Mfs*12 ENST00000361209 NM_014010.4 1072 aGTTTTGCTGAt/at 0 Frame_Shift_Del TCAGCAAAAC 50 ASTN2 DEL 9 - TCAGCAAAAC 118289588 118289579 Broad IL32 9235 genome.wustl.edu GRCh37 16 3119303 3119303 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000525643.2:c.514G>C p.Asp172His p.D172H ENST00000525643 172 Gac/Cac 0 Missense_Mutation G 41 IL32 SNP 16 G C 3059304 3059304 WashU OR56B3P genome.wustl.edu GRCh37 11 6150274 6150274 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316517.2:c.435A>T p.Thr145= p.T145= ENST00000316517 145 acA/acT 0 Silent A 6 ENSG00000180913 SNP 11 A T 6106850 6106850 WashU KIAA0232 9778 genome.wustl.edu GRCh37 4 6862866 6862866 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307659.5:c.757A>T p.Asn253Tyr p.N253Y ENST00000307659 NM_014743.2 253 Aac/Tac 0 Missense_Mutation A 1 KIAA0232 SNP 4 A T 6913767 6913767 WashU PTPRM 5797 genome.wustl.edu GRCh37 18 7949198 7949198 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000580170.1:c.683C>T p.Ala228Val p.A228V ENST00000580170 NM_001105244.1 228 gCt/gTt 0 Missense_Mutation C 28 PTPRM SNP 18 C T 7939198 7939198 WashU FAM134B 54463 genome.wustl.edu GRCh37 5 16478974 16478974 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306320.9:c.793A>G p.Lys265Glu p.K265E ENST00000306320 NM_001034850.2 265 Aaa/Gaa 0 Missense_Mutation T 62 FAM134B SNP 5 T C 16531974 16531974 WashU C20orf26 26074 genome.wustl.edu GRCh37 20 20269566 20269566 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000245957.5:c.3110G>A p.Gly1037Glu p.G1037E ENST00000245957 NM_015585.3 1037 gGa/gAa 0 Missense_Mutation G 41 C20orf26 SNP 20 G A 20217566 20217566 WashU ZNF208 7757 genome.wustl.edu GRCh37 19 22155079 22155079 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397126.4:c.2757T>C p.Cys919= p.C919= ENST00000397126 NM_007153.3 919 tgT/tgC 0 Missense_Mutation A 6 ZNF208 SNP 19 A G 21946919 21946919 WashU SPATA6 54558 genome.wustl.edu GRCh37 1 48821392 48821392 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371847.3:c.1144C>T p.Arg382Trp p.R382W ENST00000371847 NM_019073.2 382 Cgg/Tgg 0 Missense_Mutation G 39 SPATA6 SNP 1 G A 48593979 48593979 WashU KDM5C 8242 genome.wustl.edu GRCh37 X 53230865 53230865 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375401.3:c.1928C>T p.Ser643Phe p.S643F ENST00000375401 NM_004187.3 643 tCc/tTc 0 Missense_Mutation G 41 KDM5C SNP 23 G A 53247590 53247590 WashU DST 667 genome.wustl.edu GRCh37 6 56329537 56329537 + intron_variant Intron SNP T T A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244364.6:c.14819-975A>T *4940* ENST00000244364 NM_015548.4 0 Nonsense_Mutation T 61 DST SNP 6 T A 56437496 56437496 WashU CDH26 60437 genome.wustl.edu GRCh37 20 58569457 58569457 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000348616.4:c.1579C>G p.Leu527Val p.L527V ENST00000348616 NM_177980.2 527 Ctg/Gtg 0 Missense_Mutation C 24 CDH26 SNP 20 G G 58002852 58002852 WashU PCDH20 64881 genome.wustl.edu GRCh37 13 61986811 61986811 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409186.1:c.1421C>T p.Pro474Leu p.P474L ENST00000409186 474 cCg/cTg 0 Missense_Mutation G 39 PCDH20 SNP 13 A A 60884812 60884812 WashU OPHN1 4983 genome.wustl.edu GRCh37 X 67283809 67283809 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355520.5:c.2045C>A p.Thr682Asn p.T682N ENST00000355520 NM_002547.2 682 aCc/aAc 0 Missense_Mutation G 44 OPHN1 SNP 23 T T 67200534 67200534 WashU PRDM14 63978 genome.wustl.edu GRCh37 8 70978519 70978519 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276594.2:c.1134G>T p.Val378= p.V378= ENST00000276594 NM_024504.3 378 gtG/gtT 0 Silent C 29 PRDM14 SNP 8 C A 71141073 71141073 WashU GDI2P2 100132353 genome.wustl.edu GRCh37 1 72740691 72740691 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000445131.2:n.457G>T *153* ENST00000445131 0 Nonsense_Mutation G 41 LOC100132353 SNP 1 G T 72513279 72513279 WashU PRKRIR 5612 genome.wustl.edu GRCh37 11 76062525 76062525 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260045.3:c.1669C>T p.Arg557Cys p.R557C ENST00000260045 NM_004705.2 557 Cgc/Tgc 0 Missense_Mutation G 39 PRKRIR SNP 11 G A 75740173 75740173 WashU DNAAF1 123872 genome.wustl.edu GRCh37 16 84188205 84188205 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378553.5:c.376G>C p.Glu126Gln p.E126Q ENST00000378553 NM_178452.4 126 Gaa/Caa 0 Missense_Mutation G 41 LRRC50 SNP 16 G C 82745706 82745706 WashU EEF1A1P29 genome.wustl.edu GRCh37 X 85415494 85415494 + non_coding_transcript_exon_variant RNA SNP T T G novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000416082.1:n.870A>C *290* ENST00000416082 0 Missense_Mutation T 62 LOC100130211 SNP 23 G G 85302150 85302150 WashU GRID1 2894 genome.wustl.edu GRCh37 10 87489325 87489325 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327946.7:c.1280A>T p.Glu427Val p.E427V ENST00000327946 NM_017551.2 427 gAg/gTg 0 Missense_Mutation T 54 GRID1 SNP 10 T A 87479305 87479305 WashU GAL3ST4 79690 genome.wustl.edu GRCh37 7 99757959 99757959 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360039.4:c.1053G>T p.Glu351Asp p.E351D ENST00000360039 NM_024637.4 351 gaG/gaT 0 Missense_Mutation C 24 GAL3ST4 SNP 7 C A 99595895 99595895 WashU GRIN3A 116443 genome.wustl.edu GRCh37 9 104432718 104432718 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361820.3:c.1976C>A p.Thr659Asn p.T659N ENST00000361820 NM_133445.2 659 aCc/aAc 0 Missense_Mutation G 44 GRIN3A SNP 9 G T 103472539 103472539 WashU RIMS2 9699 genome.wustl.edu GRCh37 8 104709458 104709458 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000406091.3:c.321C>T p.Asn107= p.N107= ENST00000406091 NM_001100117.2 107 aaC/aaT 0 Silent C 20 RIMS2 SNP 8 C T 104778634 104778634 WashU SNX19 399979 genome.wustl.edu GRCh37 11 130785599 130785599 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265909.4:c.236T>C p.Leu79Pro p.L79P ENST00000265909 NM_014758.2 79 cTg/cCg 0 Missense_Mutation A 7 SNX19 SNP 11 A G 130290809 130290809 WashU NTM 50863 genome.wustl.edu GRCh37 11 132016194 132016194 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000425719.2:c.186G>A p.Arg62= p.R62= ENST00000425719 62 cgG/cgA 0 Silent G 43 NTM SNP 11 G A 131521404 131521404 WashU MAP3K19 80122 genome.wustl.edu GRCh37 2 135756432 135756432 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375845.3:c.450G>C p.Arg150Ser p.R150S ENST00000375845 NM_025052.3 150 agG/agC 0 Missense_Mutation C 22 YSK4 SNP 2 C G 135472902 135472902 WashU SLITRK2 84631 genome.wustl.edu GRCh37 X 144905177 144905177 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370490.1:c.1234G>A p.Ala412Thr p.A412T ENST00000370490 412 Gca/Aca 0 Missense_Mutation G 46 SLITRK2 SNP 23 G A 144712869 144712869 WashU DRD5P2 1818 genome.wustl.edu GRCh37 1 148903435 148903435 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000421395.1:n.1732G>A *578* ENST00000421395 0 Missense_Mutation G 38 DRD5P2 SNP 1 G A 147170059 147170059 WashU POGZ 23126 genome.wustl.edu GRCh37 1 151378012 151378012 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271715.2:c.3499G>T p.Gly1167Cys p.G1167C ENST00000271715 NM_015100.3 1167 Ggc/Tgc 0 Missense_Mutation C 21 POGZ SNP 1 C A 149644636 149644636 WashU YEATS2 55689 genome.wustl.edu GRCh37 3 183493741 183493741 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000305135.5:c.2407G>A p.Ala803Thr p.A803T ENST00000305135 NM_018023.4 803 Gcc/Acc 0 Missense_Mutation G 46 YEATS2 SNP 3 G A 184976435 184976435 WashU FAT1 2195 genome.wustl.edu GRCh37 4 187628556 187628556 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000441802.2:c.2426A>G p.His809Arg p.H809R ENST00000441802 NM_005245.3 809 cAt/cGt 0 Missense_Mutation T 51 FAT1 SNP 4 T C 187865550 187865550 WashU MASP1 5648 genome.wustl.edu GRCh37 3 186953746 186953746 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296280.6:c.1913C>T p.Ser638Leu p.S638L ENST00000296280 NM_139125.3 638 tCg/tTg 0 Missense_Mutation G 37 MASP1 SNP 3 G A 188436440 188436440 WashU FMOD 2331 genome.wustl.edu GRCh37 1 203317073 203317073 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354955.4:c.326A>G p.Tyr109Cys p.Y109C ENST00000354955 NM_002023.4 109 tAt/tGt 0 Missense_Mutation T 49 FMOD SNP 1 T C 201583696 201583696 WashU GNPAT 8443 genome.wustl.edu GRCh37 1 231398535 231398536 + frameshift_variant Frame_Shift_Del DEL CT CT - novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 CT CT CT - CT CT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366647.4:c.506_507del p.Leu169HisfsTer10 p.L169Hfs*10 ENST00000366647 NM_014236.3 169 CTc/c 0 Frame_Shift_Del CT 24 GNPAT DEL 1 CT - 229465159 229465158 WashU VAX1 11023 genome.wustl.edu GRCh37 10 118895992 118895992 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369206.5:c.420C>T p.Ser140= p.S140= ENST00000369206 NM_001112704.1 140 tcC/tcT 0 Silent G 39 VAX1 SNP 10 G A 118885982 118885982 WashU MUC5B 727897 genome.wustl.edu GRCh37 11 1267258 1267258 + missense_variant Missense_Mutation SNP A A G Unknown TCGA-24-1549-01 TCGA-24-1549-10 A A A G A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000529681.1:c.9148A>G p.Thr3050Ala p.T3050A ENST00000529681 NM_002458.2 3050 Acc/Gcc 0 Missense_Mutation A 6 MUC5B SNP 11 A G 1223834 1223834 WashU MYOD1 4654 genome.wustl.edu GRCh37 11 17741443 17741443 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000250003.3:c.114G>T p.Pro38= p.P38= ENST00000250003 NM_002478.4 38 ccG/ccT 0 Silent G 39 MYOD1 SNP 11 T T 17698019 17698019 WashU OR51A7 119687 genome.wustl.edu GRCh37 11 4928842 4928842 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359350.4:c.243G>A p.Met81Ile p.M81I ENST00000359350 NM_001004749.1 81 atG/atA 0 Missense_Mutation G 48 OR51A7 SNP 11 G A 4885418 4885418 WashU IGHE 28223 genome.wustl.edu GRCh37 14 106067427 106067427 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390541.2:c.432T>A p.Thr144= p.T144= ENST00000390541 144 acT/acA 0 Missense_Mutation A 15 IGHE SNP 14 A T 105138472 105138472 WashU TBX6 6911 genome.wustl.edu GRCh37 16 30098101 30098101 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395224.2:c.911G>T p.Gly304Val p.G304V ENST00000395224 NM_004608.3 304 gGa/gTa 0 Missense_Mutation C 30 TBX6 SNP 16 C A 30005602 30005602 WashU EMR4P 326342 genome.wustl.edu GRCh37 19 6990796 6990796 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000600751.1:n.62T>C *21* ENST00000600751 0 Missense_Mutation A 9 EMR4P SNP 19 A G 6941796 6941796 WashU ZAN 7455 genome.wustl.edu GRCh37 7 100366320 100366320 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1549-01 TCGA-24-1549-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000546292.1:c.5129A>T p.Lys1710Met p.K1710M ENST00000546292 NM_173059.1 1710 aAg/aTg 0 Missense_Mutation A 3 ZAN SNP 7 A T 100204256 100204256 WashU AFMID 125061 hgsc.bcm.edu GRCh37 17 76198590 76198590 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000327898.5:c.165G>T p.Arg55Ser p.R55S ENST00000327898 55 agG/agT 0 Missense_Mutation G 43 AFMID SNP 17 G T 73710185 73710185 Baylor AGAP2 116986 hgsc.bcm.edu GRCh37 12 58124297 58124297 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000547588.1:c.2409G>A p.Leu803= p.L803= ENST00000547588 NM_001122772.2 803 ttG/ttA 0 Silent C 21 AGAP2 SNP 12 C T 56410564 56410564 Baylor ATP2A1 487 hgsc.bcm.edu GRCh37 16 28913193 28913193 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357084.3:c.2110G>T p.Gly704Cys p.G704C ENST00000357084 NM_173201.3 704 Ggc/Tgc 0 Missense_Mutation G 47 ATP2A1 SNP 16 G T 28820694 28820694 Baylor ATP5B 506 hgsc.bcm.edu GRCh37 12 57033004 57033004 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262030.3:c.1375A>C p.Lys459Gln p.K459Q ENST00000262030 NM_001686.3 459 Aaa/Caa 0 Missense_Mutation T 62 ATP5B SNP 12 T G 55319271 55319271 Baylor BCAS1 8537 hgsc.bcm.edu GRCh37 20 52644934 52644934 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000395961.3:c.720G>T p.Gly240= p.G240= ENST00000395961 NM_003657.2 240 ggG/ggT 0 Silent C 30 BCAS1 SNP 20 C A 52078341 52078341 Baylor TIMM21 29090 hgsc.bcm.edu GRCh37 18 71825446 71825446 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000169551.6:c.577G>A p.Val193Met p.V193M ENST00000169551 NM_014177.2 193 Gtg/Atg 0 Missense_Mutation G 48 C18orf55 SNP 18 G A 69976426 69976426 Baylor WDR83OS 51398 hgsc.bcm.edu GRCh37 19 12780179 12780179 + synonymous_variant Silent SNP G G A rs62108388 Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000596731.1:c.39C>T p.Asn13= p.N13= ENST00000596731 NM_016145.3 13 aaC/aaT 0 Silent G 48 C19orf56 SNP 19 G A 12641179 12641179 Baylor RRP36 88745 hgsc.bcm.edu GRCh37 6 42993025 42993025 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000244496.5:c.303C>G p.Ile101Met p.I101M ENST00000244496 NM_033112.2 101 atC/atG 0 Missense_Mutation C 30 RRP36 SNP 6 C G 43101003 43101003 Baylor FAM200A 221786 hgsc.bcm.edu GRCh37 7 99145624 99145624 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000449309.1:c.407C>G p.Ser136Cys p.S136C ENST00000449309 NM_145111.3 136 tCc/tGc 0 Missense_Mutation G 41 FAM200A SNP 7 G C 98983560 98983560 Baylor CARD6 84674 hgsc.bcm.edu GRCh37 5 40853323 40853323 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000254691.5:c.1889A>T p.Gln630Leu p.Q630L ENST00000254691 NM_032587.3 630 cAg/cTg 0 Missense_Mutation A 7 CARD6 SNP 5 A T 40889080 40889080 Baylor CATSPER1 117144 hgsc.bcm.edu GRCh37 11 65793480 65793480 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000312106.5:c.371G>T p.Arg124Met p.R124M ENST00000312106 NM_053054.3 124 aGg/aTg 0 Missense_Mutation C 24 CATSPER1 SNP 11 C A 65550056 65550056 Baylor CD44 960 hgsc.bcm.edu GRCh37 11 35218311 35218311 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000428726.2:c.686C>A p.Ala229Asp p.A229D ENST00000428726 NM_000610.3 229 gCt/gAt 0 Missense_Mutation C 28 CD44 SNP 11 C A 35174887 35174887 Baylor CREBBP 1387 hgsc.bcm.edu GRCh37 16 3819257 3819257 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262367.5:c.2978del p.Pro993LeufsTer5 p.P993Lfs*5 ENST00000262367 NM_004380.2 993 cCt/ct 0 Frame_Shift_Del G 35 CREBBP DEL 16 G - 3759258 3759258 Baylor CSNK2B 1460 hgsc.bcm.edu GRCh37 6 31637165 31637165 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000375880.2:c.437C>A p.Pro146His p.P146H ENST00000375880 146 cCc/cAc 0 Missense_Mutation C 22 CSNK2B SNP 6 C A 31745144 31745144 Baylor ECH1 1891 hgsc.bcm.edu GRCh37 19 39322015 39322015 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000221418.4:c.194A>T p.Lys65Ile p.K65I ENST00000221418 NM_001398.2 65 aAa/aTa 0 Missense_Mutation T 64 ECH1 SNP 19 T A 44013855 44013855 Baylor ERBB2 2064 hgsc.bcm.edu GRCh37 17 37881132 37881132 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269571.5:c.2461G>T p.Asp821Tyr p.D821Y ENST00000269571 821 Gac/Tac 0 Missense_Mutation G 41 ERBB2 SNP 17 G T 35134658 35134658 Baylor EXPH5 23086 hgsc.bcm.edu GRCh37 11 108380925 108380925 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000265843.4:c.5309T>A p.Leu1770Gln p.L1770Q ENST00000265843 NM_015065.2 1770 cTg/cAg 0 Missense_Mutation A 7 EXPH5 SNP 11 A T 107886135 107886135 Baylor FGF6 2251 hgsc.bcm.edu GRCh37 12 4553398 4553398 + synonymous_variant Silent SNP C C G novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000228837.2:c.351G>C p.Leu117= p.L117= ENST00000228837 NM_020996.1 117 ctG/ctC 0 Silent C 25 FGF6 SNP 12 C G 4423659 4423659 Baylor FRMPD4 9758 hgsc.bcm.edu GRCh37 X 12736568 12736568 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000380682.1:c.3623T>C p.Phe1208Ser p.F1208S ENST00000380682 NM_014728.3 1208 tTt/tCt 0 Missense_Mutation T 64 FRMPD4 SNP 23 T C 12646489 12646489 Baylor GPATCH3 63906 hgsc.bcm.edu GRCh37 1 27217658 27217658 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361720.5:c.1421T>A p.Leu474Ter p.L474* ENST00000361720 NM_022078.2 474 tTg/tAg 0 Nonsense_Mutation A 5 GPATCH3 SNP 1 A T 27090245 27090245 Baylor INO80 54617 hgsc.bcm.edu GRCh37 15 41379856 41379856 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361937.3:c.562G>A p.Ala188Thr p.A188T ENST00000361937 188 Gca/Aca 0 Missense_Mutation C 25 INO80 SNP 15 C T 39167148 39167148 Baylor KIAA1429 25962 hgsc.bcm.edu GRCh37 8 95508084 95508084 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000297591.5:c.4419G>A p.Leu1473= p.L1473= ENST00000297591 NM_015496.4 1473 ttG/ttA 0 Silent C 17 KIAA1429 SNP 8 C T 95577260 95577260 Baylor KRTAP19-4 337971 hgsc.bcm.edu GRCh37 21 31869270 31869270 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000334058.2:c.159C>T p.Cys53= p.C53= ENST00000334058 NM_181610.1 53 tgC/tgT 0 Silent G 34 KRTAP19-4 SNP 21 G A 30791141 30791141 Baylor MAP3K6 9064 hgsc.bcm.edu GRCh37 1 27686383 27686383 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000493901.1:c.2285T>A p.Leu762Ter p.L762* ENST00000493901 NM_004672.3 762 tTg/tAg 0 Nonsense_Mutation A 5 MAP3K6 SNP 1 A T 27558970 27558970 Baylor MOCOS 55034 hgsc.bcm.edu GRCh37 18 33831144 33831144 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261326.5:c.2062G>C p.Glu688Gln p.E688Q ENST00000261326 NM_017947.2 688 Gaa/Caa 0 Missense_Mutation G 33 MOCOS SNP 18 G C 32085142 32085142 Baylor MOCOS 55034 hgsc.bcm.edu GRCh37 18 33848514 33848514 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261326.5:c.2533C>G p.Leu845Val p.L845V ENST00000261326 NM_017947.2 845 Ctg/Gtg 0 Missense_Mutation C 24 MOCOS SNP 18 C G 32102512 32102512 Baylor MTOR 2475 hgsc.bcm.edu GRCh37 1 11272943 11272943 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361445.4:c.3308T>A p.Phe1103Tyr p.F1103Y ENST00000361445 NM_004958.3 1103 tTt/tAt 0 Missense_Mutation A 1 MTOR SNP 1 A T 11195530 11195530 Baylor NIN 51199 hgsc.bcm.edu GRCh37 14 51224167 51224167 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000382041.3:c.3581G>A p.Trp1194Ter p.W1194* ENST00000382041 NM_016350.4 1194 tGg/tAg 0 Nonsense_Mutation C 21 NIN SNP 14 C T 50293917 50293917 Baylor NXT2 55916 hgsc.bcm.edu GRCh37 X 108780235 108780235 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000218004.1:c.165G>T p.Gln55His p.Q55H ENST00000218004 NM_018698.4 55 caG/caT 0 Missense_Mutation G 33 NXT2 SNP 23 G T 108666891 108666891 Baylor OR2T34 127068 hgsc.bcm.edu GRCh37 1 248737595 248737595 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000328782.2:c.464T>C p.Val155Ala p.V155A ENST00000328782 NM_001001821.1 155 gTt/gCt 0 Missense_Mutation A 2 OR2T34 SNP 1 A G 246804218 246804218 Baylor OR56A4 120793 hgsc.bcm.edu GRCh37 11 6023870 6023870 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000330728.4:c.509T>A p.Phe170Tyr p.F170Y ENST00000330728 NM_001005179.2 170 tTc/tAc 0 Missense_Mutation A 9 OR56A4 SNP 11 A T 5980446 5980446 Baylor PGK1 5230 hgsc.bcm.edu GRCh37 X 77369313 77369313 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373316.4:c.190del p.Leu64Ter p.L64* ENST00000373316 NM_000291.3 63 caC/ca 0 Frame_Shift_Del C 18 PGK1 DEL 23 C - 77255969 77255969 Baylor PIGX 54965 hgsc.bcm.edu GRCh37 3 196454941 196454941 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000296333.5:c.466C>T p.His156Tyr p.H156Y ENST00000296333 NM_001166304.1 156 Cac/Tac 0 Missense_Mutation C 25 PIGX SNP 3 C T 197939338 197939338 Baylor PIK3C2B 5287 hgsc.bcm.edu GRCh37 1 204397328 204397328 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367187.3:c.4419C>G p.Phe1473Leu p.F1473L ENST00000367187 NM_002646.3 1473 ttC/ttG 0 Missense_Mutation G 33 PIK3C2B SNP 1 G C 202663951 202663951 Baylor POLR1C 9533 hgsc.bcm.edu GRCh37 6 43488991 43488991 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000372389.3:c.994A>C p.Lys332Gln p.K332Q ENST00000372389 NM_203290.2 332 Aag/Cag 0 Missense_Mutation A 9 POLR1C SNP 6 A C 43596969 43596969 Baylor POLR3A 11128 hgsc.bcm.edu GRCh37 10 79777462 79777462 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000372371.3:c.1302C>T p.Tyr434= p.Y434= ENST00000372371 NM_007055.3 434 taC/taT 0 Silent G 40 POLR3A SNP 10 G A 79447468 79447468 Baylor PPOX 5498 hgsc.bcm.edu GRCh37 1 161137880 161137880 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367999.4:c.434C>T p.Thr145Ile p.T145I ENST00000367999 NM_001122764.1 145 aCt/aTt 0 Missense_Mutation C 20 PPOX SNP 1 C T 159404504 159404504 Baylor TMPRSS15 5651 hgsc.bcm.edu GRCh37 21 19698878 19698878 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000284885.3:c.1792G>T p.Gly598Trp p.G598W ENST00000284885 NM_002772.2 598 Ggg/Tgg 0 Missense_Mutation C 24 TMPRSS15 SNP 21 C A 18620749 18620749 Baylor PTPN3 5774 hgsc.bcm.edu GRCh37 9 112151594 112151594 + synonymous_variant Silent SNP G G C novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000374541.2:c.2172C>G p.Thr724= p.T724= ENST00000374541 NM_001145368.1 724 acC/acG 0 Silent G 35 PTPN3 SNP 9 G C 111191415 111191415 Baylor QRICH1 54870 hgsc.bcm.edu GRCh37 3 49095139 49095139 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000395443.2:c.494A>T p.Gln165Leu p.Q165L ENST00000395443 NM_198880.1 165 cAa/cTa 0 Missense_Mutation T 63 QRICH1 SNP 3 T A 49070143 49070143 Baylor SCN2A 6326 hgsc.bcm.edu GRCh37 2 166170618 166170618 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357398.3:c.1383G>A p.Gln461= p.Q461= ENST00000357398 461 caG/caA 0 Silent G 35 SCN2A SNP 2 G A 165878864 165878864 Baylor SERPINH1 871 hgsc.bcm.edu GRCh37 11 75282994 75282994 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000524558.1:c.1123G>T p.Glu375Ter p.E375* ENST00000524558 375 Gag/Tag 0 Nonsense_Mutation G 41 SERPINH1 SNP 11 G T 74960642 74960642 Baylor SETDB1 9869 hgsc.bcm.edu GRCh37 1 150916431 150916431 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000271640.5:c.911A>G p.Tyr304Cys p.Y304C ENST00000271640 NM_001145415.1 304 tAt/tGt 0 Missense_Mutation A 16 SETDB1 SNP 1 A G 149183055 149183055 Baylor SIPA1L1 26037 hgsc.bcm.edu GRCh37 14 72055760 72055760 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000555818.1:c.1171G>A p.Asp391Asn p.D391N ENST00000555818 NM_015556.1 391 Gac/Aac 0 Missense_Mutation G 41 SIPA1L1 SNP 14 G A 71125513 71125513 Baylor SLC16A7 9194 hgsc.bcm.edu GRCh37 12 60165110 60165110 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261187.4:c.328G>A p.Val110Ile p.V110I ENST00000261187 NM_004731.4 110 Gta/Ata 0 Missense_Mutation G 44 SLC16A7 SNP 12 G A 58451377 58451377 Baylor SLIT3 6586 hgsc.bcm.edu GRCh37 5 168138034 168138034 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000519560.1:c.2585A>T p.Asp862Val p.D862V ENST00000519560 NM_003062.3 862 gAc/gTc 0 Missense_Mutation T 58 SLIT3 SNP 5 T A 168070612 168070612 Baylor SRC 6714 hgsc.bcm.edu GRCh37 20 36030940 36030940 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358208.4:c.1219G>C p.Asp407His p.D407H ENST00000358208 407 Gac/Cac 0 Missense_Mutation G 41 SRC SNP 20 G C 35464354 35464354 Baylor TBX4 9496 hgsc.bcm.edu GRCh37 17 59560462 59560462 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000240335.1:c.1223A>G p.Asp408Gly p.D408G ENST00000240335 NM_018488.2 408 gAc/gGc 0 Missense_Mutation A 10 TBX4 SNP 17 A G 56915244 56915244 Baylor TMEM44 93109 hgsc.bcm.edu GRCh37 3 194309318 194309318 + synonymous_variant Silent SNP T T A novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000392432.2:c.1368A>T p.Leu456= p.L456= ENST00000392432 NM_001166305.1 456 ctA/ctT 0 Silent T 57 TMEM44 SNP 3 T A 195790607 195790607 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577093 7577093 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.846del p.Arg283AlafsTer62 p.R283Afs*62 ENST00000269305 NM_001126112.2 282 cGg/cg 0 Indel C- 23 TP53 Indel 17 C- G 7517819 7517818 Baylor TRIM35 23087 hgsc.bcm.edu GRCh37 8 27156041 27156041 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000305364.4:c.471G>T p.Glu157Asp p.E157D ENST00000305364 NM_171982.3 157 gaG/gaT 0 Missense_Mutation C 32 TRIM35 SNP 8 C A 27211958 27211958 Baylor TRIM42 287015 hgsc.bcm.edu GRCh37 3 140409814 140409814 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000286349.3:c.1865A>C p.Tyr622Ser p.Y622S ENST00000286349 NM_152616.4 622 tAc/tCc 0 Missense_Mutation A 14 TRIM42 SNP 3 A C 141892504 141892504 Baylor VPS4B 9525 hgsc.bcm.edu GRCh37 18 61067845 61067845 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000238497.5:c.576C>G p.Asn192Lys p.N192K ENST00000238497 NM_004869.3 192 aaC/aaG 0 Missense_Mutation G 48 VPS4B SNP 18 G C 59218825 59218825 Baylor WDR62 284403 hgsc.bcm.edu GRCh37 19 36575625 36575625 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000401500.2:c.1621G>T p.Glu541Ter p.E541* ENST00000401500 NM_001083961.1 541 Gag/Tag 0 Nonsense_Mutation G 41 WDR62 SNP 19 G T 41267465 41267465 Baylor ZNF565 147929 hgsc.bcm.edu GRCh37 19 36674259 36674259 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1525-01 TCGA-04-1525-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000392173.2:c.609C>A p.Ala203= p.A203= ENST00000392173 NM_001042474.1 203 gcC/gcA 0 Silent G 35 ZNF565 SNP 19 G T 41366099 41366099 Baylor SERPINF1 5176 genome.wustl.edu GRCh37 17 1674326 1674326 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000254722.4:c.287C>T p.Ala96Val p.A96V ENST00000254722 NM_002615.5 96 gCg/gTg 0 Missense_Mutation C 27 SERPINF1 SNP 17 C T 1621076 1621076 WashU RANBP6 26953 genome.wustl.edu GRCh37 9 6014609 6014609 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000259569.5:c.999T>C p.Asp333= p.D333= ENST00000259569 NM_012416.3 333 gaT/gaC 0 Silent A 8 RANBP6 SNP 9 A G 6004609 6004609 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578388 7578388 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.542G>C p.Arg181Pro p.R181P ENST00000269305 NM_001126112.2 181 cGc/cCc 0 Missense_Mutation C 27 TP53 SNP 17 C G 7519113 7519113 WashU DNAH11 8701 genome.wustl.edu GRCh37 7 21847510 21847510 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328843.6:c.10196G>A p.Arg3399His p.R3399H ENST00000328843 3399 cGc/cAc 0 Missense_Mutation G 38 DNAH11 SNP 7 G A 21814035 21814035 WashU EPHB2 2048 genome.wustl.edu GRCh37 1 23191679 23191679 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374632.3:c.1277C>G p.Ser426Cys p.S426C ENST00000374632 426 tCt/tGt 0 Missense_Mutation C 32 EPHB2 SNP 1 C G 23064266 23064266 WashU FRY 10129 genome.wustl.edu GRCh37 13 32835643 32835643 + intron_variant Intron SNP A A G novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380250.3:c.7417-110A>G *2473* ENST00000380250 NM_023037.2 0 Silent A 13 FRY SNP 13 A G 31733643 31733643 WashU PSTPIP2 9050 genome.wustl.edu GRCh37 18 43578790 43578790 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409746.5:c.532G>A p.Ala178Thr p.A178T ENST00000409746 NM_024430.3 178 Gca/Aca 0 Missense_Mutation C 26 PSTPIP2 SNP 18 C T 41832788 41832788 WashU WDR87 83889 genome.wustl.edu GRCh37 19 38383767 38383767 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 T T G G G G Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303868.5:c.2459A>C p.Gln820Pro p.Q820P ENST00000303868 NM_031951.3 820 cAa/cCa 0 Missense_Mutation T 63 WDR87 SNP 19 G G 43075607 43075607 WashU PORCN 64840 genome.wustl.edu GRCh37 X 48369686 48369686 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326194.6:c.140T>G p.Leu47Trp p.L47W ENST00000326194 NM_203475.1 47 tTg/tGg 0 Missense_Mutation T 63 PORCN SNP 23 T G 48254630 48254630 WashU RELB 5971 genome.wustl.edu GRCh37 19 45537526 45537526 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000221452.8:c.1232G>A p.Arg411Gln p.R411Q ENST00000221452 NM_006509.3 411 cGg/cAg 0 Missense_Mutation G 39 RELB SNP 19 G A 50229366 50229366 WashU ERCC6 2074 genome.wustl.edu GRCh37 10 50708600 50708600 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355832.5:c.1669C>G p.Arg557Gly p.R557G ENST00000355832 NM_000124.3 557 Cgt/Ggt 0 Missense_Mutation G 37 ERCC6 SNP 10 G C 50378606 50378606 WashU RSPH6A 81492 genome.wustl.edu GRCh37 19 46303754 46303754 + synonymous_variant Silent SNP G G C novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000221538.3:c.1866C>G p.Ala622= p.A622= ENST00000221538 NM_030785.3 622 gcC/gcG 0 Silent G 39 RSPH6A SNP 19 G C 50995594 50995594 WashU B3GNT2 10678 genome.wustl.edu GRCh37 2 62449866 62449866 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000301998.4:c.511G>A p.Ala171Thr p.A171T ENST00000301998 NM_006577.5 171 Gca/Aca 0 Missense_Mutation G 38 B3GNT2 SNP 2 G A 62303370 62303370 WashU ADAMTS14 140766 genome.wustl.edu GRCh37 10 72520231 72520231 + synonymous_variant Silent SNP G G C novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000373208.1:c.3303G>C p.Ser1101= p.S1101= ENST00000373208 NM_139155.2 1101 tcG/tcC 0 Silent G 39 ADAMTS14 SNP 10 G C 72190237 72190237 WashU PAPLN 89932 genome.wustl.edu GRCh37 14 73717706 73717706 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340738.5:c.557C>A p.Ala186Glu p.A186E ENST00000340738 NM_173462.3 186 gCa/gAa 0 Missense_Mutation C 25 PAPLN SNP 14 C A 72787459 72787459 WashU TTC18 118491 genome.wustl.edu GRCh37 10 75113461 75113461 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310715.3:c.103G>T p.Ala35Ser p.A35S ENST00000310715 NM_145170.3 35 Gca/Tca 0 Missense_Mutation C 28 TTC18 SNP 10 C A 74783467 74783467 WashU AP3B2 8120 genome.wustl.edu GRCh37 15 83331586 83331586 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261722.3:c.2636G>A p.Arg879His p.R879H ENST00000261722 NM_004644.4 879 cGc/cAc 0 Missense_Mutation C 27 AP3B2 SNP 15 C T 81128641 81128641 WashU PMPCB 9512 genome.wustl.edu GRCh37 7 102948090 102948090 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000249269.4:c.784G>C p.Asp262His p.D262H ENST00000249269 NM_004279.2 262 Gac/Cac 0 Missense_Mutation G 45 PMPCB SNP 7 G C 102735326 102735326 WashU CENPE 1062 genome.wustl.edu GRCh37 4 104055002 104055002 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265148.3:c.6570C>T p.Ser2190= p.S2190= ENST00000265148 NM_001813.2 2190 tcC/tcT 0 Silent G 47 CENPE SNP 4 G A 104274451 104274451 WashU AP4B1 10717 genome.wustl.edu GRCh37 1 114442771 114442771 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369569.1:c.869G>A p.Arg290His p.R290H ENST00000369569 NM_001253852.1 290 cGt/cAt 0 Missense_Mutation C 19 AP4B1 SNP 1 C T 114244294 114244294 WashU GPRC6A 222545 genome.wustl.edu GRCh37 6 117113364 117113364 + synonymous_variant Silent SNP T T G novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310357.3:c.2722A>C p.Arg908= p.R908= ENST00000310357 NM_148963.2 908 Agg/Cgg 0 Silent T 55 GPRC6A SNP 6 T G 117220057 117220057 WashU TUBB4BP6 442434 genome.wustl.edu GRCh37 9 121526217 121526217 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000437576.2:n.73G>C *25* ENST00000437576 0 Missense_Mutation G 42 LOC442434 SNP 9 G C 120566038 120566038 WashU OR10G7 390265 genome.wustl.edu GRCh37 11 123909234 123909234 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330487.5:c.475A>G p.Thr159Ala p.T159A ENST00000330487 NM_001004463.1 159 Acc/Gcc 0 Missense_Mutation T 58 OR10G7 SNP 11 T C 123414444 123414444 WashU TPK1 27010 genome.wustl.edu GRCh37 7 144288554 144288554 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360057.3:c.463A>G p.Ile155Val p.I155V ENST00000360057 NM_022445.3 155 Ata/Gta 0 Missense_Mutation T 52 TPK1 SNP 7 T C 143919487 143919487 WashU HPS3 84343 genome.wustl.edu GRCh37 3 148877851 148877851 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296051.2:c.1891G>T p.Val631Phe p.V631F ENST00000296051 NM_032383.3 631 Gtt/Ttt 0 Missense_Mutation G 44 HPS3 SNP 3 G T 150360541 150360541 WashU LELP1 149018 genome.wustl.edu GRCh37 1 153177462 153177462 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368747.1:c.279C>T p.Pro93= p.P93= ENST00000368747 NM_001010857.2 93 ccC/ccT 0 Silent C 24 LELP1 SNP 1 C T 151444086 151444086 WashU IL6R 3570 genome.wustl.edu GRCh37 1 154407116 154407116 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368485.3:c.580G>A p.Val194Ile p.V194I ENST00000368485 NM_000565.3 194 Gtc/Atc 0 Missense_Mutation G 40 IL6R SNP 1 G A 152673740 152673740 WashU TTN 7273 genome.wustl.edu GRCh37 2 179437666 179437666 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.73193G>A p.Arg24398His p.R24398H ENST00000589042 NM_001267550.1 24398 cGc/cAc 0 Missense_Mutation C 27 TTN SNP 2 C T 179145912 179145912 WashU TTN 7273 genome.wustl.edu GRCh37 2 179477126 179477126 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.50126A>G p.Lys16709Arg p.K16709R ENST00000589042 NM_001267550.1 16709 aAg/aGg 0 Missense_Mutation T 56 TTN SNP 2 T C 179185371 179185371 WashU MAP3K13 9175 genome.wustl.edu GRCh37 3 185184670 185184670 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265026.3:c.1562G>A p.Arg521His p.R521H ENST00000265026 NM_004721.4 521 cGt/cAt 0 Missense_Mutation G 40 MAP3K13 SNP 3 G A 186667364 186667364 WashU NCL 4691 genome.wustl.edu GRCh37 2 232320317 232320317 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000322723.4:c.1851C>T p.Phe617= p.F617= ENST00000322723 NM_005381.2 617 ttC/ttT 0 Silent G 45 NCL SNP 2 G A 232028561 232028561 WashU UGT1A9 54600 genome.wustl.edu GRCh37 2 234581345 234581345 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354728.4:c.765G>A p.Thr255= p.T255= ENST00000354728 255 acG/acA 0 Silent G 39 UGT1A9 SNP 2 G A 234246084 234246084 WashU TCHH 7062 genome.wustl.edu GRCh37 1 152081608 152081608 + missense_variant Missense_Mutation SNP A A T Unknown TCGA-04-1332-01 TCGA-04-1332-10 A A A T A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000368804.1:c.4085T>A p.Phe1362Tyr p.F1362Y ENST00000368804 NM_007113.3 1362 tTc/tAc 0 Missense_Mutation A 9 TCHH SNP 1 A T 150348232 150348232 WashU KCNT1 57582 genome.wustl.edu GRCh37 9 138642853 138642853 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01 TCGA-04-1332-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371757.2:c.400G>A p.Val134Ile p.V134I ENST00000371757 NM_020822.2 134 Gtc/Atc 0 Missense_Mutation G 40 KCNT1 SNP 9 G A 137782674 137782674 WashU WASHC1 100287171 genome.wustl.edu GRCh37 9 14863 14863 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000442898.2:n.1485T>C *495* ENST00000442898 0 Silent A 1 WASH1 SNP 9 A G 4863 4863 WashU BTBD2 55643 genome.wustl.edu GRCh37 19 1997416 1997416 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 C C T T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000255608.4:c.454G>A p.Gly152Arg p.G152R ENST00000255608 NM_017797.3 152 Ggg/Agg 0 Missense_Mutation C 23 BTBD2 SNP 19 T T 1948416 1948416 WashU GLIS3 169792 genome.wustl.edu GRCh37 9 3856099 3856099 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381971.3:c.2383C>G p.Pro795Ala p.P795A ENST00000381971 NM_001042413.1 795 Ccc/Gcc 0 Missense_Mutation G 41 GLIS3 SNP 9 G C 3846099 3846099 WashU FAM160A2 84067 genome.wustl.edu GRCh37 11 6239044 6239044 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000265978.4:c.1814G>A p.Arg605Gln p.R605Q ENST00000265978 NM_032127.3 605 cGg/cAg 0 Missense_Mutation C 23 FAM160A2 SNP 11 C T 6195620 6195620 WashU PIEZO2 63895 genome.wustl.edu GRCh37 18 10691284 10691284 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000503781.3:c.6949C>T p.Arg2317Ter p.R2317* ENST00000503781 NM_022068.2 2317 Cga/Tga 0 Nonsense_Mutation G 38 FAM38B SNP 18 A A 10681284 10681284 WashU CDKN1B 1027 genome.wustl.edu GRCh37 12 12871205 12871205 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000228872.4:c.432A>G p.Leu144= p.L144= ENST00000228872 NM_004064.3 144 ttA/ttG 0 Silent A 15 CDKN1B SNP 12 A G 12762472 12762472 WashU BTN1A1 696 genome.wustl.edu GRCh37 6 26502054 26502054 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244513.6:c.316C>A p.Arg106Ser p.R106S ENST00000244513 NM_001732.2 106 Cgc/Agc 0 Missense_Mutation C 27 BTN1A1 SNP 6 C A 26610033 26610033 WashU OVCH1 341350 genome.wustl.edu GRCh37 12 29597205 29597205 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318184.5:c.2890G>A p.Asp964Asn p.D964N ENST00000318184 NM_183378.2 964 Gac/Aac 0 Missense_Mutation C 30 OVCH1 SNP 12 C T 29488472 29488472 WashU GPR179 440435 genome.wustl.edu GRCh37 17 36484432 36484432 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342292.4:c.5020C>T p.Leu1674Phe p.L1674F ENST00000342292 NM_001004334.2 1674 Ctt/Ttt 0 Missense_Mutation G 35 GPR179 SNP 17 G A 33737958 33737958 WashU ANKRD27 84079 genome.wustl.edu GRCh37 19 33096796 33096796 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306065.4:c.2438C>T p.Pro813Leu p.P813L ENST00000306065 NM_032139.2 813 cCc/cTc 0 Missense_Mutation G 43 ANKRD27 SNP 19 G A 37788636 37788636 WashU CTIF 9811 genome.wustl.edu GRCh37 18 46284504 46284504 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382998.4:c.799G>A p.Ala267Thr p.A267T ENST00000382998 NM_001142397.1 267 Gca/Aca 0 Missense_Mutation G 38 KIAA0427 SNP 18 A A 44538502 44538502 WashU ABCA13 154664 genome.wustl.edu GRCh37 7 48318317 48318317 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000435803.1:c.7526G>T p.Ser2509Ile p.S2509I ENST00000435803 NM_152701.3 2509 aGt/aTt 0 Missense_Mutation G 36 ABCA13 SNP 7 G T 48288863 48288863 WashU PPP1R3F 89801 genome.wustl.edu GRCh37 X 49143088 49143088 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000055335.6:c.1936A>T p.Met646Leu p.M646L ENST00000055335 NM_033215.4 646 Atg/Ttg 0 Missense_Mutation A 12 PPP1R3F SNP 23 A T 49030032 49030032 WashU TFAP2D 83741 genome.wustl.edu GRCh37 6 50682841 50682841 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000008391.3:c.52G>A p.Gly18Arg p.G18R ENST00000008391 NM_172238.3 18 Gga/Aga 0 Missense_Mutation G 39 TFAP2D SNP 6 G A 50790800 50790800 WashU COPS8P2 genome.wustl.edu GRCh37 3 68194271 68194271 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000473228.1:n.118C>T *40* ENST00000473228 0 Missense_Mutation C 27 ENSG00000214552 SNP 3 C T 68276961 68276961 WashU LHX8 431707 genome.wustl.edu GRCh37 1 75608823 75608823 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294638.5:c.410C>T p.Ser137Phe p.S137F ENST00000294638 NM_001001933.1 137 tCt/tTt 0 Missense_Mutation C 32 LHX8 SNP 1 C T 75381411 75381411 WashU ALPK3 57538 genome.wustl.edu GRCh37 15 85400502 85400502 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258888.5:c.3139G>C p.Gly1047Arg p.G1047R ENST00000258888 NM_020778.4 1047 Ggg/Cgg 0 Missense_Mutation G 35 ALPK3 SNP 15 G C 83201506 83201506 WashU RASSF9 9182 genome.wustl.edu GRCh37 12 86199045 86199045 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361228.3:c.743A>T p.Asp248Val p.D248V ENST00000361228 NM_005447.3 248 gAc/gTc 0 Missense_Mutation T 58 RASSF9 SNP 12 T A 84723176 84723176 WashU SYTL2 54843 genome.wustl.edu GRCh37 11 85436342 85436342 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354566.3:c.1158G>A p.Ser386= p.S386= ENST00000354566 NM_206927.2 386 tcG/tcA 0 Silent C 23 SYTL2 SNP 11 C T 85113990 85113990 WashU SSH1 54434 genome.wustl.edu GRCh37 12 109198956 109198956 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326495.5:c.830G>A p.Arg277His p.R277H ENST00000326495 NM_018984.3 277 cGt/cAt 0 Missense_Mutation C 19 SSH1 SNP 12 C T 107723085 107723085 WashU ATP4B 496 genome.wustl.edu GRCh37 13 114307239 114307239 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335288.4:c.504C>G p.Pro168= p.P168= ENST00000335288 NM_000705.3 168 ccC/ccG 0 Silent G 47 ATP4B SNP 13 G C 113355240 113355240 WashU LRIG2 9860 genome.wustl.edu GRCh37 1 113641326 113641326 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361127.5:c.1092-1G>A p.X364_splice ENST00000361127 NM_014813.1 0 Splice_Site_SNP G 33 LRIG2 SNP 1 G A 113442849 113442849 WashU BCL2L15 440603 genome.wustl.edu GRCh37 1 114429215 114429215 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393316.3:c.193A>C p.Asn65His p.N65H ENST00000393316 NM_001010922.2 65 Aac/Cac 0 Missense_Mutation T 63 BCL2L15 SNP 1 T G 114230738 114230738 WashU IGSF3 3321 genome.wustl.edu GRCh37 1 117122285 117122285 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 G G G C G C Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369483.1:c.3123C>G p.Asp1041Glu p.D1041E ENST00000369483 NM_001542.3 1041 gaC/gaG 0 Missense_Mutation G 40 IGSF3 SNP 1 G C 116923808 116923808 WashU IGSF3 3321 genome.wustl.edu GRCh37 1 117131694 117131694 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369483.1:c.2122A>G p.Thr708Ala p.T708A ENST00000369483 NM_001542.3 708 Acc/Gcc 0 Missense_Mutation T 58 IGSF3 SNP 1 T C 116933217 116933217 WashU TMEM132B 114795 genome.wustl.edu GRCh37 12 126135439 126135439 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299308.3:c.1839C>T p.Ile613= p.I613= ENST00000299308 NM_052907.2 613 atC/atT 0 Silent C 31 TMEM132B SNP 12 C T 124701392 124701392 WashU PABPC1P2 728773 genome.wustl.edu GRCh37 2 147345777 147345777 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000471997.1:n.704T>C *235* ENST00000471997 0 Silent T 50 PABPC1P2 SNP 2 T C 147062247 147062247 WashU CD99L2 83692 genome.wustl.edu GRCh37 X 149938798 149938798 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1506-01 TCGA-13-1506-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370377.3:c.700G>A p.Val234Met p.V234M ENST00000370377 NM_031462.3 234 Gtg/Atg 0 Missense_Mutation C 19 CD99L2 SNP 23 C T 149689456 149689456 WashU S1PR1 1901 broad.mit.edu GRCh37 1 101705330 101705330 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000305352.6:c.790G>A p.Val264Ile p.V264I ENST00000305352 NM_001400.4 264 Gtc/Atc 0 Missense_Mutation G 40 S1PR1 SNP 1 G A 101477918 101477918 Broad SPRR2A 6700 broad.mit.edu GRCh37 1 153028999 153028999 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000392653.2:c.213C>A p.Ser71Arg p.S71R ENST00000392653 NM_005988.2 71 agC/agA 0 Missense_Mutation G 46 SPRR2A SNP 1 G T 151295623 151295623 Broad LGR6 59352 broad.mit.edu GRCh37 1 202275996 202275996 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000367278.3:c.1137C>T p.Ile379= p.I379= ENST00000367278 NM_001017403.1 379 atC/atT 0 Silent C 27 LGR6 SNP 1 C T 200542619 200542619 Broad SYT2 127833 broad.mit.edu GRCh37 1 202571549 202571549 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000367267.1:c.590G>A p.Arg197Gln p.R197Q ENST00000367267 NM_001136504.1 197 cGg/cAg 0 Missense_Mutation C 23 SYT2 SNP 1 C T 200838172 200838172 Broad FMN2 56776 broad.mit.edu GRCh37 1 240371922 240371922 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000319653.9:c.3810C>A p.Gly1270= p.G1270= ENST00000319653 NM_020066.4 1270 ggC/ggA 0 Silent C 28 FMN2 SNP 1 C A 238438545 238438545 Broad ZMIZ1 57178 broad.mit.edu GRCh37 10 81052045 81052045 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000334512.5:c.889G>A p.Ala297Thr p.A297T ENST00000334512 NM_020338.3 297 Gcc/Acc 0 Missense_Mutation G 34 ZMIZ1 SNP 10 G A 80722051 80722051 Broad LRIT2 340745 broad.mit.edu GRCh37 10 85981799 85981799 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000372113.4:c.1530C>T p.Thr510= p.T510= ENST00000372113 NM_001017924.2 510 acC/acT 0 Silent G 43 LRIT2 SNP 10 G A 85971779 85971779 Broad SF1 7536 broad.mit.edu GRCh37 11 64537020 64537020 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000377387.1:c.916G>A p.Gly306Arg p.G306R ENST00000377387 NM_001178030.1 306 Ggg/Agg 0 Missense_Mutation C 24 SF1 SNP 11 C T 64293596 64293596 Broad CACNA1C 775 broad.mit.edu GRCh37 12 2716201 2716201 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000347598.4:c.3321A>T p.Gln1107His p.Q1107H ENST00000347598 NM_199460.2 1107 caA/caT 0 Missense_Mutation A 2 CACNA1C SNP 12 A T 2586462 2586462 Broad SPTLC2 9517 broad.mit.edu GRCh37 14 77987880 77987880 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000216484.2:c.1348A>C p.Arg450= p.R450= ENST00000216484 NM_004863.3 450 Agg/Cgg 0 Silent T 55 SPTLC2 SNP 14 T G 77057633 77057633 Broad NRXN3 9369 broad.mit.edu GRCh37 14 80130238 80130238 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000554719.1:c.2443G>A p.Gly815Ser p.G815S ENST00000554719 NM_004796.5 815 Ggc/Agc 0 Missense_Mutation G 39 NRXN3 SNP 14 G A 79199991 79199991 Broad DIO3 1735 broad.mit.edu GRCh37 14 102028204 102028204 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000510508.4:c.371A>T p.Asp124Val p.D124V ENST00000510508 124 gAt/gTt 0 Missense_Mutation A 12 DIO3 SNP 14 A T 101097957 101097957 Broad CSPG4 1464 broad.mit.edu GRCh37 15 75979817 75979817 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000308508.5:c.3589G>A p.Val1197Ile p.V1197I ENST00000308508 NM_001897.4 1197 Gtt/Att 0 Missense_Mutation C 19 CSPG4 SNP 15 C T 73766872 73766872 Broad ADCY9 115 broad.mit.edu GRCh37 16 4042224 4042224 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000294016.3:c.2130G>A p.Ser710= p.S710= ENST00000294016 NM_001116.3 710 tcG/tcA 0 Silent C 23 ADCY9 SNP 16 C T 3982225 3982225 Broad GP2 2813 broad.mit.edu GRCh37 16 20335393 20335393 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000381362.4:c.280C>A p.Arg94Ser p.R94S ENST00000381362 NM_001007240.1 94 Cgc/Agc 0 Missense_Mutation G 39 GP2 SNP 16 G T 20242894 20242894 Broad TP53 7157 broad.mit.edu GRCh37 17 7578442 7578442 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.488A>G p.Tyr163Cys p.Y163C ENST00000269305 NM_001126112.2 163 tAc/tGc 0 Missense_Mutation T 57 TP53 SNP 17 T C 7519167 7519167 Broad KRT33A 3883 broad.mit.edu GRCh37 17 39503197 39503198 + missense_variant Missense_Mutation DNP CC CC AG novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000007735.3:c.774_775delinsCT p.Val259Leu p.V259L ENST00000007735 NM_004138.3 258 gtGGta/gtCTta 0 Missense_Mutation CC 18 KRT33A DNP 17 CC AG 36756724 36756723 Broad HSF5 124535 broad.mit.edu GRCh37 17 56557477 56557477 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000323777.3:c.702C>T p.Ser234= p.S234= ENST00000323777 NM_001080439.1 234 tcC/tcT 0 Silent G 43 HSF5 SNP 17 G A 53912476 53912476 Broad JMJD6 23210 broad.mit.edu GRCh37 17 74721882 74721882 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000445478.2:c.185G>T p.Arg62Leu p.R62L ENST00000445478 NM_001081461.1 62 cGg/cTg 0 Missense_Mutation C 23 JMJD6 SNP 17 C A 72233477 72233477 Broad ASXL3 80816 broad.mit.edu GRCh37 18 31318455 31318455 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000269197.5:c.1087G>A p.Gly363Ser p.G363S ENST00000269197 NM_030632.1 363 Ggc/Agc 0 Missense_Mutation G 43 ASXL3 SNP 18 G A 29572453 29572453 Broad RAVER1 125950 broad.mit.edu GRCh37 19 10434238 10434238 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000293677.6:c.812C>T p.Ala271Val p.A271V ENST00000293677 NM_133452.2 271 gCg/gTg 0 Missense_Mutation G 38 RAVER1 SNP 19 G A 10295238 10295238 Broad PTPRH 5794 broad.mit.edu GRCh37 19 55710054 55710054 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000376350.3:c.1647G>A p.Arg549= p.R549= ENST00000376350 NM_002842.3 549 agG/agA 0 Silent C 30 PTPRH SNP 19 C T 60401866 60401866 Broad COMMD1 150684 broad.mit.edu GRCh37 2 62132989 62132989 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000311832.5:c.176T>A p.Leu59His p.L59H ENST00000311832 NM_152516.2 59 cTt/cAt 0 Missense_Mutation T 56 COMMD1 SNP 2 T A 61986493 61986493 Broad SAP130 79595 broad.mit.edu GRCh37 2 128712911 128712911 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000357702.5:c.2149C>A p.Pro717Thr p.P717T ENST00000357702 NM_001145928.1 717 Ccc/Acc 0 Missense_Mutation G 44 SAP130 SNP 2 G T 128429381 128429381 Broad ARHGEF4 50649 broad.mit.edu GRCh37 2 131785558 131785558 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000326016.5:c.468C>T p.Asp156= p.D156= ENST00000326016 NM_015320.3 156 gaC/gaT 0 Silent C 19 ARHGEF4 SNP 2 C T 131502028 131502028 Broad DOCK10 55619 broad.mit.edu GRCh37 2 225639745 225639745 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000258390.7:c.5890C>T p.Arg1964Trp p.R1964W ENST00000258390 NM_014689.2 1964 Cgg/Tgg 0 Missense_Mutation G 39 DOCK10 SNP 2 G A 225347989 225347989 Broad NGEF 25791 broad.mit.edu GRCh37 2 233752756 233752756 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000264051.3:c.1334A>G p.Lys445Arg p.K445R ENST00000264051 NM_019850.2 445 aAg/aGg 0 Missense_Mutation T 56 NGEF SNP 2 T C 233461000 233461000 Broad DOCK3 1795 broad.mit.edu GRCh37 3 51399377 51399377 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000266037.9:c.5094G>C p.Leu1698= p.L1698= ENST00000266037 NM_004947.4 1698 ctG/ctC 0 Silent G 47 DOCK3 SNP 3 G C 51374417 51374417 Broad MME 4311 broad.mit.edu GRCh37 3 154832894 154832894 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000460393.1:c.308G>T p.Arg103Leu p.R103L ENST00000460393 NM_007287.2 103 cGt/cTt 0 Missense_Mutation G 40 MME SNP 3 G T 156315588 156315588 Broad RAI14 26064 broad.mit.edu GRCh37 5 34824277 34824277 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000515799.1:c.2339C>T p.Ala780Val p.A780V ENST00000515799 NM_001145525.1 780 gCt/gTt 0 Missense_Mutation C 28 RAI14 SNP 5 C T 34860034 34860034 Broad HIST1H2BH 8345 broad.mit.edu GRCh37 6 26251883 26251883 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000356350.2:c.5C>T p.Pro2Leu p.P2L ENST00000356350 NM_003524.2 2 cCt/cTt 0 Missense_Mutation C 24 HIST1H2BH SNP 6 C T 26359862 26359862 Broad USP49 25862 broad.mit.edu GRCh37 6 41774277 41774277 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000373006.1:c.445C>T p.Arg149Cys p.R149C ENST00000373006 NM_018561.3 149 Cgc/Tgc 0 Missense_Mutation G 38 USP49 SNP 6 G A 41882255 41882255 Broad AARS2 57505 broad.mit.edu GRCh37 6 44272925 44272925 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000244571.4:c.1445G>A p.Arg482Gln p.R482Q ENST00000244571 NM_020745.3 482 cGg/cAg 0 Missense_Mutation C 23 AARS2 SNP 6 C T 44380903 44380903 Broad SOGA3 387104 broad.mit.edu GRCh37 6 127797197 127797197 + synonymous_variant,NMD_transcript_variant Silent SNP C C G novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000481848.2:c.1974G>C p.Leu658= p.L658= ENST00000481848 658 ctG/ctC 0 Silent C 25 C6orf174 SNP 6 C G 127838890 127838890 Broad SDK1 221935 broad.mit.edu GRCh37 7 4116655 4116655 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000404826.2:c.3036C>T p.Tyr1012= p.Y1012= ENST00000404826 NM_152744.3 1012 taC/taT 0 Silent C 19 SDK1 SNP 7 C T 4083181 4083181 Broad OPN1SW 611 broad.mit.edu GRCh37 7 128415815 128415815 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000249389.2:c.30T>A p.Tyr10Ter p.Y10* ENST00000249389 NM_001708.2 10 taT/taA 0 Nonsense_Mutation A 12 OPN1SW SNP 7 A T 128203051 128203051 Broad AKR1B1 231 broad.mit.edu GRCh37 7 134135551 134135551 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000285930.4:c.338C>T p.Pro113Leu p.P113L ENST00000285930 NM_001628.2 113 cCg/cTg 0 Missense_Mutation G 39 AKR1B1 SNP 7 G A 133786091 133786091 Broad CSMD3 114788 broad.mit.edu GRCh37 8 113662469 113662470 + missense_variant Missense_Mutation DNP TG TG AT novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000297405.5:c.3113_3114delinsAT p.Ser1038Tyr p.S1038Y ENST00000297405 NM_198123.1 1038 tCA/tAT 0 Missense_Mutation TG 55 CSMD3 DNP 8 TG AT 113731646 113731645 Broad MYC 4609 broad.mit.edu GRCh37 8 128751156 128751156 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000377970.2:c.693C>T p.Phe231= p.F231= ENST00000377970 NM_002467.4 231 ttC/ttT 0 Silent C 32 MYC SNP 8 C T 128820338 128820338 Broad DGKK 139189 broad.mit.edu GRCh37 X 50122709 50122709 + non_coding_transcript_exon_variant RNA SNP C C G novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000376025.2:n.2838G>C *946* ENST00000376025 0 Missense_Mutation C 25 DGKK SNP 23 C G 50139449 50139449 Broad MAGED1 9500 broad.mit.edu GRCh37 X 51639636 51639636 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000375695.2:c.1053C>G p.Leu351= p.L351= ENST00000375695 NM_001005333.1 351 ctC/ctG 0 Silent C 32 MAGED1 SNP 23 C G 51656376 51656376 Broad ZDHHC15 158866 broad.mit.edu GRCh37 X 74649787 74649787 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown x x x ENST00000373367.3:c.478C>T p.Pro160Ser p.P160S ENST00000373367 NM_144969.2 160 Cct/Tct 0 Missense_Mutation G 43 ZDHHC15 SNP 23 G A 74566512 74566512 Broad PACS1 55690 broad.mit.edu GRCh37 11 65984242 65984254 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL CAAGGGTGAGCCT CAAGGGTGAGCCT - novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000320580.4:c.977_978+11del p.X326_splice ENST00000320580 NM_018026.3 325 0 Splice_Site_Del CAAGGGTGAGCCT 17 PACS1 DEL 11 - CAAGGGTGAGCCT 65740830 65740818 Broad LRWD1 222229 broad.mit.edu GRCh37 7 102106497 102106510 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL CGGTAAGTGGGAGC CGGTAAGTGGGAGC - novel Unknown TCGA-24-2261-01 TCGA-24-2261-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000292616.5:c.315_315+13del p.X105_splice ENST00000292616 NM_152892.1 105 0 Splice_Site_Del CGGTAAGTGGGAGC 19 LRWD1 DEL 7 - CGGTAAGTGGGAGC 101893515 101893502 Broad ADAMTSL3 57188 hgsc.bcm.edu GRCh37 15 84651877 84651877 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000286744.5:c.3497A>T p.Asn1166Ile p.N1166I ENST00000286744 NM_207517.2 1166 aAc/aTc 0 Missense_Mutation A 2 ADAMTSL3 SNP 15 A T 82442881 82442881 Baylor ANGPT4 51378 hgsc.bcm.edu GRCh37 20 896772 896772 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381922.3:c.86C>T p.Ala29Val p.A29V ENST00000381922 NM_015985.2 29 gCg/gTg 0 Missense_Mutation G 38 ANGPT4 SNP 20 G A 844772 844772 Baylor ARHGAP25 9938 hgsc.bcm.edu GRCh37 2 69053236 69053236 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000409202.3:c.1851C>T p.Ser617= p.S617= ENST00000409202 617 tcC/tcT 0 Silent C 22 ARHGAP25 SNP 2 C T 68906740 68906740 Baylor ATF7IP2 80063 hgsc.bcm.edu GRCh37 16 10525013 10525013 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000396560.2:c.536A>G p.Gln179Arg p.Q179R ENST00000396560 NM_024997.3 179 cAg/cGg 0 Missense_Mutation A 7 ATF7IP2 SNP 16 A G 10432514 10432514 Baylor FAM196A 642938 hgsc.bcm.edu GRCh37 10 128974315 128974315 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000522781.1:c.345C>A p.Tyr115Ter p.Y115* ENST00000522781 NM_001039762.2 115 taC/taA 0 Nonsense_Mutation G 44 FAM196A SNP 10 G T 128864305 128864305 Baylor C1orf141 400757 hgsc.bcm.edu GRCh37 1 67561090 67561090 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371007.2:c.431A>G p.Gln144Arg p.Q144R ENST00000371007 144 cAg/cGg 0 Missense_Mutation T 55 C1orf141 SNP 1 T C 67333678 67333678 Baylor BPIFA2 140683 hgsc.bcm.edu GRCh37 20 31760767 31760767 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000253362.2:c.187G>C p.Gly63Arg p.G63R ENST00000253362 63 Gga/Cga 0 Missense_Mutation G 35 C20orf70 SNP 20 G C 31224428 31224428 Baylor FAM193A 8603 hgsc.bcm.edu GRCh37 4 2696853 2696853 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000324666.5:c.2400C>A p.Gly800= p.G800= ENST00000324666 NM_001256666.1 800 ggC/ggA 0 Silent C 27 FAM193A SNP 4 C A 2666651 2666651 Baylor NPR3 4883 hgsc.bcm.edu GRCh37 5 32789821 32789821 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000326958.1:c.314G>T p.Gly105Val p.G105V ENST00000326958 105 gGg/gTg 0 Missense_Mutation G 43 C5orf23 SNP 5 G T 32825578 32825578 Baylor CREBRF 153222 hgsc.bcm.edu GRCh37 5 172517730 172517730 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000296953.2:c.548del p.Ala183ValfsTer33 p.A183Vfs*33 ENST00000296953 NM_153607.2 183 gCt/gt 0 Frame_Shift_Del C 28 C5orf41 DEL 5 C - 172450336 172450336 Baylor ATAT1 79969 hgsc.bcm.edu GRCh37 6 30609969 30609969 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000330083.5:c.633G>A p.Leu211= p.L211= ENST00000330083 NM_001031722.2 211 ctG/ctA 0 Silent G 46 C6orf134 SNP 6 G A 30717948 30717948 Baylor CEP89 84902 hgsc.bcm.edu GRCh37 19 33450806 33450806 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000305768.5:c.305G>T p.Arg102Leu p.R102L ENST00000305768 NM_032816.3 102 cGg/cTg 0 Missense_Mutation C 23 CCDC123 SNP 19 C A 38142646 38142646 Baylor CHD6 84181 hgsc.bcm.edu GRCh37 20 40042021 40042021 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373233.3:c.7074G>C p.Leu2358= p.L2358= ENST00000373233 NM_032221.4 2358 ctG/ctC 0 Silent C 25 CHD6 SNP 20 C G 39475435 39475435 Baylor COL7A1 1294 hgsc.bcm.edu GRCh37 3 48602596 48602597 + frameshift_variant Frame_Shift_Ins INS - - GG novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000328333.8:c.8565_8566insCC p.Ser2856ProfsTer43 p.S2856Pfs*43 ENST00000328333 NM_000094.3 2855 -/CC 0 Frame_Shift_Ins - 11 COL7A1 INS 3 - GG 48577601 48577600 Baylor COMMD9 29099 hgsc.bcm.edu GRCh37 11 36296247 36296247 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000263401.5:c.532C>G p.Leu178Val p.L178V ENST00000263401 NM_014186.3 178 Ctg/Gtg 0 Missense_Mutation G 36 COMMD9 SNP 11 G C 36252823 36252823 Baylor CTSL3P 392360 hgsc.bcm.edu GRCh37 9 90388462 90388462 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000412179.1:n.513A>G *171* ENST00000412179 0 Missense_Mutation A 4 CTSL3 SNP 9 A G 89578282 89578282 Baylor NSG1 27065 hgsc.bcm.edu GRCh37 4 4393274 4393274 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000421177.2:c.202G>C p.Glu68Gln p.E68Q ENST00000421177 68 Gag/Cag 0 Missense_Mutation G 45 D4S234E SNP 4 G C 4444175 4444175 Baylor DDX55 57696 hgsc.bcm.edu GRCh37 12 124090657 124090657 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000238146.4:c.197C>G p.Pro66Arg p.P66R ENST00000238146 NM_020936.1 66 cCc/cGc 0 Missense_Mutation C 22 DDX55 SNP 12 C G 122656610 122656610 Baylor EPB41L3 23136 hgsc.bcm.edu GRCh37 18 5416037 5416037 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000341928.2:c.1847T>A p.Leu616His p.L616H ENST00000341928 NM_012307.3 616 cTc/cAc 0 Missense_Mutation A 11 EPB41L3 SNP 18 A T 5406037 5406037 Baylor EPHA3 2042 hgsc.bcm.edu GRCh37 3 89499441 89499441 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000336596.2:c.2611T>G p.Phe871Val p.F871V ENST00000336596 NM_005233.5 871 Ttt/Gtt 0 Missense_Mutation T 60 EPHA3 SNP 3 T G 89582131 89582131 Baylor FAT2 2196 hgsc.bcm.edu GRCh37 5 150923090 150923090 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261800.5:c.7598C>G p.Pro2533Arg p.P2533R ENST00000261800 NM_001447.2 2533 cCc/cGc 0 Missense_Mutation G 43 FAT2 SNP 5 G C 150903283 150903283 Baylor GREB1 9687 hgsc.bcm.edu GRCh37 2 11716494 11716494 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381486.2:c.470G>T p.Cys157Phe p.C157F ENST00000381486 NM_014668.3 157 tGt/tTt 0 Missense_Mutation G 48 GREB1 SNP 2 G T 11633945 11633945 Baylor GSS 2937 hgsc.bcm.edu GRCh37 20 33524780 33524780 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000216951.2:c.655G>C p.Asp219His p.D219H ENST00000216951 NM_000178.2 219 Gac/Cac 0 Missense_Mutation C 29 GSS SNP 20 C G 32988441 32988441 Baylor HMG20A 10363 hgsc.bcm.edu GRCh37 15 77763381 77763381 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381714.3:c.580C>T p.Gln194Ter p.Q194* ENST00000381714 NM_018200.2 194 Caa/Taa 0 Nonsense_Mutation C 25 HMG20A SNP 15 C T 75550436 75550436 Baylor HRNR 388697 hgsc.bcm.edu GRCh37 1 152195729 152195729 + frameshift_variant,start_lost,start_retained_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368801.2:c.1del p.Met1? p.M1? ENST00000368801 NM_001009931.2 1 Atg/tg 0 Frame_Shift_Del T 52 HRNR DEL 1 T - 150462353 150462353 Baylor IKBKE 9641 hgsc.bcm.edu GRCh37 1 206658352 206658352 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367120.3:c.1446A>G p.Gly482= p.G482= ENST00000367120 NM_014002.3 482 ggA/ggG 0 Silent A 9 IKBKE SNP 1 A G 204724975 204724975 Baylor IL17RC 84818 hgsc.bcm.edu GRCh37 3 9974300 9974300 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295981.3:c.1609A>G p.Lys537Glu p.K537E ENST00000295981 NM_153461.3 537 Aag/Gag 0 Missense_Mutation A 5 IL17RC SNP 3 A G 9949300 9949300 Baylor IL2RA 3559 hgsc.bcm.edu GRCh37 10 6104069 6104069 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379959.3:c.46G>C p.Val16Leu p.V16L ENST00000379959 NM_000417.2 16 Gtg/Ctg 0 Missense_Mutation C 18 IL2RA SNP 10 C G 6144075 6144075 Baylor KHNYN 23351 hgsc.bcm.edu GRCh37 14 24902054 24902054 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000251343.5:c.1476C>T p.Val492= p.V492= ENST00000251343 492 gtC/gtT 0 Silent C 29 KHNYN SNP 14 C T 23971894 23971894 Baylor UNC79 57578 hgsc.bcm.edu GRCh37 14 94060163 94060163 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000256339.4:c.2639G>A p.Trp880Ter p.W880* ENST00000256339 NM_020818.3 880 tGg/tAg 0 Nonsense_Mutation G 47 KIAA1409 SNP 14 G A 93129916 93129916 Baylor LMX1A 4009 hgsc.bcm.edu GRCh37 1 165322351 165322351 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000342310.3:c.225C>A p.Tyr75Ter p.Y75* ENST00000342310 NM_177398.3 75 taC/taA 0 Nonsense_Mutation G 44 LMX1A SNP 1 G T 163588975 163588975 Baylor MACF1 23499 hgsc.bcm.edu GRCh37 1 39895648 39895648 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000545844.1:c.10852G>C p.Gly3618Arg p.G3618R ENST00000545844 3618 Ggg/Cgg 0 Missense_Mutation G 39 MACF1 SNP 1 G C 39668235 39668235 Baylor MED13L 23389 hgsc.bcm.edu GRCh37 12 116422004 116422004 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000281928.3:c.4512A>C p.Gln1504His p.Q1504H ENST00000281928 NM_015335.4 1504 caA/caC 0 Missense_Mutation T 56 MED13L SNP 12 T G 114906387 114906387 Baylor MPHOSPH8 54737 hgsc.bcm.edu GRCh37 13 20224279 20224282 + frameshift_variant Frame_Shift_Del DEL AAAC AAAC - novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 AAAC AAAC . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361479.5:c.1460_1463del p.Lys487SerfsTer28 p.K487Sfs*28 ENST00000361479 NM_017520.3 485 gaAAAC/ga 0 Frame_Shift_Del AAAC 1 MPHOSPH8 DEL 13 AAAC - 19122282 19122279 Baylor MTOR 2475 hgsc.bcm.edu GRCh37 1 11272933 11272933 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361445.4:c.3318C>G p.Asn1106Lys p.N1106K ENST00000361445 NM_004958.3 1106 aaC/aaG 0 Missense_Mutation G 44 MTOR SNP 1 G C 11195520 11195520 Baylor MTOR 2475 hgsc.bcm.edu GRCh37 1 11272943 11272943 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361445.4:c.3308T>A p.Phe1103Tyr p.F1103Y ENST00000361445 NM_004958.3 1103 tTt/tAt 0 Missense_Mutation A 1 MTOR SNP 1 A T 11195530 11195530 Baylor MYH1 4619 hgsc.bcm.edu GRCh37 17 10411826 10411826 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000226207.5:c.1751A>T p.His584Leu p.H584L ENST00000226207 NM_005963.3 584 cAc/cTc 0 Missense_Mutation T 59 MYH1 SNP 17 T A 10352551 10352551 Baylor NCKIPSD 51517 hgsc.bcm.edu GRCh37 3 48720358 48720358 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000294129.2:c.259C>G p.Leu87Val p.L87V ENST00000294129 NM_016453.3 87 Ctg/Gtg 0 Missense_Mutation G 35 NCKIPSD SNP 3 G C 48695362 48695362 Baylor NR1I2 8856 hgsc.bcm.edu GRCh37 3 119531662 119531662 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000337940.4:c.766G>T p.Gly256Trp p.G256W ENST00000337940 NM_022002.2 256 Ggg/Tgg 0 Missense_Mutation G 43 NR1I2 SNP 3 G T 121014352 121014352 Baylor NRAP 4892 hgsc.bcm.edu GRCh37 10 115423591 115423591 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000359988.3:c.51G>A p.Glu17= p.E17= ENST00000359988 NM_001261463.1 17 gaG/gaA 0 Silent C 32 NRAP SNP 10 C T 115413581 115413581 Baylor OTUD4 54726 hgsc.bcm.edu GRCh37 4 146092822 146092822 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000454497.2:c.99G>T p.Gln33His p.Q33H ENST00000454497 NM_001102653.1 33 caG/caT 0 Missense_Mutation C 24 OTUD4 SNP 4 C A 146312272 146312272 Baylor PDZRN4 29951 hgsc.bcm.edu GRCh37 12 41966176 41966178 + inframe_deletion In_Frame_Del DEL AAG AAG - novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 AAG AAG . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000402685.2:c.1607_1609delAAG p.Glu536del p.E536del ENST00000402685 NM_001164595.1 532 cAAGaa/caa 0 In_Frame_Del AAG 5 PDZRN4 DEL 12 AAG - 40252445 40252443 Baylor PHF19 26147 hgsc.bcm.edu GRCh37 9 123632799 123632799 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373896.3:c.286G>A p.Glu96Lys p.E96K ENST00000373896 NM_015651.1 96 Gag/Aag 0 Missense_Mutation C 30 PHF19 SNP 9 C T 122672620 122672620 Baylor PIK3C2B 5287 hgsc.bcm.edu GRCh37 1 204403700 204403700 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367187.3:c.3553T>C p.Cys1185Arg p.C1185R ENST00000367187 NM_002646.3 1185 Tgc/Cgc 0 Missense_Mutation A 7 PIK3C2B SNP 1 A G 202670323 202670323 Baylor PMS1 5378 hgsc.bcm.edu GRCh37 2 190708747 190708747 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000441310.2:c.640C>T p.Leu214= p.L214= ENST00000441310 NM_000534.4 214 Ctg/Ttg 0 Silent C 32 PMS1 SNP 2 C T 190416992 190416992 Baylor POU2F1 5451 hgsc.bcm.edu GRCh37 1 167381426 167381426 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367866.2:c.1786del p.Ala596GlnfsTer26 p.A596Qfs*26 ENST00000367866 NM_002697.3 596 Gca/ca 0 Frame_Shift_Del G 34 POU2F1 DEL 1 G - 165648050 165648050 Baylor PRMT5 10419 hgsc.bcm.edu GRCh37 14 23396005 23396005 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000324366.8:c.469T>A p.Leu157Met p.L157M ENST00000324366 NM_006109.3 157 Ttg/Atg 0 Missense_Mutation A 3 PRMT5 SNP 14 A T 22465845 22465845 Baylor PRRG3 79057 hgsc.bcm.edu GRCh37 X 150869329 150869329 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000370353.3:c.520A>T p.Thr174Ser p.T174S ENST00000370353 174 Acc/Tcc 0 Missense_Mutation A 6 PRRG3 SNP 23 A T 150619985 150619985 Baylor QSOX2 169714 hgsc.bcm.edu GRCh37 9 139113725 139113726 + frameshift_variant Frame_Shift_Del DEL TT TT - novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 TT TT . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358701.5:c.737_738del p.Lys246SerfsTer27 p.K246Sfs*27 ENST00000358701 NM_181701.3 246 aAA/a 0 Frame_Shift_Del TT 56 QSOX2 DEL 9 TT - 138253547 138253546 Baylor RNF220 55182 hgsc.bcm.edu GRCh37 1 44878361 44878361 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000355387.2:c.592G>T p.Ala198Ser p.A198S ENST00000355387 198 Gcc/Tcc 0 Missense_Mutation G 34 RNF220 SNP 1 G T 44650948 44650948 Baylor RNPS1 10921 hgsc.bcm.edu GRCh37 16 2314218 2314218 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000565678.1:c.186C>G p.Thr62= p.T62= ENST00000565678 NM_001286625.1 62 acC/acG 0 Silent G 43 RNPS1 SNP 16 G C 2254219 2254219 Baylor SF1 7536 hgsc.bcm.edu GRCh37 11 64537765 64537765 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000377387.1:c.727G>C p.Ala243Pro p.A243P ENST00000377387 NM_001178030.1 243 Gca/Cca 0 Missense_Mutation C 25 SF1 SNP 11 C G 64294341 64294341 Baylor SH3BP4 23677 hgsc.bcm.edu GRCh37 2 235949685 235949685 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000409212.1:c.272A>T p.Glu91Val p.E91V ENST00000409212 91 gAg/gTg 0 Missense_Mutation A 11 SH3BP4 SNP 2 A T 235614424 235614424 Baylor SIN3B 23309 hgsc.bcm.edu GRCh37 19 16952586 16952586 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379803.1:c.389C>T p.Ser130Leu p.S130L ENST00000379803 NM_015260.2 130 tCg/tTg 0 Missense_Mutation C 31 SIN3B SNP 19 C T 16813586 16813586 Baylor SLC17A6 57084 hgsc.bcm.edu GRCh37 11 22391651 22391651 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000263160.3:c.958T>G p.Phe320Val p.F320V ENST00000263160 NM_020346.2 320 Ttc/Gtc 0 Missense_Mutation T 56 SLC17A6 SNP 11 T G 22348227 22348227 Baylor SLC34A2 10568 hgsc.bcm.edu GRCh37 4 25667856 25667856 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000382051.3:c.486C>A p.Thr162= p.T162= ENST00000382051 NM_006424.2 162 acC/acA 0 Silent C 24 SLC34A2 SNP 4 C A 25276954 25276954 Baylor SLC6A2 6530 hgsc.bcm.edu GRCh37 16 55706077 55706077 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000219833.8:c.634G>T p.Glu212Ter p.E212* ENST00000219833 NM_001172504.1 212 Gag/Tag 0 Nonsense_Mutation G 37 SLC6A2 SNP 16 G T 54263578 54263578 Baylor SYNE1 23345 hgsc.bcm.edu GRCh37 6 152697532 152697532 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367255.5:c.9308G>T p.Ser3103Ile p.S3103I ENST00000367255 NM_182961.3 3103 aGt/aTt 0 Missense_Mutation C 20 SYNE1 SNP 6 C A 152739225 152739225 Baylor SYNE2 23224 hgsc.bcm.edu GRCh37 14 64596541 64596541 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358025.3:c.14061C>T p.Ser4687= p.S4687= ENST00000358025 NM_182914.2 4687 agC/agT 0 Silent C 26 SYNE2 SNP 14 C T 63666294 63666294 Baylor TGFBR2 7048 hgsc.bcm.edu GRCh37 3 30713461 30713461 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000359013.4:c.861G>C p.Lys287Asn p.K287N ENST00000359013 NM_001024847.2 287 aaG/aaC 0 Missense_Mutation G 34 TGFBR2 SNP 3 G C 30688465 30688465 Baylor TNFRSF10A 8797 hgsc.bcm.edu GRCh37 8 23049492 23049492 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000221132.3:c.1122C>A p.Ile374= p.I374= ENST00000221132 NM_003844.3 374 atC/atA 0 Silent G 37 TNFRSF10A SNP 8 G T 23105437 23105437 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7576927 7576927 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.920-1G>A p.X307_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 28 TP53 SNP 17 C T 7517652 7517652 Baylor TUFM 7284 hgsc.bcm.edu GRCh37 16 28856084 28856084 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000313511.3:c.619A>C p.Thr207Pro p.T207P ENST00000313511 NM_003321.4 207 Acc/Ccc 0 Missense_Mutation T 59 TUFM SNP 16 T G 28763585 28763585 Baylor VAV1 7409 hgsc.bcm.edu GRCh37 19 6828827 6828827 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000602142.1:c.1181A>G p.Asp394Gly p.D394G ENST00000602142 NM_005428.3 394 gAc/gGc 0 Missense_Mutation A 10 VAV1 SNP 19 A G 6779827 6779827 Baylor VCL 7414 hgsc.bcm.edu GRCh37 10 75857067 75857067 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000211998.4:c.1849C>T p.Pro617Ser p.P617S ENST00000211998 NM_014000.2 617 Cct/Tct 0 Missense_Mutation C 30 VCL SNP 10 C T 75527073 75527073 Baylor VPS33A 65082 hgsc.bcm.edu GRCh37 12 122745828 122745828 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000267199.4:c.463G>T p.Glu155Ter p.E155* ENST00000267199 NM_022916.4 155 Gaa/Taa 0 Nonsense_Mutation C 30 VPS33A SNP 12 C A 121311781 121311781 Baylor WDR49 151790 hgsc.bcm.edu GRCh37 3 167250750 167250750 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000308378.3:c.914A>C p.Glu305Ala p.E305A ENST00000308378 NM_178824.3 305 gAa/gCa 0 Missense_Mutation T 62 WDR49 SNP 3 T G 168733444 168733444 Baylor ZFYVE26 23503 hgsc.bcm.edu GRCh37 14 68251956 68251956 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1556-01 TCGA-24-1556-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000347230.4:c.3343G>T p.Ala1115Ser p.A1115S ENST00000347230 NM_015346.3 1115 Gca/Tca 0 Missense_Mutation C 26 ZFYVE26 SNP 14 C A 67321709 67321709 Baylor ZBTB48 3104 broad.mit.edu GRCh37 1 6647318 6647318 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000377674.4:c.1191G>A p.Met397Ile p.M397I ENST00000377674 NM_001278648.1 397 atG/atA 0 Missense_Mutation G 45 ZBTB48 SNP 1 G A 6569905 6569905 Broad BAI2 576 broad.mit.edu GRCh37 1 32196563 32196563 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000373658.3:c.4218G>A p.Leu1406= p.L1406= ENST00000373658 NM_001703.2 1406 ctG/ctA 0 Silent C 21 BAI2 SNP 1 C T 31969150 31969150 Broad RABGGTB 5876 broad.mit.edu GRCh37 1 76260326 76260326 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000319942.3:c.987A>G p.Leu329= p.L329= ENST00000319942 NM_004582.3 329 ctA/ctG 0 Silent A 15 RABGGTB SNP 1 A G 76032914 76032914 Broad ARHGAP29 9411 broad.mit.edu GRCh37 1 94645387 94645387 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000260526.6:c.2374A>G p.Met792Val p.M792V ENST00000260526 NM_004815.3 792 Atg/Gtg 0 Missense_Mutation T 49 ARHGAP29 SNP 1 T C 94417975 94417975 Broad RABGAP1L 9910 broad.mit.edu GRCh37 1 174927031 174927031 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000251507.4:c.2437G>C p.Val813Leu p.V813L ENST00000251507 NM_014857.4 813 Gta/Cta 0 Missense_Mutation G 48 RABGAP1L SNP 1 G C 173193654 173193654 Broad ZBTB18 10472 broad.mit.edu GRCh37 1 244218520 244218520 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000358704.4:c.1444C>T p.Arg482Cys p.R482C ENST00000358704 NM_205768.2 482 Cgc/Tgc 0 Missense_Mutation C 27 ZNF238 SNP 1 C T 242285143 242285143 Broad ANKRD30A 91074 broad.mit.edu GRCh37 10 37430974 37430974 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000361713.1:c.981C>T p.Ile327= p.I327= ENST00000361713 NM_052997.2 327 atC/atT 0 Silent C 31 ANKRD30A SNP 10 C T 37470980 37470980 Broad MADD 8567 broad.mit.edu GRCh37 11 47333346 47333346 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000311027.5:c.4222G>C p.Val1408Leu p.V1408L ENST00000311027 NM_003682.3 1408 Gtg/Ctg 0 Missense_Mutation G 48 MADD SNP 11 G C 47289922 47289922 Broad OR4C15 81309 broad.mit.edu GRCh37 11 55322677 55322677 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000314644.2:c.895G>C p.Val299Leu p.V299L ENST00000314644 NM_001001920.1 299 Gtt/Ctt 0 Missense_Mutation G 48 OR4C15 SNP 11 G C 55079253 55079253 Broad MTA2 9219 broad.mit.edu GRCh37 11 62365832 62365832 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000278823.2:c.339G>T p.Glu113Asp p.E113D ENST00000278823 NM_004739.3 113 gaG/gaT 0 Missense_Mutation C 32 MTA2 SNP 11 C A 62122408 62122408 Broad CDC42BPG 55561 broad.mit.edu GRCh37 11 64609296 64609296 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000342711.5:c.241G>C p.Ala81Pro p.A81P ENST00000342711 NM_017525.2 81 Gcc/Ccc 0 Missense_Mutation C 28 CDC42BPG SNP 11 C G 64365872 64365872 Broad FDXACB1 91893 broad.mit.edu GRCh37 11 111749785 111749785 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000260257.4:c.72G>A p.Leu24= p.L24= ENST00000260257 NM_138378.2 24 ctG/ctA 0 Silent C 21 FDXACB1 SNP 11 C T 111254995 111254995 Broad GALNT6 11226 broad.mit.edu GRCh37 12 51748228 51748228 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000543196.2:c.1804G>A p.Asp602Asn p.D602N ENST00000543196 602 Gac/Aac 0 Missense_Mutation C 30 GALNT6 SNP 12 C T 50034495 50034495 Broad SMARCC2 6601 broad.mit.edu GRCh37 12 56568498 56568498 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000267064.4:c.1433A>T p.Gln478Leu p.Q478L ENST00000267064 NM_003075.3 478 cAa/cTa 0 Missense_Mutation T 63 SMARCC2 SNP 12 T A 54854765 54854765 Broad HCAR3 8843 broad.mit.edu GRCh37 12 123200237 123200237 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000528880.2:c.1048G>A p.Gly350Ser p.G350S ENST00000528880 NM_006018.2 350 Ggt/Agt 0 Missense_Mutation C 23 NIACR2 SNP 12 C T 121766190 121766190 Broad SPERT 220082 broad.mit.edu GRCh37 13 46287930 46287930 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000310521.1:c.770T>A p.Leu257Gln p.L257Q ENST00000310521 NM_152719.1 257 cTg/cAg 0 Missense_Mutation T 55 SPERT SNP 13 T A 45185931 45185931 Broad NFATC4 4776 broad.mit.edu GRCh37 14 24838789 24838789 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000413692.2:c.374C>A p.Pro125His p.P125H ENST00000413692 NM_001198967.1 125 cCc/cAc 0 Missense_Mutation C 22 NFATC4 SNP 14 C A 23908629 23908629 Broad VRTN 55237 broad.mit.edu GRCh37 14 74823799 74823799 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000256362.4:c.313C>T p.Arg105Trp p.R105W ENST00000256362 NM_018228.2 105 Cgg/Tgg 0 Missense_Mutation C 27 C14orf115 SNP 14 C T 73893552 73893552 Broad MGA 23269 broad.mit.edu GRCh37 15 42052633 42052633 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000219905.7:c.7304G>A p.Arg2435Gln p.R2435Q ENST00000219905 NM_001164273.1 2435 cGg/cAg 0 Missense_Mutation G 39 MGA SNP 15 G A 39839925 39839925 Broad DENND4A 10260 broad.mit.edu GRCh37 15 66044814 66044814 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000443035.3:c.464C>T p.Thr155Met p.T155M ENST00000443035 NM_001144823.1 155 aCg/aTg 0 Missense_Mutation G 40 DENND4A SNP 15 G A 63831868 63831868 Broad CACNA1H 8912 broad.mit.edu GRCh37 16 1260486 1260486 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000348261.5:c.3962G>T p.Gly1321Val p.G1321V ENST00000348261 NM_021098.2 1321 gGc/gTc 0 Missense_Mutation G 42 CACNA1H SNP 16 G T 1200487 1200487 Broad ZNF646 9726 broad.mit.edu GRCh37 16 31088802 31088802 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000300850.5:c.1157C>G p.Ala386Gly p.A386G ENST00000300850 NM_014699.3 386 gCt/gGt 0 Missense_Mutation C 28 ZNF646 SNP 16 C G 30996303 30996303 Broad MYLK3 91807 broad.mit.edu GRCh37 16 46781884 46781884 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000394809.4:c.222C>A p.Gly74= p.G74= ENST00000394809 NM_182493.2 74 ggC/ggA 0 Silent G 42 MYLK3 SNP 16 G T 45339385 45339385 Broad PLEKHG4 25894 broad.mit.edu GRCh37 16 67314682 67314682 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000360461.5:c.568C>T p.Leu190= p.L190= ENST00000360461 NM_001129727.1 190 Ctg/Ttg 0 Silent C 28 PLEKHG4 SNP 16 C T 65872183 65872183 Broad SPAG7 9552 broad.mit.edu GRCh37 17 4862933 4862933 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000206020.3:c.580G>A p.Val194Met p.V194M ENST00000206020 NM_004890.2 194 Gtg/Atg 0 Missense_Mutation C 19 SPAG7 SNP 17 C T 4803656 4803656 Broad TXNDC17 84817 broad.mit.edu GRCh37 17 6546273 6546273 + splice_region_variant,synonymous_variant Splice_Region SNP T T G novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000250101.5:c.306T>G p.Pro102= p.P102= ENST00000250101 NM_032731.3 102 ccT/ccG 0 Silent T 54 TXNDC17 SNP 17 T G 6486997 6486997 Broad TP53 7157 broad.mit.edu GRCh37 17 7578176 7578176 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.672+1G>T p.X224_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 18 TP53 SNP 17 C A 7518901 7518901 Broad MKS1 54903 broad.mit.edu GRCh37 17 56283478 56283478 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000393119.2:c.1642C>T p.Gln548Ter p.Q548* ENST00000393119 NM_017777.3 548 Cag/Tag 0 Nonsense_Mutation G 46 MKS1 SNP 17 G A 53638477 53638477 Broad ENPP7 339221 broad.mit.edu GRCh37 17 77710977 77710977 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000328313.5:c.1164C>T p.Tyr388= p.Y388= ENST00000328313 NM_178543.3 388 taC/taT 0 Silent C 19 ENPP7 SNP 17 C T 75325572 75325572 Broad LAMA3 3909 broad.mit.edu GRCh37 18 21402273 21402273 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000313654.9:c.2362A>C p.Ile788Leu p.I788L ENST00000313654 NM_198129.1 788 Att/Ctt 0 Missense_Mutation A 16 LAMA3 SNP 18 A C 19656271 19656271 Broad PSPN 5623 broad.mit.edu GRCh37 19 6375765 6375765 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000245810.1:c.96C>T p.Ala32= p.A32= ENST00000245810 NM_004158.2 32 gcC/gcT 0 Silent G 39 PSPN SNP 19 G A 6326765 6326765 Broad SCN1B 6324 broad.mit.edu GRCh37 19 35524605 35524605 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000415950.3:c.410G>A p.Ser137Asn p.S137N ENST00000415950 NM_199037.3 137 aGc/aAc 0 Missense_Mutation G 34 SCN1B SNP 19 G A 40216445 40216445 Broad SBSN 374897 broad.mit.edu GRCh37 19 36017693 36017693 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000452271.2:c.1491G>T p.Gly497= p.G497= ENST00000452271 NM_001166034.1 497 ggG/ggT 0 Silent C 22 SBSN SNP 19 C A 40709533 40709533 Broad FOXA3 3171 broad.mit.edu GRCh37 19 46375897 46375897 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000302177.2:c.634C>T p.Arg212Cys p.R212C ENST00000302177 NM_004497.2 212 Cgc/Tgc 0 Missense_Mutation C 19 FOXA3 SNP 19 C T 51067737 51067737 Broad NKG7 4818 broad.mit.edu GRCh37 19 51875203 51875203 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000221978.5:c.430C>A p.Leu144Ile p.L144I ENST00000221978 NM_005601.3 144 Ctc/Atc 0 Missense_Mutation G 34 NKG7 SNP 19 G T 56567015 56567015 Broad ZFP28 140612 broad.mit.edu GRCh37 19 57059204 57059204 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000301318.3:c.456C>G p.Ile152Met p.I152M ENST00000301318 NM_020828.1 152 atC/atG 0 Missense_Mutation C 32 ZFP28 SNP 19 C G 61751016 61751016 Broad SOS1 6654 broad.mit.edu GRCh37 2 39213419 39213419 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000402219.2:c.3548C>G p.Pro1183Arg p.P1183R ENST00000402219 NM_005633.3 1183 cCt/cGt 0 Missense_Mutation G 35 SOS1 SNP 2 G C 39066923 39066923 Broad MAP3K2 10746 broad.mit.edu GRCh37 2 128083320 128083320 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000409947.1:c.661G>C p.Asp221His p.D221H ENST00000409947 221 Gat/Cat 0 Missense_Mutation C 29 MAP3K2 SNP 2 C G 127799790 127799790 Broad LRP1B 53353 broad.mit.edu GRCh37 2 141130630 141130630 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000389484.3:c.10715G>A p.Cys3572Tyr p.C3572Y ENST00000389484 NM_018557.2 3572 tGt/tAt 0 Missense_Mutation C 17 LRP1B SNP 2 C T 140847100 140847100 Broad SCN7A 6332 broad.mit.edu GRCh37 2 167328943 167328943 + synonymous_variant Silent SNP A A T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000409855.1:c.456T>A p.Leu152= p.L152= ENST00000409855 NM_002976.3 152 ctT/ctA 0 Silent A 5 SCN7A SNP 2 A T 167037189 167037189 Broad XIRP2 129446 broad.mit.edu GRCh37 2 168103651 168103651 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000409195.1:c.5749C>A p.Leu1917Ile p.L1917I ENST00000409195 NM_152381.5 1917 Ctt/Att 0 Missense_Mutation C 28 XIRP2 SNP 2 C A 167811897 167811897 Broad ZNF804A 91752 broad.mit.edu GRCh37 2 185800759 185800759 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000302277.6:c.636C>A p.Ile212= p.I212= ENST00000302277 NM_194250.1 212 atC/atA 0 Silent C 31 ZNF804A SNP 2 C A 185509004 185509004 Broad ABCA12 26154 broad.mit.edu GRCh37 2 215852505 215852505 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000272895.7:c.3842T>C p.Met1281Thr p.M1281T ENST00000272895 NM_173076.2 1281 aTg/aCg 0 Missense_Mutation A 8 ABCA12 SNP 2 A G 215560750 215560750 Broad ZNF142 7701 broad.mit.edu GRCh37 2 219513879 219513879 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000411696.2:c.752A>G p.Asp251Gly p.D251G ENST00000411696 251 gAc/gGc 0 Missense_Mutation T 58 ZNF142 SNP 2 T C 219222123 219222123 Broad ADA 100 broad.mit.edu GRCh37 20 43251493 43251493 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000372874.4:c.757C>T p.Arg253Trp p.R253W ENST00000372874 NM_000022.2 253 Cgg/Tgg 0 Missense_Mutation G 38 ADA SNP 20 G A 42684907 42684907 Broad CECR5 27440 broad.mit.edu GRCh37 22 17619025 17619025 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000336737.4:c.1158C>T p.His386= p.H386= ENST00000336737 NM_033070.2 386 caC/caT 0 Silent G 40 CECR5 SNP 22 G A 15999025 15999025 Broad IL5RA 3568 broad.mit.edu GRCh37 3 3137080 3137080 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000446632.2:c.758G>A p.Arg253His p.R253H ENST00000446632 NM_175726.3 253 cGt/cAt 0 Missense_Mutation C 19 IL5RA SNP 3 C T 3112080 3112080 Broad NBEAL2 23218 broad.mit.edu GRCh37 3 47038837 47038837 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000450053.3:c.2738C>G p.Pro913Arg p.P913R ENST00000450053 NM_015175.2 913 cCa/cGa 0 Missense_Mutation C 21 NBEAL2 SNP 3 C G 47013841 47013841 Broad UBA7 7318 broad.mit.edu GRCh37 3 49851033 49851033 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000333486.3:c.104T>A p.Val35Asp p.V35D ENST00000333486 NM_003335.2 35 gTc/gAc 0 Missense_Mutation A 10 UBA7 SNP 3 A T 49826037 49826037 Broad HTR1F 3355 broad.mit.edu GRCh37 3 88040588 88040588 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000319595.4:c.689T>A p.Leu230His p.L230H ENST00000319595 NM_000866.3 230 cTt/cAt 0 Missense_Mutation T 56 HTR1F SNP 3 T A 88123278 88123278 Broad ZNF718 255403 broad.mit.edu GRCh37 4 155481 155481 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000510175.1:n.916G>C *306* ENST00000510175 0 Missense_Mutation G 33 ZNF718 SNP 4 G C 145481 145481 Broad FAM193A 8603 broad.mit.edu GRCh37 4 2648498 2648498 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000324666.5:c.377G>A p.Arg126His p.R126H ENST00000324666 NM_001256666.1 126 cGc/cAc 0 Missense_Mutation G 38 FAM193A SNP 4 G A 2618296 2618296 Broad SKP2 6502 broad.mit.edu GRCh37 5 36177066 36177066 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000274255.6:c.902-1G>C p.X301_splice ENST00000274255 NM_005983.3 0 Splice_Site_SNP G 33 SKP2 SNP 5 G C 36212823 36212823 Broad CMYA5 202333 broad.mit.edu GRCh37 5 79033753 79033753 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000446378.2:c.9165A>G p.Lys3055= p.K3055= ENST00000446378 NM_153610.3 3055 aaA/aaG 0 Silent A 4 CMYA5 SNP 5 A G 79069509 79069509 Broad EDIL3 10085 broad.mit.edu GRCh37 5 83402634 83402634 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000296591.5:c.484C>A p.Leu162Met p.L162M ENST00000296591 NM_005711.4 162 Ctg/Atg 0 Missense_Mutation G 36 EDIL3 SNP 5 G T 83438390 83438390 Broad ADAMTS19 171019 broad.mit.edu GRCh37 5 129019833 129019833 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000274487.4:c.2667G>C p.Gln889His p.Q889H ENST00000274487 NM_133638.3 889 caG/caC 0 Missense_Mutation G 33 ADAMTS19 SNP 5 G C 129047732 129047732 Broad MGAT1 4245 broad.mit.edu GRCh37 5 180219292 180219292 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000446023.2:c.680C>T p.Pro227Leu p.P227L ENST00000446023 NM_001114618.1 227 cCg/cTg 0 Missense_Mutation G 39 MGAT1 SNP 5 G A 180151898 180151898 Broad GFOD1 54438 broad.mit.edu GRCh37 6 13365742 13365742 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000379287.3:c.406G>A p.Glu136Lys p.E136K ENST00000379287 NM_018988.3 136 Gag/Aag 0 Missense_Mutation C 31 GFOD1 SNP 6 C T 13473721 13473721 Broad RPL10A 4736 broad.mit.edu GRCh37 6 35436212 35436212 + start_lost Translation_Start_Site SNP A A G novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000322203.6:c.1A>G p.Met1? p.M1? ENST00000322203 NM_007104.4 1 Atg/Gtg 0 Missense_Mutation A 8 RPL10A SNP 6 A G 35544190 35544190 Broad IBTK 25998 broad.mit.edu GRCh37 6 82924180 82924180 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000306270.7:c.1968C>T p.Asn656= p.N656= ENST00000306270 NM_015525.2 656 aaC/aaT 0 Silent G 44 IBTK SNP 6 G A 82980899 82980899 Broad EPHA7 2045 broad.mit.edu GRCh37 6 93979277 93979277 + synonymous_variant Silent SNP A A T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000369303.4:c.1551T>A p.Ala517= p.A517= ENST00000369303 NM_004440.3 517 gcT/gcA 0 Silent A 3 EPHA7 SNP 6 A T 94035998 94035998 Broad POPDC3 64208 broad.mit.edu GRCh37 6 105606438 105606438 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000254765.3:c.783G>A p.Arg261= p.R261= ENST00000254765 NM_022361.4 261 cgG/cgA 0 Silent C 26 POPDC3 SNP 6 C T 105713131 105713131 Broad GJA1 2697 broad.mit.edu GRCh37 6 121769073 121769073 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000282561.3:c.1080C>A p.Asp360Glu p.D360E ENST00000282561 NM_000165.3 360 gaC/gaA 0 Missense_Mutation C 18 GJA1 SNP 6 C A 121810772 121810772 Broad STX11 8676 broad.mit.edu GRCh37 6 144508227 144508227 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000367568.4:c.463G>A p.Asp155Asn p.D155N ENST00000367568 NM_003764.3 155 Gac/Aac 0 Missense_Mutation G 37 STX11 SNP 6 G A 144549920 144549920 Broad GRM1 2911 broad.mit.edu GRCh37 6 146350887 146350887 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000361719.2:c.234G>T p.Arg78Ser p.R78S ENST00000361719 78 agG/agT 0 Missense_Mutation G 43 GRM1 SNP 6 G T 146392580 146392580 Broad PKD1L1 168507 broad.mit.edu GRCh37 7 47944083 47944083 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000289672.2:c.1823T>G p.Val608Gly p.V608G ENST00000289672 NM_138295.3 608 gTg/gGg 0 Missense_Mutation A 6 PKD1L1 SNP 7 A C 47910608 47910608 Broad SAMD9L 219285 broad.mit.edu GRCh37 7 92761213 92761213 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000318238.4:c.4072G>T p.Glu1358Ter p.E1358* ENST00000318238 NM_152703.2 1358 Gaa/Taa 0 Nonsense_Mutation C 30 SAMD9L SNP 7 C A 92599149 92599149 Broad COL26A1 136227 broad.mit.edu GRCh37 7 101196625 101196625 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000313669.7:c.1048G>T p.Gly350Trp p.G350W ENST00000313669 NM_001278563.1 350 Ggg/Tgg 0 Missense_Mutation G 43 EMID2 SNP 7 G T 100983345 100983345 Broad HR 55806 broad.mit.edu GRCh37 8 21985072 21985072 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000381418.4:c.883G>T p.Ala295Ser p.A295S ENST00000381418 NM_005144.4 295 Gct/Tct 0 Missense_Mutation C 26 HR SNP 8 C A 22041017 22041017 Broad ST18 9705 broad.mit.edu GRCh37 8 53071594 53071594 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000276480.7:c.1670G>A p.Arg557His p.R557H ENST00000276480 NM_014682.2 557 cGt/cAt 0 Missense_Mutation C 19 ST18 SNP 8 C T 53234147 53234147 Broad BICD2 23299 broad.mit.edu GRCh37 9 95481277 95481277 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000356884.6:c.1650C>A p.Asn550Lys p.N550K ENST00000356884 NM_001003800.1 550 aaC/aaA 0 Missense_Mutation G 44 BICD2 SNP 9 G T 94521098 94521098 Broad SLC34A3 142680 broad.mit.edu GRCh37 9 140126594 140126594 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000538474.1:c.156C>A p.Asp52Glu p.D52E ENST00000538474 NM_001177317.1 52 gaC/gaA 0 Missense_Mutation C 17 SLC34A3 SNP 9 C A 139246415 139246415 Broad CTPS2 56474 broad.mit.edu GRCh37 X 16696534 16696534 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000443824.1:c.1045G>A p.Glu349Lys p.E349K ENST00000443824 NM_001144002.1 349 Gag/Aag 0 Missense_Mutation C 31 CTPS2 SNP 23 C T 16606455 16606455 Broad WAS 7454 broad.mit.edu GRCh37 X 48547366 48547366 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000376701.4:c.1249C>T p.Pro417Ser p.P417S ENST00000376701 NM_000377.2 417 Cct/Tct 0 Missense_Mutation C 30 WAS SNP 23 C T 48432310 48432310 Broad LAS1L 81887 broad.mit.edu GRCh37 X 64749507 64749507 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000374811.3:c.766T>G p.Cys256Gly p.C256G ENST00000374811 NM_031206.4 256 Tgc/Ggc 0 Missense_Mutation A 5 LAS1L SNP 23 A C 64666232 64666232 Broad EFNB1 1947 broad.mit.edu GRCh37 X 68060252 68060252 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000204961.4:c.796C>T p.Arg266Cys p.R266C ENST00000204961 NM_004429.4 266 Cgc/Tgc 0 Missense_Mutation C 19 EFNB1 SNP 23 C T 67976977 67976977 Broad NONO 4841 broad.mit.edu GRCh37 X 70514365 70514365 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000276079.8:c.637T>C p.Phe213Leu p.F213L ENST00000276079 NM_007363.4 213 Ttc/Ctc 0 Missense_Mutation T 56 NONO SNP 23 T C 70431090 70431090 Broad DACH2 117154 broad.mit.edu GRCh37 X 85950139 85950139 + synonymous_variant Silent SNP T T A novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000373125.4:c.888T>A p.Ala296= p.A296= ENST00000373125 NM_053281.3 296 gcT/gcA 0 Silent T 54 DACH2 SNP 23 T A 85836795 85836795 Broad FMR1NB 158521 broad.mit.edu GRCh37 X 147090191 147090191 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown x x x ENST00000370467.3:c.592G>C p.Val198Leu p.V198L ENST00000370467 NM_152578.2 198 Gta/Cta 0 Missense_Mutation G 44 FMR1NB SNP 23 G C 146897883 146897883 Broad NBPF16 728936 broad.mit.edu GRCh37 1 148753330 148753336 + frameshift_variant Frame_Shift_Del DEL TTATCTT TTATCTT - novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000417839.1:c.1347_1353del p.Asp449GlufsTer6 p.D449Efs*6 ENST00000417839 NM_001102663.1 449 gaTTATCTT/ga 0 Frame_Shift_Del TTATCTT 52 NBPF16 DEL 1 - TTATCTT 147019960 147019954 Broad KRTAP5-5 439915 broad.mit.edu GRCh37 11 1651586 1651615 + inframe_deletion In_Frame_Del DEL CTGCTGCCAGTCCAGCTGCTGTAAGCCTTA CTGCTGCCAGTCCAGCTGCTGTAAGCCTTA - novel Unknown TCGA-25-2400-01 TCGA-25-2400-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000399676.2:c.543_572delTTACTGCTGCCAGTCCAGCTGCTGTAAGCC p.Tyr192_Pro201del p.Y192_P201del ENST00000399676 NM_001001480.2 172 tcCTGCTGCCAGTCCAGCTGCTGTAAGCCTTAc/tcc 0 In_Frame_Del CTGCTGCCAGTCCAGCTGCTGTAAGCCTTA 24 KRTAP5-5 DEL 11 - CTGCTGCCAGTCCAGCTGCTGTAAGCCTTA 1608191 1608162 Broad MASP2 10747 broad.mit.edu GRCh37 1 11097845 11097845 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000400897.3:c.913G>C p.Ala305Pro p.A305P ENST00000400897 NM_006610.3 305 Gcg/Ccg 0 Missense_Mutation C 26 MASP2 SNP 1 C G 11020432 11020432 Broad FBXO42 54455 broad.mit.edu GRCh37 1 16577626 16577626 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000375592.3:c.1693G>T p.Ala565Ser p.A565S ENST00000375592 NM_018994.1 565 Gcg/Tcg 0 Missense_Mutation C 28 FBXO42 SNP 1 C A 16450213 16450213 Broad AKR7A3 22977 broad.mit.edu GRCh37 1 19610552 19610552 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000361640.4:c.772G>T p.Ala258Ser p.A258S ENST00000361640 NM_012067.2 258 Gcc/Tcc 0 Missense_Mutation C 27 AKR7A3 SNP 1 C A 19483139 19483139 Broad COL16A1 1307 broad.mit.edu GRCh37 1 32118385 32118385 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000373672.3:c.4682G>T p.Gly1561Val p.G1561V ENST00000373672 NM_001856.3 1561 gGc/gTc 0 Missense_Mutation C 26 COL16A1 SNP 1 C A 31890972 31890972 Broad SPOCD1 90853 broad.mit.edu GRCh37 1 32280758 32280758 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000360482.2:c.177C>A p.Ile59= p.I59= ENST00000360482 NM_144569.4 59 atC/atA 0 Silent G 41 SPOCD1 SNP 1 G T 32053345 32053345 Broad SSBP3 23648 broad.mit.edu GRCh37 1 54694492 54694492 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000371320.3:c.935T>A p.Met312Lys p.M312K ENST00000371320 NM_145716.3 312 aTg/aAg 0 Missense_Mutation A 8 SSBP3 SNP 1 A T 54467080 54467080 Broad INADL 10207 broad.mit.edu GRCh37 1 62231957 62231957 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000371158.2:c.196C>T p.His66Tyr p.H66Y ENST00000371158 NM_176877.2 66 Cat/Tat 0 Missense_Mutation C 21 INADL SNP 1 C T 62004545 62004545 Broad FLG2 388698 broad.mit.edu GRCh37 1 152327068 152327068 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000388718.5:c.3194G>T p.Gly1065Val p.G1065V ENST00000388718 NM_001014342.2 1065 gGa/gTa 0 Missense_Mutation C 30 FLG2 SNP 1 C A 150593692 150593692 Broad ATP8B2 57198 broad.mit.edu GRCh37 1 154315956 154315956 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000368489.3:c.1769T>C p.Leu590Pro p.L590P ENST00000368489 NM_020452.3 590 cTc/cCc 0 Missense_Mutation T 54 ATP8B2 SNP 1 T C 152582580 152582580 Broad ARHGEF2 9181 broad.mit.edu GRCh37 1 155921756 155921756 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000361247.4:c.2126A>G p.Asn709Ser p.N709S ENST00000361247 NM_001162384.1 709 aAt/aGt 0 Missense_Mutation T 52 ARHGEF2 SNP 1 T C 154188380 154188380 Broad NHLH1 4807 broad.mit.edu GRCh37 1 160340544 160340544 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000302101.5:c.23T>C p.Met8Thr p.M8T ENST00000302101 NM_005598.3 8 aTg/aCg 0 Missense_Mutation T 51 NHLH1 SNP 1 T C 158607168 158607168 Broad SCYL3 57147 broad.mit.edu GRCh37 1 169825046 169825046 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000367772.4:c.1365G>C p.Leu455Phe p.L455F ENST00000367772 NM_181093.3 455 ttG/ttC 0 Missense_Mutation C 21 SCYL3 SNP 1 C G 168091670 168091670 Broad PLD5 200150 broad.mit.edu GRCh37 1 242253345 242253345 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000536534.2:c.1422A>C p.Ala474= p.A474= ENST00000536534 474 gcA/gcC 0 Silent T 55 PLD5 SNP 1 T G 240319968 240319968 Broad OR2W3 343171 broad.mit.edu GRCh37 1 248059394 248059394 + missense_variant Missense_Mutation SNP G G A rs12083024 byFrequency;byHapMap TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000537741.1:c.506G>A p.Cys169Tyr p.C169Y ENST00000537741 169 tGt/tAt 0 Missense_Mutation G 48 OR2W3 SNP 1 G A 246126017 246126017 Broad PIK3AP1 118788 broad.mit.edu GRCh37 10 98380198 98380198 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000339364.5:c.1852G>A p.Gly618Ser p.G618S ENST00000339364 NM_152309.2 618 Ggc/Agc 0 Missense_Mutation C 22 PIK3AP1 SNP 10 C T 98370188 98370188 Broad AHNAK 79026 broad.mit.edu GRCh37 11 62293922 62293922 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000378024.4:c.7967C>T p.Pro2656Leu p.P2656L ENST00000378024 NM_001620.2 2656 cCa/cTa 0 Missense_Mutation G 47 AHNAK SNP 11 G A 62050498 62050498 Broad MRPL49 740 broad.mit.edu GRCh37 11 64893239 64893239 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000279242.2:c.396G>T p.Leu132= p.L132= ENST00000279242 NM_004927.3 132 ctG/ctT 0 Silent G 47 MRPL49 SNP 11 G T 64649815 64649815 Broad C2CD3 26005 broad.mit.edu GRCh37 11 73834106 73834106 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000313663.7:c.1292T>C p.Val431Ala p.V431A ENST00000313663 NM_015531.4 431 gTg/gCg 0 Missense_Mutation A 6 C2CD3 SNP 11 A G 73511754 73511754 Broad FAT3 120114 broad.mit.edu GRCh37 11 92577313 92577313 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000298047.6:c.10780A>T p.Ser3594Cys p.S3594C ENST00000298047 3594 Agc/Tgc 0 Missense_Mutation A 3 FAT3 SNP 11 A T 92216961 92216961 Broad TMPRSS4 56649 broad.mit.edu GRCh37 11 117978571 117978571 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000437212.3:c.523C>T p.Arg175Cys p.R175C ENST00000437212 175 Cgc/Tgc 0 Missense_Mutation C 31 TMPRSS4 SNP 11 C T 117483781 117483781 Broad TECTA 7007 broad.mit.edu GRCh37 11 121031006 121031006 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000392793.1:c.4852G>T p.Val1618Leu p.V1618L ENST00000392793 1618 Gtg/Ttg 0 Missense_Mutation G 36 TECTA SNP 11 G T 120536216 120536216 Broad SLC38A4 55089 broad.mit.edu GRCh37 12 47170716 47170716 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000447411.1:c.1145C>T p.Ala382Val p.A382V ENST00000447411 NM_001143824.1 382 gCc/gTc 0 Missense_Mutation G 42 SLC38A4 SNP 12 G A 45456983 45456983 Broad KMT2D 8085 broad.mit.edu GRCh37 12 49437653 49437653 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000301067.7:c.5317C>T p.Gln1773Ter p.Q1773* ENST00000301067 NM_003482.3 1773 Cag/Tag 0 Nonsense_Mutation G 46 MLL2 SNP 12 G A 47723920 47723920 Broad SCN8A 6334 broad.mit.edu GRCh37 12 52200932 52200932 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000354534.6:c.5662A>T p.Thr1888Ser p.T1888S ENST00000354534 NM_014191.3 1888 Acc/Tcc 0 Missense_Mutation A 2 SCN8A SNP 12 A T 50487199 50487199 Broad ACVR1B 91 broad.mit.edu GRCh37 12 52377951 52377951 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000541224.1:c.1102+1G>C p.X368_splice ENST00000541224 0 Splice_Site_SNP G 44 ACVR1B SNP 12 G C 50664218 50664218 Broad NCKAP1L 3071 broad.mit.edu GRCh37 12 54911344 54911344 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000293373.6:c.1123T>C p.Phe375Leu p.F375L ENST00000293373 NM_005337.4 375 Ttc/Ctc 0 Missense_Mutation T 56 NCKAP1L SNP 12 T C 53197611 53197611 Broad NACA 4666 broad.mit.edu GRCh37 12 57111914 57111914 + intron_variant Intron SNP G G A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000550952.1:c.1864+1407C>T *622* ENST00000550952 0 Missense_Mutation G 41 NACA SNP 12 G A 55398181 55398181 Broad XPOT 11260 broad.mit.edu GRCh37 12 64814261 64814261 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000332707.5:c.803G>C p.Cys268Ser p.C268S ENST00000332707 NM_007235.4 268 tGt/tCt 0 Missense_Mutation G 48 XPOT SNP 12 G C 63100528 63100528 Broad GOLGA3 2802 broad.mit.edu GRCh37 12 133365624 133365624 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000204726.3:c.2800A>G p.Thr934Ala p.T934A ENST00000204726 NM_005895.3 934 Aca/Gca 0 Missense_Mutation T 60 GOLGA3 SNP 12 T C 131875697 131875697 Broad ELF1 1997 broad.mit.edu GRCh37 13 41517221 41517221 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000239882.3:c.673C>G p.Pro225Ala p.P225A ENST00000239882 NM_172373.3 225 Cct/Gct 0 Missense_Mutation G 41 ELF1 SNP 13 G C 40415221 40415221 Broad OXGR1 27199 broad.mit.edu GRCh37 13 97639139 97639140 + missense_variant Missense_Mutation DNP GC GC AA novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000298440.1:c.874_875delinsTT p.Ala292Phe p.A292F ENST00000298440 NM_080818.3 292 GCt/TTt 0 Missense_Mutation GC 34 OXGR1 DNP 13 GC AA 96437141 96437140 Broad EDDM3B 64184 broad.mit.edu GRCh37 14 21238385 21238385 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000326783.3:c.76A>G p.Lys26Glu p.K26E ENST00000326783 NM_022360.4 26 Aaa/Gaa 0 Missense_Mutation A 5 EDDM3B SNP 14 A G 20308225 20308225 Broad SLC39A2 29986 broad.mit.edu GRCh37 14 21469412 21469412 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000298681.4:c.604C>T p.His202Tyr p.H202Y ENST00000298681 NM_014579.3 202 Cat/Tat 0 Missense_Mutation C 29 SLC39A2 SNP 14 C T 20539252 20539252 Broad MLH3 27030 broad.mit.edu GRCh37 14 75514887 75514887 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000355774.2:c.1472T>C p.Phe491Ser p.F491S ENST00000355774 NM_001040108.1 491 tTc/tCc 0 Missense_Mutation A 9 MLH3 SNP 14 A G 74584640 74584640 Broad CACNA1H 8912 broad.mit.edu GRCh37 16 1250529 1250529 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000348261.5:c.1077C>T p.Ile359= p.I359= ENST00000348261 NM_021098.2 359 atC/atT 0 Silent C 29 CACNA1H SNP 16 C T 1190530 1190530 Broad FBXO39 162517 broad.mit.edu GRCh37 17 6683691 6683691 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000321535.4:c.504C>A p.Asn168Lys p.N168K ENST00000321535 NM_153230.2 168 aaC/aaA 0 Missense_Mutation C 18 FBXO39 SNP 17 C A 6624415 6624415 Broad SLC47A2 146802 broad.mit.edu GRCh37 17 19610043 19610043 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000325411.5:c.867C>A p.Gly289= p.G289= ENST00000325411 NM_152908.3 289 ggC/ggA 0 Silent G 42 SLC47A2 SNP 17 G T 19550635 19550635 Broad FAM134C 162427 broad.mit.edu GRCh37 17 40737233 40737233 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000309428.5:c.637G>A p.Asp213Asn p.D213N ENST00000309428 NM_178126.3 213 Gat/Aat 0 Missense_Mutation C 30 FAM134C SNP 17 C T 37990759 37990759 Broad WNK4 65266 broad.mit.edu GRCh37 17 40948560 40948560 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000246914.5:c.3693C>G p.Ser1231Arg p.S1231R ENST00000246914 NM_032387.4 1231 agC/agG 0 Missense_Mutation C 25 WNK4 SNP 17 C G 38202086 38202086 Broad HDAC5 10014 broad.mit.edu GRCh37 17 42164917 42164917 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000225983.6:c.1750C>G p.Gln584Glu p.Q584E ENST00000225983 584 Cag/Gag 0 Missense_Mutation G 48 HDAC5 SNP 17 G C 39520443 39520443 Broad COIL 8161 broad.mit.edu GRCh37 17 55019486 55019486 + splice_acceptor_variant Splice_Site SNP T T A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000240316.4:c.1559-2A>T p.X520_splice ENST00000240316 NM_004645.2 0 Splice_Site_SNP T 55 COIL SNP 17 T A 52374485 52374485 Broad LAMA1 284217 broad.mit.edu GRCh37 18 7033075 7033075 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000389658.3:c.2071G>T p.Asp691Tyr p.D691Y ENST00000389658 NM_005559.3 691 Gac/Tac 0 Missense_Mutation C 30 LAMA1 SNP 18 C A 7023075 7023075 Broad LAMA3 3909 broad.mit.edu GRCh37 18 21438765 21438765 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000313654.9:c.4394G>A p.Cys1465Tyr p.C1465Y ENST00000313654 NM_198129.1 1465 tGt/tAt 0 Missense_Mutation G 48 LAMA3 SNP 18 G A 19692763 19692763 Broad MALT1 10892 broad.mit.edu GRCh37 18 56414870 56414870 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000348428.3:c.2271C>T p.Phe757= p.F757= ENST00000348428 NM_006785.3 757 ttC/ttT 0 Silent C 30 MALT1 SNP 18 C T 54565850 54565850 Broad INSR 3643 broad.mit.edu GRCh37 19 7117323 7117323 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000302850.5:c.3893T>C p.Phe1298Ser p.F1298S ENST00000302850 NM_000208.2 1298 tTt/tCt 0 Missense_Mutation A 1 INSR SNP 19 A G 7068323 7068323 Broad GADD45GIP1 90480 broad.mit.edu GRCh37 19 13065202 13065202 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000316939.1:c.489C>G p.Leu163= p.L163= ENST00000316939 NM_052850.3 163 ctC/ctG 0 Silent G 41 GADD45GIP1 SNP 19 G C 12926202 12926202 Broad EPS15L1 58513 broad.mit.edu GRCh37 19 16528758 16528758 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000455140.2:c.1107+1G>T p.X369_splice ENST00000455140 NM_001258374.1 0 Splice_Site_SNP C 18 EPS15L1 SNP 19 C A 16389758 16389758 Broad CPAMD8 27151 broad.mit.edu GRCh37 19 17091496 17091496 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 C A C C Unknown Valid Somatic x x 454_PCR_WGA x ENST00000443236.1:c.1537G>T p.Val513Phe p.V513F ENST00000443236 NM_015692.2 513 Gtt/Ttt 0 Missense_Mutation C 18 CPAMD8 SNP 19 C A 16952496 16952496 Broad ZNF99 7652 broad.mit.edu GRCh37 19 22941246 22941246 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000596209.1:c.1465G>T p.Ala489Ser p.A489S ENST00000596209 NM_001080409.2 489 Gct/Tct 0 Missense_Mutation C 28 ZNF99 SNP 19 C A 22733086 22733086 Broad RYR1 6261 broad.mit.edu GRCh37 19 39016137 39016137 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000359596.3:c.10621G>A p.Ala3541Thr p.A3541T ENST00000359596 3541 Gcc/Acc 0 Missense_Mutation G 38 RYR1 SNP 19 G A 43707977 43707977 Broad APOB 338 broad.mit.edu GRCh37 2 21226147 21226147 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000233242.1:c.12147T>A p.Asp4049Glu p.D4049E ENST00000233242 NM_000384.2 4049 gaT/gaA 0 Missense_Mutation A 8 APOB SNP 2 A T 21079652 21079652 Broad MTIF2 4528 broad.mit.edu GRCh37 2 55473531 55473531 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000394600.3:c.1048G>T p.Asp350Tyr p.D350Y ENST00000394600 NM_001005369.1 350 Gat/Tat 0 Missense_Mutation C 32 MTIF2 SNP 2 C A 55327035 55327035 Broad EIF2AK3 9451 broad.mit.edu GRCh37 2 88890440 88890440 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000303236.3:c.898G>C p.Glu300Gln p.E300Q ENST00000303236 NM_004836.5 300 Gaa/Caa 0 Missense_Mutation C 32 EIF2AK3 SNP 2 C G 88671555 88671555 Broad GCC2 9648 broad.mit.edu GRCh37 2 109087719 109087719 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000309863.6:c.1934T>G p.Val645Gly p.V645G ENST00000309863 NM_181453.3 645 gTa/gGa 0 Missense_Mutation T 57 GCC2 SNP 2 T G 108454151 108454151 Broad IL36G 56300 broad.mit.edu GRCh37 2 113742455 113742455 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000259205.4:c.339C>A p.Pro113= p.P113= ENST00000259205 NM_019618.3 113 ccC/ccA 0 Silent C 23 IL1F9 SNP 2 C A 113458926 113458926 Broad MBD5 55777 broad.mit.edu GRCh37 2 149247144 149247144 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000407073.1:c.3244G>T p.Asp1082Tyr p.D1082Y ENST00000407073 NM_018328.4 1082 Gat/Tat 0 Missense_Mutation G 45 MBD5 SNP 2 G T 148963614 148963614 Broad PIKFYVE 200576 broad.mit.edu GRCh37 2 209200596 209200596 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264380.4:c.4336A>T p.Lys1446Ter p.K1446* ENST00000264380 NM_015040.3 1446 Aaa/Taa 0 Nonsense_Mutation A 1 PIKFYVE SNP 2 A T 208908841 208908841 Broad SPHKAP 80309 broad.mit.edu GRCh37 2 228881409 228881409 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000392056.3:c.4161G>A p.Leu1387= p.L1387= ENST00000392056 NM_001142644.1 1387 ttG/ttA 0 Silent C 29 SPHKAP SNP 2 C T 228589653 228589653 Broad DTD1 92675 broad.mit.edu GRCh37 20 18576815 18576815 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000377452.3:c.300G>A p.Glu100= p.E100= ENST00000377452 NM_080820.4 100 gaG/gaA 0 Silent G 34 DTD1 SNP 20 G A 18524815 18524815 Broad ZNF341 84905 broad.mit.edu GRCh37 20 32371641 32371641 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000342427.2:c.1802A>G p.Tyr601Cys p.Y601C ENST00000342427 NM_032819.3 601 tAt/tGt 0 Missense_Mutation A 16 ZNF341 SNP 20 A G 31835302 31835302 Broad RBM12 10137 broad.mit.edu GRCh37 20 34242182 34242182 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000374114.3:c.1063G>A p.Asp355Asn p.D355N ENST00000374114 NM_001198838.1 355 Gat/Aat 0 Missense_Mutation C 32 RBM12 SNP 20 C T 33705596 33705596 Broad HNF4A 3172 broad.mit.edu GRCh37 20 43057024 43057024 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000316099.4:c.1179G>A p.Leu393= p.L393= ENST00000316099 NM_001258355.1 393 ctG/ctA 0 Silent G 45 HNF4A SNP 20 G A 42490438 42490438 Broad PREX1 57580 broad.mit.edu GRCh37 20 47324880 47324880 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000371941.3:c.701G>T p.Cys234Phe p.C234F ENST00000371941 NM_020820.3 234 tGc/tTc 0 Missense_Mutation C 25 PREX1 SNP 20 C A 46758287 46758287 Broad RSPH1 89765 broad.mit.edu GRCh37 21 43892958 43892958 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000291536.3:c.900A>G p.Glu300= p.E300= ENST00000291536 NM_080860.2 300 gaA/gaG 0 Silent T 56 RSPH1 SNP 21 T C 42766027 42766027 Broad TRIOBP 11078 broad.mit.edu GRCh37 22 38121000 38121000 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000406386.3:c.2437G>A p.Asp813Asn p.D813N ENST00000406386 NM_001039141.2 813 Gac/Aac 0 Missense_Mutation G 41 TRIOBP SNP 22 G A 36450946 36450946 Broad GRM7 2917 broad.mit.edu GRCh37 3 7456806 7456806 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000357716.4:c.1130C>T p.Thr377Met p.T377M ENST00000357716 NM_000844.3 377 aCg/aTg 0 Missense_Mutation C 19 GRM7 SNP 3 C T 7431806 7431806 Broad FGD5 152273 broad.mit.edu GRCh37 3 14862160 14862160 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000285046.5:c.1582G>C p.Gly528Arg p.G528R ENST00000285046 NM_152536.3 528 Ggg/Cgg 0 Missense_Mutation G 43 FGD5 SNP 3 G C 14837164 14837164 Broad MYH15 22989 broad.mit.edu GRCh37 3 108112940 108112940 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000273353.3:c.5257G>A p.Ala1753Thr p.A1753T ENST00000273353 NM_014981.1 1753 Gct/Act 0 Missense_Mutation C 28 MYH15 SNP 3 C T 109595630 109595630 Broad PARP15 165631 broad.mit.edu GRCh37 3 122354024 122354024 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000464300.2:c.1730G>A p.Ser577Asn p.S577N ENST00000464300 NM_001113523.1 577 aGt/aAt 0 Missense_Mutation G 36 PARP15 SNP 3 G A 123836714 123836714 Broad PARP14 54625 broad.mit.edu GRCh37 3 122422732 122422732 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000474629.2:c.3225A>T p.Thr1075= p.T1075= ENST00000474629 NM_017554.2 1075 acA/acT 0 Silent A 7 PARP14 SNP 3 A T 123905422 123905422 Broad RPN1 6184 broad.mit.edu GRCh37 3 128344411 128344411 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000296255.3:c.1361T>C p.Ile454Thr p.I454T ENST00000296255 NM_002950.3 454 aTc/aCc 0 Missense_Mutation A 12 RPN1 SNP 3 A G 129827101 129827101 Broad KIAA0232 9778 broad.mit.edu GRCh37 4 6862992 6862992 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000307659.5:c.883G>T p.Ala295Ser p.A295S ENST00000307659 NM_014743.2 295 Gca/Tca 0 Missense_Mutation G 34 KIAA0232 SNP 4 G T 6913893 6913893 Broad HERC5 51191 broad.mit.edu GRCh37 4 89425453 89425453 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000264350.3:c.2653C>T p.Arg885Trp p.R885W ENST00000264350 NM_016323.3 885 Cgg/Tgg 0 Missense_Mutation C 31 HERC5 SNP 4 C T 89644476 89644476 Broad MAML3 55534 broad.mit.edu GRCh37 4 140811328 140811328 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000509479.2:c.1262C>G p.Pro421Arg p.P421R ENST00000509479 NM_018717.4 421 cCa/cGa 0 Missense_Mutation G 47 MAML3 SNP 4 G C 141030778 141030778 Broad PLCXD3 345557 broad.mit.edu GRCh37 5 41382241 41382241 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000377801.3:c.499G>A p.Gly167Arg p.G167R ENST00000377801 167 Gga/Aga 0 Missense_Mutation C 21 PLCXD3 SNP 5 C T 41417998 41417998 Broad NSA2 10412 broad.mit.edu GRCh37 5 74066518 74066518 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000296802.5:c.405T>C p.Val135= p.V135= ENST00000296802 NM_014886.4 135 gtT/gtC 0 Silent T 61 NSA2 SNP 5 T C 74102274 74102274 Broad POLK 51426 broad.mit.edu GRCh37 5 74865203 74865203 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000241436.4:c.294T>C p.Asn98= p.N98= ENST00000241436 NM_016218.2 98 aaT/aaC 0 Silent T 52 POLK SNP 5 T C 74900959 74900959 Broad GABRA6 2559 broad.mit.edu GRCh37 5 161117309 161117309 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000274545.5:c.776A>G p.Gln259Arg p.Q259R ENST00000274545 259 cAg/cGg 0 Missense_Mutation A 7 GABRA6 SNP 5 A G 161049887 161049887 Broad TENM2 57451 broad.mit.edu GRCh37 5 167674817 167674817 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000518659.1:c.6873C>G p.Asn2291Lys p.N2291K ENST00000518659 NM_001122679.1 2291 aaC/aaG 0 Missense_Mutation C 17 ODZ2 SNP 5 C G 167607395 167607395 Broad PANK3 79646 broad.mit.edu GRCh37 5 167991007 167991007 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000239231.6:c.699G>C p.Glu233Asp p.E233D ENST00000239231 NM_024594.3 233 gaG/gaC 0 Missense_Mutation C 24 PANK3 SNP 5 C G 167923585 167923585 Broad MSH5 4439 broad.mit.edu GRCh37 6 31727723 31727723 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000375703.3:c.1656A>G p.Gln552= p.Q552= ENST00000375703 552 caA/caG 0 Silent A 3 MSH5 SNP 6 A G 31835702 31835702 Broad ITPR3 3710 broad.mit.edu GRCh37 6 33648441 33648441 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000374316.5:c.4460A>G p.Asn1487Ser p.N1487S ENST00000374316 1487 aAc/aGc 0 Missense_Mutation A 2 ITPR3 SNP 6 A G 33756419 33756419 Broad HTR1E 3354 broad.mit.edu GRCh37 6 87725198 87725198 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000305344.5:c.146C>A p.Thr49Asn p.T49N ENST00000305344 NM_000865.2 49 aCc/aAc 0 Missense_Mutation C 18 HTR1E SNP 6 C A 87781917 87781917 Broad PDE10A 10846 broad.mit.edu GRCh37 6 165827029 165827029 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000539869.2:c.1238T>G p.Met413Arg p.M413R ENST00000539869 NM_001130690.2 413 aTg/aGg 0 Missense_Mutation A 8 PDE10A SNP 6 A C 165747019 165747019 Broad INTS1 26173 broad.mit.edu GRCh37 7 1539883 1539883 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000404767.3:c.469G>T p.Asp157Tyr p.D157Y ENST00000404767 NM_001080453.2 157 Gac/Tac 0 Missense_Mutation C 29 INTS1 SNP 7 C A 1506409 1506409 Broad PSMA2 5683 broad.mit.edu GRCh37 7 42964387 42964387 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000223321.4:c.261G>A p.Val87= p.V87= ENST00000223321 NM_002787.4 87 gtG/gtA 0 Silent C 25 PSMA2 SNP 7 C T 42930912 42930912 Broad URGCP 55665 broad.mit.edu GRCh37 7 43917886 43917886 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000453200.1:c.1176G>A p.Gly392= p.G392= ENST00000453200 392 ggG/ggA 0 Silent C 30 URGCP SNP 7 C T 43884411 43884411 Broad RABGEF1 27342 broad.mit.edu GRCh37 7 66270245 66270245 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000284957.5:c.939T>C p.Asp313= p.D313= ENST00000284957 NM_001287062.1 313 gaT/gaC 0 Silent T 51 RABGEF1 SNP 7 T C 65907680 65907680 Broad RP1L1 94137 broad.mit.edu GRCh37 8 10466183 10466183 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000382483.3:c.5425G>A p.Gly1809Arg p.G1809R ENST00000382483 NM_178857.5 1809 Ggg/Agg 0 Missense_Mutation C 21 RP1L1 SNP 8 C T 10503593 10503593 Broad IDO2 169355 broad.mit.edu GRCh37 8 39806756 39806756 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000502986.2:c.111G>T p.Glu37Asp p.E37D ENST00000502986 NM_194294.2 37 gaG/gaT 0 Missense_Mutation G 36 IDO2 SNP 8 G T 39925913 39925913 Broad PXDNL 137902 broad.mit.edu GRCh37 8 52320807 52320807 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000356297.4:c.3377T>C p.Leu1126Pro p.L1126P ENST00000356297 NM_144651.4 1126 cTc/cCc 0 Missense_Mutation A 11 PXDNL SNP 8 A G 52483360 52483360 Broad ASAP1 50807 broad.mit.edu GRCh37 8 131127887 131127887 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000357668.1:c.2159A>G p.Asp720Gly p.D720G ENST00000357668 720 gAt/gGt 0 Missense_Mutation T 50 ASAP1 SNP 8 T C 131197069 131197069 Broad PHF2 5253 broad.mit.edu GRCh37 9 96416841 96416841 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000359246.4:c.936C>T p.Thr312= p.T312= ENST00000359246 NM_005392.3 312 acC/acT 0 Silent C 22 PHF2 SNP 9 C T 95456662 95456662 Broad PHF8 23133 broad.mit.edu GRCh37 X 54011432 54011432 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000357988.5:c.2466G>C p.Trp822Cys p.W822C ENST00000357988 NM_001184896.1 822 tgG/tgC 0 Missense_Mutation C 30 PHF8 SNP 23 C G 54028157 54028157 Broad TRO 7216 broad.mit.edu GRCh37 X 54950145 54950145 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown x x x ENST00000173898.7:c.1180C>A p.Leu394Met p.L394M ENST00000173898 NM_001039705.2 394 Ctg/Atg 0 Missense_Mutation C 32 TRO SNP 23 C A 54966870 54966870 Broad BEX2 84707 broad.mit.edu GRCh37 X 102564881 102564881 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000536889.1:c.120G>A p.Ala40= p.A40= ENST00000536889 NM_001168400.1 40 gcG/gcA 0 Silent C 19 BEX2 SNP 23 C T 102451537 102451537 Broad DUSP9 1852 broad.mit.edu GRCh37 X 152915600 152915600 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000342782.3:c.995A>T p.Asn332Ile p.N332I ENST00000342782 332 aAc/aTc 0 Missense_Mutation A 2 DUSP9 SNP 23 A T 152568794 152568794 Broad TP53 7157 broad.mit.edu GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T rs11540652 byHapMap TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 Missense_Mutation C 23 TP53 SNP 17 C T 7518263 7518263 Broad SRRM2 23524 broad.mit.edu GRCh37 16 2813698 2813699 + frameshift_variant Frame_Shift_Ins INS - - TG novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000301740.8:c.3170_3171dup p.Lys1058Ter p.K1058* ENST00000301740 NM_016333.3 1057 ctg/cTGtg 0 Frame_Shift_Ins - 20 SRRM2 INS 16 TG - 2753700 2753699 Broad PTPRZ1 5803 broad.mit.edu GRCh37 7 121678888 121678888 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-24-0979-01 TCGA-24-0979-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000393386.2:c.5449del p.Glu1817AsnfsTer9 p.E1817Nfs*9 ENST00000393386 NM_001206838.1 1816 tGg/tg 0 Frame_Shift_Del G 47 PTPRZ1 DEL 7 - G 121466124 121466124 Broad KANK4 163782 broad.mit.edu GRCh37 1 62739538 62739538 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000371153.4:c.1238T>A p.Met413Lys p.M413K ENST00000371153 NM_181712.4 413 aTg/aAg 0 Missense_Mutation A 8 KANK4 SNP 1 A T 62512126 62512126 Broad MCOLN2 255231 broad.mit.edu GRCh37 1 85397198 85397198 + synonymous_variant Silent SNP A A G novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000370608.3:c.1389T>C p.Asp463= p.D463= ENST00000370608 NM_153259.2 463 gaT/gaC 0 Silent A 8 MCOLN2 SNP 1 A G 85169786 85169786 Broad RBM15 64783 broad.mit.edu GRCh37 1 110883715 110883715 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000369784.3:c.1688G>C p.Gly563Ala p.G563A ENST00000369784 NM_022768.4 563 gGt/gCt 0 Missense_Mutation G 44 RBM15 SNP 1 G C 110685238 110685238 Broad OR10J3 441911 broad.mit.edu GRCh37 1 159284220 159284220 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000332217.5:c.230C>A p.Ala77Asp p.A77D ENST00000332217 NM_001004467.1 77 gCc/gAc 0 Missense_Mutation G 42 OR10J3 SNP 1 G T 157550844 157550844 Broad TOR1AIP2 163590 broad.mit.edu GRCh37 1 179820119 179820119 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000367612.3:c.414C>G p.Ala138= p.A138= ENST00000367612 NM_145034.4 138 gcC/gcG 0 Silent G 43 TOR1AIP2 SNP 1 G C 178086742 178086742 Broad KIF21B 23046 broad.mit.edu GRCh37 1 200972807 200972807 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000422435.2:c.1119G>C p.Lys373Asn p.K373N ENST00000422435 NM_001252100.1 373 aaG/aaC 0 Missense_Mutation C 24 KIF21B SNP 1 C G 199239430 199239430 Broad CUL2 8453 broad.mit.edu GRCh37 10 35317783 35317783 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000537177.1:c.1629A>G p.Ser543= p.S543= ENST00000537177 NM_001198779.1 543 tcA/tcG 0 Silent T 51 CUL2 SNP 10 T C 35357789 35357789 Broad ERCC6 2074 broad.mit.edu GRCh37 10 50738887 50738887 + splice_acceptor_variant Splice_Site SNP C C A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000355832.5:c.423-1G>T p.X141_splice ENST00000355832 NM_000124.3 0 Splice_Site_SNP C 24 ERCC6 SNP 10 C A 50408893 50408893 Broad AGAP8 728404 broad.mit.edu GRCh37 10 51225050 51225050 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000425119.2:c.1932C>A p.Ala644= p.A644= ENST00000425119 NM_001077686.2 644 gcC/gcA 0 Silent G 35 AGAP8 SNP 10 G T 50895056 50895056 Broad ATRNL1 26033 broad.mit.edu GRCh37 10 117026310 117026310 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000355044.3:c.1809C>T p.Leu603= p.L603= ENST00000355044 NM_207303.2 603 ctC/ctT 0 Silent C 30 ATRNL1 SNP 10 C T 117016300 117016300 Broad OS9 10956 broad.mit.edu GRCh37 12 58112052 58112052 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000315970.7:c.1258G>C p.Asp420His p.D420H ENST00000315970 NM_006812.3 420 Gat/Cat 0 Missense_Mutation G 41 OS9 SNP 12 G C 56398319 56398319 Broad ATP12A 479 broad.mit.edu GRCh37 13 25274938 25274938 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000218548.6:c.1777G>T p.Asp593Tyr p.D593Y ENST00000218548 NM_001185085.1 593 Gac/Tac 0 Missense_Mutation G 45 ATP12A SNP 13 G T 24172938 24172938 Broad MYO16 23026 broad.mit.edu GRCh37 13 109793693 109793693 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000356711.2:c.5067C>T p.Ser1689= p.S1689= ENST00000356711 NM_015011.1 1689 tcC/tcT 0 Silent C 23 MYO16 SNP 13 C T 108591694 108591694 Broad GOLGA5 9950 broad.mit.edu GRCh37 14 93282749 93282749 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000163416.2:c.1474C>T p.Leu492Phe p.L492F ENST00000163416 NM_005113.3 492 Ctc/Ttc 0 Missense_Mutation C 28 GOLGA5 SNP 14 C T 92352502 92352502 Broad UNC79 57578 broad.mit.edu GRCh37 14 94109952 94109952 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000256339.4:c.5539G>C p.Gly1847Arg p.G1847R ENST00000256339 NM_020818.3 1847 Ggg/Cgg 0 Missense_Mutation G 47 KIAA1409 SNP 14 G C 93179705 93179705 Broad IQCH 64799 broad.mit.edu GRCh37 15 67786632 67786632 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000335894.4:c.2898C>T p.Thr966= p.T966= ENST00000335894 NM_001031715.2 966 acC/acT 0 Missense_Mutation C 24 IQCH SNP 15 C T 65573686 65573686 Broad BLM 641 broad.mit.edu GRCh37 15 91352450 91352450 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000355112.3:c.3835A>G p.Ile1279Val p.I1279V ENST00000355112 NM_000057.2 1279 Att/Gtt 0 Missense_Mutation A 12 BLM SNP 15 A G 89153454 89153454 Broad CCNF 899 broad.mit.edu GRCh37 16 2503300 2503300 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000397066.4:c.1577G>A p.Ser526Asn p.S526N ENST00000397066 NM_001761.2 526 aGc/aAc 0 Missense_Mutation G 34 CCNF SNP 16 G A 2443301 2443301 Broad TEKT5 146279 broad.mit.edu GRCh37 16 10721462 10721462 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000283025.2:c.1436C>T p.Pro479Leu p.P479L ENST00000283025 NM_144674.1 479 cCg/cTg 0 Missense_Mutation G 39 TEKT5 SNP 16 G A 10628963 10628963 Broad ITGAL 3683 broad.mit.edu GRCh37 16 30507443 30507443 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000356798.6:c.1529T>C p.Leu510Pro p.L510P ENST00000356798 NM_002209.2 510 cTg/cCg 0 Missense_Mutation T 55 ITGAL SNP 16 T C 30414944 30414944 Broad IRX6 79190 broad.mit.edu GRCh37 16 55361611 55361611 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000290552.7:c.527A>T p.Lys176Met p.K176M ENST00000290552 NM_024335.2 176 aAg/aTg 0 Missense_Mutation A 3 IRX6 SNP 16 A T 53919112 53919112 Broad GFOD2 81577 broad.mit.edu GRCh37 16 67719598 67719598 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000268797.7:c.21G>T p.Val7= p.V7= ENST00000268797 NM_030819.3 7 gtG/gtT 0 Silent C 21 GFOD2 SNP 16 C A 66277099 66277099 Broad DHODH 1723 broad.mit.edu GRCh37 16 72046163 72046163 + splice_donor_variant Splice_Site SNP T T A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000219240.4:c.234+2T>A p.X78_splice ENST00000219240 NM_001361.4 0 Splice_Site_SNP T 57 DHODH SNP 16 T A 70603664 70603664 Broad MYBBP1A 10514 broad.mit.edu GRCh37 17 4443019 4443019 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000381556.2:c.3678G>A p.Gly1226= p.G1226= ENST00000381556 NM_014520.3 1226 ggG/ggA 0 Silent C 30 MYBBP1A SNP 17 C T 4389768 4389768 Broad ZNF652 22834 broad.mit.edu GRCh37 17 47394440 47394440 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000362063.2:c.648T>A p.Ser216Arg p.S216R ENST00000362063 NM_014897.2 216 agT/agA 0 Missense_Mutation A 6 ZNF652 SNP 17 A T 44749439 44749439 Broad MYCBPAP 84073 broad.mit.edu GRCh37 17 48596059 48596059 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000323776.5:c.755G>C p.Arg252Pro p.R252P ENST00000323776 NM_032133.4 252 cGg/cCg 0 Missense_Mutation G 39 MYCBPAP SNP 17 G C 45951058 45951058 Broad ICAM2 3384 broad.mit.edu GRCh37 17 62082581 62082581 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000412356.1:c.214C>T p.Gln72Ter p.Q72* ENST00000412356 NM_001099786.1 72 Cag/Tag 0 Nonsense_Mutation G 48 ICAM2 SNP 17 G A 59436313 59436313 Broad BPTF 2186 broad.mit.edu GRCh37 17 65907750 65907750 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000306378.6:c.3750G>T p.Lys1250Asn p.K1250N ENST00000306378 NM_182641.3 1250 aaG/aaT 0 Missense_Mutation G 33 BPTF SNP 17 G T 63338212 63338212 Broad CLUL1 27098 broad.mit.edu GRCh37 18 645002 645002 + synonymous_variant Silent SNP C C G novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000400606.2:c.1302C>G p.Leu434= p.L434= ENST00000400606 NM_014410.4 434 ctC/ctG 0 Silent C 29 CLUL1 SNP 18 C G 635002 635002 Broad INSR 3643 broad.mit.edu GRCh37 19 7143008 7143008 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000302850.5:c.2361C>T p.Ser787= p.S787= ENST00000302850 NM_000208.2 787 agC/agT 0 Silent G 38 INSR SNP 19 G A 7094008 7094008 Broad EPOR 2057 broad.mit.edu GRCh37 19 11488790 11488790 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000222139.6:c.1397C>T p.Thr466Ile p.T466I ENST00000222139 NM_000121.3 466 aCt/aTt 0 Missense_Mutation G 36 EPOR SNP 19 G A 11349790 11349790 Broad DHX34 9704 broad.mit.edu GRCh37 19 47856442 47856442 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000328771.4:c.155A>T p.Gln52Leu p.Q52L ENST00000328771 NM_014681.5 52 cAg/cTg 0 Missense_Mutation A 7 DHX34 SNP 19 A T 52548282 52548282 Broad FAM179A 165186 broad.mit.edu GRCh37 2 29240042 29240042 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000379558.4:c.1067C>A p.Ser356Tyr p.S356Y ENST00000379558 NM_199280.2 356 tCt/tAt 0 Missense_Mutation C 32 FAM179A SNP 2 C A 29093546 29093546 Broad RIF1 55183 broad.mit.edu GRCh37 2 152293856 152293856 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000243326.5:c.1474G>C p.Asp492His p.D492H ENST00000243326 492 Gat/Cat 0 Missense_Mutation G 33 RIF1 SNP 2 G C 152002102 152002102 Broad MARS2 92935 broad.mit.edu GRCh37 2 198571020 198571020 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000282276.6:c.891C>G p.Phe297Leu p.F297L ENST00000282276 NM_138395.3 297 ttC/ttG 0 Missense_Mutation C 29 MARS2 SNP 2 C G 198279265 198279265 Broad UGT1A9 54600 broad.mit.edu GRCh37 2 234580975 234580975 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000354728.4:c.395A>T p.Lys132Ile p.K132I ENST00000354728 132 aAa/aTa 0 Missense_Mutation A 1 UGT1A9 SNP 2 A T 234245714 234245714 Broad SCLY 51540 broad.mit.edu GRCh37 2 239003059 239003059 + splice_acceptor_variant Splice_Site SNP A A C novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000254663.6:c.1030-2A>C p.X344_splice ENST00000254663 NM_016510.5 0 Splice_Site_SNP A 7 SCLY SNP 2 A C 238667798 238667798 Broad SYCP2 10388 broad.mit.edu GRCh37 20 58448984 58448984 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000357552.3:c.3482C>T p.Ser1161Leu p.S1161L ENST00000357552 1161 tCa/tTa 0 Missense_Mutation G 45 SYCP2 SNP 20 G A 57882379 57882379 Broad PIWIL3 440822 broad.mit.edu GRCh37 22 25150089 25150089 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000332271.5:c.869G>C p.Arg290Pro p.R290P ENST00000332271 NM_001255975.1 290 cGa/cCa 0 Missense_Mutation C 31 PIWIL3 SNP 22 C G 23480089 23480089 Broad PLXNB1 5364 broad.mit.edu GRCh37 3 48461039 48461039 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000358536.4:c.2656A>G p.Ile886Val p.I886V ENST00000358536 NM_002673.4 886 Atc/Gtc 0 Missense_Mutation T 51 PLXNB1 SNP 3 T C 48436043 48436043 Broad EPHB1 2047 broad.mit.edu GRCh37 3 134670615 134670615 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000398015.3:c.526G>A p.Ala176Thr p.A176T ENST00000398015 NM_004441.4 176 Gct/Act 0 Missense_Mutation G 38 EPHB1 SNP 3 G A 136153305 136153305 Broad NLGN1 22871 broad.mit.edu GRCh37 3 173525589 173525589 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000457714.1:c.613G>C p.Val205Leu p.V205L ENST00000457714 NM_014932.3 205 Gtc/Ctc 0 Missense_Mutation G 40 NLGN1 SNP 3 G C 175008283 175008283 Broad BDH1 622 broad.mit.edu GRCh37 3 197273238 197273238 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000392379.1:c.77G>T p.Gly26Val p.G26V ENST00000392379 NM_203314.2 26 gGa/gTa 0 Missense_Mutation C 30 BDH1 SNP 3 C A 198757635 198757635 Broad GPRIN3 285513 broad.mit.edu GRCh37 4 90170082 90170082 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000609438.1:c.1180A>G p.Ile394Val p.I394V ENST00000609438 NM_198281.2 394 Att/Gtt 0 Missense_Mutation T 51 GPRIN3 SNP 4 T C 90389105 90389105 Broad SEC24B 10427 broad.mit.edu GRCh37 4 110427528 110427528 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000265175.5:c.1533G>A p.Leu511= p.L511= ENST00000265175 NM_006323.2 511 ttG/ttA 0 Silent G 45 SEC24B SNP 4 G A 110646977 110646977 Broad BBS7 55212 broad.mit.edu GRCh37 4 122770081 122770081 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000264499.4:c.852G>C p.Met284Ile p.M284I ENST00000264499 NM_176824.2 284 atG/atC 0 Missense_Mutation C 17 BBS7 SNP 4 C G 122989531 122989531 Broad NNT 23530 broad.mit.edu GRCh37 5 43656057 43656057 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000264663.5:c.2175A>T p.Glu725Asp p.E725D ENST00000264663 NM_012343.3 725 gaA/gaT 0 Missense_Mutation A 4 NNT SNP 5 A T 43691814 43691814 Broad GTF2H4 2968 broad.mit.edu GRCh37 6 30880175 30880175 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000259895.4:c.1029G>T p.Val343= p.V343= ENST00000259895 NM_001517.4 343 gtG/gtT 0 Silent G 47 GTF2H4 SNP 6 G T 30988154 30988154 Broad DOPEY1 23033 broad.mit.edu GRCh37 6 83863932 83863932 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000349129.2:c.6423T>A p.His2141Gln p.H2141Q ENST00000349129 NM_015018.3 2141 caT/caA 0 Missense_Mutation T 51 DOPEY1 SNP 6 T A 83920651 83920651 Broad SYNE1 23345 broad.mit.edu GRCh37 6 152558073 152558073 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000367255.5:c.20078A>G p.His6693Arg p.H6693R ENST00000367255 NM_182961.3 6693 cAt/cGt 0 Missense_Mutation T 51 SYNE1 SNP 6 T C 152599766 152599766 Broad WDR27 253769 broad.mit.edu GRCh37 6 170059616 170059616 + splice_acceptor_variant Splice_Site SNP T T G novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000448612.1:c.1130-2A>C p.X377_splice ENST00000448612 NM_182552.4 0 Splice_Site_SNP T 56 WDR27 SNP 6 T G 169801541 169801541 Broad HGF 3082 broad.mit.edu GRCh37 7 81358974 81358974 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000222390.5:c.987G>A p.Trp329Ter p.W329* ENST00000222390 NM_000601.4 329 tgG/tgA 0 Nonsense_Mutation C 22 HGF SNP 7 C T 81196910 81196910 Broad CNTNAP2 26047 broad.mit.edu GRCh37 7 147336299 147336299 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000361727.3:c.1999G>A p.Ala667Thr p.A667T ENST00000361727 NM_014141.5 667 Gcc/Acc 0 Missense_Mutation G 38 CNTNAP2 SNP 7 G A 146967232 146967232 Broad LONRF1 91694 broad.mit.edu GRCh37 8 12580616 12580616 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000398246.3:c.2311C>A p.Gln771Lys p.Q771K ENST00000398246 NM_152271.3 771 Caa/Aaa 0 Missense_Mutation G 47 LONRF1 SNP 8 G T 12624987 12624987 Broad TOPORS 10210 broad.mit.edu GRCh37 9 32543969 32543969 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000360538.2:c.554C>A p.Thr185Lys p.T185K ENST00000360538 NM_005802.4 185 aCa/aAa 0 Missense_Mutation G 48 TOPORS SNP 9 G T 32533969 32533969 Broad COL15A1 1306 broad.mit.edu GRCh37 9 101829309 101829309 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000375001.3:c.3797G>T p.Arg1266Met p.R1266M ENST00000375001 NM_001855.4 1266 aGg/aTg 0 Missense_Mutation G 35 COL15A1 SNP 9 G T 100869130 100869130 Broad PRRC2B 84726 broad.mit.edu GRCh37 9 134308049 134308049 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000357304.4:c.161C>A p.Ala54Asp p.A54D ENST00000357304 NM_013318.3 54 gCc/gAc 0 Missense_Mutation C 26 BAT2L1 SNP 9 C A 133297870 133297870 Broad KLHL34 257240 broad.mit.edu GRCh37 X 21674250 21674250 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000379499.2:c.1657C>G p.Arg553Gly p.R553G ENST00000379499 NM_153270.1 553 Cgg/Ggg 0 Missense_Mutation G 37 KLHL34 SNP 23 G C 21584171 21584171 Broad SMS 6611 broad.mit.edu GRCh37 X 21995350 21995350 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000404933.2:c.501T>C p.Asp167= p.D167= ENST00000404933 NM_004595.4 167 gaT/gaC 0 Silent T 51 SMS SNP 23 T C 21905271 21905271 Broad OGT 8473 broad.mit.edu GRCh37 X 70777085 70777085 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown x x x ENST00000373719.3:c.1361C>A p.Thr454Lys p.T454K ENST00000373719 NM_181673.2 454 aCg/aAg 0 Missense_Mutation C 19 OGT SNP 23 C A 70693810 70693810 Broad TP53 7157 broad.mit.edu GRCh37 17 7579335 7579336 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-61-2008-01 TCGA-61-2008-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.351dup p.Thr118AspfsTer31 p.T118Dfs*31 ENST00000269305 NM_001126112.2 117 -/G 0 Frame_Shift_Ins - 58 TP53 INS 17 C - 7520061 7520060 Broad ABCF1 23 hgsc.bcm.edu GRCh37 6 30553726 30553726 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000326195.8:c.1671G>C p.Lys557Asn p.K557N ENST00000326195 NM_001025091.1 557 aaG/aaC 0 Missense_Mutation G 34 ABCF1 SNP 6 G C 30661705 30661705 Baylor ADAM12 8038 hgsc.bcm.edu GRCh37 10 127753556 127753556 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368679.4:c.1437A>T p.Gly479= p.G479= ENST00000368679 NM_003474.4 479 ggA/ggT 0 Silent T 62 ADAM12 SNP 10 T A 127743546 127743546 Baylor ADAM8 101 hgsc.bcm.edu GRCh37 10 135076677 135076678 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000445355.3:c.2457dup p.Ala820SerfsTer41 p.A820Sfs*41 ENST00000445355 NM_001109.4 819 -/A 0 Frame_Shift_Ins - 28 ADAM8 INS 10 - T 134926669 134926668 Baylor AP3B2 8120 hgsc.bcm.edu GRCh37 15 83348495 83348495 + missense_variant Missense_Mutation SNP T T C rs28581493 Unknown TCGA-13-0717-01 TCGA-13-0717-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261722.3:c.1168A>G p.Ile390Val p.I390V ENST00000261722 NM_004644.4 390 Att/Gtt 0 Missense_Mutation T 52 AP3B2 SNP 15 T C 81145550 81145550 Baylor ARID1B 57492 hgsc.bcm.edu GRCh37 6 157527996 157527997 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000346085.5:c.5721_5722insT p.Gln1908SerfsTer36 p.Q1908Sfs*36 ENST00000346085 NM_020732.3 1907 -/T 0 Frame_Shift_Ins - 30 ARID1B INS 6 - T 157569689 157569688 Baylor ARID1B 57492 hgsc.bcm.edu GRCh37 6 157528001 157528001 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000346085.5:c.5726A>C p.Gln1909Pro p.Q1909P ENST00000346085 NM_020732.3 1909 cAa/cCa 0 Missense_Mutation A 5 ARID1B SNP 6 A C 157569693 157569693 Baylor ASCC3 10973 hgsc.bcm.edu GRCh37 6 100965891 100965891 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000369162.2:c.5903A>G p.Glu1968Gly p.E1968G ENST00000369162 NM_006828.2 1968 gAa/gGa 0 Missense_Mutation T 62 ASCC3 SNP 6 T C 101072612 101072612 Baylor ASTE1 28990 hgsc.bcm.edu GRCh37 3 130733047 130733047 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264992.3:c.1894delA p.Arg632GlyfsTer33 p.R632Gfs*33 ENST00000264992 NM_014065.2 632 Agg/gg 0 Frame_Shift_Del T 56 ASTE1 DEL 3 T - 132215737 132215737 Baylor PRRC2B 84726 hgsc.bcm.edu GRCh37 9 134358766 134358766 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357304.4:c.5394A>T p.Pro1798= p.P1798= ENST00000357304 NM_013318.3 1798 ccA/ccT 0 Silent A 6 BAT2L1 SNP 9 A T 133348587 133348587 Baylor LAMTOR1 55004 hgsc.bcm.edu GRCh37 11 71809888 71809888 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000278671.5:c.205T>A p.Ser69Thr p.S69T ENST00000278671 NM_017907.2 69 Tct/Act 0 Missense_Mutation A 10 C11orf59 SNP 11 A T 71487536 71487536 Baylor CACNA1G 8913 hgsc.bcm.edu GRCh37 17 48678091 48678091 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359106.5:c.3695A>G p.Lys1232Arg p.K1232R ENST00000359106 NM_018896.4 1232 aAa/aGa 0 Missense_Mutation A 1 CACNA1G SNP 17 A G 46033090 46033090 Baylor CCNA1 8900 hgsc.bcm.edu GRCh37 13 37015329 37015329 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000255465.4:c.1173T>A p.Ala391= p.A391= ENST00000255465 391 gcT/gcA 0 Silent T 56 CCNA1 SNP 13 T A 35913329 35913329 Baylor CHD4 1108 hgsc.bcm.edu GRCh37 12 6710554 6710554 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357008.2:c.700G>T p.Val234Leu p.V234L ENST00000357008 NM_001273.2 234 Gta/Tta 0 Missense_Mutation C 18 CHD4 SNP 12 C A 6580815 6580815 Baylor CNTN6 27255 hgsc.bcm.edu GRCh37 3 1424790 1424790 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000446702.2:c.2331A>T p.Lys777Asn p.K777N ENST00000446702 777 aaA/aaT 0 Missense_Mutation A 3 CNTN6 SNP 3 A T 1399790 1399790 Baylor DCHS2 54798 hgsc.bcm.edu GRCh37 4 155155778 155155778 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357232.4:c.8661G>C p.Leu2887Phe p.L2887F ENST00000357232 NM_017639.3 2887 ttG/ttC 0 Missense_Mutation C 17 DCHS2 SNP 4 C G 155375228 155375228 Baylor DIP2B 57609 hgsc.bcm.edu GRCh37 12 51097921 51097921 + splice_acceptor_variant Splice_Site SNP A A T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000301180.5:c.2326-2A>T p.X776_splice ENST00000301180 NM_173602.2 0 Splice_Site_SNP A 15 DIP2B SNP 12 A T 49384188 49384188 Baylor EGFR 1956 hgsc.bcm.edu GRCh37 7 55259458 55259458 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000275493.2:c.2516C>T p.Ala839Val p.A839V ENST00000275493 NM_005228.3 839 gCa/gTa 0 Missense_Mutation C 25 EGFR SNP 7 C T 55226952 55226952 Baylor EP400 57634 hgsc.bcm.edu GRCh37 12 132502845 132502845 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000389561.2:c.4201C>T p.Arg1401Trp p.R1401W ENST00000389561 NM_015409.4 1401 Cgg/Tgg 0 Missense_Mutation C 27 EP400 SNP 12 C T 131068798 131068798 Baylor MROH5 389690 hgsc.bcm.edu GRCh37 8 142476593 142476593 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000430863.1:c.2393C>A p.Thr798Asn p.T798N ENST00000430863 NM_207414.2 798 aCc/aAc 0 Missense_Mutation G 44 FLJ43860 SNP 8 G T 142545775 142545775 Baylor FLNC 2318 hgsc.bcm.edu GRCh37 7 128493544 128493544 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000325888.8:c.6230G>T p.Ser2077Ile p.S2077I ENST00000325888 NM_001458.4 2077 aGt/aTt 0 Missense_Mutation G 36 FLNC SNP 7 G T 128280780 128280780 Baylor GREB1 9687 hgsc.bcm.edu GRCh37 2 11725903 11725903 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381486.2:c.1031C>A p.Ser344Tyr p.S344Y ENST00000381486 NM_014668.3 344 tCc/tAc 0 Missense_Mutation C 30 GREB1 SNP 2 C A 11643354 11643354 Baylor HPS3 84343 hgsc.bcm.edu GRCh37 3 148868392 148868392 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000296051.2:c.1170C>T p.Asn390= p.N390= ENST00000296051 NM_032383.3 390 aaC/aaT 0 Silent C 18 HPS3 SNP 3 C T 150351082 150351082 Baylor IL20RA 53832 hgsc.bcm.edu GRCh37 6 137323042 137323042 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000316649.5:c.1315G>A p.Ala439Thr p.A439T ENST00000316649 NM_014432.3 439 Gca/Aca 0 Missense_Mutation C 26 IL20RA SNP 6 C T 137364735 137364735 Baylor ITGB7 3695 hgsc.bcm.edu GRCh37 12 53591327 53591327 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000267082.5:c.524G>C p.Gly175Ala p.G175A ENST00000267082 NM_000889.1 175 gGg/gCg 0 Missense_Mutation C 22 ITGB7 SNP 12 C G 51877594 51877594 Baylor KLF15 28999 hgsc.bcm.edu GRCh37 3 126071521 126071521 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000296233.3:c.245C>G p.Ser82Cys p.S82C ENST00000296233 NM_014079.3 82 tCc/tGc 0 Missense_Mutation G 41 KLF15 SNP 3 C C 127554211 127554211 Baylor MUC4 4585 hgsc.bcm.edu GRCh37 3 195480011 195480011 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000463781.3:c.15419G>A p.Gly5140Asp p.G5140D ENST00000463781 NM_018406.6 5140 gGc/gAc 0 Missense_Mutation C 26 MUC4 SNP 3 C T 196965682 196965682 Baylor NMUR2 56923 hgsc.bcm.edu GRCh37 5 151784061 151784061 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000255262.3:c.614C>T p.Thr205Met p.T205M ENST00000255262 NM_020167.4 205 aCg/aTg 0 Missense_Mutation G 40 NMUR2 SNP 5 G A 151764254 151764254 Baylor NOS3 4846 hgsc.bcm.edu GRCh37 7 150699340 150699340 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000297494.3:c.1700T>C p.Val567Ala p.V567A ENST00000297494 NM_000603.4 567 gTg/gCg 0 Missense_Mutation T 59 NOS3 SNP 7 T C 150330273 150330273 Baylor OR52N5 390075 hgsc.bcm.edu GRCh37 11 5799652 5799652 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000317093.2:c.213delT p.Phe71LeufsTer59 p.F71Lfs*59 ENST00000317093 NM_001001922.2 71 ttT/tt 0 Frame_Shift_Del A 5 OR52N5 DEL 11 A - 5756228 5756228 Baylor OR9G4 283189 hgsc.bcm.edu GRCh37 11 56510545 56510545 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302957.3:c.743G>A p.Gly248Glu p.G248E ENST00000302957 NM_001005284.1 248 gGa/gAa 0 Missense_Mutation C 30 OR9G4 SNP 11 C T 56267121 56267121 Baylor PI4K2A 55361 hgsc.bcm.edu GRCh37 10 99416699 99416699 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370631.3:c.890T>C p.Leu297Ser p.L297S ENST00000370631 NM_018425.2 297 tTg/tCg 0 Missense_Mutation T 63 PI4K2A SNP 10 T C 99406689 99406689 Baylor PILRB 29990 hgsc.bcm.edu GRCh37 7 99957129 99957131 + inframe_deletion In_Frame_Del DEL CCT CCT - rs5886120 Unknown TCGA-13-0717-01 TCGA-13-0717-10 CCT CCT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000610247.1:c.633_635del p.Leu212del p.L212del ENST00000610247 208 tgCCTc/tgc 0 In_Frame_Del CCT 26 PILRB DEL 7 CCT - 99795067 99795065 Baylor PRSS35 167681 hgsc.bcm.edu GRCh37 6 84234349 84234349 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000536636.1:c.1189G>A p.Ala397Thr p.A397T ENST00000536636 NM_001170423.1 397 Gcc/Acc 0 Missense_Mutation G 38 PRSS35 SNP 6 G A 84291068 84291068 Baylor PTCH1 5727 hgsc.bcm.edu GRCh37 9 98239936 98239936 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000331920.6:c.1396C>G p.Gln466Glu p.Q466E ENST00000331920 NM_000264.3 466 Cag/Gag 0 Missense_Mutation G 47 PTCH1 SNP 9 G C 97279757 97279757 Baylor RRAD 6236 hgsc.bcm.edu GRCh37 16 66956141 66956141 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000299759.6:c.765G>C p.Arg255Ser p.R255S ENST00000299759 255 agG/agC 0 Missense_Mutation C 22 RRAD SNP 16 C G 65513642 65513642 Baylor SHISA3 152573 hgsc.bcm.edu GRCh37 4 42403147 42403147 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000319234.4:c.396G>C p.Gln132His p.Q132H ENST00000319234 NM_001080505.1 132 caG/caC 0 Missense_Mutation G 34 SHISA3 SNP 4 G C 42097904 42097904 Baylor SIPA1L2 57568 hgsc.bcm.edu GRCh37 1 232581296 232581296 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000366630.1:c.3332G>A p.Arg1111Gln p.R1111Q ENST00000366630 1111 cGg/cAg 0 Missense_Mutation C 23 SIPA1L2 SNP 1 C T 230647919 230647919 Baylor SLC12A6 9990 hgsc.bcm.edu GRCh37 15 34532906 34532906 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000354181.3:c.2392G>T p.Gly798Trp p.G798W ENST00000354181 798 Ggg/Tgg 0 Missense_Mutation C 22 SLC12A6 SNP 15 C A 32320198 32320198 Baylor SLC26A5 375611 hgsc.bcm.edu GRCh37 7 103018944 103018944 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000306312.3:c.1734C>T p.Tyr578= p.Y578= ENST00000306312 NM_198999.2 578 taC/taT 0 Silent G 40 SLC26A5 SNP 7 G A 102806180 102806180 Baylor SLC27A4 10999 hgsc.bcm.edu GRCh37 9 131117732 131117732 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000300456.4:c.1518G>T p.Gly506= p.G506= ENST00000300456 NM_005094.3 506 ggG/ggT 0 Silent G 43 SLC27A4 SNP 9 G T 130157553 130157553 Baylor SLC8A1 6546 hgsc.bcm.edu GRCh37 2 40392065 40392065 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000403092.1:c.2098del p.Glu700LysfsTer15 p.E700Kfs*15 ENST00000403092 700 Gaa/aa 0 Frame_Shift_Del C 32 SLC8A1 DEL 2 C - 40245569 40245569 Baylor SPEG 10290 hgsc.bcm.edu GRCh37 2 220315873 220315873 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000312358.7:c.2129C>A p.Ser710Tyr p.S710Y ENST00000312358 NM_005876.4 710 tCc/tAc 0 Missense_Mutation C 30 SPEG SNP 2 C A 220024117 220024117 Baylor TBX1 6899 hgsc.bcm.edu GRCh37 22 19752518 19752518 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000332710.4:c.722T>C p.Phe241Ser p.F241S ENST00000332710 NM_080647.1 241 tTc/tCc 0 Missense_Mutation T 62 TBX1 SNP 22 T C 18132518 18132518 Baylor TRPM1 4308 hgsc.bcm.edu GRCh37 15 31295171 31295171 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000542188.1:c.3783A>G p.Glu1261= p.E1261= ENST00000542188 NM_001252020.1 1261 gaA/gaG 0 Silent T 52 TRPM1 SNP 15 T C 29082463 29082463 Baylor NME8 51314 hgsc.bcm.edu GRCh37 7 37907457 37907457 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000199447.4:c.775G>A p.Glu259Lys p.E259K ENST00000199447 NM_016616.4 259 Gaa/Aaa 0 Missense_Mutation G 37 TXNDC3 SNP 7 G A 37873982 37873982 Baylor UBR4 23352 hgsc.bcm.edu GRCh37 1 19518749 19518749 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375254.3:c.1327C>T p.Arg443Ter p.R443* ENST00000375254 NM_020765.2 443 Cga/Tga 0 Nonsense_Mutation G 39 UBR4 SNP 1 G A 19391336 19391336 Baylor ULK4 54986 hgsc.bcm.edu GRCh37 3 41860985 41860985 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000301831.4:c.1778delA p.Lys593ArgfsTer17 p.K593Rfs*17 ENST00000301831 NM_017886.2 593 aAg/ag 0 Frame_Shift_Del T 56 ULK4 DEL 3 T - 41835989 41835989 Baylor SUN1 23353 hgsc.bcm.edu GRCh37 7 897508 897508 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000401592.1:c.1438C>A p.Leu480Met p.L480M ENST00000401592 NM_001130965.2 480 Ctg/Atg 0 Missense_Mutation C 28 SUN1 SNP 7 C A 864034 864034 Baylor XPNPEP2 7512 hgsc.bcm.edu GRCh37 X 128886141 128886141 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371106.3:c.837G>T p.Lys279Asn p.K279N ENST00000371106 NM_003399.5 279 aaG/aaT 0 Missense_Mutation G 33 XPNPEP2 SNP 23 G T 128713822 128713822 Baylor ZRANB1 54764 hgsc.bcm.edu GRCh37 10 126673561 126673561 + frameshift_variant,stop_lost Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0717-01 TCGA-13-0717-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359653.4:c.*9delA *709fs ENST00000359653 NM_017580.2 709 tgA/tg 0 Frame_Shift_Del A 9 ZRANB1 DEL 10 A - 126663551 126663551 Baylor GABRD 2563 broad.mit.edu GRCh37 1 1961430 1961430 + synonymous_variant Silent SNP G G C novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000378585.4:c.1068G>C p.Val356= p.V356= ENST00000378585 NM_000815.4 356 gtG/gtC 0 Silent G 45 GABRD SNP 1 G C 1951290 1951290 Broad NES 10763 broad.mit.edu GRCh37 1 156640107 156640107 + synonymous_variant Silent SNP G G A novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000368223.3:c.3873C>T p.Leu1291= p.L1291= ENST00000368223 NM_006617.1 1291 ctC/ctT 0 Silent G 37 NES SNP 1 G A 154906731 154906731 Broad RC3H1 149041 broad.mit.edu GRCh37 1 173962095 173962095 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000367696.2:c.29A>T p.Asp10Val p.D10V ENST00000367696 10 gAt/gTt 0 Missense_Mutation T 50 RC3H1 SNP 1 T A 172228718 172228718 Broad ACBD6 84320 broad.mit.edu GRCh37 1 180257597 180257597 + synonymous_variant Silent SNP G G A novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000367595.3:c.750C>T p.Asp250= p.D250= ENST00000367595 NM_032360.3 250 gaC/gaT 0 Silent G 44 ACBD6 SNP 1 G A 178524220 178524220 Broad CENPF 1063 broad.mit.edu GRCh37 1 214813547 214813547 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000366955.3:c.1866G>A p.Trp622Ter p.W622* ENST00000366955 NM_016343.3 622 tgG/tgA 0 Nonsense_Mutation G 41 CENPF SNP 1 G A 212880170 212880170 Broad OPTN 10133 broad.mit.edu GRCh37 10 13167990 13167990 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000378748.3:c.1193A>C p.Gln398Pro p.Q398P ENST00000378748 NM_001008211.1 398 cAa/cCa 0 Missense_Mutation A 5 OPTN SNP 10 A C 13207996 13207996 Broad TTC17 55761 broad.mit.edu GRCh37 11 43418911 43418911 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000039989.4:c.788T>A p.Ile263Asn p.I263N ENST00000039989 NM_018259.5 263 aTt/aAt 0 Missense_Mutation T 52 TTC17 SNP 11 T A 43375487 43375487 Broad NOP2 4839 broad.mit.edu GRCh37 12 6673072 6673072 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000382421.3:c.614G>A p.Arg205Gln p.R205Q ENST00000382421 NM_001258309.1 205 cGg/cAg 0 Missense_Mutation C 23 NOP2 SNP 12 C T 6543333 6543333 Broad LOH12CR1 118426 broad.mit.edu GRCh37 12 12514215 12514215 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000314565.4:c.134G>A p.Arg45Gln p.R45Q ENST00000314565 NM_058169.3 45 cGg/cAg 0 Missense_Mutation G 39 LOH12CR1 SNP 12 G A 12405482 12405482 Broad C12orf60 144608 broad.mit.edu GRCh37 12 14976540 14976540 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000330828.2:c.671T>G p.Ile224Ser p.I224S ENST00000330828 NM_175874.3 224 aTc/aGc 0 Missense_Mutation T 50 C12orf60 SNP 12 T G 14867807 14867807 Broad AHNAK2 113146 broad.mit.edu GRCh37 14 105408700 105408700 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000333244.5:c.13088A>T p.Asp4363Val p.D4363V ENST00000333244 NM_138420.2 4363 gAt/gTt 0 Missense_Mutation T 50 AHNAK2 SNP 14 T A 104479745 104479745 Broad MYZAP 100820829 broad.mit.edu GRCh37 15 57910380 57910380 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000267853.5:c.312C>G p.Ile104Met p.I104M ENST00000267853 104 atC/atG 0 Missense_Mutation C 29 GCOM1 SNP 15 C G 55697672 55697672 Broad CDH15 1013 broad.mit.edu GRCh37 16 89256814 89256814 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000289746.2:c.1142G>A p.Arg381Gln p.R381Q ENST00000289746 NM_004933.2 381 cGg/cAg 0 Missense_Mutation G 39 CDH15 SNP 16 G A 87784315 87784315 Broad TCF25 22980 broad.mit.edu GRCh37 16 89958627 89958628 + missense_variant Missense_Mutation DNP CC CC TT novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000263346.8:c.641_642delinsTT p.Pro214Leu p.P214L ENST00000263346 NM_014972.2 214 cCC/cTT 0 Missense_Mutation CC 22 TCF25 DNP 16 CC TT 88486129 88486128 Broad NEURL4 84461 broad.mit.edu GRCh37 17 7228646 7228646 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000399464.2:c.1513G>A p.Gly505Ser p.G505S ENST00000399464 NM_032442.2 505 Ggt/Agt 0 Missense_Mutation C 22 NEURL4 SNP 17 C T 7169370 7169370 Broad TP53 7157 broad.mit.edu GRCh37 17 7577547 7577547 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.734G>A p.Gly245Asp p.G245D ENST00000269305 NM_001126112.2 245 gGc/gAc 0 Missense_Mutation C 26 TP53 SNP 17 C T 7518272 7518272 Broad ANGPTL4 51129 broad.mit.edu GRCh37 19 8436379 8436379 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000301455.2:c.1012G>T p.Asp338Tyr p.D338Y ENST00000301455 NM_139314.1 338 Gac/Tac 0 Missense_Mutation G 41 ANGPTL4 SNP 19 G T 8342379 8342379 Broad SPTBN4 57731 broad.mit.edu GRCh37 19 41038617 41038617 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000352632.3:c.4034G>A p.Arg1345Gln p.R1345Q ENST00000352632 1345 cGg/cAg 0 Missense_Mutation G 39 SPTBN4 SNP 19 G A 45730457 45730457 Broad ZNF749 388567 broad.mit.edu GRCh37 19 57955798 57955798 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000334181.4:c.1282C>G p.His428Asp p.H428D ENST00000334181 NM_001023561.2 428 Cat/Gat 0 Missense_Mutation C 25 ZNF749 SNP 19 C G 62647610 62647610 Broad KIDINS220 57498 broad.mit.edu GRCh37 2 8940569 8940569 + synonymous_variant Silent SNP C C T novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000256707.3:c.861G>A p.Ala287= p.A287= ENST00000256707 NM_020738.2 287 gcG/gcA 0 Silent C 27 KIDINS220 SNP 2 C T 8858020 8858020 Broad LRRTM4 80059 broad.mit.edu GRCh37 2 77745898 77745898 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000409093.1:c.1097T>C p.Val366Ala p.V366A ENST00000409093 366 gTc/gCc 0 Missense_Mutation A 10 LRRTM4 SNP 2 A G 77599406 77599406 Broad ORC4 5000 broad.mit.edu GRCh37 2 148693163 148693163 + synonymous_variant Silent SNP A A G novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000392857.5:c.1227T>C p.Thr409= p.T409= ENST00000392857 NM_001190882.2 409 acT/acC 0 Silent A 11 ORC4L SNP 2 A G 148409633 148409633 Broad ITGB6 3694 broad.mit.edu GRCh37 2 160994038 160994038 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000283249.2:c.1567A>G p.Ile523Val p.I523V ENST00000283249 NM_001282388.1 523 Atc/Gtc 0 Missense_Mutation T 49 ITGB6 SNP 2 T C 160702284 160702284 Broad UBOX5 22888 broad.mit.edu GRCh37 20 3090781 3090781 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000217173.2:c.1597A>G p.Ser533Gly p.S533G ENST00000217173 NM_001267584.1 533 Agc/Ggc 0 Missense_Mutation T 53 UBOX5 SNP 20 T C 3038781 3038781 Broad RBL1 5933 broad.mit.edu GRCh37 20 35635838 35635838 + synonymous_variant Silent SNP G G A novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000373664.3:c.2847C>T p.Tyr949= p.Y949= ENST00000373664 NM_002895.3 949 taC/taT 0 Silent G 40 RBL1 SNP 20 G A 35069252 35069252 Broad FAM83D 81610 broad.mit.edu GRCh37 20 37580954 37580954 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000217429.4:c.1639G>T p.Glu547Ter p.E547* ENST00000217429 NM_030919.2 547 Gaa/Taa 0 Nonsense_Mutation G 41 FAM83D SNP 20 G T 37014368 37014368 Broad BCAS1 8537 broad.mit.edu GRCh37 20 52591931 52591931 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000395961.3:c.1179G>T p.Glu393Asp p.E393D ENST00000395961 NM_003657.2 393 gaG/gaT 0 Missense_Mutation C 32 BCAS1 SNP 20 C A 52025338 52025338 Broad PRDM15 63977 broad.mit.edu GRCh37 21 43221763 43221763 + synonymous_variant Silent SNP C C T novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000269844.3:c.4161G>A p.Pro1387= p.P1387= ENST00000269844 NM_022115.3 1387 ccG/ccA 0 Silent C 23 PRDM15 SNP 21 C T 42094832 42094832 Broad TMPRSS3 64699 broad.mit.edu GRCh37 21 43795840 43795840 + synonymous_variant Silent SNP G G A novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000291532.3:c.1332C>T p.Ile444= p.I444= ENST00000291532 NM_032404.2 444 atC/atT 0 Silent G 41 TMPRSS3 SNP 21 G A 42668909 42668909 Broad SBF1 6305 broad.mit.edu GRCh37 22 50899659 50899659 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000380817.3:c.2896C>A p.Arg966Ser p.R966S ENST00000380817 NM_002972.2 966 Cgc/Agc 0 Missense_Mutation G 38 SBF1 SNP 22 G T 49246525 49246525 Broad TBC1D23 55773 broad.mit.edu GRCh37 3 100021074 100021074 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000394144.4:c.1256T>G p.Phe419Cys p.F419C ENST00000394144 NM_001199198.2 419 tTt/tGt 0 Missense_Mutation T 64 TBC1D23 SNP 3 T G 101503764 101503764 Broad COPG1 22820 broad.mit.edu GRCh37 3 128979574 128979574 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000314797.6:c.1052C>T p.Thr351Met p.T351M ENST00000314797 NM_016128.3 351 aCg/aTg 0 Missense_Mutation C 19 COPG SNP 3 C T 130462264 130462264 Broad COPG1 22820 broad.mit.edu GRCh37 3 128986812 128986812 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000314797.6:c.1577A>G p.Asp526Gly p.D526G ENST00000314797 NM_016128.3 526 gAc/gGc 0 Missense_Mutation A 10 COPG SNP 3 A G 130469502 130469502 Broad C4orf29 80167 broad.mit.edu GRCh37 4 128941248 128941248 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000398965.1:c.623C>T p.Ala208Val p.A208V ENST00000398965 NM_001039717.1 208 gCg/gTg 0 Missense_Mutation C 27 C4orf29 SNP 4 C T 129160698 129160698 Broad RICTOR 253260 broad.mit.edu GRCh37 5 38947495 38947495 + synonymous_variant Silent SNP C C T novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000357387.3:c.4185G>A p.Leu1395= p.L1395= ENST00000357387 NM_152756.3 1395 ttG/ttA 0 Silent C 29 RICTOR SNP 5 C T 38983252 38983252 Broad PCDHB10 56126 broad.mit.edu GRCh37 5 140573514 140573514 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000239446.4:c.1389C>A p.Asn463Lys p.N463K ENST00000239446 NM_018930.3 463 aaC/aaA 0 Missense_Mutation C 17 PCDHB10 SNP 5 C A 140553698 140553698 Broad SQSTM1 8878 broad.mit.edu GRCh37 5 179251006 179251006 + synonymous_variant Silent SNP G G A novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000389805.4:c.450G>A p.Leu150= p.L150= ENST00000389805 NM_003900.4 150 ttG/ttA 0 Silent G 48 SQSTM1 SNP 5 G A 179183612 179183612 Broad SLC22A23 63027 broad.mit.edu GRCh37 6 3273559 3273559 + synonymous_variant Silent SNP G G A novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000406686.3:c.1791C>T p.Tyr597= p.Y597= ENST00000406686 NM_015482.1 597 taC/taT 0 Silent G 36 SLC22A23 SNP 6 G A 3218558 3218558 Broad DHX16 8449 broad.mit.edu GRCh37 6 30633303 30633303 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000376442.3:c.874C>A p.Leu292Met p.L292M ENST00000376442 NM_001164239.1 292 Ctg/Atg 0 Missense_Mutation G 34 DHX16 SNP 6 G T 30741282 30741282 Broad DHX16 8449 broad.mit.edu GRCh37 6 30633415 30633415 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000376442.3:c.762G>T p.Glu254Asp p.E254D ENST00000376442 NM_001164239.1 254 gaG/gaT 0 Missense_Mutation C 20 DHX16 SNP 6 C A 30741394 30741394 Broad ENPP4 22875 broad.mit.edu GRCh37 6 46111285 46111285 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000321037.4:c.1270C>T p.Leu424Phe p.L424F ENST00000321037 NM_014936.4 424 Ctc/Ttc 0 Missense_Mutation C 24 ENPP4 SNP 6 C T 46219244 46219244 Broad RNF216 54476 broad.mit.edu GRCh37 7 5760731 5760731 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000389902.3:c.1577G>A p.Arg526His p.R526H ENST00000389902 526 cGt/cAt 0 Missense_Mutation C 19 RNF216 SNP 7 C T 5727257 5727257 Broad SEMA3E 9723 broad.mit.edu GRCh37 7 83119472 83119472 + synonymous_variant Silent SNP T T C novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000307792.3:c.234A>G p.Val78= p.V78= ENST00000307792 NM_012431.2 78 gtA/gtG 0 Silent T 49 SEMA3E SNP 7 T C 82957408 82957408 Broad ZKSCAN1 7586 broad.mit.edu GRCh37 7 99630969 99630969 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000324306.6:c.841G>T p.Ala281Ser p.A281S ENST00000324306 NM_003439.1 281 Gct/Tct 0 Missense_Mutation G 42 ZKSCAN1 SNP 7 G T 99468905 99468905 Broad RECK 8434 broad.mit.edu GRCh37 9 36102105 36102105 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown x x x ENST00000377966.3:c.1313A>T p.Glu438Val p.E438V ENST00000377966 NM_021111.2 438 gAg/gTg 0 Missense_Mutation A 11 RECK SNP 9 A T 36092105 36092105 Broad GFPT2 9945 broad.mit.edu GRCh37 5 179763577 179763577 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-30-1853-01 TCGA-30-1853-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000253778.8:c.116del p.Gly39ValfsTer40 p.G39Vfs*40 ENST00000253778 NM_005110.2 39 gGt/gt 0 Frame_Shift_Del C 18 GFPT2 DEL 5 - C 179696183 179696183 Broad ABCC4 10257 hgsc.bcm.edu GRCh37 13 95858995 95858995 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000376887.4:c.952G>A p.Gly318Arg p.G318R ENST00000376887 NM_005845.3 318 Ggg/Agg 0 Missense_Mutation C 24 ABCC4 SNP 13 C T 94656996 94656996 Baylor AFF4 27125 hgsc.bcm.edu GRCh37 5 132270346 132270346 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000265343.5:c.411C>T p.Ser137= p.S137= ENST00000265343 NM_014423.3 137 agC/agT 0 Silent G 38 AFF4 SNP 5 G A 132298245 132298245 Baylor BAG6 7917 hgsc.bcm.edu GRCh37 6 31614186 31614186 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000375964.6:c.921G>A p.Thr307= p.T307= ENST00000375964 NM_004639.3 307 acG/acA 0 Silent C 23 BAT3 SNP 6 C T 31722165 31722165 Baylor SETD9 133383 hgsc.bcm.edu GRCh37 5 56212700 56212700 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000285947.2:c.871T>A p.Phe291Ile p.F291I ENST00000285947 NM_153706.3 291 Ttt/Att 0 Missense_Mutation T 64 C5orf35 SNP 5 T A 56248457 56248457 Baylor CDC20 991 hgsc.bcm.edu GRCh37 1 43827963 43827963 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000372462.1:c.1301C>A p.Ala434Asp p.A434D ENST00000372462 434 gCc/gAc 0 Missense_Mutation C 26 CDC20 SNP 1 C A 43600550 43600550 Baylor CYP4A11 1579 hgsc.bcm.edu GRCh37 1 47401277 47401277 + missense_variant Missense_Mutation SNP C C A rs62618709 Unknown TCGA-25-1633-01 TCGA-25-1633-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000310638.4:c.553G>T p.Val185Phe p.V185F ENST00000310638 NM_000778.3 185 Gtc/Ttc 0 Missense_Mutation C 18 CYP4A11 SNP 1 C A 47173864 47173864 Baylor IGDCC4 57722 hgsc.bcm.edu GRCh37 15 65693215 65693215 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000352385.2:c.770C>G p.Ser257Cys p.S257C ENST00000352385 NM_020962.1 257 tCt/tGt 0 Missense_Mutation G 33 IGDCC4 SNP 15 G C 63480268 63480268 Baylor MFRP 83552 hgsc.bcm.edu GRCh37 11 119213400 119213400 + synonymous_variant,NMD_transcript_variant Silent SNP T T A novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000530681.1:c.1293A>T p.Gly431= p.G431= ENST00000530681 431 ggA/ggT 0 Silent T 54 MFRP SNP 11 T A 118718610 118718610 Baylor NF1 4763 hgsc.bcm.edu GRCh37 17 29550571 29550571 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358273.4:c.1831C>T p.Leu611Phe p.L611F ENST00000358273 NM_001042492.2 611 Ctt/Ttt 0 Missense_Mutation C 32 NF1 SNP 17 C T 26574697 26574697 Baylor PABPC1 26986 hgsc.bcm.edu GRCh37 8 101730064 101730064 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000318607.5:c.440C>T p.Thr147Met p.T147M ENST00000318607 NM_002568.3 147 aCg/aTg 0 Missense_Mutation G 40 PABPC1 SNP 8 G A 101799240 101799240 Baylor PLEKHA7 144100 hgsc.bcm.edu GRCh37 11 16892690 16892690 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000355661.3:c.261G>A p.Thr87= p.T87= ENST00000355661 87 acG/acA 0 Silent C 23 PLEKHA7 SNP 11 C T 16849266 16849266 Baylor RAB3GAP1 22930 hgsc.bcm.edu GRCh37 2 135920177 135920178 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000442034.1:c.2343dup p.Pro782ThrfsTer24 p.P782Tfs*24 ENST00000442034 NM_001172435.1 781 tta/ttAa 0 Frame_Shift_Ins - 61 RAB3GAP1 INS 2 - A 135636648 135636647 Baylor RXRA 6256 hgsc.bcm.edu GRCh37 9 137313652 137313652 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000481739.1:c.910+1G>T p.X304_splice ENST00000481739 NM_002957.4 0 Splice_Site_SNP G 44 RXRA SNP 9 G T 136453473 136453473 Baylor SASH3 54440 hgsc.bcm.edu GRCh37 X 128921963 128921963 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000356892.3:c.70C>A p.Arg24Ser p.R24S ENST00000356892 NM_018990.3 24 Cgc/Agc 0 Missense_Mutation C 27 SASH3 SNP 23 C A 128749644 128749644 Baylor SEMA5B 54437 hgsc.bcm.edu GRCh37 3 122642539 122642539 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000451055.2:c.1359C>T p.Phe453= p.F453= ENST00000451055 NM_001256347.1 453 ttC/ttT 0 Silent G 45 SEMA5B SNP 3 G A 124125229 124125229 Baylor SFMBT1 51460 hgsc.bcm.edu GRCh37 3 52960128 52960128 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000394752.3:c.1050C>T p.Gly350= p.G350= ENST00000394752 NM_016329.3 350 ggC/ggT 0 Silent G 34 SFMBT1 SNP 3 G A 52935168 52935168 Baylor SPAG17 200162 hgsc.bcm.edu GRCh37 1 118644399 118644399 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000336338.5:c.598C>T p.Arg200Trp p.R200W ENST00000336338 NM_206996.2 200 Cgg/Tgg 0 Missense_Mutation G 38 SPAG17 SNP 1 G A 118445922 118445922 Baylor STAB2 55576 hgsc.bcm.edu GRCh37 12 104105290 104105290 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000388887.2:c.4330G>A p.Ala1444Thr p.A1444T ENST00000388887 NM_017564.9 1444 Gcc/Acc 0 Missense_Mutation G 38 STAB2 SNP 12 G A 102629420 102629420 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578406 7578406 + missense_variant Missense_Mutation SNP C C T rs28934578 Unknown TCGA-25-1633-01 TCGA-25-1633-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.524G>A p.Arg175His p.R175H ENST00000269305 NM_001126112.2 175 cGc/cAc 0 Missense_Mutation C 27 TP53 SNP 17 C T 7519131 7519131 Baylor TXNDC15 79770 hgsc.bcm.edu GRCh37 5 134229209 134229209 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1633-01 TCGA-25-1633-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358387.4:c.619G>A p.Gly207Ser p.G207S ENST00000358387 NM_024715.3 207 Ggt/Agt 0 Missense_Mutation G 39 TXNDC15 SNP 5 G A 134257108 134257108 Baylor ABCC2 1244 hgsc.bcm.edu GRCh37 10 101578641 101578641 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000370449.4:c.2366C>G p.Ser789Cys p.S789C ENST00000370449 NM_000392.3 789 tCt/tGt 0 Missense_Mutation C 32 ABCC2 SNP 10 C G 101568631 101568631 Baylor ABHD6 57406 hgsc.bcm.edu GRCh37 3 58271149 58271149 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000478253.1:c.806C>T p.Pro269Leu p.P269L ENST00000478253 269 cCg/cTg 0 Missense_Mutation C 23 ABHD6 SNP 3 C T 58246189 58246189 Baylor ACE 1636 hgsc.bcm.edu GRCh37 17 61571747 61571747 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000290866.4:c.3296G>A p.Gly1099Asp p.G1099D ENST00000290866 NM_000789.3 1099 gGc/gAc 0 Missense_Mutation G 42 ACE SNP 17 G A 58925479 58925479 Baylor AMHR2 269 hgsc.bcm.edu GRCh37 12 53819530 53819530 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000257863.4:c.679G>C p.Val227Leu p.V227L ENST00000257863 NM_001164690.1 227 Gtt/Ctt 0 Missense_Mutation G 44 AMHR2 SNP 12 G C 52105797 52105797 Baylor ANO10 55129 hgsc.bcm.edu GRCh37 3 43474200 43474200 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000292246.3:c.1817A>G p.Lys606Arg p.K606R ENST00000292246 NM_018075.3 606 aAg/aGg 0 Missense_Mutation T 56 ANO10 SNP 3 T C 43449204 43449204 Baylor APOB 338 hgsc.bcm.edu GRCh37 2 21237962 21237962 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000233242.1:c.3679G>A p.Gly1227Ser p.G1227S ENST00000233242 NM_000384.2 1227 Ggt/Agt 0 Missense_Mutation C 22 APOB SNP 2 C T 21091467 21091467 Baylor AQP3 360 hgsc.bcm.edu GRCh37 9 33442355 33442356 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000297991.4:c.653_654insT p.Asp219GlyfsTer93 p.D219Gfs*93 ENST00000297991 NM_004925.4 218 cgg/cgTg 0 Frame_Shift_Ins - 22 AQP3 INS 9 - A 33432356 33432355 Baylor ARID1B 57492 hgsc.bcm.edu GRCh37 6 157527615 157527615 + synonymous_variant Silent SNP A A G novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000346085.5:c.5340A>G p.Gln1780= p.Q1780= ENST00000346085 NM_020732.3 1780 caA/caG 0 Silent A 3 ARID1B SNP 6 A G 157569307 157569307 Baylor ATP10A 57194 hgsc.bcm.edu GRCh37 15 25924920 25924921 + frameshift_variant Frame_Shift_Ins INS - - AA novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000356865.6:c.4067_4068insTT p.Thr1357SerfsTer20 p.T1357Sfs*20 ENST00000356865 NM_024490.3 1356 cac/caTTc 0 Frame_Shift_Ins - 48 ATP10A INS 15 - AA 23476014 23476013 Baylor C10orf12 84458 hgsc.bcm.edu GRCh37 10 98743852 98743855 + frameshift_variant Frame_Shift_Del DEL CTGT CTGT - novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 CTGT CTGT . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000286067.2:c.2706_2709del p.Val903SerfsTer22 p.V903Sfs*22 ENST00000286067 NM_015652.2 902 cCTGTc/cc 0 Frame_Shift_Del CTGT 24 C10orf12 DEL 10 CTGT - 98733845 98733842 Baylor VWA7 80737 hgsc.bcm.edu GRCh37 6 31733543 31733543 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000375688.4:c.2504G>A p.Arg835Gln p.R835Q ENST00000375688 835 cGg/cAg 0 Missense_Mutation C 23 C6orf27 SNP 6 C T 31841522 31841522 Baylor C7orf31 136895 hgsc.bcm.edu GRCh37 7 25182384 25182384 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000409280.1:c.734C>G p.Pro245Arg p.P245R ENST00000409280 245 cCt/cGt 0 Missense_Mutation G 35 C7orf31 SNP 7 G C 25148909 25148909 Baylor CDC27 996 hgsc.bcm.edu GRCh37 17 45247389 45247389 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000531206.1:c.271delA p.Ile91SerfsTer54 p.I91Sfs*54 ENST00000531206 91 Atc/tc 0 Frame_Shift_Del T 52 CDC27 DEL 17 T - 42602388 42602388 Baylor CENPJ 55835 hgsc.bcm.edu GRCh37 13 25484157 25484157 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381884.4:c.636G>C p.Glu212Asp p.E212D ENST00000381884 NM_018451.4 212 gaG/gaC 0 Missense_Mutation C 32 CENPJ SNP 13 C G 24382157 24382157 Baylor CHD4 1108 hgsc.bcm.edu GRCh37 12 6704527 6704527 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357008.2:c.2094G>T p.Glu698Asp p.E698D ENST00000357008 NM_001273.2 698 gaG/gaT 0 Missense_Mutation C 32 CHD4 SNP 12 C A 6574788 6574788 Baylor CHML 1122 hgsc.bcm.edu GRCh37 1 241797528 241797528 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000366553.1:c.1541C>G p.Ser514Cys p.S514C ENST00000366553 NM_001821.3 514 tCt/tGt 0 Missense_Mutation G 33 CHML SNP 1 G C 239864151 239864151 Baylor CHMP4A 29082 hgsc.bcm.edu GRCh37 14 24682648 24682648 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000347519.6:c.127G>T p.Ala43Ser p.A43S ENST00000347519 NM_014169.3 43 Gcg/Tcg 0 Missense_Mutation C 27 CHMP4A SNP 14 C A 23752488 23752488 Baylor CSMD3 114788 hgsc.bcm.edu GRCh37 8 113347628 113347628 + synonymous_variant Silent SNP A A C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000297405.5:c.7095T>G p.Thr2365= p.T2365= ENST00000297405 NM_198123.1 2365 acT/acG 0 Silent A 3 CSMD3 SNP 8 A C 113416804 113416804 Baylor CSRNP1 64651 hgsc.bcm.edu GRCh37 3 39186582 39186582 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000273153.5:c.371C>A p.Ser124Tyr p.S124Y ENST00000273153 NM_033027.3 124 tCt/tAt 0 Missense_Mutation G 33 CSRNP1 SNP 3 G T 39161586 39161586 Baylor CTHRC1 115908 hgsc.bcm.edu GRCh37 8 104390423 104390423 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000330295.5:c.541G>C p.Gly181Arg p.G181R ENST00000330295 NM_138455.3 181 Gga/Cga 0 Missense_Mutation G 35 CTHRC1 SNP 8 G C 104459599 104459599 Baylor DAAM1 23002 hgsc.bcm.edu GRCh37 14 59797938 59797940 + inframe_deletion In_Frame_Del DEL TGC TGC - novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 TGC TGC . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000395125.1:c.1573_1575del p.Ala525del p.A525del ENST00000395125 NM_014992.2 524 tgTGCt/tgt 0 In_Frame_Del TGC 59 DAAM1 DEL 14 TGC - 58867693 58867691 Baylor DAD1 1603 hgsc.bcm.edu GRCh37 14 23044008 23044010 + inframe_deletion In_Frame_Del DEL CAA CAA - novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 CAA CAA . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000250498.4:c.335_337del p.Val112del p.V112del ENST00000250498 NM_001344.2 112 gTTGgc/ggc 0 In_Frame_Del CAA 21 DAD1 DEL 14 CAA - 22113850 22113848 Baylor DBI 1622 hgsc.bcm.edu GRCh37 2 120125782 120125782 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000542275.1:c.211G>T p.Ala71Ser p.A71S ENST00000542275 NM_001178017.1 71 Gca/Tca 0 Missense_Mutation G 46 DBI SNP 2 G T 119842252 119842252 Baylor DLX1 1745 hgsc.bcm.edu GRCh37 2 172951554 172951554 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361725.4:c.486G>A p.Ala162= p.A162= ENST00000361725 NM_178120.4 162 gcG/gcA 0 Silent G 39 DLX1 SNP 2 G A 172659800 172659800 Baylor DMXL1 1657 hgsc.bcm.edu GRCh37 5 118502388 118502388 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000311085.8:c.5048A>T p.Lys1683Met p.K1683M ENST00000311085 NM_005509.4 1683 aAg/aTg 0 Missense_Mutation A 3 DMXL1 SNP 5 A T 118530287 118530287 Baylor EPM2A 7957 hgsc.bcm.edu GRCh37 6 145956542 145956542 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367519.3:c.557T>G p.Ile186Ser p.I186S ENST00000367519 NM_005670.3 186 aTt/aGt 0 Missense_Mutation A 4 EPM2A SNP 6 A C 145998235 145998235 Baylor EXTL3 2137 hgsc.bcm.edu GRCh37 8 28574118 28574119 + inframe_insertion In_Frame_Ins INS - - CCATGT novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000220562.4:c.543_544insCATGTC p.Asn181_Cys182insHisVal p.N181_C182insHV ENST00000220562 NM_001440.3 181 aac/aaCCATGTc 0 In_Frame_Ins - 2 EXTL3 INS 8 - CCATGT 28630038 28630037 Baylor FRMD4A 55691 hgsc.bcm.edu GRCh37 10 13712491 13712491 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357447.2:c.1289A>G p.Asp430Gly p.D430G ENST00000357447 NM_018027.3 430 gAt/gGt 0 Missense_Mutation T 50 FRMD4A SNP 10 T C 13752497 13752497 Baylor FURIN 5045 hgsc.bcm.edu GRCh37 15 91424681 91424681 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000268171.3:c.1958G>A p.Gly653Glu p.G653E ENST00000268171 NM_002569.2 653 gGg/gAg 0 Missense_Mutation G 43 FURIN SNP 15 G A 89225685 89225685 Baylor GADD45GIP1 90480 hgsc.bcm.edu GRCh37 19 13065323 13065323 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000316939.1:c.368A>G p.Glu123Gly p.E123G ENST00000316939 NM_052850.3 123 gAg/gGg 0 Missense_Mutation T 54 GADD45GIP1 SNP 19 T C 12926323 12926323 Baylor GADD45GIP1 90480 hgsc.bcm.edu GRCh37 19 13065326 13065326 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000316939.1:c.365C>A p.Ala122Glu p.A122E ENST00000316939 NM_052850.3 122 gCa/gAa 0 Missense_Mutation G 46 GADD45GIP1 SNP 19 G T 12926326 12926326 Baylor GLIS2 84662 hgsc.bcm.edu GRCh37 16 4383356 4383357 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262366.3:c.182dup p.Asn62GlufsTer115 p.N62Efs*115 ENST00000262366 61 ctg/cTtg 0 Frame_Shift_Ins - 28 GLIS2 INS 16 - T 4323358 4323357 Baylor GOLIM4 27333 hgsc.bcm.edu GRCh37 3 167750318 167750318 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000470487.1:c.1166C>A p.Ala389Glu p.A389E ENST00000470487 NM_014498.3 389 gCg/gAg 0 Missense_Mutation G 38 GOLIM4 SNP 3 G T 169233012 169233012 Baylor GRM5 2915 hgsc.bcm.edu GRCh37 11 88300288 88300288 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000418177.2:c.2563N>A p.Ala855Thr p.A855T ENST00000418177 855 Gca/Aca 0 Missense_Mutation C 27 GRM5 SNP 11 C T 87939936 87939936 Baylor HDAC7 51564 hgsc.bcm.edu GRCh37 12 48180401 48180401 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000080059.7:c.2539G>A p.Ala847Thr p.A847T ENST00000080059 NM_015401.3 847 Gcc/Acc 0 Missense_Mutation C 26 HDAC7 SNP 12 C T 46466668 46466668 Baylor HUWE1 10075 hgsc.bcm.edu GRCh37 X 53577921 53577921 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000342160.3:c.9326A>G p.His3109Arg p.H3109R ENST00000342160 3109 cAt/cGt 0 Missense_Mutation T 51 HUWE1 SNP 23 T C 53594646 53594646 Baylor IGSF11 152404 hgsc.bcm.edu GRCh37 3 118621759 118621759 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393775.2:c.904G>A p.Glu302Lys p.E302K ENST00000393775 NM_001015887.1 302 Gag/Aag 0 Missense_Mutation C 29 IGSF11 SNP 3 C T 120104449 120104449 Baylor IRS4 8471 hgsc.bcm.edu GRCh37 X 107976436 107976436 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000372129.2:c.3139G>C p.Val1047Leu p.V1047L ENST00000372129 NM_003604.2 1047 Gtg/Ctg 0 Missense_Mutation C 17 IRS4 SNP 23 C G 107863092 107863092 Baylor ITIH1 3697 hgsc.bcm.edu GRCh37 3 52813473 52813473 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000273283.2:c.436T>G p.Phe146Val p.F146V ENST00000273283 NM_002215.3 146 Ttc/Gtc 0 Missense_Mutation T 52 ITIH1 SNP 3 T G 52788513 52788513 Baylor JOSD1 9929 hgsc.bcm.edu GRCh37 22 39095977 39095977 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000216039.5:c.16del p.Trp6GlyfsTer64 p.W6Gfs*64 ENST00000216039 NM_014876.5 6 Tgg/gg 0 Frame_Shift_Del A 8 JOSD1 DEL 22 A - 37425923 37425923 Baylor KATNB1 10300 hgsc.bcm.edu GRCh37 16 57790315 57790315 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379661.3:c.1766T>A p.Phe589Tyr p.F589Y ENST00000379661 NM_005886.2 589 tTt/tAt 0 Missense_Mutation T 64 KATNB1 SNP 16 T A 56347816 56347816 Baylor CTIF 9811 hgsc.bcm.edu GRCh37 18 46287796 46287796 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000382998.4:c.1113G>C p.Gln371His p.Q371H ENST00000382998 NM_001142397.1 371 caG/caC 0 Missense_Mutation G 33 KIAA0427 SNP 18 G C 44541794 44541794 Baylor KLK10 5655 hgsc.bcm.edu GRCh37 19 51519365 51519365 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000309958.3:c.317G>T p.Gly106Val p.G106V ENST00000309958 NM_002776.4 106 gGa/gTa 0 Missense_Mutation C 30 KLK10 SNP 19 C A 56211177 56211177 Baylor LARP1 23367 hgsc.bcm.edu GRCh37 5 154181875 154181876 + inframe_insertion In_Frame_Ins INS - - GAT novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000336314.4:c.1795_1796insATG p.Leu598_Ala599insAsp p.L598_A599insD ENST00000336314 NM_015315.4 598 -/GAT 0 In_Frame_Ins - 47 LARP1 INS 5 - GAT 154162069 154162068 Baylor LCAT 3931 hgsc.bcm.edu GRCh37 16 67974172 67974172 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264005.5:c.958C>G p.Gln320Glu p.Q320E ENST00000264005 NM_000229.1 320 Cag/Gag 0 Missense_Mutation G 46 LCAT SNP 16 G C 66531673 66531673 Baylor LRBA 987 hgsc.bcm.edu GRCh37 4 151203756 151203756 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357115.3:c.8195G>A p.Arg2732Lys p.R2732K ENST00000357115 NM_006726.4 2732 aGg/aAg 0 Missense_Mutation C 24 LRBA SNP 4 C T 151423206 151423206 Baylor LRP10 26020 hgsc.bcm.edu GRCh37 14 23344376 23344376 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000359591.4:c.328G>A p.Gly110Ser p.G110S ENST00000359591 NM_014045.3 110 Ggc/Agc 0 Missense_Mutation G 43 LRP10 SNP 14 G A 22414216 22414216 Baylor LRP2 4036 hgsc.bcm.edu GRCh37 2 170062136 170062136 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000263816.3:c.7568G>C p.Trp2523Ser p.W2523S ENST00000263816 NM_004525.2 2523 tGg/tCg 0 Missense_Mutation C 21 LRP2 SNP 2 C G 169770382 169770382 Baylor LRRTM1 347730 hgsc.bcm.edu GRCh37 2 80530076 80530076 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295057.3:c.869A>G p.Asn290Ser p.N290S ENST00000295057 NM_178839.4 290 aAc/aGc 0 Missense_Mutation T 60 LRRTM1 SNP 2 T C 80383587 80383587 Baylor MAGEA8 4107 hgsc.bcm.edu GRCh37 X 149013837 149013837 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000535454.1:c.791C>A p.Ala264Glu p.A264E ENST00000535454 NM_001166400.1 264 gCg/gAg 0 Missense_Mutation C 27 MAGEA8 SNP 23 C A 148774495 148774495 Baylor MAN2C1 4123 hgsc.bcm.edu GRCh37 15 75656375 75656375 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000565683.1:c.755C>G p.Thr252Ser p.T252S ENST00000565683 NM_001256494.1 252 aCc/aGc 0 Missense_Mutation G 44 MAN2C1 SNP 15 G C 73443428 73443428 Baylor MAP3K3 4215 hgsc.bcm.edu GRCh37 17 61768495 61768495 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361357.3:c.1339C>A p.Leu447Ile p.L447I ENST00000361357 NM_203351.1 447 Cta/Ata 0 Missense_Mutation C 28 MAP3K3 SNP 17 C A 59122227 59122227 Baylor MYH4 4622 hgsc.bcm.edu GRCh37 17 10350417 10350417 + synonymous_variant Silent SNP T T A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000255381.2:c.5082A>T p.Ala1694= p.A1694= ENST00000255381 NM_017533.2 1694 gcA/gcT 0 Silent T 51 MYH4 SNP 17 T A 10291142 10291142 Baylor MYH8 4626 hgsc.bcm.edu GRCh37 17 10317286 10317286 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000403437.2:c.1080G>T p.Met360Ile p.M360I ENST00000403437 NM_002472.2 360 atG/atT 0 Missense_Mutation C 25 MYH8 SNP 17 C A 10258011 10258011 Baylor NEFH 4744 hgsc.bcm.edu GRCh37 22 29885437 29885438 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000310624.6:c.1810dup p.Ala604GlyfsTer14 p.A604Gfs*14 ENST00000310624 NM_021076.3 603 aag/aaGg 0 Frame_Shift_Ins - 3 NEFH INS 22 - G 28215438 28215437 Baylor NOVA1 4857 hgsc.bcm.edu GRCh37 14 26918027 26918027 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000539517.2:c.662T>C p.Val221Ala p.V221A ENST00000539517 NM_002515.2 221 gTc/gCc 0 Missense_Mutation A 10 NOVA1 SNP 14 A G 25987867 25987867 Baylor NR1H3 10062 hgsc.bcm.edu GRCh37 11 47282193 47282193 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000467728.1:c.466C>A p.Arg156Ser p.R156S ENST00000467728 156 Cgc/Agc 0 Missense_Mutation C 31 NR1H3 SNP 11 C A 47238769 47238769 Baylor OR10H2 26538 hgsc.bcm.edu GRCh37 19 15839642 15839642 + synonymous_variant Silent SNP C C A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000305899.3:c.789C>A p.Pro263= p.P263= ENST00000305899 NM_013939.2 263 ccC/ccA 0 Silent C 21 OR10H2 SNP 19 C A 15700642 15700642 Baylor OXSR1 9943 hgsc.bcm.edu GRCh37 3 38265303 38265303 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000311806.3:c.601G>T p.Val201Phe p.V201F ENST00000311806 NM_005109.2 201 Gtc/Ttc 0 Missense_Mutation G 44 OXSR1 SNP 3 G T 38240307 38240307 Baylor PCDH20 64881 hgsc.bcm.edu GRCh37 13 61986664 61986664 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000409186.1:c.1568T>G p.Val523Gly p.V523G ENST00000409186 523 gTg/gGg 0 Missense_Mutation A 6 PCDH20 SNP 13 A C 60884665 60884665 Baylor PDK3 5165 hgsc.bcm.edu GRCh37 X 24523397 24523397 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000441463.2:c.577G>A p.Val193Met p.V193M ENST00000441463 NM_001142386.2 193 Gtg/Atg 0 Missense_Mutation G 40 PDK3 SNP 23 G A 24433318 24433318 Baylor PKHD1 5314 hgsc.bcm.edu GRCh37 6 51897949 51897949 + synonymous_variant Silent SNP G G T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371117.3:c.3243C>A p.Arg1081= p.R1081= ENST00000371117 NM_138694.3 1081 cgC/cgA 0 Silent G 46 PKHD1 SNP 6 G T 52005908 52005908 Baylor PKN3 29941 hgsc.bcm.edu GRCh37 9 131482068 131482068 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000291906.4:c.2229G>T p.Trp743Cys p.W743C ENST00000291906 NM_013355.3 743 tgG/tgT 0 Missense_Mutation G 43 PKN3 SNP 9 G T 130521889 130521889 Baylor PLVAP 83483 hgsc.bcm.edu GRCh37 19 17487777 17487777 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000252590.4:c.321C>T p.Arg107= p.R107= ENST00000252590 NM_031310.1 107 cgC/cgT 0 Silent G 38 PLVAP SNP 19 G A 17348777 17348777 Baylor PLXNA1 5361 hgsc.bcm.edu GRCh37 3 126746833 126746833 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393409.2:c.4413G>C p.Gln1471His p.Q1471H ENST00000393409 NM_032242.3 1471 caG/caC 0 Missense_Mutation G 33 PLXNA1 SNP 3 G C 128229523 128229523 Baylor PRC1 9055 hgsc.bcm.edu GRCh37 15 91512798 91512798 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000394249.3:c.1628G>T p.Gly543Val p.G543V ENST00000394249 NM_003981.3 543 gGa/gTa 0 Missense_Mutation C 30 PRC1 SNP 15 C A 89313802 89313802 Baylor PRKD1 5587 hgsc.bcm.edu GRCh37 14 30107998 30107998 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000331968.5:c.809C>T p.Pro270Leu p.P270L ENST00000331968 NM_002742.2 270 cCg/cTg 0 Missense_Mutation G 39 PRKD1 SNP 14 G A 29177749 29177749 Baylor PRKD2 25865 hgsc.bcm.edu GRCh37 19 47197154 47197154 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000433867.1:c.1554C>T p.Ser518= p.S518= ENST00000433867 NM_001079881.1 518 agC/agT 0 Silent G 38 PRKD2 SNP 19 G A 51888994 51888994 Baylor PROM2 150696 hgsc.bcm.edu GRCh37 2 95944750 95944753 + frameshift_variant Frame_Shift_Del DEL GCCC GCCC - novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 GCCC GCCC . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000317620.9:c.1132_1135del p.Ala378SerfsTer6 p.A378Sfs*6 ENST00000317620 NM_001165978.1 378 GCCCag/ag 0 Frame_Shift_Del GCCC 42 PROM2 DEL 2 GCCC - 95308480 95308477 Baylor RIF1 55183 hgsc.bcm.edu GRCh37 2 152325066 152325066 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000243326.5:c.6825+1G>C p.X2275_splice ENST00000243326 0 Splice_Site_SNP G 36 RIF1 SNP 2 G C 152033312 152033312 Baylor RIMBP2 23504 hgsc.bcm.edu GRCh37 12 130897166 130897166 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261655.4:c.2819T>C p.Ile940Thr p.I940T ENST00000261655 NM_015347.4 940 aTa/aCa 0 Missense_Mutation A 16 RIMBP2 SNP 12 A G 129463119 129463119 Baylor SCN1A 6323 hgsc.bcm.edu GRCh37 2 166903282 166903282 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000303395.4:c.1375C>T p.Gln459Ter p.Q459* ENST00000303395 459 Cag/Tag 0 Nonsense_Mutation G 45 SCN1A SNP 2 G A 166611528 166611528 Baylor SDHA 6389 hgsc.bcm.edu GRCh37 5 256484 256485 + frameshift_variant Frame_Shift_Del DEL TT TT - novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 TT TT . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264932.6:c.1945_1946del p.Leu649GlufsTer4 p.L649Efs*4 ENST00000264932 NM_004168.2 648 acTTtg/actg 0 Frame_Shift_Del TT 56 SDHA DEL 5 TT - 309485 309484 Baylor SGSM2 9905 hgsc.bcm.edu GRCh37 17 2266876 2266877 + frameshift_variant Frame_Shift_Del DEL CA CA - novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 CA CA . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000268989.3:c.791_792del p.His264ArgfsTer169 p.H264Rfs*169 ENST00000268989 NM_014853.2 264 CAc/c 0 Frame_Shift_Del CA 21 SGSM2 DEL 17 CA - 2213627 2213626 Baylor SLC17A7 57030 hgsc.bcm.edu GRCh37 19 49939976 49939976 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000221485.3:c.145C>A p.Pro49Thr p.P49T ENST00000221485 NM_020309.3 49 Ccg/Acg 0 Missense_Mutation G 43 SLC17A7 SNP 19 G T 54631788 54631788 Baylor SMARCA1 6594 hgsc.bcm.edu GRCh37 X 128630779 128630779 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371122.4:c.1574G>A p.Arg525His p.R525H ENST00000371122 NM_003069.3 525 cGt/cAt 0 Missense_Mutation C 19 SMARCA1 SNP 23 C T 128458460 128458460 Baylor SORBS3 10174 hgsc.bcm.edu GRCh37 8 22414287 22414287 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000240123.7:c.280A>G p.Ile94Val p.I94V ENST00000240123 NM_005775.4 94 Atc/Gtc 0 Missense_Mutation A 12 SORBS3 SNP 8 A G 22470232 22470232 Baylor ST7L 54879 hgsc.bcm.edu GRCh37 1 113084662 113084662 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358039.4:c.1540C>G p.His514Asp p.H514D ENST00000358039 NM_138727.3 514 Cat/Gat 0 Missense_Mutation G 47 ST7L SNP 1 G C 112886185 112886185 Baylor STAT3 6774 hgsc.bcm.edu GRCh37 17 40489512 40489512 + synonymous_variant Silent SNP C C A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264657.5:c.738G>T p.Arg246= p.R246= ENST00000264657 NM_139276.2 246 cgG/cgT 0 Silent C 26 STAT3 SNP 17 C A 37743038 37743038 Baylor SULF2 55959 hgsc.bcm.edu GRCh37 20 46294020 46294020 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000359930.4:c.1920C>G p.Asn640Lys p.N640K ENST00000359930 NM_018837.3 640 aaC/aaG 0 Missense_Mutation G 48 SULF2 SNP 20 G C 45727427 45727427 Baylor TCP11 6954 hgsc.bcm.edu GRCh37 6 35088209 35088209 + synonymous_variant Silent SNP A A T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000311875.5:c.969T>A p.Pro323= p.P323= ENST00000311875 323 ccT/ccA 0 Silent A 7 TCP11 SNP 6 A T 35196187 35196187 Baylor TEX10 54881 hgsc.bcm.edu GRCh37 9 103082642 103082642 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000374902.4:c.2107C>G p.Arg703Gly p.R703G ENST00000374902 NM_017746.3 703 Cga/Gga 0 Missense_Mutation G 37 TEX10 SNP 9 G C 102122463 102122463 Baylor TMOD2 29767 hgsc.bcm.edu GRCh37 15 52058735 52058735 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000249700.4:c.97G>C p.Glu33Gln p.E33Q ENST00000249700 NM_001142885.1 33 Gaa/Caa 0 Missense_Mutation G 41 TMOD2 SNP 15 G C 49846027 49846027 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578176 7578176 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.672+1G>T p.X224_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 18 TP53 SNP 17 C A 7518901 7518901 Baylor TRIM41 90933 hgsc.bcm.edu GRCh37 5 180661662 180661662 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000315073.5:c.1780A>C p.Asn594His p.N594H ENST00000315073 NM_033549.4 594 Aac/Cac 0 Missense_Mutation A 5 TRIM41 SNP 5 A C 180594268 180594268 Baylor TSPYL1 7259 hgsc.bcm.edu GRCh37 6 116600085 116600085 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368608.3:c.909C>G p.Tyr303Ter p.Y303* ENST00000368608 NM_003309.3 303 taC/taG 0 Nonsense_Mutation G 48 TSPYL1 SNP 6 G C 116706778 116706778 Baylor TXNDC12 51060 hgsc.bcm.edu GRCh37 1 52486660 52486660 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371626.4:c.464A>T p.Gln155Leu p.Q155L ENST00000371626 NM_015913.3 155 cAg/cTg 0 Missense_Mutation T 55 TXNDC12 SNP 1 T A 52259248 52259248 Baylor TXNL1 9352 hgsc.bcm.edu GRCh37 18 54305583 54305583 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000217515.6:c.89C>G p.Thr30Ser p.T30S ENST00000217515 NM_004786.2 30 aCc/aGc 0 Missense_Mutation G 44 TXNL1 SNP 18 G C 52456581 52456581 Baylor UBE4A 9354 hgsc.bcm.edu GRCh37 11 118261438 118261441 + frameshift_variant Frame_Shift_Del DEL ACAG ACAG - novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 ACAG ACAG . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000431736.2:c.2860_2863del p.Thr954PhefsTer4 p.T954Ffs*4 ENST00000431736 952 gcACAG/gc 0 Frame_Shift_Del ACAG 6 UBE4A DEL 11 ACAG - 117766651 117766648 Baylor VAT1 10493 hgsc.bcm.edu GRCh37 17 41170667 41170667 + synonymous_variant Silent SNP G G T novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000355653.3:c.537C>A p.Val179= p.V179= ENST00000355653 NM_006373.3 179 gtC/gtA 0 Silent G 41 VAT1 SNP 17 G T 38424193 38424193 Baylor VLDLR 7436 hgsc.bcm.edu GRCh37 9 2641485 2641485 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000382100.3:c.434A>C p.Asp145Ala p.D145A ENST00000382100 NM_003383.3 145 gAt/gCt 0 Missense_Mutation A 12 VLDLR SNP 9 A C 2631485 2631485 Baylor ZNF235 9310 hgsc.bcm.edu GRCh37 19 44791479 44791479 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000291182.4:c.2109A>C p.Arg703Ser p.R703S ENST00000291182 NM_004234.4 703 agA/agC 0 Missense_Mutation T 54 ZNF235 SNP 19 T G 49483319 49483319 Baylor ZNF556 80032 hgsc.bcm.edu GRCh37 19 2878120 2878120 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-36-1577-01 TCGA-36-1577-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000307635.2:c.1164T>G p.His388Gln p.H388Q ENST00000307635 NM_024967.1 388 caT/caG 0 Missense_Mutation T 51 ZNF556 SNP 19 T G 2829120 2829120 Baylor RAP1GAP 5909 broad.mit.edu GRCh37 1 21936632 21936632 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000290101.4:c.1172C>T p.Pro391Leu p.P391L ENST00000290101 NM_001145658.1 391 cCt/cTt 0 Missense_Mutation G 35 RAP1GAP SNP 1 G A 21809219 21809219 Broad OR14C36 127066 broad.mit.edu GRCh37 1 248512740 248512740 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000317861.1:c.664A>C p.Thr222Pro p.T222P ENST00000317861 NM_001001918.1 222 Acc/Ccc 0 Missense_Mutation A 10 OR14C36 SNP 1 A C 246579363 246579363 Broad NDST2 8509 broad.mit.edu GRCh37 10 75566216 75566216 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000309979.6:c.1265C>T p.Thr422Met p.T422M ENST00000309979 422 aCg/aTg 0 Missense_Mutation G 40 NDST2 SNP 10 G A 75236222 75236222 Broad FAM45A 404636 broad.mit.edu GRCh37 10 120892035 120892035 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000361432.2:c.811G>A p.Ala271Thr p.A271T ENST00000361432 NM_207009.2 271 Gca/Aca 0 Missense_Mutation G 42 FAM45A SNP 10 G A 120882025 120882025 Broad ERC1 23085 broad.mit.edu GRCh37 12 1481109 1481109 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000397203.2:c.2891A>G p.Glu964Gly p.E964G ENST00000397203 964 gAg/gGg 0 Missense_Mutation A 11 ERC1 SNP 12 A G 1351370 1351370 Broad PLEKHG6 55200 broad.mit.edu GRCh37 12 6424758 6424758 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000396988.3:c.498G>A p.Leu166= p.L166= ENST00000396988 NM_001144856.1 166 ctG/ctA 0 Silent G 48 PLEKHG6 SNP 12 G A 6295019 6295019 Broad CDKN1B 1027 broad.mit.edu GRCh37 12 12871005 12871005 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000228872.4:c.232G>A p.Glu78Lys p.E78K ENST00000228872 NM_004064.3 78 Gag/Aag 0 Missense_Mutation G 33 CDKN1B SNP 12 G A 12762272 12762272 Broad TEX26 122046 broad.mit.edu GRCh37 13 31540436 31540436 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000380473.3:c.547C>T p.Arg183Ter p.R183* ENST00000380473 NM_152325.1 183 Cga/Tga 0 Nonsense_Mutation C 23 C13orf26 SNP 13 C T 30438436 30438436 Broad UACA 55075 broad.mit.edu GRCh37 15 70959967 70959967 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000322954.6:c.3056G>C p.Ser1019Thr p.S1019T ENST00000322954 NM_018003.2 1019 aGt/aCt 0 Missense_Mutation C 20 UACA SNP 15 C G 68747021 68747021 Broad EFCAB5 374786 broad.mit.edu GRCh37 17 28417568 28417568 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000394835.3:c.3813C>A p.Gly1271= p.G1271= ENST00000394835 NM_198529.3 1271 ggC/ggA 0 Silent C 26 EFCAB5 SNP 17 C A 25441694 25441694 Broad KCNH6 81033 broad.mit.edu GRCh37 17 61623121 61623121 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000583023.1:c.2843C>T p.Pro948Leu p.P948L ENST00000583023 NM_030779.3 948 cCt/cTt 0 Missense_Mutation C 24 KCNH6 SNP 17 C T 58976853 58976853 Broad ABCA9 10350 broad.mit.edu GRCh37 17 67028402 67028402 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000340001.4:c.1292G>A p.Arg431Gln p.R431Q ENST00000340001 NM_080283.3 431 cGa/cAa 0 Missense_Mutation C 31 ABCA9 SNP 17 C T 64539997 64539997 Broad PRR19 284338 broad.mit.edu GRCh37 19 42814000 42814000 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000499536.2:c.264G>C p.Arg88Ser p.R88S ENST00000499536 88 agG/agC 0 Missense_Mutation G 42 PRR19 SNP 19 G C 47505840 47505840 Broad HES1 3280 broad.mit.edu GRCh37 3 193855991 193855991 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000232424.3:c.812C>T p.Ala271Val p.A271V ENST00000232424 NM_005524.3 271 gCg/gTg 0 Missense_Mutation C 27 HES1 SNP 3 C T 195338685 195338685 Broad RICTOR 253260 broad.mit.edu GRCh37 5 38952518 38952518 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000357387.3:c.2907A>G p.Val969= p.V969= ENST00000357387 NM_152756.3 969 gtA/gtG 0 Silent T 49 RICTOR SNP 5 T C 38988275 38988275 Broad PHF3 23469 broad.mit.edu GRCh37 6 64416112 64416112 + splice_region_variant,synonymous_variant Splice_Region SNP A A T novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000262043.3:c.3561A>T p.Pro1187= p.P1187= ENST00000262043 1187 ccA/ccT 0 Silent A 6 PHF3 SNP 6 A T 64474071 64474071 Broad AIM1 202 broad.mit.edu GRCh37 6 106968265 106968265 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2408-01 TCGA-25-2408-10 Unknown Unknown Unknown x x x ENST00000369066.3:c.1958C>G p.Pro653Arg p.P653R ENST00000369066 NM_001624.2 653 cCc/cGc 0 Missense_Mutation C 22 AIM1 SNP 6 C G 107074958 107074958 Broad PTBP1 5725 genome.wustl.edu GRCh37 19 805531 805531 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000356948.6:c.932C>T p.Ala311Val p.A311V ENST00000356948 NM_002819.4 311 gCt/gTt 0 Missense_Mutation C 28 PTBP1 SNP 19 C T 756531 756531 WashU RNF167 26001 genome.wustl.edu GRCh37 17 4845725 4845725 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000262482.6:c.255G>A p.Ala85= p.A85= ENST00000262482 NM_015528.1 85 gcG/gcA 0 Silent G 38 RNF167 SNP 17 A A 4786470 4786470 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 Missense_Mutation G 38 TP53 SNP 17 A A 7517846 7517846 WashU MYO1F 4542 genome.wustl.edu GRCh37 19 8587323 8587323 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000338257.8:c.3158T>C p.Val1053Ala p.V1053A ENST00000338257 NM_012335.3 1053 gTg/gCg 0 Missense_Mutation A 6 MYO1F SNP 19 A G 8493323 8493323 WashU PLOD1 5351 genome.wustl.edu GRCh37 1 12024280 12024280 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000196061.4:c.1251C>T p.Asn417= p.N417= ENST00000196061 NM_000302.3 417 aaC/aaT 0 Silent C 20 PLOD1 SNP 1 C T 11946867 11946867 WashU SGCZ 137868 genome.wustl.edu GRCh37 8 14095116 14095116 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382080.1:c.409G>A p.Gly137Arg p.G137R ENST00000382080 NM_139167.2 137 Gga/Aga 0 Missense_Mutation C 23 SGCZ SNP 8 C T 14139487 14139487 WashU COMP 1311 genome.wustl.edu GRCh37 19 18901377 18901377 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000222271.2:c.211G>A p.Ala71Thr p.A71T ENST00000222271 NM_000095.2 71 Gcg/Acg 0 Missense_Mutation C 27 COMP SNP 19 C T 18762377 18762377 WashU CDH9 1007 genome.wustl.edu GRCh37 5 26915969 26915969 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000231021.4:c.292G>T p.Gly98Cys p.G98C ENST00000231021 NM_016279.3 98 Ggc/Tgc 0 Missense_Mutation C 21 CDH9 SNP 5 C A 26951726 26951726 WashU FGR 2268 genome.wustl.edu GRCh37 1 27939810 27939810 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000374005.3:c.1301G>T p.Arg434Ile p.R434I ENST00000374005 NM_005248.2 434 aGa/aTa 0 Missense_Mutation C 32 FGR SNP 1 C A 27812397 27812397 WashU OR2S2 56656 genome.wustl.edu GRCh37 9 35957870 35957870 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000341959.2:c.226A>G p.Thr76Ala p.T76A ENST00000341959 NM_019897.2 76 Acc/Gcc 0 Missense_Mutation T 57 OR2S2 SNP 9 T C 35947870 35947870 WashU CRIM1 51232 genome.wustl.edu GRCh37 2 36744582 36744582 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000280527.2:c.2103C>T p.Cys701= p.C701= ENST00000280527 NM_016441.2 701 tgC/tgT 0 Silent C 25 CRIM1 SNP 2 C T 36598086 36598086 WashU TBKBP1 9755 genome.wustl.edu GRCh37 17 45774190 45774190 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000361722.3:c.339C>A p.Phe113Leu p.F113L ENST00000361722 NM_014726.2 113 ttC/ttA 0 Missense_Mutation C 30 TBKBP1 SNP 17 C A 43129189 43129189 WashU TSPAN1 10103 genome.wustl.edu GRCh37 1 46650757 46650757 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372003.1:c.564C>T p.Thr188= p.T188= ENST00000372003 NM_005727.3 188 acC/acT 0 Silent C 21 TSPAN1 SNP 1 C T 46423344 46423344 WashU ARID4A 5926 genome.wustl.edu GRCh37 14 58831429 58831429 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355431.3:c.2622A>T p.Gly874= p.G874= ENST00000355431 NM_002892.3 874 ggA/ggT 0 Silent A 9 ARID4A SNP 14 A T 57901182 57901182 WashU TMX3 54495 genome.wustl.edu GRCh37 18 66381130 66381130 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000299608.2:c.54A>T p.Val18= p.V18= ENST00000299608 NM_019022.3 18 gtA/gtT 0 Silent T 57 TMX3 SNP 18 A A 64532110 64532110 WashU FHOD1 29109 genome.wustl.edu GRCh37 16 67271277 67271277 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000258201.4:c.858G>T p.Ala286= p.A286= ENST00000258201 NM_013241.2 286 gcG/gcT 0 Silent C 23 FHOD1 SNP 16 C A 65828778 65828778 WashU SRP68 6730 genome.wustl.edu GRCh37 17 74039922 74039922 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000307877.2:c.1512G>T p.Lys504Asn p.K504N ENST00000307877 NM_014230.3 504 aaG/aaT 0 Missense_Mutation C 32 SRP68 SNP 17 C A 71551517 71551517 WashU ROBO1 6091 genome.wustl.edu GRCh37 3 78685094 78685094 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000464233.1:c.3202G>C p.Gly1068Arg p.G1068R ENST00000464233 NM_002941.3 1068 Ggg/Cgg 0 Splice_Site_SNP C 24 ROBO1 SNP 3 C G 78767784 78767784 WashU TSHR 7253 genome.wustl.edu GRCh37 14 81609337 81609337 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298171.2:c.935G>C p.Arg312Thr p.R312T ENST00000298171 NM_000369.2 312 aGa/aCa 0 Missense_Mutation G 33 TSHR SNP 14 G C 80679090 80679090 WashU KCNK10 54207 genome.wustl.edu GRCh37 14 88729714 88729714 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000319231.5:c.234T>G p.Val78= p.V78= ENST00000319231 NM_138317.2 78 gtT/gtG 0 Silent A 5 KCNK10 SNP 14 A C 87799467 87799467 WashU OTUB2 78990 genome.wustl.edu GRCh37 14 94511024 94511024 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000203664.5:c.396G>T p.Val132= p.V132= ENST00000203664 NM_023112.3 132 gtG/gtT 0 Silent G 46 OTUB2 SNP 14 G T 93580777 93580777 WashU RPA4 29935 genome.wustl.edu GRCh37 X 96139484 96139484 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000373040.3:c.175G>T p.Val59Leu p.V59L ENST00000373040 NM_013347.4 59 Gtg/Ttg 0 Missense_Mutation G 48 RPA4 SNP 23 G T 96026140 96026140 WashU GRHL2 79977 genome.wustl.edu GRCh37 8 102631900 102631900 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000251808.3:c.1232G>T p.Cys411Phe p.C411F ENST00000251808 NM_024915.3 411 tGc/tTc 0 Missense_Mutation G 46 GRHL2 SNP 8 G T 102701076 102701076 WashU C7orf66 154907 genome.wustl.edu GRCh37 7 108524558 108524558 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379007.2:c.32T>A p.Leu11His p.L11H ENST00000379007 NM_001024607.1 11 cTt/cAt 0 Missense_Mutation A 3 C7orf66 SNP 7 T T 108311794 108311794 WashU PROK1 84432 genome.wustl.edu GRCh37 1 110993901 110993901 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000271331.3:c.63G>A p.Val21= p.V21= ENST00000271331 NM_032414.2 21 gtG/gtA 0 Silent G 45 PROK1 SNP 1 G A 110795424 110795424 WashU ARSJ 79642 genome.wustl.edu GRCh37 4 114824078 114824078 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000315366.7:c.1152C>T p.Leu384= p.L384= ENST00000315366 NM_024590.3 384 ctC/ctT 0 Silent G 45 ARSJ SNP 4 G A 115043527 115043527 WashU FXYD2 486 genome.wustl.edu GRCh37 11 117691574 117691574 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000292079.2:c.176G>A p.Arg59Lys p.R59K ENST00000292079 NM_001680.4 59 aGg/aAg 0 Missense_Mutation C 24 FXYD2 SNP 11 C T 117196784 117196784 WashU KALRN 8997 genome.wustl.edu GRCh37 3 123988076 123988076 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000240874.3:c.937C>T p.Arg313Trp p.R313W ENST00000240874 NM_003947.4 313 Cgg/Tgg 0 Missense_Mutation C 27 KALRN SNP 3 T T 125470766 125470766 WashU EDRF1 26098 genome.wustl.edu GRCh37 10 127409845 127409845 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356792.4:c.181C>G p.Arg61Gly p.R61G ENST00000356792 NM_001202438.1 61 Cga/Gga 0 Missense_Mutation C 31 C10orf137 SNP 10 C G 127399835 127399835 WashU ABTB1 80325 genome.wustl.edu GRCh37 3 127395268 127395268 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000232744.8:c.474C>A p.His158Gln p.H158Q ENST00000232744 158 caC/caA 0 Missense_Mutation C 18 ABTB1 SNP 3 C A 128877958 128877958 WashU SEPT8 23176 genome.wustl.edu GRCh37 5 132098188 132098188 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378719.2:c.684C>T p.Asn228= p.N228= ENST00000378719 NM_001098811.1 228 aaC/aaT 0 Silent G 40 SEPT8 SNP 5 G A 132126087 132126087 WashU OC90 729330 genome.wustl.edu GRCh37 8 133036962 133036962 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000254627.3:c.1200C>A p.Cys400Ter p.C400* ENST00000254627 NM_001080399.2 400 tgC/tgA 0 Nonsense_Mutation G 46 OC90 SNP 8 T T 133106144 133106144 WashU ANKHD1 54882 genome.wustl.edu GRCh37 5 139815788 139815788 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297183.6:c.406C>T p.Arg136Cys p.R136C ENST00000297183 NM_020690.5 136 Cgc/Tgc 0 Missense_Mutation C 19 ANKHD1-EIF4EBP3 SNP 5 C T 139795972 139795972 WashU POLR3C 10623 genome.wustl.edu GRCh37 1 145608205 145608205 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334163.3:c.492T>C p.Pro164= p.P164= ENST00000334163 NM_006468.6 164 ccT/ccC 0 Silent A 15 POLR3C SNP 1 A G 144319562 144319562 WashU DCHS2 54798 genome.wustl.edu GRCh37 4 155242049 155242049 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 T T A A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357232.4:c.3137A>T p.Glu1046Val p.E1046V ENST00000357232 NM_017639.3 1046 gAa/gTa 0 Missense_Mutation T 62 DCHS2 SNP 4 A A 155461499 155461499 WashU ECE2 9718 genome.wustl.edu GRCh37 3 183975499 183975499 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000402825.3:c.435C>T p.Thr145= p.T145= ENST00000402825 NM_014693.3 145 acC/acT 0 Silent C 23 ECE2 SNP 3 C T 185458193 185458193 WashU PPFIA4 8497 genome.wustl.edu GRCh37 1 203015021 203015021 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367240.2:c.911G>C p.Arg304Pro p.R304P ENST00000367240 304 cGc/cCc 0 Missense_Mutation G 38 PPFIA4 SNP 1 C C 201281644 201281644 WashU SNAP47 116841 genome.wustl.edu GRCh37 1 227947066 227947066 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000366759.4:c.1003G>A p.Val335Ile p.V335I ENST00000366759 NM_053052.3 335 Gtt/Att 0 Missense_Mutation G 44 SNAP47 SNP 1 G A 226013689 226013689 WashU AC009299.4 643194 genome.wustl.edu GRCh37 2 162137781 162137781 + upstream_gene_variant 5'Flank SNP C C A novel Unknown TCGA-24-1426-01 TCGA-24-1426-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000429684 0 Missense_Mutation C 27 LOC643194 SNP 2 C A 161846027 161846027 WashU MTOR 2475 broad.mit.edu GRCh37 1 11307883 11307883 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000361445.4:c.1109T>A p.Phe370Tyr p.F370Y ENST00000361445 NM_004958.3 370 tTt/tAt 0 Missense_Mutation A 1 MTOR SNP 1 A T 11230470 11230470 Broad PADI1 29943 broad.mit.edu GRCh37 1 17559404 17559404 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000375471.4:c.1252G>A p.Val418Ile p.V418I ENST00000375471 NM_013358.2 418 Gtc/Atc 0 Missense_Mutation G 40 PADI1 SNP 1 G A 17431991 17431991 Broad HDAC1 3065 broad.mit.edu GRCh37 1 32768246 32768246 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000373548.3:c.74G>C p.Gly25Ala p.G25A ENST00000373548 NM_004964.2 25 gGa/gCa 0 Missense_Mutation G 41 HDAC1 SNP 1 G C 32540833 32540833 Broad AGO1 26523 broad.mit.edu GRCh37 1 36367660 36367660 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000373204.4:c.1252T>C p.Tyr418His p.Y418H ENST00000373204 NM_012199.2 418 Tac/Cac 0 Missense_Mutation T 57 EIF2C1 SNP 1 T C 36140247 36140247 Broad KIF2C 11004 broad.mit.edu GRCh37 1 45213058 45213058 + missense_variant,splice_region_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 T G T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000372224.4:c.168T>G p.Ile56Met p.I56M ENST00000372224 NM_006845.3 56 atT/atG 0 Missense_Mutation T 63 KIF2C SNP 1 T G 44985645 44985645 Broad MAN1A2 10905 broad.mit.edu GRCh37 1 117910982 117910982 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000356554.3:c.177C>T p.Asp59= p.D59= ENST00000356554 NM_006699.3 59 gaC/gaT 0 Silent C 20 MAN1A2 SNP 1 C T 117712505 117712505 Broad NBPF14 25832 broad.mit.edu GRCh37 1 148004589 148004589 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000310701.10:c.2742C>T p.Leu915Phe p.L915F ENST00000310701 915 Ctc/Ttc 0 Missense_Mutation G 33 NBPF14 SNP 1 G A 146471213 146471213 Broad POGZ 23126 broad.mit.edu GRCh37 1 151400883 151400883 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000271715.2:c.575G>A p.Gly192Asp p.G192D ENST00000271715 NM_015100.3 192 gGt/gAt 0 Missense_Mutation C 18 POGZ SNP 1 C T 149667507 149667507 Broad CRTC2 200186 broad.mit.edu GRCh37 1 153920791 153920791 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000368633.1:c.1876G>T p.Gly626Cys p.G626C ENST00000368633 NM_181715.2 626 Ggt/Tgt 0 Missense_Mutation C 24 CRTC2 SNP 1 C A 152187415 152187415 Broad AXDND1 126859 broad.mit.edu GRCh37 1 179347861 179347861 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000367618.3:c.464A>T p.Gln155Leu p.Q155L ENST00000367618 NM_144696.5 155 cAg/cTg 0 Missense_Mutation A 7 C1orf125 SNP 1 A T 177614484 177614484 Broad DDX59 83479 broad.mit.edu GRCh37 1 200619725 200619725 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000331314.6:c.1142T>C p.Ile381Thr p.I381T ENST00000331314 NM_001031725.4 381 aTt/aCt 0 Missense_Mutation A 4 DDX59 SNP 1 A G 198886348 198886348 Broad C1orf106 55765 broad.mit.edu GRCh37 1 200876999 200876999 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000413687.2:c.558G>T p.Gly186= p.G186= ENST00000413687 NM_001142569.2 186 ggG/ggT 0 Silent G 42 C1orf106 SNP 1 G T 199143622 199143622 Broad PRELP 5549 broad.mit.edu GRCh37 1 203452815 203452815 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000343110.2:c.503C>T p.Ala168Val p.A168V ENST00000343110 NM_201348.1 168 gCc/gTc 0 Missense_Mutation C 26 PRELP SNP 1 C T 201719438 201719438 Broad EPHX1 2052 broad.mit.edu GRCh37 1 226030165 226030165 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000366837.4:c.1030G>A p.Gly344Ser p.G344S ENST00000366837 NM_000120.3 344 Ggc/Agc 0 Missense_Mutation G 35 EPHX1 SNP 1 G A 224096788 224096788 Broad FAM208B 54906 broad.mit.edu GRCh37 10 5790325 5790325 + synonymous_variant Silent SNP A A C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000328090.5:c.4941A>C p.Thr1647= p.T1647= ENST00000328090 NM_017782.4 1647 acA/acC 0 Silent A 6 C10orf18 SNP 10 A C 5830331 5830331 Broad FBXO18 84893 broad.mit.edu GRCh37 10 5978419 5978419 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000379999.5:c.2983G>C p.Glu995Gln p.E995Q ENST00000379999 NM_032807.4 995 Gag/Cag 0 Missense_Mutation G 41 FBXO18 SNP 10 G C 6018425 6018425 Broad CPEB3 22849 broad.mit.edu GRCh37 10 93812185 93812185 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000265997.4:c.1881G>A p.Lys627= p.K627= ENST00000265997 NM_014912.4 627 aaG/aaA 0 Silent C 28 CPEB3 SNP 10 C T 93802165 93802165 Broad GPAM 57678 broad.mit.edu GRCh37 10 113933556 113933556 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000348367.4:c.461G>T p.Gly154Val p.G154V ENST00000348367 154 gGt/gTt 0 Missense_Mutation C 18 GPAM SNP 10 C A 113923546 113923546 Broad DMBT1 1755 broad.mit.edu GRCh37 10 124377810 124377810 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000368909.3:c.4782C>T p.Leu1594= p.L1594= ENST00000368909 NM_007329.2 1594 ctC/ctT 0 Silent C 32 DMBT1 SNP 10 C T 124367800 124367800 Broad TUBGCP2 10844 broad.mit.edu GRCh37 10 135103420 135103420 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000543663.1:c.1352A>G p.Tyr451Cys p.Y451C ENST00000543663 451 tAc/tGc 0 Missense_Mutation T 57 TUBGCP2 SNP 10 T C 134953410 134953410 Broad CHRNA10 57053 broad.mit.edu GRCh37 11 3687612 3687612 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000250699.2:c.1078T>C p.Ser360Pro p.S360P ENST00000250699 NM_020402.2 360 Tcc/Ccc 0 Missense_Mutation A 10 CHRNA10 SNP 11 A G 3644188 3644188 Broad MRGPRX3 117195 broad.mit.edu GRCh37 11 18159317 18159317 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000396275.2:c.568G>T p.Val190Phe p.V190F ENST00000396275 NM_054031.3 190 Gtt/Ttt 0 Missense_Mutation G 44 MRGPRX3 SNP 11 G T 18115893 18115893 Broad RAPSN 5913 broad.mit.edu GRCh37 11 47463423 47463423 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000298854.2:c.741C>T p.Leu247= p.L247= ENST00000298854 NM_005055.4 247 ctC/ctT 0 Silent G 33 RAPSN SNP 11 G A 47419999 47419999 Broad OR5M10 390167 broad.mit.edu GRCh37 11 56344609 56344609 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000526812.2:c.589A>T p.Met197Leu p.M197L ENST00000526812 NM_001004741.1 197 Atg/Ttg 0 Missense_Mutation T 50 OR5M10 SNP 11 T A 56101185 56101185 Broad SSH3 54961 broad.mit.edu GRCh37 11 67075069 67075069 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000308127.4:c.652G>T p.Gly218Cys p.G218C ENST00000308127 NM_017857.3 218 Ggc/Tgc 0 Missense_Mutation G 39 SSH3 SNP 11 G T 66831645 66831645 Broad TYR 7299 broad.mit.edu GRCh37 11 88911742 88911742 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000263321.5:c.621T>C p.Phe207= p.F207= ENST00000263321 NM_000372.4 207 ttT/ttC 0 Silent T 62 TYR SNP 11 T C 88551390 88551390 Broad DSCAML1 57453 broad.mit.edu GRCh37 11 117392075 117392075 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000321322.6:c.1163T>C p.Ile388Thr p.I388T ENST00000321322 NM_020693.2 388 aTt/aCt 0 Missense_Mutation A 4 DSCAML1 SNP 11 A G 116897285 116897285 Broad KMT2A 4297 broad.mit.edu GRCh37 11 118359387 118359387 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000534358.1:c.4391A>G p.Glu1464Gly p.E1464G ENST00000534358 NM_005933.3 1464 gAg/gGg 0 Missense_Mutation A 11 MLL SNP 11 A G 117864597 117864597 Broad GUCY2C 2984 broad.mit.edu GRCh37 12 14796586 14796586 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000261170.3:c.1852A>G p.Thr618Ala p.T618A ENST00000261170 NM_004963.3 618 Acc/Gcc 0 Missense_Mutation T 57 GUCY2C SNP 12 T C 14687853 14687853 Broad ZNF641 121274 broad.mit.edu GRCh37 12 48739139 48739139 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000544117.2:c.437T>C p.Val146Ala p.V146A ENST00000544117 146 gTa/gCa 0 Missense_Mutation A 14 ZNF641 SNP 12 A G 47025406 47025406 Broad SCN8A 6334 broad.mit.edu GRCh37 12 52200485 52200485 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000354534.6:c.5215C>A p.Pro1739Thr p.P1739T ENST00000354534 NM_014191.3 1739 Ccc/Acc 0 Missense_Mutation C 22 SCN8A SNP 12 C A 50486752 50486752 Broad SCN8A 6334 broad.mit.edu GRCh37 12 52200805 52200805 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000354534.6:c.5535G>A p.Leu1845= p.L1845= ENST00000354534 NM_014191.3 1845 ttG/ttA 0 Silent G 47 SCN8A SNP 12 G A 50487072 50487072 Broad SPPL3 121665 broad.mit.edu GRCh37 12 121204137 121204137 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000353487.2:c.1012G>A p.Ala338Thr p.A338T ENST00000353487 NM_139015.4 338 Gcc/Acc 0 Missense_Mutation C 26 SPPL3 SNP 12 C T 119688520 119688520 Broad DGKH 160851 broad.mit.edu GRCh37 13 42772647 42772647 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000337343.4:c.2201G>C p.Gly734Ala p.G734A ENST00000337343 NM_178009.3 734 gGg/gCg 0 Missense_Mutation G 43 DGKH SNP 13 G C 41670647 41670647 Broad CHD8 57680 broad.mit.edu GRCh37 14 21876941 21876941 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000399982.2:c.2408A>G p.His803Arg p.H803R ENST00000399982 NM_001170629.1 803 cAt/cGt 0 Missense_Mutation T 51 CHD8 SNP 14 T C 20946781 20946781 Broad DCAF4 26094 broad.mit.edu GRCh37 14 73420934 73420934 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000358377.2:c.871T>A p.Ser291Thr p.S291T ENST00000358377 NM_001163509.1 291 Tcc/Acc 0 Missense_Mutation T 58 DCAF4 SNP 14 T A 72490687 72490687 Broad KCNK10 54207 broad.mit.edu GRCh37 14 88652212 88652212 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000319231.5:c.1299G>A p.Pro433= p.P433= ENST00000319231 NM_138317.2 433 ccG/ccA 0 Silent C 23 KCNK10 SNP 14 C T 87721965 87721965 Broad DYNC1H1 1778 broad.mit.edu GRCh37 14 102505809 102505809 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000360184.4:c.11521T>C p.Tyr3841His p.Y3841H ENST00000360184 NM_001376.4 3841 Tac/Cac 0 Missense_Mutation T 49 DYNC1H1 SNP 14 T C 101575562 101575562 Broad IVD 3712 broad.mit.edu GRCh37 15 40698147 40698147 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000487418.2:c.128A>C p.Asn43Thr p.N43T ENST00000487418 43 aAt/aCt 0 Missense_Mutation A 4 IVD SNP 15 A C 38485439 38485439 Broad B2M 567 broad.mit.edu GRCh37 15 45003745 45003745 + start_lost Translation_Start_Site SNP A A G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000558401.1:c.1A>G p.Met1? p.M1? ENST00000558401 NM_004048.2 1 Atg/Gtg 0 Missense_Mutation A 12 B2M SNP 15 A G 42791037 42791037 Broad MTFMT 123263 broad.mit.edu GRCh37 15 65295594 65295594 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000220058.4:c.976G>T p.Asp326Tyr p.D326Y ENST00000220058 NM_139242.3 326 Gat/Tat 0 Missense_Mutation C 30 MTFMT SNP 15 C A 63082647 63082647 Broad TICRR 90381 broad.mit.edu GRCh37 15 90168333 90168333 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000268138.7:c.4792G>T p.Glu1598Ter p.E1598* ENST00000268138 1598 Gaa/Taa 0 Nonsense_Mutation G 33 C15orf42 SNP 15 G T 87969337 87969337 Broad IFT140 9742 broad.mit.edu GRCh37 16 1636197 1636197 + synonymous_variant Silent SNP T T G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000426508.2:c.1089A>C p.Ala363= p.A363= ENST00000426508 NM_014714.3 363 gcA/gcC 0 Silent T 55 IFT140 SNP 16 T G 1576198 1576198 Broad ABCC6 368 broad.mit.edu GRCh37 16 16278888 16278888 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000205557.7:c.1871C>T p.Ala624Val p.A624V ENST00000205557 NM_001171.5 624 gCc/gTc 0 Missense_Mutation G 42 ABCC6 SNP 16 G A 16186389 16186389 Broad SHCBP1 79801 broad.mit.edu GRCh37 16 46615701 46615701 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000303383.3:c.1959G>C p.Gly653= p.G653= ENST00000303383 NM_024745.4 653 ggG/ggC 0 Silent C 30 SHCBP1 SNP 16 C G 45173202 45173202 Broad RSPRY1 89970 broad.mit.edu GRCh37 16 57261340 57261340 + synonymous_variant Silent SNP T T A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000537866.1:c.1248T>A p.Pro416= p.P416= ENST00000537866 416 ccT/ccA 0 Silent T 54 RSPRY1 SNP 16 T A 55818841 55818841 Broad MVD 4597 broad.mit.edu GRCh37 16 88724353 88724353 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000301012.3:c.226C>T p.Gln76Ter p.Q76* ENST00000301012 NM_002461.1 76 Cag/Tag 0 Nonsense_Mutation G 46 MVD SNP 16 G A 87251854 87251854 Broad RABEP1 9135 broad.mit.edu GRCh37 17 5264741 5264741 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000262477.6:c.1334C>G p.Ala445Gly p.A445G ENST00000262477 NM_004703.4 445 gCa/gGa 0 Missense_Mutation C 25 RABEP1 SNP 17 C G 5205465 5205465 Broad TP53 7157 broad.mit.edu GRCh37 17 7578406 7578406 + missense_variant Missense_Mutation SNP C C T rs28934578 Unknown TCGA-23-1122-01 TCGA-23-1122-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000269305.4:c.524G>A p.Arg175His p.R175H ENST00000269305 NM_001126112.2 175 cGc/cAc 0 Missense_Mutation C 27 TP53 SNP 17 C T 7519131 7519131 Broad DGKE 8526 broad.mit.edu GRCh37 17 54912337 54912337 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000284061.3:c.181G>T p.Gly61Trp p.G61W ENST00000284061 NM_003647.2 61 Ggg/Tgg 0 Missense_Mutation G 39 DGKE SNP 17 G T 52267336 52267336 Broad ABCA9 10350 broad.mit.edu GRCh37 17 67014629 67014629 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000340001.4:c.2692C>T p.Pro898Ser p.P898S ENST00000340001 NM_080283.3 898 Cca/Tca 0 Missense_Mutation G 41 ABCA9 SNP 17 G A 64526224 64526224 Broad ABCA6 23460 broad.mit.edu GRCh37 17 67125872 67125872 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 T G T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000284425.2:c.812A>C p.Tyr271Ser p.Y271S ENST00000284425 NM_080284.2 271 tAt/tCt 0 Missense_Mutation T 49 ABCA6 SNP 17 T G 64637467 64637467 Broad ABCA10 10349 broad.mit.edu GRCh37 17 67171636 67171636 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000269081.4:c.2788C>T p.Leu930Phe p.L930F ENST00000269081 NM_080282.3 930 Ctt/Ttt 0 Missense_Mutation G 33 ABCA10 SNP 17 G A 64683231 64683231 Broad CD300A 11314 broad.mit.edu GRCh37 17 72470705 72470705 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000360141.3:c.414G>T p.Ala138= p.A138= ENST00000360141 NM_007261.3 138 gcG/gcT 0 Silent G 39 CD300A SNP 17 G T 69982300 69982300 Broad CNDP2 55748 broad.mit.edu GRCh37 18 72187269 72187269 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000324262.4:c.1394C>T p.Ala465Val p.A465V ENST00000324262 NM_018235.2 465 gCg/gTg 0 Missense_Mutation C 27 CNDP2 SNP 18 C T 70338249 70338249 Broad PDE4A 5141 broad.mit.edu GRCh37 19 10570271 10570271 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000352831.6:c.1201G>A p.Glu401Lys p.E401K ENST00000352831 NM_001111307.1 401 Gag/Aag 0 Missense_Mutation G 41 PDE4A SNP 19 G A 10431271 10431271 Broad CYP4F2 8529 broad.mit.edu GRCh37 19 16000331 16000331 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000221700.6:c.820C>T p.Arg274Trp p.R274W ENST00000221700 NM_001082.3 274 Cgg/Tgg 0 Missense_Mutation G 38 CYP4F2 SNP 19 G A 15861331 15861331 Broad PGLYRP1 8993 broad.mit.edu GRCh37 19 46522630 46522630 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000008938.4:c.457G>C p.Ala153Pro p.A153P ENST00000008938 NM_005091.2 153 Gcc/Ccc 0 Missense_Mutation C 26 PGLYRP1 SNP 19 C G 51214470 51214470 Broad KPTN 11133 broad.mit.edu GRCh37 19 47979937 47979937 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000338134.3:c.1034C>G p.Ser345Trp p.S345W ENST00000338134 NM_007059.2 345 tCg/tGg 0 Missense_Mutation G 37 KPTN SNP 19 G C 52671749 52671749 Broad FCGRT 2217 broad.mit.edu GRCh37 19 50017245 50017245 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000221466.5:c.180C>G p.Ser60Arg p.S60R ENST00000221466 NM_001136019.2 60 agC/agG 0 Missense_Mutation C 28 FCGRT SNP 19 C G 54709057 54709057 Broad ZNF765 91661 broad.mit.edu GRCh37 19 53912239 53912239 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000396408.3:c.1431G>T p.Arg477= p.R477= ENST00000396408 NM_001040185.1 477 cgG/cgT 0 Silent G 41 ZNF765 SNP 19 G T 58604051 58604051 Broad KLF11 8462 broad.mit.edu GRCh37 2 10186296 10186296 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000305883.1:c.62G>A p.Cys21Tyr p.C21Y ENST00000305883 NM_003597.4 21 tGt/tAt 0 Missense_Mutation G 48 KLF11 SNP 2 G A 10103747 10103747 Broad ITSN2 50618 broad.mit.edu GRCh37 2 24524840 24524840 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000355123.4:c.989C>G p.Ser330Cys p.S330C ENST00000355123 NM_006277.2 330 tCt/tGt 0 Missense_Mutation G 33 ITSN2 SNP 2 G C 24378344 24378344 Broad TTN 7273 broad.mit.edu GRCh37 2 179485181 179485181 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.46067A>C p.His15356Pro p.H15356P ENST00000589042 NM_001267550.1 15356 cAc/cCc 0 Missense_Mutation T 59 TTN SNP 2 T G 179193426 179193426 Broad TTN 7273 broad.mit.edu GRCh37 2 179485250 179485250 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000589042.1:c.45998A>T p.Lys15333Met p.K15333M ENST00000589042 NM_001267550.1 15333 aAg/aTg 0 Missense_Mutation T 56 TTN SNP 2 T A 179193495 179193495 Broad SP140 11262 broad.mit.edu GRCh37 2 231090598 231090598 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000392045.3:c.39A>G p.Gly13= p.G13= ENST00000392045 NM_007237.4 13 ggA/ggG 0 Silent A 11 SP140 SNP 2 A G 230798842 230798842 Broad PDCD1 5133 broad.mit.edu GRCh37 2 242794952 242794952 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000334409.5:c.257G>C p.Arg86Pro p.R86P ENST00000334409 NM_005018.2 86 cGc/cCc 0 Missense_Mutation C 27 PDCD1 SNP 2 C G 242443625 242443625 Broad SNPH 9751 broad.mit.edu GRCh37 20 1286337 1286337 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000381873.3:c.1124C>G p.Ala375Gly p.A375G ENST00000381873 NM_014723.2 375 gCc/gGc 0 Missense_Mutation C 26 SNPH SNP 20 C G 1234337 1234337 Broad RIMS4 140730 broad.mit.edu GRCh37 20 43384921 43384921 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000541604.2:c.667G>C p.Glu223Gln p.E223Q ENST00000541604 223 Gag/Cag 0 Missense_Mutation C 30 RIMS4 SNP 20 C G 42818335 42818335 Broad DOK5 55816 broad.mit.edu GRCh37 20 53205045 53205045 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000262593.5:c.198G>A p.Lys66= p.K66= ENST00000262593 NM_018431.3 66 aaG/aaA 0 Silent G 33 DOK5 SNP 20 G A 52638452 52638452 Broad HELZ2 85441 broad.mit.edu GRCh37 20 62192010 62192010 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000467148.1:c.7322A>T p.Lys2441Met p.K2441M ENST00000467148 NM_001037335.2 2441 aAg/aTg 0 Missense_Mutation T 56 PRIC285 SNP 20 T A 61662454 61662454 Broad TSPEAR 54084 broad.mit.edu GRCh37 21 45919783 45919783 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000323084.4:c.1893C>A p.Ser631Arg p.S631R ENST00000323084 NM_001272037.1 631 agC/agA 0 Missense_Mutation G 42 C21orf29 SNP 21 G T 44744211 44744211 Broad RTN4R 65078 broad.mit.edu GRCh37 22 20230012 20230012 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000043402.7:c.644C>A p.Ala215Asp p.A215D ENST00000043402 NM_023004.5 215 gCc/gAc 0 Missense_Mutation G 42 RTN4R SNP 22 G T 18610012 18610012 Broad HIC2 23119 broad.mit.edu GRCh37 22 21800914 21800914 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000443632.2:c.1730C>T p.Thr577Met p.T577M ENST00000443632 577 aCg/aTg 0 Missense_Mutation C 19 HIC2 SNP 22 C T 20130914 20130914 Broad MYO18B 84700 broad.mit.edu GRCh37 22 26342103 26342103 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000335473.7:c.5518C>G p.Leu1840Val p.L1840V ENST00000335473 NM_032608.5 1840 Ctg/Gtg 0 Missense_Mutation C 28 MYO18B SNP 22 C G 24672103 24672103 Broad TMPRSS6 164656 broad.mit.edu GRCh37 22 37492689 37492689 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000346753.3:c.430G>A p.Gly144Arg p.G144R ENST00000346753 NM_153609.2 144 Ggg/Agg 0 Missense_Mutation C 21 TMPRSS6 SNP 22 C T 35822635 35822635 Broad ADSL 158 broad.mit.edu GRCh37 22 40745999 40745999 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000216194.7:c.317T>C p.Ile106Thr p.I106T ENST00000216194 NM_000026.2 106 aTt/aCt 0 Missense_Mutation T 52 ADSL SNP 22 T C 39075945 39075945 Broad NKIRAS1 28512 broad.mit.edu GRCh37 3 23934735 23934735 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000443659.2:c.430G>A p.Val144Ile p.V144I ENST00000443659 144 Gta/Ata 0 Missense_Mutation C 20 NKIRAS1 SNP 3 C T 23909739 23909739 Broad ZNF620 253639 broad.mit.edu GRCh37 3 40553904 40553904 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000314529.6:c.163A>T p.Thr55Ser p.T55S ENST00000314529 NM_175888.3 55 Acc/Tcc 0 Missense_Mutation A 6 ZNF620 SNP 3 A T 40528908 40528908 Broad DNAH1 25981 broad.mit.edu GRCh37 3 52394004 52394004 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000420323.2:c.4480G>T p.Val1494Phe p.V1494F ENST00000420323 NM_015512.4 1494 Gtc/Ttc 0 Missense_Mutation G 40 DNAH1 SNP 3 G T 52369044 52369044 Broad ITIH1 3697 broad.mit.edu GRCh37 3 52814369 52814369 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000273283.2:c.658A>T p.Thr220Ser p.T220S ENST00000273283 NM_002215.3 220 Act/Tct 0 Missense_Mutation A 2 ITIH1 SNP 3 A T 52789409 52789409 Broad ALCAM 214 broad.mit.edu GRCh37 3 105266316 105266316 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000306107.5:c.1323A>G p.Pro441= p.P441= ENST00000306107 NM_001627.3 441 ccA/ccG 0 Silent A 5 ALCAM SNP 3 A G 106749006 106749006 Broad BBX 56987 broad.mit.edu GRCh37 3 107497277 107497277 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000325805.8:c.2114C>T p.Pro705Leu p.P705L ENST00000325805 705 cCt/cTt 0 Missense_Mutation C 24 BBX SNP 3 C T 108979967 108979967 Broad HTR3E 285242 broad.mit.edu GRCh37 3 183819289 183819289 + intron_variant,non_coding_transcript_variant Intron SNP T T C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000431427.1:n.282+2659A>G *94* ENST00000431427 0 Missense_Mutation T 54 HTR3E SNP 3 T C 185301983 185301983 Broad CLDN16 10686 broad.mit.edu GRCh37 3 190126232 190126232 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000264734.2:c.722C>A p.Ala241Asp p.A241D ENST00000264734 NM_006580.3 241 gCt/gAt 0 Missense_Mutation C 28 CLDN16 SNP 3 C A 191608926 191608926 Broad HTT 3064 broad.mit.edu GRCh37 4 3240337 3240337 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000355072.5:c.9054+1G>T p.X3018_splice ENST00000355072 NM_002111.6 0 Splice_Site_SNP G 44 HTT SNP 4 G T 3210135 3210135 Broad GRID2 2895 broad.mit.edu GRCh37 4 94137990 94137990 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000282020.4:c.891G>T p.Arg297= p.R297= ENST00000282020 NM_001510.2 297 cgG/cgT 0 Silent G 44 GRID2 SNP 4 G T 94357013 94357013 Broad ALPK1 80216 broad.mit.edu GRCh37 4 113353419 113353419 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000458497.1:c.2716A>T p.Thr906Ser p.T906S ENST00000458497 NM_001102406.1 906 Act/Tct 0 Missense_Mutation A 6 ALPK1 SNP 4 A T 113572868 113572868 Broad DCLK2 166614 broad.mit.edu GRCh37 4 151160899 151160899 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000302176.8:c.1623T>G p.Cys541Trp p.C541W ENST00000302176 NM_001040261.4 541 tgT/tgG 0 Missense_Mutation T 59 DCLK2 SNP 4 T G 151380349 151380349 Broad WWC2 80014 broad.mit.edu GRCh37 4 184190299 184190299 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000403733.3:c.2383C>T p.Arg795Ter p.R795* ENST00000403733 NM_024949.5 795 Cga/Tga 0 Nonsense_Mutation C 23 WWC2 SNP 4 C T 184427293 184427293 Broad PCDHA10 56139 broad.mit.edu GRCh37 5 140236992 140236992 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000307360.5:c.1359G>A p.Ala453= p.A453= ENST00000307360 NM_018901.2 453 gcG/gcA 0 Silent G 40 PCDHA10 SNP 5 G A 140217176 140217176 Broad COL11A2 1302 broad.mit.edu GRCh37 6 33140319 33140319 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000374708.4:c.2628A>T p.Lys876Asn p.K876N ENST00000374708 NM_080681.2 876 aaA/aaT 0 Missense_Mutation T 56 COL11A2 SNP 6 T A 33248297 33248297 Broad BRPF3 27154 broad.mit.edu GRCh37 6 36185695 36185695 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000357641.6:c.2991C>T p.Gly997= p.G997= ENST00000357641 NM_015695.2 997 ggC/ggT 0 Silent C 25 BRPF3 SNP 6 C T 36293673 36293673 Broad DNAH8 1769 broad.mit.edu GRCh37 6 38919130 38919130 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000359357.3:c.11634A>T p.Arg3878Ser p.R3878S ENST00000359357 3878 agA/agT 0 Missense_Mutation A 9 DNAH8 SNP 6 A T 39027108 39027108 Broad TAF8 129685 broad.mit.edu GRCh37 6 42045277 42045277 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000372977.3:c.927C>T p.Leu309= p.L309= ENST00000372977 NM_138572.2 309 ctC/ctT 0 Silent C 32 TAF8 SNP 6 C T 42153255 42153255 Broad TDRD6 221400 broad.mit.edu GRCh37 6 46658991 46658991 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000316081.6:c.3126C>G p.Ala1042= p.A1042= ENST00000316081 NM_001010870.2 1042 gcC/gcG 0 Silent C 21 TDRD6 SNP 6 C G 46766950 46766950 Broad MYO6 4646 broad.mit.edu GRCh37 6 76624709 76624709 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000369977.3:c.3838C>G p.Leu1280Val p.L1280V ENST00000369977 NM_004999.3 1280 Ctg/Gtg 0 Missense_Mutation C 28 MYO6 SNP 6 C G 76681429 76681429 Broad KPNA5 3841 broad.mit.edu GRCh37 6 117010599 117010599 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000368564.1:c.121C>A p.Gln41Lys p.Q41K ENST00000368564 41 Caa/Aaa 0 Missense_Mutation C 17 KPNA5 SNP 6 C A 117117292 117117292 Broad TIAM2 26230 broad.mit.edu GRCh37 6 155450439 155450439 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000461783.3:c.82T>G p.Cys28Gly p.C28G ENST00000461783 28 Tgc/Ggc 0 Missense_Mutation T 63 TIAM2 SNP 6 T G 155492131 155492131 Broad ERMARD 55780 broad.mit.edu GRCh37 6 170168266 170168266 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000366773.3:c.1058T>C p.Met353Thr p.M353T ENST00000366773 NM_018341.2 353 aTg/aCg 0 Missense_Mutation T 51 C6orf70 SNP 6 T C 169910191 169910191 Broad FAM220A 84792 broad.mit.edu GRCh37 7 6370337 6370337 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000313324.4:c.449C>A p.Pro150His p.P150H ENST00000313324 NM_001037163.1 150 cCt/cAt 0 Missense_Mutation G 35 C7ORF70 SNP 7 G T 6336862 6336862 Broad GHRHR 2692 broad.mit.edu GRCh37 7 31013649 31013649 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000326139.2:c.647A>C p.Asn216Thr p.N216T ENST00000326139 NM_000823.3 216 aAc/aCc 0 Missense_Mutation A 2 GHRHR SNP 7 A C 30980174 30980174 Broad SEMA3D 223117 broad.mit.edu GRCh37 7 84636125 84636125 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000284136.6:c.1901G>C p.Arg634Pro p.R634P ENST00000284136 NM_152754.2 634 cGa/cCa 0 Missense_Mutation C 31 SEMA3D SNP 7 C G 84474061 84474061 Broad ADAM22 53616 broad.mit.edu GRCh37 7 87763699 87763699 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265727.7:c.1133T>C p.Ile378Thr p.I378T ENST00000265727 378 aTt/aCt 0 Missense_Mutation T 52 ADAM22 SNP 7 T C 87601635 87601635 Broad ZNF804B 219578 broad.mit.edu GRCh37 7 88963451 88963451 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000333190.4:c.1155T>A p.Asp385Glu p.D385E ENST00000333190 NM_181646.2 385 gaT/gaA 0 Missense_Mutation T 51 ZNF804B SNP 7 T A 88801387 88801387 Broad ASIC3 9311 broad.mit.edu GRCh37 7 150747657 150747657 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000297512.8:c.775C>T p.Pro259Ser p.P259S ENST00000297512 259 Ccg/Tcg 0 Missense_Mutation C 22 ACCN3 SNP 7 C T 150378590 150378590 Broad MYOM2 9172 broad.mit.edu GRCh37 8 2063847 2063847 + synonymous_variant Silent SNP T T A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000262113.4:c.3276T>A p.Ile1092= p.I1092= ENST00000262113 NM_003970.2 1092 atT/atA 0 Silent T 62 MYOM2 SNP 8 T A 2051254 2051254 Broad CSMD1 64478 broad.mit.edu GRCh37 8 2820040 2820040 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000537824.1:c.9576A>T p.Arg3192Ser p.R3192S ENST00000537824 NM_033225.5 3192 agA/agT 0 Missense_Mutation T 62 CSMD1 SNP 8 T A 2807447 2807447 Broad REEP4 80346 broad.mit.edu GRCh37 8 21996239 21996239 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000306306.3:c.621C>G p.Val207= p.V207= ENST00000306306 NM_025232.2 207 gtC/gtG 0 Silent G 41 REEP4 SNP 8 G C 22052184 22052184 Broad PKHD1L1 93035 broad.mit.edu GRCh37 8 110451188 110451188 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000378402.5:c.3823G>A p.Val1275Met p.V1275M ENST00000378402 NM_177531.4 1275 Gtg/Atg 0 Missense_Mutation G 44 PKHD1L1 SNP 8 G A 110520364 110520364 Broad CYP11B1 1584 broad.mit.edu GRCh37 8 143957130 143957130 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000292427.4:c.1119G>T p.Leu373Phe p.L373F ENST00000292427 NM_000497.3 373 ttG/ttT 0 Missense_Mutation C 25 CYP11B1 SNP 8 C A 143954132 143954132 Broad FOCAD 54914 broad.mit.edu GRCh37 9 20953038 20953038 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000380249.1:c.4106G>A p.Gly1369Asp p.G1369D ENST00000380249 NM_017794.3 1369 gGc/gAc 0 Missense_Mutation G 42 KIAA1797 SNP 9 G A 20943038 20943038 Broad MXRA5 25878 broad.mit.edu GRCh37 X 3228653 3228653 + missense_variant Missense_Mutation SNP G G C rs1726208 byCluster;byFrequency;by1000genomes TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000217939.6:c.7591C>G p.Leu2531Val p.L2531V ENST00000217939 NM_015419.3 2531 Ctg/Gtg 0 Missense_Mutation G 35 MXRA5 SNP 23 G C 3238653 3238653 Broad KIF4A 24137 broad.mit.edu GRCh37 X 69563732 69563732 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000374403.3:c.1331A>C p.Lys444Thr p.K444T ENST00000374403 NM_012310.4 444 aAa/aCa 0 Missense_Mutation A 1 KIF4A SNP 23 A C 69480457 69480457 Broad NOX1 27035 broad.mit.edu GRCh37 X 100117759 100117759 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000372966.3:c.388C>A p.Arg130= p.R130= ENST00000372966 NM_001271815.1 130 Cga/Aga 0 Silent G 39 NOX1 SNP 23 G T 100004415 100004415 Broad ARL13A 392509 broad.mit.edu GRCh37 X 100240796 100240796 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000450049.2:c.271G>T p.Gly91Trp p.G91W ENST00000450049 NM_001162491.1 91 Ggg/Tgg 0 Missense_Mutation G 47 ARL13A SNP 23 G T 100127452 100127452 Broad ATP6AP1 537 broad.mit.edu GRCh37 X 153664134 153664134 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369762.2:c.1310T>C p.Leu437Pro p.L437P ENST00000369762 NM_001183.4 437 cTc/cCc 0 Missense_Mutation T 54 ATP6AP1 SNP 23 T C 153317328 153317328 Broad IKBKG 8517 broad.mit.edu GRCh37 X 153770592 153770592 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown x x x ENST00000369609.5:c.114G>A p.Glu38= p.E38= ENST00000369609 NM_001099856.2 38 gaG/gaA 0 Silent G 35 IKBKG SNP 23 G A 153423786 153423786 Broad NEB 4703 broad.mit.edu GRCh37 2 152397960 152397960 + splice_donor_variant Splice_Site DEL C C - novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000397345.3:c.20682+1del p.X6894_splice ENST00000397345 NM_001164508.1 0 Splice_Site_Del C 18 NEB DEL 2 - C 152106206 152106206 Broad SETD5 55209 broad.mit.edu GRCh37 3 9512512 9512513 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-23-1122-01 TCGA-23-1122-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000402198.1:c.3094_3095insA p.Gly1032GlufsTer16 p.G1032Efs*16 ENST00000402198 NM_001080517.1 1032 ggc/gAgc 0 Frame_Shift_Ins - 47 SETD5 INS 3 A - 9487513 9487512 Broad CA6 765 broad.mit.edu GRCh37 1 9017331 9017331 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000377436.3:c.395G>C p.Arg132Thr p.R132T ENST00000377436 NM_001270500.1 132 aGa/aCa 0 Missense_Mutation G 33 CA6 SNP 1 G C 8939918 8939918 Broad IGSF21 84966 broad.mit.edu GRCh37 1 18692118 18692118 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000251296.1:c.942C>A p.Asp314Glu p.D314E ENST00000251296 NM_032880.4 314 gaC/gaA 0 Missense_Mutation C 17 IGSF21 SNP 1 C A 18564705 18564705 Broad COL16A1 1307 broad.mit.edu GRCh37 1 32163561 32163561 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000373672.3:c.603G>T p.Arg201Ser p.R201S ENST00000373672 NM_001856.3 201 agG/agT 0 Missense_Mutation C 26 COL16A1 SNP 1 C A 31936148 31936148 Broad FOXJ3 22887 broad.mit.edu GRCh37 1 42693625 42693625 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000372572.1:c.457G>T p.Ala153Ser p.A153S ENST00000372572 NM_001198851.1 153 Gca/Tca 0 Missense_Mutation C 26 FOXJ3 SNP 1 C A 42466212 42466212 Broad C8A 731 broad.mit.edu GRCh37 1 57340626 57340626 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000361249.3:c.176G>A p.Arg59Gln p.R59Q ENST00000361249 NM_000562.2 59 cGa/cAa 0 Missense_Mutation G 37 C8A SNP 1 G A 57113214 57113214 Broad MAGI3 260425 broad.mit.edu GRCh37 1 114201761 114201761 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000307546.9:c.2689C>G p.Leu897Val p.L897V ENST00000307546 NM_001142782.1 897 Ctg/Gtg 0 Missense_Mutation C 20 MAGI3 SNP 1 C G 114003284 114003284 Broad TDRKH 11022 broad.mit.edu GRCh37 1 151755434 151755434 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000368822.1:c.65G>T p.Gly22Val p.G22V ENST00000368822 22 gGg/gTg 0 Missense_Mutation C 22 TDRKH SNP 1 C A 150022058 150022058 Broad POGK 57645 broad.mit.edu GRCh37 1 166819349 166819349 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000367875.1:c.1533C>A p.Tyr511Ter p.Y511* ENST00000367875 511 taC/taA 0 Nonsense_Mutation C 17 POGK SNP 1 C A 165085973 165085973 Broad TNN 63923 broad.mit.edu GRCh37 1 175097258 175097258 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000239462.4:c.3136G>A p.Gly1046Ser p.G1046S ENST00000239462 NM_022093.1 1046 Ggt/Agt 0 Missense_Mutation G 43 TNN SNP 1 G A 173363881 173363881 Broad CRB1 23418 broad.mit.edu GRCh37 1 197390742 197390742 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000367400.3:c.1784C>G p.Ala595Gly p.A595G ENST00000367400 NM_201253.2 595 gCt/gGt 0 Missense_Mutation C 28 CRB1 SNP 1 C G 195657365 195657365 Broad PROX1 5629 broad.mit.edu GRCh37 1 214170701 214170701 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000366958.4:c.823T>A p.Ser275Thr p.S275T ENST00000366958 NM_001270616.1 275 Tct/Act 0 Missense_Mutation T 58 PROX1 SNP 1 T A 212237324 212237324 Broad OR2T6 254879 broad.mit.edu GRCh37 1 248551173 248551173 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000355728.2:c.264C>T p.Gly88= p.G88= ENST00000355728 NM_001005471.1 88 ggC/ggT 0 Silent C 27 OR2T6 SNP 1 C T 246617796 246617796 Broad FRMD4A 55691 broad.mit.edu GRCh37 10 13803657 13803657 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000357447.2:c.454G>T p.Asp152Tyr p.D152Y ENST00000357447 NM_018027.3 152 Gat/Tat 0 Missense_Mutation C 32 FRMD4A SNP 10 C A 13843663 13843663 Broad HTR7 3363 broad.mit.edu GRCh37 10 92509273 92509273 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000336152.3:c.618C>T p.Val206= p.V206= ENST00000336152 NM_019859.3 206 gtC/gtT 0 Silent G 33 HTR7 SNP 10 G A 92499253 92499253 Broad NOLC1 9221 broad.mit.edu GRCh37 10 103919250 103919250 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000605788.1:c.784C>T p.Arg262Trp p.R262W ENST00000605788 NM_004741.3 262 Cgg/Tgg 0 Missense_Mutation C 23 NOLC1 SNP 10 C T 103909240 103909240 Broad SOX6 55553 broad.mit.edu GRCh37 11 15994567 15994567 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000396356.3:c.2215A>G p.Thr739Ala p.T739A ENST00000396356 NM_033326.3 739 Aca/Gca 0 Missense_Mutation T 58 SOX6 SNP 11 T C 15951143 15951143 Broad CAPN1 823 broad.mit.edu GRCh37 11 64950667 64950667 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000527323.1:c.336G>A p.Leu112= p.L112= ENST00000527323 112 ctG/ctA 0 Silent G 47 CAPN1 SNP 11 G A 64707243 64707243 Broad TENM4 26011 broad.mit.edu GRCh37 11 78383367 78383367 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000278550.7:c.5504A>T p.Asn1835Ile p.N1835I ENST00000278550 NM_001098816.2 1835 aAc/aTc 0 Missense_Mutation T 60 ODZ4 SNP 11 T A 78061015 78061015 Broad GUCY1A2 2977 broad.mit.edu GRCh37 11 106647285 106647285 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000282249.2:c.1716C>T p.Tyr572= p.Y572= ENST00000282249 NM_001256424.1 572 taC/taT 0 Silent G 36 GUCY1A2 SNP 11 G A 106152495 106152495 Broad CD163 9332 broad.mit.edu GRCh37 12 7637853 7637853 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000359156.4:c.2618G>A p.Gly873Glu p.G873E ENST00000359156 NM_004244.5 873 gGg/gAg 0 Missense_Mutation C 22 CD163 SNP 12 C T 7529120 7529120 Broad PDZRN4 29951 broad.mit.edu GRCh37 12 41946499 41946499 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000402685.2:c.1245C>A p.Gly415= p.G415= ENST00000402685 NM_001164595.1 415 ggC/ggA 0 Silent C 26 PDZRN4 SNP 12 C A 40232766 40232766 Broad GALNT6 11226 broad.mit.edu GRCh37 12 51773357 51773357 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000543196.2:c.209A>G p.Lys70Arg p.K70R ENST00000543196 70 aAg/aGg 0 Missense_Mutation T 56 GALNT6 SNP 12 T C 50059624 50059624 Broad KRT72 140807 broad.mit.edu GRCh37 12 52984693 52984693 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000293745.2:c.1016C>A p.Thr339Asn p.T339N ENST00000293745 NM_080747.2 339 aCc/aAc 0 Missense_Mutation G 44 KRT72 SNP 12 G T 51270960 51270960 Broad C12orf50 160419 broad.mit.edu GRCh37 12 88391944 88391944 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000298699.2:c.157C>T p.Gln53Ter p.Q53* ENST00000298699 NM_152589.1 53 Cag/Tag 0 Nonsense_Mutation G 45 C12orf50 SNP 12 G A 86916075 86916075 Broad PXN 5829 broad.mit.edu GRCh37 12 120650286 120650286 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000267257.7:c.1649C>A p.Ser550Tyr p.S550Y ENST00000267257 NM_001243756.1 550 tCt/tAt 0 Missense_Mutation G 33 PXN SNP 12 G T 119134669 119134669 Broad DNAH10 196385 broad.mit.edu GRCh37 12 124395163 124395163 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000409039.3:c.9724G>A p.Glu3242Lys p.E3242K ENST00000409039 NM_207437.3 3242 Gaa/Aaa 0 Missense_Mutation G 45 DNAH10 SNP 12 G A 122961116 122961116 Broad FRY 10129 broad.mit.edu GRCh37 13 32835801 32835801 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000380250.3:c.7465G>T p.Asp2489Tyr p.D2489Y ENST00000380250 NM_023037.2 2489 Gac/Tac 0 Missense_Mutation G 41 FRY SNP 13 G T 31733801 31733801 Broad SCEL 8796 broad.mit.edu GRCh37 13 78177254 78177254 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000349847.3:c.1081C>T p.His361Tyr p.H361Y ENST00000349847 NM_144777.2 361 Cat/Tat 0 Missense_Mutation C 17 SCEL SNP 13 C T 77075255 77075255 Broad TRIP11 9321 broad.mit.edu GRCh37 14 92439176 92439176 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000267622.4:c.5604A>T p.Leu1868= p.L1868= ENST00000267622 NM_004239.3 1868 ctA/ctT 0 Silent T 53 TRIP11 SNP 14 T A 91508929 91508929 Broad FRMD5 84978 broad.mit.edu GRCh37 15 44166269 44166269 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000417257.1:c.1527G>A p.Met509Ile p.M509I ENST00000417257 NM_032892.3 509 atG/atA 0 Missense_Mutation C 21 FRMD5 SNP 15 C T 41953561 41953561 Broad UNC13C 440279 broad.mit.edu GRCh37 15 54838962 54838962 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000260323.11:c.5739G>C p.Lys1913Asn p.K1913N ENST00000260323 NM_001080534.1 1913 aaG/aaC 0 Missense_Mutation G 34 UNC13C SNP 15 G C 52626254 52626254 Broad RRN3 54700 broad.mit.edu GRCh37 16 15168715 15168715 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000198767.6:c.862G>A p.Glu288Lys p.E288K ENST00000198767 NM_018427.3 288 Gaa/Aaa 0 Missense_Mutation C 29 RRN3 SNP 16 C T 15076216 15076216 Broad TP53 7157 broad.mit.edu GRCh37 17 7578263 7578263 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.586C>T p.Arg196Ter p.R196* ENST00000269305 NM_001126112.2 196 Cga/Tga 0 Nonsense_Mutation G 39 TP53 SNP 17 G A 7518988 7518988 Broad ASIC2 40 broad.mit.edu GRCh37 17 31352992 31352992 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000225823.2:c.1147C>A p.Pro383Thr p.P383T ENST00000225823 NM_183377.1 383 Cct/Act 0 Missense_Mutation G 43 ACCN1 SNP 17 G T 28377105 28377105 Broad DSC1 1823 broad.mit.edu GRCh37 18 28734801 28734801 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000257198.5:c.563A>G p.Glu188Gly p.E188G ENST00000257198 NM_024421.2 188 gAg/gGg 0 Missense_Mutation T 54 DSC1 SNP 18 T C 26988799 26988799 Broad KLHL14 57565 broad.mit.edu GRCh37 18 30260447 30260447 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000359358.4:c.1354C>T p.Arg452Cys p.R452C ENST00000359358 NM_020805.1 452 Cgc/Tgc 0 Missense_Mutation G 38 KLHL14 SNP 18 G A 28514445 28514445 Broad ALPK2 115701 broad.mit.edu GRCh37 18 56203991 56203991 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000361673.3:c.3428C>G p.Ser1143Cys p.S1143C ENST00000361673 NM_052947.3 1143 tCc/tGc 0 Missense_Mutation G 41 ALPK2 SNP 18 G C 54354971 54354971 Broad TIMM44 10469 broad.mit.edu GRCh37 19 7997585 7997585 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000270538.3:c.914G>A p.Arg305Gln p.R305Q ENST00000270538 NM_006351.3 305 cGg/cAg 0 Missense_Mutation C 23 TIMM44 SNP 19 C T 7903585 7903585 Broad ZNF266 10781 broad.mit.edu GRCh37 19 9524703 9524703 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000592904.1:c.898G>A p.Glu300Lys p.E300K ENST00000592904 300 Gaa/Aaa 0 Missense_Mutation C 30 ZNF266 SNP 19 C T 9385703 9385703 Broad OR7C2 26658 broad.mit.edu GRCh37 19 15052699 15052699 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000248072.3:c.399G>A p.Thr133= p.T133= ENST00000248072 NM_012377.1 133 acG/acA 0 Silent G 39 OR7C2 SNP 19 G A 14913699 14913699 Broad GPI 2821 broad.mit.edu GRCh37 19 34887243 34887243 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000415930.3:c.1133C>G p.Ser378Cys p.S378C ENST00000415930 NM_001184722.1 378 tCt/tGt 0 Missense_Mutation C 32 GPI SNP 19 C G 39579083 39579083 Broad ZNF615 284370 broad.mit.edu GRCh37 19 52496396 52496396 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000594083.1:c.1966T>A p.Phe656Ile p.F656I ENST00000594083 656 Ttt/Att 0 Missense_Mutation A 4 ZNF615 SNP 19 A T 57188208 57188208 Broad OSR1 130497 broad.mit.edu GRCh37 2 19552055 19552055 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000536433.1:c.782C>A p.Thr261Asn p.T261N ENST00000536433 261 aCc/aAc 0 Missense_Mutation G 44 OSR1 SNP 2 G T 19415536 19415536 Broad GALNT13 114805 broad.mit.edu GRCh37 2 155252586 155252586 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000392825.3:c.1240C>A p.Leu414Ile p.L414I ENST00000392825 NM_052917.2 414 Cta/Ata 0 Missense_Mutation C 24 GALNT13 SNP 2 C A 154960832 154960832 Broad ZNF804A 91752 broad.mit.edu GRCh37 2 185800773 185800773 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000302277.6:c.650C>A p.Ala217Glu p.A217E ENST00000302277 NM_194250.1 217 gCa/gAa 0 Missense_Mutation C 25 ZNF804A SNP 2 C A 185509018 185509018 Broad ANKRD44 91526 broad.mit.edu GRCh37 2 197951416 197951416 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000282272.8:c.1280A>T p.Asp427Val p.D427V ENST00000282272 NM_001195144.1 427 gAc/gTc 0 Missense_Mutation T 58 ANKRD44 SNP 2 T A 197659661 197659661 Broad MAP2 4133 broad.mit.edu GRCh37 2 210560575 210560575 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000360351.4:c.3681T>A p.Ser1227= p.S1227= ENST00000360351 NM_002374.3 1227 tcT/tcA 0 Silent T 55 MAP2 SNP 2 T A 210268820 210268820 Broad TGM6 343641 broad.mit.edu GRCh37 20 2398128 2398128 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000202625.2:c.1587C>G p.Val529= p.V529= ENST00000202625 NM_198994.2 529 gtC/gtG 0 Silent C 29 TGM6 SNP 20 C G 2346128 2346128 Broad PDZRN3 23024 broad.mit.edu GRCh37 3 73434831 73434831 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000263666.4:c.1624G>C p.Val542Leu p.V542L ENST00000263666 NM_015009.1 542 Gtg/Ctg 0 Missense_Mutation C 19 PDZRN3 SNP 3 C G 73517521 73517521 Broad WDFY3 23001 broad.mit.edu GRCh37 4 85623611 85623611 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000295888.4:c.8491G>T p.Ala2831Ser p.A2831S ENST00000295888 NM_014991.4 2831 Gcc/Tcc 0 Missense_Mutation C 26 WDFY3 SNP 4 C A 85842635 85842635 Broad FRG2 448831 broad.mit.edu GRCh37 4 190948206 190948206 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000378763.1:c.154A>T p.Ser52Cys p.S52C ENST00000378763 NM_001005217.1 52 Agt/Tgt 0 Missense_Mutation T 55 FRG2 SNP 4 T A 191185200 191185200 Broad C5orf42 65250 broad.mit.edu GRCh37 5 37198855 37198855 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000425232.2:c.3621A>T p.Val1207= p.V1207= ENST00000425232 NM_023073.3 1207 gtA/gtT 0 Silent T 53 C5orf42 SNP 5 T A 37234612 37234612 Broad PCDHB13 56123 broad.mit.edu GRCh37 5 140594357 140594357 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000341948.4:c.662C>T p.Pro221Leu p.P221L ENST00000341948 NM_018933.2 221 cCg/cTg 0 Missense_Mutation C 23 PCDHB13 SNP 5 C T 140574541 140574541 Broad CDHR2 54825 broad.mit.edu GRCh37 5 176003151 176003151 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000510636.1:c.1159G>A p.Asp387Asn p.D387N ENST00000510636 NM_001171976.1 387 Gat/Aat 0 Missense_Mutation G 37 CDHR2 SNP 5 G A 175935757 175935757 Broad HIST1H4K 8362 broad.mit.edu GRCh37 6 27799108 27799108 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000357549.2:c.198G>A p.Val66= p.V66= ENST00000357549 NM_003541.2 66 gtG/gtA 0 Silent C 29 HIST1H4K SNP 6 C T 27907087 27907087 Broad MAS1L 116511 broad.mit.edu GRCh37 6 29455289 29455289 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000377127.3:c.391T>C p.Leu131= p.L131= ENST00000377127 NM_052967.1 131 Tta/Cta 0 Silent A 3 MAS1L SNP 6 A G 29563268 29563268 Broad MDC1 9656 broad.mit.edu GRCh37 6 30671996 30671996 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000376406.3:c.4964C>G p.Pro1655Arg p.P1655R ENST00000376406 NM_014641.2 1655 cCa/cGa 0 Missense_Mutation G 47 MDC1 SNP 6 G C 30779975 30779975 Broad TNXB 7148 broad.mit.edu GRCh37 6 32053728 32053728 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000375244.3:c.2947G>T p.Ala983Ser p.A983S ENST00000375244 983 Gcc/Tcc 0 Missense_Mutation C 27 TNXB SNP 6 C A 32161706 32161706 Broad SLC26A8 116369 broad.mit.edu GRCh37 6 35987297 35987297 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000490799.1:c.188G>C p.Arg63Pro p.R63P ENST00000490799 NM_052961.3 63 cGc/cCc 0 Missense_Mutation C 23 SLC26A8 SNP 6 C G 36095275 36095275 Broad TFAP2D 83741 broad.mit.edu GRCh37 6 50718993 50718993 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000008391.3:c.1095T>C p.Thr365= p.T365= ENST00000008391 NM_172238.3 365 acT/acC 0 Silent T 54 TFAP2D SNP 6 T C 50826952 50826952 Broad GRIK2 2898 broad.mit.edu GRCh37 6 102516286 102516286 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000421544.1:c.2627A>C p.Lys876Thr p.K876T ENST00000421544 NM_021956.4 876 aAa/aCa 0 Missense_Mutation A 1 GRIK2 SNP 6 A C 102622979 102622979 Broad TNFAIP3 7128 broad.mit.edu GRCh37 6 138202410 138202410 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000237289.4:c.2327A>G p.Asn776Ser p.N776S ENST00000237289 NM_001270507.1 776 aAc/aGc 0 Missense_Mutation A 2 TNFAIP3 SNP 6 A G 138244103 138244103 Broad KCTD7 154881 broad.mit.edu GRCh37 7 66104165 66104165 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000275532.3:c.816G>C p.Val272= p.V272= ENST00000275532 NM_153033.4 272 gtG/gtC 0 Silent G 45 KCTD7 SNP 7 G C 65741600 65741600 Broad CACNA2D1 781 broad.mit.edu GRCh37 7 81598283 81598283 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000356860.3:c.2315G>A p.Gly772Glu p.G772E ENST00000356860 NM_000722.2 772 gGa/gAa 0 Missense_Mutation C 30 CACNA2D1 SNP 7 C T 81436219 81436219 Broad NAT16 375607 broad.mit.edu GRCh37 7 100815616 100815616 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000300303.2:c.854C>A p.Pro285His p.P285H ENST00000300303 NM_198571.2 285 cCc/cAc 0 Missense_Mutation G 43 C7orf52 SNP 7 G T 100602336 100602336 Broad SLC26A3 1811 broad.mit.edu GRCh37 7 107423769 107423769 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000340010.5:c.1000G>C p.Glu334Gln p.E334Q ENST00000340010 NM_000111.2 334 Gag/Cag 0 Missense_Mutation C 30 SLC26A3 SNP 7 C G 107211005 107211005 Broad PLXNA4 91584 broad.mit.edu GRCh37 7 132193188 132193188 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000359827.3:c.265G>T p.Asp89Tyr p.D89Y ENST00000359827 89 Gac/Tac 0 Missense_Mutation C 30 PLXNA4 SNP 7 C A 131843728 131843728 Broad GPR21 2844 broad.mit.edu GRCh37 9 125797414 125797414 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000373642.1:c.569A>G p.Tyr190Cys p.Y190C ENST00000373642 NM_005294.2 190 tAc/tGc 0 Missense_Mutation A 14 GPR21 SNP 9 A G 124837235 124837235 Broad GDPD2 54857 broad.mit.edu GRCh37 X 69646529 69646529 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000453994.2:c.494C>T p.Ala165Val p.A165V ENST00000453994 NM_001171192.1 165 gCc/gTc 0 Missense_Mutation C 26 GDPD2 SNP 23 C T 69563254 69563254 Broad SLC16A2 6567 broad.mit.edu GRCh37 X 73751290 73751290 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000587091.1:c.1522G>A p.Glu508Lys p.E508K ENST00000587091 NM_006517.4 508 Gag/Aag 0 Missense_Mutation G 33 SLC16A2 SNP 23 G A 73668015 73668015 Broad ESX1 80712 broad.mit.edu GRCh37 X 103495039 103495039 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown x x x ENST00000372588.4:c.1091C>T p.Ala364Val p.A364V ENST00000372588 NM_153448.3 364 gCg/gTg 0 Missense_Mutation G 38 ESX1 SNP 23 G A 103381695 103381695 Broad SKIDA1 387640 broad.mit.edu GRCh37 10 21805466 21805467 + inframe_insertion In_Frame_Ins INS - - CCTCCT novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000449193.2:c.1280_1285dupAGGAGG p.Glu427_Glu428dup p.E427_E428dup ENST00000449193 NM_207371.3 429 ggg/gAGGAGGgg 0 In_Frame_Ins - 22 C10orf140 INS 10 CCTCCT - 21845473 21845472 Broad TGIF1 7050 broad.mit.edu GRCh37 18 3452223 3452223 + frameshift_variant Frame_Shift_Del DEL T T - rs11571510 byCluster TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000330513.5:c.246delT p.Pro83LeufsTer51 p.P83Lfs*51 ENST00000330513 NM_170695.3 82 ccT/cc 0 Frame_Shift_Del T 54 TGIF1 DEL 18 - T 3442223 3442223 Broad CHDH 55349 broad.mit.edu GRCh37 3 53852048 53852049 + frameshift_variant Frame_Shift_Del DEL CA CA - novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 - CA CA CA Unknown Valid Somatic Phase_I Capture Illumina GAIIx ENST00000315251.6:c.1540_1541del p.Cys514HisfsTer3 p.C514Hfs*3 ENST00000315251 NM_018397.4 514 TGc/c 0 Frame_Shift_Del CA 25 CHDH DEL 3 - CA 53827089 53827088 Broad L3MBTL3 84456 broad.mit.edu GRCh37 6 130460796 130460825 + inframe_deletion In_Frame_Del DEL CATTGTTAAAATTATGAGCATTAAACTGGG CATTGTTAAAATTATGAGCATTAAACTGGG - novel Unknown TCGA-13-0916-01 TCGA-13-0916-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000529410.1:c.2242_2271del p.Ile748_Gly757del p.I748_G757del ENST00000529410 747 gaCATTGTTAAAATTATGAGCATTAAACTGGGc/gac 0 In_Frame_Del CATTGTTAAAATTATGAGCATTAAACTGGG 17 L3MBTL3 DEL 6 - CATTGTTAAAATTATGAGCATTAAACTGGG 130502518 130502489 Broad PLCH2 9651 broad.mit.edu GRCh37 1 2420688 2420688 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000449969.1:c.1197C>G p.Ile399Met p.I399M ENST00000449969 399 atC/atG 0 Missense_Mutation C 30 PLCH2 SNP 1 C G 2410548 2410548 Broad CRNN 49860 broad.mit.edu GRCh37 1 152382720 152382720 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000271835.3:c.838C>A p.Gln280Lys p.Q280K ENST00000271835 NM_016190.2 280 Cag/Aag 0 Missense_Mutation G 47 CRNN SNP 1 G T 150649344 150649344 Broad NTRK1 4914 broad.mit.edu GRCh37 1 156846212 156846212 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000524377.1:c.1653G>A p.Glu551= p.E551= ENST00000524377 NM_002529.3 551 gaG/gaA 0 Silent G 33 NTRK1 SNP 1 G A 155112836 155112836 Broad ANXA7 310 broad.mit.edu GRCh37 10 75156305 75156305 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000372919.4:c.407C>G p.Pro136Arg p.P136R ENST00000372919 NM_004034.2 136 cCt/cGt 0 Missense_Mutation G 35 ANXA7 SNP 10 G C 74826311 74826311 Broad LCOR 84458 broad.mit.edu GRCh37 10 98708852 98708852 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000371097.4:c.38C>T p.Thr13Ile p.T13I ENST00000371097 13 aCc/aTc 0 Missense_Mutation C 18 LCOR SNP 10 C T 98698842 98698842 Broad RRP12 23223 broad.mit.edu GRCh37 10 99150572 99150572 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000370992.4:c.560T>A p.Phe187Tyr p.F187Y ENST00000370992 NM_015179.3 187 tTc/tAc 0 Missense_Mutation A 9 RRP12 SNP 10 A T 99140562 99140562 Broad CRTAC1 55118 broad.mit.edu GRCh37 10 99667899 99667899 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000370597.3:c.721C>T p.Arg241Ter p.R241* ENST00000370597 NM_018058.6 241 Cga/Tga 0 Nonsense_Mutation G 39 CRTAC1 SNP 10 G A 99657889 99657889 Broad PPRC1 23082 broad.mit.edu GRCh37 10 103897627 103897627 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000278070.2:c.174G>A p.Ala58= p.A58= ENST00000278070 NM_015062.3 58 gcG/gcA 0 Silent G 39 PPRC1 SNP 10 G A 103887617 103887617 Broad OBFC1 79991 broad.mit.edu GRCh37 10 105648867 105648867 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000224950.3:c.912C>G p.Ile304Met p.I304M ENST00000224950 NM_024928.4 304 atC/atG 0 Missense_Mutation G 41 OBFC1 SNP 10 G C 105638857 105638857 Broad KIAA1549L 25758 broad.mit.edu GRCh37 11 33566506 33566506 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000321505.4:c.2076C>T p.Ala692= p.A692= ENST00000321505 692 gcC/gcT 0 Silent C 23 C11orf41 SNP 11 C T 33523082 33523082 Broad CABP4 57010 broad.mit.edu GRCh37 11 67225881 67225881 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000325656.5:c.691C>T p.Leu231= p.L231= ENST00000325656 NM_145200.3 231 Ctg/Ttg 0 Silent C 28 CABP4 SNP 11 C T 66982457 66982457 Broad XRRA1 143570 broad.mit.edu GRCh37 11 74556116 74556116 + splice_donor_variant Splice_Site SNP A A G novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000340360.6:c.1903+2T>C p.X635_splice ENST00000340360 NM_182969.2 0 Splice_Site_SNP A 14 XRRA1 SNP 11 A G 74233764 74233764 Broad SLC37A2 219855 broad.mit.edu GRCh37 11 124950579 124950579 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000308074.4:c.597C>A p.Ala199= p.A199= ENST00000308074 NM_198277.2 199 gcC/gcA 0 Silent C 23 SLC37A2 SNP 11 C A 124455789 124455789 Broad LRFN5 145581 broad.mit.edu GRCh37 14 42357161 42357161 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000298119.4:c.1333C>T p.Arg445Cys p.R445C ENST00000298119 NM_152447.3 445 Cgt/Tgt 0 Missense_Mutation C 19 LRFN5 SNP 14 C T 41426911 41426911 Broad KCNH5 27133 broad.mit.edu GRCh37 14 63175122 63175122 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000322893.7:c.2071C>T p.Arg691Trp p.R691W ENST00000322893 NM_139318.4 691 Cgg/Tgg 0 Missense_Mutation G 39 KCNH5 SNP 14 G A 62244875 62244875 Broad NUTM1 256646 broad.mit.edu GRCh37 15 34648854 34648854 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000333756.4:c.2561C>T p.Ser854Phe p.S854F ENST00000333756 NM_175741.1 854 tCc/tTc 0 Missense_Mutation C 30 C15orf55 SNP 15 C T 32436146 32436146 Broad ITFG1 81533 broad.mit.edu GRCh37 16 47292619 47292619 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000320640.6:c.1254A>G p.Gly418= p.G418= ENST00000320640 NM_030790.3 418 ggA/ggG 0 Silent T 50 ITFG1 SNP 16 T C 45850120 45850120 Broad CES3 23491 broad.mit.edu GRCh37 16 67000733 67000733 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000303334.4:c.1027G>T p.Val343Phe p.V343F ENST00000303334 NM_024922.5 343 Gtc/Ttc 0 Missense_Mutation G 48 CES3 SNP 16 G T 65558234 65558234 Broad TAT 6898 broad.mit.edu GRCh37 16 71604176 71604176 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000355962.4:c.1037T>G p.Leu346Arg p.L346R ENST00000355962 NM_000353.2 346 cTc/cGc 0 Missense_Mutation A 11 TAT SNP 16 A C 70161677 70161677 Broad TP53 7157 broad.mit.edu GRCh37 17 7577581 7577581 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.700T>A p.Tyr234Asn p.Y234N ENST00000269305 NM_001126112.2 234 Tac/Aac 0 Missense_Mutation A 15 TP53 SNP 17 A T 7518306 7518306 Broad ZPBP2 124626 broad.mit.edu GRCh37 17 38029310 38029310 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000348931.4:c.639G>A p.Ala213= p.A213= ENST00000348931 NM_199321.2 213 gcG/gcA 0 Silent G 38 ZPBP2 SNP 17 G A 35282836 35282836 Broad SEPT9 10801 broad.mit.edu GRCh37 17 75484371 75484371 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000427177.1:c.1092A>T p.Pro364= p.P364= ENST00000427177 NM_001113491.1 364 ccA/ccT 0 Silent A 7 SEPT9 SNP 17 A T 72995966 72995966 Broad MBD3 53615 broad.mit.edu GRCh37 19 1578479 1578479 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000156825.1:c.736G>C p.Asp246His p.D246H ENST00000156825 246 Gac/Cac 0 Missense_Mutation C 31 MBD3 SNP 19 C G 1529479 1529479 Broad ZNF77 58492 broad.mit.edu GRCh37 19 2933602 2933602 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000314531.4:c.1523G>A p.Arg508His p.R508H ENST00000314531 NM_021217.2 508 cGt/cAt 0 Missense_Mutation C 19 ZNF77 SNP 19 C T 2884602 2884602 Broad ASNA1 439 broad.mit.edu GRCh37 19 12858090 12858090 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000591090.1:c.689G>A p.Arg230His p.R230H ENST00000591090 230 cGc/cAc 0 Missense_Mutation G 38 ASNA1 SNP 19 G A 12719090 12719090 Broad NDUFB7 4713 broad.mit.edu GRCh37 19 14677058 14677058 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000215565.2:c.301G>A p.Glu101Lys p.E101K ENST00000215565 NM_004146.5 101 Gag/Aag 0 Missense_Mutation C 30 NDUFB7 SNP 19 C T 14538058 14538058 Broad USP29 57663 broad.mit.edu GRCh37 19 57640874 57640874 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000254181.4:c.831C>A p.Asp277Glu p.D277E ENST00000254181 NM_020903.2 277 gaC/gaA 0 Missense_Mutation C 20 USP29 SNP 19 C A 62332686 62332686 Broad TTN 7273 broad.mit.edu GRCh37 2 179457540 179457540 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000589042.1:c.59306C>T p.Ala19769Val p.A19769V ENST00000589042 NM_001267550.1 19769 gCt/gTt 0 Missense_Mutation G 34 TTN SNP 2 G A 179165786 179165786 Broad FZD5 7855 broad.mit.edu GRCh37 2 208632119 208632119 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000295417.3:c.1345C>T p.Arg449Cys p.R449C ENST00000295417 NM_003468.3 449 Cgc/Tgc 0 Missense_Mutation G 39 FZD5 SNP 2 G A 208340364 208340364 Broad KANSL1L 151050 broad.mit.edu GRCh37 2 210940324 210940324 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000281772.9:c.1707C>G p.His569Gln p.H569Q ENST00000281772 NM_152519.2 569 caC/caG 0 Missense_Mutation G 48 C2orf67 SNP 2 G C 210648569 210648569 Broad WNT6 7475 broad.mit.edu GRCh37 2 219738535 219738535 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000233948.3:c.1066C>T p.Arg356Cys p.R356C ENST00000233948 NM_006522.3 356 Cgt/Tgt 0 Missense_Mutation C 23 WNT6 SNP 2 C T 219446779 219446779 Broad COL6A3 1293 broad.mit.edu GRCh37 2 238249531 238249531 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000295550.4:c.8028C>G p.Asp2676Glu p.D2676E ENST00000295550 NM_004369.3 2676 gaC/gaG 0 Missense_Mutation G 48 COL6A3 SNP 2 G C 237914270 237914270 Broad KCNS1 3787 broad.mit.edu GRCh37 20 43726917 43726917 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000306117.1:c.496G>T p.Ala166Ser p.A166S ENST00000306117 NM_002251.3 166 Gcc/Tcc 0 Missense_Mutation C 27 KCNS1 SNP 20 C A 43160331 43160331 Broad CASS4 57091 broad.mit.edu GRCh37 20 55033485 55033485 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000371336.3:c.2043G>A p.Gly681= p.G681= ENST00000371336 NM_001164114.1 681 ggG/ggA 0 Silent G 43 CASS4 SNP 20 G A 54466892 54466892 Broad HHLA2 11148 broad.mit.edu GRCh37 3 108076721 108076721 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000357759.5:c.716T>A p.Val239Asp p.V239D ENST00000357759 NM_007072.2 239 gTt/gAt 0 Missense_Mutation T 60 HHLA2 SNP 3 T A 109559411 109559411 Broad FTMT 94033 broad.mit.edu GRCh37 5 121187836 121187836 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000321339.1:c.178G>T p.Gly60Trp p.G60W ENST00000321339 NM_177478.1 60 Ggg/Tgg 0 Missense_Mutation G 39 FTMT SNP 5 G T 121215735 121215735 Broad ARAP3 64411 broad.mit.edu GRCh37 5 141051840 141051840 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000239440.4:c.1414C>T p.Gln472Ter p.Q472* ENST00000239440 NM_022481.5 472 Cag/Tag 0 Nonsense_Mutation G 46 ARAP3 SNP 5 G A 141032024 141032024 Broad SYNGAP1 8831 broad.mit.edu GRCh37 6 33411249 33411249 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000418600.2:c.2920G>A p.Asp974Asn p.D974N ENST00000418600 NM_006772.2 974 Gac/Aac 0 Missense_Mutation G 41 SYNGAP1 SNP 6 G A 33519227 33519227 Broad TFAP2D 83741 broad.mit.edu GRCh37 6 50696990 50696990 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000008391.3:c.848C>A p.Ala283Glu p.A283E ENST00000008391 NM_172238.3 283 gCa/gAa 0 Missense_Mutation C 25 TFAP2D SNP 6 C A 50804949 50804949 Broad SHPRH 257218 broad.mit.edu GRCh37 6 146264368 146264368 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000367505.2:c.2149G>A p.Ala717Thr p.A717T ENST00000367505 717 Gca/Aca 0 Missense_Mutation C 28 SHPRH SNP 6 C T 146306061 146306061 Broad HEATR2 54919 broad.mit.edu GRCh37 7 810223 810223 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown x x x ENST00000297440.6:c.1899G>A p.Leu633= p.L633= ENST00000297440 NM_017802.3 633 ctG/ctA 0 Silent G 46 HEATR2 SNP 7 G A 776749 776749 Broad TRRAP 8295 broad.mit.edu GRCh37 7 98573789 98573789 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000359863.4:c.7836C>T p.Ser2612= p.S2612= ENST00000359863 NM_001244580.1 2612 agC/agT 0 Silent C 27 TRRAP SNP 7 C T 98411725 98411725 Broad PTCHD1 139411 broad.mit.edu GRCh37 X 23411777 23411777 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000379361.4:c.2142G>T p.Ser714= p.S714= ENST00000379361 NM_173495.2 714 tcG/tcT 0 Silent G 39 PTCHD1 SNP 23 G T 23321698 23321698 Broad DDX12P 440081 broad.mit.edu GRCh37 12 9590651 9590652 + non_coding_transcript_exon_variant RNA INS - - CTGAGTAAC novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000290818.6:n.591_599dup *197* ENST00000290818 0 In_Frame_Ins - 2 DDX12 INS 12 CTGAGTAAC - 9481919 9481918 Broad PPM1E 22843 broad.mit.edu GRCh37 17 56833468 56833469 + inframe_insertion In_Frame_Ins INS - - CGAACC novel Unknown TCGA-13-1484-01 TCGA-13-1484-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000308249.2:c.126_131dup p.Pro43_Glu44dup p.P43_E44dup ENST00000308249 NM_014906.4 37 ccc/ccCGAACCc 0 In_Frame_Ins - 22 PPM1E INS 17 CGAACC - 54188468 54188467 Broad ABCB1 5243 hgsc.bcm.edu GRCh37 7 87144682 87144682 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265724.3:c.3147C>T p.Asp1049= p.D1049= ENST00000265724 NM_000927.4 1049 gaC/gaT 0 Silent G 48 ABCB1 SNP 7 G A 86982618 86982618 Baylor AGAP3 116988 hgsc.bcm.edu GRCh37 7 150815313 150815313 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397238.2:c.723G>A p.Ala241= p.A241= ENST00000397238 NM_031946.5 241 gcG/gcA 0 Silent G 37 AGAP3 SNP 7 G A 150446246 150446246 Baylor ALK 238 hgsc.bcm.edu GRCh37 2 29416770 29416770 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000389048.3:c.4183A>T p.Thr1395Ser p.T1395S ENST00000389048 NM_004304.4 1395 Acc/Tcc 0 Missense_Mutation T 59 ALK SNP 2 T A 29270274 29270274 Baylor APC 324 hgsc.bcm.edu GRCh37 5 112175446 112175446 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000257430.4:c.4155C>T p.Ser1385= p.S1385= ENST00000257430 NM_000038.5 1385 agC/agT 0 Silent C 25 APC SNP 5 C T 112203345 112203345 Baylor BRCA1 672 hgsc.bcm.edu GRCh37 17 41197784 41197784 + stop_gained Nonsense_Mutation SNP G G A rs41293465 Unknown TCGA-13-0730-01 TCGA-13-0730-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Biotage_PCR_WGA . . SOLID ENST00000357654.3:c.5503C>T p.Arg1835Ter p.R1835* ENST00000357654 NM_007294.3 1835 Cga/Tga 0 Nonsense_Mutation G 39 BRCA1 SNP 17 G A 38451310 38451310 Baylor CHRM5 1133 hgsc.bcm.edu GRCh37 15 34355342 34355342 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000383263.5:c.424C>T p.Arg142Cys p.R142C ENST00000383263 NM_012125.3 142 Cgt/Tgt 0 Missense_Mutation C 27 CHRM5 SNP 15 C T 32142634 32142634 Baylor CHRND 1144 hgsc.bcm.edu GRCh37 2 233393271 233393271 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000258385.3:c.414C>A p.Phe138Leu p.F138L ENST00000258385 NM_000751.2 138 ttC/ttA 0 Missense_Mutation C 31 CHRND SNP 2 C A 233101515 233101515 Baylor CPNE1 8904 hgsc.bcm.edu GRCh37 20 34215234 34215235 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000317677.5:c.1218dup p.Ala407CysfsTer21 p.A407Cfs*21 ENST00000317677 NM_003915.5 406 -/T 0 Frame_Shift_Ins - 25 CPNE1 INS 20 - A 33678649 33678648 Baylor DHX29 54505 hgsc.bcm.edu GRCh37 5 54579410 54579410 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000251636.5:c.1586C>T p.Ser529Leu p.S529L ENST00000251636 NM_019030.2 529 tCg/tTg 0 Missense_Mutation G 37 DHX29 SNP 5 G A 54615167 54615167 Baylor ELOVL1 64834 hgsc.bcm.edu GRCh37 1 43830256 43830256 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372458.3:c.438T>A p.Ser146= p.S146= ENST00000372458 NM_001256402.1 146 tcT/tcA 0 Silent A 7 ELOVL1 SNP 1 A T 43602843 43602843 Baylor METTL21A 151194 hgsc.bcm.edu GRCh37 2 208488953 208488953 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000411432.1:c.147G>A p.Ala49= p.A49= ENST00000411432 NM_001127395.1 49 gcG/gcA 0 Silent C 23 FAM119A SNP 2 C T 208197198 208197198 Baylor BRINP3 339479 hgsc.bcm.edu GRCh37 1 190129882 190129882 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367462.3:c.1100T>C p.Leu367Pro p.L367P ENST00000367462 NM_199051.1 367 cTa/cCa 0 Missense_Mutation A 15 FAM5C SNP 1 A G 188396505 188396505 Baylor GCKR 2646 hgsc.bcm.edu GRCh37 2 27722272 27722272 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264717.2:c.504C>T p.Ala168= p.A168= ENST00000264717 NM_001486.3 168 gcC/gcT 0 Silent C 23 GCKR SNP 2 C T 27575776 27575776 Baylor HAGH 3029 hgsc.bcm.edu GRCh37 16 1872925 1872925 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000397356.3:c.190C>G p.Leu64Val p.L64V ENST00000397356 NM_005326.4 64 Ctg/Gtg 0 Missense_Mutation G 35 HAGH SNP 16 G C 1812926 1812926 Baylor HIBADH 11112 hgsc.bcm.edu GRCh37 7 27689215 27689215 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265395.2:c.129A>G p.Gly43= p.G43= ENST00000265395 NM_152740.3 43 ggA/ggG 0 Silent T 50 HIBADH SNP 7 T C 27655740 27655740 Baylor KLHL5 51088 hgsc.bcm.edu GRCh37 4 39114765 39114765 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000504108.1:c.1952C>T p.Thr651Met p.T651M ENST00000504108 NM_015990.4 651 aCg/aTg 0 Missense_Mutation C 19 KLHL5 SNP 4 C T 38791160 38791160 Baylor MDN1 23195 hgsc.bcm.edu GRCh37 6 90484419 90484419 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369393.3:c.1855A>G p.Ile619Val p.I619V ENST00000369393 619 Att/Gtt 0 Missense_Mutation T 52 MDN1 SNP 6 T C 90541140 90541140 Baylor METTL16 79066 hgsc.bcm.edu GRCh37 17 2376928 2376928 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263092.6:c.359T>A p.Leu120His p.L120H ENST00000263092 NM_024086.3 120 cTt/cAt 0 Missense_Mutation A 3 METT10D SNP 17 A T 2323678 2323678 Baylor KMT2B 9757 hgsc.bcm.edu GRCh37 19 36211742 36211742 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000222270.7:c.1493C>A p.Thr498Asn p.T498N ENST00000222270 NM_014727.1 498 aCc/aAc 0 Missense_Mutation C 18 MLL4 SNP 19 C A 40903582 40903582 Baylor MYO3A 53904 hgsc.bcm.edu GRCh37 10 26385320 26385320 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265944.5:c.1573A>C p.Asn525His p.N525H ENST00000265944 NM_017433.4 525 Aat/Cat 0 Missense_Mutation A 1 MYO3A SNP 10 C C 26425326 26425326 Baylor NALCN 259232 hgsc.bcm.edu GRCh37 13 101797213 101797213 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000251127.6:c.1874A>G p.Glu625Gly p.E625G ENST00000251127 NM_052867.2 625 gAa/gGa 0 Missense_Mutation T 62 NALCN SNP 13 T C 100595214 100595214 Baylor NDRG1 10397 hgsc.bcm.edu GRCh37 8 134269065 134269065 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000414097.2:c.492C>T p.Asn164= p.N164= ENST00000414097 NM_001135242.1 164 aaC/aaT 0 Silent G 40 NDRG1 SNP 8 G A 134338247 134338247 Baylor NIPBL 25836 hgsc.bcm.edu GRCh37 5 36976054 36976054 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000282516.8:c.1045A>G p.Ser349Gly p.S349G ENST00000282516 NM_133433.3 349 Agt/Ggt 0 Missense_Mutation A 15 NIPBL SNP 5 A G 37011811 37011811 Baylor NRXN1 9378 hgsc.bcm.edu GRCh37 2 50850722 50850722 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000404971.1:c.963A>T p.Gly321= p.G321= ENST00000404971 NM_001135659.1 321 ggA/ggT 0 Silent T 50 NRXN1 SNP 2 T A 50704226 50704226 Baylor PAN3 255967 hgsc.bcm.edu GRCh37 13 28851443 28851443 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380958.3:c.2119C>G p.Arg707Gly p.R707G ENST00000380958 NM_175854.7 707 Cga/Gga 0 Missense_Mutation C 27 PAN3 SNP 13 C G 27749443 27749443 Baylor PLXNA4 91584 hgsc.bcm.edu GRCh37 7 131853209 131853209 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359827.3:c.4140G>C p.Met1380Ile p.M1380I ENST00000359827 1380 atG/atC 0 Missense_Mutation C 25 PLXNA4 SNP 7 C G 131503749 131503749 Baylor PRF1 5551 hgsc.bcm.edu GRCh37 10 72358722 72358722 + missense_variant Missense_Mutation SNP T T C rs28933375 Unknown TCGA-13-0730-01 TCGA-13-0730-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000441259.1:c.755A>G p.Asn252Ser p.N252S ENST00000441259 NM_005041.4 252 aAc/aGc 0 Missense_Mutation T 60 PRF1 SNP 10 T C 72028728 72028728 Baylor PRMT1 3276 hgsc.bcm.edu GRCh37 19 50187291 50187291 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000454376.2:c.520C>T p.Leu174Phe p.L174F ENST00000454376 NM_001536.5 174 Ctc/Ttc 0 Missense_Mutation C 28 PRMT1 SNP 19 C T 54879103 54879103 Baylor PSD3 23362 hgsc.bcm.edu GRCh37 8 18729615 18729615 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000327040.8:c.759C>T p.Leu253= p.L253= ENST00000327040 NM_015310.3 253 ctC/ctT 0 Silent G 37 PSD3 SNP 8 G A 18773895 18773895 Baylor PUM1 9698 hgsc.bcm.edu GRCh37 1 31468021 31468021 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000426105.2:c.767A>G p.Lys256Arg p.K256R ENST00000426105 256 aAg/aGg 0 Missense_Mutation T 56 PUM1 SNP 1 T C 31240608 31240608 Baylor RET 5979 hgsc.bcm.edu GRCh37 10 43622100 43622100 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355710.3:c.3117G>A p.Pro1039= p.P1039= ENST00000355710 NM_020975.4 1039 ccG/ccA 0 Silent G 38 RET SNP 10 G A 42942106 42942106 Baylor ARHGAP32 9743 hgsc.bcm.edu GRCh37 11 128842912 128842912 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310343.9:c.3447G>T p.Gly1149= p.G1149= ENST00000310343 NM_001142685.1 1149 ggG/ggT 0 Silent C 30 ARHGAP32 SNP 11 C A 128348122 128348122 Baylor SDSL 113675 hgsc.bcm.edu GRCh37 12 113874568 113874568 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000403593.4:c.685del p.Leu229TrpfsTer30 p.L229Wfs*30 ENST00000403593 228 agC/ag 0 Frame_Shift_Del C 26 SDSL DEL 12 C - 112358951 112358951 Baylor SLC35A5 55032 hgsc.bcm.edu GRCh37 3 112299826 112299826 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000492406.1:c.862A>G p.Ser288Gly p.S288G ENST00000492406 NM_017945.3 288 Agt/Ggt 0 Missense_Mutation A 11 SLC35A5 SNP 3 A G 113782516 113782516 Baylor SLC5A10 125206 hgsc.bcm.edu GRCh37 17 18872373 18872374 + inframe_insertion In_Frame_Ins INS - - TAC novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395647.2:c.463_465dup p.Tyr155dup p.Y155dup ENST00000395647 NM_152351.4 154 -/TAC 0 In_Frame_Ins - 48 SLC5A10 INS 17 - TAC 18813099 18813098 Baylor SLC5A5 6528 hgsc.bcm.edu GRCh37 19 17992859 17992859 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000222248.3:c.1149C>T p.Leu383= p.L383= ENST00000222248 NM_000453.2 383 ctC/ctT 0 Silent C 31 SLC5A5 SNP 19 C T 17853859 17853859 Baylor TFDP1 7027 hgsc.bcm.edu GRCh37 13 114287470 114287470 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000375370.5:c.344G>A p.Gly115Asp p.G115D ENST00000375370 NM_007111.4 115 gGc/gAc 0 Missense_Mutation G 42 TFDP1 SNP 13 G A 113335471 113335471 Baylor TLN2 83660 hgsc.bcm.edu GRCh37 15 63040619 63040619 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000561311.1:c.4095C>T p.Cys1365= p.C1365= ENST00000561311 1365 tgC/tgT 0 Silent C 27 TLN2 SNP 15 C T 60827911 60827911 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578398 7578398 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269305.4:c.532C>A p.His178Asn p.H178N ENST00000269305 NM_001126112.2 178 Cac/Aac 0 Indel G 47 TP53 Indel 17 G T 7519123 7519123 Baylor TRIM36 55521 hgsc.bcm.edu GRCh37 5 114482905 114482905 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000282369.3:c.485C>T p.Pro162Leu p.P162L ENST00000282369 NM_018700.3 162 cCa/cTa 0 Missense_Mutation G 47 TRIM36 SNP 5 G A 114510804 114510804 Baylor TYW3 127253 hgsc.bcm.edu GRCh37 1 75204423 75204423 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370867.3:c.305C>G p.Pro102Arg p.P102R ENST00000370867 NM_138467.2 102 cCa/cGa 0 Missense_Mutation C 21 TYW3 SNP 1 C G 74977011 74977011 Baylor VEZT 55591 hgsc.bcm.edu GRCh37 12 95681516 95681516 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000436874.1:c.1405C>G p.Pro469Ala p.P469A ENST00000436874 NM_017599.3 469 Ccc/Gcc 0 Missense_Mutation C 30 VEZT SNP 12 C G 94205647 94205647 Baylor WDR1 9948 hgsc.bcm.edu GRCh37 4 10117739 10117739 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0730-01 TCGA-13-0730-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000499869.2:c.136G>A p.Asp46Asn p.D46N ENST00000499869 46 Gac/Aac 0 Missense_Mutation C 31 WDR1 SNP 4 C T 9726837 9726837 Baylor SPRR3 6707 broad.mit.edu GRCh37 1 152975530 152975530 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000331860.3:c.34C>G p.Pro12Ala p.P12A ENST00000331860 NM_005416.2 12 Cca/Gca 0 Missense_Mutation C 22 SPRR3 SNP 1 C G 151242154 151242154 Broad PLXNA2 5362 broad.mit.edu GRCh37 1 208216443 208216443 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000367033.3:c.3980C>T p.Pro1327Leu p.P1327L ENST00000367033 NM_025179.3 1327 cCg/cTg 0 Missense_Mutation G 39 PLXNA2 SNP 1 G A 206283066 206283066 Broad USH2A 7399 broad.mit.edu GRCh37 1 216256830 216256830 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000307340.3:c.5266G>A p.Val1756Ile p.V1756I ENST00000307340 NM_206933.2 1756 Gtt/Att 0 Missense_Mutation C 19 USH2A SNP 1 C T 214323453 214323453 Broad EDRF1 26098 broad.mit.edu GRCh37 10 127424275 127424275 + synonymous_variant Silent SNP A A G novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000356792.4:c.1560A>G p.Glu520= p.E520= ENST00000356792 NM_001202438.1 520 gaA/gaG 0 Silent A 3 C10orf137 SNP 10 A G 127414265 127414265 Broad MICALCL 84953 broad.mit.edu GRCh37 11 12315154 12315154 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000256186.2:c.176G>T p.Ser59Ile p.S59I ENST00000256186 NM_032867.2 59 aGt/aTt 0 Missense_Mutation G 36 MICALCL SNP 11 G T 12271730 12271730 Broad MICALCL 84953 broad.mit.edu GRCh37 11 12316364 12316364 + synonymous_variant Silent SNP T T C novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000256186.2:c.1386T>C p.Pro462= p.P462= ENST00000256186 NM_032867.2 462 ccT/ccC 0 Silent T 54 MICALCL SNP 11 T C 12272940 12272940 Broad OR8K3 219473 broad.mit.edu GRCh37 11 56086642 56086642 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000312711.1:c.860T>G p.Leu287Trp p.L287W ENST00000312711 NM_001005202.1 287 tTg/tGg 0 Missense_Mutation T 63 OR8K3 SNP 11 T G 55843218 55843218 Broad ME3 10873 broad.mit.edu GRCh37 11 86152477 86152477 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000543262.1:c.1659C>T p.Leu553= p.L553= ENST00000543262 NM_001161586.1 553 ctC/ctT 0 Silent G 37 ME3 SNP 11 G A 85830125 85830125 Broad ARHGEF12 23365 broad.mit.edu GRCh37 11 120322316 120322316 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000397843.2:c.1939C>T p.Arg647Cys p.R647C ENST00000397843 NM_015313.2 647 Cgc/Tgc 0 Missense_Mutation C 27 ARHGEF12 SNP 11 C T 119827526 119827526 Broad MYF5 4617 broad.mit.edu GRCh37 12 81111036 81111036 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000228644.3:c.194G>T p.Gly65Val p.G65V ENST00000228644 NM_005593.2 65 gGt/gTt 0 Missense_Mutation G 44 MYF5 SNP 12 G T 79635167 79635167 Broad LIG4 3981 broad.mit.edu GRCh37 13 108861828 108861828 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000356922.4:c.1789G>T p.Asp597Tyr p.D597Y ENST00000356922 NM_002312.3 597 Gac/Tac 0 Missense_Mutation C 30 LIG4 SNP 13 C A 107659829 107659829 Broad TCF25 22980 broad.mit.edu GRCh37 16 89977504 89977504 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000263346.8:c.1889A>C p.Glu630Ala p.E630A ENST00000263346 NM_014972.2 630 gAa/gCa 0 Missense_Mutation A 9 TCF25 SNP 16 A C 88505005 88505005 Broad GEMIN4 50628 broad.mit.edu GRCh37 17 650583 650583 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000319004.5:c.700G>T p.Gly234Trp p.G234W ENST00000319004 NM_015721.2 234 Ggg/Tgg 0 Missense_Mutation C 22 GEMIN4 SNP 17 C A 597333 597333 Broad TP53 7157 broad.mit.edu GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 Missense_Mutation T 49 TP53 SNP 17 T C 7518915 7518915 Broad CYP4F12 66002 broad.mit.edu GRCh37 19 15794418 15794418 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000550308.1:c.763C>T p.Arg255Cys p.R255C ENST00000550308 NM_023944.3 255 Cgc/Tgc 0 Missense_Mutation C 27 CYP4F12 SNP 19 C T 15655418 15655418 Broad OR10H1 26539 broad.mit.edu GRCh37 19 15918448 15918448 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000334920.2:c.400G>A p.Val134Met p.V134M ENST00000334920 NM_013940.2 134 Gtg/Atg 0 Missense_Mutation C 19 OR10H1 SNP 19 C T 15779448 15779448 Broad PSG1 5669 broad.mit.edu GRCh37 19 43375953 43375953 + synonymous_variant Silent SNP G G T novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000244296.2:c.675C>A p.Ala225= p.A225= ENST00000244296 NM_006905.2 225 gcC/gcA 0 Silent G 47 PSG1 SNP 19 G T 48067793 48067793 Broad POLD1 5424 broad.mit.edu GRCh37 19 50919065 50919065 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000440232.2:c.2802C>T p.Ala934= p.A934= ENST00000440232 NM_002691.3 934 gcC/gcT 0 Silent C 23 POLD1 SNP 19 C T 55610877 55610877 Broad KLF11 8462 broad.mit.edu GRCh37 2 10186423 10186423 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000305883.1:c.189A>T p.Lys63Asn p.K63N ENST00000305883 NM_003597.4 63 aaA/aaT 0 Missense_Mutation A 3 KLF11 SNP 2 A T 10103874 10103874 Broad POLR1A 25885 broad.mit.edu GRCh37 2 86255075 86255075 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000263857.6:c.4995C>T p.Asn1665= p.N1665= ENST00000263857 1665 aaC/aaT 0 Silent G 36 POLR1A SNP 2 G A 86108586 86108586 Broad POTED 317754 broad.mit.edu GRCh37 21 15000772 15000772 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000299443.5:c.1196A>G p.Glu399Gly p.E399G ENST00000299443 NM_174981.3 399 gAg/gGg 0 Missense_Mutation A 11 POTED SNP 21 A G 13922643 13922643 Broad OTOL1 131149 broad.mit.edu GRCh37 3 161221249 161221249 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000327928.4:c.953T>C p.Val318Ala p.V318A ENST00000327928 NM_001080440.1 318 gTc/gCc 0 Missense_Mutation T 58 OTOL1 SNP 3 T C 162703943 162703943 Broad POLK 51426 broad.mit.edu GRCh37 5 74848304 74848304 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000241436.4:c.143G>T p.Arg48Ile p.R48I ENST00000241436 NM_016218.2 48 aGa/aTa 0 Missense_Mutation G 33 POLK SNP 5 G T 74884060 74884060 Broad REEP5 7905 broad.mit.edu GRCh37 5 112238202 112238202 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000379638.4:c.226G>A p.Glu76Lys p.E76K ENST00000379638 NM_005669.4 76 Gag/Aag 0 Missense_Mutation C 32 REEP5 SNP 5 C T 112266101 112266101 Broad TGFBI 7045 broad.mit.edu GRCh37 5 135389657 135389657 + synonymous_variant Silent SNP A A C novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000442011.2:c.1152A>C p.Ala384= p.A384= ENST00000442011 NM_000358.2 384 gcA/gcC 0 Silent A 7 TGFBI SNP 5 A C 135417556 135417556 Broad DST 667 broad.mit.edu GRCh37 6 56397227 56397227 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000244364.6:c.9154G>C p.Glu3052Gln p.E3052Q ENST00000244364 NM_015548.4 3052 Gag/Cag 0 Missense_Mutation C 32 DST SNP 6 C G 56505186 56505186 Broad EEPD1 80820 broad.mit.edu GRCh37 7 36194635 36194635 + synonymous_variant Silent SNP G G T novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000242108.4:c.702G>T p.Pro234= p.P234= ENST00000242108 NM_030636.2 234 ccG/ccT 0 Silent G 38 EEPD1 SNP 7 G T 36161160 36161160 Broad SPDYE5 442590 broad.mit.edu GRCh37 7 75124501 75124501 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000450699.1:n.203T>C *68* ENST00000450699 0 Missense_Mutation T 51 SPDYE5 SNP 7 T C 74962437 74962437 Broad LURAP1L 286343 broad.mit.edu GRCh37 9 12775880 12775880 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000319264.3:c.166T>G p.Cys56Gly p.C56G ENST00000319264 NM_203403.1 56 Tgc/Ggc 0 Missense_Mutation T 55 C9orf150 SNP 9 T G 12765880 12765880 Broad ZCCHC6 79670 broad.mit.edu GRCh37 9 88924132 88924132 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000375963.3:c.3655G>A p.Glu1219Lys p.E1219K ENST00000375963 NM_001185059.1 1219 Gaa/Aaa 0 Missense_Mutation C 29 ZCCHC6 SNP 9 C T 88113952 88113952 Broad CTSL 1514 broad.mit.edu GRCh37 9 90343677 90343677 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown x x x ENST00000343150.5:c.574G>A p.Asp192Asn p.D192N ENST00000343150 192 Gat/Aat 0 Missense_Mutation G 41 CTSL1 SNP 9 G A 89533497 89533497 Broad DSE 29940 broad.mit.edu GRCh37 6 116756869 116756873 + frameshift_variant Frame_Shift_Del DEL CTTTC CTTTC - novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000331677.3:c.1246_1250del p.Ser416GlnfsTer12 p.S416Qfs*12 ENST00000331677 413 tCTTTC/t 0 Frame_Shift_Del CTTTC 32 DSE DEL 6 - CTTTC 116863566 116863562 Broad TBP 6908 broad.mit.edu GRCh37 6 170871013 170871014 + inframe_insertion In_Frame_Ins INS - - CAG novel Unknown TCGA-59-2350-01 TCGA-59-2350-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000392092.2:c.213_215dupGCA p.Gln95dup p.Q95dup ENST00000392092 NM_003194.4 63 -/CAG 0 In_Frame_Ins - 2 TBP INS 6 CAG - 170712939 170712938 Broad ACTL6A 86 hgsc.bcm.edu GRCh37 3 179287948 179287948 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000429709.2:c.196C>T p.Pro66Ser p.P66S ENST00000429709 NM_004301.3 66 Ccc/Tcc 0 Missense_Mutation C 30 ACTL6A SNP 3 C T 180770642 180770642 Baylor ARSF 416 hgsc.bcm.edu GRCh37 X 3019221 3019221 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381127.1:c.1061G>A p.Arg354Gln p.R354Q ENST00000381127 NM_001201539.1 354 cGa/cAa 0 Missense_Mutation G 37 ARSF SNP 23 G A 3029221 3029221 Baylor B4GALNT3 283358 hgsc.bcm.edu GRCh37 12 644350 644350 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000266383.5:c.188A>G p.Glu63Gly p.E63G ENST00000266383 NM_173593.3 63 gAa/gGa 0 Missense_Mutation A 9 B4GALNT3 SNP 12 A G 514611 514611 Baylor MIS18BP1 55320 hgsc.bcm.edu GRCh37 14 45716019 45716019 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310806.4:c.471delA p.Lys157AsnfsTer24 p.K157Nfs*24 ENST00000310806 NM_018353.4 157 aaA/aa 0 Frame_Shift_Del T 52 C14orf106 DEL 14 T - 44785769 44785769 Baylor CDH24 64403 hgsc.bcm.edu GRCh37 14 23519039 23519039 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397359.3:c.1591C>A p.Pro531Thr p.P531T ENST00000397359 NM_022478.3 531 Cct/Act 0 Missense_Mutation G 41 CDH24 SNP 14 G T 22588879 22588879 Baylor CDKN2A 1029 hgsc.bcm.edu GRCh37 9 21970980 21970980 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000304494.5:c.378C>A p.Val126= p.V126= ENST00000304494 NM_000077.4 126 gtC/gtA 0 Silent G 37 CDKN2A SNP 9 T T 21960980 21960980 Baylor DOCK6 57572 hgsc.bcm.edu GRCh37 19 11353933 11353933 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000294618.7:c.1386+1G>T p.X462_splice ENST00000294618 NM_020812.3 0 Splice_Site_SNP C 18 DOCK6 SNP 19 C A 11214933 11214933 Baylor AGO2 27161 hgsc.bcm.edu GRCh37 8 141549468 141549468 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000220592.5:c.2120T>G p.Val707Gly p.V707G ENST00000220592 NM_012154.3 707 gTg/gGg 0 Missense_Mutation A 6 EIF2C2 SNP 8 A C 141618650 141618650 Baylor GAPVD1 26130 hgsc.bcm.edu GRCh37 9 128103502 128103502 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000394105.2:c.3005G>T p.Arg1002Ile p.R1002I ENST00000394105 NM_015635.2 1002 aGa/aTa 0 Missense_Mutation G 33 GAPVD1 SNP 9 G T 127143323 127143323 Baylor GLB1 2720 hgsc.bcm.edu GRCh37 3 33099607 33099607 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000307363.5:c.707T>A p.Leu236His p.L236H ENST00000307363 NM_000404.2 236 cTc/cAc 0 Missense_Mutation A 11 GLB1 SNP 3 A T 33074611 33074611 Baylor ARHGAP35 2909 hgsc.bcm.edu GRCh37 19 47424860 47424860 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000404338.3:c.2928G>A p.Pro976= p.P976= ENST00000404338 NM_004491.4 976 ccG/ccA 0 Silent G 38 GRLF1 SNP 19 G A 52116700 52116700 Baylor HEG1 57493 hgsc.bcm.edu GRCh37 3 124738301 124738301 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311127.4:c.1393A>G p.Thr465Ala p.T465A ENST00000311127 NM_020733.1 465 Aca/Gca 0 Missense_Mutation T 60 HEG1 SNP 3 T C 126220991 126220991 Baylor HIP1R 9026 hgsc.bcm.edu GRCh37 12 123340855 123340855 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000253083.4:c.1365T>C p.Ser455= p.S455= ENST00000253083 NM_003959.1 455 agT/agC 0 Silent T 59 HIP1R SNP 12 T C 121906808 121906808 Baylor IL11RA 3590 hgsc.bcm.edu GRCh37 9 34655232 34655232 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000555003.1:c.18A>T p.Ser6= p.S6= ENST00000555003 6 tcA/tcT 0 Silent A 7 IL11RA SNP 9 A T 34645232 34645232 Baylor KIF2B 84643 hgsc.bcm.edu GRCh37 17 51902304 51902304 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000268919.4:c.1910G>T p.Cys637Phe p.C637F ENST00000268919 NM_032559.4 637 tGc/tTc 0 Missense_Mutation G 46 KIF2B SNP 17 G T 49257303 49257303 Baylor LRSAM1 90678 hgsc.bcm.edu GRCh37 9 130230081 130230081 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000323301.4:c.591T>G p.Thr197= p.T197= ENST00000323301 NM_138361.5 197 acT/acG 0 Silent T 55 LRSAM1 SNP 9 T G 129269902 129269902 Baylor NFRKB 4798 hgsc.bcm.edu GRCh37 11 129746634 129746634 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000524794.1:c.1804G>A p.Val602Ile p.V602I ENST00000524794 602 Gtc/Atc 0 Missense_Mutation C 19 NFRKB SNP 11 C T 129251844 129251844 Baylor NTM 50863 hgsc.bcm.edu GRCh37 11 132016268 132016268 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000425719.2:c.260G>A p.Arg87His p.R87H ENST00000425719 87 cGc/cAc 0 Missense_Mutation G 38 NTM SNP 11 G A 131521478 131521478 Baylor PDE6B 5158 hgsc.bcm.edu GRCh37 4 650768 650770 + inframe_deletion In_Frame_Del DEL AAA AAA - novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 AAA AAA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000496514.1:c.1213_1215del p.Lys405del p.K405del ENST00000496514 405 AAA/- 0 In_Frame_Del AAA 9 PDE6B DEL 4 AAA - 640770 640768 Baylor RAD51AP2 729475 hgsc.bcm.edu GRCh37 2 17692185 17692185 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399080.2:c.3366G>A p.Pro1122= p.P1122= ENST00000399080 NM_001099218.2 1122 ccG/ccA 0 Silent C 27 RAD51AP2 SNP 2 C T 17555666 17555666 Baylor RTN2 6253 hgsc.bcm.edu GRCh37 19 45992156 45992156 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000245923.4:c.1330A>G p.Thr444Ala p.T444A ENST00000245923 NM_005619.4 444 Acg/Gcg 0 Missense_Mutation T 59 RTN2 SNP 19 T C 50683996 50683996 Baylor SHANK2 22941 hgsc.bcm.edu GRCh37 11 70331795 70331795 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000338508.4:c.4606G>T p.Asp1536Tyr p.D1536Y ENST00000338508 1536 Gat/Tat 0 Missense_Mutation C 32 SHANK2 SNP 11 C A 70009443 70009443 Baylor SIAH3 283514 hgsc.bcm.edu GRCh37 13 46357913 46357913 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000400405.2:c.415G>A p.Ala139Thr p.A139T ENST00000400405 NM_198849.2 139 Gcc/Acc 0 Missense_Mutation C 28 SIAH3 SNP 13 C T 45255914 45255914 Baylor SLC19A3 80704 hgsc.bcm.edu GRCh37 2 228563705 228563705 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000258403.3:c.726G>T p.Gly242= p.G242= ENST00000258403 NM_025243.3 242 ggG/ggT 0 Silent C 30 SLC19A3 SNP 2 C A 228271949 228271949 Baylor SLU7 10569 hgsc.bcm.edu GRCh37 5 159841380 159841380 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000297151.4:c.270A>G p.Glu90= p.E90= ENST00000297151 NM_006425.4 90 gaA/gaG 0 Silent T 64 SLU7 SNP 5 T C 159773958 159773958 Baylor SPRR1B 6699 hgsc.bcm.edu GRCh37 1 153004926 153004926 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000307098.4:c.105C>T p.Pro35= p.P35= ENST00000307098 NM_003125.2 35 ccC/ccT 0 Silent C 21 SPRR1B SNP 1 C T 151271550 151271550 Baylor STK11IP 114790 hgsc.bcm.edu GRCh37 2 220462835 220462835 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295641.10:c.27C>A p.Pro9= p.P9= ENST00000295641 NM_052902.2 9 ccC/ccA 0 Silent C 23 STK11IP SNP 2 C A 220171079 220171079 Baylor TAF2 6873 hgsc.bcm.edu GRCh37 8 120814095 120814095 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378164.2:c.731C>T p.Ala244Val p.A244V ENST00000378164 NM_003184.3 244 gCg/gTg 0 Missense_Mutation G 38 TAF2 SNP 8 G A 120883276 120883276 Baylor TP53BP1 7158 hgsc.bcm.edu GRCh37 15 43720335 43720335 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000382044.4:c.3707C>T p.Pro1236Leu p.P1236L ENST00000382044 NM_001141980.1 1236 cCa/cTa 0 Missense_Mutation G 47 TP53BP1 SNP 15 G A 41507627 41507627 Baylor UGT2A2 574537 hgsc.bcm.edu GRCh37 4 70505199 70505199 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000457664.2:c.160C>T p.Gln54Ter p.Q54* ENST00000457664 NM_001105677.2 54 Caa/Taa 0 Nonsense_Mutation G 45 UGT2A2 SNP 4 G A 70539788 70539788 Baylor USP35 57558 hgsc.bcm.edu GRCh37 11 77920863 77920864 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000529308.1:c.1963dup p.Thr655AsnfsTer74 p.T655Nfs*74 ENST00000529308 NM_020798.2 654 -/A 0 Frame_Shift_Ins - 21 USP35 INS 11 - A 77598512 77598511 Baylor ZBTB21 49854 hgsc.bcm.edu GRCh37 21 43411551 43411551 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310826.5:c.2654A>C p.Glu885Ala p.E885A ENST00000310826 NM_001098402.1 885 gAg/gCg 0 Missense_Mutation T 54 ZNF295 SNP 21 T G 42284620 42284620 Baylor ZNF41 7592 hgsc.bcm.edu GRCh37 X 47307997 47307997 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377065.4:c.1172G>T p.Gly391Val p.G391V ENST00000377065 NM_153380.2 391 gGc/gTc 0 Missense_Mutation C 26 ZNF41 SNP 23 C A 47192941 47192941 Baylor ZNF445 353274 hgsc.bcm.edu GRCh37 3 44492426 44492426 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000425708.2:c.627T>C p.Leu209= p.L209= ENST00000425708 209 ctT/ctC 0 Silent A 1 ZNF445 SNP 3 A G 44467430 44467430 Baylor ZNF99 7652 hgsc.bcm.edu GRCh37 19 22942281 22942281 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0727-01 TCGA-13-0727-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000596209.1:c.430A>G p.Ile144Val p.I144V ENST00000596209 NM_001080409.2 144 Ata/Gta 0 Missense_Mutation T 52 ZNF99 SNP 19 T C 22734121 22734121 Baylor CA6 765 broad.mit.edu GRCh37 1 9019055 9019055 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000377436.3:c.495C>T p.Phe165= p.F165= ENST00000377436 NM_001270500.1 165 ttC/ttT 0 Silent C 31 CA6 SNP 1 C T 8941642 8941642 Broad SERINC2 347735 broad.mit.edu GRCh37 1 31902284 31902284 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000596131.1:c.331G>A p.Val111Ile p.V111I ENST00000596131 111 Gtt/Att 0 Silent C 19 SERINC2 SNP 1 C T 31674871 31674871 Broad DLGAP3 58512 broad.mit.edu GRCh37 1 35370973 35370973 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000373347.1:c.12C>T p.Tyr4= p.Y4= ENST00000373347 4 taC/taT 0 Silent G 44 DLGAP3 SNP 1 G A 35143560 35143560 Broad STK40 83931 broad.mit.edu GRCh37 1 36814314 36814314 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000373129.3:c.726C>T p.Pro242= p.P242= ENST00000373129 NM_032017.1 242 ccC/ccT 0 Silent G 39 STK40 SNP 1 G A 36586901 36586901 Broad ASPM 259266 broad.mit.edu GRCh37 1 197071077 197071077 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000367409.4:c.7304T>C p.Ile2435Thr p.I2435T ENST00000367409 NM_018136.4 2435 aTt/aCt 0 Missense_Mutation A 4 ASPM SNP 1 A G 195337700 195337700 Broad ANKRD26 22852 broad.mit.edu GRCh37 10 27326144 27326144 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000376087.4:c.2668G>A p.Glu890Lys p.E890K ENST00000376087 NM_014915.2 890 Gaa/Aaa 0 Missense_Mutation C 29 ANKRD26 SNP 10 C T 27366150 27366150 Broad CHST15 51363 broad.mit.edu GRCh37 10 125769829 125769829 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000346248.5:c.1522T>C p.Leu508= p.L508= ENST00000346248 NM_015892.4 508 Ttg/Ctg 0 Silent A 1 CHST15 SNP 10 A G 125759819 125759819 Broad KCNJ11 3767 broad.mit.edu GRCh37 11 17409598 17409598 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000339994.4:c.41T>G p.Leu14Arg p.L14R ENST00000339994 NM_000525.3 14 cTg/cGg 0 Missense_Mutation A 7 KCNJ11 SNP 11 A C 17366174 17366174 Broad OR8J1 219477 broad.mit.edu GRCh37 11 56128338 56128338 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000303039.3:c.616A>T p.Asn206Tyr p.N206Y ENST00000303039 NM_001005205.2 206 Aat/Tat 0 Missense_Mutation A 1 OR8J1 SNP 11 A T 55884914 55884914 Broad OR5A1 219982 broad.mit.edu GRCh37 11 59211350 59211350 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000302030.2:c.709C>T p.Arg237Ter p.R237* ENST00000302030 NM_001004728.1 237 Cga/Tga 0 Nonsense_Mutation C 23 OR5A1 SNP 11 C T 58967926 58967926 Broad ATP11A 23250 broad.mit.edu GRCh37 13 113485841 113485841 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000487903.1:c.1374G>A p.Ser458= p.S458= ENST00000487903 458 tcG/tcA 0 Silent G 40 ATP11A SNP 13 G A 112533842 112533842 Broad AP1G2 8906 broad.mit.edu GRCh37 14 24035342 24035342 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000308724.5:c.499C>T p.Arg167Trp p.R167W ENST00000308724 NM_003917.2 167 Cgg/Tgg 0 Missense_Mutation G 39 AP1G2 SNP 14 G A 23105182 23105182 Broad ARID4A 5926 broad.mit.edu GRCh37 14 58831412 58831412 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000355431.3:c.2605A>G p.Ile869Val p.I869V ENST00000355431 NM_002892.3 869 Ata/Gta 0 Missense_Mutation A 4 ARID4A SNP 14 A G 57901165 57901165 Broad TP53 7157 broad.mit.edu GRCh37 17 7578265 7578265 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.584T>C p.Ile195Thr p.I195T ENST00000269305 NM_001126112.2 195 aTc/aCc 0 Missense_Mutation A 12 TP53 SNP 17 A G 7518990 7518990 Broad JAK3 3718 broad.mit.edu GRCh37 19 17950423 17950423 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000458235.1:c.1304C>T p.Thr435Ile p.T435I ENST00000458235 NM_000215.3 435 aCa/aTa 0 Missense_Mutation G 48 JAK3 SNP 19 G A 17811423 17811423 Broad ZNF181 339318 broad.mit.edu GRCh37 19 35232077 35232077 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000492450.1:c.791C>G p.Pro264Arg p.P264R ENST00000492450 264 cCc/cGc 0 Missense_Mutation C 22 ZNF181 SNP 19 C G 39923917 39923917 Broad GEN1 348654 broad.mit.edu GRCh37 2 17963142 17963142 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000381254.2:c.2663G>C p.Gly888Ala p.G888A ENST00000381254 NM_001130009.1 888 gGt/gCt 0 Missense_Mutation G 44 GEN1 SNP 2 G C 17826623 17826623 Broad CNOT11 55571 broad.mit.edu GRCh37 2 101874319 101874319 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000289382.3:c.581G>C p.Arg194Pro p.R194P ENST00000289382 NM_017546.4 194 cGg/cCg 0 Missense_Mutation G 39 C2orf29 SNP 2 G C 101240751 101240751 Broad KCNJ4 3761 broad.mit.edu GRCh37 22 38823544 38823544 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000303592.3:c.594C>T p.Gly198= p.G198= ENST00000303592 NM_152868.2 198 ggC/ggT 0 Silent G 46 KCNJ4 SNP 22 G A 37153490 37153490 Broad SCN10A 6336 broad.mit.edu GRCh37 3 38770224 38770224 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000449082.2:c.2449C>T p.Arg817Ter p.R817* ENST00000449082 NM_006514.2 817 Cga/Tga 0 Nonsense_Mutation G 39 SCN10A SNP 3 G A 38745228 38745228 Broad GABRA4 2557 broad.mit.edu GRCh37 4 46979124 46979124 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000264318.3:c.531G>C p.Val177= p.V177= ENST00000264318 NM_000809.3 177 gtG/gtC 0 Silent C 21 GABRA4 SNP 4 C G 46673881 46673881 Broad BBS12 166379 broad.mit.edu GRCh37 4 123664599 123664599 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000542236.1:c.1552A>G p.Arg518Gly p.R518G ENST00000542236 NM_001178007.1 518 Agg/Ggg 0 Missense_Mutation A 15 BBS12 SNP 4 A G 123884049 123884049 Broad TKTL2 84076 broad.mit.edu GRCh37 4 164394719 164394719 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000280605.3:c.168G>A p.Thr56= p.T56= ENST00000280605 NM_032136.4 56 acG/acA 0 Silent C 31 TKTL2 SNP 4 C T 164614169 164614169 Broad COL12A1 1303 broad.mit.edu GRCh37 6 75902055 75902055 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000322507.8:c.207A>G p.Glu69= p.E69= ENST00000322507 NM_004370.5 69 gaA/gaG 0 Silent T 52 COL12A1 SNP 6 T C 75958775 75958775 Broad TRAF3IP2 10758 broad.mit.edu GRCh37 6 111901531 111901531 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000368761.5:c.891G>A p.Gln297= p.Q297= ENST00000368761 NM_001164281.2 297 caG/caA 0 Silent C 28 TRAF3IP2 SNP 6 C T 112008224 112008224 Broad HOXA7 3204 broad.mit.edu GRCh37 7 27194684 27194684 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000242159.3:c.537G>T p.Gln179His p.Q179H ENST00000242159 NM_006896.3 179 caG/caT 0 Missense_Mutation C 32 HOXA7 SNP 7 C A 27161209 27161209 Broad FAM214B 80256 broad.mit.edu GRCh37 9 35107610 35107610 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000378561.1:c.662A>G p.Asn221Ser p.N221S ENST00000378561 221 aAt/aGt 0 Missense_Mutation T 52 KIAA1539 SNP 9 T C 35097610 35097610 Broad NR4A3 8013 broad.mit.edu GRCh37 9 102595008 102595008 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000330847.1:c.1022C>A p.Ala341Glu p.A341E ENST00000330847 341 gCa/gAa 0 Missense_Mutation C 25 NR4A3 SNP 9 C A 101634829 101634829 Broad DBH 1621 broad.mit.edu GRCh37 9 136512973 136512973 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000393056.2:c.1030A>C p.Asn344His p.N344H ENST00000393056 NM_000787.3 344 Aac/Cac 0 Missense_Mutation A 1 DBH SNP 9 A C 135502794 135502794 Broad CASK 8573 broad.mit.edu GRCh37 X 41390350 41390350 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000378166.4:c.2415C>T p.Ser805= p.S805= ENST00000378166 NM_003688.3 805 agC/agT 0 Silent G 42 CASK SNP 23 G A 41275294 41275294 Broad ABCB7 22 broad.mit.edu GRCh37 X 74375965 74375965 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000253577.3:c.143C>T p.Ala48Val p.A48V ENST00000253577 NM_001271696.1 48 gCc/gTc 0 Missense_Mutation G 42 ABCB7 SNP 23 G A 74292690 74292690 Broad F9 2158 broad.mit.edu GRCh37 X 138623284 138623284 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown x x x ENST00000218099.2:c.327G>C p.Lys109Asn p.K109N ENST00000218099 NM_000133.3 109 aaG/aaC 0 Missense_Mutation G 35 F9 SNP 23 G C 138450950 138450950 Broad NBPF10 100132406 broad.mit.edu GRCh37 1 145327546 145327550 + frameshift_variant Frame_Shift_Del DEL TGAAT TGAAT - novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000342960.5:c.4103_4107del p.Leu1368GlnfsTer11 p.L1368Qfs*11 ENST00000342960 NM_001039703.5 1368 cTGAAT/c 0 Frame_Shift_Del TGAAT 55 NBPF10 DEL 1 - TGAAT 144038907 144038903 Broad IWS1 55677 broad.mit.edu GRCh37 2 128262465 128262467 + inframe_deletion In_Frame_Del DEL CTT CTT - novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000295321.4:c.1012_1014del p.Lys338del p.K338del ENST00000295321 NM_017969.2 338 AAG/- 0 In_Frame_Del CTT 24 IWS1 DEL 2 - CTT 127978937 127978935 Broad COG5 10466 broad.mit.edu GRCh37 7 107204370 107204370 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-25-2396-01 TCGA-25-2396-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000297135.3:c.65del p.Ala22ValfsTer20 p.A22Vfs*20 ENST00000297135 NM_006348.3 22 gCt/gt 0 Frame_Shift_Del G 34 COG5 DEL 7 - G 106991606 106991606 Broad KRTAP5-3 387266 genome.wustl.edu GRCh37 11 1629081 1629081 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399685.1:c.535G>T p.Gly179Cys p.G179C ENST00000399685 NM_001012708.2 179 Ggc/Tgc 0 Missense_Mutation C 24 KRTAP5-3 SNP 11 C A 1585657 1585657 WashU CSMD1 64478 genome.wustl.edu GRCh37 8 2964060 2964060 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000537824.1:c.6939A>T p.Pro2313= p.P2313= ENST00000537824 NM_033225.5 2313 ccA/ccT 0 Missense_Mutation T 63 CSMD1 SNP 8 T A 2951467 2951467 WashU GPR78 27201 genome.wustl.edu GRCh37 4 8582892 8582892 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000382487.4:c.183C>T p.Pro61= p.P61= ENST00000382487 NM_080819.4 61 ccC/ccT 0 Silent C 24 GPR78 SNP 4 T T 8633792 8633792 WashU TAS2R50 259296 genome.wustl.edu GRCh37 12 11139452 11139452 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000506868.1:c.8C>G p.Thr3Ser p.T3S ENST00000506868 NM_176890.2 3 aCt/aGt 0 Missense_Mutation G 36 TAS2R50 SNP 12 G C 11030719 11030719 WashU SGCZ 137868 genome.wustl.edu GRCh37 8 13948087 13948087 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382080.1:c.804T>A p.Ser268= p.S268= ENST00000382080 NM_139167.2 268 tcT/tcA 0 Silent A 3 SGCZ SNP 8 A T 13992458 13992458 WashU SLCO1A2 6579 genome.wustl.edu GRCh37 12 21472312 21472312 + intron_variant Intron SNP C C T novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307378.6:c.61-455G>A *21* ENST00000307378 NM_134431.3 0 Silent C 23 SLCO1A2 SNP 12 C T 21363579 21363579 WashU GPLD1 2822 genome.wustl.edu GRCh37 6 24462991 24462991 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000230036.1:c.854T>C p.Ile285Thr p.I285T ENST00000230036 NM_001503.3 285 aTt/aCt 0 Missense_Mutation A 4 GPLD1 SNP 6 A G 24570970 24570970 WashU SVIL 6840 genome.wustl.edu GRCh37 10 29773706 29773706 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375398.2:c.4834A>T p.Thr1612Ser p.T1612S ENST00000375398 1612 Aca/Tca 0 Missense_Mutation T 59 SVIL SNP 10 T A 29813712 29813712 WashU C5orf22 55322 genome.wustl.edu GRCh37 5 31538630 31538630 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000325366.9:c.641C>G p.Thr214Ser p.T214S ENST00000325366 NM_018356.2 214 aCt/aGt 0 Missense_Mutation C 20 C5orf22 SNP 5 C G 31574387 31574387 WashU DCLK1 9201 genome.wustl.edu GRCh37 13 36424904 36424904 + intron_variant Intron SNP G G A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000255448.4:c.1035+3732C>T *345* ENST00000255448 NM_004734.4 0 Missense_Mutation G 39 DCLK1 SNP 13 G A 35322904 35322904 WashU KIAA1755 85449 genome.wustl.edu GRCh37 20 36855561 36855561 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000279024.4:c.2047G>A p.Val683Ile p.V683I ENST00000279024 NM_001029864.1 683 Gtc/Atc 0 Missense_Mutation C 19 KIAA1755 SNP 20 C T 36288975 36288975 WashU PIK3C3 5289 genome.wustl.edu GRCh37 18 39600610 39600610 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262039.4:c.1425C>A p.Leu475= p.L475= ENST00000262039 NM_002647.2 475 ctC/ctA 0 Silent C 32 PIK3C3 SNP 18 C A 37854608 37854608 WashU ZBTB32 27033 genome.wustl.edu GRCh37 19 36207502 36207502 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392197.2:c.1312C>A p.Pro438Thr p.P438T ENST00000392197 438 Ccc/Acc 0 Missense_Mutation C 30 ZBTB32 SNP 19 C A 40899342 40899342 WashU LAMB2 3913 genome.wustl.edu GRCh37 3 49159423 49159423 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000418109.1:c.4877G>C p.Arg1626Pro p.R1626P ENST00000418109 NM_002292.3 1626 cGg/cCg 0 Missense_Mutation C 23 LAMB2 SNP 3 C G 49134427 49134427 WashU SMC1A 8243 genome.wustl.edu GRCh37 X 53423407 53423407 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000322213.4:c.2693T>G p.Leu898Arg p.L898R ENST00000322213 NM_001281463.1 898 cTc/cGc 0 Missense_Mutation A 11 SMC1A SNP 23 A C 53440132 53440132 WashU OS9 10956 genome.wustl.edu GRCh37 12 58113916 58113916 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000315970.7:c.1635C>A p.Val545= p.V545= ENST00000315970 NM_006812.3 545 gtC/gtA 0 Silent C 29 OS9 SNP 12 C A 56400183 56400183 WashU SIGLEC12 89858 genome.wustl.edu GRCh37 19 52001388 52001388 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000291707.3:c.1289T>C p.Val430Ala p.V430A ENST00000291707 NM_053003.2 430 gTg/gCg 0 Missense_Mutation A 6 SIGLEC12 SNP 19 A G 56693200 56693200 WashU ZNF615 284370 genome.wustl.edu GRCh37 19 52497554 52497554 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000594083.1:c.808C>T p.His270Tyr p.H270Y ENST00000594083 270 Cat/Tat 0 Missense_Mutation G 48 ZNF615 SNP 19 G A 57189366 57189366 WashU LILRB4 11006 genome.wustl.edu GRCh37 19 55179203 55179203 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000391736.1:c.1159A>T p.Lys387Ter p.K387* ENST00000391736 NM_001278430.2 387 Aag/Tag 0 Nonsense_Mutation A 1 LILRB4 SNP 19 A T 59871015 59871015 WashU TRIM23 373 genome.wustl.edu GRCh37 5 64909990 64909990 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000231524.9:c.301C>T p.Arg101Ter p.R101* ENST00000231524 NM_001656.3 101 Cga/Tga 0 Nonsense_Mutation G 40 TRIM23 SNP 5 G A 64945746 64945746 WashU MIER1 57708 genome.wustl.edu GRCh37 1 67411870 67411870 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000401041.1:c.231A>G p.Pro77= p.P77= ENST00000401041 NM_001077700.2 77 ccA/ccG 0 Missense_Mutation A 8 MIER1 SNP 1 A G 67184458 67184458 WashU GLCE 26035 genome.wustl.edu GRCh37 15 69560791 69560791 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261858.2:c.1062G>T p.Leu354= p.L354= ENST00000261858 NM_015554.1 354 ctG/ctT 0 Silent G 47 GLCE SNP 15 G T 67347845 67347845 WashU CPA6 57094 genome.wustl.edu GRCh37 8 68340286 68340286 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297770.4:c.1122G>A p.Thr374= p.T374= ENST00000297770 NM_020361.4 374 acG/acA 0 Silent C 19 CPA6 SNP 8 C T 68502840 68502840 WashU THSD4 79875 genome.wustl.edu GRCh37 15 72050325 72050325 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355327.3:c.2500T>G p.Cys834Gly p.C834G ENST00000355327 834 Tgt/Ggt 0 Missense_Mutation T 55 THSD4 SNP 15 T G 69837379 69837379 WashU DUPD1 338599 genome.wustl.edu GRCh37 10 76818085 76818085 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338487.5:c.188A>G p.Tyr63Cys p.Y63C ENST00000338487 NM_001003892.1 63 tAc/tGc 0 Missense_Mutation T 57 DUPD1 SNP 10 T C 76488091 76488091 WashU SPRY2 10253 genome.wustl.edu GRCh37 13 80911657 80911657 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377102.1:c.184G>A p.Val62Ile p.V62I ENST00000377102 62 Gtc/Atc 0 Missense_Mutation C 19 SPRY2 SNP 13 C T 79809658 79809658 WashU ABCB4 5244 genome.wustl.edu GRCh37 7 87035712 87035712 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265723.4:c.3399T>G p.Ile1133Met p.I1133M ENST00000265723 NM_000443.3 1133 atT/atG 0 Missense_Mutation A 5 ABCB4 SNP 7 A C 86873648 86873648 WashU PRDM7 11105 genome.wustl.edu GRCh37 16 90128464 90128464 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000449207.2:c.747G>A p.Gly249= p.G249= ENST00000449207 NM_001098173.1 249 ggG/ggA 0 Silent C 26 PRDM7 SNP 16 C T 88655965 88655965 WashU MOK 5891 genome.wustl.edu GRCh37 14 102698968 102698968 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361847.2:c.770A>C p.Gln257Pro p.Q257P ENST00000361847 NM_014226.2 257 cAa/cCa 0 Missense_Mutation T 63 RAGE SNP 14 T G 101768721 101768721 WashU BAG5 9529 genome.wustl.edu GRCh37 14 104026926 104026926 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337322.4:c.699G>T p.Glu233Asp p.E233D ENST00000337322 NM_001015049.2 233 gaG/gaT 0 Missense_Mutation C 24 BAG5 SNP 14 C A 103096679 103096679 WashU OR13D1 286365 genome.wustl.edu GRCh37 9 107457623 107457623 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318763.5:c.921G>A p.Gly307= p.G307= ENST00000318763 NM_001004484.1 307 ggG/ggA 0 Silent G 42 OR13D1 SNP 9 G A 106497444 106497444 WashU STRIP1 85369 genome.wustl.edu GRCh37 1 110587643 110587643 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369795.3:c.1359G>A p.Thr453= p.T453= ENST00000369795 NM_033088.3 453 acG/acA 0 Silent G 37 FAM40A SNP 1 G A 110389166 110389166 WashU MLXIP 22877 genome.wustl.edu GRCh37 12 122614147 122614147 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319080.7:c.709A>G p.Lys237Glu p.K237E ENST00000319080 NM_014938.4_dupl16 237 Aag/Gag 0 Missense_Mutation A 5 MLXIP SNP 12 A G 121180101 121180101 WashU CLMP 79827 genome.wustl.edu GRCh37 11 122953914 122953914 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000448775.2:c.558C>T p.Asp186= p.D186= ENST00000448775 NM_024769.2 186 gaC/gaT 0 Silent G 36 ASAM SNP 11 G A 122459124 122459124 WashU ASAP1 50807 genome.wustl.edu GRCh37 8 131124344 131124344 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357668.1:c.2397G>C p.Gly799= p.G799= ENST00000357668 799 ggG/ggC 0 Silent C 30 ASAP1 SNP 8 C G 131193526 131193526 WashU ZNF185 7739 genome.wustl.edu GRCh37 X 152138985 152138985 + splice_acceptor_variant Splice_Site SNP A A G novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000535861.1:c.2068-2A>G p.X690_splice ENST00000535861 NM_001178106.1 0 Splice_Site_SNP A 7 ZNF185 SNP 23 A G 151889641 151889641 WashU NUP210L 91181 genome.wustl.edu GRCh37 1 154018594 154018594 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000368559.3:c.3647G>T p.Trp1216Leu p.W1216L ENST00000368559 NM_207308.2 1216 tGg/tTg 0 Missense_Mutation C 21 NUP210L SNP 1 C A 152285218 152285218 WashU UAP1 6675 genome.wustl.edu GRCh37 1 162569083 162569083 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000367926.4:c.1448A>G p.Asp483Gly p.D483G ENST00000367926 NM_003115.4 483 gAt/gGt 0 Missense_Mutation A 12 UAP1 SNP 1 A G 160835707 160835707 WashU SERPINC1 462 genome.wustl.edu GRCh37 1 173873145 173873145 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367698.3:c.1277C>T p.Ser426Leu p.S426L ENST00000367698 NM_000488.3 426 tCg/tTg 0 Missense_Mutation G 37 SERPINC1 SNP 1 G A 172139768 172139768 WashU PLD1 5337 genome.wustl.edu GRCh37 3 171338240 171338240 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000351298.4:c.2664A>G p.Leu888= p.L888= ENST00000351298 NM_002662.4 888 ctA/ctG 0 Silent T 53 PLD1 SNP 3 T C 172820934 172820934 WashU PAPPA2 60676 genome.wustl.edu GRCh37 1 176668566 176668566 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367662.3:c.3077A>G p.Asp1026Gly p.D1026G ENST00000367662 NM_020318.2 1026 gAt/gGt 0 Missense_Mutation A 12 PAPPA2 SNP 1 A G 174935189 174935189 WashU NLRP3 114548 genome.wustl.edu GRCh37 1 247607359 247607359 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336119.3:c.2755C>G p.Leu919Val p.L919V ENST00000336119 NM_001127462.2 919 Ctg/Gtg 0 Missense_Mutation C 24 NLRP3 SNP 1 C G 245673982 245673982 WashU ABCB11 8647 genome.wustl.edu GRCh37 2 169801416 169801416 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000263817.6:c.2399T>C p.Leu800Pro p.L800P ENST00000263817 NM_003742.2 800 cTa/cCa 0 Missense_Mutation A 15 ABCB11 SNP 2 A G 169509662 169509662 WashU SLIT2 9353 genome.wustl.edu GRCh37 4 20619224 20619224 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000504154.1:c.4299G>A p.Gln1433= p.Q1433= ENST00000504154 NM_004787.1 1433 caG/caA 0 Silent G 34 SLIT2 SNP 4 A G 20228322 20228322 WashU TP53 7157 genome.wustl.edu GRCh37 17 7576852 7576852 + splice_donor_variant Splice_Site SNP C C G novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C Verified Unknown Somatic Phase_III PCR Unknown dbGAP Sanger_PCR_WGA ENST00000269305.4:c.993+1G>C p.X331_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 18 TP53 SNP 17 C G 7517577 7517577 WashU TRIM51 84767 genome.wustl.edu GRCh37 11 55653305 55653305 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000449290.2:c.401A>T p.Glu134Val p.E134V ENST00000449290 NM_032681.3 134 gAg/gTg 0 Missense_Mutation A 11 SPRYD5 SNP 11 A T 55409881 55409881 WashU ANO8 57719 genome.wustl.edu GRCh37 19 17435902 17435902 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000159087.4:c.2955G>C p.Gln985His p.Q985H ENST00000159087 NM_020959.2 985 caG/caC 0 Missense_Mutation C 24 ANO8 SNP 19 C G 17296902 17296902 WashU PATZ1 23598 genome.wustl.edu GRCh37 22 31731753 31731753 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1436-01 TCGA-24-1436-10 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000266269.5:c.1432C>T p.Arg478Trp p.R478W ENST00000266269 NM_014323.2 478 Cgg/Tgg 0 Missense_Mutation G 38 PATZ1 SNP 22 G A 30061753 30061753 WashU CDC5L 988 genome.wustl.edu GRCh37 6 44394441 44394441 + frameshift_variant Frame_Shift_Del DEL T T - Unknown TCGA-24-1436-01 TCGA-24-1436-10 T T T - T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000371477.3:c.1873del p.Ser625ProfsTer5 p.S625Pfs*5 ENST00000371477 NM_001253.3 625 Tcc/cc 0 Frame_Shift_Del T 54 CDC5L DEL 6 T - 44502419 44502419 WashU NOC2L 26155 broad.mit.edu GRCh37 1 892634 892634 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000327044.6:c.199T>C p.Ser67Pro p.S67P ENST00000327044 NM_015658.3 67 Tct/Cct 0 Missense_Mutation A 11 NOC2L SNP 1 A G 882497 882497 Broad NUDC 10726 broad.mit.edu GRCh37 1 27268302 27268302 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000321265.5:c.422G>A p.Gly141Glu p.G141E ENST00000321265 NM_006600.3 141 gGg/gAg 0 Missense_Mutation G 43 NUDC SNP 1 G A 27140889 27140889 Broad COL16A1 1307 broad.mit.edu GRCh37 1 32157226 32157226 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000373672.3:c.1275C>A p.Ile425= p.I425= ENST00000373672 NM_001856.3 425 atC/atA 0 Silent G 33 COL16A1 SNP 1 G T 31929813 31929813 Broad ST3GAL3 6487 broad.mit.edu GRCh37 1 44395826 44395826 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000262915.3:c.1268G>A p.Arg423Gln p.R423Q ENST00000262915 NM_174963.3 423 cGa/cAa 0 Missense_Mutation G 37 ST3GAL3 SNP 1 G A 44168413 44168413 Broad CDC7 8317 broad.mit.edu GRCh37 1 91973480 91973480 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000428239.1:c.185A>G p.Asp62Gly p.D62G ENST00000428239 NM_001134420.1 62 gAc/gGc 0 Missense_Mutation A 10 CDC7 SNP 1 A G 91746068 91746068 Broad ARHGAP21 57584 broad.mit.edu GRCh37 10 24909163 24909163 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000396432.2:c.1661G>C p.Arg554Pro p.R554P ENST00000396432 NM_020824.3 554 cGa/cCa 0 Missense_Mutation C 31 ARHGAP21 SNP 10 C G 24949169 24949169 Broad DNMBP 23268 broad.mit.edu GRCh37 10 101659761 101659761 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000324109.4:c.2617C>A p.His873Asn p.H873N ENST00000324109 NM_015221.2 873 Cat/Aat 0 Missense_Mutation G 45 DNMBP SNP 10 G T 101649751 101649751 Broad WDR96 80217 broad.mit.edu GRCh37 10 105920866 105920866 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000357060.3:c.3469G>A p.Glu1157Lys p.E1157K ENST00000357060 NM_025145.5 1157 Gaa/Aaa 0 Missense_Mutation C 32 C10orf79 SNP 10 C T 105910856 105910856 Broad KIF18A 81930 broad.mit.edu GRCh37 11 28045385 28045385 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000263181.6:c.2517C>G p.Asn839Lys p.N839K ENST00000263181 NM_031217.3 839 aaC/aaG 0 Missense_Mutation G 48 KIF18A SNP 11 G C 28001961 28001961 Broad TTC17 55761 broad.mit.edu GRCh37 11 43429058 43429058 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000039989.4:c.1995G>C p.Leu665Phe p.L665F ENST00000039989 NM_018259.5 665 ttG/ttC 0 Missense_Mutation G 45 TTC17 SNP 11 G C 43385634 43385634 Broad SSSCA1 10534 broad.mit.edu GRCh37 11 65337979 65337979 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000309328.3:c.17C>A p.Ala6Asp p.A6D ENST00000309328 NM_006396.1 6 gCt/gAt 0 Missense_Mutation C 28 SSSCA1 SNP 11 C A 65094555 65094555 Broad TRPC6 7225 broad.mit.edu GRCh37 11 101374891 101374891 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000344327.3:c.809C>A p.Ser270Tyr p.S270Y ENST00000344327 NM_004621.5 270 tCc/tAc 0 Missense_Mutation G 41 TRPC6 SNP 11 G T 100880101 100880101 Broad USP2 9099 broad.mit.edu GRCh37 11 119227995 119227995 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000260187.2:c.1632C>T p.Tyr544= p.Y544= ENST00000260187 NM_004205.4 544 taC/taT 0 Silent G 40 USP2 SNP 11 G A 118733205 118733205 Broad ZBTB44 29068 broad.mit.edu GRCh37 11 130130762 130130762 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000525842.1:c.1007C>T p.Ser336Phe p.S336F ENST00000525842 NM_014155.4 336 tCt/tTt 0 Missense_Mutation G 33 ZBTB44 SNP 11 G A 129635972 129635972 Broad PRMT8 56341 broad.mit.edu GRCh37 12 3702270 3702270 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000382622.3:c.1107C>T p.Asp369= p.D369= ENST00000382622 NM_019854.4 369 gaC/gaT 0 Silent C 18 PRMT8 SNP 12 C T 3572531 3572531 Broad SLC39A5 283375 broad.mit.edu GRCh37 12 56630437 56630437 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000266980.4:c.1114G>A p.Gly372Ser p.G372S ENST00000266980 NM_001135195.1 372 Ggc/Agc 0 Missense_Mutation G 35 SLC39A5 SNP 12 G A 54916704 54916704 Broad PIWIL1 9271 broad.mit.edu GRCh37 12 130831585 130831585 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000245255.3:c.631T>A p.Phe211Ile p.F211I ENST00000245255 NM_004764.4 211 Ttc/Atc 0 Missense_Mutation T 60 PIWIL1 SNP 12 T A 129397538 129397538 Broad RBM25 58517 broad.mit.edu GRCh37 14 73578334 73578334 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000261973.7:c.2116G>A p.Val706Ile p.V706I ENST00000261973 NM_021239.2 706 Gta/Ata 0 Missense_Mutation G 40 RBM25 SNP 14 G A 72648087 72648087 Broad OR4N4 283694 broad.mit.edu GRCh37 15 22382523 22382523 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000328795.4:c.51G>C p.Leu17= p.L17= ENST00000328795 NM_001005241.2 17 ctG/ctC 0 Silent G 45 OR4N4 SNP 15 G C 19883887 19883887 Broad MGA 23269 broad.mit.edu GRCh37 15 42041563 42041563 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000219905.7:c.5758A>G p.Thr1920Ala p.T1920A ENST00000219905 NM_001164273.1 1920 Acc/Gcc 0 Missense_Mutation A 2 MGA SNP 15 A G 39828855 39828855 Broad SPTBN5 51332 broad.mit.edu GRCh37 15 42168422 42168423 + missense_variant Missense_Mutation DNP CA CA TT novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000320955.6:c.4011_4012delinsAA p.Ala1338Thr p.A1338T ENST00000320955 NM_016642.3 1337 gcTGcg/gcAAcg 0 Missense_Mutation CA 25 SPTBN5 DNP 15 CA TT 39955715 39955714 Broad ZNF48 197407 broad.mit.edu GRCh37 16 30409092 30409092 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000320159.2:c.521C>A p.Ala174Asp p.A174D ENST00000320159 NM_152652.2 174 gCc/gAc 0 Missense_Mutation C 26 ZNF48 SNP 16 C A 30316593 30316593 Broad TP53 7157 broad.mit.edu GRCh37 17 7577551 7577551 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.730G>T p.Gly244Cys p.G244C ENST00000269305 NM_001126112.2 244 Ggc/Tgc 0 Missense_Mutation C 22 TP53 SNP 17 C A 7518276 7518276 Broad STAT5B 6777 broad.mit.edu GRCh37 17 40359726 40359726 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000293328.3:c.1927C>G p.Leu643Val p.L643V ENST00000293328 NM_012448.3 643 Ctg/Gtg 0 Missense_Mutation G 33 STAT5B SNP 17 G C 37613252 37613252 Broad ATP8B1 5205 broad.mit.edu GRCh37 18 55355593 55355593 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000536015.1:c.1367C>T p.Thr456Met p.T456M ENST00000536015 NM_005603.4 456 aCg/aTg 0 Missense_Mutation G 40 ATP8B1 SNP 18 G A 53506591 53506591 Broad LONP1 9361 broad.mit.edu GRCh37 19 5700873 5700873 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000360614.3:c.1433T>A p.Leu478Gln p.L478Q ENST00000360614 NM_004793.3 478 cTg/cAg 0 Missense_Mutation A 7 LONP1 SNP 19 A T 5651873 5651873 Broad PIK3R2 5296 broad.mit.edu GRCh37 19 18276981 18276981 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000222254.8:c.1428G>A p.Met476Ile p.M476I ENST00000222254 NM_005027.3 476 atG/atA 0 Missense_Mutation G 45 PIK3R2 SNP 19 G A 18137981 18137981 Broad IL4I1 259307 broad.mit.edu GRCh37 19 50399262 50399262 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000595948.1:c.128C>G p.Ser43Cys p.S43C ENST00000595948 NM_001258018.1 43 tCc/tGc 0 Missense_Mutation G 41 IL4I1 SNP 19 G C 55091074 55091074 Broad PPP2R1A 5518 broad.mit.edu GRCh37 19 52715982 52715982 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000322088.6:c.547C>T p.Arg183Trp p.R183W ENST00000322088 NM_014225.5 183 Cgg/Tgg 0 Missense_Mutation C 27 PPP2R1A SNP 19 C T 57407794 57407794 Broad YIPF4 84272 broad.mit.edu GRCh37 2 32517297 32517297 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000238831.4:c.285T>C p.Val95= p.V95= ENST00000238831 NM_032312.3 95 gtT/gtC 0 Silent T 64 YIPF4 SNP 2 T C 32370801 32370801 Broad SNRNP200 23020 broad.mit.edu GRCh37 2 96949058 96949058 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000323853.5:c.4796C>T p.Pro1599Leu p.P1599L ENST00000323853 NM_014014.4 1599 cCg/cTg 0 Missense_Mutation G 39 SNRNP200 SNP 2 G A 96312785 96312785 Broad IL18R1 8809 broad.mit.edu GRCh37 2 103013236 103013236 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000409599.1:c.1516C>G p.Leu506Val p.L506V ENST00000409599 506 Ctt/Gtt 0 Missense_Mutation C 32 IL18R1 SNP 2 C G 102379668 102379668 Broad GRB14 2888 broad.mit.edu GRCh37 2 165349666 165349666 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000263915.3:c.1503C>T p.His501= p.H501= ENST00000263915 NM_004490.2 501 caC/caT 0 Silent G 48 GRB14 SNP 2 G A 165057912 165057912 Broad CCDC141 285025 broad.mit.edu GRCh37 2 179702417 179702417 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000420890.2:c.3529C>T p.Leu1177= p.L1177= ENST00000420890 NM_173648.3 1177 Cta/Tta 0 Silent G 36 CCDC141 SNP 2 G A 179410662 179410662 Broad LANCL1 10314 broad.mit.edu GRCh37 2 211299245 211299245 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000443314.1:c.1166C>T p.Pro389Leu p.P389L ENST00000443314 389 cCc/cTc 0 Missense_Mutation G 43 LANCL1 SNP 2 G A 211007490 211007490 Broad OR6B3 150681 broad.mit.edu GRCh37 2 240985328 240985328 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000319423.4:c.162C>A p.Ser54= p.S54= ENST00000319423 NM_173351.1 54 tcC/tcA 0 Silent G 43 OR6B3 SNP 2 G T 240634001 240634001 Broad ANO7 50636 broad.mit.edu GRCh37 2 242149886 242149886 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000274979.8:c.1624T>G p.Ser542Ala p.S542A ENST00000274979 NM_001001891.3 542 Tct/Gct 0 Missense_Mutation T 54 ANO7 SNP 2 T G 241798559 241798559 Broad VSTM2L 128434 broad.mit.edu GRCh37 20 36572444 36572444 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000373461.4:c.404C>T p.Thr135Met p.T135M ENST00000373461 NM_080607.2 135 aCg/aTg 0 Missense_Mutation C 19 VSTM2L SNP 20 C T 36005858 36005858 Broad KRTAP13-1 140258 broad.mit.edu GRCh37 21 31768590 31768590 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000355459.2:c.186G>T p.Glu62Asp p.E62D ENST00000355459 NM_181599.2 62 gaG/gaT 0 Missense_Mutation G 34 KRTAP13-1 SNP 21 G T 30690461 30690461 Broad MN1 4330 broad.mit.edu GRCh37 22 28194044 28194044 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000302326.4:c.2488A>G p.Thr830Ala p.T830A ENST00000302326 NM_002430.2 830 Acc/Gcc 0 Missense_Mutation T 59 MN1 SNP 22 T C 26524044 26524044 Broad MYH9 4627 broad.mit.edu GRCh37 22 36696211 36696211 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000216181.5:c.2938C>T p.Gln980Ter p.Q980* ENST00000216181 NM_002473.4 980 Cag/Tag 0 Nonsense_Mutation G 46 MYH9 SNP 22 G A 35026157 35026157 Broad MSANTD1 345222 broad.mit.edu GRCh37 4 3255148 3255148 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000438480.2:c.535G>A p.Glu179Lys p.E179K ENST00000438480 NM_001042690.1 179 Gaa/Aaa 0 Missense_Mutation G 37 C4orf44 SNP 4 G A 3224946 3224946 Broad PPP2R2C 5522 broad.mit.edu GRCh37 4 6374266 6374266 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000335585.5:c.609C>A p.Ile203= p.I203= ENST00000335585 NM_181876.2 203 atC/atA 0 Silent G 45 PPP2R2C SNP 4 G T 6425167 6425167 Broad DNAH5 1767 broad.mit.edu GRCh37 5 13770873 13770873 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000265104.4:c.9590G>A p.Arg3197Gln p.R3197Q ENST00000265104 NM_001369.2 3197 cGg/cAg 0 Missense_Mutation C 23 DNAH5 SNP 5 C T 13823873 13823873 Broad GIN1 54826 broad.mit.edu GRCh37 5 102423841 102423841 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000399004.2:c.1330G>C p.Asp444His p.D444H ENST00000399004 NM_017676.2 444 Gat/Cat 0 Missense_Mutation C 32 GIN1 SNP 5 C G 102451740 102451740 Broad SLC23A1 9963 broad.mit.edu GRCh37 5 138718925 138718925 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000353963.3:c.18C>G p.Asp6Glu p.D6E ENST00000353963 NM_152685.3 6 gaC/gaG 0 Missense_Mutation G 44 SLC23A1 SNP 5 G C 138746824 138746824 Broad PCDHB3 56132 broad.mit.edu GRCh37 5 140481609 140481609 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000231130.2:c.1376T>C p.Phe459Ser p.F459S ENST00000231130 NM_018937.2 459 tTc/tCc 0 Missense_Mutation T 62 PCDHB3 SNP 5 T C 140461793 140461793 Broad FCHSD1 89848 broad.mit.edu GRCh37 5 141021095 141021095 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000435817.2:c.2043G>A p.Pro681= p.P681= ENST00000435817 NM_033449.2 681 ccG/ccA 0 Silent C 23 FCHSD1 SNP 5 C T 141001279 141001279 Broad RANBP6 26953 broad.mit.edu GRCh37 9 6013873 6013873 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000259569.5:c.1735G>A p.Glu579Lys p.E579K ENST00000259569 NM_012416.3 579 Gaa/Aaa 0 Missense_Mutation C 30 RANBP6 SNP 9 C T 6003873 6003873 Broad FIGF 2277 broad.mit.edu GRCh37 X 15376214 15376214 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000297904.3:c.403C>T p.Pro135Ser p.P135S ENST00000297904 NM_004469.4 135 Cct/Tct 0 Missense_Mutation G 43 FIGF SNP 23 G A 15286135 15286135 Broad CNKSR2 22866 broad.mit.edu GRCh37 X 21627436 21627436 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000379510.3:c.2393C>T p.Ala798Val p.A798V ENST00000379510 NM_014927.3 798 gCg/gTg 0 Missense_Mutation C 27 CNKSR2 SNP 23 C T 21537357 21537357 Broad SLC25A14 9016 broad.mit.edu GRCh37 X 129479159 129479159 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown x x x ENST00000218197.5:c.79C>A p.Gln27Lys p.Q27K ENST00000218197 NM_022810.1 27 Cag/Aag 0 Missense_Mutation C 21 SLC25A14 SNP 23 C A 129306840 129306840 Broad FOXN4 121643 broad.mit.edu GRCh37 12 109717631 109717639 + inframe_deletion In_Frame_Del DEL GGGTTAGGC GGGTTAGGC - novel Unknown TCGA-61-2111-01 TCGA-61-2111-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000299162.5:c.1391_1399del p.Gly464_Pro467delinsAla p.G464_P467delinsA ENST00000299162 NM_213596.2 464 gGCCTAACCCct/gct 0 In_Frame_Del GGGTTAGGC 43 FOXN4 DEL 12 - GGGTTAGGC 108202022 108202014 Broad OLFML1 283298 genome.wustl.edu GRCh37 11 7530967 7530967 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329293.3:c.757C>G p.Pro253Ala p.P253A ENST00000329293 NM_198474.3 253 Cca/Gca 0 Missense_Mutation C 22 OLFML1 SNP 11 C G 7487543 7487543 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578263 7578263 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.586C>T p.Arg196Ter p.R196* ENST00000269305 NM_001126112.2 196 Cga/Tga 0 Nonsense_Mutation G 39 TP53 SNP 17 G A 7518988 7518988 WashU MYO1D 4642 genome.wustl.edu GRCh37 17 31082586 31082586 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318217.5:c.1391G>T p.Gly464Val p.G464V ENST00000318217 NM_015194.1 464 gGc/gTc 0 Missense_Mutation C 26 MYO1D SNP 17 C A 28106699 28106699 WashU DEPDC5 9681 genome.wustl.edu GRCh37 22 32253446 32253446 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382112.3:c.3144G>A p.Gln1048= p.Q1048= ENST00000382112 NM_001136029.2 1048 caG/caA 0 Silent G 34 DEPDC5 SNP 22 G A 30583446 30583446 WashU TNXB 7148 genome.wustl.edu GRCh37 6 32035624 32035624 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375244.3:c.6358G>T p.Gly2120Cys p.G2120C ENST00000375244 2120 Ggc/Tgc 0 Missense_Mutation C 22 TNXB SNP 6 C A 32143602 32143602 WashU CAPRIN1 4076 genome.wustl.edu GRCh37 11 34098146 34098146 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341394.4:c.645G>T p.Trp215Cys p.W215C ENST00000341394 NM_005898.4 215 tgG/tgT 0 Missense_Mutation G 43 CAPRIN1 SNP 11 G T 34054722 34054722 WashU FSCB 84075 genome.wustl.edu GRCh37 14 44974063 44974063 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340446.4:c.2128G>C p.Glu710Gln p.E710Q ENST00000340446 NM_032135.3 710 Gaa/Caa 0 Missense_Mutation C 32 FSCB SNP 14 C G 44043813 44043813 WashU AGAP4 119016 genome.wustl.edu GRCh37 10 46321476 46321476 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000448048.2:c.1879G>A p.Val627Ile p.V627I ENST00000448048 NM_133446.2 627 Gtc/Atc 0 Missense_Mutation C 19 AGAP4 SNP 10 C T 45641482 45641482 WashU NIN 51199 genome.wustl.edu GRCh37 14 51221340 51221340 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382041.3:c.4675G>A p.Glu1559Lys p.E1559K ENST00000382041 NM_016350.4 1559 Gaa/Aaa 0 Missense_Mutation C 30 NIN SNP 14 C T 50291090 50291090 WashU EML2 24139 genome.wustl.edu GRCh37 19 46116930 46116930 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000587152.1:c.2297-1G>A p.X766_splice ENST00000587152 NM_001193268.1 0 Splice_Site_SNP C 24 EML2 SNP 19 C T 50808770 50808770 WashU ZCCHC11 23318 genome.wustl.edu GRCh37 1 52941173 52941173 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257177.4:c.2058C>T p.Ser686= p.S686= ENST00000257177 686 agC/agT 0 Silent G 34 ZCCHC11 SNP 1 G A 52713761 52713761 WashU SCFD2 152579 genome.wustl.edu GRCh37 4 54231616 54231616 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000401642.3:c.493C>T p.Pro165Ser p.P165S ENST00000401642 NM_152540.3 165 Ccc/Tcc 0 Missense_Mutation G 41 SCFD2 SNP 4 G A 53926373 53926373 WashU GPR75 10936 genome.wustl.edu GRCh37 2 54080567 54080567 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394705.2:c.1327G>T p.Asp443Tyr p.D443Y ENST00000394705 NM_006794.3 443 Gac/Tac 0 Missense_Mutation C 30 GPR75 SNP 2 C A 53934071 53934071 WashU SIGLEC11 114132 genome.wustl.edu GRCh37 19 50461973 50461973 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000447370.2:c.1290C>T p.His430= p.H430= ENST00000447370 NM_052884.2 430 caC/caT 0 Silent G 40 SIGLEC11 SNP 19 G A 55153785 55153785 WashU OR8H3 390152 genome.wustl.edu GRCh37 11 55890368 55890368 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313472.3:c.520A>T p.Ile174Phe p.I174F ENST00000313472 NM_001005201.1 174 Att/Ttt 0 Missense_Mutation A 4 OR8H3 SNP 11 A T 55646944 55646944 WashU KIR2DL3 3804 genome.wustl.edu GRCh37 19 55255434 55255434 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342376.3:c.562G>A p.Gly188Ser p.G188S ENST00000342376 NM_015868.2 188 Ggc/Agc 0 Missense_Mutation G 43 KIR2DL3 SNP 19 G A 59947246 59947246 WashU SYNE2 23224 genome.wustl.edu GRCh37 14 64457275 64457275 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358025.3:c.2460A>G p.Lys820= p.K820= ENST00000358025 NM_182914.2 820 aaA/aaG 0 Silent A 3 SYNE2 SNP 14 A G 63527028 63527028 WashU SF3B3 23450 genome.wustl.edu GRCh37 16 70575628 70575628 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302516.5:c.1124C>T p.Ser375Leu p.S375L ENST00000302516 NM_012426.4 375 tCa/tTa 0 Missense_Mutation C 29 SF3B3 SNP 16 C T 69133129 69133129 WashU GBP1 2633 genome.wustl.edu GRCh37 1 89522551 89522551 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370473.4:c.1141C>T p.Gln381Ter p.Q381* ENST00000370473 NM_002053.2 381 Caa/Taa 0 Nonsense_Mutation G 45 GBP1 SNP 1 G A 89295139 89295139 WashU EPHA3 2042 genome.wustl.edu GRCh37 3 89259500 89259500 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336596.2:c.644C>T p.Thr215Met p.T215M ENST00000336596 NM_005233.5 215 aCg/aTg 0 Missense_Mutation C 19 EPHA3 SNP 3 C T 89342190 89342190 WashU AGL 178 genome.wustl.edu GRCh37 1 100349684 100349684 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294724.4:c.2317G>A p.Glu773Lys p.E773K ENST00000294724 NM_000028.2 773 Gaa/Aaa 0 Missense_Mutation G 45 AGL SNP 1 G A 100122272 100122272 WashU CENPE 1062 genome.wustl.edu GRCh37 4 104037760 104037760 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265148.3:c.7416G>A p.Met2472Ile p.M2472I ENST00000265148 NM_001813.2 2472 atG/atA 0 Missense_Mutation C 29 CENPE SNP 4 C T 104257209 104257209 WashU COL4A6 1288 genome.wustl.edu GRCh37 X 107417827 107417827 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372216.4:c.2984C>A p.Pro995His p.P995H ENST00000372216 NM_001847.2 995 cCt/cAt 0 Missense_Mutation G 35 COL4A6 SNP 23 G T 107304483 107304483 WashU KIAA1407 57577 genome.wustl.edu GRCh37 3 113737638 113737638 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295878.3:c.1050G>T p.Leu350= p.L350= ENST00000295878 NM_020817.1 350 ctG/ctT 0 Silent C 17 KIAA1407 SNP 3 C A 115220328 115220328 WashU ACP6 51205 genome.wustl.edu GRCh37 1 147126384 147126384 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369238.6:c.705G>T p.Val235= p.V235= ENST00000369238 NM_016361.4 235 gtG/gtT 0 Silent C 29 ACP6 SNP 1 C A 145593008 145593008 WashU GIMAP8 155038 genome.wustl.edu GRCh37 7 150174229 150174229 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307271.3:c.1359G>A p.Ala453= p.A453= ENST00000307271 NM_175571.2 453 gcG/gcA 0 Silent G 37 GIMAP8 SNP 7 G A 149805162 149805162 WashU OR6N1 128372 genome.wustl.edu GRCh37 1 158735656 158735656 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335094.2:c.817G>T p.Ala273Ser p.A273S ENST00000335094 NM_001005185.1 273 Gcc/Tcc 0 Missense_Mutation C 26 OR6N1 SNP 1 C A 157002280 157002280 WashU ACP6 51205 genome.wustl.edu GRCh37 1 147126379 147126380 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 - - - A - - Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000369238.6:c.709_710insT p.Asp237ValfsTer6 p.D237Vfs*6 ENST00000369238 NM_016361.4 237 gac/gTac 0 Frame_Shift_Ins - 58 ACP6 INS 1 - A 145593004 145593003 WashU OLFM3 118427 genome.wustl.edu GRCh37 1 102269828 102269828 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370103.4:c.1343T>G p.Leu448Arg p.L448R ENST00000370103 NM_058170.2 448 cTt/cGt 0 Missense_Mutation A 3 OLFM3 SNP 1 A C 102042416 102042416 WashU PAX9 5083 genome.wustl.edu GRCh37 14 37132540 37132540 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361487.6:c.443C>T p.Pro148Leu p.P148L ENST00000361487 148 cCg/cTg 0 Missense_Mutation C 23 PAX9 SNP 14 C T 36202291 36202291 WashU IRGQ 126298 genome.wustl.edu GRCh37 19 44099167 44099167 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422989.1:c.324C>T p.Thr108= p.T108= ENST00000422989 NM_001007561.2 108 acC/acT 0 Silent G 43 IRGQ SNP 19 G A 48791007 48791007 WashU AC009299.4 643194 genome.wustl.edu GRCh37 2 162137759 162137759 + upstream_gene_variant 5'Flank SNP G G C novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000429684 0 Missense_Mutation G 41 LOC643194 SNP 2 G C 161846005 161846005 WashU ZBTB21 49854 genome.wustl.edu GRCh37 21 43414201 43414202 + stop_gained,start_lost Nonsense_Mutation DNP CC CC AG novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310826.5:c.3_4delinsCT p.MetGlu1_?2 p.ME1_?2 ENST00000310826 NM_001098402.1 1 atGGag/atCTag 0 Missense CC 30 ZNF295 DNP 21 CC AG 42287271 42287270 WashU IPPK 64768 genome.wustl.edu GRCh37 9 95400509 95400509 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1405-01 TCGA-13-1405-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287996.3:c.690G>C p.Trp230Cys p.W230C ENST00000287996 NM_022755.5 230 tgG/tgC 0 Missense_Mutation C 30 IPPK SNP 9 C G 94440330 94440330 WashU PRPF4B 8899 genome.wustl.edu GRCh37 6 4032298 4032298 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337659.6:c.547C>T p.Arg183Ter p.R183* ENST00000337659 NM_003913.4 183 Cga/Tga 0 Nonsense_Mutation C 19 PRPF4B SNP 6 C T 3977297 3977297 WashU OTOP1 133060 genome.wustl.edu GRCh37 4 4190683 4190683 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296358.4:c.1686C>T p.Ala562= p.A562= ENST00000296358 NM_177998.1 562 gcC/gcT 0 Silent G 35 OTOP1 SNP 4 G A 4241584 4241584 WashU RASSF2 9770 genome.wustl.edu GRCh37 20 4766926 4766926 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379400.3:c.862C>G p.Gln288Glu p.Q288E ENST00000379400 NM_014737.2 288 Cag/Gag 0 Missense_Mutation G 45 RASSF2 SNP 20 G C 4714926 4714926 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C T rs28934576 Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.818G>A p.Arg273His p.R273H ENST00000269305 NM_001126112.2 273 cGt/cAt 0 Missense_Mutation C 19 TP53 SNP 17 T T 7517845 7517845 WashU ODF4 146852 genome.wustl.edu GRCh37 17 8248732 8248732 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328248.2:c.526T>A p.Ser176Thr p.S176T ENST00000328248 NM_153007.4 176 Tcc/Acc 0 Missense_Mutation T 50 ODF4 SNP 17 T A 8189457 8189457 WashU PLOD1 5351 genome.wustl.edu GRCh37 1 12016982 12016982 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000196061.4:c.652G>A p.Val218Met p.V218M ENST00000196061 NM_000302.3 218 Gtg/Atg 0 Missense_Mutation G 40 PLOD1 SNP 1 G A 11939569 11939569 WashU LDLRAD4 753 genome.wustl.edu GRCh37 18 13438245 13438245 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361205.4:c.43T>A p.Cys15Ser p.C15S ENST00000361205 15 Tgc/Agc 0 Missense_Mutation T 59 C18orf1 SNP 18 T A 13428245 13428245 WashU FAM105A 54491 genome.wustl.edu GRCh37 5 14609106 14609106 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274217.3:c.877G>A p.Asp293Asn p.D293N ENST00000274217 NM_019018.2 293 Gac/Aac 0 Missense_Mutation G 37 FAM105A SNP 5 G A 14662106 14662106 WashU PGLYRP2 114770 genome.wustl.edu GRCh37 19 15587150 15587150 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340880.4:c.331G>T p.Val111Leu p.V111L ENST00000340880 NM_052890.3 111 Gtg/Ttg 0 Missense_Mutation C 18 PGLYRP2 SNP 19 C A 15448150 15448150 WashU CCDC144A 9720 genome.wustl.edu GRCh37 17 16610838 16610838 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000443444.2:c.720C>T p.Cys240= p.C240= ENST00000443444 240 tgC/tgT 0 Silent C 27 CCDC144A SNP 17 C T 16551563 16551563 WashU KIF13A 63971 genome.wustl.edu GRCh37 6 17834246 17834246 + synonymous_variant Silent SNP T T C novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000259711.6:c.1212A>G p.Lys404= p.K404= ENST00000259711 NM_022113.5 404 aaA/aaG 0 Silent T 56 KIF13A SNP 6 T C 17942225 17942225 WashU PRPS1L1 221823 genome.wustl.edu GRCh37 7 18067261 18067261 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000506618.2:c.145C>T p.Arg49Cys p.R49C ENST00000506618 NM_175886.2 49 Cgt/Tgt 0 Missense_Mutation G 38 PRPS1L1 SNP 7 G A 18033786 18033786 WashU OSBPL1A 114876 genome.wustl.edu GRCh37 18 21776114 21776114 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319481.3:c.1652G>C p.Ser551Thr p.S551T ENST00000319481 NM_080597.3 551 aGc/aCc 0 Missense_Mutation C 28 OSBPL1A SNP 18 C G 20030112 20030112 WashU MACC1 346389 genome.wustl.edu GRCh37 7 20199641 20199641 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400331.5:c.343T>A p.Ser115Thr p.S115T ENST00000400331 NM_182762.3 115 Tcc/Acc 0 Missense_Mutation A 9 MACC1 SNP 7 A T 20166166 20166166 WashU SLCO1C1 53919 genome.wustl.edu GRCh37 12 20890097 20890097 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381552.1:c.1439G>A p.Cys480Tyr p.C480Y ENST00000381552 480 tGc/tAc 0 Missense_Mutation G 46 SLCO1C1 SNP 12 G A 20781364 20781364 WashU TEFM 79736 genome.wustl.edu GRCh37 17 29227563 29227563 + synonymous_variant Silent SNP T T G novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000581216.1:c.513A>C p.Ile171= p.I171= ENST00000581216 NM_024683.3 171 atA/atC 0 Silent T 49 C17orf42 SNP 17 T G 26251689 26251689 WashU MYO3A 53904 genome.wustl.edu GRCh37 10 26463391 26463391 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265944.5:c.4198C>T p.His1400Tyr p.H1400Y ENST00000265944 NM_017433.4 1400 Cat/Tat 0 Missense_Mutation C 17 MYO3A SNP 10 C T 26503397 26503397 WashU KCNA4 3739 genome.wustl.edu GRCh37 11 30032817 30032817 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328224.6:c.1409C>A p.Thr470Asn p.T470N ENST00000328224 NM_002233.3 470 aCc/aAc 0 Missense_Mutation G 44 KCNA4 SNP 11 G T 29989393 29989393 WashU NOTCH4 4855 genome.wustl.edu GRCh37 6 32188309 32188309 + synonymous_variant Silent SNP C C G novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375023.3:c.1032G>C p.Val344= p.V344= ENST00000375023 NM_004557.3 344 gtG/gtC 0 Silent C 29 NOTCH4 SNP 6 C G 32296287 32296287 WashU DMD 1756 genome.wustl.edu GRCh37 X 32583900 32583900 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357033.4:c.1911C>A p.Thr637= p.T637= ENST00000357033 NM_004007.2 637 acC/acA 0 Silent G 43 DMD SNP 23 T T 32493821 32493821 WashU FEZ2 9637 genome.wustl.edu GRCh37 2 36805938 36805938 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379245.4:c.705C>A p.Tyr235Ter p.Y235* ENST00000379245 NM_001042548.1 235 taC/taA 0 Nonsense_Mutation G 36 FEZ2 SNP 2 G T 36659442 36659442 WashU TBC1D1 23216 genome.wustl.edu GRCh37 4 37904125 37904125 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261439.4:c.409C>T p.Gln137Ter p.Q137* ENST00000261439 NM_015173.3 137 Caa/Taa 0 Nonsense_Mutation C 29 TBC1D1 SNP 4 C T 37580520 37580520 WashU LRFN5 145581 genome.wustl.edu GRCh37 14 42361150 42361150 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298119.4:c.2083G>C p.Ala695Pro p.A695P ENST00000298119 NM_152447.3 695 Gca/Cca 0 Missense_Mutation G 34 LRFN5 SNP 14 G C 41430900 41430900 WashU SLC30A9 10463 genome.wustl.edu GRCh37 4 42020141 42020141 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264451.7:c.288C>T p.Gly96= p.G96= ENST00000264451 NM_006345.3 96 ggC/ggT 0 Silent C 25 SLC30A9 SNP 4 C T 41714898 41714898 WashU CCDC36 339834 genome.wustl.edu GRCh37 3 49294667 49294667 + synonymous_variant Silent SNP T T C novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000438782.1:c.1737T>C p.Asn579= p.N579= ENST00000438782 579 aaT/aaC 0 Silent T 52 CCDC36 SNP 3 T C 49269671 49269671 WashU RBM6 10180 genome.wustl.edu GRCh37 3 50103789 50103789 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000266022.4:c.2797C>G p.Pro933Ala p.P933A ENST00000266022 NM_005777.2 933 Ccc/Gcc 0 Missense_Mutation C 26 RBM6 SNP 3 C G 50078793 50078793 WashU SCN8A 6334 genome.wustl.edu GRCh37 12 52145297 52145297 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354534.6:c.2290G>A p.Val764Ile p.V764I ENST00000354534 NM_014191.3 764 Gtc/Atc 0 Missense_Mutation G 40 SCN8A SNP 12 G A 50431564 50431564 WashU MLIP 90523 genome.wustl.edu GRCh37 6 53989392 53989392 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274897.5:c.341A>G p.Asn114Ser p.N114S ENST00000274897 NM_138569.2 114 aAc/aGc 0 Missense_Mutation A 2 C6orf142 SNP 6 A G 54097351 54097351 WashU BICC1 80114 genome.wustl.edu GRCh37 10 60549098 60549098 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373886.3:c.677C>A p.Pro226His p.P226H ENST00000373886 NM_001080512.1 226 cCc/cAc 0 Missense_Mutation C 22 BICC1 SNP 10 C A 60219104 60219104 WashU PACS1 55690 genome.wustl.edu GRCh37 11 66002792 66002792 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000320580.4:c.2125C>G p.Arg709Gly p.R709G ENST00000320580 NM_018026.3 709 Cgg/Ggg 0 Missense_Mutation C 27 PACS1 SNP 11 C G 65759368 65759368 WashU IL12RB2 3595 genome.wustl.edu GRCh37 1 67787504 67787504 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262345.1:c.296T>G p.Phe99Cys p.F99C ENST00000262345 NM_001559.2 99 tTt/tGt 0 Missense_Mutation T 64 IL12RB2 SNP 1 T G 67560092 67560092 WashU MYBL1 4603 genome.wustl.edu GRCh37 8 67492549 67492549 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000522677.3:c.920T>C p.Met307Thr p.M307T ENST00000522677 NM_001080416.2 307 aTg/aCg 0 Missense_Mutation A 8 MYBL1 SNP 8 A G 67655103 67655103 WashU DTX2 113878 genome.wustl.edu GRCh37 7 76111908 76111908 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324432.5:c.352G>T p.Asp118Tyr p.D118Y ENST00000324432 NM_020892.2 118 Gat/Tat 0 Missense_Mutation G 37 DTX2 SNP 7 G T 75949844 75949844 WashU BNC1 646 genome.wustl.edu GRCh37 15 83935704 83935704 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000345382.2:c.319C>T p.Arg107Cys p.R107C ENST00000345382 NM_001717.3 107 Cgc/Tgc 0 Missense_Mutation G 37 BNC1 SNP 15 G A 81726708 81726708 WashU NECAB2 54550 genome.wustl.edu GRCh37 16 84035457 84035457 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000305202.4:c.1068G>A p.Ala356= p.A356= ENST00000305202 NM_019065.2 356 gcG/gcA 0 Silent G 40 NECAB2 SNP 16 G A 82592958 82592958 WashU ENTPD1 953 genome.wustl.edu GRCh37 10 97624620 97624620 + splice_donor_variant Splice_Site SNP T T C novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371207.3:c.1362+2T>C p.X454_splice ENST00000371207 NM_001164178.1 0 Splice_Site_SNP T 57 ENTPD1 SNP 10 T C 97614610 97614610 WashU VPS13B 157680 genome.wustl.edu GRCh37 8 100128073 100128073 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358544.2:c.908A>G p.His303Arg p.H303R ENST00000358544 NM_017890.4 303 cAt/cGt 0 Missense_Mutation A 8 VPS13B SNP 8 A G 100197249 100197249 WashU SASS6 163786 genome.wustl.edu GRCh37 1 100573197 100573197 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287482.5:c.1133C>T p.Ala378Val p.A378V ENST00000287482 NM_194292.1 378 gCa/gTa 0 Missense_Mutation G 46 SASS6 SNP 1 G A 100345785 100345785 WashU NALCN 259232 genome.wustl.edu GRCh37 13 102030996 102030996 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000251127.6:c.300T>G p.Ser100Arg p.S100R ENST00000251127 NM_052867.2 100 agT/agG 0 Missense_Mutation A 2 NALCN SNP 13 A C 100828997 100828997 WashU ITGBL1 9358 genome.wustl.edu GRCh37 13 102220075 102220075 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376180.3:c.342G>A p.Lys114= p.K114= ENST00000376180 NM_004791.2 114 aaG/aaA 0 Silent G 36 ITGBL1 SNP 13 G A 101018076 101018076 WashU SLC5A7 60482 genome.wustl.edu GRCh37 2 108622654 108622654 + synonymous_variant Silent SNP A A C novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264047.2:c.891A>C p.Ser297= p.S297= ENST00000264047 NM_021815.2 297 tcA/tcC 0 Silent A 5 SLC5A7 SNP 2 A C 107989086 107989086 WashU KIAA1919 91749 genome.wustl.edu GRCh37 6 111587906 111587906 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368847.4:c.1141C>A p.Pro381Thr p.P381T ENST00000368847 NM_153369.2 381 Cct/Act 0 Missense_Mutation C 22 KIAA1919 SNP 6 C A 111694599 111694599 WashU SVEP1 79987 genome.wustl.edu GRCh37 9 113312349 113312349 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000401783.2:c.567A>T p.Lys189Asn p.K189N ENST00000401783 NM_153366.3 189 aaA/aaT 0 Missense_Mutation T 56 SVEP1 SNP 9 T A 112352170 112352170 WashU MOV10 4343 genome.wustl.edu GRCh37 1 113239067 113239067 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000413052.2:c.1892C>T p.Ser631Leu p.S631L ENST00000413052 NM_001130079.1 631 tCg/tTg 0 Missense_Mutation C 31 MOV10 SNP 1 C T 113040590 113040590 WashU CHAMP1 283489 genome.wustl.edu GRCh37 13 115089582 115089582 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000361283.1:c.265G>C p.Asp89His p.D89H ENST00000361283 NM_032436.2 89 Gac/Cac 0 Missense_Mutation G 33 ZNF828 SNP 13 G C 114107684 114107684 WashU BCL9L 283149 genome.wustl.edu GRCh37 11 118772414 118772414 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334801.3:c.2038C>T p.Arg680Trp p.R680W ENST00000334801 NM_182557.2 680 Cgg/Tgg 0 Missense_Mutation G 38 BCL9L SNP 11 G A 118277624 118277624 WashU ZC3HAV1 56829 genome.wustl.edu GRCh37 7 138768734 138768734 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000242351.5:c.489C>A p.Asn163Lys p.N163K ENST00000242351 NM_020119.3 163 aaC/aaA 0 Missense_Mutation G 44 ZC3HAV1 SNP 7 G T 138419274 138419274 WashU CNTNAP2 26047 genome.wustl.edu GRCh37 7 147844669 147844669 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361727.3:c.2641C>A p.Gln881Lys p.Q881K ENST00000361727 NM_014141.5 881 Cag/Aag 0 Missense_Mutation C 21 CNTNAP2 SNP 7 C A 147475602 147475602 WashU TMLHE 55217 genome.wustl.edu GRCh37 X 154754255 154754255 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334398.3:c.220G>A p.Val74Ile p.V74I ENST00000334398 NM_018196.3 74 Gtc/Atc 0 Missense_Mutation C 19 TMLHE SNP 23 T T 154407449 154407449 WashU SLITRK3 22865 genome.wustl.edu GRCh37 3 164906265 164906265 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000475390.1:c.2354C>T p.Pro785Leu p.P785L ENST00000475390 785 cCg/cTg 0 Missense_Mutation G 39 SLITRK3 SNP 3 G A 166388959 166388959 WashU PDE11A 50940 genome.wustl.edu GRCh37 2 178879078 178879078 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286063.6:c.1022C>T p.Ala341Val p.A341V ENST00000286063 NM_016953.3 341 gCg/gTg 0 Missense_Mutation G 38 PDE11A SNP 2 G A 178587324 178587324 WashU TTN 7273 genome.wustl.edu GRCh37 2 179395650 179395650 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.105692C>T p.Pro35231Leu p.P35231L ENST00000589042 NM_001267550.1 35231 cCa/cTa 0 Missense_Mutation G 47 TTN SNP 2 G A 179103896 179103896 WashU TTN 7273 genome.wustl.edu GRCh37 2 179615844 179615844 + intron_variant Intron SNP C C T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.11311+2007G>A *3771* ENST00000589042 NM_001267550.1 0 Silent C 24 TTN SNP 2 C T 179324089 179324089 WashU COL3A1 1281 genome.wustl.edu GRCh37 2 189856241 189856241 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304636.3:c.881G>A p.Gly294Glu p.G294E ENST00000304636 NM_000090.3 294 gGa/gAa 0 Missense_Mutation G 41 COL3A1 SNP 2 G A 189564486 189564486 WashU LHX9 56956 genome.wustl.edu GRCh37 1 197887071 197887071 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367387.4:c.118A>G p.Arg40Gly p.R40G ENST00000367387 NM_020204.2 40 Aga/Gga 0 Missense_Mutation A 7 LHX9 SNP 1 A G 196153694 196153694 WashU ESRRG 2104 genome.wustl.edu GRCh37 1 216850648 216850648 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366937.1:c.257C>T p.Ser86Leu p.S86L ENST00000366937 NM_001243518.1 86 tCg/tTg 0 Missense_Mutation G 37 ESRRG SNP 1 G A 214917271 214917271 WashU NYAP2 57624 genome.wustl.edu GRCh37 2 226273703 226273703 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272907.6:c.107T>C p.Ile36Thr p.I36T ENST00000272907 NM_020864.1 36 aTt/aCt 0 Missense_Mutation T 52 KIAA1486 SNP 2 T C 225981947 225981947 WashU NLRP3 114548 genome.wustl.edu GRCh37 1 247587724 247587724 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336119.3:c.979C>G p.Arg327Gly p.R327G ENST00000336119 NM_001127462.2 327 Cgg/Ggg 0 Missense_Mutation C 27 NLRP3 SNP 1 C G 245654347 245654347 WashU TCERG1L 256536 genome.wustl.edu GRCh37 10 132932675 132932675 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368642.4:c.1226G>C p.Arg409Thr p.R409T ENST00000368642 NM_174937.3 409 aGg/aCg 0 Missense_Mutation C 24 TCERG1L SNP 10 C G 132822665 132822665 WashU DAGLA 747 genome.wustl.edu GRCh37 11 61508800 61508800 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257215.5:c.2150A>C p.Asp717Ala p.D717A ENST00000257215 NM_006133.2 717 gAc/gCc 0 Missense_Mutation A 10 DAGLA SNP 11 A C 61265376 61265376 WashU ATP5EP2 432369 genome.wustl.edu GRCh37 13 28519532 28519532 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381026.3:c.136G>T p.Val46Leu p.V46L ENST00000381026 46 Gtg/Ttg 0 Missense_Mutation G 48 ATP5EP2 SNP 13 G T 27417532 27417532 WashU NOD2 64127 genome.wustl.edu GRCh37 16 50745533 50745533 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300589.2:c.1711C>T p.Gln571Ter p.Q571* ENST00000300589 NM_022162.1 571 Cag/Tag 0 Nonsense_Mutation C 21 NOD2 SNP 16 C T 49303034 49303034 WashU MBD1 4152 genome.wustl.edu GRCh37 18 47800169 47800169 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000590208.1:c.1211G>A p.Arg404His p.R404H ENST00000590208 NM_001204136.1 404 cGt/cAt 0 Missense_Mutation C 19 MBD1 SNP 18 C T 46054167 46054167 WashU SHOX2 6474 genome.wustl.edu GRCh37 3 157820642 157820642 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389589.4:c.452C>T p.Ala151Val p.A151V ENST00000389589 NM_003030.4 151 gCg/gTg 0 Missense_Mutation G 38 SHOX2 SNP 3 G A 159303336 159303336 WashU DRD1 1812 genome.wustl.edu GRCh37 5 174869877 174869877 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393752.2:c.226C>A p.Leu76Met p.L76M ENST00000393752 NM_000794.3 76 Ctg/Atg 0 Missense_Mutation G 35 DRD1 SNP 5 G T 174802483 174802483 WashU DLL1 28514 genome.wustl.edu GRCh37 6 170597385 170597385 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366756.3:c.612T>C p.Cys204= p.C204= ENST00000366756 NM_005618.3 204 tgT/tgC 0 Silent A 6 DLL1 SNP 6 A G 170439310 170439310 WashU PDIA4 9601 genome.wustl.edu GRCh37 7 148701101 148701101 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1542-01 TCGA-04-1542-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286091.4:c.1723C>G p.Gln575Glu p.Q575E ENST00000286091 NM_004911.4 575 Caa/Gaa 0 Missense_Mutation G 47 PDIA4 SNP 7 G C 148332034 148332034 WashU ASNA1 439 genome.wustl.edu GRCh37 19 12856529 12856529 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-04-1542-01 TCGA-04-1542-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000591090.1:c.565C>T p.Arg189Trp p.R189W ENST00000591090 189 Cgg/Tgg 0 Missense_Mutation C 23 ASNA1 SNP 19 C T 12717529 12717529 WashU TRIM21 6737 genome.wustl.edu GRCh37 11 4409691 4409691 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000254436.7:c.574G>C p.Glu192Gln p.E192Q ENST00000254436 NM_003141.3 192 Gaa/Caa 0 Missense_Mutation C 32 TRIM21 SNP 11 C G 4366267 4366267 WashU PLGRKT 55848 genome.wustl.edu GRCh37 9 5361832 5361832 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000223864.2:c.138G>C p.Gln46His p.Q46H ENST00000223864 NM_018465.3 46 caG/caC 0 Missense_Mutation C 32 C9orf46 SNP 9 C G 5351832 5351832 WashU UBQLN3 50613 genome.wustl.edu GRCh37 11 5530137 5530137 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000311659.4:c.652C>T p.Arg218Trp p.R218W ENST00000311659 NM_017481.2 218 Cgg/Tgg 0 Missense_Mutation G 38 UBQLN3 SNP 11 G A 5486713 5486713 WashU ZNF12 7559 genome.wustl.edu GRCh37 7 6736969 6736969 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000405858.1:c.238+1G>T p.X80_splice ENST00000405858 NM_016265.3 0 Splice_Site_SNP C 18 ZNF12 SNP 7 C A 6703494 6703494 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577547 7577547 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.734G>A p.Gly245Asp p.G245D ENST00000269305 NM_001126112.2 245 gGc/gAc 0 Missense_Mutation C 26 TP53 SNP 17 C T 7518272 7518272 WashU MYH13 8735 genome.wustl.edu GRCh37 17 10267759 10267759 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000418404.3:c.89G>C p.Arg30Pro p.R30P ENST00000418404 30 cGt/cCt 0 Missense_Mutation C 19 MYH13 SNP 17 C G 10208484 10208484 WashU MPDZ 8777 genome.wustl.edu GRCh37 9 13119558 13119558 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000541718.1:c.5322G>C p.Met1774Ile p.M1774I ENST00000541718 NM_001261407.1 1774 atG/atC 0 Missense_Mutation C 21 MPDZ SNP 9 C G 13109558 13109558 WashU PARP2 10038 genome.wustl.edu GRCh37 14 20820412 20820412 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000250416.5:c.545A>C p.Asp182Ala p.D182A ENST00000250416 NM_005484.3 182 gAc/gCc 0 Missense_Mutation A 10 PARP2 SNP 14 A C 19890252 19890252 WashU APOB 338 genome.wustl.edu GRCh37 2 21260035 21260035 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000233242.1:c.630G>C p.Gly210= p.G210= ENST00000233242 NM_000384.2 210 ggG/ggC 0 Silent C 26 APOB SNP 2 C G 21113540 21113540 WashU C10orf113 10529 genome.wustl.edu GRCh37 10 21414974 21414974 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000534331.1:c.246A>T p.Gln82His p.Q82H ENST00000534331 NM_001010896.2 82 caA/caT 0 Missense_Mutation T 64 C10orf113 SNP 10 T A 21454980 21454980 WashU ATXN2L 11273 genome.wustl.edu GRCh37 16 28845928 28845928 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395547.2:c.2347C>G p.Pro783Ala p.P783A ENST00000395547 NM_148414.2 783 Ccc/Gcc 0 Missense_Mutation C 26 ATXN2L SNP 16 C G 28753429 28753429 WashU SYNGAP1 8831 genome.wustl.edu GRCh37 6 33411592 33411592 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000418600.2:c.3263G>T p.Ser1088Ile p.S1088I ENST00000418600 NM_006772.2 1088 aGc/aTc 0 Missense_Mutation G 34 SYNGAP1 SNP 6 G T 33519570 33519570 WashU CUL2 8453 genome.wustl.edu GRCh37 10 35328011 35328011 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000537177.1:c.772-1G>A p.X258_splice ENST00000537177 NM_001198779.1 0 Splice_Site_SNP C 24 CUL2 SNP 10 C T 35368017 35368017 WashU TESK1 7016 genome.wustl.edu GRCh37 9 35606922 35606922 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336395.5:c.479C>G p.Ala160Gly p.A160G ENST00000336395 NM_006285.2 160 gCc/gGc 0 Missense_Mutation C 26 TESK1 SNP 9 C G 35596922 35596922 WashU TSHZ3 57616 genome.wustl.edu GRCh37 19 31768044 31768044 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000240587.4:c.2655G>A p.Ser885= p.S885= ENST00000240587 NM_020856.2 885 tcG/tcA 0 Silent C 31 TSHZ3 SNP 19 C T 36459884 36459884 WashU ANKRD30A 91074 genome.wustl.edu GRCh37 10 37430803 37430803 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361713.1:c.810T>G p.Asp270Glu p.D270E ENST00000361713 NM_052997.2 270 gaT/gaG 0 Missense_Mutation T 51 ANKRD30A SNP 10 T G 37470809 37470809 WashU FREM2 341640 genome.wustl.edu GRCh37 13 39264383 39264383 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000280481.7:c.2902G>A p.Val968Ile p.V968I ENST00000280481 NM_207361.4 968 Gtt/Att 0 Missense_Mutation G 48 FREM2 SNP 13 G A 38162383 38162383 WashU SOS1 6654 genome.wustl.edu GRCh37 2 39213416 39213416 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000402219.2:c.3551C>A p.Pro1184His p.P1184H ENST00000402219 NM_005633.3 1184 cCt/cAt 0 Missense_Mutation G 35 SOS1 SNP 2 G T 39066920 39066920 WashU C7 730 genome.wustl.edu GRCh37 5 40976934 40976934 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000313164.9:c.2157C>T p.Tyr719= p.Y719= ENST00000313164 NM_000587.2 719 taC/taT 0 Silent C 19 C7 SNP 5 C T 41012691 41012691 WashU GLI3 2737 genome.wustl.edu GRCh37 7 42012031 42012031 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000395925.3:c.2008C>G p.Gln670Glu p.Q670E ENST00000395925 NM_000168.5 670 Cag/Gag 0 Missense_Mutation G 45 GLI3 SNP 7 G C 41978556 41978556 WashU FAM183A 440585 genome.wustl.edu GRCh37 1 43618548 43618548 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335282.4:c.243G>T p.Lys81Asn p.K81N ENST00000335282 NM_001101376.2 81 aaG/aaT 0 Missense_Mutation G 36 FAM183A SNP 1 G T 43391135 43391135 WashU KRTAP10-11 386678 genome.wustl.edu GRCh37 21 46066871 46066871 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334670.8:c.496T>C p.Ser166Pro p.S166P ENST00000334670 NM_198692.2 166 Tct/Cct 0 Missense_Mutation T 54 KRTAP10-11 SNP 21 T C 44891299 44891299 WashU SETD2 29072 genome.wustl.edu GRCh37 3 47142987 47142987 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409792.3:c.4976G>T p.Gly1659Val p.G1659V ENST00000409792 NM_014159.6 1659 gGc/gTc 0 Missense_Mutation C 26 SETD2 SNP 3 C A 47117991 47117991 WashU SLC5A9 200010 genome.wustl.edu GRCh37 1 48697697 48697697 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000236495.5:c.846C>A p.Thr282= p.T282= ENST00000236495 NM_001135181.1 282 acC/acA 0 Silent C 21 SLC5A9 SNP 1 C A 48470284 48470284 WashU FAM21A 387680 genome.wustl.edu GRCh37 10 51859751 51859751 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000282633.5:c.1562C>A p.Ser521Tyr p.S521Y ENST00000282633 NM_001005751.1 521 tCc/tAc 0 Missense_Mutation C 30 FAM21A SNP 10 C A 51529757 51529757 WashU BCAS1 8537 genome.wustl.edu GRCh37 20 52612476 52612476 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395961.3:c.837T>C p.Ala279= p.A279= ENST00000395961 NM_003657.2 279 gcT/gcC 0 Silent A 15 BCAS1 SNP 20 A G 52045883 52045883 WashU SPTBN1 6711 genome.wustl.edu GRCh37 2 54858068 54858068 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356805.4:c.2884C>T p.Leu962Phe p.L962F ENST00000356805 NM_003128.2 962 Ctc/Ttc 0 Missense_Mutation C 24 SPTBN1 SNP 2 C T 54711572 54711572 WashU ZNF280D 54816 genome.wustl.edu GRCh37 15 56970892 56970892 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000267807.7:c.1132G>A p.Glu378Lys p.E378K ENST00000267807 NM_017661.2 378 Gaa/Aaa 0 Missense_Mutation C 31 ZNF280D SNP 15 C T 54758184 54758184 WashU TIMELESS 8914 genome.wustl.edu GRCh37 12 56827333 56827333 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000553532.1:c.355G>C p.Ala119Pro p.A119P ENST00000553532 119 Gcc/Ccc 0 Missense_Mutation C 26 TIMELESS SNP 12 C G 55113600 55113600 WashU DST 667 genome.wustl.edu GRCh37 6 56499680 56499680 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244364.6:c.1647T>A p.Ile549= p.I549= ENST00000244364 NM_015548.4 549 atT/atA 0 Silent A 9 DST SNP 6 A T 56607639 56607639 WashU NLRP12 91662 genome.wustl.edu GRCh37 19 54313398 54313398 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324134.6:c.1515C>T p.Asn505= p.N505= ENST00000324134 NM_144687.3 505 aaC/aaT 0 Silent G 36 NLRP12 SNP 19 G A 59005210 59005210 WashU VPS13C 54832 genome.wustl.edu GRCh37 15 62261606 62261606 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261517.5:c.2803C>G p.Leu935Val p.L935V ENST00000261517 NM_020821.2 935 Cta/Gta 0 Missense_Mutation G 33 VPS13C SNP 15 G C 60048898 60048898 WashU PRKCA 5578 genome.wustl.edu GRCh37 17 64641582 64641582 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000413366.3:c.482G>A p.Arg161Gln p.R161Q ENST00000413366 NM_002737.2 161 cGg/cAg 0 Missense_Mutation G 39 PRKCA SNP 17 A A 62072044 62072044 WashU ZNF549 256051 genome.wustl.edu GRCh37 19 58049370 58049370 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376233.3:c.998T>A p.Val333Glu p.V333E ENST00000376233 NM_001199295.1 333 gTg/gAg 0 Missense_Mutation T 59 ZNF549 SNP 19 T A 62741182 62741182 WashU CCDC102B 79839 genome.wustl.edu GRCh37 18 66678183 66678183 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360242.5:c.1276C>T p.Leu426Phe p.L426F ENST00000360242 NM_024781.2 426 Ctt/Ttt 0 Missense_Mutation C 24 CCDC102B SNP 18 C T 64829163 64829163 WashU BAZ1B 9031 genome.wustl.edu GRCh37 7 72877403 72877403 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339594.4:c.3098A>G p.His1033Arg p.H1033R ENST00000339594 NM_032408.3 1033 cAt/cGt 0 Missense_Mutation T 51 BAZ1B SNP 7 T C 72515339 72515339 WashU MTHFD2L 441024 genome.wustl.edu GRCh37 4 75040333 75040333 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000395759.2:c.254G>T p.Ser85Ile p.S85I ENST00000395759 NM_001144978.1 85 aGt/aTt 0 Missense_Mutation G 36 MTHFD2L SNP 4 G T 75259197 75259197 WashU NARS2 79731 genome.wustl.edu GRCh37 11 78277280 78277280 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000281038.5:c.411G>C p.Glu137Asp p.E137D ENST00000281038 NM_001243251.1 137 gaG/gaC 0 Missense_Mutation C 20 NARS2 SNP 11 C G 77954928 77954928 WashU PCSK5 5125 genome.wustl.edu GRCh37 9 78804077 78804077 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000545128.1:c.2448G>T p.Gln816His p.Q816H ENST00000545128 NM_001190482.1 816 caG/caT 0 Missense_Mutation G 33 PCSK5 SNP 9 G T 77993897 77993897 WashU ADAMTSL3 57188 genome.wustl.edu GRCh37 15 84488784 84488784 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000286744.5:c.585C>G p.Ile195Met p.I195M ENST00000286744 NM_207517.2 195 atC/atG 0 Missense_Mutation C 29 ADAMTSL3 SNP 15 C G 82279788 82279788 WashU SEMA3D 223117 genome.wustl.edu GRCh37 7 84651726 84651726 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000284136.6:c.1395T>C p.Asp465= p.D465= ENST00000284136 NM_152754.2 465 gaT/gaC 0 Silent A 8 SEMA3D SNP 7 A G 84489662 84489662 WashU COL11A1 1301 genome.wustl.edu GRCh37 1 103491420 103491420 + intron_variant Intron SNP T T A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370096.3:c.898-251A>T *300* ENST00000370096 NM_001854.3 0 Missense_Mutation T 62 COL11A1 SNP 1 T A 103264008 103264008 WashU RNF20 56254 genome.wustl.edu GRCh37 9 104313974 104313974 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000389120.3:c.1281G>C p.Glu427Asp p.E427D ENST00000389120 NM_019592.6 427 gaG/gaC 0 Missense_Mutation G 35 RNF20 SNP 9 G C 103353795 103353795 WashU AHNAK2 113146 genome.wustl.edu GRCh37 14 105420201 105420201 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000333244.5:c.1587T>G p.Gly529= p.G529= ENST00000333244 NM_138420.2 529 ggT/ggG 0 Silent A 6 AHNAK2 SNP 14 A C 104491246 104491246 WashU IGHG2 3501 genome.wustl.edu GRCh37 14 106109723 106109723 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000390545.2:c.798G>T p.Pro266= p.P266= ENST00000390545 266 ccG/ccT 0 Nonsense_Mutation C 23 IGHG2 SNP 14 C A 105180768 105180768 WashU IGHV1-46 genome.wustl.edu GRCh37 14 106967143 106967143 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000390622.2:c.257G>A p.Arg86Lys p.R86K ENST00000390622 86 aGa/aAa 0 Missense_Mutation C 32 ENSG00000211962 SNP 14 C T 106038188 106038188 WashU ST6GAL2 84620 genome.wustl.edu GRCh37 2 107460242 107460242 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409382.3:c.192C>T p.Ala64= p.A64= ENST00000409382 NM_001142351.1 64 gcC/gcT 0 Silent G 39 ST6GAL2 SNP 2 G A 106826674 106826674 WashU ARPC3 10094 genome.wustl.edu GRCh37 12 110878193 110878193 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000228825.7:c.107C>A p.Thr36Lys p.T36K ENST00000228825 NM_005719.2 36 aCa/aAa 0 Missense_Mutation G 46 ARPC3 SNP 12 G T 109362576 109362576 WashU TMEM74 157753 genome.wustl.edu GRCh37 8 109796471 109796471 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000297459.3:c.857C>A p.Thr286Lys p.T286K ENST00000297459 NM_153015.1 286 aCg/aAg 0 Missense_Mutation G 40 TMEM74 SNP 8 G T 109865647 109865647 WashU SLC16A4 9122 genome.wustl.edu GRCh37 1 110924345 110924345 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369779.4:c.293C>T p.Thr98Ile p.T98I ENST00000369779 NM_001201547.1 98 aCt/aTt 0 Missense_Mutation G 36 SLC16A4 SNP 1 G A 110725868 110725868 WashU ZCCHC16 340595 genome.wustl.edu GRCh37 X 111698393 111698393 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340433.2:c.437C>T p.Pro146Leu p.P146L ENST00000340433 NM_001004308.2 146 cCt/cTt 0 Missense_Mutation C 24 ZCCHC16 SNP 23 C T 111585049 111585049 WashU C1orf162 128346 genome.wustl.edu GRCh37 1 112020639 112020639 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343534.5:c.362C>T p.Ala121Val p.A121V ENST00000343534 NM_174896.2 121 gCc/gTc 0 Missense_Mutation C 26 C1orf162 SNP 1 C T 111822162 111822162 WashU ANAPC1 64682 genome.wustl.edu GRCh37 2 112529959 112529959 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000341068.3:c.5678C>G p.Ser1893Cys p.S1893C ENST00000341068 NM_022662.3 1893 tCt/tGt 0 Missense_Mutation G 33 ANAPC1 SNP 2 G C 112246430 112246430 WashU COL14A1 7373 genome.wustl.edu GRCh37 8 121237330 121237330 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297848.3:c.1741G>T p.Glu581Ter p.E581* ENST00000297848 NM_021110.2 581 Gaa/Taa 0 Nonsense_Mutation G 45 COL14A1 SNP 8 G T 121306511 121306511 WashU OR8B3 390271 genome.wustl.edu GRCh37 11 124266883 124266883 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354597.3:c.365G>A p.Arg122His p.R122H ENST00000354597 NM_001005467.1 122 cGc/cAc 0 Missense_Mutation C 27 OR8B3 SNP 11 C T 123772093 123772093 WashU OR1L6 392390 genome.wustl.edu GRCh37 9 125512888 125512888 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000304720.2:c.762G>A p.Gly254= p.G254= ENST00000304720 NM_001004453.2 254 ggG/ggA 0 Silent G 41 OR1L6 SNP 9 G A 124552709 124552709 WashU FER1L6 654463 genome.wustl.edu GRCh37 8 124989778 124989778 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000522917.1:c.992T>G p.Met331Arg p.M331R ENST00000522917 NM_001039112.2 331 aTg/aGg 0 Missense_Mutation T 51 FER1L6 SNP 8 T G 125058959 125058959 WashU NTM 50863 genome.wustl.edu GRCh37 11 132184608 132184608 + intron_variant Intron SNP G G T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000425719.2:c.934+11G>T *312* ENST00000425719 0 Silent G 46 NTM SNP 11 G T 131689818 131689818 WashU ANKHD1 54882 genome.wustl.edu GRCh37 5 139917093 139917093 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297183.6:c.7147G>A p.Ala2383Thr p.A2383T ENST00000297183 NM_020690.5 2383 Gca/Aca 0 Missense_Mutation G 46 ANKHD1-EIF4EBP3 SNP 5 G A 139897277 139897277 WashU OR6V1 346517 genome.wustl.edu GRCh37 7 142750168 142750168 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000418316.1:c.731C>A p.Thr244Lys p.T244K ENST00000418316 NM_001001667.1 244 aCa/aAa 0 Missense_Mutation C 17 OR6V1 SNP 7 C A 142460290 142460290 WashU CYP11B1 1584 genome.wustl.edu GRCh37 8 143961072 143961072 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000292427.4:c.158T>A p.Leu53Gln p.L53Q ENST00000292427 NM_000497.3 53 cTg/cAg 0 Missense_Mutation A 7 CYP11B1 SNP 8 A T 143958074 143958074 WashU P2RY13 53829 genome.wustl.edu GRCh37 3 151045909 151045909 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000325602.5:c.935T>C p.Met312Thr p.M312T ENST00000325602 NM_176894.2 312 aTg/aCg 0 Missense_Mutation A 8 P2RY13 SNP 3 A G 152528599 152528599 WashU MED12L 116931 genome.wustl.edu GRCh37 3 151105747 151105747 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000474524.1:c.5133G>A p.Leu1711= p.L1711= ENST00000474524 NM_053002.4 1711 ctG/ctA 0 Silent G 48 MED12L SNP 3 G A 152588437 152588437 WashU SMG5 23381 genome.wustl.edu GRCh37 1 156233315 156233315 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361813.5:c.1902C>T p.Arg634= p.R634= ENST00000361813 NM_015327.2 634 cgC/cgT 0 Silent G 34 SMG5 SNP 1 G A 154499939 154499939 WashU CNKSR3 154043 genome.wustl.edu GRCh37 6 154743698 154743698 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000607772.1:c.887C>A p.Ser296Tyr p.S296Y ENST00000607772 NM_173515.2 296 tCt/tAt 0 Missense_Mutation G 33 CNKSR3 SNP 6 G T 154785390 154785390 WashU RGS4 5999 genome.wustl.edu GRCh37 1 163043354 163043354 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000421743.2:c.611T>A p.Leu204Gln p.L204Q ENST00000421743 NM_001102445.2 204 cTa/cAa 0 Missense_Mutation T 53 RGS4 SNP 1 T A 161309978 161309978 WashU RCSD1 92241 genome.wustl.edu GRCh37 1 167659343 167659343 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367854.3:c.256A>T p.Ile86Phe p.I86F ENST00000367854 NM_052862.3 86 Att/Ttt 0 Missense_Mutation A 12 RCSD1 SNP 1 A T 165925967 165925967 WashU XIRP2 129446 genome.wustl.edu GRCh37 2 168107681 168107681 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409195.1:c.9779A>G p.Glu3260Gly p.E3260G ENST00000409195 NM_152381.5 3260 gAg/gGg 0 Missense_Mutation A 11 XIRP2 SNP 2 A G 167815927 167815927 WashU RC3H1 149041 genome.wustl.edu GRCh37 1 173953671 173953671 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367696.2:c.318A>G p.Leu106= p.L106= ENST00000367696 106 ttA/ttG 0 Silent T 53 RC3H1 SNP 1 T C 172220294 172220294 WashU HRH2 3274 genome.wustl.edu GRCh37 5 175110476 175110476 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000377291.2:c.240G>C p.Leu80= p.L80= ENST00000377291 NM_001131055.1 80 ctG/ctC 0 Silent G 48 HRH2 SNP 5 G C 175043082 175043082 WashU CHN1 1123 genome.wustl.edu GRCh37 2 175779838 175779838 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409900.3:c.208T>A p.Tyr70Asn p.Y70N ENST00000409900 NM_001822.5 70 Tac/Aac 0 Missense_Mutation A 15 CHN1 SNP 2 A T 175488084 175488084 WashU UIMC1 51720 genome.wustl.edu GRCh37 5 176409537 176409537 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000377227.4:c.80C>A p.Ser27Tyr p.S27Y ENST00000377227 27 tCt/tAt 0 Missense_Mutation G 33 UIMC1 SNP 5 G T 176342143 176342143 WashU TTN 7273 genome.wustl.edu GRCh37 2 179440589 179440589 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.70270A>G p.Lys23424Glu p.K23424E ENST00000589042 NM_001267550.1 23424 Aaa/Gaa 0 Missense_Mutation T 62 TTN SNP 2 T C 179148835 179148835 WashU NEUROD1 4760 genome.wustl.edu GRCh37 2 182543473 182543473 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295108.3:c.115A>T p.Lys39Ter p.K39* ENST00000295108 NM_002500.4 39 Aag/Tag 0 Nonsense_Mutation T 62 NEUROD1 SNP 2 T A 182251718 182251718 WashU DUSP19 142679 genome.wustl.edu GRCh37 2 183948278 183948278 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354221.4:c.269A>G p.Asn90Ser p.N90S ENST00000354221 NM_080876.3 90 aAt/aGt 0 Missense_Mutation A 4 DUSP19 SNP 2 A G 183656523 183656523 WashU FAM126B 285172 genome.wustl.edu GRCh37 2 201846547 201846547 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000418596.3:c.1039G>T p.Ala347Ser p.A347S ENST00000418596 NM_173822.3 347 Gca/Tca 0 Missense_Mutation C 25 FAM126B SNP 2 C A 201554792 201554792 WashU RYR2 6262 genome.wustl.edu GRCh37 1 237863644 237863644 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366574.2:c.9244C>A p.His3082Asn p.H3082N ENST00000366574 NM_001035.2 3082 Cac/Aac 0 Missense_Mutation C 29 RYR2 SNP 1 C A 235930267 235930267 WashU C16orf45 89927 genome.wustl.edu GRCh37 16 15609245 15609255 + frameshift_variant Frame_Shift_Del DEL CGGGAAGTCTT CGGGAAGTCTT - novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 CGGGAAGTCTT CGGGAAGTCTT CGGGAAGTCTT - CGGGAAGTCTT CGGGAAGTCTT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300006.4:c.190_200del p.Arg64GlyfsTer6 p.R64Gfs*6 ENST00000300006 NM_033201.2 64 CGGGAAGTCTTg/g 0 Frame_Shift_Del CGGGAAGTCTT 23 C16orf45 DEL 16 CGGGAAGTCTT - 15516756 15516746 WashU KIAA0195 9772 genome.wustl.edu GRCh37 17 73486828 73486828 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314256.7:c.1117G>A p.Val373Ile p.V373I ENST00000314256 NM_014738.4 373 Gtc/Atc 0 Missense_Mutation G 48 KIAA0195 SNP 17 G A 70998423 70998423 WashU MED26 9441 genome.wustl.edu GRCh37 19 16687873 16687873 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263390.3:c.768G>T p.Val256= p.V256= ENST00000263390 NM_004831.3 256 gtG/gtT 0 Silent C 21 MED26 SNP 19 C A 16548873 16548873 WashU TGM6 343641 genome.wustl.edu GRCh37 20 2397927 2397927 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000202625.2:c.1386C>T p.Phe462= p.F462= ENST00000202625 NM_198994.2 462 ttC/ttT 0 Silent C 31 TGM6 SNP 20 C T 2345927 2345927 WashU FOXS1 2307 genome.wustl.edu GRCh37 20 30432788 30432788 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375978.3:c.558T>A p.Pro186= p.P186= ENST00000375978 NM_004118.3 186 ccT/ccA 0 Silent A 11 FOXS1 SNP 20 A T 29896449 29896449 WashU WDR48 57599 genome.wustl.edu GRCh37 3 39093555 39093555 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0893-01 TCGA-13-0893-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302313.5:c.39G>A p.Arg13= p.R13= ENST00000302313 NM_020839.2 13 agG/agA 0 Silent G 41 WDR48 SNP 3 A A 39068559 39068559 WashU CAPZB 832 broad.mit.edu GRCh37 1 19746216 19746216 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000375142.1:c.32A>T p.Asp11Val p.D11V ENST00000375142 NM_001206540.1 11 gAc/gTc 0 Missense_Mutation T 58 CAPZB SNP 1 T A 19618803 19618803 Broad NT5C1A 84618 broad.mit.edu GRCh37 1 40126874 40126874 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000235628.1:c.618G>A p.Leu206= p.L206= ENST00000235628 NM_032526.1 206 ctG/ctA 0 Silent C 25 NT5C1A SNP 1 C T 39899461 39899461 Broad C1orf194 127003 broad.mit.edu GRCh37 1 109650546 109650546 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000369949.4:c.159C>T p.Pro53= p.P53= ENST00000369949 NM_001122961.1 53 ccC/ccT 0 Silent G 39 C1orf194 SNP 1 G A 109452069 109452069 Broad SPAG17 200162 broad.mit.edu GRCh37 1 118624223 118624223 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000336338.5:c.1805T>G p.Phe602Cys p.F602C ENST00000336338 NM_206996.2 602 tTt/tGt 0 Missense_Mutation A 1 SPAG17 SNP 1 A C 118425746 118425746 Broad ARHGEF11 9826 broad.mit.edu GRCh37 1 156918111 156918111 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000368194.3:c.2105G>C p.Arg702Thr p.R702T ENST00000368194 NM_198236.2 702 aGg/aCg 0 Missense_Mutation C 24 ARHGEF11 SNP 1 C G 155184735 155184735 Broad POU2F1 5451 broad.mit.edu GRCh37 1 167343397 167343397 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000367866.2:c.455A>T p.Gln152Leu p.Q152L ENST00000367866 NM_002697.3 152 cAg/cTg 0 Missense_Mutation A 7 POU2F1 SNP 1 A T 165610021 165610021 Broad CAMSAP2 23271 broad.mit.edu GRCh37 1 200819245 200819245 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000358823.2:c.3348C>A p.Ser1116= p.S1116= ENST00000358823 NM_203459.1 1116 tcC/tcA 0 Silent C 22 CAMSAP1L1 SNP 1 C A 199085868 199085868 Broad CRTAC1 55118 broad.mit.edu GRCh37 10 99661322 99661322 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000370597.3:c.1071G>A p.Gln357= p.Q357= ENST00000370597 NM_018058.6 357 caG/caA 0 Silent C 24 CRTAC1 SNP 10 C T 99651312 99651312 Broad MCMBP 79892 broad.mit.edu GRCh37 10 121612689 121612689 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000360003.3:c.447C>G p.Asn149Lys p.N149K ENST00000360003 NM_001256378.1 149 aaC/aaG 0 Missense_Mutation G 44 C10orf119 SNP 10 G C 121602679 121602679 Broad CHID1 66005 broad.mit.edu GRCh37 11 900012 900012 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000454838.2:c.613G>C p.Val205Leu p.V205L ENST00000454838 NM_001142676.1 205 Gtg/Ctg 0 Missense_Mutation C 18 CHID1 SNP 11 C G 890012 890012 Broad C11orf42 160298 broad.mit.edu GRCh37 11 6232258 6232258 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000316375.2:c.988G>A p.Asp330Asn p.D330N ENST00000316375 NM_173525.2 330 Gac/Aac 0 Missense_Mutation G 37 C11orf42 SNP 11 G A 6188834 6188834 Broad OR5D16 390144 broad.mit.edu GRCh37 11 55606964 55606964 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000378396.1:c.737A>T p.His246Leu p.H246L ENST00000378396 NM_001005496.1 246 cAc/cTc 0 Missense_Mutation A 6 OR5D16 SNP 11 A T 55363540 55363540 Broad OR5A1 219982 broad.mit.edu GRCh37 11 59211280 59211280 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000302030.2:c.639G>A p.Ser213= p.S213= ENST00000302030 NM_001004728.1 213 tcG/tcA 0 Silent G 40 OR5A1 SNP 11 G A 58967856 58967856 Broad VWCE 220001 broad.mit.edu GRCh37 11 61036471 61036471 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000335613.5:c.1805G>A p.Cys602Tyr p.C602Y ENST00000335613 NM_152718.2 602 tGc/tAc 0 Missense_Mutation C 25 VWCE SNP 11 C T 60793047 60793047 Broad DYNC2H1 79659 broad.mit.edu GRCh37 11 103339318 103339318 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000398093.3:c.12671T>A p.Ile4224Asn p.I4224N ENST00000398093 4224 aTc/aAc 0 Missense_Mutation T 50 DYNC2H1 SNP 11 T A 102844528 102844528 Broad TAOK3 51347 broad.mit.edu GRCh37 12 118636982 118636982 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000392533.3:c.1068C>A p.Ser356Arg p.S356R ENST00000392533 NM_016281.3 356 agC/agA 0 Missense_Mutation G 46 TAOK3 SNP 12 G T 117121365 117121365 Broad MNAT1 4331 broad.mit.edu GRCh37 14 61278795 61278795 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000261245.4:c.511C>G p.Leu171Val p.L171V ENST00000261245 NM_002431.3 171 Ctg/Gtg 0 Missense_Mutation C 20 MNAT1 SNP 14 C G 60348548 60348548 Broad C15orf41 84529 broad.mit.edu GRCh37 15 36872070 36872070 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000566621.1:c.9G>C p.Leu3= p.L3= ENST00000566621 NM_001130010.1 3 ctG/ctC 0 Silent G 45 C15orf41 SNP 15 G C 34659362 34659362 Broad EIF2AK4 440275 broad.mit.edu GRCh37 15 40282563 40282563 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000263791.5:c.2616C>A p.Asp872Glu p.D872E ENST00000263791 NM_001013703.2 872 gaC/gaA 0 Missense_Mutation C 18 EIF2AK4 SNP 15 C A 38069855 38069855 Broad TBC1D21 161514 broad.mit.edu GRCh37 15 74180790 74180790 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000300504.2:c.914A>T p.Asp305Val p.D305V ENST00000300504 NM_153356.1 305 gAc/gTc 0 Missense_Mutation A 10 TBC1D21 SNP 15 A T 71967843 71967843 Broad SIN3A 25942 broad.mit.edu GRCh37 15 75715060 75715060 + synonymous_variant Silent SNP C C G novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000394947.3:c.294G>C p.Val98= p.V98= ENST00000394947 NM_001145358.1 98 gtG/gtC 0 Silent C 21 SIN3A SNP 15 C G 73502113 73502113 Broad IRF8 3394 broad.mit.edu GRCh37 16 85936730 85936730 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000268638.5:c.109C>T p.Arg37Trp p.R37W ENST00000268638 NM_002163.2 37 Cgg/Tgg 0 Missense_Mutation C 23 IRF8 SNP 16 C T 84494231 84494231 Broad ANKRD11 29123 broad.mit.edu GRCh37 16 89350055 89350055 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000301030.4:c.2895G>A p.Arg965= p.R965= ENST00000301030 NM_001256183.1 965 agG/agA 0 Silent C 22 ANKRD11 SNP 16 C T 87877556 87877556 Broad ANKFY1 51479 broad.mit.edu GRCh37 17 4113234 4113234 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000570535.1:c.593A>T p.Lys198Met p.K198M ENST00000570535 NM_001257999.1 198 aAg/aTg 0 Missense_Mutation T 56 ANKFY1 SNP 17 T A 4059983 4059983 Broad TP53 7157 broad.mit.edu GRCh37 17 7578443 7578443 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.487T>A p.Tyr163Asn p.Y163N ENST00000269305 NM_001126112.2 163 Tac/Aac 0 Missense_Mutation A 15 TP53 SNP 17 A T 7519168 7519168 Broad GLP2R 9340 broad.mit.edu GRCh37 17 9760756 9760756 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000262441.5:c.628C>T p.Arg210Cys p.R210C ENST00000262441 NM_004246.1 210 Cgc/Tgc 0 Missense_Mutation C 27 GLP2R SNP 17 C T 9701481 9701481 Broad DNAH17 8632 broad.mit.edu GRCh37 17 76511006 76511006 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000389840.5:c.3951G>T p.Arg1317Ser p.R1317S ENST00000389840 1317 agG/agT 0 Missense_Mutation C 18 DNAH17 SNP 17 C A 74022601 74022601 Broad FHOD3 80206 broad.mit.edu GRCh37 18 34298398 34298398 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000257209.4:c.2612C>G p.Pro871Arg p.P871R ENST00000257209 NM_025135.2 871 cCc/cGc 0 Missense_Mutation C 22 FHOD3 SNP 18 C G 32552396 32552396 Broad FHOD3 80206 broad.mit.edu GRCh37 18 34324133 34324133 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000257209.4:c.3493G>A p.Gly1165Arg p.G1165R ENST00000257209 NM_025135.2 1165 Ggg/Agg 0 Missense_Mutation G 39 FHOD3 SNP 18 G A 32578131 32578131 Broad C19orf47 126526 broad.mit.edu GRCh37 19 40828170 40828170 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000582783.1:c.888G>T p.Lys296Asn p.K296N ENST00000582783 NM_001256440.1 296 aaG/aaT 0 Missense_Mutation C 32 C19orf47 SNP 19 C A 45520010 45520010 Broad SHANK1 50944 broad.mit.edu GRCh37 19 51215261 51215261 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000293441.1:c.903G>T p.Leu301= p.L301= ENST00000293441 NM_016148.2 301 ctG/ctT 0 Silent C 17 SHANK1 SNP 19 C A 55907073 55907073 Broad DPP10 57628 broad.mit.edu GRCh37 2 116510761 116510761 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000393147.2:c.974T>A p.Ile325Asn p.I325N ENST00000393147 NM_001178034.1 325 aTc/aAc 0 Missense_Mutation T 50 DPP10 SNP 2 T A 116227231 116227231 Broad CASS4 57091 broad.mit.edu GRCh37 20 55020984 55020984 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000371336.3:c.488G>A p.Arg163Gln p.R163Q ENST00000371336 NM_001164114.1 163 cGg/cAg 0 Missense_Mutation G 39 CASS4 SNP 20 G A 54454391 54454391 Broad ADAMTS5 11096 broad.mit.edu GRCh37 21 28305259 28305259 + synonymous_variant Silent SNP A A G novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000284987.5:c.1794T>C p.Ala598= p.A598= ENST00000284987 NM_007038.3 598 gcT/gcC 0 Silent A 11 ADAMTS5 SNP 21 A G 27227130 27227130 Broad DSCAM 1826 broad.mit.edu GRCh37 21 41684012 41684012 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000400454.1:c.2058C>G p.Val686= p.V686= ENST00000400454 NM_001271534.1 686 gtC/gtG 0 Silent G 45 DSCAM SNP 21 G C 40605882 40605882 Broad FBLN2 2199 broad.mit.edu GRCh37 3 13661310 13661310 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000404922.3:c.2134G>A p.Ala712Thr p.A712T ENST00000404922 NM_001004019.1 712 Gcg/Acg 0 Missense_Mutation G 42 FBLN2 SNP 3 G A 13636311 13636311 Broad CSPG5 10675 broad.mit.edu GRCh37 3 47618422 47618422 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000383738.2:c.1094G>A p.Arg365Gln p.R365Q ENST00000383738 NM_001206945.1 365 cGg/cAg 0 Missense_Mutation C 23 CSPG5 SNP 3 C T 47593426 47593426 Broad RAD54L2 23132 broad.mit.edu GRCh37 3 51664783 51664783 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000409535.2:c.661G>T p.Val221Phe p.V221F ENST00000409535 NM_015106.2 221 Gtc/Ttc 0 Missense_Mutation G 48 RAD54L2 SNP 3 G T 51639823 51639823 Broad ARL13B 200894 broad.mit.edu GRCh37 3 93722507 93722507 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000394222.3:c.135C>T p.Tyr45= p.Y45= ENST00000394222 NM_001174150.1 45 taC/taT 0 Silent C 18 ARL13B SNP 3 C T 95205197 95205197 Broad MCF2L2 23101 broad.mit.edu GRCh37 3 183017978 183017978 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000328913.3:c.1120C>T p.Leu374= p.L374= ENST00000328913 NM_015078.2 374 Ctg/Ttg 0 Silent G 35 MCF2L2 SNP 3 G A 184500672 184500672 Broad EPHA5 2044 broad.mit.edu GRCh37 4 66467704 66467704 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000273854.3:c.565G>A p.Gly189Ser p.G189S ENST00000273854 NM_004439.5 189 Ggt/Agt 0 Missense_Mutation C 21 EPHA5 SNP 4 C T 66150299 66150299 Broad MUC7 4589 broad.mit.edu GRCh37 4 71347351 71347351 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000413702.1:c.890C>A p.Ser297Tyr p.S297Y ENST00000413702 NM_001145006.1 297 tCc/tAc 0 Missense_Mutation C 30 MUC7 SNP 4 C A 71381940 71381940 Broad PCDHGA3 56112 broad.mit.edu GRCh37 5 140725527 140725527 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000253812.6:c.1927G>T p.Val643Leu p.V643L ENST00000253812 NM_018916.3 643 Gtg/Ttg 0 Missense_Mutation G 40 PCDHGA3 SNP 5 G T 140705711 140705711 Broad SH3TC2 79628 broad.mit.edu GRCh37 5 148408091 148408091 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000515425.1:c.1204G>A p.Val402Ile p.V402I ENST00000515425 NM_024577.3 402 Gtc/Atc 0 Missense_Mutation C 18 SH3TC2 SNP 5 C T 148388284 148388284 Broad DEFB112 245915 broad.mit.edu GRCh37 6 50011475 50011475 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000322246.4:c.155A>T p.Lys52Met p.K52M ENST00000322246 NM_001037498.1 52 aAg/aTg 0 Missense_Mutation T 56 DEFB112 SNP 6 T A 50119434 50119434 Broad MLIP 90523 broad.mit.edu GRCh37 6 54095599 54095599 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000274897.5:c.1201C>G p.Gln401Glu p.Q401E ENST00000274897 NM_138569.2 401 Cag/Gag 0 Missense_Mutation C 17 C6orf142 SNP 6 C G 54203558 54203558 Broad DOPEY1 23033 broad.mit.edu GRCh37 6 83877648 83877648 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000349129.2:c.7160T>G p.Ile2387Ser p.I2387S ENST00000349129 NM_015018.3 2387 aTc/aGc 0 Missense_Mutation T 50 DOPEY1 SNP 6 T G 83934367 83934367 Broad AHR 196 broad.mit.edu GRCh37 7 17379496 17379496 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000242057.4:c.2047C>G p.Gln683Glu p.Q683E ENST00000242057 NM_001621.4 683 Caa/Gaa 0 Missense_Mutation C 29 AHR SNP 7 C G 17346021 17346021 Broad NPC1L1 29881 broad.mit.edu GRCh37 7 44579789 44579789 + synonymous_variant Silent SNP A A G novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000289547.4:c.207T>C p.Asp69= p.D69= ENST00000289547 NM_013389.2 69 gaT/gaC 0 Silent A 12 NPC1L1 SNP 7 A G 44546314 44546314 Broad MLXIPL 51085 broad.mit.edu GRCh37 7 73010600 73010600 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000313375.3:c.1941C>T p.Thr647= p.T647= ENST00000313375 NM_032953.2 647 acC/acT 0 Silent G 39 MLXIPL SNP 7 G A 72648536 72648536 Broad TRAPPC9 83696 broad.mit.edu GRCh37 8 141034107 141034107 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000389328.4:c.2920C>G p.Leu974Val p.L974V ENST00000389328 NM_031466.5 974 Ctc/Gtc 0 Missense_Mutation G 33 TRAPPC9 SNP 8 G C 141103289 141103289 Broad SMU1 55234 broad.mit.edu GRCh37 9 33060569 33060569 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000397149.3:c.644C>A p.Ser215Ter p.S215* ENST00000397149 NM_018225.2 215 tCa/tAa 0 Nonsense_Mutation G 45 SMU1 SNP 9 G T 33050569 33050569 Broad C9orf43 257169 broad.mit.edu GRCh37 9 116175803 116175803 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown x x x ENST00000288462.4:c.30C>G p.Asp10Glu p.D10E ENST00000288462 NM_152786.2 10 gaC/gaG 0 Missense_Mutation C 19 C9orf43 SNP 9 C G 115215624 115215624 Broad NEB 4703 broad.mit.edu GRCh37 2 152402513 152402514 + splice_acceptor_variant Splice_Site INS - - T novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000397345.3:c.20467-2dup p.X6823_splice ENST00000397345 NM_001164508.1 0 Splice_Site_Ins - 20 NEB INS 2 T - 152110760 152110759 Broad GIGYF2 26058 broad.mit.edu GRCh37 2 233712227 233712229 + inframe_deletion In_Frame_Del DEL ACA ACA - novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000409451.3:c.3693_3695del p.Gln1237del p.Q1237del ENST00000409451 1231 ccACAg/ccg 0 In_Frame_Del ACA 6 GIGYF2 DEL 2 - ACA 233420473 233420471 Broad SORBS2 8470 broad.mit.edu GRCh37 4 186536310 186536310 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-61-2104-01 TCGA-61-2104-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000355634.5:c.2943del p.Glu981AspfsTer37 p.E981Dfs*37 ENST00000355634 NM_001270771.1 981 gaG/ga 0 Frame_Shift_Del C 20 SORBS2 DEL 4 - C 186773304 186773304 Broad ADD1 118 genome.wustl.edu GRCh37 4 2916637 2916637 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264758.7:c.1725C>T p.Ala575= p.A575= ENST00000264758 NM_014189.3 575 gcC/gcT 0 Silent C 21 ADD1 SNP 4 T T 2886435 2886435 WashU CLPP 8192 genome.wustl.edu GRCh37 19 6368570 6368570 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000245816.4:c.683G>A p.Arg228His p.R228H ENST00000245816 NM_006012.2 228 cGc/cAc 0 Missense_Mutation G 38 CLPP SNP 19 G A 6319570 6319570 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577114 7577114 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.824G>A p.Cys275Tyr p.C275Y ENST00000269305 NM_001126112.2 275 tGt/tAt 0 Missense_Mutation C 17 TP53 SNP 17 T T 7517839 7517839 WashU ADCY2 108 genome.wustl.edu GRCh37 5 7712987 7712987 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338316.4:c.1597C>G p.His533Asp p.H533D ENST00000338316 NM_020546.2 533 Cat/Gat 0 Missense_Mutation C 25 ADCY2 SNP 5 C G 7765987 7765987 WashU TPTE 7179 genome.wustl.edu GRCh37 21 10934052 10934052 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361285.4:c.925G>A p.Val309Ile p.V309I ENST00000361285 NM_199261.2 309 Gtc/Atc 0 Missense_Mutation C 17 TPTE SNP 21 C T 9955923 9955923 WashU DNAH5 1767 genome.wustl.edu GRCh37 5 13850804 13850804 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265104.4:c.5071C>A p.His1691Asn p.H1691N ENST00000265104 NM_001369.2 1691 Cac/Aac 0 Missense_Mutation G 48 DNAH5 SNP 5 G T 13903804 13903804 WashU ZMYM2 7750 genome.wustl.edu GRCh37 13 20641011 20641011 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000382869.3:c.3153A>G p.Val1051= p.V1051= ENST00000382869 NM_001190965.1 1051 gtA/gtG 0 Silent A 16 ZMYM2 SNP 13 A G 19539011 19539011 WashU CDH18 1016 genome.wustl.edu GRCh37 5 19571821 19571821 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000507958.1:c.1120G>T p.Val374Phe p.V374F ENST00000507958 374 Gtt/Ttt 0 Missense_Mutation C 17 CDH18 SNP 5 C A 19607578 19607578 WashU CHD8 57680 genome.wustl.edu GRCh37 14 21870533 21870533 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399982.2:c.3844C>G p.Leu1282Val p.L1282V ENST00000399982 NM_001170629.1 1282 Ctt/Gtt 0 Missense_Mutation G 34 CHD8 SNP 14 G C 20940373 20940373 WashU DNAH11 8701 genome.wustl.edu GRCh37 7 21906229 21906229 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328843.6:c.11659A>C p.Lys3887Gln p.K3887Q ENST00000328843 3887 Aag/Cag 0 Missense_Mutation A 9 DNAH11 SNP 7 A C 21872754 21872754 WashU DSG1 1828 genome.wustl.edu GRCh37 18 28913635 28913635 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257192.4:c.768C>A p.Asn256Lys p.N256K ENST00000257192 NM_001942.2 256 aaC/aaA 0 Missense_Mutation C 17 DSG1 SNP 18 C A 27167633 27167633 WashU RP3-412A9.15 100133224 genome.wustl.edu GRCh37 22 31552241 31552241 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397595.2:n.393G>A *131* ENST00000397595 0 Missense_Mutation C 19 LOC100133224 SNP 22 C T 29882241 29882241 WashU HLA-G 3135 genome.wustl.edu GRCh37 6 29797366 29797366 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000428701.1:c.791C>T p.Thr264Ile p.T264I ENST00000428701 NM_002127.5 264 aCc/aTc 0 Missense_Mutation C 18 HLA-G SNP 6 C T 29905345 29905345 WashU CDH6 1004 genome.wustl.edu GRCh37 5 31323263 31323263 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265071.2:c.2221G>A p.Glu741Lys p.E741K ENST00000265071 NM_004932.3 741 Gaa/Aaa 0 Missense_Mutation G 45 CDH6 SNP 5 G A 31359020 31359020 WashU CTNNB1 1499 genome.wustl.edu GRCh37 3 41266887 41266887 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000349496.5:c.558C>T p.His186= p.H186= ENST00000349496 NM_001904.3 186 caC/caT 0 Silent C 19 CTNNB1 SNP 3 T T 41241891 41241891 WashU SCUBE1 80274 genome.wustl.edu GRCh37 22 43614426 43614426 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360835.4:c.1726C>T p.Gln576Ter p.Q576* ENST00000360835 NM_173050.3 576 Cag/Tag 0 Nonsense_Mutation G 48 SCUBE1 SNP 22 A A 41944370 41944370 WashU GRAMD4 23151 genome.wustl.edu GRCh37 22 47022815 47022815 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000406902.1:c.119T>A p.Val40Glu p.V40E ENST00000406902 40 gTa/gAa 0 Missense_Mutation T 57 GRAMD4 SNP 22 A A 45401479 45401479 WashU LRCH1 23143 genome.wustl.edu GRCh37 13 47297379 47297379 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000389797.3:c.1783T>A p.Leu595Met p.L595M ENST00000389797 NM_001164211.1 595 Ttg/Atg 0 Missense_Mutation T 64 LRCH1 SNP 13 T A 46195380 46195380 WashU EHBP1 23301 genome.wustl.edu GRCh37 2 63101664 63101664 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263991.5:c.1287T>C p.Pro429= p.P429= ENST00000263991 NM_015252.3 429 ccT/ccC 0 Silent T 53 EHBP1 SNP 2 T C 62955168 62955168 WashU PELI3 246330 genome.wustl.edu GRCh37 11 66240744 66240744 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000320740.7:c.489C>T p.Phe163= p.F163= ENST00000320740 NM_145065.2 163 ttC/ttT 0 Silent C 31 PELI3 SNP 11 C T 65997320 65997320 WashU ZNF407 55628 genome.wustl.edu GRCh37 18 72589219 72589219 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 A A A T A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299687.5:c.4944A>T p.Lys1648Asn p.K1648N ENST00000299687 NM_017757.2 1648 aaA/aaT 0 Missense_Mutation A 2 ZNF407 SNP 18 A T 70718207 70718207 WashU ARHGEF28 64283 genome.wustl.edu GRCh37 5 73069741 73069741 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000545377.1:c.537C>T p.Ser179= p.S179= ENST00000545377 NM_001080479.2 179 tcC/tcT 0 Silent C 22 RGNEF SNP 5 T T 73105497 73105497 WashU RNF213 57674 genome.wustl.edu GRCh37 17 78350233 78350233 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000582970.1:c.13318G>A p.Asp4440Asn p.D4440N ENST00000582970 NM_001256071.1 4440 Gat/Aat 0 Missense_Mutation G 45 RNF213 SNP 17 G A 75964828 75964828 WashU ROBO1 6091 genome.wustl.edu GRCh37 3 78685111 78685111 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000464233.1:c.3185G>A p.Arg1062His p.R1062H ENST00000464233 NM_002941.3 1062 cGt/cAt 0 Missense_Mutation C 19 ROBO1 SNP 3 C T 78767801 78767801 WashU IL16 3603 genome.wustl.edu GRCh37 15 81585210 81585210 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302987.4:c.1734G>A p.Pro578= p.P578= ENST00000302987 578 ccG/ccA 0 Silent G 38 IL16 SNP 15 A A 79372265 79372265 WashU VCAN 1462 genome.wustl.edu GRCh37 5 82815857 82815857 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000265077.3:c.1732G>A p.Glu578Lys p.E578K ENST00000265077 NM_004385.4 578 Gaa/Aaa 0 Missense_Mutation G 45 VCAN SNP 5 G A 82851613 82851613 WashU FOXN3 1112 genome.wustl.edu GRCh37 14 89628930 89628930 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000345097.4:c.1301C>T p.Thr434Ile p.T434I ENST00000345097 NM_001085471.1 434 aCa/aTa 0 Missense_Mutation G 48 FOXN3 SNP 14 G A 88698683 88698683 WashU TGIF2LX 90316 genome.wustl.edu GRCh37 X 89177102 89177102 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000561129.2:c.18C>T p.Asp6= p.D6= ENST00000561129 6 gaC/gaT 0 Silent C 19 TGIF2LX SNP 23 T T 89063758 89063758 WashU GBP2 2634 genome.wustl.edu GRCh37 1 89585952 89585952 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370466.3:c.338C>T p.Ser113Phe p.S113F ENST00000370466 NM_004120.4 113 tCc/tTc 0 Missense_Mutation G 41 GBP2 SNP 1 G A 89358540 89358540 WashU DYNC1I1 1780 genome.wustl.edu GRCh37 7 95442612 95442612 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324972.6:c.328G>T p.Gly110Ter p.G110* ENST00000324972 NM_004411.4 110 Gga/Tga 0 Nonsense_Mutation G 47 DYNC1I1 SNP 7 G T 95280548 95280548 WashU SRRT 51593 genome.wustl.edu GRCh37 7 100485713 100485713 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000347433.4:c.2377C>A p.Gln793Lys p.Q793K ENST00000347433 793 Cag/Aag 0 Missense_Mutation C 21 SRRT SNP 7 C A 100323649 100323649 WashU CCDC63 160762 genome.wustl.edu GRCh37 12 111296397 111296397 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308208.5:c.187A>C p.Ile63Leu p.I63L ENST00000308208 NM_152591.1 63 Atc/Ctc 0 Missense_Mutation A 12 CCDC63 SNP 12 A C 109780780 109780780 WashU C7orf60 154743 genome.wustl.edu GRCh37 7 112535741 112535741 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297145.4:c.356A>T p.Asp119Val p.D119V ENST00000297145 NM_152556.2 119 gAt/gTt 0 Missense_Mutation T 50 C7orf60 SNP 7 T A 112322977 112322977 WashU GPR85 54329 genome.wustl.edu GRCh37 7 112723805 112723805 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297146.3:c.972T>C p.Ala324= p.A324= ENST00000297146 NM_001146266.1 324 gcT/gcC 0 Silent A 7 GPR85 SNP 7 A G 112511041 112511041 WashU SLC12A2 6558 genome.wustl.edu GRCh37 5 127486967 127486967 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262461.2:c.2142G>T p.Trp714Cys p.W714C ENST00000262461 NM_001046.2 714 tgG/tgT 0 Missense_Mutation G 41 SLC12A2 SNP 5 G T 127514866 127514866 WashU CRNN 49860 genome.wustl.edu GRCh37 1 152383392 152383392 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271835.3:c.166G>A p.Glu56Lys p.E56K ENST00000271835 NM_016190.2 56 Gag/Aag 0 Missense_Mutation C 29 CRNN SNP 1 C T 150650016 150650016 WashU IFI16 3428 genome.wustl.edu GRCh37 1 159023472 159023472 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368131.4:c.2067G>A p.Gly689= p.G689= ENST00000368131 NM_005531.2 689 ggG/ggA 0 Silent G 41 IFI16 SNP 1 G A 157290096 157290096 WashU MPZL1 9019 genome.wustl.edu GRCh37 1 167734930 167734930 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359523.2:c.202G>A p.Gly68Arg p.G68R ENST00000359523 NM_024569.4 68 Ggg/Agg 0 Missense_Mutation G 39 MPZL1 SNP 1 G A 166001554 166001554 WashU RNASEL 6041 genome.wustl.edu GRCh37 1 182544694 182544694 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367559.3:c.2059G>A p.Asp687Asn p.D687N ENST00000367559 NM_021133.3 687 Gac/Aac 0 Missense_Mutation C 32 RNASEL SNP 1 C T 180811317 180811317 WashU UFM1 51569 genome.wustl.edu GRCh37 13 38928430 38928441 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL AGAAGTAAGTAC AGAAGTAAGTAC - novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 AGAAGTAAGTAC AGAAGTAAGTAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000239878.4:c.117+3_117+14del p.X39_splice ENST00000239878 NM_016617.2 38 0 Frame_Shift_Del AGAAGTAAGTAC 3 UFM1 DEL 13 AGAAGTAAGTAC - 37826441 37826430 WashU MALAT1 378938 genome.wustl.edu GRCh37 11 65271687 65271688 + non_coding_transcript_exon_variant RNA INS - - GA novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000534336.1:n.6458_6459dup *2153* ENST00000534336 0 Frame_Shift_Ins - 51 MALAT1 INS 11 - GA 65028264 65028263 WashU FAM58BP genome.wustl.edu GRCh37 1 200182704 200182727 + non_coding_transcript_exon_variant,non_coding_transcript_variant RNA DEL GAGGACGCCGGAGAGGAGGCCGGA GAGGACGCCGGAGAGGAGGCCGGA - novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 GAGGACGCCGGAGAGGAGGCCGGA GAGGACGCCGGAGAGGAGGCCGGA GAGGACGCCGGAGAGGAGGCCGGA - GAGGACGCCGGAGAGGAGGCCGGA - Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000424019.1:n.66_89delGGCCGGAGAGGACGCCGGAGAGGA *22* ENST00000424019 0 In_Frame_Del GAGGACGCCGGAGAGGAGGCCGGA 41 FAM58B DEL 1 GAGGACGCCGGAGAGGAGGCCGGA - 198449350 198449327 WashU SVIL 6840 genome.wustl.edu GRCh37 10 29759392 29759392 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375398.2:c.5656G>A p.Val1886Met p.V1886M ENST00000375398 1886 Gtg/Atg 0 Missense_Mutation C 19 SVIL SNP 10 C T 29799398 29799398 WashU ERN2 10595 genome.wustl.edu GRCh37 16 23716380 23716380 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256797.4:c.822C>T p.Gly274= p.G274= ENST00000256797 NM_033266.3 274 ggC/ggT 0 Silent G 38 ERN2 SNP 16 A A 23623881 23623881 WashU BABAM1 29086 genome.wustl.edu GRCh37 19 17382464 17382464 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359435.4:c.344G>T p.Gly115Val p.G115V ENST00000359435 NM_001033549.1 115 gGc/gTc 0 Missense_Mutation G 43 C19orf62 SNP 19 G T 17243464 17243464 WashU RASSF1 11186 genome.wustl.edu GRCh37 3 50368842 50368842 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357043.2:c.811C>T p.Arg271Trp p.R271W ENST00000357043 271 Cgg/Tgg 0 Missense_Mutation G 38 RASSF1 SNP 3 G A 50343846 50343846 WashU ANKRD17 26057 genome.wustl.edu GRCh37 4 73956406 73956406 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358602.4:c.6939G>C p.Gln2313His p.Q2313H ENST00000358602 NM_032217.3 2313 caG/caC 0 Missense_Mutation C 32 ANKRD17 SNP 4 C G 74175270 74175270 WashU TMEM69 51249 broad.mit.edu GRCh37 1 46159420 46159420 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000372025.4:c.587C>T p.Ala196Val p.A196V ENST00000372025 NM_016486.3 196 gCa/gTa 0 Missense_Mutation C 25 TMEM69 SNP 1 C T 45932007 45932007 Broad NEXN 91624 broad.mit.edu GRCh37 1 78383899 78383899 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000334785.7:c.388G>T p.Glu130Ter p.E130* ENST00000334785 NM_144573.3 130 Gag/Tag 0 Nonsense_Mutation G 45 NEXN SNP 1 G T 78156487 78156487 Broad RBMXL1 494115 broad.mit.edu GRCh37 1 89448770 89448770 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000399794.2:c.740G>C p.Gly247Ala p.G247A ENST00000399794 NM_001162536.2 247 gGt/gCt 0 Missense_Mutation C 18 RBMXL1 SNP 1 C G 89221358 89221358 Broad LYST 1130 broad.mit.edu GRCh37 1 235993636 235993636 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000389794.3:c.82G>A p.Glu28Lys p.E28K ENST00000389794 28 Gag/Aag 0 Missense_Mutation C 30 LYST SNP 1 C T 234060259 234060259 Broad ARHGAP21 57584 broad.mit.edu GRCh37 10 24874369 24874369 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000396432.2:c.4849G>A p.Asp1617Asn p.D1617N ENST00000396432 NM_020824.3 1617 Gac/Aac 0 Missense_Mutation C 30 ARHGAP21 SNP 10 C T 24914375 24914375 Broad PTCHD3 374308 broad.mit.edu GRCh37 10 27702228 27702228 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000438700.3:c.952C>T p.Arg318Trp p.R318W ENST00000438700 NM_001034842.3 318 Cgg/Tgg 0 Missense_Mutation G 38 PTCHD3 SNP 10 G A 27742234 27742234 Broad FAM196A 642938 broad.mit.edu GRCh37 10 128974383 128974383 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000522781.1:c.277C>T p.Arg93Cys p.R93C ENST00000522781 NM_001039762.2 93 Cgc/Tgc 0 Missense_Mutation G 40 FAM196A SNP 10 G A 128864373 128864373 Broad CORO1B 57175 broad.mit.edu GRCh37 11 67210003 67210003 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000393893.1:c.97C>T p.Arg33Cys p.R33C ENST00000393893 NM_001018070.2 33 Cgt/Tgt 0 Missense_Mutation G 39 CORO1B SNP 11 G A 66966579 66966579 Broad ARID2 196528 broad.mit.edu GRCh37 12 46230406 46230406 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000334344.6:c.740G>A p.Arg247His p.R247H ENST00000334344 NM_152641.2 247 cGt/cAt 0 Missense_Mutation G 40 ARID2 SNP 12 G A 44516673 44516673 Broad KRT4 3851 broad.mit.edu GRCh37 12 53207919 53207919 + 5_prime_UTR_variant 5'UTR SNP C C G novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 C G C C Unknown Valid Somatic x x 454_PCR_WGA x ENST00000551956.1:c.-77G>C *26* ENST00000551956 0 Missense_Mutation C 31 KRT4 SNP 12 C G 51494186 51494186 Broad STAT6 6778 broad.mit.edu GRCh37 12 57501507 57501507 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000300134.3:c.136G>A p.Asp46Asn p.D46N ENST00000300134 NM_001178078.1 46 Gac/Aac 0 Missense_Mutation C 31 STAT6 SNP 12 C T 55787774 55787774 Broad TPCN1 53373 broad.mit.edu GRCh37 12 113706676 113706676 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000550785.1:c.874C>T p.Arg292Cys p.R292C ENST00000550785 NM_001143819.1 292 Cgc/Tgc 0 Missense_Mutation C 27 TPCN1 SNP 12 C T 112191059 112191059 Broad L2HGDH 79944 broad.mit.edu GRCh37 14 50735979 50735979 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000267436.4:c.808A>G p.Ser270Gly p.S270G ENST00000267436 270 Agt/Ggt 0 Missense_Mutation T 54 L2HGDH SNP 14 T C 49805729 49805729 Broad PCNX 22990 broad.mit.edu GRCh37 14 71492844 71492844 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 G A G G Unknown Valid Somatic x x 454_PCR_WGA x ENST00000304743.2:c.3194G>A p.Arg1065His p.R1065H ENST00000304743 NM_014982.2 1065 cGt/cAt 0 Missense_Mutation G 40 PCNX SNP 14 G A 70562597 70562597 Broad TDRD9 122402 broad.mit.edu GRCh37 14 104457534 104457534 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000409874.4:c.1153C>T p.Arg385Ter p.R385* ENST00000409874 NM_153046.2 385 Cga/Tga 0 Nonsense_Mutation C 27 TDRD9 SNP 14 C T 103527287 103527287 Broad TRPM7 54822 broad.mit.edu GRCh37 15 50901807 50901807 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000313478.7:c.2551G>T p.Ala851Ser p.A851S ENST00000313478 NM_017672.4 851 Gca/Tca 0 Missense_Mutation C 25 TRPM7 SNP 15 C A 48689099 48689099 Broad KIAA0556 23247 broad.mit.edu GRCh37 16 27720106 27720106 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 G A G G Unknown Valid Somatic x x 454_PCR_WGA x ENST00000261588.4:c.1470G>A p.Ser490= p.S490= ENST00000261588 NM_015202.2 490 tcG/tcA 0 Silent G 40 KIAA0556 SNP 16 G A 27627607 27627607 Broad SRSF1 6426 broad.mit.edu GRCh37 17 56084348 56084348 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000258962.4:c.151C>T p.Arg51Cys p.R51C ENST00000258962 NM_006924.4 51 Cgc/Tgc 0 Missense_Mutation G 39 SRSF1 SNP 17 G A 53439347 53439347 Broad RYR1 6261 broad.mit.edu GRCh37 19 39019037 39019037 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000359596.3:c.10916C>T p.Thr3639Met p.T3639M ENST00000359596 3639 aCg/aTg 0 Missense_Mutation C 19 RYR1 SNP 19 C T 43710877 43710877 Broad HTRA2 27429 broad.mit.edu GRCh37 2 74758044 74758044 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000258080.3:c.718C>T p.Leu240Phe p.L240F ENST00000258080 NM_013247.4 240 Ctc/Ttc 0 Missense_Mutation C 32 HTRA2 SNP 2 C T 74611552 74611552 Broad KCNH7 90134 broad.mit.edu GRCh37 2 163302673 163302673 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000332142.5:c.1409T>G p.Phe470Cys p.F470C ENST00000332142 NM_033272.3 470 tTc/tGc 0 Missense_Mutation A 9 KCNH7 SNP 2 A C 163010919 163010919 Broad SCN9A 6335 broad.mit.edu GRCh37 2 167085346 167085346 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000409672.1:c.4028C>A p.Thr1343Lys p.T1343K ENST00000409672 NM_002977.3 1343 aCa/aAa 0 Missense_Mutation G 48 SCN9A SNP 2 G T 166793592 166793592 Broad RAPH1 65059 broad.mit.edu GRCh37 2 204304938 204304938 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 G A G G Unknown Valid Somatic x x 454_PCR_WGA x ENST00000319170.5:c.2975C>T p.Pro992Leu p.P992L ENST00000319170 NM_213589.1 992 cCc/cTc 0 Missense_Mutation G 43 RAPH1 SNP 2 G A 204013183 204013183 Broad TTLL4 9654 broad.mit.edu GRCh37 2 219603723 219603723 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000392102.1:c.1324G>T p.Asp442Tyr p.D442Y ENST00000392102 NM_014640.4 442 Gac/Tac 0 Missense_Mutation G 45 TTLL4 SNP 2 G T 219311967 219311967 Broad CAPN10 11132 broad.mit.edu GRCh37 2 241534673 241534673 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000391984.2:c.1230G>A p.Ala410= p.A410= ENST00000391984 NM_023083.3 410 gcG/gcA 0 Silent G 37 CAPN10 SNP 2 G A 241183346 241183346 Broad TMC2 117532 broad.mit.edu GRCh37 20 2605002 2605002 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000358864.1:c.2266G>A p.Ala756Thr p.A756T ENST00000358864 NM_080751.2 756 Gcc/Acc 0 Missense_Mutation G 38 TMC2 SNP 20 G A 2553002 2553002 Broad OSBPL2 9885 broad.mit.edu GRCh37 20 60847220 60847220 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000313733.3:c.298C>T p.Pro100Ser p.P100S ENST00000313733 NM_144498.2 100 Cct/Tct 0 Missense_Mutation C 26 OSBPL2 SNP 20 C T 60280615 60280615 Broad ADRBK2 157 broad.mit.edu GRCh37 22 26100154 26100154 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 C T C C Unknown Valid Somatic x x 454_PCR_WGA x ENST00000324198.6:c.1306C>T p.Arg436Trp p.R436W ENST00000324198 NM_005160.3 436 Cgg/Tgg 0 Missense_Mutation C 27 ADRBK2 SNP 22 C T 24430154 24430154 Broad SETD5 55209 broad.mit.edu GRCh37 3 9470678 9470678 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000402198.1:c.56T>C p.Met19Thr p.M19T ENST00000402198 NM_001080517.1 19 aTg/aCg 0 Missense_Mutation T 51 SETD5 SNP 3 T C 9445678 9445678 Broad SNRK 54861 broad.mit.edu GRCh37 3 43388910 43388910 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 G T G G Unknown Valid Somatic x x 454_PCR_WGA x ENST00000296088.7:c.1159G>T p.Val387Phe p.V387F ENST00000296088 NM_017719.4 387 Gtc/Ttc 0 Missense_Mutation G 48 SNRK SNP 3 G T 43363914 43363914 Broad TIPARP 25976 broad.mit.edu GRCh37 3 156421399 156421399 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000461166.1:c.1434C>T p.Tyr478= p.Y478= ENST00000461166 NM_001184717.1 478 taC/taT 0 Silent C 17 TIPARP SNP 3 C T 157904093 157904093 Broad YTHDC1 91746 broad.mit.edu GRCh37 4 69184446 69184446 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000344157.4:c.1723C>T p.Arg575Ter p.R575* ENST00000344157 NM_001031732.2 575 Cga/Tga 0 Nonsense_Mutation G 40 YTHDC1 SNP 4 G A 68867041 68867041 Broad PCDH10 57575 broad.mit.edu GRCh37 4 134073508 134073508 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000264360.5:c.2213T>G p.Val738Gly p.V738G ENST00000264360 NM_032961.1 738 gTg/gGg 0 Missense_Mutation T 59 PCDH10 SNP 4 T G 134292958 134292958 Broad ACSL1 2180 broad.mit.edu GRCh37 4 185689498 185689498 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 G A G G Unknown Valid Somatic x x 454_PCR_WGA x ENST00000515030.1:c.1100C>T p.Pro367Leu p.P367L ENST00000515030 NM_001286708.1 367 cCa/cTa 0 Missense_Mutation G 47 ACSL1 SNP 4 G A 185926492 185926492 Broad PRDM9 56979 broad.mit.edu GRCh37 5 23527677 23527677 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 C G C C Unknown Valid Somatic x x 454_PCR_WGA x ENST00000296682.3:c.2480C>G p.Thr827Arg p.T827R ENST00000296682 NM_020227.2 827 aCa/aGa 0 Missense_Mutation C 17 PRDM9 SNP 5 C G 23563434 23563434 Broad DEPDC1B 55789 broad.mit.edu GRCh37 5 59982922 59982922 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000265036.5:c.181C>A p.Gln61Lys p.Q61K ENST00000265036 NM_018369.2 61 Caa/Aaa 0 Missense_Mutation G 45 DEPDC1B SNP 5 G T 60018679 60018679 Broad ADAMTS19 171019 broad.mit.edu GRCh37 5 129019935 129019935 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000274487.4:c.2769C>T p.Ser923= p.S923= ENST00000274487 NM_133638.3 923 agC/agT 0 Silent C 28 ADAMTS19 SNP 5 C T 129047834 129047834 Broad PCDHGB6 56100 broad.mit.edu GRCh37 5 140789004 140789004 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000520790.1:c.1235G>A p.Arg412Gln p.R412Q ENST00000520790 NM_018926.2 412 cGa/cAa 0 Missense_Mutation G 37 PCDHGB6 SNP 5 G A 140769188 140769188 Broad SPDL1 54908 broad.mit.edu GRCh37 5 169025560 169025560 + synonymous_variant Silent SNP T T G novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000265295.4:c.1113T>G p.Leu371= p.L371= ENST00000265295 NM_017785.4 371 ctT/ctG 0 Silent T 62 CCDC99 SNP 5 T G 168958138 168958138 Broad HK3 3101 broad.mit.edu GRCh37 5 176316506 176316506 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 C T C C Unknown Valid Somatic x x 454_PCR_WGA x ENST00000292432.5:c.790G>A p.Asp264Asn p.D264N ENST00000292432 NM_002115.2 264 Gac/Aac 0 Missense_Mutation C 32 HK3 SNP 5 C T 176249112 176249112 Broad TRERF1 55809 broad.mit.edu GRCh37 6 42231079 42231079 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000372922.4:c.1863G>A p.Ser621= p.S621= ENST00000372922 NM_033502.2 621 tcG/tcA 0 Silent C 23 TRERF1 SNP 6 C T 42339057 42339057 Broad GLTSCR1L 23506 broad.mit.edu GRCh37 6 42819929 42819929 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000314073.5:c.1939C>T p.Leu647= p.L647= ENST00000314073 647 Ctg/Ttg 0 Silent C 20 KIAA0240 SNP 6 C T 42927907 42927907 Broad SDK1 221935 broad.mit.edu GRCh37 7 4050614 4050614 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000404826.2:c.2148G>T p.Val716= p.V716= ENST00000404826 NM_152744.3 716 gtG/gtT 0 Silent G 46 SDK1 SNP 7 G T 4017140 4017140 Broad INHBA 3624 broad.mit.edu GRCh37 7 41729271 41729271 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 C T C C Unknown Valid Somatic x x 454_PCR_WGA x ENST00000242208.4:c.1258G>A p.Val420Met p.V420M ENST00000242208 NM_002192.2 420 Gtg/Atg 0 Missense_Mutation C 19 INHBA SNP 7 C T 41695796 41695796 Broad CALCR 799 broad.mit.edu GRCh37 7 93108747 93108747 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000359558.2:c.178G>A p.Val60Ile p.V60I ENST00000359558 NM_001164737.1 60 Gtc/Atc 0 Missense_Mutation C 19 CALCR SNP 7 C T 92946683 92946683 Broad RELN 5649 broad.mit.edu GRCh37 7 103179742 103179742 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 C T C C Unknown Valid Somatic x x 454_PCR_WGA x ENST00000428762.1:c.6963G>A p.Thr2321= p.T2321= ENST00000428762 NM_005045.3 2321 acG/acA 0 Silent C 23 RELN SNP 7 C T 102966978 102966978 Broad OR2A12 346525 broad.mit.edu GRCh37 7 143792231 143792231 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000408949.2:c.31G>T p.Val11Phe p.V11F ENST00000408949 NM_001004135.1 11 Gtc/Ttc 0 Missense_Mutation G 36 OR2A12 SNP 7 G T 143423164 143423164 Broad ZFHX4 79776 broad.mit.edu GRCh37 8 77766549 77766549 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000521891.2:c.7392G>A p.Ser2464= p.S2464= ENST00000521891 NM_024721.4 2464 tcG/tcA 0 Silent G 39 ZFHX4 SNP 8 G A 77929104 77929104 Broad CDH17 1015 broad.mit.edu GRCh37 8 95186438 95186438 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000027335.3:c.475C>A p.Pro159Thr p.P159T ENST00000027335 NM_004063.3 159 Ccc/Acc 0 Missense_Mutation G 41 CDH17 SNP 8 G T 95255614 95255614 Broad MRPL13 28998 broad.mit.edu GRCh37 8 121432109 121432110 + missense_variant Missense_Mutation DNP GC GC AA novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000306185.3:c.375_376delinsTT p.Leu125_His126delinsPheTyr p.L125_H126delinsFY ENST00000306185 NM_014078.5 125 ttGCat/ttTTat 0 Missense_Mutation GC 46 MRPL13 DNP 8 GC AA 121501291 121501290 Broad NDUFB9 4715 broad.mit.edu GRCh37 8 125551521 125551521 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000276689.3:c.94G>T p.Val32Phe p.V32F ENST00000276689 NM_001278646.1 32 Gtc/Ttc 0 Missense_Mutation G 40 NDUFB9 SNP 8 G T 125620702 125620702 Broad MAGEB4 4115 broad.mit.edu GRCh37 X 30261039 30261039 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000378982.2:c.787A>C p.Ser263Arg p.S263R ENST00000378982 NM_002367.3 263 Agt/Cgt 0 Missense_Mutation A 7 MAGEB4 SNP 23 A C 30170960 30170960 Broad SPIN4 139886 broad.mit.edu GRCh37 X 62570404 62570404 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000335144.3:c.295G>T p.Glu99Ter p.E99* ENST00000335144 NM_001012968.2 99 Gag/Tag 0 Nonsense_Mutation C 32 SPIN4 SNP 23 C A 62487129 62487129 Broad ARMCX1 51309 broad.mit.edu GRCh37 X 100808226 100808226 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 G C G G Unknown Valid Somatic x x 454_PCR_WGA x ENST00000372829.3:c.313G>C p.Glu105Gln p.E105Q ENST00000372829 NM_016608.1 105 Gag/Cag 0 Missense_Mutation G 33 ARMCX1 SNP 23 G C 100694882 100694882 Broad PLXNA3 55558 broad.mit.edu GRCh37 X 153699459 153699459 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown x x x ENST00000369682.3:c.5168G>A p.Arg1723His p.R1723H ENST00000369682 NM_017514.3 1723 cGc/cAc 0 Missense_Mutation G 38 PLXNA3 SNP 23 G A 153352653 153352653 Broad TP53 7157 broad.mit.edu GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 T C T T Unknown Valid Somatic Phase_I Capture 454_PCR_WGA Illumina GAIIx ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 Missense_Mutation T 49 TP53 SNP 17 T C 7518915 7518915 Broad AQP12B 653437 broad.mit.edu GRCh37 2 241621800 241621800 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000407834.3:c.455delG p.Ser152ThrfsTer24 p.S152Tfs*24 ENST00000407834 NM_001102467.1 152 aGc/ac 0 Frame_Shift_Del C 28 AQP12B DEL 2 - C 241270473 241270473 Broad SLURP1 57152 broad.mit.edu GRCh37 8 143822596 143822598 + inframe_deletion In_Frame_Del DEL AGA AGA - novel Unknown TCGA-25-1319-01 TCGA-25-1319-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000246515.1:c.275_277del p.Phe92del p.F92del ENST00000246515 NM_020427.2 92 tTCTgc/tgc 0 In_Frame_Del AGA 7 SLURP1 DEL 8 - AGA 143819600 143819598 Broad ADAMTS4 9507 hgsc.bcm.edu GRCh37 1 161163824 161163824 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367996.5:c.1449G>C p.Gln483His p.Q483H ENST00000367996 NM_005099.4 483 caG/caC 0 Missense_Mutation C 32 ADAMTS4 SNP 1 C G 159430448 159430448 Baylor ANO6 196527 hgsc.bcm.edu GRCh37 12 45810569 45810569 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000423947.3:c.2162G>C p.Arg721Thr p.R721T ENST00000423947 NM_001204803.1 721 aGa/aCa 0 Missense_Mutation G 33 ANO6 SNP 12 G C 44096836 44096836 Baylor APLP2 334 hgsc.bcm.edu GRCh37 11 129993574 129993574 + synonymous_variant Silent SNP C C G novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263574.5:c.990C>G p.Leu330= p.L330= ENST00000263574 NM_001642.2 330 ctC/ctG 0 Silent C 32 APLP2 SNP 11 C G 129498784 129498784 Baylor ARRDC3 57561 hgsc.bcm.edu GRCh37 5 90671339 90671339 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265138.3:c.602G>C p.Gly201Ala p.G201A ENST00000265138 NM_020801.2 201 gGc/gCc 0 Missense_Mutation C 26 ARRDC3 SNP 5 C G 90707095 90707095 Baylor ARSG 22901 hgsc.bcm.edu GRCh37 17 66381226 66381226 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000448504.2:c.1004C>G p.Thr335Arg p.T335R ENST00000448504 NM_014960.4 335 aCg/aGg 0 Missense_Mutation C 19 ARSG SNP 17 C G 63892821 63892821 Baylor CCDC67 159989 hgsc.bcm.edu GRCh37 11 93104410 93104410 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000298050.3:c.753C>T p.Leu251= p.L251= ENST00000298050 NM_181645.3 251 ctC/ctT 0 Silent C 32 CCDC67 SNP 11 C T 92744058 92744058 Baylor CCNT1 904 hgsc.bcm.edu GRCh37 12 49093620 49093620 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000261900.3:c.437T>G p.Phe146Cys p.F146C ENST00000261900 NM_001240.3 146 tTt/tGt 0 Missense_Mutation A 1 CCNT1 SNP 12 A C 47379887 47379887 Baylor CD200R1 131450 hgsc.bcm.edu GRCh37 3 112647781 112647781 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000308611.3:c.651C>T p.Ser217= p.S217= ENST00000308611 NM_138806.3 217 agC/agT 0 Silent G 46 CD200R1 SNP 3 G A 114130471 114130471 Baylor CPAMD8 27151 hgsc.bcm.edu GRCh37 19 17132877 17132877 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C C G C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000443236.1:c.348G>C p.Gln116His p.Q116H ENST00000443236 NM_015692.2 116 caG/caC 0 Missense_Mutation C 24 CPAMD8 SNP 19 C G 16993877 16993877 Baylor CYTH1 9267 hgsc.bcm.edu GRCh37 17 76672214 76672214 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361101.4:c.1156G>A p.Ala386Thr p.A386T ENST00000361101 NM_017456.2 386 Gca/Aca 0 Missense_Mutation C 27 CYTH1 SNP 17 C T 74183809 74183809 Baylor DCLK1 9201 hgsc.bcm.edu GRCh37 13 36686117 36686117 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000255448.4:c.612G>A p.Leu204= p.L204= ENST00000255448 NM_004734.4 204 ctG/ctA 0 Silent C 25 DCLK1 SNP 13 C T 35584117 35584117 Baylor DDX59 83479 hgsc.bcm.edu GRCh37 1 200617689 200617689 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000331314.6:c.1474C>G p.Leu492Val p.L492V ENST00000331314 NM_001031725.4 492 Ctt/Gtt 0 Missense_Mutation G 36 DDX59 SNP 1 G C 198884312 198884312 Baylor DENND4A 10260 hgsc.bcm.edu GRCh37 15 66010133 66010133 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000443035.3:c.1790C>G p.Ser597Cys p.S597C ENST00000443035 NM_001144823.1 597 tCt/tGt 0 Missense_Mutation G 33 DENND4A SNP 15 G C 63797187 63797187 Baylor DNAH7 56171 hgsc.bcm.edu GRCh37 2 196737142 196737142 + synonymous_variant Silent SNP G G T novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000312428.6:c.6465C>A p.Gly2155= p.G2155= ENST00000312428 NM_018897.2 2155 ggC/ggA 0 Silent G 46 DNAH7 SNP 2 G T 196445387 196445387 Baylor DST 667 hgsc.bcm.edu GRCh37 6 56425125 56425125 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000244364.6:c.6538del p.Ala2180ProfsTer8 p.A2180Pfs*8 ENST00000244364 NM_015548.4 2180 Gcc/cc 0 Frame_Shift_Del C 26 DST DEL 6 C - 56533084 56533084 Baylor EZR 7430 hgsc.bcm.edu GRCh37 6 159206613 159206613 + splice_region_variant,synonymous_variant Splice_Region SNP C C A novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367075.3:c.195G>T p.Val65= p.V65= ENST00000367075 NM_001111077.1 65 gtG/gtT 0 Silent C 17 EZR SNP 6 C A 159126601 159126601 Baylor FAM24A 118670 hgsc.bcm.edu GRCh37 10 124672470 124672470 + stop_lost Nonstop_Mutation SNP A A T novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368894.1:c.318A>T p.Ter106CysextTer35 p.*106Cext*35 ENST00000368894 NM_001029888.1 106 tgA/tgT 0 Missense_Mutation A 10 FAM24A SNP 10 A T 124662460 124662460 Baylor FBLN1 2192 hgsc.bcm.edu GRCh37 22 45938104 45938118 + inframe_deletion In_Frame_Del DEL GTTTCCGCTGCGAAT GTTTCCGCTGCGAAT - novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 GTTTCCGCTGCGAAT GTTTCCGCTGCGAAT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000327858.6:c.1137_1151del p.Phe380_Cys384del p.F380_C384del ENST00000327858 NM_006486.2 379 aGTTTCCGCTGCGAATgc/agc 0 In_Frame_Del GTTTCCGCTGCGAAT 36 FBLN1 DEL 22 GTTTCCGCTGCGAAT - 44316782 44316768 Baylor FNBP1 23048 hgsc.bcm.edu GRCh37 9 132658207 132658207 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000446176.2:c.1756G>A p.Asp586Asn p.D586N ENST00000446176 NM_015033.2 586 Gat/Aat 0 Missense_Mutation C 31 FNBP1 SNP 9 C T 131698028 131698028 Baylor GNAT1 2779 hgsc.bcm.edu GRCh37 3 50232277 50232277 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000232461.3:c.942G>C p.Glu314Asp p.E314D ENST00000232461 NM_144499.2 314 gaG/gaC 0 Missense_Mutation G 33 GNAT1 SNP 3 G C 50207281 50207281 Baylor HDAC4 9759 hgsc.bcm.edu GRCh37 2 240024584 240024584 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000345617.3:c.2106C>T p.Arg702= p.R702= ENST00000345617 NM_006037.3 702 cgC/cgT 0 Silent G 38 HDAC4 SNP 2 G A 239689521 239689521 Baylor HOOK1 51361 hgsc.bcm.edu GRCh37 1 60324139 60324139 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371208.3:c.1282G>A p.Glu428Lys p.E428K ENST00000371208 NM_015888.4 428 Gaa/Aaa 0 Missense_Mutation G 45 HOOK1 SNP 1 G A 60096727 60096727 Baylor HPS3 84343 hgsc.bcm.edu GRCh37 3 148885739 148885739 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000296051.2:c.2856G>A p.Glu952= p.E952= ENST00000296051 NM_032383.3 952 gaG/gaA 0 Silent G 33 HPS3 SNP 3 G A 150368429 150368429 Baylor HSPA1L 3305 hgsc.bcm.edu GRCh37 6 31778204 31778204 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375654.4:c.1546G>C p.Glu516Gln p.E516Q ENST00000375654 NM_005527.3 516 Gag/Cag 0 Missense_Mutation C 30 HSPA1L SNP 6 C G 31886183 31886183 Baylor HYDIN 54768 hgsc.bcm.edu GRCh37 16 70998699 70998699 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393567.2:c.5720A>T p.Lys1907Ile p.K1907I ENST00000393567 NM_001270974.1 1907 aAa/aTa 0 Missense_Mutation T 64 HYDIN SNP 16 T A 69556200 69556200 Baylor IL1RAPL1 11141 hgsc.bcm.edu GRCh37 X 29935625 29935625 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 G G G T G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000378993.1:c.823G>T p.Gly275Ter p.G275* ENST00000378993 NM_014271.3 275 Gga/Tga 0 Nonsense_Mutation G 39 IL1RAPL1 SNP 23 G T 29845546 29845546 Baylor NYNRIN 57523 hgsc.bcm.edu GRCh37 14 24879216 24879216 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000382554.3:c.2216T>G p.Phe739Cys p.F739C ENST00000382554 NM_025081.2 739 tTt/tGt 0 Missense_Mutation T 64 NYNRIN SNP 14 T G 23949056 23949056 Baylor MAMDC4 158056 hgsc.bcm.edu GRCh37 9 139754426 139754426 + synonymous_variant Silent SNP A A G novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000317446.2:c.3282A>G p.Gly1094= p.G1094= ENST00000317446 NM_206920.2 1094 ggA/ggG 0 Silent A 10 MAMDC4 SNP 9 A G 138874247 138874247 Baylor MUC19 283463 hgsc.bcm.edu GRCh37 12 40821802 40821802 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000454784.4:c.551G>A p.Gly184Glu p.G184E ENST00000454784 184 gGa/gAa 0 Missense_Mutation G 41 MUC19 SNP 12 G A 39108069 39108069 Baylor NOD1 10392 hgsc.bcm.edu GRCh37 7 30487962 30487962 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000222823.4:c.2237A>C p.Lys746Thr p.K746T ENST00000222823 NM_006092.2 746 aAg/aCg 0 Missense_Mutation T 56 NOD1 SNP 7 T G 30454487 30454487 Baylor NPAS3 64067 hgsc.bcm.edu GRCh37 14 33684437 33684437 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356141.4:c.190C>T p.Arg64Trp p.R64W ENST00000356141 64 Cgg/Tgg 0 Missense_Mutation C 23 NPAS3 SNP 14 C T 32754188 32754188 Baylor PABPC3 5042 hgsc.bcm.edu GRCh37 13 25671668 25671668 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000281589.3:c.1332G>C p.Lys444Asn p.K444N ENST00000281589 NM_030979.2 444 aaG/aaC 0 Missense_Mutation G 34 PABPC3 SNP 13 G C 24569668 24569668 Baylor PDCD11 22984 hgsc.bcm.edu GRCh37 10 105200054 105200054 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369797.3:c.4156C>T p.His1386Tyr p.H1386Y ENST00000369797 NM_014976.1 1386 Cac/Tac 0 Missense_Mutation C 21 PDCD11 SNP 10 C T 105190044 105190044 Baylor PITPNM3 83394 hgsc.bcm.edu GRCh37 17 6381332 6381332 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262483.8:c.863C>T p.Ala288Val p.A288V ENST00000262483 NM_031220.3 288 gCc/gTc 0 Missense_Mutation G 42 PITPNM3 SNP 17 G A 6322056 6322056 Baylor PPAP2A 8611 hgsc.bcm.edu GRCh37 5 54721866 54721866 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000264775.5:c.554T>G p.Leu185Arg p.L185R ENST00000264775 NM_176895.2 185 cTt/cGt 0 Missense_Mutation A 3 PPAP2A SNP 5 A C 54757623 54757623 Baylor PRB1 5542 hgsc.bcm.edu GRCh37 12 11506403 11506403 + intron_variant Intron SNP A A G novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000500254.2:c.314-79T>C *105* ENST00000500254 NM_199353.2 0 Missense_Mutation A 9 PRB1 SNP 12 A G 11397670 11397670 Baylor RAPGEF6 51735 hgsc.bcm.edu GRCh37 5 130766743 130766743 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000296859.6:c.4298A>C p.Lys1433Thr p.K1433T ENST00000296859 1433 aAa/aCa 0 Missense_Mutation T 64 RAPGEF6 SNP 5 T G 130794642 130794642 Baylor RARS2 57038 hgsc.bcm.edu GRCh37 6 88234357 88234357 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000369536.5:c.892G>A p.Val298Ile p.V298I ENST00000369536 NM_020320.3 298 Gta/Ata 0 Missense_Mutation C 17 RARS2 SNP 6 C T 88291076 88291076 Baylor RELN 5649 hgsc.bcm.edu GRCh37 7 103113287 103113287 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000428762.1:c.10355G>A p.Arg3452Lys p.R3452K ENST00000428762 NM_005045.3 3452 aGa/aAa 0 Missense_Mutation C 32 RELN SNP 7 C T 102900523 102900523 Baylor SCN5A 6331 hgsc.bcm.edu GRCh37 3 38651337 38651337 + synonymous_variant Silent SNP G G T novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000413689.1:c.822C>A p.Gly274= p.G274= ENST00000413689 NM_001160160.1 274 ggC/ggA 0 Silent G 46 SCN5A SNP 3 G T 38626341 38626341 Baylor SCN5A 6331 hgsc.bcm.edu GRCh37 3 38651343 38651343 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000413689.1:c.816C>A p.Phe272Leu p.F272L ENST00000413689 NM_001160160.1 272 ttC/ttA 0 Missense_Mutation G 45 SCN5A SNP 3 G T 38626347 38626347 Baylor ZFYVE28 57732 hgsc.bcm.edu GRCh37 4 2275014 2275014 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000290974.2:c.2209G>T p.Val737Leu p.V737L ENST00000290974 NM_020972.2 737 Gtg/Ttg 0 Missense_Mutation C 17 ZFYVE28 SNP 4 C A 2244812 2244812 Baylor ZMAT5 55954 hgsc.bcm.edu GRCh37 22 30134344 30134344 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0928-01 TCGA-10-0928-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397781.3:c.358C>T p.Arg120Trp p.R120W ENST00000397781 NM_019103.2 120 Cgg/Tgg 0 Missense_Mutation G 38 ZMAT5 SNP 22 G A 28464344 28464344 Baylor PANK4 55229 broad.mit.edu GRCh37 1 2452247 2452247 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000378466.3:c.521A>C p.Asp174Ala p.D174A ENST00000378466 NM_018216.1 174 gAc/gCc 0 Missense_Mutation T 58 PANK4 SNP 1 T G 2442107 2442107 Broad HIVEP3 59269 broad.mit.edu GRCh37 1 42045958 42045958 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000372583.1:c.4511C>T p.Ser1504Leu p.S1504L ENST00000372583 NM_024503.4 1504 tCa/tTa 0 Missense_Mutation G 45 HIVEP3 SNP 1 G A 41818545 41818545 Broad PRKAA2 5563 broad.mit.edu GRCh37 1 57173243 57173243 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000371244.4:c.1516A>G p.Thr506Ala p.T506A ENST00000371244 NM_006252.3 506 Act/Gct 0 Missense_Mutation A 2 PRKAA2 SNP 1 A G 56945831 56945831 Broad HIPK1 204851 broad.mit.edu GRCh37 1 114483238 114483238 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000369558.1:c.233C>A p.Ala78Asp p.A78D ENST00000369558 78 gCt/gAt 0 Missense_Mutation C 28 HIPK1 SNP 1 C A 114284761 114284761 Broad CRCT1 54544 broad.mit.edu GRCh37 1 152488084 152488084 + synonymous_variant Silent SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000368790.3:c.225C>T p.Cys75= p.C75= ENST00000368790 NM_019060.2 75 tgC/tgT 0 Silent C 28 CRCT1 SNP 1 C T 150754708 150754708 Broad C1orf85 112770 broad.mit.edu GRCh37 1 156264616 156264616 + synonymous_variant Silent SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000362007.1:c.312C>T p.Pro104= p.P104= ENST00000362007 NM_001256609.1 104 ccC/ccT 0 Silent G 39 C1orf85 SNP 1 G A 154531240 154531240 Broad COPA 1314 broad.mit.edu GRCh37 1 160268941 160268941 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000368069.3:c.1808C>T p.Pro603Leu p.P603L ENST00000368069 603 cCc/cTc 0 Missense_Mutation G 43 COPA SNP 1 G A 158535565 158535565 Broad ADAMTS4 9507 broad.mit.edu GRCh37 1 161163815 161163815 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000367996.5:c.1458C>G p.His486Gln p.H486Q ENST00000367996 NM_005099.4 486 caC/caG 0 Missense_Mutation G 36 ADAMTS4 SNP 1 G C 159430439 159430439 Broad IER5 51278 broad.mit.edu GRCh37 1 181058125 181058125 + synonymous_variant Silent SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000367577.4:c.87G>A p.Lys29= p.K29= ENST00000367577 NM_016545.4 29 aaG/aaA 0 Silent G 34 IER5 SNP 1 G A 179324748 179324748 Broad USH2A 7399 broad.mit.edu GRCh37 1 216062312 216062312 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000307340.3:c.7679A>G p.Asn2560Ser p.N2560S ENST00000307340 NM_206933.2 2560 aAt/aGt 0 Missense_Mutation T 52 USH2A SNP 1 T C 214128935 214128935 Broad LDB3 11155 broad.mit.edu GRCh37 10 88476450 88476450 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000429277.2:c.1613G>A p.Arg538Lys p.R538K ENST00000429277 NM_001171610.1 538 aGg/aAg 0 Missense_Mutation G 35 LDB3 SNP 10 G A 88466430 88466430 Broad IDE 3416 broad.mit.edu GRCh37 10 94234621 94234621 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000265986.6:c.2093A>C p.Asp698Ala p.D698A ENST00000265986 NM_004969.3 698 gAt/gCt 0 Missense_Mutation T 50 IDE SNP 10 T G 94224601 94224601 Broad MMP21 118856 broad.mit.edu GRCh37 10 127460876 127460876 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000368808.3:c.890C>T p.Thr297Met p.T297M ENST00000368808 NM_147191.1 297 aCg/aTg 0 Missense_Mutation G 40 MMP21 SNP 10 G A 127450866 127450866 Broad INTS4 92105 broad.mit.edu GRCh37 11 77639496 77639496 + synonymous_variant Silent SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000534064.1:c.1263C>T p.Asn421= p.N421= ENST00000534064 NM_033547.3 421 aaC/aaT 0 Silent G 40 INTS4 SNP 11 G A 77317144 77317144 Broad FLI1 2313 broad.mit.edu GRCh37 11 128680520 128680520 + synonymous_variant Silent SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000527786.2:c.996C>T p.Tyr332= p.Y332= ENST00000527786 NM_001271010.1 332 taC/taT 0 Silent C 19 FLI1 SNP 11 C T 128185730 128185730 Broad SLCO1C1 53919 broad.mit.edu GRCh37 12 20890101 20890101 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000381552.1:c.1443A>T p.Lys481Asn p.K481N ENST00000381552 481 aaA/aaT 0 Missense_Mutation A 4 SLCO1C1 SNP 12 A T 20781368 20781368 Broad SP1 6667 broad.mit.edu GRCh37 12 53800433 53800433 + synonymous_variant Silent SNP A A T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000327443.4:c.1740A>T p.Ala580= p.A580= ENST00000327443 NM_138473.2 580 gcA/gcT 0 Silent A 7 SP1 SNP 12 A T 52086700 52086700 Broad NEUROD4 58158 broad.mit.edu GRCh37 12 55420538 55420538 + synonymous_variant Silent SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000242994.3:c.315C>T p.Asp105= p.D105= ENST00000242994 NM_021191.2 105 gaC/gaT 0 Silent C 19 NEUROD4 SNP 12 C T 53706805 53706805 Broad STAT6 6778 broad.mit.edu GRCh37 12 57502041 57502041 + synonymous_variant Silent SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000300134.3:c.21C>T p.Val7= p.V7= ENST00000300134 NM_001178078.1 7 gtC/gtT 0 Silent G 33 STAT6 SNP 12 G A 55788308 55788308 Broad TRHDE 29953 broad.mit.edu GRCh37 12 72893328 72893328 + synonymous_variant Silent SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000261180.4:c.1500C>T p.Asp500= p.D500= ENST00000261180 NM_013381.2 500 gaC/gaT 0 Silent C 19 TRHDE SNP 12 C T 71179595 71179595 Broad FAM222A 84915 broad.mit.edu GRCh37 12 110205819 110205819 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000538780.1:c.85G>A p.Glu29Lys p.E29K ENST00000538780 NM_032829.2 29 Gag/Aag 0 Missense_Mutation G 37 C12orf34 SNP 12 G A 108690202 108690202 Broad CCDC62 84660 broad.mit.edu GRCh37 12 123276578 123276578 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000253079.6:c.682G>A p.Glu228Lys p.E228K ENST00000253079 NM_201435.4 228 Gaa/Aaa 0 Missense_Mutation G 45 CCDC62 SNP 12 G A 121842531 121842531 Broad TMEM132B 114795 broad.mit.edu GRCh37 12 126004167 126004167 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000299308.3:c.1274C>T p.Ala425Val p.A425V ENST00000299308 NM_052907.2 425 gCc/gTc 0 Missense_Mutation C 26 TMEM132B SNP 12 C T 124570120 124570120 Broad POSTN 10631 broad.mit.edu GRCh37 13 38156560 38156560 + synonymous_variant Silent SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000379747.4:c.1335C>T p.Asn445= p.N445= ENST00000379747 NM_006475.2 445 aaC/aaT 0 Silent G 40 POSTN SNP 13 G A 37054560 37054560 Broad DHRS2 10202 broad.mit.edu GRCh37 14 24108162 24108162 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000344777.7:c.89G>A p.Arg30Lys p.R30K ENST00000344777 NM_182908.4 30 aGg/aAg 0 Missense_Mutation G 35 DHRS2 SNP 14 G A 23178002 23178002 Broad SIX4 51804 broad.mit.edu GRCh37 14 61187159 61187159 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000216513.4:c.868T>G p.Ser290Ala p.S290A ENST00000216513 NM_017420.4 290 Tca/Gca 0 Missense_Mutation A 10 SIX4 SNP 14 A C 60256912 60256912 Broad GALNT16 57452 broad.mit.edu GRCh37 14 69808446 69808446 + synonymous_variant Silent SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000337827.4:c.1236C>T p.Phe412= p.F412= ENST00000337827 NM_020692.2 412 ttC/ttT 0 Silent C 30 GALNTL1 SNP 14 C T 68878199 68878199 Broad SPTBN5 51332 broad.mit.edu GRCh37 15 42178462 42178462 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000320955.6:c.991G>C p.Ala331Pro p.A331P ENST00000320955 NM_016642.3 331 Gcg/Ccg 0 Missense_Mutation C 26 SPTBN5 SNP 15 C G 39965754 39965754 Broad TMOD3 29766 broad.mit.edu GRCh37 15 52181327 52181327 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000308580.7:c.481C>G p.Gln161Glu p.Q161E ENST00000308580 NM_014547.4 161 Caa/Gaa 0 Missense_Mutation C 21 TMOD3 SNP 15 C G 49968619 49968619 Broad RNF111 54778 broad.mit.edu GRCh37 15 59383326 59383326 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000559209.1:c.2739A>T p.Arg913Ser p.R913S ENST00000559209 913 agA/agT 0 Missense_Mutation A 12 RNF111 SNP 15 A T 57170618 57170618 Broad IGF1R 3480 broad.mit.edu GRCh37 15 99472878 99472878 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000268035.6:c.2874C>A p.Phe958Leu p.F958L ENST00000268035 NM_000875.3 958 ttC/ttA 0 Missense_Mutation C 30 IGF1R SNP 15 C A 97290401 97290401 Broad JMJD8 339123 broad.mit.edu GRCh37 16 733194 733194 + synonymous_variant Silent SNP C C A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000412368.2:c.615G>T p.Gly205= p.G205= ENST00000412368 NM_001005920.2 205 ggG/ggT 0 Silent C 18 JMJD8 SNP 16 C A 673195 673195 Broad XPO6 23214 broad.mit.edu GRCh37 16 28115942 28115942 + synonymous_variant Silent SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000304658.5:c.2871C>T p.Thr957= p.T957= ENST00000304658 NM_015171.3 957 acC/acT 0 Silent G 39 XPO6 SNP 16 G A 28023443 28023443 Broad SLC5A2 6524 broad.mit.edu GRCh37 16 31499718 31499718 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000330498.3:c.1036G>A p.Val346Met p.V346M ENST00000330498 NM_003041.3 346 Gtg/Atg 0 Missense_Mutation G 40 SLC5A2 SNP 16 G A 31407219 31407219 Broad TP53 7157 broad.mit.edu GRCh37 17 7577559 7577559 + missense_variant Missense_Mutation SNP G G A rs28934573 Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.722C>T p.Ser241Phe p.S241F ENST00000269305 NM_001126112.2 241 tCc/tTc 0 Missense_Mutation G 41 TP53 SNP 17 G A 7518284 7518284 Broad RAPGEFL1 51195 broad.mit.edu GRCh37 17 38349236 38349236 + synonymous_variant Silent SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000436615.3:c.1185G>A p.Glu395= p.E395= ENST00000436615 NM_016339.3 395 gaG/gaA 0 Silent G 33 RAPGEFL1 SNP 17 G A 35602762 35602762 Broad MC5R 4161 broad.mit.edu GRCh37 18 13825845 13825845 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000324750.3:c.81A>C p.Lys27Asn p.K27N ENST00000324750 NM_005913.2 27 aaA/aaC 0 Missense_Mutation A 1 MC5R SNP 18 A C 13815845 13815845 Broad LIPG 9388 broad.mit.edu GRCh37 18 47091836 47091836 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000261292.4:c.247G>A p.Ala83Thr p.A83T ENST00000261292 NM_006033.2 83 Gct/Act 0 Missense_Mutation G 34 LIPG SNP 18 G A 45345834 45345834 Broad TNFSF14 8740 broad.mit.edu GRCh37 19 6665098 6665098 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000599359.1:c.562G>A p.Gly188Arg p.G188R ENST00000599359 188 Gga/Aga 0 Missense_Mutation C 23 TNFSF14 SNP 19 C T 6616098 6616098 Broad UNC13A 23025 broad.mit.edu GRCh37 19 17756817 17756817 + synonymous_variant Silent SNP A A G novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000519716.2:c.2148T>C p.Tyr716= p.Y716= ENST00000519716 NM_001080421.2 716 taT/taC 0 Silent A 8 UNC13A SNP 19 A G 17617817 17617817 Broad ZNF570 148268 broad.mit.edu GRCh37 19 37976014 37976014 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000330173.1:c.1490C>T p.Pro497Leu p.P497L ENST00000330173 NM_144694.1 497 cCc/cTc 0 Missense_Mutation C 22 ZNF570 SNP 19 C T 42667854 42667854 Broad CYP2A7 1549 broad.mit.edu GRCh37 19 41383249 41383249 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000301146.4:c.1007G>C p.Gly336Ala p.G336A ENST00000301146 NM_000764.2 336 gGc/gCc 0 Missense_Mutation C 26 CYP2A7 SNP 19 C G 46075089 46075089 Broad ZC3H4 23211 broad.mit.edu GRCh37 19 47570553 47570553 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000253048.5:c.2972A>G p.Lys991Arg p.K991R ENST00000253048 NM_015168.1 991 aAg/aGg 0 Missense_Mutation T 56 ZC3H4 SNP 19 T C 52262393 52262393 Broad ZNF547 284306 broad.mit.edu GRCh37 19 57889170 57889170 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000282282.3:c.826T>G p.Phe276Val p.F276V ENST00000282282 NM_173631.2 276 Ttc/Gtc 0 Missense_Mutation T 60 ZNF547 SNP 19 T G 62580982 62580982 Broad TSGA10 80705 broad.mit.edu GRCh37 2 99688314 99688314 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000393483.3:c.962T>C p.Val321Ala p.V321A ENST00000393483 NM_025244.2 321 gTg/gCg 0 Missense_Mutation A 6 TSGA10 SNP 2 A G 99054746 99054746 Broad GLI2 2736 broad.mit.edu GRCh37 2 121747935 121747935 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000452319.1:c.4445G>T p.Ser1482Ile p.S1482I ENST00000452319 1482 aGc/aTc 0 Missense_Mutation G 34 GLI2 SNP 2 G T 121464405 121464405 Broad NCKAP5 344148 broad.mit.edu GRCh37 2 133542216 133542216 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000409261.1:c.2168G>C p.Arg723Thr p.R723T ENST00000409261 NM_207363.2 723 aGa/aCa 0 Missense_Mutation C 32 NCKAP5 SNP 2 C G 133258686 133258686 Broad LCT 3938 broad.mit.edu GRCh37 2 136564711 136564711 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000264162.2:c.4160C>T p.Ser1387Phe p.S1387F ENST00000264162 NM_002299.2 1387 tCt/tTt 0 Missense_Mutation G 33 LCT SNP 2 G A 136281181 136281181 Broad RBM45 129831 broad.mit.edu GRCh37 2 178982796 178982796 + synonymous_variant Silent SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000286070.5:c.438C>T p.Ile146= p.I146= ENST00000286070 NM_152945.2 146 atC/atT 0 Silent C 31 RBM45 SNP 2 C T 178691042 178691042 Broad RBM44 375316 broad.mit.edu GRCh37 2 238722286 238722286 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000316997.4:c.37G>C p.Gly13Arg p.G13R ENST00000316997 NM_001080504.2 13 Ggt/Cgt 0 Missense_Mutation G 47 RBM44 SNP 2 G C 238387025 238387025 Broad PLCB4 5332 broad.mit.edu GRCh37 20 9346157 9346157 + synonymous_variant Silent SNP A A C novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000378501.2:c.499A>C p.Arg167= p.R167= ENST00000378501 NM_000933.3 167 Agg/Cgg 0 Silent A 15 PLCB4 SNP 20 A C 9294157 9294157 Broad JAG1 182 broad.mit.edu GRCh37 20 10622147 10622147 + synonymous_variant Silent SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000254958.5:c.2877G>A p.Ala959= p.A959= ENST00000254958 NM_000214.2 959 gcG/gcA 0 Silent C 31 JAG1 SNP 20 C T 10570147 10570147 Broad PCSK2 5126 broad.mit.edu GRCh37 20 17434520 17434520 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000262545.2:c.1019C>T p.Thr340Ile p.T340I ENST00000262545 NM_002594.3 340 aCt/aTt 0 Missense_Mutation C 20 PCSK2 SNP 20 C T 17382520 17382520 Broad SUN2 25777 broad.mit.edu GRCh37 22 39145811 39145811 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000405018.1:c.637A>C p.Thr213Pro p.T213P ENST00000405018 NM_001199579.1 213 Acc/Ccc 0 Missense_Mutation T 58 SUN2 SNP 22 T G 37475757 37475757 Broad HHATL 57467 broad.mit.edu GRCh37 3 42739827 42739827 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000441594.1:c.500G>A p.Gly167Asp p.G167D ENST00000441594 NM_020707.3 167 gGc/gAc 0 Missense_Mutation C 26 HHATL SNP 3 C T 42714831 42714831 Broad ATRIP 84126 broad.mit.edu GRCh37 3 48501706 48501706 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000320211.3:c.1253A>G p.His418Arg p.H418R ENST00000320211 NM_130384.2 418 cAt/cGt 0 Missense_Mutation A 8 ATRIP SNP 3 A G 48476710 48476710 Broad ZMYND10 51364 broad.mit.edu GRCh37 3 50382649 50382649 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000231749.3:c.107A>G p.His36Arg p.H36R ENST00000231749 NM_015896.2 36 cAt/cGt 0 Missense_Mutation T 51 ZMYND10 SNP 3 T C 50357653 50357653 Broad APOD 347 broad.mit.edu GRCh37 3 195295826 195295826 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000343267.3:c.515T>C p.Ile172Thr p.I172T ENST00000343267 NM_001647.3 172 aTt/aCt 0 Missense_Mutation A 4 APOD SNP 3 A G 196777115 196777115 Broad JAKMIP1 152789 broad.mit.edu GRCh37 4 6086641 6086641 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000409021.3:c.886G>A p.Glu296Lys p.E296K ENST00000409021 NM_001099433.1 296 Gaa/Aaa 0 Missense_Mutation C 29 JAKMIP1 SNP 4 C T 6137542 6137542 Broad LARP7 51574 broad.mit.edu GRCh37 4 113571627 113571627 + synonymous_variant Silent SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000509061.1:c.1326G>A p.Arg442= p.R442= ENST00000509061 NM_001267039.1 442 agG/agA 0 Silent G 43 LARP7 SNP 4 G A 113791076 113791076 Broad RNF150 57484 broad.mit.edu GRCh37 4 141889014 141889014 + synonymous_variant Silent SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000515673.2:c.498C>T p.Ile166= p.I166= ENST00000515673 166 atC/atT 0 Silent G 37 RNF150 SNP 4 G A 142108464 142108464 Broad MAST4 375449 broad.mit.edu GRCh37 5 66084575 66084575 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000403625.2:c.595C>T p.Arg199Cys p.R199C ENST00000403625 NM_001164664.1 199 Cgc/Tgc 0 Missense_Mutation C 27 MAST4 SNP 5 C T 66120331 66120331 Broad LMNB1 4001 broad.mit.edu GRCh37 5 126168474 126168474 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000261366.5:c.1700A>G p.Glu567Gly p.E567G ENST00000261366 NM_001198557.1 567 gAa/gGa 0 Missense_Mutation A 9 LMNB1 SNP 5 A G 126196373 126196373 Broad WDR55 54853 broad.mit.edu GRCh37 5 140044502 140044502 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000358337.5:c.5A>C p.Asp2Ala p.D2A ENST00000358337 NM_017706.4 2 gAc/gCc 0 Missense_Mutation A 10 WDR55 SNP 5 A C 140024686 140024686 Broad FAT2 2196 broad.mit.edu GRCh37 5 150922494 150922494 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000261800.5:c.8194C>G p.Pro2732Ala p.P2732A ENST00000261800 NM_001447.2 2732 Cct/Gct 0 Missense_Mutation G 44 FAT2 SNP 5 G C 150902687 150902687 Broad EHMT2 10919 broad.mit.edu GRCh37 6 31855630 31855630 + synonymous_variant Silent SNP A A C novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000375537.4:c.1854T>G p.Leu618= p.L618= ENST00000375537 NM_006709.3 618 ctT/ctG 0 Silent A 1 EHMT2 SNP 6 A C 31963609 31963609 Broad ABCC10 89845 broad.mit.edu GRCh37 6 43412975 43412975 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000372530.4:c.2953C>T p.Arg985Trp p.R985W ENST00000372530 NM_001198934.1 985 Cgg/Tgg 0 Missense_Mutation C 23 ABCC10 SNP 6 C T 43520953 43520953 Broad SOGA3 387104 broad.mit.edu GRCh37 6 127797200 127797200 + synonymous_variant,NMD_transcript_variant Silent SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000481848.2:c.1971G>A p.Glu657= p.E657= ENST00000481848 657 gaG/gaA 0 Silent C 28 C6orf174 SNP 6 C T 127838893 127838893 Broad PHACTR2 9749 broad.mit.edu GRCh37 6 144086568 144086568 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000440869.2:c.865C>T p.His289Tyr p.H289Y ENST00000440869 NM_001100164.1 289 Cac/Tac 0 Missense_Mutation C 29 PHACTR2 SNP 6 C T 144128261 144128261 Broad MACC1 346389 broad.mit.edu GRCh37 7 20197898 20197898 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000400331.5:c.2086G>A p.Val696Ile p.V696I ENST00000400331 NM_182762.3 696 Gtt/Att 0 Missense_Mutation C 17 MACC1 SNP 7 C T 20164423 20164423 Broad HERPUD2 64224 broad.mit.edu GRCh37 7 35709888 35709888 + synonymous_variant Silent SNP G G C novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000396081.1:c.276C>G p.Pro92= p.P92= ENST00000396081 NM_022373.4 92 ccC/ccG 0 Silent G 47 HERPUD2 SNP 7 G C 35676413 35676413 Broad LOXL2 4017 broad.mit.edu GRCh37 8 23225781 23225781 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000389131.3:c.84C>A p.Asp28Glu p.D28E ENST00000389131 NM_002318.2 28 gaC/gaA 0 Missense_Mutation G 48 LOXL2 SNP 8 G T 23281726 23281726 Broad RIMS2 9699 broad.mit.edu GRCh37 8 104943609 104943609 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000406091.3:c.2363T>C p.Leu788Pro p.L788P ENST00000406091 NM_001100117.2 788 cTt/cCt 0 Missense_Mutation T 56 RIMS2 SNP 8 T C 105012785 105012785 Broad EXT1 2131 broad.mit.edu GRCh37 8 119122833 119122833 + synonymous_variant Silent SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000378204.2:c.453G>A p.Ala151= p.A151= ENST00000378204 NM_000127.2 151 gcG/gcA 0 Silent C 19 EXT1 SNP 8 C T 119192014 119192014 Broad ZNF572 137209 broad.mit.edu GRCh37 8 125989760 125989760 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000319286.5:c.1250G>C p.Cys417Ser p.C417S ENST00000319286 NM_152412.2 417 tGc/tCc 0 Missense_Mutation G 46 ZNF572 SNP 8 G C 126058941 126058941 Broad COL22A1 169044 broad.mit.edu GRCh37 8 139890117 139890117 + synonymous_variant Silent SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000303045.6:c.534C>T p.Gly178= p.G178= ENST00000303045 NM_152888.1 178 ggC/ggT 0 Silent G 38 COL22A1 SNP 8 G A 139959299 139959299 Broad SLC45A4 57210 broad.mit.edu GRCh37 8 142227244 142227244 + synonymous_variant Silent SNP G G A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000024061.3:c.1521C>T p.Val507= p.V507= ENST00000024061 NM_001080431.1 507 gtC/gtT 0 Silent G 45 SLC45A4 SNP 8 G A 142296426 142296426 Broad BAI1 575 broad.mit.edu GRCh37 8 143570761 143570761 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000517894.1:c.2593C>T p.Arg865Cys p.R865C ENST00000517894 865 Cgc/Tgc 0 Missense_Mutation C 27 BAI1 SNP 8 C T 143567763 143567763 Broad HAUS6 54801 broad.mit.edu GRCh37 9 19058102 19058102 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000380502.3:c.2663A>T p.His888Leu p.H888L ENST00000380502 NM_017645.4 888 cAt/cTt 0 Missense_Mutation T 51 HAUS6 SNP 9 T A 19048102 19048102 Broad TMC1 117531 broad.mit.edu GRCh37 9 75435853 75435853 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000297784.5:c.1859A>G p.Asn620Ser p.N620S ENST00000297784 NM_138691.2 620 aAt/aGt 0 Missense_Mutation A 4 TMC1 SNP 9 A G 74625673 74625673 Broad OR13C8 138802 broad.mit.edu GRCh37 9 107332186 107332186 + synonymous_variant Silent SNP A A C novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000335040.1:c.738A>C p.Thr246= p.T246= ENST00000335040 NM_001004483.1 246 acA/acC 0 Silent A 7 OR13C8 SNP 9 A C 106372007 106372007 Broad CCNB3 85417 broad.mit.edu GRCh37 X 50052251 50052251 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000376042.1:c.1082C>T p.Ser361Phe p.S361F ENST00000376042 361 tCc/tTc 0 Missense_Mutation C 30 CCNB3 SNP 23 C T 50068991 50068991 Broad NOX1 27035 broad.mit.edu GRCh37 X 100117188 100117188 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown x x x ENST00000372966.3:c.776G>T p.Arg259Leu p.R259L ENST00000372966 NM_001271815.1 259 cGc/cTc 0 Missense_Mutation C 27 NOX1 SNP 23 C A 100003844 100003844 Broad FAM19A3 284467 broad.mit.edu GRCh37 1 113265686 113265709 + inframe_deletion In_Frame_Del DEL GCAACCGGAACCGCATCGAGGAGC GCAACCGGAACCGCATCGAGGAGC - novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000369630.3:c.166_189del p.Asn56_Arg63del p.N56_R63del ENST00000369630 55 tGCAACCGGAACCGCATCGAGGAGCgc/tgc 0 In_Frame_Del GCAACCGGAACCGCATCGAGGAGC 46 FAM19A3 DEL 1 - GCAACCGGAACCGCATCGAGGAGC 113067232 113067209 Broad TWSG1 57045 broad.mit.edu GRCh37 18 9396353 9396368 + frameshift_variant Frame_Shift_Del DEL TCCCTTCTCTCTTCCG TCCCTTCTCTCTTCCG - novel Unknown TCGA-20-0991-01 TCGA-20-0991-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000262120.5:c.299_314del p.Ile100ArgfsTer10 p.I100Rfs*10 ENST00000262120 NM_020648.5 100 aTCCCTTCTCTCTTCCGg/ag 0 Frame_Shift_Del TCCCTTCTCTCTTCCG 50 TWSG1 DEL 18 - TCCCTTCTCTCTTCCG 9386368 9386353 Broad OR4F5 79501 genome.wustl.edu GRCh37 1 69538 69538 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000335137.3:c.448G>A p.Val150Met p.V150M ENST00000335137 NM_001005484.1 150 Gtg/Atg 0 Missense_Mutation G 44 OR4F5 SNP 1 A A 59401 59401 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578290 7578290 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.560-1G>C p.X187_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 24 TP53 SNP 17 G G 7519015 7519015 WashU MYH10 4628 genome.wustl.edu GRCh37 17 8396296 8396296 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360416.3:c.4256A>G p.Glu1419Gly p.E1419G ENST00000360416 NM_001256012.1 1419 gAa/gGa 0 Missense_Mutation T 62 MYH10 SNP 17 T C 8337021 8337021 WashU OR7G3 390883 genome.wustl.edu GRCh37 19 9237569 9237569 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000305444.2:c.58G>T p.Asp20Tyr p.D20Y ENST00000305444 NM_001001958.1 20 Gat/Tat 0 Missense_Mutation C 30 OR7G3 SNP 19 C A 9098569 9098569 WashU BTBD3 22903 genome.wustl.edu GRCh37 20 11904279 11904279 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405977.1:c.1534G>A p.Gly512Arg p.G512R ENST00000405977 NM_001282554.1 512 Gga/Aga 0 Missense_Mutation G 43 BTBD3 SNP 20 G A 11852279 11852279 WashU GRIN2B 2904 genome.wustl.edu GRCh37 12 13768146 13768146 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000609686.1:c.1556G>A p.Arg519Gln p.R519Q ENST00000609686 NM_000834.3 519 cGa/cAa 0 Missense_Mutation C 31 GRIN2B SNP 12 C T 13659413 13659413 WashU ANKRD30B 374860 genome.wustl.edu GRCh37 18 14782535 14782535 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358984.4:c.1492G>T p.Glu498Ter p.E498* ENST00000358984 NM_001145029.1 498 Gag/Tag 0 Nonsense_Mutation G 45 ANKRD30B SNP 18 G T 14772535 14772535 WashU NBPF3 84224 genome.wustl.edu GRCh37 1 21798254 21798254 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318249.5:c.639C>G p.His213Gln p.H213Q ENST00000318249 NM_032264.4 213 caC/caG 0 Missense_Mutation C 18 NBPF3 SNP 1 C G 21670841 21670841 WashU NYNRIN 57523 genome.wustl.edu GRCh37 14 24877706 24877706 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382554.3:c.830C>T p.Pro277Leu p.P277L ENST00000382554 NM_025081.2 277 cCg/cTg 0 Missense_Mutation C 23 NYNRIN SNP 14 C T 23947546 23947546 WashU DSC1 1823 genome.wustl.edu GRCh37 18 28714698 28714698 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257198.5:c.1713C>A p.Asn571Lys p.N571K ENST00000257198 NM_024421.2 571 aaC/aaA 0 Missense_Mutation G 40 DSC1 SNP 18 G T 26968696 26968696 WashU OR5V1 81696 genome.wustl.edu GRCh37 6 29323463 29323463 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377154.1:c.510C>T p.Gly170= p.G170= ENST00000377154 170 ggC/ggT 0 Silent G 46 OR5V1 SNP 6 G A 29431442 29431442 WashU SON 6651 genome.wustl.edu GRCh37 21 34926420 34926420 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356577.4:c.4883T>A p.Val1628Asp p.V1628D ENST00000356577 NM_138927.2 1628 gTt/gAt 0 Missense_Mutation T 60 SON SNP 21 T A 33848290 33848290 WashU ANKRD30A 91074 genome.wustl.edu GRCh37 10 37486216 37486216 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361713.1:c.2454C>T p.Pro818= p.P818= ENST00000361713 NM_052997.2 818 ccC/ccT 0 Silent C 23 ANKRD30A SNP 10 C T 37526222 37526222 WashU CYP1B1 1545 genome.wustl.edu GRCh37 2 38298138 38298138 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260630.3:c.1359C>G p.Asn453Lys p.N453K ENST00000260630 NM_000104.3 453 aaC/aaG 0 Missense_Mutation G 48 CYP1B1 SNP 2 G C 38151642 38151642 WashU LCP1 3936 genome.wustl.edu GRCh37 13 46716516 46716516 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398576.2:c.1413G>A p.Ala471= p.A471= ENST00000398576 471 gcG/gcA 0 Silent C 31 LCP1 SNP 13 C T 45614517 45614517 WashU GABRA2 2555 genome.wustl.edu GRCh37 4 46252524 46252524 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000510861.1:c.1157C>G p.Thr386Ser p.T386S ENST00000510861 386 aCc/aGc 0 Missense_Mutation G 44 GABRA2 SNP 4 G C 45947281 45947281 WashU KRT1 3848 genome.wustl.edu GRCh37 12 53072390 53072390 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000252244.3:c.742G>A p.Asp248Asn p.D248N ENST00000252244 NM_006121.3 248 Gat/Aat 0 Missense_Mutation C 29 KRT1 SNP 12 C T 51358657 51358657 WashU PRTG 283659 genome.wustl.edu GRCh37 15 56032827 56032827 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389286.4:c.150C>T p.Val50= p.V50= ENST00000389286 NM_173814.4 50 gtC/gtT 0 Silent G 45 PRTG SNP 15 G A 53820119 53820119 WashU PHACTR3 116154 genome.wustl.edu GRCh37 20 58318324 58318324 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371015.1:c.280+1G>A p.X94_splice ENST00000371015 NM_080672.4 0 Splice_Site_SNP G 44 PHACTR3 SNP 20 G A 57751719 57751719 WashU HTR1A 3350 genome.wustl.edu GRCh37 5 63256867 63256867 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000323865.3:c.680G>A p.Arg227His p.R227H ENST00000323865 NM_000524.3 227 cGc/cAc 0 Missense_Mutation C 27 HTR1A SNP 5 C T 63292623 63292623 WashU SLC7A6OS 84138 genome.wustl.edu GRCh37 16 68338020 68338020 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263997.6:c.587A>G p.Tyr196Cys p.Y196C ENST00000263997 NM_032178.2 196 tAt/tGt 0 Missense_Mutation T 49 SLC7A6OS SNP 16 C C 66895521 66895521 WashU MCMDC2 157777 genome.wustl.edu GRCh37 8 67789597 67789597 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422365.2:c.299T>G p.Leu100Arg p.L100R ENST00000422365 NM_173518.4 100 cTg/cGg 0 Missense_Mutation T 55 C8orf45 SNP 8 T G 67952151 67952151 WashU UGT2B10 7365 genome.wustl.edu GRCh37 4 69693267 69693267 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265403.7:c.1307+1G>C p.X436_splice ENST00000265403 NM_001075.4 0 Splice_Site_SNP G 40 UGT2B10 SNP 4 G C 69727856 69727856 WashU POLD3 10714 genome.wustl.edu GRCh37 11 74347268 74347268 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263681.2:c.1146A>C p.Lys382Asn p.K382N ENST00000263681 NM_006591.2 382 aaA/aaC 0 Missense_Mutation A 2 POLD3 SNP 11 A C 74024916 74024916 WashU WHAMM 123720 genome.wustl.edu GRCh37 15 83499813 83499813 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286760.4:c.2104G>T p.Glu702Ter p.E702* ENST00000286760 NM_001080435.1 702 Gaa/Taa 0 Nonsense_Mutation G 41 WHAMM SNP 15 G T 81296867 81296867 WashU WHAMM 123720 genome.wustl.edu GRCh37 15 83502192 83502192 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286760.4:c.2334G>A p.Glu778= p.E778= ENST00000286760 NM_001080435.1 778 gaG/gaA 0 Silent G 33 WHAMM SNP 15 G A 81299246 81299246 WashU RNLS 55328 genome.wustl.edu GRCh37 10 90122431 90122431 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331772.4:c.578G>C p.Arg193Pro p.R193P ENST00000331772 NM_001031709.2 193 cGa/cCa 0 Missense_Mutation C 31 RNLS SNP 10 C G 90112411 90112411 WashU ENTPD1 953 genome.wustl.edu GRCh37 10 97599531 97599531 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371207.3:c.264C>T p.Gly88= p.G88= ENST00000371207 NM_001164178.1 88 ggC/ggT 0 Silent C 27 ENTPD1 SNP 10 C T 97589521 97589521 WashU OR5H2 79310 genome.wustl.edu GRCh37 3 98001940 98001940 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355273.2:c.209G>T p.Ser70Ile p.S70I ENST00000355273 NM_001005482.1 70 aGt/aTt 0 Missense_Mutation G 36 OR5H2 SNP 3 G T 99484630 99484630 WashU MYO16 23026 genome.wustl.edu GRCh37 13 109777500 109777500 + synonymous_variant Silent SNP A A G novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356711.2:c.3510A>G p.Arg1170= p.R1170= ENST00000356711 NM_015011.1 1170 agA/agG 0 Silent A 9 MYO16 SNP 13 A G 108575501 108575501 WashU CSDE1 7812 genome.wustl.edu GRCh37 1 115282409 115282409 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000438362.2:c.241A>C p.Thr81Pro p.T81P ENST00000438362 NM_001242891.1 81 Acc/Ccc 0 Missense_Mutation T 60 CSDE1 SNP 1 T G 115083932 115083932 WashU ROS1 6098 genome.wustl.edu GRCh37 6 117631362 117631362 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368508.3:c.6316G>A p.Ala2106Thr p.A2106T ENST00000368508 NM_002944.2 2106 Gcc/Acc 0 Missense_Mutation C 27 ROS1 SNP 6 T T 117738055 117738055 WashU PNLIP 5406 genome.wustl.edu GRCh37 10 118318717 118318717 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369221.2:c.982G>A p.Ala328Thr p.A328T ENST00000369221 NM_000936.2 328 Gct/Act 0 Missense_Mutation G 46 PNLIP SNP 10 G A 118308707 118308707 WashU DAB2IP 153090 genome.wustl.edu GRCh37 9 124521255 124521255 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000259371.2:c.511C>T p.Arg171Ter p.R171* ENST00000259371 NM_032552.2 171 Cga/Tga 0 Nonsense_Mutation C 27 DAB2IP SNP 9 C T 123561076 123561076 WashU SPRY1 10252 genome.wustl.edu GRCh37 4 124323351 124323351 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394339.2:c.605T>C p.Leu202Ser p.L202S ENST00000394339 NM_005841.2 202 tTg/tCg 0 Missense_Mutation T 63 SPRY1 SNP 4 T C 124542801 124542801 WashU AKR1B1 231 genome.wustl.edu GRCh37 7 134132106 134132106 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000285930.4:c.769A>G p.Asn257Asp p.N257D ENST00000285930 NM_001628.2 257 Aac/Gac 0 Missense_Mutation T 62 AKR1B1 SNP 7 T C 133782646 133782646 WashU PCDHA9 9752 genome.wustl.edu GRCh37 5 140228182 140228182 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000532602.1:c.102C>T p.Ser34= p.S34= ENST00000532602 NM_031857.1 34 tcC/tcT 0 Silent C 23 PCDHA9 SNP 5 C T 140208366 140208366 WashU PCDHGA12 26025 genome.wustl.edu GRCh37 5 140810709 140810709 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000252085.3:c.383A>G p.Asp128Gly p.D128G ENST00000252085 NM_003735.2 128 gAc/gGc 0 Missense_Mutation A 10 PCDHGA12 SNP 5 A G 140790893 140790893 WashU PRPF3 9129 genome.wustl.edu GRCh37 1 150307613 150307613 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324862.6:c.936C>A p.Asp312Glu p.D312E ENST00000324862 NM_004698.2 312 gaC/gaA 0 Missense_Mutation C 18 PRPF3 SNP 1 C A 148574237 148574237 WashU KMT2C 58508 genome.wustl.edu GRCh37 7 151851206 151851206 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262189.6:c.12165C>T p.Ile4055= p.I4055= ENST00000262189 NM_170606.2 4055 atC/atT 0 Silent G 45 MLL3 SNP 7 G A 151482139 151482139 WashU FCRL5 83416 genome.wustl.edu GRCh37 1 157497673 157497673 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361835.3:c.1694G>A p.Arg565His p.R565H ENST00000361835 NM_001195388.1 565 cGc/cAc 0 Missense_Mutation C 27 FCRL5 SNP 1 C T 155764297 155764297 WashU SPTA1 6708 genome.wustl.edu GRCh37 1 158606539 158606539 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368147.4:c.5202A>G p.Ile1734Met p.I1734M ENST00000368147 NM_003126.2 1734 atA/atG 0 Missense_Mutation T 57 SPTA1 SNP 1 T C 156873163 156873163 WashU CLCN3 1182 genome.wustl.edu GRCh37 4 170634429 170634429 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000347613.4:c.2349C>G p.Cys783Trp p.C783W ENST00000347613 NM_173872.3 783 tgC/tgG 0 Missense_Mutation C 26 CLCN3 SNP 4 C G 170871004 170871004 WashU TTN 7273 genome.wustl.edu GRCh37 2 179397440 179397440 + synonymous_variant Silent SNP T T C novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.103902A>G p.Pro34634= p.P34634= ENST00000589042 NM_001267550.1 34634 ccA/ccG 0 Missense_Mutation T 55 TTN SNP 2 T C 179105686 179105686 WashU COL3A1 1281 genome.wustl.edu GRCh37 2 189873731 189873731 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304636.3:c.3607G>A p.Ala1203Thr p.A1203T ENST00000304636 NM_000090.3 1203 Gct/Act 0 Missense_Mutation G 38 COL3A1 SNP 2 G A 189581976 189581976 WashU ITPR2 3709 genome.wustl.edu GRCh37 12 26985673 26985673 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381340.3:c.42C>G p.Ile14Met p.I14M ENST00000381340 NM_002223.2 14 atC/atG 0 Missense_Mutation G 37 ITPR2 SNP 12 G C 26876940 26876940 WashU RTN2 6253 genome.wustl.edu GRCh37 19 45992653 45992653 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000245923.4:c.1192C>T p.Arg398Cys p.R398C ENST00000245923 NM_005619.4 398 Cgc/Tgc 0 Missense_Mutation G 39 RTN2 SNP 19 G A 50684493 50684493 WashU ZFX 7543 genome.wustl.edu GRCh37 X 24226376 24226376 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0935-01 TCGA-10-0935-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379177.1:c.982G>A p.Val328Ile p.V328I ENST00000379177 NM_003410.3 328 Gta/Ata 0 Missense_Mutation G 40 ZFX SNP 23 G A 24136297 24136297 WashU ARID1A 8289 hgsc.bcm.edu GRCh37 1 27089611 27089611 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000324856.7:c.2567G>T p.Gly856Val p.G856V ENST00000324856 NM_006015.4 856 gGg/gTg 0 Missense_Mutation G 43 ARID1A SNP 1 G T 26962198 26962198 Baylor BRPF1 7862 hgsc.bcm.edu GRCh37 3 9781506 9781506 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000383829.2:c.1423G>C p.Gly475Arg p.G475R ENST00000383829 NM_001003694.1 475 Ggt/Cgt 0 Missense_Mutation G 43 BRPF1 SNP 3 G C 9756506 9756506 Baylor CHD6 84181 hgsc.bcm.edu GRCh37 20 40112056 40112056 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373233.3:c.2361G>A p.Leu787= p.L787= ENST00000373233 NM_032221.4 787 ttG/ttA 0 Silent C 29 CHD6 SNP 20 C T 39545470 39545470 Baylor DYX1C1 161582 hgsc.bcm.edu GRCh37 15 55759242 55759242 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000321149.3:c.523delA p.Ile175PhefsTer21 p.I175Ffs*21 ENST00000321149 NM_130810.3 175 Att/tt 0 Frame_Shift_Del T 52 DYX1C1 DEL 15 T - 53546534 53546534 Baylor FAM124B 79843 hgsc.bcm.edu GRCh37 2 225266248 225266248 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000409685.3:c.238G>T p.Asp80Tyr p.D80Y ENST00000409685 NM_001122779.1 80 Gat/Tat 0 Missense_Mutation C 30 FAM124B SNP 2 C A 224974492 224974492 Baylor FASTKD2 22868 hgsc.bcm.edu GRCh37 2 207652688 207652688 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000236980.6:c.1622A>G p.His541Arg p.H541R ENST00000236980 NM_014929.3 541 cAt/cGt 0 Missense_Mutation A 8 FASTKD2 SNP 2 A G 207360933 207360933 Baylor GLT8D2 83468 hgsc.bcm.edu GRCh37 12 104397084 104397084 + missense_variant,splice_region_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360814.4:c.113A>C p.Asp38Ala p.D38A ENST00000360814 NM_031302.3 38 gAt/gCt 0 Missense_Mutation T 50 GLT8D2 SNP 12 T G 102921214 102921214 Baylor GRM1 2911 hgsc.bcm.edu GRCh37 6 146350692 146350692 + synonymous_variant Silent SNP T T C novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361719.2:c.39T>C p.Phe13= p.F13= ENST00000361719 13 ttT/ttC 0 Silent T 64 GRM1 SNP 6 T C 146392385 146392385 Baylor GTF2IRD1 9569 hgsc.bcm.edu GRCh37 7 73944105 73944105 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000455841.2:c.1228C>T p.Arg410Trp p.R410W ENST00000455841 NM_001199207.1 410 Cgg/Tgg 0 Missense_Mutation C 23 GTF2IRD1 SNP 7 C T 73582041 73582041 Baylor MADD 8567 hgsc.bcm.edu GRCh37 11 47350684 47350684 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311027.5:c.4927C>T p.Arg1643Trp p.R1643W ENST00000311027 NM_003682.3 1643 Cgg/Tgg 0 Missense_Mutation C 23 MADD SNP 11 C T 47307260 47307260 Baylor MEN1 4221 hgsc.bcm.edu GRCh37 11 64573219 64573219 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000337652.1:c.1088A>G p.Glu363Gly p.E363G ENST00000337652 NM_130803.2 363 gAg/gGg 0 Missense_Mutation T 54 MEN1 SNP 11 T C 64329795 64329795 Baylor NANS 54187 hgsc.bcm.edu GRCh37 9 100845218 100845218 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000210444.5:c.962del p.Gly321AlafsTer10 p.G321Afs*10 ENST00000210444 NM_018946.3 321 Ggc/gc 0 Frame_Shift_Del G 35 NANS DEL 9 G - 99885039 99885039 Baylor OLR1 4973 hgsc.bcm.edu GRCh37 12 10319539 10319539 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000309539.3:c.196C>T p.Leu66Phe p.L66F ENST00000309539 NM_002543.3 66 Ctc/Ttc 0 Missense_Mutation G 35 OLR1 SNP 12 G A 10210806 10210806 Baylor PGBD1 84547 hgsc.bcm.edu GRCh37 6 28269965 28269965 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000405948.2:c.2334C>T p.His778= p.H778= ENST00000405948 NM_001184743.1 778 caC/caT 0 Silent C 17 PGBD1 SNP 6 C T 28377944 28377944 Baylor PPIL2 23759 hgsc.bcm.edu GRCh37 22 22036752 22036752 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000412327.1:c.414C>T p.Ala138= p.A138= ENST00000412327 NM_148176.2 138 gcC/gcT 0 Silent C 21 PPIL2 SNP 22 C T 20366752 20366752 Baylor PRKCQ 5588 hgsc.bcm.edu GRCh37 10 6533664 6533664 + synonymous_variant Silent SNP C C A novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263125.5:c.771G>T p.Arg257= p.R257= ENST00000263125 NM_006257.3 257 cgG/cgT 0 Silent C 26 PRKCQ SNP 10 C A 6573670 6573670 Baylor RREB1 6239 hgsc.bcm.edu GRCh37 6 7226816 7226816 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000379938.2:c.824C>A p.Pro275His p.P275H ENST00000379938 NM_001003700.1 275 cCt/cAt 0 Missense_Mutation C 24 RREB1 SNP 6 C A 7171815 7171815 Baylor SAMD9L 219285 hgsc.bcm.edu GRCh37 7 92765125 92765125 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000318238.4:c.160G>A p.Asp54Asn p.D54N ENST00000318238 NM_152703.2 54 Gac/Aac 0 Missense_Mutation C 30 SAMD9L SNP 7 C T 92603061 92603061 Baylor SQRDL 58472 hgsc.bcm.edu GRCh37 15 45954156 45954156 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000260324.7:c.238C>T p.His80Tyr p.H80Y ENST00000260324 NM_021199.3 80 Cat/Tat 0 Missense_Mutation C 17 SQRDL SNP 15 C T 43741448 43741448 Baylor TIGD6 81789 hgsc.bcm.edu GRCh37 5 149374880 149374880 + synonymous_variant Silent SNP T T C novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000296736.3:c.1032A>G p.Gln344= p.Q344= ENST00000296736 NM_030953.3 344 caA/caG 0 Silent T 56 TIGD6 SNP 5 T C 149355073 149355073 Baylor TIMD4 91937 hgsc.bcm.edu GRCh37 5 156353323 156353323 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000274532.2:c.845C>A p.Ala282Glu p.A282E ENST00000274532 NM_138379.2 282 gCa/gAa 0 Missense_Mutation G 46 TIMD4 SNP 5 G T 156285901 156285901 Baylor TTC29 83894 hgsc.bcm.edu GRCh37 4 147724801 147724801 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000325106.4:c.1138del p.Ala380LeufsTer6 p.A380Lfs*6 ENST00000325106 NM_031956.2 380 Gct/ct 0 Frame_Shift_Del C 28 TTC29 DEL 4 C - 147944251 147944251 Baylor UBR5 51366 hgsc.bcm.edu GRCh37 8 103354864 103354864 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 T T T G T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000520539.1:c.935A>C p.Glu312Ala p.E312A ENST00000520539 NM_015902.5 312 gAa/gCa 0 Missense_Mutation T 62 UBR5 SNP 8 T G 103424040 103424040 Baylor USH2A 7399 hgsc.bcm.edu GRCh37 1 216062067 216062067 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000307340.3:c.7924A>T p.Ile2642Leu p.I2642L ENST00000307340 NM_206933.2 2642 Ata/Tta 0 Missense_Mutation T 49 USH2A SNP 1 T A 214128690 214128690 Baylor WDR60 55112 hgsc.bcm.edu GRCh37 7 158704350 158704350 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000407559.3:c.1570G>C p.Gly524Arg p.G524R ENST00000407559 NM_018051.4 524 Ggg/Cgg 0 Missense_Mutation G 47 WDR60 SNP 7 G C 158397111 158397111 Baylor XIRP2 129446 hgsc.bcm.edu GRCh37 2 167992543 167992543 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000409195.1:c.533C>A p.Pro178His p.P178H ENST00000409195 NM_152381.5 178 cCt/cAt 0 Missense_Mutation C 24 XIRP2 SNP 2 C A 167700789 167700789 Baylor ZBTB16 7704 hgsc.bcm.edu GRCh37 11 113934217 113934217 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000335953.4:c.195C>T p.Arg65= p.R65= ENST00000335953 NM_006006.4 65 cgC/cgT 0 Silent C 25 ZBTB16 SNP 11 C T 113439427 113439427 Baylor ZNF155 7711 hgsc.bcm.edu GRCh37 19 44501456 44501456 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0927-01 TCGA-10-0927-11 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000407951.2:c.1480C>A p.Pro494Thr p.P494T ENST00000407951 NM_001260488.1 494 Cca/Aca 0 Missense_Mutation C 18 ZNF155 SNP 19 C A 49193296 49193296 Baylor CELA2A 63036 broad.mit.edu GRCh37 1 15793978 15793978 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000359621.4:c.737A>G p.Tyr246Cys p.Y246C ENST00000359621 NM_033440.2 246 tAc/tGc 0 Missense_Mutation A 14 CELA2A SNP 1 A G 15666565 15666565 Broad GRIK3 2899 broad.mit.edu GRCh37 1 37346392 37346392 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000373091.3:c.393C>T p.Pro131= p.P131= ENST00000373091 NM_000831.3 131 ccC/ccT 0 Silent G 43 GRIK3 SNP 1 G A 37118979 37118979 Broad RPS8 6202 broad.mit.edu GRCh37 1 45243434 45243434 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000396651.3:c.360C>T p.Pro120= p.P120= ENST00000396651 120 ccC/ccT 0 Silent C 22 RPS8 SNP 1 C T 45016021 45016021 Broad BEST4 266675 broad.mit.edu GRCh37 1 45250854 45250854 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000372207.3:c.838G>C p.Ala280Pro p.A280P ENST00000372207 NM_153274.2 280 Gcc/Ccc 0 Missense_Mutation C 28 BEST4 SNP 1 C G 45023441 45023441 Broad CDKN2C 1031 broad.mit.edu GRCh37 1 51436162 51436162 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000262662.1:c.122C>G p.Ala41Gly p.A41G ENST00000262662 41 gCg/gGg 0 Missense_Mutation C 27 CDKN2C SNP 1 C G 51208750 51208750 Broad NEXN 91624 broad.mit.edu GRCh37 1 78383348 78383348 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000334785.7:c.125G>T p.Arg42Met p.R42M ENST00000334785 NM_144573.3 42 aGg/aTg 0 Missense_Mutation G 35 NEXN SNP 1 G T 78155936 78155936 Broad MCOLN2 255231 broad.mit.edu GRCh37 1 85397190 85397190 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000370608.3:c.1397T>C p.Phe466Ser p.F466S ENST00000370608 NM_153259.2 466 tTt/tCt 0 Missense_Mutation A 1 MCOLN2 SNP 1 A G 85169778 85169778 Broad LRRC39 127495 broad.mit.edu GRCh37 1 100626046 100626046 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000370138.1:c.195G>A p.Leu65= p.L65= ENST00000370138 NM_001256385.1 65 ttG/ttA 0 Silent C 29 LRRC39 SNP 1 C T 100398634 100398634 Broad CD101 9398 broad.mit.edu GRCh37 1 117554416 117554416 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000256652.4:c.669G>C p.Gln223His p.Q223H ENST00000256652 NM_004258.5 223 caG/caC 0 Missense_Mutation G 34 CD101 SNP 1 G C 117355939 117355939 Broad HMCN1 83872 broad.mit.edu GRCh37 1 186034454 186034454 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000271588.4:c.7598G>A p.Arg2533His p.R2533H ENST00000271588 NM_031935.2 2533 cGt/cAt 0 Missense_Mutation G 40 HMCN1 SNP 1 G A 184301077 184301077 Broad B3GALT2 8707 broad.mit.edu GRCh37 1 193149686 193149686 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000367434.4:c.1007G>T p.Arg336Leu p.R336L ENST00000367434 NM_003783.3 336 cGt/cTt 0 Missense_Mutation C 19 B3GALT2 SNP 1 C A 191416309 191416309 Broad MGMT 4255 broad.mit.edu GRCh37 10 131506261 131506261 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000306010.7:c.321C>T p.Ile107= p.I107= ENST00000306010 NM_002412.3 107 atC/atT 0 Silent C 31 MGMT SNP 10 C T 131396251 131396251 Broad EFEMP2 30008 broad.mit.edu GRCh37 11 65635353 65635353 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000307998.6:c.1149G>A p.Ser383= p.S383= ENST00000307998 NM_016938.4 383 tcG/tcA 0 Silent C 27 EFEMP2 SNP 11 C T 65391929 65391929 Broad CACNA1C 775 broad.mit.edu GRCh37 12 2774755 2774755 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000347598.4:c.4551C>T p.Asn1517= p.N1517= ENST00000347598 NM_199460.2 1517 aaC/aaT 0 Silent C 18 CACNA1C SNP 12 C T 2645016 2645016 Broad ERGIC2 51290 broad.mit.edu GRCh37 12 29510635 29510635 + synonymous_variant Silent SNP T T G novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000360150.4:c.397A>C p.Arg133= p.R133= ENST00000360150 NM_016570.2 133 Agg/Cgg 0 Silent T 53 ERGIC2 SNP 12 T G 29401902 29401902 Broad MDM1 56890 broad.mit.edu GRCh37 12 68690735 68690735 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000303145.7:c.2000A>T p.Gln667Leu p.Q667L ENST00000303145 NM_017440.4 667 cAg/cTg 0 Missense_Mutation T 55 MDM1 SNP 12 T A 66977002 66977002 Broad CIT 11113 broad.mit.edu GRCh37 12 120135501 120135501 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000392521.2:c.5845G>A p.Gly1949Ser p.G1949S ENST00000392521 NM_001206999.1 1949 Ggc/Agc 0 Missense_Mutation C 23 CIT SNP 12 C T 118619884 118619884 Broad HCAR2 338442 broad.mit.edu GRCh37 12 123187813 123187813 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000328880.5:c.18G>A p.Leu6= p.L6= ENST00000328880 NM_177551.3 6 ctG/ctA 0 Silent C 25 GPR109A SNP 12 C T 121753766 121753766 Broad HCAR3 8843 broad.mit.edu GRCh37 12 123201267 123201267 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000528880.2:c.18G>A p.Leu6= p.L6= ENST00000528880 NM_006018.2 6 ctG/ctA 0 Silent C 25 NIACR2 SNP 12 C T 121767220 121767220 Broad TBC1D4 9882 broad.mit.edu GRCh37 13 75873642 75873642 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000377636.3:c.2980C>G p.Leu994Val p.L994V ENST00000377636 NM_014832.2 994 Ctc/Gtc 0 Missense_Mutation G 35 TBC1D4 SNP 13 G C 74771643 74771643 Broad RNASE9 390443 broad.mit.edu GRCh37 14 21024850 21024850 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000404716.3:c.394A>C p.Ile132Leu p.I132L ENST00000404716 NM_001110359.1 132 Att/Ctt 0 Missense_Mutation T 52 RNASE9 SNP 14 T G 20094690 20094690 Broad RSL24D1 51187 broad.mit.edu GRCh37 15 55475541 55475541 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000260443.4:c.390C>T p.Asn130= p.N130= ENST00000260443 NM_016304.2 130 aaC/aaT 0 Silent G 48 RSL24D1 SNP 15 G A 53262833 53262833 Broad SRRM2 23524 broad.mit.edu GRCh37 16 2813347 2813347 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000301740.8:c.2818A>G p.Arg940Gly p.R940G ENST00000301740 NM_016333.3 940 Agg/Ggg 0 Missense_Mutation A 15 SRRM2 SNP 16 A G 2753348 2753348 Broad SPN 6693 broad.mit.edu GRCh37 16 29676215 29676215 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000360121.3:c.1166C>A p.Pro389His p.P389H ENST00000360121 NM_001030288.2 389 cCt/cAt 0 Missense_Mutation C 24 SPN SNP 16 C A 29583716 29583716 Broad ZNF423 23090 broad.mit.edu GRCh37 16 49823411 49823411 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000561648.1:c.63C>T p.Ser21= p.S21= ENST00000561648 NM_015069.3 21 tcC/tcT 0 Silent G 39 ZNF423 SNP 16 G A 48380912 48380912 Broad TP53 7157 broad.mit.edu GRCh37 17 7577142 7577142 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.796G>A p.Gly266Arg p.G266R ENST00000269305 NM_001126112.2 266 Gga/Aga 0 Missense_Mutation C 22 TP53 SNP 17 C T 7517867 7517867 Broad CA10 56934 broad.mit.edu GRCh37 17 49825164 49825164 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000451037.2:c.294G>A p.Met98Ile p.M98I ENST00000451037 NM_020178.4 98 atG/atA 0 Missense_Mutation C 17 CA10 SNP 17 C T 47180163 47180163 Broad NPLOC4 55666 broad.mit.edu GRCh37 17 79580491 79580491 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000331134.6:c.239C>G p.Ser80Trp p.S80W ENST00000331134 NM_017921.2 80 tCg/tGg 0 Missense_Mutation G 37 NPLOC4 SNP 17 G C 77190937 77190937 Broad SOGA2 23255 broad.mit.edu GRCh37 18 8819155 8819155 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000359865.3:c.3054G>A p.Ser1018= p.S1018= ENST00000359865 NM_015210.3 1018 tcG/tcA 0 Silent G 39 KIAA0802 SNP 18 G A 8809155 8809155 Broad TRAPPC8 22878 broad.mit.edu GRCh37 18 29419302 29419302 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000283351.4:c.3956C>T p.Ser1319Leu p.S1319L ENST00000283351 NM_014939.3 1319 tCa/tTa 0 Missense_Mutation G 45 TRAPPC8 SNP 18 G A 27673300 27673300 Broad POLI 11201 broad.mit.edu GRCh37 18 51809296 51809296 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000579534.1:c.886A>G p.Lys296Glu p.K296E ENST00000579534 NM_007195.2 296 Aaa/Gaa 0 Missense_Mutation A 1 POLI SNP 18 A G 50063294 50063294 Broad ATP9B 374868 broad.mit.edu GRCh37 18 76856480 76856480 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000426216.2:c.124C>G p.Gln42Glu p.Q42E ENST00000426216 NM_198531.3 42 Cag/Gag 0 Missense_Mutation C 21 ATP9B SNP 18 C G 74957468 74957468 Broad NDUFA7 4701 broad.mit.edu GRCh37 19 8381481 8381482 + missense_variant Missense_Mutation DNP GG GG AA novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000301457.2:c.149_150delinsTT p.Ser50Phe p.S50F ENST00000301457 NM_005001.3 50 tCC/tTT 0 Missense_Mutation GG 47 NDUFA7 DNP 19 GG AA 8287482 8287481 Broad MAST3 23031 broad.mit.edu GRCh37 19 18255395 18255395 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000262811.6:c.2617G>A p.Ala873Thr p.A873T ENST00000262811 NM_015016.1 873 Gcc/Acc 0 Missense_Mutation G 34 MAST3 SNP 19 G A 18116395 18116395 Broad ZNF383 163087 broad.mit.edu GRCh37 19 37726942 37726942 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000589413.1:c.198G>A p.Met66Ile p.M66I ENST00000589413 66 atG/atA 0 Missense_Mutation G 47 ZNF383 SNP 19 G A 42418782 42418782 Broad ZNF761 388561 broad.mit.edu GRCh37 19 53958360 53958360 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000454407.1:n.1052C>A *351* ENST00000454407 0 Nonsense_Mutation C 29 ZNF761 SNP 19 C A 58650172 58650172 Broad ZSCAN4 201516 broad.mit.edu GRCh37 19 58189283 58189283 + missense_variant,splice_region_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000318203.5:c.398T>G p.Val133Gly p.V133G ENST00000318203 NM_152677.2 133 gTc/gGc 0 Missense_Mutation T 58 ZSCAN4 SNP 19 T G 62881095 62881095 Broad GLI2 2736 broad.mit.edu GRCh37 2 121728096 121728096 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000452319.1:c.973G>T p.Ala325Ser p.A325S ENST00000452319 325 Gcc/Tcc 0 Missense_Mutation G 42 GLI2 SNP 2 G T 121444566 121444566 Broad KCTD18 130535 broad.mit.edu GRCh37 2 201371645 201371645 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000359878.3:c.95G>T p.Arg32Leu p.R32L ENST00000359878 NM_152387.2 32 cGc/cTc 0 Missense_Mutation C 27 KCTD18 SNP 2 C A 201079890 201079890 Broad SP100 6672 broad.mit.edu GRCh37 2 231406040 231406040 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000340126.4:c.2356G>C p.Val786Leu p.V786L ENST00000340126 NM_001080391.1 786 Gtc/Ctc 0 Missense_Mutation G 44 SP100 SNP 2 G C 231114284 231114284 Broad PASK 23178 broad.mit.edu GRCh37 2 242051706 242051706 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000358649.4:c.3503C>A p.Thr1168Asn p.T1168N ENST00000358649 1168 aCt/aAt 0 Missense_Mutation G 36 PASK SNP 2 G T 241700379 241700379 Broad ULK4 54986 broad.mit.edu GRCh37 3 41746788 41746788 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000301831.4:c.2644A>T p.Lys882Ter p.K882* ENST00000301831 NM_017886.2 882 Aaa/Taa 0 Nonsense_Mutation T 61 ULK4 SNP 3 T A 41721792 41721792 Broad ATP10D 57205 broad.mit.edu GRCh37 4 47537946 47537946 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000273859.3:c.911A>C p.Asn304Thr p.N304T ENST00000273859 NM_020453.3 304 aAc/aCc 0 Missense_Mutation A 2 ATP10D SNP 4 A C 47232703 47232703 Broad FAT4 79633 broad.mit.edu GRCh37 4 126241592 126241592 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000394329.3:c.4026C>T p.Ser1342= p.S1342= ENST00000394329 NM_024582.4 1342 tcC/tcT 0 Silent C 23 FAT4 SNP 4 C T 126461042 126461042 Broad LRBA 987 broad.mit.edu GRCh37 4 151357919 151357919 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000357115.3:c.6911A>C p.His2304Pro p.H2304P ENST00000357115 NM_006726.4 2304 cAt/cCt 0 Missense_Mutation T 51 LRBA SNP 4 T G 151577369 151577369 Broad IQGAP2 10788 broad.mit.edu GRCh37 5 75996930 75996930 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000274364.6:c.4397G>C p.Gly1466Ala p.G1466A ENST00000274364 NM_006633.2 1466 gGa/gCa 0 Missense_Mutation G 41 IQGAP2 SNP 5 G C 76032686 76032686 Broad CAST 831 broad.mit.edu GRCh37 5 96078438 96078438 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000395812.2:c.1055G>A p.Arg352His p.R352H ENST00000395812 NM_001042440.2 352 cGc/cAc 0 Missense_Mutation G 38 CAST SNP 5 G A 96104194 96104194 Broad FBN2 2201 broad.mit.edu GRCh37 5 127710341 127710341 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000508053.1:c.2075T>A p.Met692Lys p.M692K ENST00000508053 692 aTg/aAg 0 Missense_Mutation A 8 FBN2 SNP 5 A T 127738240 127738240 Broad GPRIN1 114787 broad.mit.edu GRCh37 5 176025191 176025191 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000303991.4:c.1645G>T p.Gly549Cys p.G549C ENST00000303991 NM_052899.2 549 Ggc/Tgc 0 Missense_Mutation C 22 GPRIN1 SNP 5 C A 175957797 175957797 Broad DDX39B 7919 broad.mit.edu GRCh37 6 31498580 31498580 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000396172.1:c.1246G>C p.Asp416His p.D416H ENST00000396172 NM_004640.6 416 Gat/Cat 0 Missense_Mutation C 29 BAT1 SNP 6 C G 31606559 31606559 Broad GPR110 266977 broad.mit.edu GRCh37 6 46984473 46984473 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000371253.2:c.643G>C p.Val215Leu p.V215L ENST00000371253 NM_153840.2 215 Gtt/Ctt 0 Missense_Mutation C 17 GPR110 SNP 6 C G 47092432 47092432 Broad UTRN 7402 broad.mit.edu GRCh37 6 144783798 144783798 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000367545.3:c.2862T>G p.Asp954Glu p.D954E ENST00000367545 NM_007124.2 954 gaT/gaG 0 Missense_Mutation T 51 UTRN SNP 6 T G 144825491 144825491 Broad MEOX2 4223 broad.mit.edu GRCh37 7 15725599 15725599 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000262041.5:c.429G>T p.Ala143= p.A143= ENST00000262041 NM_005924.4 143 gcG/gcT 0 Silent C 19 MEOX2 SNP 7 C A 15692124 15692124 Broad CCDC126 90693 broad.mit.edu GRCh37 7 23682719 23682719 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000307471.3:c.408G>A p.Ser136= p.S136= ENST00000307471 NM_138771.3 136 tcG/tcA 0 Silent G 39 CCDC126 SNP 7 G A 23649244 23649244 Broad HOXA10 3206 broad.mit.edu GRCh37 7 27213806 27213806 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000283921.4:c.120C>T p.Gly40= p.G40= ENST00000283921 NM_018951.3 40 ggC/ggT 0 Silent G 38 HOXA10 SNP 7 G A 27180331 27180331 Broad MUC17 140453 broad.mit.edu GRCh37 7 100678491 100678491 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000306151.4:c.3794G>T p.Gly1265Val p.G1265V ENST00000306151 NM_001040105.1 1265 gGt/gTt 0 Missense_Mutation G 44 MUC17 SNP 7 G T 100465211 100465211 Broad PRKDC 5591 broad.mit.edu GRCh37 8 48811097 48811097 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000314191.2:c.3397C>G p.His1133Asp p.H1133D ENST00000314191 NM_006904.6 1133 Cac/Gac 0 Missense_Mutation G 45 PRKDC SNP 8 G C 48973650 48973650 Broad DCSTAMP 81501 broad.mit.edu GRCh37 8 105360851 105360851 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000297581.2:c.71C>T p.Pro24Leu p.P24L ENST00000297581 NM_030788.3 24 cCc/cTc 0 Missense_Mutation C 22 TM7SF4 SNP 8 C T 105430027 105430027 Broad TPM2 7169 broad.mit.edu GRCh37 9 35689193 35689193 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000378292.3:c.190G>C p.Val64Leu p.V64L ENST00000378292 NM_213674.1 64 Gtg/Ctg 0 Missense_Mutation C 19 TPM2 SNP 9 C G 35679193 35679193 Broad SPTAN1 6709 broad.mit.edu GRCh37 9 131360733 131360733 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000372739.3:c.3469C>G p.Leu1157Val p.L1157V ENST00000372739 NM_001130438.2 1157 Ctg/Gtg 0 Missense_Mutation C 24 SPTAN1 SNP 9 C G 130400554 130400554 Broad CCBL1 883 broad.mit.edu GRCh37 9 131600011 131600011 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown x x x ENST00000302586.3:c.520C>T p.Arg174Cys p.R174C ENST00000302586 NM_004059.4 174 Cgc/Tgc 0 Missense_Mutation G 40 CCBL1 SNP 9 G A 130639832 130639832 Broad PPL 5493 broad.mit.edu GRCh37 16 4935453 4935458 + inframe_deletion In_Frame_Del DEL GCCTCC GCCTCC - novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000345988.2:c.3198_3203del p.Ala1068_Glu1069del p.A1068_E1069del ENST00000345988 NM_002705.4 1066 ctGGAGGCa/cta 0 In_Frame_Del GCCTCC 46 PPL DEL 16 - - 4875459 4875454 Broad C16orf70 80262 broad.mit.edu GRCh37 16 67159946 67159947 + splice_donor_variant Splice_Site INS - - T novel Unknown TCGA-61-2102-01 TCGA-61-2102-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000219139.3:c.231+2dup p.X77_splice ENST00000219139 NM_025187.3 0 Splice_Site_Ins - 44 C16orf70 INS 16 T - 65717448 65717447 Broad STK32B 55351 genome.wustl.edu GRCh37 4 5170060 5170060 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000282908.5:c.143T>C p.Met48Thr p.M48T ENST00000282908 NM_018401.1 48 aTg/aCg 0 Missense_Mutation T 51 STK32B SNP 4 T C 5220961 5220961 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C A rs28934576 Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.818G>T p.Arg273Leu p.R273L ENST00000269305 NM_001126112.2 273 cGt/cTt 0 Missense_Mutation C 19 TP53 SNP 17 A A 7517845 7517845 WashU SETD5 55209 genome.wustl.edu GRCh37 3 9512592 9512592 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000402198.1:c.3174G>A p.Gln1058= p.Q1058= ENST00000402198 NM_001080517.1 1058 caG/caA 0 Silent G 33 SETD5 SNP 3 G A 9487592 9487592 WashU MYH4 4622 genome.wustl.edu GRCh37 17 10350377 10350377 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000255381.2:c.5122C>G p.Gln1708Glu p.Q1708E ENST00000255381 NM_017533.2 1708 Caa/Gaa 0 Missense_Mutation G 46 MYH4 SNP 17 G C 10291102 10291102 WashU TAS2R14 50840 genome.wustl.edu GRCh37 12 11091440 11091440 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000537503.1:c.367A>T p.Lys123Ter p.K123* ENST00000537503 NM_023922.1 123 Aag/Tag 0 Nonsense_Mutation T 64 TAS2R14 SNP 12 T A 10982707 10982707 WashU ZNF799 90576 genome.wustl.edu GRCh37 19 12501677 12501677 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000430385.3:c.1535C>A p.Ala512Asp p.A512D ENST00000430385 NM_001080821.2 512 gCc/gAc 0 Missense_Mutation G 42 ZNF799 SNP 19 G T 12362677 12362677 WashU GS1-600G8.3 100093698 genome.wustl.edu GRCh37 X 13337616 13337616 + splice_region_variant,intron_variant,non_coding_transcript_variant Splice_Region SNP T T G novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000431486.1:n.1934+4T>G p.X645_splice ENST00000431486 0 Silent T 51 ATXN3L SNP 23 T G 13247537 13247537 WashU CLCNKA 1187 genome.wustl.edu GRCh37 1 16351301 16351301 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000331433.4:c.273C>T p.Leu91= p.L91= ENST00000331433 91 ctC/ctT 0 Silent C 30 CLCNKA SNP 1 C T 16223888 16223888 WashU CLCNKA 1187 genome.wustl.edu GRCh37 1 16351308 16351308 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000331433.4:c.280C>T p.Leu94Phe p.L94F ENST00000331433 94 Ctt/Ttt 0 Missense_Mutation C 32 CLCNKA SNP 1 C T 16223895 16223895 WashU APOB 338 genome.wustl.edu GRCh37 2 21233155 21233155 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000233242.1:c.6585A>G p.Lys2195= p.K2195= ENST00000233242 NM_000384.2 2195 aaA/aaG 0 Silent T 64 APOB SNP 2 T C 21086660 21086660 WashU NUFIP2 57532 genome.wustl.edu GRCh37 17 27613766 27613766 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000225388.4:c.1246A>G p.Asn416Asp p.N416D ENST00000225388 NM_020772.2 416 Aat/Gat 0 Missense_Mutation T 61 NUFIP2 SNP 17 C C 24637892 24637892 WashU MPP6 51678 genome.wustl.edu GRCh37 7 24703273 24703273 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000222644.5:c.716C>T p.Ala239Val p.A239V ENST00000222644 239 gCa/gTa 0 Missense_Mutation C 25 MPP6 SNP 7 C T 24669798 24669798 WashU MYO18B 84700 genome.wustl.edu GRCh37 22 26423142 26423142 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000335473.7:c.7202A>G p.Lys2401Arg p.K2401R ENST00000335473 NM_032608.5 2401 aAg/aGg 0 Missense_Mutation A 3 MYO18B SNP 22 A G 24753142 24753142 WashU OCA2 4948 genome.wustl.edu GRCh37 15 28000554 28000554 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354638.3:c.2497G>T p.Val833Leu p.V833L ENST00000354638 NM_000275.2 833 Gtg/Ttg 0 Missense_Mutation C 17 OCA2 SNP 15 C A 25674149 25674149 WashU NEK10 152110 genome.wustl.edu GRCh37 3 27204018 27204018 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295720.6:c.880G>C p.Glu294Gln p.E294Q ENST00000295720 294 Gag/Cag 0 Missense_Mutation C 29 NEK10 SNP 3 C G 27179022 27179022 WashU DCAF8L1 139425 genome.wustl.edu GRCh37 X 27998165 27998165 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000441525.1:c.1287G>A p.Lys429= p.K429= ENST00000441525 NM_001017930.1 429 aaG/aaA 0 Silent C 32 DCAF8L1 SNP 23 C T 27908086 27908086 WashU OVCH1 341350 genome.wustl.edu GRCh37 12 29648367 29648367 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318184.5:c.305T>C p.Val102Ala p.V102A ENST00000318184 NM_183378.2 102 gTg/gCg 0 Missense_Mutation A 6 OVCH1 SNP 12 A G 29539634 29539634 WashU TGFBR2 7048 genome.wustl.edu GRCh37 3 30729881 30729881 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359013.4:c.1477A>C p.Lys493Gln p.K493Q ENST00000359013 NM_001024847.2 493 Aaa/Caa 0 Missense_Mutation A 1 TGFBR2 SNP 3 A C 30704885 30704885 WashU SETD1A 9739 genome.wustl.edu GRCh37 16 30976945 30976945 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000262519.8:c.1743C>T p.Asp581= p.D581= ENST00000262519 NM_014712.1 581 gaC/gaT 0 Silent C 19 SETD1A SNP 16 C T 30884446 30884446 WashU CHMP5 51510 genome.wustl.edu GRCh37 9 33267862 33267862 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000223500.8:c.186G>A p.Lys62= p.K62= ENST00000223500 NM_016410.5 62 aaG/aaA 0 Silent G 34 CHMP5 SNP 9 G A 33257862 33257862 WashU BBS9 27241 genome.wustl.edu GRCh37 7 33376159 33376159 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000242067.6:c.1123G>T p.Glu375Ter p.E375* ENST00000242067 NM_198428.2 375 Gaa/Taa 0 Nonsense_Mutation G 33 BBS9 SNP 7 G T 33342684 33342684 WashU GDNF 2668 genome.wustl.edu GRCh37 5 37815992 37815992 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000427982.1:c.448G>C p.Gly150Arg p.G150R ENST00000427982 NM_001190468.1 150 Ggc/Cgc 0 Missense_Mutation C 22 GDNF SNP 5 C G 37851749 37851749 WashU MTF1 4520 genome.wustl.edu GRCh37 1 38304313 38304313 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373036.4:c.763G>A p.Gly255Arg p.G255R ENST00000373036 NM_005955.2 255 Ggg/Agg 0 Missense_Mutation C 24 MTF1 SNP 1 C T 38076900 38076900 WashU TLR6 10333 genome.wustl.edu GRCh37 4 38829983 38829983 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000436693.2:c.1112A>G p.Glu371Gly p.E371G ENST00000436693 NM_006068.4 371 gAa/gGa 0 Missense_Mutation T 62 TLR6 SNP 4 T C 38506378 38506378 WashU ITGA2B 3674 genome.wustl.edu GRCh37 17 42457993 42457993 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262407.5:c.1414G>A p.Gly472Arg p.G472R ENST00000262407 NM_000419.3 472 Ggg/Agg 0 Missense_Mutation C 23 ITGA2B SNP 17 C T 39813519 39813519 WashU ZNF599 148103 genome.wustl.edu GRCh37 19 35250006 35250006 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329285.8:c.1700A>G p.Glu567Gly p.E567G ENST00000329285 NM_001007248.2 567 gAa/gGa 0 Missense_Mutation T 62 ZNF599 SNP 19 T C 39941846 39941846 WashU SLC12A1 6557 genome.wustl.edu GRCh37 15 48521515 48521515 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396577.3:c.854A>T p.Asp285Val p.D285V ENST00000396577 NM_001184832.1 285 gAt/gTt 0 Missense_Mutation A 12 SLC12A1 SNP 15 A T 46308807 46308807 WashU CEACAM6 4680 genome.wustl.edu GRCh37 19 42265290 42265290 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000199764.6:c.558G>A p.Pro186= p.P186= ENST00000199764 NM_002483.4 186 ccG/ccA 0 Silent G 39 CEACAM6 SNP 19 G A 46957130 46957130 WashU WDR13 64743 genome.wustl.edu GRCh37 X 48458030 48458030 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000218056.5:c.448G>A p.Gly150Arg p.G150R ENST00000218056 NM_001166426.1 150 Ggg/Agg 0 Missense_Mutation G 39 WDR13 SNP 23 G A 48342974 48342974 WashU DCC 1630 genome.wustl.edu GRCh37 18 50683842 50683842 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000442544.2:c.1378C>G p.Gln460Glu p.Q460E ENST00000442544 NM_005215.3 460 Caa/Gaa 0 Missense_Mutation C 29 DCC SNP 18 C G 48937840 48937840 WashU NRXN1 9378 genome.wustl.edu GRCh37 2 50463931 50463931 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000404971.1:c.3662A>T p.His1221Leu p.H1221L ENST00000404971 NM_001135659.1 1221 cAt/cTt 0 Missense_Mutation T 51 NRXN1 SNP 2 T A 50317435 50317435 WashU ZNF841 284371 genome.wustl.edu GRCh37 19 52569914 52569914 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389534.4:c.1221C>T p.Gly407= p.G407= ENST00000389534 NM_001136499.1 407 ggC/ggT 0 Silent G 46 ZNF841 SNP 19 G A 57261726 57261726 WashU EDA 1896 genome.wustl.edu GRCh37 X 68836277 68836277 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374552.4:c.125T>G p.Leu42Arg p.L42R ENST00000374552 NM_001399.4 42 cTc/cGc 0 Missense_Mutation T 54 EDA SNP 23 T G 68753002 68753002 WashU CYP11A1 1583 genome.wustl.edu GRCh37 15 74636161 74636161 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268053.6:c.798T>C p.His266= p.H266= ENST00000268053 NM_000781.2 266 caT/caC 0 Silent A 8 CYP11A1 SNP 15 A G 72423214 72423214 WashU ALMS1P 200420 genome.wustl.edu GRCh37 2 73901058 73901058 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000450720.1:n.856C>T *286* ENST00000450720 0 Missense_Mutation C 27 ALMS1P SNP 2 C T 73754566 73754566 WashU ATP9B 374868 genome.wustl.edu GRCh37 18 77063608 77063608 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000426216.2:c.1416C>A p.Thr472= p.T472= ENST00000426216 NM_198531.3 472 acC/acA 0 Silent C 22 ATP9B SNP 18 C A 75164596 75164596 WashU GCFC2 6936 genome.wustl.edu GRCh37 2 75928348 75928348 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321027.3:c.685C>T p.Gln229Ter p.Q229* ENST00000321027 NM_003203.4 229 Cag/Tag 0 Nonsense_Mutation G 48 C2orf3 SNP 2 G A 75781856 75781856 WashU ADNP2 22850 genome.wustl.edu GRCh37 18 77896044 77896044 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262198.4:c.2748C>T p.Ile916= p.I916= ENST00000262198 NM_014913.3 916 atC/atT 0 Silent C 30 ADNP2 SNP 18 C T 75997035 75997035 WashU GNAT3 346562 genome.wustl.edu GRCh37 7 80088087 80088087 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398291.3:c.965A>T p.His322Leu p.H322L ENST00000398291 NM_001102386.1 322 cAc/cTc 0 Missense_Mutation T 59 GNAT3 SNP 7 T A 79926023 79926023 WashU GSE1 23199 genome.wustl.edu GRCh37 16 85704652 85704652 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253458.7:c.3467C>T p.Ala1156Val p.A1156V ENST00000253458 NM_014615.3 1156 gCc/gTc 0 Missense_Mutation C 26 KIAA0182 SNP 16 T T 84262153 84262153 WashU CEP290 80184 genome.wustl.edu GRCh37 12 88477655 88477655 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000552810.1:c.4781G>T p.Ser1594Ile p.S1594I ENST00000552810 NM_025114.3 1594 aGt/aTt 0 Missense_Mutation C 20 CEP290 SNP 12 C A 87001786 87001786 WashU HTR1F 3355 genome.wustl.edu GRCh37 3 88040240 88040240 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319595.4:c.341T>C p.Leu114Pro p.L114P ENST00000319595 NM_000866.3 114 cTc/cCc 0 Missense_Mutation T 54 HTR1F SNP 3 T C 88122930 88122930 WashU OR5K2 402135 genome.wustl.edu GRCh37 3 98216962 98216962 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000427338.1:c.438A>T p.Thr146= p.T146= ENST00000427338 NM_001004737.1 146 acA/acT 0 Silent A 7 OR5K2 SNP 3 A T 99699652 99699652 WashU ANO4 121601 genome.wustl.edu GRCh37 12 101490421 101490421 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392979.3:c.1741G>A p.Gly581Arg p.G581R ENST00000392979 NM_178826.3 581 Gga/Aga 0 Missense_Mutation G 39 ANO4 SNP 12 G A 100014552 100014552 WashU ASCC3 10973 genome.wustl.edu GRCh37 6 101165950 101165950 + splice_donor_variant Splice_Site SNP C C G novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369162.2:c.2079+1G>C p.X693_splice ENST00000369162 NM_006828.2 0 Splice_Site_SNP C 18 ASCC3 SNP 6 C G 101272671 101272671 WashU PKD2L1 9033 genome.wustl.edu GRCh37 10 102056751 102056751 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318222.3:c.1171C>A p.Leu391Met p.L391M ENST00000318222 NM_016112.2 391 Ctg/Atg 0 Missense_Mutation G 35 PKD2L1 SNP 10 G T 102046741 102046741 WashU COL4A2 1284 genome.wustl.edu GRCh37 13 111082244 111082244 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360467.5:c.490C>T p.Pro164Ser p.P164S ENST00000360467 NM_001846.2 164 Cca/Tca 0 Missense_Mutation C 18 COL4A2 SNP 13 C T 109880245 109880245 WashU TRAF3IP2 10758 genome.wustl.edu GRCh37 6 111888840 111888840 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000368761.5:c.1346G>T p.Arg449Leu p.R449L ENST00000368761 NM_001164281.2 449 cGc/cTc 0 Missense_Mutation C 27 TRAF3IP2 SNP 6 C A 111995533 111995533 WashU LAMP2 3920 genome.wustl.edu GRCh37 X 119582824 119582824 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000434600.2:c.556+1G>T p.X186_splice ENST00000434600 NM_001122606.1 0 Splice_Site_SNP C 18 LAMP2 SNP 23 C A 119466852 119466852 WashU ANAPC5 51433 genome.wustl.edu GRCh37 12 121758249 121758250 + missense_variant Missense_Mutation DNP GC GC AT novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 GC GC GC AT GC GC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261819.3:c.1453_1454delinsAT p.Ala485Ile p.A485I ENST00000261819 NM_016237.4 485 GCa/ATa 0 Missense GC 46 ANAPC5 DNP 12 GC AT 120242633 120242632 WashU PITPNM2 57605 genome.wustl.edu GRCh37 12 123471965 123471965 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000320201.4:c.3276G>A p.Thr1092= p.T1092= ENST00000320201 NM_020845.2 1092 acG/acA 0 Silent C 19 PITPNM2 SNP 12 C T 122037918 122037918 WashU SLC13A1 6561 genome.wustl.edu GRCh37 7 122808565 122808567 + inframe_deletion In_Frame_Del DEL CTG CTG - novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000194130.2:c.602_604del p.Pro201_Val202delinsLeu p.P201_V202delinsL ENST00000194130 NM_022444.3 201 cCAGtt/ctt 0 Indel CNG 20 SLC13A1 Indel 7 CNG AN- 122595803 122595801 WashU CNTNAP5 129684 genome.wustl.edu GRCh37 2 125660527 125660527 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000431078.1:c.3502G>A p.Val1168Ile p.V1168I ENST00000431078 NM_130773.3 1168 Gtc/Atc 0 Missense_Mutation G 40 CNTNAP5 SNP 2 G A 125376997 125376997 WashU KBTBD12 166348 genome.wustl.edu GRCh37 3 127682210 127682210 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405109.1:c.1671C>T p.Cys557= p.C557= ENST00000405109 557 tgC/tgT 0 Silent C 27 KBTBD12 SNP 3 C T 129164900 129164900 WashU ZNF806 646915 genome.wustl.edu GRCh37 2 133076200 133076200 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000438300.1:n.1665T>C *555* ENST00000438300 0 Missense_Mutation T 54 ZNF806 SNP 2 T C 132792670 132792670 WashU TAAR6 319100 genome.wustl.edu GRCh37 6 132892221 132892221 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000275198.1:c.761G>T p.Arg254Ile p.R254I ENST00000275198 NM_175067.1 254 aGa/aTa 0 Missense_Mutation G 33 TAAR6 SNP 6 G T 132933914 132933914 WashU CHRM2 1129 genome.wustl.edu GRCh37 7 136699767 136699767 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000445907.2:c.155G>A p.Arg52His p.R52H ENST00000445907 NM_001006627.1 52 cGc/cAc 0 Missense_Mutation G 38 CHRM2 SNP 7 G A 136350307 136350307 WashU PCDHB9 56127 genome.wustl.edu GRCh37 5 140568415 140568415 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316105.4:n.1521G>C *507* ENST00000316105 0 Missense_Mutation G 39 PCDHB9 SNP 5 G C 140548599 140548599 WashU MROH5 389690 genome.wustl.edu GRCh37 8 142487536 142487536 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000430863.1:c.1412G>A p.Arg471His p.R471H ENST00000430863 NM_207414.2 471 cGc/cAc 0 Missense_Mutation C 27 FLJ43860 SNP 8 C T 142556718 142556718 WashU EEF1D 1936 genome.wustl.edu GRCh37 8 144668985 144668985 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000423316.2:c.1129A>T p.Ile377Phe p.I377F ENST00000423316 NM_001130053.2 377 Atc/Ttc 0 Missense_Mutation T 50 EEF1D SNP 8 T A 144740128 144740128 WashU SV2A 9900 genome.wustl.edu GRCh37 1 149882378 149882378 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369146.3:c.955G>T p.Gly319Trp p.G319W ENST00000369146 NM_014849.4 319 Ggg/Tgg 0 Missense_Mutation C 21 SV2A SNP 1 C A 148149002 148149002 WashU MTMR1 8776 genome.wustl.edu GRCh37 X 149901048 149901048 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000544228.1:c.902C>T p.Thr301Met p.T301M ENST00000544228 301 aCg/aTg 0 Missense_Mutation C 19 MTMR1 SNP 23 C T 149651706 149651706 WashU MEF2D 4209 genome.wustl.edu GRCh37 1 156452248 156452248 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000348159.4:c.239C>G p.Thr80Ser p.T80S ENST00000348159 NM_005920.3 80 aCc/aGc 0 Missense_Mutation G 44 MEF2D SNP 1 G C 154718872 154718872 WashU RNF145 153830 genome.wustl.edu GRCh37 5 158603759 158603759 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000518802.1:c.592A>G p.Ile198Val p.I198V ENST00000518802 NM_001199380.1 198 Att/Gtt 0 Missense_Mutation T 52 RNF145 SNP 5 T C 158536337 158536337 WashU FNDC1 84624 genome.wustl.edu GRCh37 6 159653534 159653534 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000297267.9:c.1990G>A p.Ala664Thr p.A664T ENST00000297267 NM_032532.2 664 Gcc/Acc 0 Missense_Mutation G 38 FNDC1 SNP 6 G A 159573524 159573524 WashU ZNF354C 30832 genome.wustl.edu GRCh37 5 178505824 178505824 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315475.6:c.391G>C p.Glu131Gln p.E131Q ENST00000315475 NM_014594.1 131 Gag/Cag 0 Missense_Mutation G 45 ZNF354C SNP 5 G C 178438430 178438430 WashU FAT1 2195 genome.wustl.edu GRCh37 4 187557245 187557245 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000441802.2:c.4117G>A p.Val1373Ile p.V1373I ENST00000441802 NM_005245.3 1373 Gtt/Att 0 Missense_Mutation C 19 FAT1 SNP 4 C T 187794239 187794239 WashU CPN2 1370 genome.wustl.edu GRCh37 3 194062030 194062030 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000323830.3:c.1402T>A p.Trp468Arg p.W468R ENST00000323830 NM_001080513.2 468 Tgg/Agg 0 Missense_Mutation A 7 CPN2 SNP 3 A T 195543725 195543725 WashU SPATS2L 26010 genome.wustl.edu GRCh37 2 201284181 201284181 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358677.5:c.407T>A p.Ile136Lys p.I136K ENST00000358677 NM_015535.2 136 aTa/aAa 0 Missense_Mutation T 49 LOC26010 SNP 2 T A 200992426 200992426 WashU ADAM23 8745 genome.wustl.edu GRCh37 2 207412172 207412172 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000264377.3:c.740A>G p.His247Arg p.H247R ENST00000264377 NM_003812.3 247 cAt/cGt 0 Missense_Mutation A 8 ADAM23 SNP 2 A G 207120417 207120417 WashU TLR5 7100 genome.wustl.edu GRCh37 1 223286050 223286050 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000540964.1:c.324C>A p.Tyr108Ter p.Y108* ENST00000540964 108 taC/taA 0 Nonsense_Mutation G 36 TLR5 SNP 1 G T 221352673 221352673 WashU KCNE4 23704 genome.wustl.edu GRCh37 2 223917939 223917939 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000604125.1:c.391T>G p.Ser131Ala p.S131A ENST00000604125 131 Tcc/Gcc 0 Missense_Mutation T 54 KCNE4 SNP 2 T G 223626183 223626183 WashU CHRM3 1131 genome.wustl.edu GRCh37 1 240072078 240072078 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000255380.4:c.1327G>A p.Val443Ile p.V443I ENST00000255380 NM_000740.2 443 Gtc/Atc 0 Missense_Mutation G 40 CHRM3 SNP 1 G A 238138701 238138701 WashU EMR4P 326342 genome.wustl.edu GRCh37 19 6981089 6981090 + splice_donor_variant,non_coding_transcript_variant Splice_Site INS - - C novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000600751.1:n.589+1dup p.X197_splice ENST00000600751 0 Splice_Site_Ins - 14 EMR4P INS 19 - C 6932090 6932089 WashU CDK12 51755 genome.wustl.edu GRCh37 17 37618687 37618688 + frameshift_variant Frame_Shift_Del DEL CT CT - novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 CT CT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000447079.4:c.363_364del p.Leu122ThrfsTer4 p.L122Tfs*4 ENST00000447079 NM_015083.1 121 gaCTta/gata 0 Indel CT 20 CDK12 Indel 17 CT - 34872214 34872213 WashU TOP2A 7153 genome.wustl.edu GRCh37 17 38569194 38569195 + frameshift_variant Frame_Shift_Ins INS - - CCAG novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000423485.1:c.602_605dup p.Glu203TrpfsTer2 p.E203Wfs*2 ENST00000423485 NM_001067.3 202 ggt/ggCTGGt 0 Frame_Shift_Ins - 6 TOP2A INS 17 - CCAG 35822721 35822720 WashU KCNA3 3738 genome.wustl.edu GRCh37 1 111216633 111216633 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369769.2:c.799G>A p.Ala267Thr p.A267T ENST00000369769 NM_002232.3 267 Gcc/Acc 0 Missense_Mutation C 27 KCNA3 SNP 1 C T 111018156 111018156 WashU ZNF683 257101 genome.wustl.edu GRCh37 1 26694252 26694252 + missense_variant Missense_Mutation SNP C C G Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C G C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000374204.1:c.151G>C p.Asp51His p.D51H ENST00000374204 NM_173574.2 51 Gat/Cat 0 Missense_Mutation C 30 ZNF683 SNP 1 C G 26566839 26566839 WashU TMEM132D 121256 genome.wustl.edu GRCh37 12 130184667 130184667 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000422113.2:c.656C>T p.Pro219Leu p.P219L ENST00000422113 NM_133448.2 219 cCg/cTg 0 Missense_Mutation G 39 TMEM132D SNP 12 G A 128750620 128750620 WashU RNMTL1 55178 genome.wustl.edu GRCh37 17 685836 685836 + missense_variant Missense_Mutation SNP A A G Unknown TCGA-13-0791-01 TCGA-13-0791-10 A A A G A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000304478.4:c.218A>G p.Lys73Arg p.K73R ENST00000304478 NM_018146.2 73 aAa/aGa 0 Missense_Mutation A 1 RNMTL1 SNP 17 A G 632586 632586 WashU CXXC11 285093 genome.wustl.edu GRCh37 2 242815214 242815214 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000343216.3:c.1507G>A p.Gly503Ser p.G503S ENST00000343216 NM_173821.2 503 Ggc/Agc 0 Missense_Mutation G 35 C2orf85 SNP 2 G A 242463887 242463887 WashU ITIH1 3697 genome.wustl.edu GRCh37 3 52822297 52822297 + synonymous_variant Silent SNP C C T Unknown TCGA-13-0791-01 TCGA-13-0791-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000273283.2:c.2055C>T p.Thr685= p.T685= ENST00000273283 NM_002215.3 685 acC/acT 0 Silent C 22 ITIH1 SNP 3 C T 52797337 52797337 WashU PCDHA7 56141 genome.wustl.edu GRCh37 5 140215375 140215375 + synonymous_variant Silent SNP G G A Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000525929.1:c.1407G>A p.Pro469= p.P469= ENST00000525929 NM_018910.2 469 ccG/ccA 0 Silent G 38 PCDHA7 SNP 5 G A 140195559 140195559 WashU PPIL1 51645 genome.wustl.edu GRCh37 6 36842541 36842541 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-13-0791-01 TCGA-13-0791-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000373699.5:c.8C>T p.Ala3Val p.A3V ENST00000373699 NM_016059.4 3 gCa/gTa 0 Missense_Mutation G 46 PPIL1 SNP 6 G A 36950519 36950519 WashU PTPRC 5788 broad.mit.edu GRCh37 1 198697499 198697499 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000442510.2:c.1751C>T p.Ala584Val p.A584V ENST00000442510 584 gCa/gTa 0 Missense_Mutation C 25 PTPRC SNP 1 C T 196964122 196964122 Broad PCDH15 65217 broad.mit.edu GRCh37 10 55566629 55566629 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000373965.2:c.4765C>G p.His1589Asp p.H1589D ENST00000373965 NM_001142772.1 1589 Cat/Gat 0 Missense_Mutation G 48 PCDH15 SNP 10 G C 55236635 55236635 Broad OR52I1 390037 broad.mit.edu GRCh37 11 4615663 4615663 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000530443.2:c.395A>G p.Lys132Arg p.K132R ENST00000530443 NM_001005169.1 132 aAg/aGg 0 Missense_Mutation A 3 OR52I1 SNP 11 A G 4572239 4572239 Broad LRRK2 120892 broad.mit.edu GRCh37 12 40716160 40716160 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000298910.7:c.5357C>T p.Ser1786Phe p.S1786F ENST00000298910 NM_198578.3 1786 tCt/tTt 0 Missense_Mutation C 32 LRRK2 SNP 12 C T 39002427 39002427 Broad RBM19 9904 broad.mit.edu GRCh37 12 114374899 114374899 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000545145.2:c.1981G>A p.Val661Ile p.V661I ENST00000545145 NM_001146699.1 661 Gtc/Atc 0 Missense_Mutation C 19 RBM19 SNP 12 C T 112859282 112859282 Broad TCTN2 79867 broad.mit.edu GRCh37 12 124179492 124179492 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000303372.5:c.1203T>A p.Ile401= p.I401= ENST00000303372 NM_024809.4 401 atT/atA 0 Silent T 64 TCTN2 SNP 12 T A 122745445 122745445 Broad PIBF1 10464 broad.mit.edu GRCh37 13 73428218 73428218 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000326291.6:c.1247A>G p.Asn416Ser p.N416S ENST00000326291 NM_006346.2 416 aAt/aGt 0 Missense_Mutation A 4 PIBF1 SNP 13 A G 72326219 72326219 Broad C14orf159 80017 broad.mit.edu GRCh37 14 91691162 91691162 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000518868.1:c.1851C>T p.Thr617= p.T617= ENST00000518868 NM_001286470.1 617 acC/acT 0 Silent C 21 C14orf159 SNP 14 C T 90760915 90760915 Broad MTMR10 54893 broad.mit.edu GRCh37 15 31251114 31251114 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000435680.1:c.887G>A p.Arg296Gln p.R296Q ENST00000435680 NM_017762.2 296 cGa/cAa 0 Missense_Mutation C 31 MTMR10 SNP 15 C T 29038406 29038406 Broad MAPK6 5597 broad.mit.edu GRCh37 15 52356497 52356497 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000261845.5:c.1466A>C p.Lys489Thr p.K489T ENST00000261845 NM_002748.3 489 aAg/aCg 0 Missense_Mutation A 3 MAPK6 SNP 15 A C 50143789 50143789 Broad SV2B 9899 broad.mit.edu GRCh37 15 91809887 91809887 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000394232.1:c.1084C>T p.Arg362Cys p.R362C ENST00000394232 NM_014848.4 362 Cgc/Tgc 0 Missense_Mutation C 27 SV2B SNP 15 C T 89610891 89610891 Broad DNAH3 55567 broad.mit.edu GRCh37 16 21080897 21080897 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000261383.3:c.3220A>T p.Ile1074Phe p.I1074F ENST00000261383 NM_017539.1 1074 Att/Ttt 0 Missense_Mutation T 52 DNAH3 SNP 16 T A 20988398 20988398 Broad TP53 7157 broad.mit.edu GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T rs11540652 byHapMap TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 Missense_Mutation C 23 TP53 SNP 17 C T 7518263 7518263 Broad GSDMB 55876 broad.mit.edu GRCh37 17 38073537 38073537 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000418519.1:c.33T>C p.Ile11= p.I11= ENST00000418519 NM_001165958.1 11 atT/atC 0 Silent A 5 GSDMB SNP 17 A G 35327063 35327063 Broad NACA2 342538 broad.mit.edu GRCh37 17 59668313 59668313 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000521764.1:c.229C>T p.Arg77Trp p.R77W ENST00000521764 NM_199290.3 77 Cgg/Tgg 0 Missense_Mutation G 40 NACA2 SNP 17 G A 57023095 57023095 Broad SLC25A19 60386 broad.mit.edu GRCh37 17 73279617 73279617 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000402418.3:c.346C>T p.Arg116Trp p.R116W ENST00000402418 116 Cgg/Tgg 0 Missense_Mutation G 39 SLC25A19 SNP 17 G A 70791212 70791212 Broad PQLC1 80148 broad.mit.edu GRCh37 18 77710724 77710724 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000397778.2:c.203G>A p.Trp68Ter p.W68* ENST00000397778 NM_025078.4 68 tGg/tAg 0 Nonsense_Mutation C 21 PQLC1 SNP 18 C T 75811712 75811712 Broad NDUFS7 374291 broad.mit.edu GRCh37 19 1390968 1390969 + missense_variant Missense_Mutation DNP CT CT GG novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000233627.9:c.327_328delinsGG p.Phe110Val p.F110V ENST00000233627 NM_024407.4 109 gtCTtc/gtGGtc 0 Missense_Mutation CT 32 NDUFS7 DNP 19 CT GG 1341969 1341968 Broad SMARCA4 6597 broad.mit.edu GRCh37 19 11118635 11118635 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000344626.4:c.2059A>G p.Lys687Glu p.K687E ENST00000344626 NM_003072.3 687 Aag/Gag 0 Missense_Mutation A 9 SMARCA4 SNP 19 A G 10979635 10979635 Broad CRTC1 23373 broad.mit.edu GRCh37 19 18886579 18886579 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000338797.6:c.1689G>A p.Ser563= p.S563= ENST00000338797 NM_001098482.1 563 tcG/tcA 0 Silent G 38 CRTC1 SNP 19 G A 18747579 18747579 Broad ZNF180 7733 broad.mit.edu GRCh37 19 44980971 44980971 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000221327.4:c.1727C>T p.Pro576Leu p.P576L ENST00000221327 NM_013256.4 576 cCg/cTg 0 Missense_Mutation G 39 ZNF180 SNP 19 G A 49672811 49672811 Broad TEAD2 8463 broad.mit.edu GRCh37 19 49862705 49862705 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000598810.1:c.284G>A p.Arg95Gln p.R95Q ENST00000598810 NM_001256661.1 95 cGa/cAa 0 Missense_Mutation C 31 TEAD2 SNP 19 C T 54554517 54554517 Broad CGREF1 10669 broad.mit.edu GRCh37 2 27324965 27324965 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000402394.1:c.342G>A p.Pro114= p.P114= ENST00000402394 NM_006569.5 114 ccG/ccA 0 Silent C 23 CGREF1 SNP 2 C T 27178469 27178469 Broad LTBP1 4052 broad.mit.edu GRCh37 2 33359903 33359903 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000404816.2:c.1077C>T p.Ser359= p.S359= ENST00000404816 359 agC/agT 0 Silent C 25 LTBP1 SNP 2 C T 33213407 33213407 Broad HEATR5B 54497 broad.mit.edu GRCh37 2 37227732 37227732 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000233099.5:c.5542C>A p.Pro1848Thr p.P1848T ENST00000233099 NM_019024.1 1848 Cca/Aca 0 Missense_Mutation G 44 HEATR5B SNP 2 G T 37081236 37081236 Broad FANCL 55120 broad.mit.edu GRCh37 2 58449122 58449122 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000402135.3:c.329T>C p.Phe110Ser p.F110S ENST00000402135 NM_001114636.1 110 tTc/tCc 0 Missense_Mutation A 9 FANCL SNP 2 A G 58302626 58302626 Broad POU3F3 5455 broad.mit.edu GRCh37 2 105473036 105473036 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000361360.2:c.1068G>A p.Ser356= p.S356= ENST00000361360 NM_006236.1 356 tcG/tcA 0 Silent G 38 POU3F3 SNP 2 G A 104839468 104839468 Broad ZC3H6 376940 broad.mit.edu GRCh37 2 113089707 113089707 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000409871.1:c.3212C>T p.Ser1071Leu p.S1071L ENST00000409871 NM_198581.2 1071 tCa/tTa 0 Missense_Mutation C 29 ZC3H6 SNP 2 C T 112806178 112806178 Broad DPP10 57628 broad.mit.edu GRCh37 2 116510801 116510801 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000393147.2:c.1014A>T p.Val338= p.V338= ENST00000393147 NM_001178034.1 338 gtA/gtT 0 Silent A 13 DPP10 SNP 2 A T 116227271 116227271 Broad TTC21B 79809 broad.mit.edu GRCh37 2 166797568 166797568 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000243344.7:c.679G>T p.Asp227Tyr p.D227Y ENST00000243344 NM_024753.4 227 Gat/Tat 0 Missense_Mutation C 30 TTC21B SNP 2 C A 166505814 166505814 Broad GLB1L 79411 broad.mit.edu GRCh37 2 220104502 220104502 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000295759.7:c.775C>T p.Pro259Ser p.P259S ENST00000295759 NM_001286423.1 259 Cca/Tca 0 Missense_Mutation G 42 GLB1L SNP 2 G A 219812746 219812746 Broad MN1 4330 broad.mit.edu GRCh37 22 28196333 28196333 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000302326.4:c.199C>T p.Pro67Ser p.P67S ENST00000302326 NM_002430.2 67 Ccc/Tcc 0 Missense_Mutation G 42 MN1 SNP 22 G A 26526333 26526333 Broad EIF4ENIF1 56478 broad.mit.edu GRCh37 22 31835896 31835896 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000397525.1:c.2928C>T p.Ile976= p.I976= ENST00000397525 NM_001164501.1 976 atC/atT 0 Silent G 45 EIF4ENIF1 SNP 22 G A 30165896 30165896 Broad EIF4ENIF1 56478 broad.mit.edu GRCh37 22 31835994 31835994 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000397525.1:c.2830C>T p.Arg944Cys p.R944C ENST00000397525 NM_001164501.1 944 Cgc/Tgc 0 Missense_Mutation G 37 EIF4ENIF1 SNP 22 G A 30165994 30165994 Broad EBLN2 55096 broad.mit.edu GRCh37 3 73111514 73111514 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000533473.1:c.282A>G p.Gln94= p.Q94= ENST00000533473 NM_018029.3 94 caA/caG 0 Silent A 2 FLJ10213 SNP 3 A G 73194204 73194204 Broad OTOP1 133060 broad.mit.edu GRCh37 4 4199527 4199527 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000296358.4:c.1034C>T p.Ser345Leu p.S345L ENST00000296358 NM_177998.1 345 tCg/tTg 0 Missense_Mutation G 37 OTOP1 SNP 4 G A 4250428 4250428 Broad MAN2B2 23324 broad.mit.edu GRCh37 4 6595073 6595073 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000285599.3:c.854C>G p.Pro285Arg p.P285R ENST00000285599 NM_015274.1 285 cCc/cGc 0 Missense_Mutation C 22 MAN2B2 SNP 4 C G 6645974 6645974 Broad LNX1 84708 broad.mit.edu GRCh37 4 54424124 54424124 + intron_variant Intron SNP C C T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000263925.7:c.380+15666G>A *127* ENST00000263925 NM_001126328.2 0 Silent C 27 LNX1 SNP 4 C T 54118881 54118881 Broad DDIT4L 115265 broad.mit.edu GRCh37 4 101108838 101108838 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000273990.2:c.578C>T p.Ser193Phe p.S193F ENST00000273990 NM_145244.3 193 tCc/tTc 0 Missense_Mutation G 41 DDIT4L SNP 4 G A 101327861 101327861 Broad TSSK1B 83942 broad.mit.edu GRCh37 5 112769842 112769842 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000390666.3:c.695G>A p.Arg232His p.R232H ENST00000390666 NM_032028.3 232 cGc/cAc 0 Missense_Mutation C 27 TSSK1B SNP 5 C T 112797741 112797741 Broad PCDHA4 56144 broad.mit.edu GRCh37 5 140186856 140186856 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000530339.1:c.84C>T p.Asn28= p.N28= ENST00000530339 NM_018907.2 28 aaC/aaT 0 Silent C 19 PCDHA4 SNP 5 C T 140167040 140167040 Broad PCDHB10 56126 broad.mit.edu GRCh37 5 140573799 140573799 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000239446.4:c.1674G>A p.Ser558= p.S558= ENST00000239446 NM_018930.3 558 tcG/tcA 0 Silent G 38 PCDHB10 SNP 5 G A 140553983 140553983 Broad GABRG2 2566 broad.mit.edu GRCh37 5 161576234 161576234 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000414552.2:c.1163C>G p.Ser388Cys p.S388C ENST00000414552 NM_198903.2 388 tCt/tGt 0 Missense_Mutation C 32 GABRG2 SNP 5 C G 161508812 161508812 Broad TRIM10 10107 broad.mit.edu GRCh37 6 30128512 30128512 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000449742.2:c.124C>T p.Arg42Cys p.R42C ENST00000449742 NM_006778.3 42 Cgc/Tgc 0 Missense_Mutation G 39 TRIM10 SNP 6 G A 30236491 30236491 Broad FOXO3 2309 broad.mit.edu GRCh37 6 108985197 108985197 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000406360.1:c.1161G>T p.Met387Ile p.M387I ENST00000406360 NM_001455.3 387 atG/atT 0 Missense_Mutation G 47 FOXO3 SNP 6 G T 109091890 109091890 Broad BBS9 27241 broad.mit.edu GRCh37 7 33195288 33195288 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000242067.6:c.302G>A p.Arg101Lys p.R101K ENST00000242067 NM_198428.2 101 aGa/aAa 0 Missense_Mutation G 33 BBS9 SNP 7 G A 33161813 33161813 Broad EBF2 64641 broad.mit.edu GRCh37 8 25718648 25718648 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000520164.1:c.1259C>T p.Ala420Val p.A420V ENST00000520164 NM_022659.3 420 gCg/gTg 0 Missense_Mutation G 38 EBF2 SNP 8 G A 25774565 25774565 Broad ADAMTSL2 9719 broad.mit.edu GRCh37 9 136412308 136412308 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000354484.4:c.912G>T p.Gly304= p.G304= ENST00000354484 NM_001145320.1 304 ggG/ggT 0 Silent G 42 ADAMTSL2 SNP 9 G T 135402129 135402129 Broad MAGED2 10916 broad.mit.edu GRCh37 X 54836543 54836543 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000375068.1:c.434C>T p.Pro145Leu p.P145L ENST00000375068 145 cCc/cTc 0 Missense_Mutation C 22 MAGED2 SNP 23 C T 54853268 54853268 Broad IRS4 8471 broad.mit.edu GRCh37 X 107977383 107977383 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown x x x ENST00000372129.2:c.2192G>A p.Arg731His p.R731H ENST00000372129 NM_003604.2 731 cGc/cAc 0 Missense_Mutation C 27 IRS4 SNP 23 C T 107864039 107864039 Broad TRIT1 54802 broad.mit.edu GRCh37 1 40315884 40315884 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000316891.5:c.610del p.His204IlefsTer16 p.H204Ifs*16 ENST00000316891 NM_017646.4 204 Cat/at 0 Frame_Shift_Del G 47 TRIT1 DEL 1 - G 40088471 40088471 Broad SLC30A1 7779 broad.mit.edu GRCh37 1 211749236 211749242 + frameshift_variant Frame_Shift_Del DEL CAGATTC CAGATTC - novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000367001.4:c.1012_1018del p.Glu338LeufsTer17 p.E338Lfs*17 ENST00000367001 NM_021194.2 338 GAATCTGct/ct 0 Frame_Shift_Del CAGATTC 25 SLC30A1 DEL 1 - CAGATTC 209815865 209815859 Broad ARHGAP36 158763 broad.mit.edu GRCh37 X 130215886 130215889 + frameshift_variant Frame_Shift_Del DEL GACA GACA - novel Unknown TCGA-24-2260-01 TCGA-24-2260-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000276211.5:c.249_252del p.Asp83GlufsTer16 p.D83Efs*16 ENST00000276211 NM_144967.3 83 GACAga/ga 0 Frame_Shift_Del GACA 45 ARHGAP36 DEL 23 - GACA 130043570 130043567 Broad PRAMEF4 400735 broad.mit.edu GRCh37 1 12939706 12939706 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000235349.5:c.1096G>C p.Asp366His p.D366H ENST00000235349 NM_001009611.2 366 Gac/Cac 0 Missense_Mutation C 32 PRAMEF4 SNP 1 C G 12862293 12862293 Broad IL12RB2 3595 broad.mit.edu GRCh37 1 67816622 67816622 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000262345.1:c.1108G>A p.Gly370Arg p.G370R ENST00000262345 NM_001559.2 370 Ggg/Agg 0 Missense_Mutation G 35 IL12RB2 SNP 1 G A 67589210 67589210 Broad ZNF697 90874 broad.mit.edu GRCh37 1 120165502 120165502 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000421812.2:c.1464G>A p.Thr488= p.T488= ENST00000421812 NM_001080470.1 488 acG/acA 0 Silent C 23 ZNF697 SNP 1 C T 119967025 119967025 Broad ZBTB7B 51043 broad.mit.edu GRCh37 1 154987599 154987599 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000417934.2:c.565G>A p.Asp189Asn p.D189N ENST00000417934 NM_001252406.2 189 Gac/Aac 0 Missense_Mutation G 45 ZBTB7B SNP 1 G A 153254223 153254223 Broad RGS4 5999 broad.mit.edu GRCh37 1 163044228 163044228 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000421743.2:c.787C>T p.Arg263Cys p.R263C ENST00000421743 NM_001102445.2 263 Cgc/Tgc 0 Missense_Mutation C 23 RGS4 SNP 1 C T 161310852 161310852 Broad CNIH4 29097 broad.mit.edu GRCh37 1 224548210 224548210 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000465271.1:c.83C>T p.Ser28Phe p.S28F ENST00000465271 NM_014184.3 28 tCt/tTt 0 Missense_Mutation C 32 CNIH4 SNP 1 C T 222614833 222614833 Broad ARID4B 51742 broad.mit.edu GRCh37 1 235345429 235345429 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264183.3:c.2805G>A p.Trp935Ter p.W935* ENST00000264183 NM_016374.5 935 tgG/tgA 0 Nonsense_Mutation C 26 ARID4B SNP 1 C T 233412052 233412052 Broad ITIH5 80760 broad.mit.edu GRCh37 10 7618800 7618800 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000256861.6:c.1594G>C p.Ala532Pro p.A532P ENST00000256861 NM_030569.6 532 Gcc/Ccc 0 Missense_Mutation C 27 ITIH5 SNP 10 C G 7658806 7658806 Broad ANKRD30A 91074 broad.mit.edu GRCh37 10 37430973 37430973 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000361713.1:c.980T>A p.Ile327Asn p.I327N ENST00000361713 NM_052997.2 327 aTc/aAc 0 Missense_Mutation T 50 ANKRD30A SNP 10 T A 37470979 37470979 Broad DLG5 9231 broad.mit.edu GRCh37 10 79595499 79595499 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000372391.2:c.1619T>G p.Ile540Ser p.I540S ENST00000372391 NM_004747.3 540 aTc/aGc 0 Missense_Mutation A 12 DLG5 SNP 10 A C 79265505 79265505 Broad ZNF518A 9849 broad.mit.edu GRCh37 10 97916860 97916860 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000534948.1:n.1638C>T *546* ENST00000534948 0 Missense_Mutation C 30 ZNF518A SNP 10 C T 97906850 97906850 Broad LOXL4 84171 broad.mit.edu GRCh37 10 100015394 100015394 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000260702.3:c.1531G>C p.Gly511Arg p.G511R ENST00000260702 NM_032211.6 511 Ggg/Cgg 0 Missense_Mutation C 23 LOXL4 SNP 10 C G 100005384 100005384 Broad SLC6A5 9152 broad.mit.edu GRCh37 11 20649563 20649563 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000525748.1:c.1433T>C p.Leu478Ser p.L478S ENST00000525748 NM_004211.3 478 tTa/tCa 0 Missense_Mutation T 61 SLC6A5 SNP 11 T C 20606139 20606139 Broad LRRC4C 57689 broad.mit.edu GRCh37 11 40137798 40137798 + synonymous_variant Silent SNP A A C novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000278198.2:c.45T>G p.Gly15= p.G15= ENST00000278198 15 ggT/ggG 0 Silent A 10 LRRC4C SNP 11 A C 40094374 40094374 Broad OR5L1 219437 broad.mit.edu GRCh37 11 55579783 55579783 + missense_variant Missense_Mutation SNP G G C rs61735738 Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000333973.2:c.841G>C p.Val281Leu p.V281L ENST00000333973 NM_001004738.1 281 Gtg/Ctg 0 Missense_Mutation G 40 OR5L1 SNP 11 G C 55336359 55336359 Broad LPXN 9404 broad.mit.edu GRCh37 11 58317325 58317325 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000528954.1:c.691A>G p.Met231Val p.M231V ENST00000528954 NM_001143995.1 231 Atg/Gtg 0 Missense_Mutation T 52 LPXN SNP 11 T C 58073901 58073901 Broad SLC22A25 387601 broad.mit.edu GRCh37 11 62996901 62996901 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000306494.6:c.224T>C p.Ile75Thr p.I75T ENST00000306494 NM_199352.3 75 aTc/aCc 0 Missense_Mutation A 12 SLC22A25 SNP 11 A G 62753477 62753477 Broad SSH3 54961 broad.mit.edu GRCh37 11 67079285 67079285 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000308127.4:c.1907C>T p.Ser636Phe p.S636F ENST00000308127 NM_017857.3 636 tCc/tTc 0 Missense_Mutation C 30 SSH3 SNP 11 C T 66835861 66835861 Broad LRRK2 120892 broad.mit.edu GRCh37 12 40693019 40693019 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000298910.7:c.3456T>A p.Cys1152Ter p.C1152* ENST00000298910 NM_198578.3 1152 tgT/tgA 0 Nonsense_Mutation T 58 LRRK2 SNP 12 T A 38979286 38979286 Broad CLLU1 574028 broad.mit.edu GRCh37 12 92818613 92818613 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000378485.1:c.157T>G p.Ser53Ala p.S53A ENST00000378485 NM_001025233.1 53 Tct/Gct 0 Missense_Mutation T 62 CLLU1OS SNP 12 T G 91342744 91342744 Broad RASAL1 8437 broad.mit.edu GRCh37 12 113542007 113542007 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000546530.1:c.1930G>A p.Asp644Asn p.D644N ENST00000546530 NM_004658.2 644 Gac/Aac 0 Missense_Mutation C 30 RASAL1 SNP 12 C T 112026390 112026390 Broad TPCN1 53373 broad.mit.edu GRCh37 12 113729438 113729438 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000550785.1:c.2200C>T p.His734Tyr p.H734Y ENST00000550785 NM_001143819.1 734 Cac/Tac 0 Missense_Mutation C 21 TPCN1 SNP 12 C T 112213821 112213821 Broad WSB2 55884 broad.mit.edu GRCh37 12 118472046 118472046 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000315436.3:c.1170A>G p.Pro390= p.P390= ENST00000315436 NM_018639.4 390 ccA/ccG 0 Silent T 63 WSB2 SNP 12 T C 116956429 116956429 Broad RPLP0 6175 broad.mit.edu GRCh37 12 120635197 120635197 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000551150.1:c.720T>C p.Ser240= p.S240= ENST00000551150 240 tcT/tcC 0 Silent A 15 RPLP0 SNP 12 A G 119119580 119119580 Broad MTUS2 23281 broad.mit.edu GRCh37 13 29599284 29599284 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000431530.3:c.479G>T p.Arg160Met p.R160M ENST00000431530 NM_001033602.2 160 aGg/aTg 0 Missense_Mutation G 35 MTUS2 SNP 13 G T 28497284 28497284 Broad HMGB1 3146 broad.mit.edu GRCh37 13 31037343 31037343 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000405805.1:c.296+1G>A p.X99_splice ENST00000405805 0 Splice_Site_SNP C 19 HMGB1 SNP 13 C T 29935343 29935343 Broad GPC5 2262 broad.mit.edu GRCh37 13 92380859 92380859 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000377067.3:c.1094A>G p.Glu365Gly p.E365G ENST00000377067 NM_004466.4 365 gAg/gGg 0 Missense_Mutation A 11 GPC5 SNP 13 A G 91178860 91178860 Broad MCF2L 23263 broad.mit.edu GRCh37 13 113634001 113634001 + intron_variant Intron SNP C C G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000535094.2:c.79+10229C>G *27* ENST00000535094 NM_001112732.2 0 Missense_Mutation C 30 MCF2L SNP 13 C G 112682002 112682002 Broad GAS6 2621 broad.mit.edu GRCh37 13 114541127 114541127 null Silent SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x 0 Silent C 30 GAS6 SNP 13 C T 113572816 113572816 Broad FANCM 57697 broad.mit.edu GRCh37 14 45644576 45644576 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000267430.5:c.2619T>C p.Gly873= p.G873= ENST00000267430 NM_020937.2 873 ggT/ggC 0 Silent T 57 FANCM SNP 14 T C 44714326 44714326 Broad KLHDC2 23588 broad.mit.edu GRCh37 14 50244914 50244914 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000298307.5:c.486G>A p.Gly162= p.G162= ENST00000298307 NM_014315.2 162 ggG/ggA 0 Silent G 44 KLHDC2 SNP 14 G A 49314664 49314664 Broad PCNXL4 64430 broad.mit.edu GRCh37 14 60581979 60581979 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000317623.4:c.455A>G p.Asn152Ser p.N152S ENST00000317623 NM_022495.5 152 aAt/aGt 0 Missense_Mutation A 4 C14orf135 SNP 14 A G 59651732 59651732 Broad BAG5 9529 broad.mit.edu GRCh37 14 104027422 104027422 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000337322.4:c.203T>G p.Val68Gly p.V68G ENST00000337322 NM_001015049.2 68 gTt/gGt 0 Missense_Mutation A 2 BAG5 SNP 14 A C 103097175 103097175 Broad MKRN3 7681 broad.mit.edu GRCh37 15 23811155 23811155 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000314520.3:c.226C>T p.Pro76Ser p.P76S ENST00000314520 NM_005664.3 76 Cca/Tca 0 Missense_Mutation C 22 MKRN3 SNP 15 C T 21362248 21362248 Broad CYP19A1 1588 broad.mit.edu GRCh37 15 51520007 51520007 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000396402.1:c.420C>T p.Leu140= p.L140= ENST00000396402 NM_000103.3 140 ctC/ctT 0 Silent G 33 CYP19A1 SNP 15 G A 49307299 49307299 Broad LMF1 64788 broad.mit.edu GRCh37 16 919942 919942 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000262301.11:c.1357T>A p.Cys453Ser p.C453S ENST00000262301 NM_022773.2 453 Tgc/Agc 0 Missense_Mutation A 7 LMF1 SNP 16 A T 859943 859943 Broad LMF1 64788 broad.mit.edu GRCh37 16 920799 920799 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000262301.11:c.1162A>T p.Ser388Cys p.S388C ENST00000262301 NM_022773.2 388 Agc/Tgc 0 Missense_Mutation T 54 LMF1 SNP 16 T A 860800 860800 Broad LMF1 64788 broad.mit.edu GRCh37 16 929647 929647 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000262301.11:c.820G>A p.Glu274Lys p.E274K ENST00000262301 NM_022773.2 274 Gag/Aag 0 Missense_Mutation C 31 LMF1 SNP 16 C T 869648 869648 Broad CASKIN1 57524 broad.mit.edu GRCh37 16 2235361 2235361 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000343516.6:c.1097C>T p.Ser366Leu p.S366L ENST00000343516 NM_020764.3 366 tCg/tTg 0 Missense_Mutation G 37 CASKIN1 SNP 16 G A 2175362 2175362 Broad ABCC1 4363 broad.mit.edu GRCh37 16 16208672 16208672 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000399410.3:c.3129G>A p.Leu1043= p.L1043= ENST00000399410 NM_004996.3 1043 ttG/ttA 0 Silent G 47 ABCC1 SNP 16 G A 16116173 16116173 Broad TP53 7157 broad.mit.edu GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T rs11540652 byHapMap TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 Missense_Mutation C 23 TP53 SNP 17 C T 7518263 7518263 Broad WDR16 146845 broad.mit.edu GRCh37 17 9536212 9536212 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000352665.5:c.1182C>T p.Asn394= p.N394= ENST00000352665 NM_145054.4 394 aaC/aaT 0 Silent C 19 WDR16 SNP 17 C T 9476937 9476937 Broad SHMT1 6470 broad.mit.edu GRCh37 17 18232093 18232093 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000316694.3:c.1423T>G p.Phe475Val p.F475V ENST00000316694 NM_004169.3 475 Ttc/Gtc 0 Missense_Mutation A 3 SHMT1 SNP 17 A C 18172818 18172818 Broad GAS2L2 246176 broad.mit.edu GRCh37 17 34077126 34077126 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000254466.6:c.597G>C p.Gln199His p.Q199H ENST00000254466 NM_139285.3 199 caG/caC 0 Missense_Mutation C 28 GAS2L2 SNP 17 C G 31101239 31101239 Broad KRT31 3881 broad.mit.edu GRCh37 17 39553692 39553692 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000251645.2:c.100G>C p.Ala34Pro p.A34P ENST00000251645 NM_002277.2 34 Gcc/Ccc 0 Missense_Mutation C 26 KRT31 SNP 17 C G 36807218 36807218 Broad KLHL11 55175 broad.mit.edu GRCh37 17 40010062 40010062 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000319121.3:c.2057G>A p.Arg686Lys p.R686K ENST00000319121 NM_018143.1 686 aGa/aAa 0 Missense_Mutation C 32 KLHL11 SNP 17 C T 37263588 37263588 Broad TUBG2 27175 broad.mit.edu GRCh37 17 40817779 40817779 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000251412.7:c.777G>C p.Ser259= p.S259= ENST00000251412 NM_016437.2 259 tcG/tcC 0 Silent G 38 TUBG2 SNP 17 G C 38071305 38071305 Broad MPP3 4356 broad.mit.edu GRCh37 17 41909254 41909254 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000398389.4:c.21C>G p.Asp7Glu p.D7E ENST00000398389 NM_001932.4 7 gaC/gaG 0 Missense_Mutation G 36 MPP3 SNP 17 G C 39264780 39264780 Broad NGFR 4804 broad.mit.edu GRCh37 17 47590150 47590150 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000172229.3:c.1063G>T p.Ala355Ser p.A355S ENST00000172229 NM_002507.3 355 Gcg/Tcg 0 Missense_Mutation G 46 NGFR SNP 17 G T 44945149 44945149 Broad CLTC 1213 broad.mit.edu GRCh37 17 57760368 57760368 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000269122.3:c.3866A>G p.Tyr1289Cys p.Y1289C ENST00000269122 NM_004859.3 1289 tAc/tGc 0 Missense_Mutation A 14 CLTC SNP 17 A G 55115150 55115150 Broad AZI1 22994 broad.mit.edu GRCh37 17 79164787 79164787 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000450824.2:c.2863C>G p.Leu955Val p.L955V ENST00000450824 955 Ctt/Gtt 0 Missense_Mutation G 34 AZI1 SNP 17 G C 76779382 76779382 Broad LAMA3 3909 broad.mit.edu GRCh37 18 21329425 21329425 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000313654.9:c.599G>A p.Arg200Gln p.R200Q ENST00000313654 NM_198129.1 200 cGg/cAg 0 Missense_Mutation G 39 LAMA3 SNP 18 G A 19583423 19583423 Broad ILF3 3609 broad.mit.edu GRCh37 19 10792757 10792757 + synonymous_variant Silent SNP G G A rs35968299 Unknown TCGA-23-1032-01 TCGA-23-1032-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000449870.1:c.1269G>A p.Gln423= p.Q423= ENST00000449870 NM_017620.2 423 caG/caA 0 Silent G 33 ILF3 SNP 19 G A 10653757 10653757 Broad IFNL2 282616 broad.mit.edu GRCh37 19 39759799 39759799 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000331982.5:c.200C>G p.Ser67Trp p.S67W ENST00000331982 NM_172138.1 67 tCg/tGg 0 Missense_Mutation C 31 IL28A SNP 19 C G 44451639 44451639 Broad GRWD1 83743 broad.mit.edu GRCh37 19 48956277 48956277 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000253237.5:c.1336G>A p.Val446Ile p.V446I ENST00000253237 NM_031485.3 446 Gtc/Atc 0 Missense_Mutation G 40 GRWD1 SNP 19 G A 53648089 53648089 Broad RPS9 6203 broad.mit.edu GRCh37 19 54711372 54711372 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000302907.4:c.514C>A p.Arg172Ser p.R172S ENST00000302907 NM_001013.3 172 Cgc/Agc 0 Missense_Mutation C 23 RPS9 SNP 19 C A 59403184 59403184 Broad DTNB 1838 broad.mit.edu GRCh37 2 25678274 25678274 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000406818.3:c.1169G>A p.Arg390His p.R390H ENST00000406818 NM_001256303.1 390 cGt/cAt 0 Missense_Mutation C 23 DTNB SNP 2 C T 25531778 25531778 Broad ANKRD36 375248 broad.mit.edu GRCh37 2 97779626 97779627 + stop_gained Nonsense_Mutation DNP CC CC GT novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000420699.2:c.150_151delinsGT p.Tyr50_Leu51delinsTer p.Y50_L51delins* ENST00000420699 NM_001164315.1 50 taCCtt/taGTtt 0 Nonsense_Mutation CC 18 ANKRD36 DNP 2 CC GT 97143354 97143353 Broad ZEB2 9839 broad.mit.edu GRCh37 2 145187410 145187410 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000558170.2:c.257A>G p.Asp86Gly p.D86G ENST00000558170 NM_014795.3 86 gAt/gGt 0 Missense_Mutation T 50 ZEB2 SNP 2 T C 144903880 144903880 Broad FMNL2 114793 broad.mit.edu GRCh37 2 153476069 153476069 + synonymous_variant Silent SNP C C A rs72290335 Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000288670.9:c.1674C>A p.Pro558= p.P558= ENST00000288670 NM_052905.3 558 ccC/ccA 0 Silent C 22 FMNL2 SNP 2 C A 153184315 153184315 Broad FMNL2 114793 broad.mit.edu GRCh37 2 153476072 153476072 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000288670.9:c.1677T>C p.Pro559= p.P559= ENST00000288670 NM_052905.3 559 ccT/ccC 0 Silent T 54 FMNL2 SNP 2 T C 153184318 153184318 Broad XIRP2 129446 broad.mit.edu GRCh37 2 168114746 168114746 + 3_prime_UTR_variant 3'UTR SNP C C A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000409195.1:c.*419C>A *140* ENST00000409195 NM_152381.5 0 Missense_Mutation C 26 XIRP2 SNP 2 C A 167822992 167822992 Broad TTN 7273 broad.mit.edu GRCh37 2 179585662 179585662 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.23084C>T p.Ala7695Val p.A7695V ENST00000589042 NM_001267550.1 7695 gCg/gTg 0 Missense_Mutation G 38 TTN SNP 2 G A 179293907 179293907 Broad TTN 7273 broad.mit.edu GRCh37 2 179611871 179611872 + intron_variant Intron DNP TG TG CT novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.11312-5224_11312-5223delinsAG *3771* ENST00000589042 NM_001267550.1 0 Missense_Mutation TG 59 TTN DNP 2 TG CT 179320117 179320116 Broad RAPH1 65059 broad.mit.edu GRCh37 2 204306134 204306134 + splice_region_variant,synonymous_variant Splice_Region SNP G G T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000319170.5:c.1779C>A p.Ala593= p.A593= ENST00000319170 NM_213589.1 593 gcC/gcA 0 Silent G 47 RAPH1 SNP 2 G T 204014379 204014379 Broad ABCA12 26154 broad.mit.edu GRCh37 2 215845230 215845230 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000272895.7:c.4717C>T p.His1573Tyr p.H1573Y ENST00000272895 NM_173076.2 1573 Cac/Tac 0 Missense_Mutation G 45 ABCA12 SNP 2 G A 215553475 215553475 Broad SLC16A14 151473 broad.mit.edu GRCh37 2 230910735 230910735 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000295190.4:c.1107C>A p.Ile369= p.I369= ENST00000295190 NM_152527.4 369 atC/atA 0 Silent G 41 SLC16A14 SNP 2 G T 230618979 230618979 Broad UGT1A7 54577 broad.mit.edu GRCh37 2 234591343 234591343 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000373426.3:c.760C>T p.Arg254Ter p.R254* ENST00000373426 NM_019077.2 254 Cga/Tga 0 Nonsense_Mutation C 27 UGT1A7 SNP 2 C T 234256082 234256082 Broad ATRN 8455 broad.mit.edu GRCh37 20 3578566 3578566 + synonymous_variant Silent SNP T T A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000262919.5:c.3483T>A p.Ile1161= p.I1161= ENST00000262919 NM_139321.2 1161 atT/atA 0 Silent T 63 ATRN SNP 20 T A 3526566 3526566 Broad TTLL9 164395 broad.mit.edu GRCh37 20 30530752 30530752 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000375938.4:c.1248C>T p.Cys416= p.C416= ENST00000375938 416 tgC/tgT 0 Silent C 27 TTLL9 SNP 20 C T 29994413 29994413 Broad PTGIS 5740 broad.mit.edu GRCh37 20 48129799 48129799 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000244043.4:c.1025-1G>A p.X342_splice ENST00000244043 NM_000961.3 0 Splice_Site_SNP C 32 PTGIS SNP 20 C T 47563206 47563206 Broad CDH4 1002 broad.mit.edu GRCh37 20 60419727 60419727 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000360469.5:c.580C>T p.Arg194Trp p.R194W ENST00000360469 NM_001794.3 194 Cgg/Tgg 0 Missense_Mutation C 23 CDH4 SNP 20 C T 59853122 59853122 Broad CLDN17 26285 broad.mit.edu GRCh37 21 31538436 31538436 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000286808.3:c.500T>G p.Leu167Arg p.L167R ENST00000286808 NM_012131.2 167 cTt/cGt 0 Missense_Mutation A 3 CLDN17 SNP 21 A C 30460307 30460307 Broad MN1 4330 broad.mit.edu GRCh37 22 28193244 28193244 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000302326.4:c.3288G>A p.Pro1096= p.P1096= ENST00000302326 NM_002430.2 1096 ccG/ccA 0 Silent C 31 MN1 SNP 22 C T 26523244 26523244 Broad DEPDC5 9681 broad.mit.edu GRCh37 22 32162610 32162610 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000382112.3:c.319C>T p.Gln107Ter p.Q107* ENST00000382112 NM_001136029.2 107 Cag/Tag 0 Nonsense_Mutation C 29 DEPDC5 SNP 22 C T 30492610 30492610 Broad EFCAB6 64800 broad.mit.edu GRCh37 22 44011710 44011710 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000262726.7:c.2558C>G p.Ser853Cys p.S853C ENST00000262726 NM_022785.3 853 tCt/tGt 0 Missense_Mutation G 33 EFCAB6 SNP 22 G C 42343043 42343043 Broad ROBO2 6092 broad.mit.edu GRCh37 3 77651424 77651424 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000487694.3:c.2966T>A p.Ile989Asn p.I989N ENST00000487694 NM_001128929.2 989 aTt/aAt 0 Missense_Mutation T 52 ROBO2 SNP 3 T A 77734114 77734114 Broad GPR156 165829 broad.mit.edu GRCh37 3 119892318 119892318 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000464295.1:c.934-1G>A p.X312_splice ENST00000464295 0 Splice_Site_SNP C 28 GPR156 SNP 3 C T 121375008 121375008 Broad IGSF10 285313 broad.mit.edu GRCh37 3 151163627 151163627 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000282466.3:c.4142C>T p.Thr1381Ile p.T1381I ENST00000282466 NM_178822.4 1381 aCa/aTa 0 Missense_Mutation G 48 IGSF10 SNP 3 G A 152646317 152646317 Broad SMC4 10051 broad.mit.edu GRCh37 3 160120593 160120593 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000357388.3:c.448G>A p.Asp150Asn p.D150N ENST00000357388 NM_001002800.1 150 Gat/Aat 0 Missense_Mutation G 45 SMC4 SNP 3 G A 161603287 161603287 Broad AFM 173 broad.mit.edu GRCh37 4 74351669 74351669 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000226355.3:c.361A>G p.Arg121Gly p.R121G ENST00000226355 NM_001133.2 121 Aga/Gga 0 Missense_Mutation A 3 AFM SNP 4 A G 74570533 74570533 Broad WDR17 116966 broad.mit.edu GRCh37 4 177046420 177046420 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000280190.4:c.776T>C p.Ile259Thr p.I259T ENST00000280190 259 aTa/aCa 0 Missense_Mutation T 49 WDR17 SNP 4 T C 177283414 177283414 Broad TUBB7P broad.mit.edu GRCh37 4 190903891 190903892 + non_coding_transcript_exon_variant RNA DNP TG TG AA novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000428444.2:n.1091_1092delinsTT *364* ENST00000428444 0 Missense_Mutation TG 55 TUBB4Q DNP 4 TG AA 191140886 191140885 Broad ZNF608 57507 broad.mit.edu GRCh37 5 123984641 123984641 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000306315.5:c.1436G>A p.Arg479Gln p.R479Q ENST00000306315 NM_020747.2 479 cGa/cAa 0 Missense_Mutation C 31 ZNF608 SNP 5 C T 124012540 124012540 Broad PCDHA2 56146 broad.mit.edu GRCh37 5 140175046 140175046 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000526136.1:c.497C>A p.Ala166Asp p.A166D ENST00000526136 NM_018905.2 166 gCt/gAt 0 Missense_Mutation C 28 PCDHA2 SNP 5 C A 140155230 140155230 Broad HSPA1L 3305 broad.mit.edu GRCh37 6 31778436 31778436 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000375654.4:c.1314C>A p.Pro438= p.P438= ENST00000375654 NM_005527.3 438 ccC/ccA 0 Silent G 39 HSPA1L SNP 6 G T 31886415 31886415 Broad GPRC6A 222545 broad.mit.edu GRCh37 6 117130679 117130679 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000310357.3:c.296T>A p.Ile99Asn p.I99N ENST00000310357 NM_148963.2 99 aTc/aAc 0 Missense_Mutation A 12 GPRC6A SNP 6 A T 117237372 117237372 Broad NMBR 4829 broad.mit.edu GRCh37 6 142409491 142409491 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000258042.1:c.305C>T p.Ser102Leu p.S102L ENST00000258042 NM_002511.2 102 tCg/tTg 0 Missense_Mutation G 37 NMBR SNP 6 G A 142451184 142451184 Broad THBS2 7058 broad.mit.edu GRCh37 6 169648825 169648825 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000366787.3:c.296C>T p.Thr99Met p.T99M ENST00000366787 NM_003247.2 99 aCg/aTg 0 Missense_Mutation G 40 THBS2 SNP 6 G A 169390750 169390750 Broad HOXA11 3207 broad.mit.edu GRCh37 7 27224343 27224343 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000006015.3:c.421G>C p.Asp141His p.D141H ENST00000006015 NM_005523.5 141 Gac/Cac 0 Missense_Mutation C 31 HOXA11 SNP 7 C G 27190868 27190868 Broad GRM3 2913 broad.mit.edu GRCh37 7 86469005 86469005 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000361669.2:c.2175A>G p.Thr725= p.T725= ENST00000361669 NM_000840.2 725 acA/acG 0 Silent A 7 GRM3 SNP 7 A G 86306941 86306941 Broad LRRN3 54674 broad.mit.edu GRCh37 7 110763551 110763551 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000451085.1:c.723C>T p.Ile241= p.I241= ENST00000451085 NM_001099660.1 241 atC/atT 0 Silent C 32 LRRN3 SNP 7 C T 110550787 110550787 Broad PPP1R3A 5506 broad.mit.edu GRCh37 7 113519408 113519408 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000284601.3:c.1739A>T p.Asp580Val p.D580V ENST00000284601 NM_002711.3 580 gAt/gTt 0 Missense_Mutation T 50 PPP1R3A SNP 7 T A 113306644 113306644 Broad TMEM176B 28959 broad.mit.edu GRCh37 7 150493653 150493653 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000447204.2:c.5C>T p.Thr2Met p.T2M ENST00000447204 NM_014020.3 2 aCg/aTg 0 Missense_Mutation G 40 TMEM176B SNP 7 G A 150124586 150124586 Broad TEX15 56154 broad.mit.edu GRCh37 8 30706056 30706056 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000256246.2:c.478T>C p.Ser160Pro p.S160P ENST00000256246 NM_031271.3 160 Tct/Cct 0 Missense_Mutation A 9 TEX15 SNP 8 A G 30825598 30825598 Broad IDO2 169355 broad.mit.edu GRCh37 8 39840218 39840218 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000502986.2:c.402C>A p.Asn134Lys p.N134K ENST00000502986 NM_194294.2 134 aaC/aaA 0 Missense_Mutation C 20 IDO2 SNP 8 C A 39959375 39959375 Broad SPAG1 6674 broad.mit.edu GRCh37 8 101253167 101253167 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000388798.2:c.2698C>T p.Leu900= p.L900= ENST00000388798 NM_003114.4 900 Ctg/Ttg 0 Silent C 28 SPAG1 SNP 8 C T 101322343 101322343 Broad FOCAD 54914 broad.mit.edu GRCh37 9 20874701 20874701 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000380249.1:c.2212C>G p.Pro738Ala p.P738A ENST00000380249 NM_017794.3 738 Cct/Gct 0 Missense_Mutation C 30 KIAA1797 SNP 9 C G 20864701 20864701 Broad CDKL5 6792 broad.mit.edu GRCh37 X 18668702 18668702 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000379989.3:c.2970C>A p.Thr990= p.T990= ENST00000379989 NM_001037343.1 990 acC/acA 0 Silent C 22 CDKL5 SNP 23 C A 18578623 18578623 Broad BMP15 9210 broad.mit.edu GRCh37 X 50659057 50659057 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000252677.3:c.629A>T p.Gln210Leu p.Q210L ENST00000252677 NM_005448.2 210 cAg/cTg 0 Missense_Mutation A 7 BMP15 SNP 23 A T 50675797 50675797 Broad MTMR8 55613 broad.mit.edu GRCh37 X 63574698 63574698 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000374852.3:c.427A>T p.Asn143Tyr p.N143Y ENST00000374852 NM_017677.3 143 Aac/Tac 0 Missense_Mutation T 63 MTMR8 SNP 23 T A 63491423 63491423 Broad DACH2 117154 broad.mit.edu GRCh37 X 86069730 86069730 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000373125.4:c.1577A>T p.Lys526Met p.K526M ENST00000373125 NM_053281.3 526 aAg/aTg 0 Missense_Mutation A 3 DACH2 SNP 23 A T 85956386 85956386 Broad DIAPH2 1730 broad.mit.edu GRCh37 X 96502831 96502831 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000324765.8:c.2837A>T p.Lys946Met p.K946M ENST00000324765 946 aAg/aTg 0 Missense_Mutation A 3 DIAPH2 SNP 23 A T 96389487 96389487 Broad SLC25A14 9016 broad.mit.edu GRCh37 X 129474302 129474302 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown x x x ENST00000218197.5:c.50C>T p.Ala17Val p.A17V ENST00000218197 NM_022810.1 17 gCa/gTa 0 Missense_Mutation C 25 SLC25A14 SNP 23 C T 129301983 129301983 Broad RANBP1 5902 broad.mit.edu GRCh37 22 20109874 20109899 + frameshift_variant Frame_Shift_Del DEL CAAGGAGAAAGGGGCCATCCGCCTCC CAAGGAGAAAGGGGCCATCCGCCTCC - novel Unknown TCGA-23-1032-01 TCGA-23-1032-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000331821.3:c.240_265del p.Lys81HisfsTer27 p.K81Hfs*27 ENST00000331821 80 caCAAGGAGAAAGGGGCCATCCGCCTCCtc/catc 0 Frame_Shift_Del CAAGGAGAAAGGGGCCATCCGCCTCC 17 RANBP1 DEL 22 - CAAGGAGAAAGGGGCCATCCGCCTCC 18489899 18489874 Broad HTT 3064 genome.wustl.edu GRCh37 4 3176802 3176802 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000355072.5:c.4375C>G p.Arg1459Gly p.R1459G ENST00000355072 NM_002111.6 1459 Cgg/Ggg 0 Missense_Mutation C 19 HTT SNP 4 C G 3146600 3146600 WashU RGS12 6002 genome.wustl.edu GRCh37 4 3319414 3319414 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000344733.5:c.1517C>G p.Ser506Cys p.S506C ENST00000344733 NM_198229.2 506 tCt/tGt 0 Missense_Mutation C 32 RGS12 SNP 4 C G 3289212 3289212 WashU ZBTB49 166793 genome.wustl.edu GRCh37 4 4304434 4304434 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337872.4:c.871G>C p.Asp291His p.D291H ENST00000337872 NM_145291.3 291 Gac/Cac 0 Missense_Mutation G 33 ZBTB49 SNP 4 G C 4355335 4355335 WashU RNF216 54476 genome.wustl.edu GRCh37 7 5780945 5780945 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389902.3:c.703T>G p.Phe235Val p.F235V ENST00000389902 235 Ttc/Gtc 0 Missense_Mutation A 3 RNF216 SNP 7 A C 5747471 5747471 WashU TP53 7157 genome.wustl.edu GRCh37 17 7579389 7579389 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.298C>T p.Gln100Ter p.Q100* ENST00000269305 NM_001126112.2 100 Cag/Tag 0 Nonsense_Mutation G 47 TP53 SNP 17 A A 7520114 7520114 WashU DNAH2 146754 genome.wustl.edu GRCh37 17 7662788 7662788 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000572933.1:c.2497G>A p.Glu833Lys p.E833K ENST00000572933 833 Gag/Aag 0 Missense_Mutation G 41 DNAH2 SNP 17 G A 7603513 7603513 WashU TRMT44 152992 genome.wustl.edu GRCh37 4 8465818 8465818 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389737.4:c.1310G>T p.Arg437Met p.R437M ENST00000389737 NM_152544.2 437 aGg/aTg 0 Missense_Mutation G 35 C4orf23 SNP 4 G T 8516718 8516718 WashU UBE4B 10277 genome.wustl.edu GRCh37 1 10238758 10238758 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343090.6:c.3582G>C p.Gly1194= p.G1194= ENST00000343090 NM_001105562.2 1194 ggG/ggC 0 Silent G 41 UBE4B SNP 1 G C 10161345 10161345 WashU LRP6 4040 genome.wustl.edu GRCh37 12 12274064 12274064 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261349.4:c.4838C>A p.Ser1613Tyr p.S1613Y ENST00000261349 NM_002336.2 1613 tCc/tAc 0 Missense_Mutation G 41 LRP6 SNP 12 G T 12165331 12165331 WashU AC005863.1 genome.wustl.edu GRCh37 17 14683193 14683193 + non_coding_transcript_exon_variant RNA SNP A A T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379640.1:n.328T>A *110* ENST00000379640 0 Nonsense_Mutation A 6 uc002goi.1 SNP 17 A T 14623918 14623918 WashU ARHGEF19 128272 genome.wustl.edu GRCh37 1 16525128 16525128 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270747.3:c.2363A>C p.Lys788Thr p.K788T ENST00000270747 NM_153213.3 788 aAg/aCg 0 Missense_Mutation T 56 ARHGEF19 SNP 1 T G 16397715 16397715 WashU BNC2 54796 genome.wustl.edu GRCh37 9 16437047 16437047 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380672.4:c.1145C>G p.Pro382Arg p.P382R ENST00000380672 NM_017637.5 382 cCc/cGc 0 Missense_Mutation G 43 BNC2 SNP 9 G C 16427047 16427047 WashU PRPS1L1 221823 genome.wustl.edu GRCh37 7 18067234 18067234 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000506618.2:c.172A>G p.Ser58Gly p.S58G ENST00000506618 NM_175886.2 58 Agt/Ggt 0 Missense_Mutation T 54 PRPS1L1 SNP 7 T C 18033759 18033759 WashU BEND2 139105 genome.wustl.edu GRCh37 X 18234734 18234734 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380033.4:c.145G>A p.Val49Ile p.V49I ENST00000380033 NM_153346.4 49 Gtc/Atc 0 Missense_Mutation C 17 BEND2 SNP 23 C T 18144655 18144655 WashU CDKAL1 54901 genome.wustl.edu GRCh37 6 20846328 20846328 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274695.4:c.661T>A p.Cys221Ser p.C221S ENST00000274695 NM_017774.3 221 Tgc/Agc 0 Missense_Mutation T 55 CDKAL1 SNP 6 T A 20954307 20954307 WashU MYH7 4625 genome.wustl.edu GRCh37 14 23887512 23887512 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355349.3:c.4076G>A p.Arg1359His p.R1359H ENST00000355349 NM_000257.2 1359 cGc/cAc 0 Missense_Mutation C 27 MYH7 SNP 14 C T 22957352 22957352 WashU PALB2 79728 genome.wustl.edu GRCh37 16 23646320 23646320 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000261584.4:c.1547G>T p.Arg516Ile p.R516I ENST00000261584 NM_024675.3 516 aGa/aTa 0 Missense_Mutation C 32 PALB2 SNP 16 C A 23553821 23553821 WashU TDP2 51567 genome.wustl.edu GRCh37 6 24666798 24666798 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378198.4:c.207C>A p.Ser69Arg p.S69R ENST00000378198 69 agC/agA 0 Missense_Mutation G 38 TDP2 SNP 6 G T 24774777 24774777 WashU ANAPC4 29945 genome.wustl.edu GRCh37 4 25417157 25417157 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315368.3:c.1896A>G p.Arg632= p.R632= ENST00000315368 NM_013367.2 632 agA/agG 0 Silent A 9 ANAPC4 SNP 4 A G 25026255 25026255 WashU NFE2L3 9603 genome.wustl.edu GRCh37 7 26224213 26224213 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000056233.3:c.895G>T p.Ala299Ser p.A299S ENST00000056233 NM_004289.6 299 Gca/Tca 0 Missense_Mutation G 34 NFE2L3 SNP 7 G T 26190738 26190738 WashU MAPRE3 22924 genome.wustl.edu GRCh37 2 27245110 27245110 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000233121.2:c.24A>G p.Thr8= p.T8= ENST00000233121 8 acA/acG 0 Silent A 8 MAPRE3 SNP 2 A G 27098614 27098614 WashU DSG1 1828 genome.wustl.edu GRCh37 18 28914029 28914029 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257192.4:c.869T>A p.Ile290Asn p.I290N ENST00000257192 NM_001942.2 290 aTt/aAt 0 Missense_Mutation T 52 DSG1 SNP 18 T A 27168027 27168027 WashU CHRNA2 1135 genome.wustl.edu GRCh37 8 27327391 27327391 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000407991.1:c.181C>T p.Arg61Trp p.R61W ENST00000407991 NM_000742.3 61 Cgg/Tgg 0 Missense_Mutation G 39 CHRNA2 SNP 8 G A 27383308 27383308 WashU DCAF8L1 139425 genome.wustl.edu GRCh37 X 27998266 27998266 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000441525.1:c.1186G>A p.Val396Ile p.V396I ENST00000441525 NM_001017930.1 396 Gtt/Att 0 Missense_Mutation C 19 DCAF8L1 SNP 23 C T 27908187 27908187 WashU SF3A1 10291 genome.wustl.edu GRCh37 22 30742390 30742390 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000215793.8:c.304A>T p.Lys102Ter p.K102* ENST00000215793 NM_005877.4 102 Aag/Tag 0 Nonsense_Mutation T 63 SF3A1 SNP 22 T A 29072390 29072390 WashU OR2J1 26708 genome.wustl.edu GRCh37 6 29069645 29069645 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377171.3:c.926A>T p.Glu309Val p.E309V ENST00000377171 309 gAa/gTa 0 Missense_Mutation A 9 OR2J1 SNP 6 A T 29177624 29177624 WashU OR2J3 442186 genome.wustl.edu GRCh37 6 29079871 29079871 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C A C A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377169.1:c.204C>A p.Asn68Lys p.N68K ENST00000377169 NM_001005216.3 68 aaC/aaA 0 Missense_Mutation C 18 OR2J3 SNP 6 C A 29187850 29187850 WashU SEZ6L2 26470 genome.wustl.edu GRCh37 16 29909243 29909243 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308713.5:c.142T>A p.Ser48Thr p.S48T ENST00000308713 NM_001114099.2 48 Tct/Act 0 Missense_Mutation A 11 SEZ6L2 SNP 16 T T 29816744 29816744 WashU TRIM39 56658 genome.wustl.edu GRCh37 6 30309785 30309785 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376656.4:c.1306G>A p.Gly436Arg p.G436R ENST00000376656 NM_021253.3 436 Ggg/Agg 0 Missense_Mutation G 47 TRIM39 SNP 6 G A 30417764 30417764 WashU ATAT1 79969 genome.wustl.edu GRCh37 6 30610562 30610562 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330083.5:c.706G>C p.Glu236Gln p.E236Q ENST00000330083 NM_001031722.2 236 Gag/Cag 0 Missense_Mutation G 41 C6orf134 SNP 6 G C 30718541 30718541 WashU GALNT14 79623 genome.wustl.edu GRCh37 2 31215801 31215801 + intron_variant Intron SNP G G A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000324589.5:c.315-26633C>T *105* ENST00000324589 NM_001253826.1 0 Missense_Mutation G 38 GALNT14 SNP 2 G A 31069305 31069305 WashU C16orf58 64755 genome.wustl.edu GRCh37 16 31505097 31505097 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327237.2:c.785G>A p.Gly262Glu p.G262E ENST00000327237 NM_022744.3 262 gGa/gAa 0 Missense_Mutation C 30 C16orf58 SNP 16 C T 31412598 31412598 WashU PGAP3 93210 genome.wustl.edu GRCh37 17 37829112 37829112 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000300658.4:c.907G>A p.Glu303Lys p.E303K ENST00000300658 NM_033419.3 303 Gaa/Aaa 0 Missense_Mutation C 30 PGAP3 SNP 17 C T 35082638 35082638 WashU G6PC 2538 genome.wustl.edu GRCh37 17 41063279 41063279 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253801.2:c.910G>A p.Val304Ile p.V304I ENST00000253801 NM_000151.3 304 Gtc/Atc 0 Missense_Mutation G 40 G6PC SNP 17 G A 38316805 38316805 WashU ENTHD1 150350 genome.wustl.edu GRCh37 22 40283672 40283672 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000325157.6:c.81C>T p.Asn27= p.N27= ENST00000325157 NM_152512.3 27 aaC/aaT 0 Silent G 40 ENTHD1 SNP 22 G A 38613618 38613618 WashU DNAJB7 150353 genome.wustl.edu GRCh37 22 41257669 41257669 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307221.4:c.330C>G p.His110Gln p.H110Q ENST00000307221 NM_145174.1 110 caC/caG 0 Missense_Mutation G 36 DNAJB7 SNP 22 G C 39587615 39587615 WashU PRPH2 5961 genome.wustl.edu GRCh37 6 42672306 42672306 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000230381.5:c.625G>A p.Val209Ile p.V209I ENST00000230381 NM_000322.4 209 Gtc/Atc 0 Missense_Mutation C 19 PRPH2 SNP 6 C T 42780284 42780284 WashU ABCC10 89845 genome.wustl.edu GRCh37 6 43416922 43416922 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372530.4:c.4183G>T p.Ala1395Ser p.A1395S ENST00000372530 NM_001198934.1 1395 Gct/Tct 0 Missense_Mutation G 42 ABCC10 SNP 6 G T 43524900 43524900 WashU RYR1 6261 genome.wustl.edu GRCh37 19 39051935 39051935 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000359596.3:c.12465T>G p.His4155Gln p.H4155Q ENST00000359596 4155 caT/caG 0 Missense_Mutation T 51 RYR1 SNP 19 T G 43743775 43743775 WashU SLC35B2 347734 genome.wustl.edu GRCh37 6 44224594 44224594 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000393812.3:c.33G>A p.Leu11= p.L11= ENST00000393812 NM_178148.2 11 ctG/ctA 0 Silent C 21 SLC35B2 SNP 6 C T 44332572 44332572 WashU GABRG1 2565 genome.wustl.edu GRCh37 4 46060357 46060357 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C A C A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295452.4:c.793G>T p.Asp265Tyr p.D265Y ENST00000295452 NM_173536.3 265 Gac/Tac 0 Missense_Mutation C 29 GABRG1 SNP 4 C A 45755114 45755114 WashU GYLTL1B 120071 genome.wustl.edu GRCh37 11 45948276 45948276 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000531526.1:c.1179G>A p.Leu393= p.L393= ENST00000531526 NM_152312.3 393 ctG/ctA 0 Silent G 47 GYLTL1B SNP 11 G A 45904852 45904852 WashU RTP3 83597 genome.wustl.edu GRCh37 3 46542220 46542220 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296142.3:c.530C>A p.Pro177Gln p.P177Q ENST00000296142 NM_031440.1 177 cCa/cAa 0 Missense_Mutation C 21 RTP3 SNP 3 C A 46517224 46517224 WashU TFAP2D 83741 genome.wustl.edu GRCh37 6 50740458 50740458 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000008391.3:c.1240A>T p.Thr414Ser p.T414S ENST00000008391 NM_172238.3 414 Act/Tct 0 Missense_Mutation A 14 TFAP2D SNP 6 A T 50848417 50848417 WashU PKHD1 5314 genome.wustl.edu GRCh37 6 51890438 51890438 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371117.3:c.4170G>T p.Arg1390= p.R1390= ENST00000371117 NM_138694.3 1390 cgG/cgT 0 Silent C 30 PKHD1 SNP 6 C A 51998397 51998397 WashU FTO 79068 genome.wustl.edu GRCh37 16 53860389 53860389 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000471389.1:c.737G>T p.Ser246Ile p.S246I ENST00000471389 NM_001080432.2 246 aGt/aTt 0 Missense_Mutation G 36 FTO SNP 16 G T 52417890 52417890 WashU ITGA5 3678 genome.wustl.edu GRCh37 12 54795449 54795449 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000293379.4:c.2307C>G p.Ser769Arg p.S769R ENST00000293379 NM_002205.2 769 agC/agG 0 Missense_Mutation G 46 ITGA5 SNP 12 G C 53081716 53081716 WashU CASS4 57091 genome.wustl.edu GRCh37 20 55026992 55026992 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371336.3:c.760A>T p.Ser254Cys p.S254C ENST00000371336 NM_001164114.1 254 Agc/Tgc 0 Missense_Mutation A 7 CASS4 SNP 20 A T 54460399 54460399 WashU OR5I1 10798 genome.wustl.edu GRCh37 11 55703700 55703700 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000301532.3:c.177C>T p.Thr59= p.T59= ENST00000301532 NM_006637.1 59 acC/acT 0 Silent G 43 OR5I1 SNP 11 G A 55460276 55460276 WashU OR10AG1 282770 genome.wustl.edu GRCh37 11 55735358 55735358 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000312345.2:c.582G>A p.Ala194= p.A194= ENST00000312345 NM_001005491.1 194 gcG/gcA 0 Silent C 23 OR10AG1 SNP 11 C T 55491934 55491934 WashU NAB2 4665 genome.wustl.edu GRCh37 12 57485519 57485519 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300131.3:c.695G>A p.Gly232Asp p.G232D ENST00000300131 NM_005967.3 232 gGt/gAt 0 Missense_Mutation G 44 NAB2 SNP 12 G A 55771786 55771786 WashU CLOCK 9575 genome.wustl.edu GRCh37 4 56310050 56310050 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000309964.4:c.1706A>T p.Gln569Leu p.Q569L ENST00000309964 NM_004898.3 569 cAa/cTa 0 Missense_Mutation T 63 CLOCK SNP 4 T A 56004807 56004807 WashU INTS2 57508 genome.wustl.edu GRCh37 17 59947159 59947159 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000444766.3:c.2993G>T p.Cys998Phe p.C998F ENST00000444766 NM_020748.2 998 tGt/tTt 0 Missense_Mutation C 17 INTS2 SNP 17 C A 57301941 57301941 WashU CDH8 1006 genome.wustl.edu GRCh37 16 62055265 62055265 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000577390.1:c.43C>A p.Pro15Thr p.P15T ENST00000577390 NM_001796.4 15 Cca/Aca 0 Missense_Mutation G 41 CDH8 SNP 16 G T 60612766 60612766 WashU YTHDF1 54915 genome.wustl.edu GRCh37 20 61834694 61834694 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370339.3:c.598G>A p.Val200Ile p.V200I ENST00000370339 NM_017798.3 200 Gtc/Atc 0 Missense_Mutation C 19 YTHDF1 SNP 20 C T 61305139 61305139 WashU ZSCAN5B 342933 genome.wustl.edu GRCh37 19 56704059 56704059 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000586855.2:c.363T>C p.Asn121= p.N121= ENST00000586855 121 aaT/aaC 0 Silent A 16 ZSCAN5B SNP 19 A G 61395871 61395871 WashU AHNAK 79026 genome.wustl.edu GRCh37 11 62285127 62285127 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378024.4:c.16762T>G p.Leu5588Val p.L5588V ENST00000378024 NM_001620.2 5588 Ttg/Gtg 0 Missense_Mutation A 1 AHNAK SNP 11 A C 62041703 62041703 WashU PTPRG 5793 genome.wustl.edu GRCh37 3 62248479 62248479 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000474889.1:c.2566C>A p.Gln856Lys p.Q856K ENST00000474889 NM_002841.3 856 Cag/Aag 0 Missense_Mutation C 21 PTPRG SNP 3 C A 62223519 62223519 WashU SF3B2 10992 genome.wustl.edu GRCh37 11 65829174 65829174 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322535.6:c.1797A>G p.Thr599= p.T599= ENST00000322535 NM_006842.2 599 acA/acG 0 Silent A 6 SF3B2 SNP 11 A G 65585750 65585750 WashU EPHA5 2044 genome.wustl.edu GRCh37 4 66242742 66242742 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273854.3:c.1830C>T p.Cys610= p.C610= ENST00000273854 NM_004439.5 610 tgC/tgT 0 Silent G 38 EPHA5 SNP 4 G A 65925337 65925337 WashU CSPP1 79848 genome.wustl.edu GRCh37 8 68007879 68007879 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262210.5:c.862G>T p.Asp288Tyr p.D288Y ENST00000262210 NM_024790.6 288 Gat/Tat 0 Missense_Mutation G 33 CSPP1 SNP 8 G T 68170433 68170433 WashU C8orf34 116328 genome.wustl.edu GRCh37 8 69351737 69351737 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000518698.1:c.331T>C p.Leu111= p.L111= ENST00000518698 NM_052958.2 111 Tta/Cta 0 Silent T 52 C8orf34 SNP 8 T C 69514291 69514291 WashU KIF19 124602 genome.wustl.edu GRCh37 17 72347060 72347060 + intron_variant Intron SNP G G C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000389916.4:c.1587+16G>C *529* ENST00000389916 NM_153209.3 0 Missense_Mutation G 43 KIF19 SNP 17 G C 69858655 69858655 WashU HTN3 3347 genome.wustl.edu GRCh37 4 70896494 70896494 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000530128.1:c.37A>T p.Met13Leu p.M13L ENST00000530128 13 Atg/Ttg 0 Missense_Mutation A 8 HTN3 SNP 4 A T 70931083 70931083 WashU CYP1A1 1543 genome.wustl.edu GRCh37 15 75012850 75012850 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379727.3:c.1519C>A p.Gln507Lys p.Q507K ENST00000379727 507 Caa/Aaa 0 Missense_Mutation G 47 CYP1A1 SNP 15 G T 72799903 72799903 WashU ALB 213 genome.wustl.edu GRCh37 4 74276114 74276114 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295897.4:c.701C>A p.Ala234Asp p.A234D ENST00000295897 NM_000477.5 234 gCt/gAt 0 Missense_Mutation C 28 ALB SNP 4 C A 74494978 74494978 WashU EIF4A3 9775 genome.wustl.edu GRCh37 17 78109893 78109893 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269349.3:c.1129G>C p.Ala377Pro p.A377P ENST00000269349 NM_014740.3 377 Gcc/Ccc 0 Missense_Mutation C 26 EIF4A3 SNP 17 C G 75724488 75724488 WashU SLAIN1 122060 genome.wustl.edu GRCh37 13 78318404 78318404 + intron_variant Intron SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000488699.1:c.275-14C>T *92* ENST00000488699 NM_001040153.3 0 Silent C 30 SLAIN1 SNP 13 C T 77216405 77216405 WashU ZSCAN2 54993 genome.wustl.edu GRCh37 15 85163858 85163858 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000448803.2:c.432G>C p.Gly144= p.G144= ENST00000448803 NM_181877.3 144 ggG/ggC 0 Silent G 43 ZSCAN2 SNP 15 G C 82964862 82964862 WashU SCD5 79966 genome.wustl.edu GRCh37 4 83626508 83626508 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319540.4:c.291G>A p.Trp97Ter p.W97* ENST00000319540 NM_001037582.2 97 tgG/tgA 0 Nonsense_Mutation C 30 SCD5 SNP 4 C T 83845532 83845532 WashU ZNF711 7552 genome.wustl.edu GRCh37 X 84526277 84526277 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373165.3:c.1729C>A p.Leu577Ile p.L577I ENST00000373165 NM_021998.4 577 Ctt/Att 0 Missense_Mutation C 28 ZNF711 SNP 23 C A 84412933 84412933 WashU IRF8 3394 genome.wustl.edu GRCh37 16 85945260 85945260 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000268638.5:c.443A>G p.Lys148Arg p.K148R ENST00000268638 NM_002163.2 148 aAg/aGg 0 Missense_Mutation A 3 IRF8 SNP 16 A G 84502761 84502761 WashU FLRT2 23768 genome.wustl.edu GRCh37 14 86089685 86089685 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330753.4:c.1827C>T p.Ile609= p.I609= ENST00000330753 NM_013231.4 609 atC/atT 0 Silent C 31 FLRT2 SNP 14 C T 85159438 85159438 WashU PTPN13 5783 genome.wustl.edu GRCh37 4 87730941 87730941 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000436978.1:c.7118T>C p.Ile2373Thr p.I2373T ENST00000436978 NM_080685.2 2373 aTt/aCt 0 Missense_Mutation T 52 PTPN13 SNP 4 T C 87949965 87949965 WashU CNNM4 26504 genome.wustl.edu GRCh37 2 97427452 97427452 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377075.2:c.716G>T p.Gly239Val p.G239V ENST00000377075 NM_020184.3 239 gGc/gTc 0 Missense_Mutation G 42 CNNM4 SNP 2 G T 96791179 96791179 WashU CNGA3 1261 genome.wustl.edu GRCh37 2 99013408 99013408 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000393504.1:c.1775C>A p.Pro592His p.P592H ENST00000393504 NM_001298.2 592 cCc/cAc 0 Missense_Mutation C 22 CNGA3 SNP 2 C A 98379840 98379840 WashU ZKSCAN1 7586 genome.wustl.edu GRCh37 7 99627968 99627968 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324306.6:c.769C>G p.Gln257Glu p.Q257E ENST00000324306 NM_003439.1 257 Cag/Gag 0 Missense_Mutation C 25 ZKSCAN1 SNP 7 C G 99465904 99465904 WashU SYTL4 94121 genome.wustl.edu GRCh37 X 99942147 99942147 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000455616.1:c.1101G>C p.Glu367Asp p.E367D ENST00000455616 367 gaG/gaC 0 Missense_Mutation C 28 SYTL4 SNP 23 C G 99828803 99828803 WashU ADH1A 124 genome.wustl.edu GRCh37 4 100208014 100208014 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000209668.2:c.252C>T p.Val84= p.V84= ENST00000209668 NM_000667.3 84 gtC/gtT 0 Silent G 45 ADH1A SNP 4 G A 100427037 100427037 WashU SERPINE1 5054 genome.wustl.edu GRCh37 7 100773786 100773786 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000223095.4:c.356C>T p.Ala119Val p.A119V ENST00000223095 NM_000602.4 119 gCg/gTg 0 Missense_Mutation C 27 SERPINE1 SNP 7 C T 100560506 100560506 WashU ARMC10 83787 genome.wustl.edu GRCh37 7 102738779 102738779 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000323716.3:c.811C>T p.His271Tyr p.H271Y ENST00000323716 NM_031905.4 271 Cac/Tac 0 Missense_Mutation C 21 ARMC10 SNP 7 C T 102526015 102526015 WashU HCFC2 29915 genome.wustl.edu GRCh37 12 104487252 104487252 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000229330.4:c.1373C>T p.Thr458Met p.T458M ENST00000229330 NM_013320.2 458 aCg/aTg 0 Missense_Mutation C 19 HCFC2 SNP 12 C T 103011382 103011382 WashU GBF1 8729 genome.wustl.edu GRCh37 10 104111614 104111614 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369983.3:c.429G>C p.Leu143= p.L143= ENST00000369983 NM_004193.2 143 ctG/ctC 0 Silent G 46 GBF1 SNP 10 G C 104101604 104101604 WashU IGHG2 3501 genome.wustl.edu GRCh37 14 106110421 106110421 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390545.2:c.315G>C p.Glu105Asp p.E105D ENST00000390545 105 gaG/gaC 0 Missense_Mutation C 20 IGHG2 SNP 14 C G 105181466 105181466 WashU COL4A6 1288 genome.wustl.edu GRCh37 X 107431887 107431887 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000372216.4:c.1450T>A p.Cys484Ser p.C484S ENST00000372216 NM_001847.2 484 Tgt/Agt 0 Missense_Mutation A 5 COL4A6 SNP 23 A T 107318543 107318543 WashU DLAT 1737 genome.wustl.edu GRCh37 11 111899569 111899569 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000280346.6:c.560C>G p.Pro187Arg p.P187R ENST00000280346 NM_001931.4 187 cCt/cGt 0 Missense_Mutation C 24 DLAT SNP 11 C G 111404779 111404779 WashU HTR2C 3358 genome.wustl.edu GRCh37 X 113965830 113965830 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000276198.1:c.163T>A p.Trp55Arg p.W55R ENST00000276198 NM_000868.2 55 Tgg/Agg 0 Missense_Mutation T 55 HTR2C SNP 23 T A 113872086 113872086 WashU PTPN4 5775 genome.wustl.edu GRCh37 2 120567546 120567546 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263708.2:c.117T>A p.Thr39= p.T39= ENST00000263708 NM_002830.3 39 acT/acA 0 Silent T 55 PTPN4 SNP 2 T A 120284016 120284016 WashU NOV 4856 genome.wustl.edu GRCh37 8 120435162 120435162 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000259526.3:c.864G>C p.Lys288Asn p.K288N ENST00000259526 NM_002514.3 288 aaG/aaC 0 Missense_Mutation G 34 NOV SNP 8 G C 120504343 120504343 WashU TACC2 10579 genome.wustl.edu GRCh37 10 123843238 123843238 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369005.1:c.1223C>T p.Ser408Phe p.S408F ENST00000369005 NM_206862.2 408 tCc/tTc 0 Missense_Mutation C 30 TACC2 SNP 10 C T 123833228 123833228 WashU DHX32 55760 genome.wustl.edu GRCh37 10 127526957 127526957 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000284690.3:c.1882-1G>C p.X628_splice ENST00000284690 NM_018180.2 0 Splice_Site_SNP C 32 DHX32 SNP 10 C G 127516947 127516947 WashU EXOC4 60412 genome.wustl.edu GRCh37 7 132937874 132937874 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253861.4:c.17C>A p.Ala6Asp p.A6D ENST00000253861 NM_021807.3 6 gCt/gAt 0 Missense_Mutation C 28 EXOC4 SNP 7 C A 132588414 132588414 WashU TG 7038 genome.wustl.edu GRCh37 8 133920479 133920479 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000220616.4:c.3896A>T p.Gln1299Leu p.Q1299L ENST00000220616 NM_003235.4 1299 cAg/cTg 0 Missense_Mutation A 7 TG SNP 8 A T 133989661 133989661 WashU MATR3 9782 genome.wustl.edu GRCh37 5 138643823 138643823 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394805.3:c.719C>G p.Ser240Trp p.S240W ENST00000394805 NM_001194955.1 240 tCg/tGg 0 Missense_Mutation C 31 MATR3 SNP 5 C G 138671722 138671722 WashU TRBV28 genome.wustl.edu GRCh37 7 142428757 142428757 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390400.2:c.117T>C p.Phe39= p.F39= ENST00000390400 39 ttT/ttC 0 Silent T 62 uc003wae.2 SNP 7 T C 142108338 142108338 WashU HTR4 3360 genome.wustl.edu GRCh37 5 147845468 147845468 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000314512.6:c.1097G>C p.Ser366Thr p.S366T ENST00000314512 NM_199453.3 366 aGc/aCc 0 Missense_Mutation C 28 HTR4 SNP 5 C G 147825661 147825661 WashU PIP5K1A 8394 genome.wustl.edu GRCh37 1 151205165 151205165 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368888.4:c.625C>G p.Pro209Ala p.P209A ENST00000368888 NM_001135638.1 209 Cca/Gca 0 Missense_Mutation C 30 PIP5K1A SNP 1 C G 149471789 149471789 WashU CGN 57530 genome.wustl.edu GRCh37 1 151509308 151509308 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271636.7:c.3409G>A p.Glu1137Lys p.E1137K ENST00000271636 NM_020770.2 1137 Gag/Aag 0 Missense_Mutation G 41 CGN SNP 1 G A 149775932 149775932 WashU PASD1 139135 genome.wustl.edu GRCh37 X 150842517 150842517 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370357.4:c.2034A>T p.Ser678= p.S678= ENST00000370357 NM_173493.2 678 tcA/tcT 0 Silent A 5 PASD1 SNP 23 A T 150593173 150593173 WashU FLG2 388698 genome.wustl.edu GRCh37 1 152327876 152327876 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000388718.5:c.2386C>A p.Gln796Lys p.Q796K ENST00000388718 NM_001014342.2 796 Caa/Aaa 0 Missense_Mutation G 48 FLG2 SNP 1 G T 150594500 150594500 WashU P2RY13 53829 genome.wustl.edu GRCh37 3 151046191 151046191 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000325602.5:c.653G>T p.Trp218Leu p.W218L ENST00000325602 NM_176894.2 218 tGg/tTg 0 Missense_Mutation C 21 P2RY13 SNP 3 C A 152528881 152528881 WashU P2RY13 53829 genome.wustl.edu GRCh37 3 151046196 151046196 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000325602.5:c.648T>G p.Ile216Met p.I216M ENST00000325602 NM_176894.2 216 atT/atG 0 Missense_Mutation A 1 P2RY13 SNP 3 A C 152528886 152528886 WashU MYCT1 80177 genome.wustl.edu GRCh37 6 153042883 153042883 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367245.5:c.203T>A p.Leu68His p.L68H ENST00000367245 NM_025107.2 68 cTt/cAt 0 Missense_Mutation T 56 MYCT1 SNP 6 T A 153084576 153084576 WashU ADAM19 8728 genome.wustl.edu GRCh37 5 156918668 156918668 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257527.4:c.2050C>T p.Pro684Ser p.P684S ENST00000257527 NM_033274.4 684 Ccg/Tcg 0 Missense_Mutation G 44 ADAM19 SNP 5 A A 156851246 156851246 WashU ITLN1 55600 genome.wustl.edu GRCh37 1 160850971 160850971 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326245.3:c.537G>T p.Leu179= p.L179= ENST00000326245 NM_017625.2 179 ctG/ctT 0 Silent C 21 ITLN1 SNP 1 C A 159117595 159117595 WashU LPA 4018 genome.wustl.edu GRCh37 6 160968890 160968890 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000447678.1:c.5235T>A p.Ala1745= p.A1745= ENST00000447678 NM_005577.2 1745 gcT/gcA 0 Silent A 7 LPA SNP 6 A T 160888880 160888880 WashU DDR2 4921 genome.wustl.edu GRCh37 1 162722919 162722919 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367921.3:c.117C>T p.Gly39= p.G39= ENST00000367921 NM_006182.2 39 ggC/ggT 0 Silent C 26 DDR2 SNP 1 C T 160989543 160989543 WashU TADA1 117143 genome.wustl.edu GRCh37 1 166831529 166831529 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367874.4:c.451C>G p.Leu151Val p.L151V ENST00000367874 NM_053053.3 151 Ctt/Gtt 0 Missense_Mutation G 34 TADA1 SNP 1 G C 165098153 165098153 WashU SLITRK3 22865 genome.wustl.edu GRCh37 3 164908337 164908337 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000475390.1:c.282C>A p.Thr94= p.T94= ENST00000475390 94 acC/acA 0 Silent G 47 SLITRK3 SNP 3 G T 166391031 166391031 WashU F5 2153 genome.wustl.edu GRCh37 1 169483640 169483640 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367797.3:c.6586A>T p.Ile2196Phe p.I2196F ENST00000367797 NM_000130.4 2196 Atc/Ttc 0 Missense_Mutation T 52 F5 SNP 1 T A 167750264 167750264 WashU LRP2 4036 genome.wustl.edu GRCh37 2 170032937 170032937 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263816.3:c.10555T>G p.Cys3519Gly p.C3519G ENST00000263816 NM_004525.2 3519 Tgc/Ggc 0 Missense_Mutation A 6 LRP2 SNP 2 A C 169741183 169741183 WashU LRP2 4036 genome.wustl.edu GRCh37 2 170072840 170072840 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000263816.3:c.5749A>T p.Asn1917Tyr p.N1917Y ENST00000263816 NM_004525.2 1917 Aac/Tac 0 Missense_Mutation T 62 LRP2 SNP 2 T A 169781086 169781086 WashU RUFY1 80230 genome.wustl.edu GRCh37 5 179020599 179020599 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319449.4:c.1366C>G p.Leu456Val p.L456V ENST00000319449 NM_025158.4 456 Ctg/Gtg 0 Missense_Mutation C 28 RUFY1 SNP 5 C G 178953205 178953205 WashU TTN 7273 genome.wustl.edu GRCh37 2 179464487 179464487 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.56141C>T p.Pro18714Leu p.P18714L ENST00000589042 NM_001267550.1 18714 cCg/cTg 0 Missense_Mutation G 39 TTN SNP 2 G A 179172732 179172732 WashU CAMSAP2 23271 genome.wustl.edu GRCh37 1 200801451 200801451 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000358823.2:c.769G>C p.Asp257His p.D257H ENST00000358823 NM_203459.1 257 Gat/Cat 0 Missense_Mutation G 45 CAMSAP1L1 SNP 1 G C 199068074 199068074 WashU CR1 1378 genome.wustl.edu GRCh37 1 207741239 207741239 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367049.4:c.4023C>A p.Pro1341= p.P1341= ENST00000367049 NM_000651.4 1341 ccC/ccA 0 Silent C 24 CR1 SNP 1 C A 205807862 205807862 WashU USH2A 7399 genome.wustl.edu GRCh37 1 215963506 215963506 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307340.3:c.10077T>A p.Cys3359Ter p.C3359* ENST00000307340 NM_206933.2 3359 tgT/tgA 0 Nonsense_Mutation A 6 USH2A SNP 1 A T 214030129 214030129 WashU SP100 6672 genome.wustl.edu GRCh37 2 231406646 231406646 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340126.4:c.2443T>C p.Leu815= p.L815= ENST00000340126 NM_001080391.1 815 Tta/Cta 0 Silent T 60 SP100 SNP 2 T C 231114890 231114890 WashU HMGCS2 3158 genome.wustl.edu GRCh37 1 120295937 120295937 + synonymous_variant Silent SNP G G A Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000369406.3:c.1260C>T p.Phe420= p.F420= ENST00000369406 NM_005518.3 420 ttC/ttT 0 Silent G 33 HMGCS2 SNP 1 G A 120097460 120097460 WashU L3HYPDH 112849 genome.wustl.edu GRCh37 14 59945959 59945959 + missense_variant Missense_Mutation SNP C C G Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C G C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000247194.4:c.619G>C p.Ala207Pro p.A207P ENST00000247194 NM_144581.1 207 Gca/Cca 0 Missense_Mutation C 25 C14orf149 SNP 14 C G 59015712 59015712 WashU NRXN3 9369 genome.wustl.edu GRCh37 14 78709496 78709496 + synonymous_variant,NMD_transcript_variant Silent SNP C C G novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000554738.1:c.60C>G p.Ser20= p.S20= ENST00000554738 20 tcC/tcG 0 Silent C 22 NRXN3 SNP 14 C G 77779249 77779249 WashU CCDC33 80125 genome.wustl.edu GRCh37 15 74627439 74627439 + intron_variant Intron SNP C C A Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C A C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000398814.3:c.2139+10C>A *713* ENST00000398814 NM_025055.4 0 Missense_Mutation C 22 CCDC33 SNP 15 C A 72414492 72414492 WashU NMS 129521 genome.wustl.edu GRCh37 2 101096958 101096958 + missense_variant,splice_region_variant Missense_Mutation SNP G G T Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000376865.1:c.337G>T p.Gly113Cys p.G113C ENST00000376865 NM_001011717.1 113 Ggc/Tgc 0 Missense_Mutation G 43 NMS SNP 2 G T 100463390 100463390 WashU FAM171B 165215 genome.wustl.edu GRCh37 2 187627365 187627365 + stop_gained Nonsense_Mutation SNP G G T Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000304698.5:c.2296G>T p.Gly766Ter p.G766* ENST00000304698 NM_177454.3 766 Gga/Tga 0 Nonsense_Mutation G 47 FAM171B SNP 2 G T 187335610 187335610 WashU EML4 27436 genome.wustl.edu GRCh37 2 42556028 42556028 + missense_variant,splice_region_variant Missense_Mutation SNP G G C Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000318522.5:c.2344G>C p.Val782Leu p.V782L ENST00000318522 NM_019063.3 782 Gtc/Ctc 0 Missense_Mutation G 48 EML4 SNP 2 G C 42409532 42409532 WashU RIPK4 54101 genome.wustl.edu GRCh37 21 43161481 43161481 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332512.3:c.1872C>G p.Ile624Met p.I624M ENST00000332512 NM_020639.2 624 atC/atG 0 Missense_Mutation G 37 RIPK4 SNP 21 G C 42034550 42034550 WashU RPS3A 6189 genome.wustl.edu GRCh37 4 152024193 152024193 + synonymous_variant Silent SNP G G A Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000274065.4:c.525G>A p.Glu175= p.E175= ENST00000274065 NM_001006.4 175 gaG/gaA 0 Silent G 35 RPS3A SNP 4 G A 152243643 152243643 WashU KLKB1 3818 genome.wustl.edu GRCh37 4 187177216 187177216 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264690.6:c.1560C>A p.Thr520= p.T520= ENST00000264690 NM_000892.3 520 acC/acA 0 Silent C 23 KLKB1 SNP 4 C A 187414210 187414210 WashU SLC44A4 80736 genome.wustl.edu GRCh37 6 31838621 31838621 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000229729.6:c.905A>G p.Tyr302Cys p.Y302C ENST00000229729 NM_025257.2 302 tAc/tGc 0 Missense_Mutation T 57 SLC44A4 SNP 6 T C 31946600 31946600 WashU ABCA13 154664 genome.wustl.edu GRCh37 7 48313812 48313812 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000435803.1:c.4549T>A p.Ser1517Thr p.S1517T ENST00000435803 NM_152701.3 1517 Tcc/Acc 0 Missense_Mutation T 58 ABCA13 SNP 7 T A 48284358 48284358 WashU TEX15 56154 genome.wustl.edu GRCh37 8 30702387 30702387 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000256246.2:c.4147C>T p.Leu1383Phe p.L1383F ENST00000256246 NM_031271.3 1383 Ctt/Ttt 0 Missense_Mutation G 34 TEX15 SNP 8 G A 30821929 30821929 WashU UBAP2 55833 genome.wustl.edu GRCh37 9 33953309 33953309 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379238.1:c.1030G>A p.Val344Ile p.V344I ENST00000379238 344 Gtc/Atc 0 Missense_Mutation C 19 UBAP2 SNP 9 C T 33943309 33943309 WashU SPTAN1 6709 genome.wustl.edu GRCh37 9 131349970 131349970 + frameshift_variant Frame_Shift_Del DEL C C - Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C - C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000372739.3:c.2865del p.Cys956AlafsTer33 p.C956Afs*33 ENST00000372739 NM_001130438.2 955 tCc/tc 0 Frame_Shift_Del C 30 SPTAN1 DEL 9 C - 130389791 130389791 WashU UBR4 23352 genome.wustl.edu GRCh37 1 19443876 19443876 + synonymous_variant Silent SNP C C T Unknown TCGA-13-0920-01 TCGA-13-0920-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000375254.3:c.10662G>A p.Thr3554= p.T3554= ENST00000375254 NM_020765.2 3554 acG/acA 0 Silent C 27 UBR4 SNP 1 C T 19316463 19316463 WashU MUC16 94025 genome.wustl.edu GRCh37 19 8976817 8976817 + synonymous_variant Silent SNP G G A Unknown TCGA-13-0920-01 TCGA-13-0920-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000397910.4:c.42249C>T p.Ile14083= p.I14083= ENST00000397910 NM_024690.2 14083 atC/atT 0 Silent G 33 MUC16 SNP 19 G A 8837817 8837817 WashU LUZP4 51213 genome.wustl.edu GRCh37 X 114537922 114537922 + missense_variant Missense_Mutation SNP A A T Unknown TCGA-13-0920-01 TCGA-13-0920-10 A A A T A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000371920.3:c.281A>T p.Gln94Leu p.Q94L ENST00000371920 NM_016383.3 94 cAa/cTa 0 Missense_Mutation A 5 LUZP4 SNP 23 A T 114444178 114444178 WashU SYNC 81493 broad.mit.edu GRCh37 1 33160554 33160554 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000409190.3:c.1145C>T p.Ala382Val p.A382V ENST00000409190 NM_030786.2 382 gCc/gTc 0 Missense_Mutation G 42 SYNC SNP 1 G A 32933141 32933141 Broad FOXJ3 22887 broad.mit.edu GRCh37 1 42671457 42671457 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000372572.1:c.606G>A p.Leu202= p.L202= ENST00000372572 NM_001198851.1 202 ctG/ctA 0 Silent C 21 FOXJ3 SNP 1 C T 42444044 42444044 Broad ZMYND12 84217 broad.mit.edu GRCh37 1 42915696 42915696 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000372565.3:c.145A>C p.Ile49Leu p.I49L ENST00000372565 NM_032257.4 49 Atc/Ctc 0 Missense_Mutation T 51 ZMYND12 SNP 1 T G 42688283 42688283 Broad C1orf50 79078 broad.mit.edu GRCh37 1 43240417 43240417 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000372525.5:c.292G>T p.Asp98Tyr p.D98Y ENST00000372525 NM_024097.3 98 Gat/Tat 0 Missense_Mutation G 33 C1orf50 SNP 1 G T 43013004 43013004 Broad IPP 3652 broad.mit.edu GRCh37 1 46180037 46180037 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000396478.3:c.1411A>G p.Met471Val p.M471V ENST00000396478 NM_005897.2 471 Atg/Gtg 0 Missense_Mutation T 52 IPP SNP 1 T C 45952625 45952625 Broad MAST2 23139 broad.mit.edu GRCh37 1 46290198 46290198 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000361297.2:c.271C>G p.Leu91Val p.L91V ENST00000361297 NM_015112.2 91 Ctg/Gtg 0 Missense_Mutation C 20 MAST2 SNP 1 C G 46062785 46062785 Broad JAK1 3716 broad.mit.edu GRCh37 1 65323363 65323363 + synonymous_variant Silent SNP G G A rs55788790 Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000342505.4:c.1434C>T p.Thr478= p.T478= ENST00000342505 NM_002227.2 478 acC/acT 0 Silent G 39 JAK1 SNP 1 G A 65095951 65095951 Broad PTGFR 5737 broad.mit.edu GRCh37 1 78959186 78959186 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000370757.3:c.758C>T p.Ala253Val p.A253V ENST00000370757 NM_000959.3 253 gCg/gTg 0 Missense_Mutation C 27 PTGFR SNP 1 C T 78731774 78731774 Broad SYPL2 284612 broad.mit.edu GRCh37 1 110019431 110019431 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000369872.3:c.288C>T p.Cys96= p.C96= ENST00000369872 NM_001040709.1 96 tgC/tgT 0 Silent C 27 SYPL2 SNP 1 C T 109820954 109820954 Broad PLEKHA6 22874 broad.mit.edu GRCh37 1 204236637 204236637 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000272203.3:c.246C>G p.Phe82Leu p.F82L ENST00000272203 NM_014935.4 82 ttC/ttG 0 Missense_Mutation G 37 PLEKHA6 SNP 1 G C 202503260 202503260 Broad PROX1 5629 broad.mit.edu GRCh37 1 214171443 214171443 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000366958.4:c.1565C>G p.Thr522Arg p.T522R ENST00000366958 NM_001270616.1 522 aCg/aGg 0 Missense_Mutation C 19 PROX1 SNP 1 C G 212238066 212238066 Broad USH2A 7399 broad.mit.edu GRCh37 1 215932065 215932065 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000307340.3:c.11261G>C p.Gly3754Ala p.G3754A ENST00000307340 NM_206933.2 3754 gGa/gCa 0 Missense_Mutation C 30 USH2A SNP 1 C G 213998688 213998688 Broad ZBTB18 10472 broad.mit.edu GRCh37 1 244218271 244218271 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000358704.4:c.1195A>T p.Ser399Cys p.S399C ENST00000358704 NM_205768.2 399 Agc/Tgc 0 Missense_Mutation A 11 ZNF238 SNP 1 A T 242284894 242284894 Broad LRRC18 474354 broad.mit.edu GRCh37 10 50121865 50121865 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000374160.3:c.336G>A p.Gly112= p.G112= ENST00000374160 NM_001006939.3 112 ggG/ggA 0 Silent C 26 LRRC18 SNP 10 C T 49791871 49791871 Broad ANK3 288 broad.mit.edu GRCh37 10 61829385 61829385 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000280772.2:c.11254T>A p.Cys3752Ser p.C3752S ENST00000280772 NM_020987.3 3752 Tgt/Agt 0 Missense_Mutation A 5 ANK3 SNP 10 A T 61499391 61499391 Broad PLA2G12B 84647 broad.mit.edu GRCh37 10 74701081 74701081 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000373032.3:c.312C>T p.Gly104= p.G104= ENST00000373032 NM_032562.2 104 ggC/ggT 0 Silent G 46 PLA2G12B SNP 10 G A 74371087 74371087 Broad TSPAN14 81619 broad.mit.edu GRCh37 10 82269140 82269140 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000429989.3:c.363C>T p.Asp121= p.D121= ENST00000429989 NM_030927.2 121 gaC/gaT 0 Silent C 18 TSPAN14 SNP 10 C T 82259120 82259120 Broad NOC3L 64318 broad.mit.edu GRCh37 10 96099617 96099617 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000371361.3:c.1841G>A p.Arg614His p.R614H ENST00000371361 NM_022451.9 614 cGc/cAc 0 Missense_Mutation C 27 NOC3L SNP 10 C T 96089607 96089607 Broad PDLIM1 9124 broad.mit.edu GRCh37 10 97023642 97023642 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000329399.6:c.512G>T p.Gly171Val p.G171V ENST00000329399 NM_020992.3 171 gGg/gTg 0 Missense_Mutation C 22 PDLIM1 SNP 10 C A 97013632 97013632 Broad LCOR 84458 broad.mit.edu GRCh37 10 98714825 98714825 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000371097.4:c.448A>T p.Lys150Ter p.K150* ENST00000371097 150 Aaa/Taa 0 Nonsense_Mutation A 5 LCOR SNP 10 A T 98704815 98704815 Broad ABCC8 6833 broad.mit.edu GRCh37 11 17418522 17418522 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000389817.3:c.4060G>T p.Asp1354Tyr p.D1354Y ENST00000389817 1354 Gac/Tac 0 Missense_Mutation C 31 ABCC8 SNP 11 C A 17375098 17375098 Broad DLG2 1740 broad.mit.edu GRCh37 11 83770481 83770481 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000376104.2:c.796G>T p.Val266Phe p.V266F ENST00000376104 NM_001142699.1 266 Gtt/Ttt 0 Missense_Mutation C 18 DLG2 SNP 11 C A 83448129 83448129 Broad C11orf65 160140 broad.mit.edu GRCh37 11 108277875 108277875 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000393084.1:c.176C>G p.Ala59Gly p.A59G ENST00000393084 NM_152587.3 59 gCa/gGa 0 Missense_Mutation G 46 C11orf65 SNP 11 G C 107783085 107783085 Broad NXPE4 54827 broad.mit.edu GRCh37 11 114451019 114451019 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000375478.3:c.934A>T p.Thr312Ser p.T312S ENST00000375478 NM_001077639.1 312 Aca/Tca 0 Missense_Mutation T 58 FAM55D SNP 11 T A 113956229 113956229 Broad DSCAML1 57453 broad.mit.edu GRCh37 11 117329487 117329487 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000321322.6:c.3731T>C p.Ile1244Thr p.I1244T ENST00000321322 NM_020693.2 1244 aTc/aCc 0 Missense_Mutation A 12 DSCAML1 SNP 11 A G 116834697 116834697 Broad LRMP 4033 broad.mit.edu GRCh37 12 25256980 25256980 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000354454.3:c.1034G>A p.Arg345Lys p.R345K ENST00000354454 NM_006152.3 345 aGg/aAg 0 Missense_Mutation G 35 LRMP SNP 12 G A 25148247 25148247 Broad RPAP3 79657 broad.mit.edu GRCh37 12 48091436 48091436 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000005386.3:c.361T>G p.Ser121Ala p.S121A ENST00000005386 NM_024604.2 121 Tcg/Gcg 0 Missense_Mutation A 10 RPAP3 SNP 12 A C 46377703 46377703 Broad TFCP2 7024 broad.mit.edu GRCh37 12 51512474 51512474 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000257915.5:c.204A>T p.Gln68His p.Q68H ENST00000257915 NM_005653.4 68 caA/caT 0 Missense_Mutation T 52 TFCP2 SNP 12 T A 49798741 49798741 Broad OR10A7 121364 broad.mit.edu GRCh37 12 55615509 55615509 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000326258.1:c.701G>T p.Arg234Leu p.R234L ENST00000326258 NM_001005280.1 234 cGc/cTc 0 Missense_Mutation G 38 OR10A7 SNP 12 G T 53901776 53901776 Broad RASAL1 8437 broad.mit.edu GRCh37 12 113565957 113565957 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000546530.1:c.149G>T p.Gly50Val p.G50V ENST00000546530 NM_004658.2 50 gGc/gTc 0 Missense_Mutation C 26 RASAL1 SNP 12 C A 112050340 112050340 Broad IQCD 115811 broad.mit.edu GRCh37 12 113645574 113645574 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000299732.2:c.398C>G p.Ser133Cys p.S133C ENST00000299732 NM_138451.1 133 tCc/tGc 0 Missense_Mutation G 41 IQCD SNP 12 G C 112129957 112129957 Broad FBXW8 26259 broad.mit.edu GRCh37 12 117461994 117461994 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000309909.5:c.1410G>T p.Ser470= p.S470= ENST00000309909 470 tcG/tcT 0 Silent G 38 FBXW8 SNP 12 G T 115946377 115946377 Broad TEP1 7011 broad.mit.edu GRCh37 14 20846616 20846616 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000262715.5:c.5431G>C p.Glu1811Gln p.E1811Q ENST00000262715 NM_007110.4 1811 Gag/Cag 0 Missense_Mutation C 32 TEP1 SNP 14 C G 19916456 19916456 Broad ACIN1 22985 broad.mit.edu GRCh37 14 23547402 23547402 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000262710.1:c.2255A>C p.Gln752Pro p.Q752P ENST00000262710 NM_001164814.1 752 cAg/cCg 0 Missense_Mutation T 55 ACIN1 SNP 14 T G 22617242 22617242 Broad GZMH 2999 broad.mit.edu GRCh37 14 25076888 25076888 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000216338.4:c.269C>A p.Pro90His p.P90H ENST00000216338 NM_033423.4 90 cCt/cAt 0 Missense_Mutation G 35 GZMH SNP 14 G T 24146728 24146728 Broad EXOC5 10640 broad.mit.edu GRCh37 14 57710915 57710915 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000413566.2:c.433T>C p.Leu145= p.L145= ENST00000413566 NM_006544.3 145 Ttg/Ctg 0 Silent A 4 EXOC5 SNP 14 A G 56780668 56780668 Broad DIS3L 115752 broad.mit.edu GRCh37 15 66625341 66625341 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000319212.4:c.2857-1G>C p.X953_splice ENST00000319212 NM_001143688.1 0 Splice_Site_SNP G 35 DIS3L SNP 15 G C 64412395 64412395 Broad ADAMTS17 170691 broad.mit.edu GRCh37 15 100802570 100802570 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000268070.4:c.860T>G p.Leu287Arg p.L287R ENST00000268070 NM_139057.2 287 cTa/cGa 0 Missense_Mutation A 15 ADAMTS17 SNP 15 A C 98620093 98620093 Broad FAHD1 81889 broad.mit.edu GRCh37 16 1877673 1877673 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000382666.4:c.443T>G p.Leu148Arg p.L148R ENST00000382666 NM_001018104.2 148 cTc/cGc 0 Missense_Mutation T 54 FAHD1 SNP 16 T G 1817674 1817674 Broad SH2B1 25970 broad.mit.edu GRCh37 16 28880331 28880331 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000322610.8:c.1046A>C p.Glu349Ala p.E349A ENST00000322610 349 gAa/gCa 0 Missense_Mutation A 9 SH2B1 SNP 16 A C 28787832 28787832 Broad NFATC2IP 84901 broad.mit.edu GRCh37 16 28967617 28967617 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000320805.4:c.805A>G p.Ile269Val p.I269V ENST00000320805 NM_032815.3 269 Atc/Gtc 0 Missense_Mutation A 4 NFATC2IP SNP 16 A G 28875118 28875118 Broad TP53 7157 broad.mit.edu GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 Missense_Mutation G 38 TP53 SNP 17 G A 7517846 7517846 Broad CDK12 51755 broad.mit.edu GRCh37 17 37665993 37665993 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000447079.4:c.2645G>T p.Arg882Leu p.R882L ENST00000447079 NM_015083.1 882 cGg/cTg 0 Missense_Mutation G 39 CDK12 SNP 17 G T 34919519 34919519 Broad EZH1 2145 broad.mit.edu GRCh37 17 40870052 40870052 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000428826.2:c.965A>G p.Lys322Arg p.K322R ENST00000428826 322 aAg/aGg 0 Missense_Mutation T 56 EZH1 SNP 17 T C 38123578 38123578 Broad HEXIM1 10614 broad.mit.edu GRCh37 17 43226606 43226606 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000332499.2:c.49A>T p.Asn17Tyr p.N17Y ENST00000332499 NM_006460.2 17 Aac/Tac 0 Missense_Mutation A 5 HEXIM1 SNP 17 A T 40582389 40582389 Broad STRADA 92335 broad.mit.edu GRCh37 17 61784669 61784669 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000336174.6:c.691C>G p.His231Asp p.H231D ENST00000336174 NM_001003787.2 231 Cac/Gac 0 Missense_Mutation G 47 STRADA SNP 17 G C 59138401 59138401 Broad OSBPL1A 114876 broad.mit.edu GRCh37 18 21746586 21746586 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000319481.3:c.2616C>T p.Cys872= p.C872= ENST00000319481 NM_080597.3 872 tgC/tgT 0 Silent G 46 OSBPL1A SNP 18 G A 20000584 20000584 Broad GALNT1 2589 broad.mit.edu GRCh37 18 33243591 33243591 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000269195.5:c.140-1G>C p.X47_splice ENST00000269195 NM_020474.3 0 Splice_Site_SNP G 36 GALNT1 SNP 18 G C 31497589 31497589 Broad CELF4 56853 broad.mit.edu GRCh37 18 34853005 34853005 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000420428.2:c.923C>T p.Ala308Val p.A308V ENST00000420428 NM_020180.3 308 gCg/gTg 0 Missense_Mutation G 38 CELF4 SNP 18 G A 33107003 33107003 Broad KIAA1683 80726 broad.mit.edu GRCh37 19 18376230 18376230 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000392413.4:c.2120C>T p.Ala707Val p.A707V ENST00000392413 NM_001145304.1 707 gCc/gTc 0 Missense_Mutation G 42 KIAA1683 SNP 19 G A 18237230 18237230 Broad ZNF208 7757 broad.mit.edu GRCh37 19 22155997 22155997 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000397126.4:c.1839A>C p.Glu613Asp p.E613D ENST00000397126 NM_007153.3 613 gaA/gaC 0 Missense_Mutation T 52 ZNF208 SNP 19 T G 21947837 21947837 Broad DPY19L3 147991 broad.mit.edu GRCh37 19 32959703 32959703 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000342179.5:c.1681C>G p.Leu561Val p.L561V ENST00000342179 NM_207325.2 561 Ctg/Gtg 0 Missense_Mutation C 28 DPY19L3 SNP 19 C G 37651543 37651543 Broad ZNF671 79891 broad.mit.edu GRCh37 19 58232979 58232979 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000317398.6:c.475G>T p.Ala159Ser p.A159S ENST00000317398 NM_024833.2 159 Gca/Tca 0 Missense_Mutation C 26 ZNF671 SNP 19 C A 62924791 62924791 Broad OTOF 9381 broad.mit.edu GRCh37 2 26705427 26705427 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000272371.2:c.1426C>T p.Pro476Ser p.P476S ENST00000272371 NM_194248.2 476 Ccc/Tcc 0 Missense_Mutation G 42 OTOF SNP 2 G A 26558931 26558931 Broad EMILIN1 11117 broad.mit.edu GRCh37 2 27305239 27305239 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000380320.4:c.800G>A p.Gly267Asp p.G267D ENST00000380320 NM_007046.3 267 gGc/gAc 0 Missense_Mutation G 42 EMILIN1 SNP 2 G A 27158743 27158743 Broad ERLEC1 27248 broad.mit.edu GRCh37 2 54035462 54035462 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000185150.4:c.906G>A p.Glu302= p.E302= ENST00000185150 NM_015701.4 302 gaG/gaA 0 Silent G 33 ERLEC1 SNP 2 G A 53888966 53888966 Broad ADD2 119 broad.mit.edu GRCh37 2 70905961 70905961 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000264436.4:c.1258C>T p.Arg420Ter p.R420* ENST00000264436 NM_001617.3 420 Cga/Tga 0 Nonsense_Mutation G 38 ADD2 SNP 2 G A 70759469 70759469 Broad IL36A 27179 broad.mit.edu GRCh37 2 113764288 113764288 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000259211.6:c.238G>A p.Gly80Arg p.G80R ENST00000259211 NM_014440.1 80 Ggg/Agg 0 Missense_Mutation G 39 IL1F6 SNP 2 G A 113480759 113480759 Broad TANC1 85461 broad.mit.edu GRCh37 2 160086628 160086628 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000263635.6:c.4691G>C p.Ser1564Thr p.S1564T ENST00000263635 NM_033394.2 1564 aGt/aCt 0 Missense_Mutation G 36 TANC1 SNP 2 G C 159794874 159794874 Broad LRP2 4036 broad.mit.edu GRCh37 2 170070332 170070332 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000263816.3:c.5875C>A p.Gln1959Lys p.Q1959K ENST00000263816 NM_004525.2 1959 Cag/Aag 0 Missense_Mutation G 47 LRP2 SNP 2 G T 169778578 169778578 Broad TTN 7273 broad.mit.edu GRCh37 2 179476535 179476535 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.50501T>G p.Val16834Gly p.V16834G ENST00000589042 NM_001267550.1 16834 gTt/gGt 0 Missense_Mutation A 2 TTN SNP 2 A C 179184780 179184780 Broad CCDC141 285025 broad.mit.edu GRCh37 2 179701598 179701598 + intron_variant Intron SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000420890.2:c.4325+23C>T *1442* ENST00000420890 NM_173648.3 0 Missense_Mutation G 42 CCDC141 SNP 2 G A 179409843 179409843 Broad ITGAV 3685 broad.mit.edu GRCh37 2 187516813 187516813 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000261023.3:c.1502C>A p.Ser501Tyr p.S501Y ENST00000261023 NM_002210.4 501 tCc/tAc 0 Missense_Mutation C 30 ITGAV SNP 2 C A 187225058 187225058 Broad UNC80 285175 broad.mit.edu GRCh37 2 210654289 210654289 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000439458.1:c.758G>A p.Arg253Gln p.R253Q ENST00000439458 NM_032504.1 253 cGg/cAg 0 Missense_Mutation G 39 UNC80 SNP 2 G A 210362534 210362534 Broad PRKAG3 53632 broad.mit.edu GRCh37 2 219691981 219691981 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000529249.1:c.991C>G p.Leu331Val p.L331V ENST00000529249 331 Ctg/Gtg 0 Missense_Mutation G 35 PRKAG3 SNP 2 G C 219400225 219400225 Broad TRIB3 57761 broad.mit.edu GRCh37 20 368679 368679 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000217233.3:c.25C>G p.Pro9Ala p.P9A ENST00000217233 NM_021158.3 9 Cct/Gct 0 Missense_Mutation C 30 TRIB3 SNP 20 C G 316679 316679 Broad SRC 6714 broad.mit.edu GRCh37 20 36030925 36030925 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000358208.4:c.1204G>T p.Val402Leu p.V402L ENST00000358208 402 Gtg/Ttg 0 Missense_Mutation G 44 SRC SNP 20 G T 35464339 35464339 Broad CTNNBL1 56259 broad.mit.edu GRCh37 20 36488708 36488708 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000361383.6:c.1565G>A p.Arg522Gln p.R522Q ENST00000361383 NM_030877.4 522 cGa/cAa 0 Missense_Mutation G 37 CTNNBL1 SNP 20 G A 35922122 35922122 Broad PABPC1L 80336 broad.mit.edu GRCh37 20 43550371 43550371 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000255136.3:c.875A>C p.Gln292Pro p.Q292P ENST00000255136 NM_001124756.1 292 cAg/cCg 0 Missense_Mutation A 7 PABPC1L SNP 20 A C 42983785 42983785 Broad CECR1 51816 broad.mit.edu GRCh37 22 17684504 17684504 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000399839.1:c.702G>T p.Glu234Asp p.E234D ENST00000399839 NM_001282228.1 234 gaG/gaT 0 Missense_Mutation C 20 CECR1 SNP 22 C A 16064504 16064504 Broad LIMK2 3985 broad.mit.edu GRCh37 22 31658653 31658653 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000340552.4:c.667C>T p.Leu223= p.L223= ENST00000340552 NM_001031801.1 223 Ctg/Ttg 0 Silent C 24 LIMK2 SNP 22 C T 29988653 29988653 Broad ENTHD1 150350 broad.mit.edu GRCh37 22 40283742 40283742 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000325157.6:c.11G>A p.Arg4Lys p.R4K ENST00000325157 NM_152512.3 4 aGg/aAg 0 Missense_Mutation C 24 ENTHD1 SNP 22 C T 38613688 38613688 Broad SETD5 55209 broad.mit.edu GRCh37 3 9517427 9517427 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000402198.1:c.3981T>C p.Ser1327= p.S1327= ENST00000402198 NM_001080517.1 1327 tcT/tcC 0 Silent T 55 SETD5 SNP 3 T C 9492427 9492427 Broad NEK10 152110 broad.mit.edu GRCh37 3 27387690 27387690 + missense_variant Missense_Mutation SNP G G C rs56125830 Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000341435.5:c.150C>G p.Phe50Leu p.F50L ENST00000341435 NM_199347.2 50 ttC/ttG 0 Missense_Mutation G 37 NEK10 SNP 3 G C 27362694 27362694 Broad CSRNP1 64651 broad.mit.edu GRCh37 3 39188082 39188082 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000273153.5:c.92G>C p.Arg31Pro p.R31P ENST00000273153 NM_033027.3 31 cGc/cCc 0 Missense_Mutation C 27 CSRNP1 SNP 3 C G 39163086 39163086 Broad ATP6V1A 523 broad.mit.edu GRCh37 3 113517281 113517281 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000273398.3:c.1482G>A p.Gln494= p.Q494= ENST00000273398 NM_001690.3 494 caG/caA 0 Silent G 34 ATP6V1A SNP 3 G A 114999971 114999971 Broad DNAJB11 51726 broad.mit.edu GRCh37 3 186295492 186295492 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000439351.1:c.359C>A p.Thr120Asn p.T120N ENST00000439351 120 aCc/aAc 0 Missense_Mutation C 18 DNAJB11 SNP 3 C A 187778186 187778186 Broad BLOC1S4 55330 broad.mit.edu GRCh37 4 6718293 6718293 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000320776.3:c.357G>C p.Pro119= p.P119= ENST00000320776 NM_018366.2 119 ccG/ccC 0 Silent G 38 CNO SNP 4 G C 6769194 6769194 Broad KLF3 51274 broad.mit.edu GRCh37 4 38691419 38691419 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000261438.5:c.614C>T p.Pro205Leu p.P205L ENST00000261438 NM_016531.5 205 cCa/cTa 0 Missense_Mutation C 21 KLF3 SNP 4 C T 38367814 38367814 Broad LIMCH1 22998 broad.mit.edu GRCh37 4 41694371 41694371 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000313860.7:c.3196A>C p.Asn1066His p.N1066H ENST00000313860 NM_014988.2 1066 Aac/Cac 0 Missense_Mutation A 9 LIMCH1 SNP 4 A C 41389128 41389128 Broad CXCL9 4283 broad.mit.edu GRCh37 4 76924817 76924817 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000264888.5:c.312A>T p.Lys104Asn p.K104N ENST00000264888 NM_002416.1 104 aaA/aaT 0 Missense_Mutation T 60 CXCL9 SNP 4 T A 77143841 77143841 Broad LARP7 51574 broad.mit.edu GRCh37 4 113570806 113570806 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000509061.1:c.1279G>A p.Gly427Arg p.G427R ENST00000509061 NM_001267039.1 427 Gga/Aga 0 Missense_Mutation G 47 LARP7 SNP 4 G A 113790255 113790255 Broad FSTL5 56884 broad.mit.edu GRCh37 4 162508708 162508708 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000306100.5:c.914C>A p.Ser305Tyr p.S305Y ENST00000306100 NM_001128427.2 305 tCc/tAc 0 Missense_Mutation G 41 FSTL5 SNP 4 G T 162728158 162728158 Broad SPCS3 60559 broad.mit.edu GRCh37 4 177243374 177243374 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000503362.1:c.197T>C p.Ile66Thr p.I66T ENST00000503362 NM_021928.3 66 aTc/aCc 0 Missense_Mutation T 50 SPCS3 SNP 4 T C 177480368 177480368 Broad TRIO 7204 broad.mit.edu GRCh37 5 14419940 14419940 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000344204.4:c.5013C>G p.Asn1671Lys p.N1671K ENST00000344204 NM_007118.2 1671 aaC/aaG 0 Missense_Mutation C 17 TRIO SNP 5 C G 14472940 14472940 Broad FAM105B 90268 broad.mit.edu GRCh37 5 14690252 14690252 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000284274.4:c.699A>T p.Lys233Asn p.K233N ENST00000284274 NM_138348.4 233 aaA/aaT 0 Missense_Mutation A 4 FAM105B SNP 5 A T 14743252 14743252 Broad CMYA5 202333 broad.mit.edu GRCh37 5 79029373 79029373 + synonymous_variant Silent SNP A A T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000446378.2:c.4785A>T p.Ala1595= p.A1595= ENST00000446378 NM_153610.3 1595 gcA/gcT 0 Silent A 7 CMYA5 SNP 5 A T 79065129 79065129 Broad GPRIN1 114787 broad.mit.edu GRCh37 5 176026590 176026590 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000303991.4:c.246C>A p.Ser82= p.S82= ENST00000303991 NM_052899.2 82 tcC/tcA 0 Silent G 35 GPRIN1 SNP 5 G T 175959196 175959196 Broad FGFR4 2264 broad.mit.edu GRCh37 5 176523292 176523292 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000292408.4:c.1949G>A p.Arg650His p.R650H ENST00000292408 NM_213647.1 650 cGc/cAc 0 Missense_Mutation G 38 FGFR4 SNP 5 G A 176455898 176455898 Broad HIST1H2AM 8336 broad.mit.edu GRCh37 6 27860907 27860907 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000359611.2:c.21G>C p.Gln7His p.Q7H ENST00000359611 NM_003514.2 7 caG/caC 0 Missense_Mutation C 24 HIST1H2AM SNP 6 C G 27968886 27968886 Broad MDN1 23195 broad.mit.edu GRCh37 6 90383053 90383053 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000369393.3:c.13376T>C p.Leu4459Pro p.L4459P ENST00000369393 4459 cTa/cCa 0 Missense_Mutation A 15 MDN1 SNP 6 A G 90439774 90439774 Broad KLHL32 114792 broad.mit.edu GRCh37 6 97562044 97562044 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000369261.4:c.1013A>G p.His338Arg p.H338R ENST00000369261 NM_052904.3 338 cAc/cGc 0 Missense_Mutation A 6 KLHL32 SNP 6 A G 97668765 97668765 Broad RFX6 222546 broad.mit.edu GRCh37 6 117198482 117198482 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000332958.2:c.44A>T p.Gln15Leu p.Q15L ENST00000332958 NM_173560.3 15 cAg/cTg 0 Missense_Mutation A 7 RFX6 SNP 6 A T 117305175 117305175 Broad LFNG 3955 broad.mit.edu GRCh37 7 2566516 2566517 + missense_variant Missense_Mutation DNP AC AC CA novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000222725.5:c.1034_1035delinsCA p.His345Pro p.H345P ENST00000222725 NM_001040167.1 345 cAC/cCA 0 Missense_Mutation AC 6 LFNG DNP 7 AC CA 2533043 2533042 Broad FBXL18 80028 broad.mit.edu GRCh37 7 5540156 5540156 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000382368.3:c.1744G>C p.Asp582His p.D582H ENST00000382368 NM_024963.4 582 Gac/Cac 0 Missense_Mutation C 32 FBXL18 SNP 7 C G 5506682 5506682 Broad RELN 5649 broad.mit.edu GRCh37 7 103234215 103234215 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000428762.1:c.3826G>A p.Ala1276Thr p.A1276T ENST00000428762 NM_005045.3 1276 Gca/Aca 0 Missense_Mutation C 28 RELN SNP 7 C T 103021451 103021451 Broad AASS 10157 broad.mit.edu GRCh37 7 121756700 121756700 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000393376.1:c.881G>C p.Arg294Pro p.R294P ENST00000393376 294 cGt/cCt 0 Missense_Mutation C 19 AASS SNP 7 C G 121543936 121543936 Broad CPA1 1357 broad.mit.edu GRCh37 7 130023569 130023569 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000011292.3:c.630C>T p.Leu210= p.L210= ENST00000011292 NM_001868.2 210 ctC/ctT 0 Silent C 31 CPA1 SNP 7 C T 129810805 129810805 Broad OR2F2 135948 broad.mit.edu GRCh37 7 143632336 143632336 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000408955.2:c.11A>G p.Asp4Gly p.D4G ENST00000408955 NM_001004685.1 4 gAt/gGt 0 Missense_Mutation A 12 OR2F2 SNP 7 A G 143263269 143263269 Broad DNAJB6 10049 broad.mit.edu GRCh37 7 157178322 157178322 + intron_variant Intron SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000262177.4:c.691+17G>A *231* ENST00000262177 NM_058246.3 0 Silent G 46 DNAJB6 SNP 7 G A 156871083 156871083 Broad GPR124 25960 broad.mit.edu GRCh37 8 37690582 37690582 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000412232.2:c.1152C>T p.Pro384= p.P384= ENST00000412232 NM_032777.9 384 ccC/ccT 0 Silent C 24 GPR124 SNP 8 C T 37809740 37809740 Broad EYA1 2138 broad.mit.edu GRCh37 8 72234085 72234085 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000340726.3:c.302C>T p.Pro101Leu p.P101L ENST00000340726 NM_000503.4 101 cCt/cTt 0 Missense_Mutation G 35 EYA1 SNP 8 G A 72396639 72396639 Broad TRPM3 80036 broad.mit.edu GRCh37 9 73168117 73168117 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000377110.3:c.3297G>T p.Val1099= p.V1099= ENST00000377110 1099 gtG/gtT 0 Silent C 21 TRPM3 SNP 9 C A 72357937 72357937 Broad CNTRL 11064 broad.mit.edu GRCh37 9 123877463 123877463 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000373855.1:c.1440T>C p.Ala480= p.A480= ENST00000373855 480 gcT/gcC 0 Silent T 53 CEP110 SNP 9 T C 122917284 122917284 Broad RALGPS1 9649 broad.mit.edu GRCh37 9 129928470 129928470 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000259351.5:c.733G>C p.Val245Leu p.V245L ENST00000259351 NM_014636.2 245 Gtt/Ctt 0 Missense_Mutation G 36 RALGPS1 SNP 9 G C 128968291 128968291 Broad QSOX2 169714 broad.mit.edu GRCh37 9 139101049 139101049 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000358701.5:c.1622A>G p.Glu541Gly p.E541G ENST00000358701 NM_181701.3 541 gAg/gGg 0 Missense_Mutation T 54 QSOX2 SNP 9 T C 138240870 138240870 Broad RPS6KA3 6197 broad.mit.edu GRCh37 X 20194459 20194459 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000379565.3:c.1011A>G p.Arg337= p.R337= ENST00000379565 NM_004586.2 337 agA/agG 0 Silent T 62 RPS6KA3 SNP 23 T C 20104380 20104380 Broad MAGEA3 4102 broad.mit.edu GRCh37 X 151935390 151935390 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown x x x ENST00000393902.3:c.777G>T p.Arg259= p.R259= ENST00000393902 259 cgG/cgT 0 Silent C 26 MAGEA3 SNP 23 C A 151686046 151686046 Broad USP44 84101 broad.mit.edu GRCh37 12 95912070 95912087 + inframe_deletion In_Frame_Del DEL TGCATACTTCATCCATAG TGCATACTTCATCCATAG - novel Unknown TCGA-25-2392-01 TCGA-25-2392-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000258499.3:c.1982_1999del p.Thr661_Cys666del p.T661_C666del ENST00000258499 NM_032147.3 661 aCTATGGATGAAGTATGCAag/aag 0 In_Frame_Del TGCATACTTCATCCATAG 63 USP44 DEL 12 - TGCATACTTCATCCATAG 94436218 94436201 Broad HECTD3 79654 broad.mit.edu GRCh37 1 45475345 45475345 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000372172.4:c.770A>G p.Asn257Ser p.N257S ENST00000372172 NM_024602.5 257 aAc/aGc 0 Missense_Mutation T 60 HECTD3 SNP 1 T C 45247932 45247932 Broad MAGI3 260425 broad.mit.edu GRCh37 1 114214377 114214377 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000307546.9:c.2837G>A p.Gly946Glu p.G946E ENST00000307546 NM_001142782.1 946 gGa/gAa 0 Missense_Mutation G 41 MAGI3 SNP 1 G A 114015900 114015900 Broad KPRP 448834 broad.mit.edu GRCh37 1 152732622 152732622 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000368773.1:c.558C>T p.Gly186= p.G186= ENST00000368773 NM_001025231.1 186 ggC/ggT 0 Silent C 28 KPRP SNP 1 C T 150999246 150999246 Broad DHX9 1660 broad.mit.edu GRCh37 1 182812436 182812436 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000367549.3:c.119T>G p.Val40Gly p.V40G ENST00000367549 NM_001357.4 40 gTg/gGg 0 Missense_Mutation T 59 DHX9 SNP 1 T G 181079059 181079059 Broad OR2L13 284521 broad.mit.edu GRCh37 1 248263372 248263372 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000366478.2:c.695G>A p.Gly232Glu p.G232E ENST00000366478 NM_175911.2 232 gGg/gAg 0 Missense_Mutation G 43 OR2L13 SNP 1 G A 246329995 246329995 Broad NPY4R broad.mit.edu GRCh37 10 47087274 47087274 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000374312.1:c.491G>A p.Trp164Ter p.W164* ENST00000374312 NM_005972.5 164 tGg/tAg 0 Nonsense_Mutation G 47 PPYR1 SNP 10 G A 46507280 46507280 Broad C10orf118 55088 broad.mit.edu GRCh37 10 115917409 115917409 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000369287.3:c.663G>A p.Glu221= p.E221= ENST00000369287 NM_018017.2 221 gaG/gaA 0 Silent C 28 C10orf118 SNP 10 C T 115907399 115907399 Broad OR52E4 390081 broad.mit.edu GRCh37 11 5906140 5906140 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000316987.2:c.618T>C p.Ser206= p.S206= ENST00000316987 NM_001005165.1 206 tcT/tcC 0 Silent T 56 OR52E4 SNP 11 T C 5862716 5862716 Broad NEU3 10825 broad.mit.edu GRCh37 11 74705648 74705648 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000294064.4:c.189C>T p.Leu63= p.L63= ENST00000294064 NM_006656.5 63 ctC/ctT 0 Silent C 32 NEU3 SNP 11 C T 74383296 74383296 Broad AEBP2 121536 broad.mit.edu GRCh37 12 19593257 19593257 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000398864.3:c.624G>A p.Glu208= p.E208= ENST00000398864 NM_001114176.1 208 gaG/gaA 0 Silent G 33 AEBP2 SNP 12 G A 19484524 19484524 Broad AHNAK2 113146 broad.mit.edu GRCh37 14 105412849 105412849 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000333244.5:c.8939T>G p.Met2980Arg p.M2980R ENST00000333244 NM_138420.2 2980 aTg/aGg 0 Missense_Mutation A 8 AHNAK2 SNP 14 A C 104483894 104483894 Broad VPS18 57617 broad.mit.edu GRCh37 15 41191655 41191655 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000220509.5:c.639C>T p.Gly213= p.G213= ENST00000220509 NM_020857.2 213 ggC/ggT 0 Silent C 26 VPS18 SNP 15 C T 38978947 38978947 Broad ARNT2 9915 broad.mit.edu GRCh37 15 80800500 80800500 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000303329.4:c.626G>A p.Arg209Gln p.R209Q ENST00000303329 NM_014862.3 209 cGg/cAg 0 Missense_Mutation G 39 ARNT2 SNP 15 G A 78587555 78587555 Broad ZC3H7A 29066 broad.mit.edu GRCh37 16 11857502 11857502 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000396516.2:c.1834A>G p.Ile612Val p.I612V ENST00000396516 612 Att/Gtt 0 Missense_Mutation T 51 ZC3H7A SNP 16 T C 11765003 11765003 Broad FBXL19 54620 broad.mit.edu GRCh37 16 30958164 30958164 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000380310.2:c.1801G>A p.Ala601Thr p.A601T ENST00000380310 NM_001099784.2 601 Gcc/Acc 0 Missense_Mutation G 38 FBXL19 SNP 16 G A 30865665 30865665 Broad FAM83G 644815 broad.mit.edu GRCh37 17 18874744 18874744 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000388995.6:c.2400G>A p.Thr800= p.T800= ENST00000388995 800 acG/acA 0 Silent C 23 FAM83G SNP 17 C T 18815469 18815469 Broad UNC45B 146862 broad.mit.edu GRCh37 17 33475450 33475450 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000268876.5:c.168G>A p.Thr56= p.T56= ENST00000268876 NM_173167.2 56 acG/acA 0 Silent G 39 UNC45B SNP 17 G A 30499563 30499563 Broad DDX5 1655 broad.mit.edu GRCh37 17 62499129 62499129 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000225792.5:c.898A>G p.Ile300Val p.I300V ENST00000225792 NM_004396.3 300 Ata/Gta 0 Missense_Mutation T 49 DDX5 SNP 17 T C 59929591 59929591 Broad DSG3 1830 broad.mit.edu GRCh37 18 29055915 29055915 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000257189.4:c.2692T>G p.Cys898Gly p.C898G ENST00000257189 NM_001944.2 898 Tgc/Ggc 0 Missense_Mutation T 59 DSG3 SNP 18 T G 27309913 27309913 Broad TPM4 7171 broad.mit.edu GRCh37 19 16178452 16178452 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000538887.1:c.18G>A p.Lys6= p.K6= ENST00000538887 6 aaG/aaA 0 Silent G 33 TPM4 SNP 19 G A 16039452 16039452 Broad CCDC85A 114800 broad.mit.edu GRCh37 2 56599594 56599594 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000407595.2:c.1433G>A p.Arg478Gln p.R478Q ENST00000407595 NM_001080433.1 478 cGa/cAa 0 Missense_Mutation G 37 CCDC85A SNP 2 G A 56453098 56453098 Broad TET3 200424 broad.mit.edu GRCh37 2 74329292 74329292 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000409262.3:c.4972C>T p.Arg1658Cys p.R1658C ENST00000409262 NM_144993.1 1658 Cgc/Tgc 0 Missense_Mutation C 23 TET3 SNP 2 C T 74182800 74182800 Broad AMER3 205147 broad.mit.edu GRCh37 2 131522197 131522197 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000423981.1:c.2552C>T p.Ala851Val p.A851V ENST00000423981 NM_001105194.1 851 gCc/gTc 0 Missense_Mutation C 26 FAM123C SNP 2 C T 131238667 131238667 Broad DGKD 8527 broad.mit.edu GRCh37 2 234367037 234367037 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000264057.2:c.2688C>T p.Ile896= p.I896= ENST00000264057 NM_152879.2 896 atC/atT 0 Silent C 31 DGKD SNP 2 C T 234031776 234031776 Broad ZNF831 128611 broad.mit.edu GRCh37 20 57782030 57782030 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000371030.2:c.3946C>T p.Arg1316Ter p.R1316* ENST00000371030 NM_178457.2 1316 Cga/Tga 0 Nonsense_Mutation C 27 ZNF831 SNP 20 C T 57215425 57215425 Broad KBTBD8 84541 broad.mit.edu GRCh37 3 67054290 67054290 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000417314.2:c.899A>G p.Lys300Arg p.K300R ENST00000417314 300 aAg/aGg 0 Missense_Mutation A 3 KBTBD8 SNP 3 A G 67136980 67136980 Broad TNPO1 3842 broad.mit.edu GRCh37 5 72168473 72168473 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000337273.5:c.604G>A p.Ala202Thr p.A202T ENST00000337273 NM_002270.3 202 Gct/Act 0 Missense_Mutation G 38 TNPO1 SNP 5 G A 72204229 72204229 Broad ETF1 2107 broad.mit.edu GRCh37 5 137854397 137854397 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000360541.5:c.246C>A p.Leu82= p.L82= ENST00000360541 NM_004730.3 82 ctC/ctA 0 Silent G 45 ETF1 SNP 5 G T 137882296 137882296 Broad PCDHB16 57717 broad.mit.edu GRCh37 5 140564006 140564006 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000361016.2:c.1872G>A p.Val624= p.V624= ENST00000361016 NM_020957.1 624 gtG/gtA 0 Silent G 46 PCDHB16 SNP 5 G A 140544190 140544190 Broad KCTD16 57528 broad.mit.edu GRCh37 5 143853578 143853578 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000507359.3:c.1188G>A p.Glu396= p.E396= ENST00000507359 NM_020768.3 396 gaG/gaA 0 Silent G 33 KCTD16 SNP 5 G A 143833771 143833771 Broad ABCC10 89845 broad.mit.edu GRCh37 6 43415478 43415478 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000372530.4:c.3762G>A p.Ala1254= p.A1254= ENST00000372530 NM_001198934.1 1254 gcG/gcA 0 Silent G 40 ABCC10 SNP 6 G A 43523456 43523456 Broad TBX18 9096 broad.mit.edu GRCh37 6 85472351 85472351 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000369663.5:c.408G>A p.Pro136= p.P136= ENST00000369663 NM_001080508.2 136 ccG/ccA 0 Silent C 27 TBX18 SNP 6 C T 85529070 85529070 Broad ANKRD6 22881 broad.mit.edu GRCh37 6 90323541 90323541 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000522441.1:c.547C>T p.Arg183Cys p.R183C ENST00000522441 NM_001242811.1 183 Cgc/Tgc 0 Missense_Mutation C 27 ANKRD6 SNP 6 C T 90380262 90380262 Broad ETV1 2115 broad.mit.edu GRCh37 7 13971229 13971229 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000405192.2:c.700C>T p.Pro234Ser p.P234S ENST00000405192 NM_001163147.1 234 Cca/Tca 0 Missense_Mutation G 43 ETV1 SNP 7 G A 13937754 13937754 Broad DGKB 1607 broad.mit.edu GRCh37 7 14647099 14647099 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000403951.2:c.1396C>G p.Arg466Gly p.R466G ENST00000403951 466 Cgt/Ggt 0 Missense_Mutation G 37 DGKB SNP 7 G C 14613624 14613624 Broad CRCP 27297 broad.mit.edu GRCh37 7 65579900 65579900 + 5_prime_UTR_variant 5'UTR SNP G G A novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000395326.3:c.-50G>A *17* ENST00000395326 NM_014478.4 0 Missense_Mutation G 36 CRCP SNP 7 G A 65217335 65217335 Broad BAZ1B 9031 broad.mit.edu GRCh37 7 72884711 72884711 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000339594.4:c.2696G>A p.Arg899His p.R899H ENST00000339594 NM_032408.3 899 cGc/cAc 0 Missense_Mutation C 27 BAZ1B SNP 7 C T 72522647 72522647 Broad PRKDC 5591 broad.mit.edu GRCh37 8 48734191 48734191 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000314191.2:c.9082A>G p.Lys3028Glu p.K3028E ENST00000314191 NM_006904.6 3028 Aaa/Gaa 0 Missense_Mutation T 61 PRKDC SNP 8 T C 48896744 48896744 Broad TRPA1 8989 broad.mit.edu GRCh37 8 72971638 72971638 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000262209.4:c.980A>C p.Tyr327Ser p.Y327S ENST00000262209 NM_007332.2 327 tAt/tCt 0 Missense_Mutation T 49 TRPA1 SNP 8 T G 73134192 73134192 Broad KIAA1161 57462 broad.mit.edu GRCh37 9 34371740 34371740 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x ENST00000297625.7:c.1100G>A p.Arg367His p.R367H ENST00000297625 NM_020702.3 367 cGc/cAc 0 Missense_Mutation C 27 KIAA1161 SNP 9 C T 34361740 34361740 Broad TP53 7157 broad.mit.edu GRCh37 17 7579423 7579432 + frameshift_variant Frame_Shift_Del DEL GGCTGGTGCA GGCTGGTGCA - novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.255_264del p.Ala86ProfsTer34 p.A86Pfs*34 ENST00000269305 NM_001126112.2 85 ccTGCACCAGCC/cc 0 Frame_Shift_Del GGCTGGTGCA 43 TP53 DEL 17 - - 7520157 7520148 Broad AFF3 3899 hgsc.bcm.edu GRCh37 2 100623096 100623096 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356421.2:c.946G>A p.Glu316Lys p.E316K ENST00000356421 NM_001025108.1 316 Gag/Aag 0 Missense_Mutation C 30 AFF3 SNP 2 C T 99989528 99989528 Baylor AKAP6 9472 hgsc.bcm.edu GRCh37 14 33147545 33147545 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000280979.4:c.2759C>T p.Ala920Val p.A920V ENST00000280979 NM_004274.4 920 gCa/gTa 0 Missense_Mutation C 25 AKAP6 SNP 14 C T 32217296 32217296 Baylor AKAP8 10270 hgsc.bcm.edu GRCh37 19 15469826 15469826 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269701.2:c.1575T>G p.Ser525Arg p.S525R ENST00000269701 NM_005858.3 525 agT/agG 0 Missense_Mutation A 6 AKAP8 SNP 19 A C 15330826 15330826 Baylor AKAP9 10142 hgsc.bcm.edu GRCh37 7 91652178 91652179 + inframe_insertion In_Frame_Ins INS - - AAC rs10644111 Unknown TCGA-04-1365-01 TCGA-04-1365-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356239.3:c.4004_4006dupAAC p.Lys1335_Leu1336insGln p.K1335_L1336insQ ENST00000356239 NM_147185.2 1335 aaa/aAACaa 0 In_Frame_Ins - 13 AKAP9 INS 7 - AAC 91490115 91490114 Baylor ASXL3 80816 hgsc.bcm.edu GRCh37 18 31325799 31325800 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269197.5:c.5988dup p.Lys1997GlufsTer4 p.K1997Efs*4 ENST00000269197 NM_030632.1 1996 atg/atGg 0 Frame_Shift_Ins - 51 ASXL3 INS 18 - G 29579798 29579797 Baylor BAI3 577 hgsc.bcm.edu GRCh37 6 69703788 69703788 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370598.1:c.1863G>T p.Glu621Asp p.E621D ENST00000370598 NM_001704.2 621 gaG/gaT 0 Missense_Mutation G 33 BAI3 SNP 6 G T 69760509 69760509 Baylor BTN2A1 11120 hgsc.bcm.edu GRCh37 6 26463506 26463507 + frameshift_variant Frame_Shift_Del DEL CC CC - novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 CC CC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000312541.5:c.465_466del p.His156Ter p.H156* ENST00000312541 NM_007049.4 155 ggCCat/ggat 0 Frame_Shift_Del CC 26 BTN2A1 DEL 6 CC - 26571486 26571485 Baylor C20orf85 128602 hgsc.bcm.edu GRCh37 20 56735753 56735753 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371168.3:c.289G>T p.Gly97Cys p.G97C ENST00000371168 NM_178456.2 97 Ggc/Tgc 0 Missense_Mutation G 43 C20orf85 SNP 20 G T 56169159 56169159 Baylor CHRNA7 1139 hgsc.bcm.edu GRCh37 15 32450704 32450704 + synonymous_variant Silent SNP G G A rs1042722 Unknown TCGA-04-1365-01 TCGA-04-1365-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000454250.3:c.777G>A p.Thr259= p.T259= ENST00000454250 NM_001190455.2 259 acG/acA 0 Silent G 38 CHRNA7 SNP 15 G A 30237996 30237996 Baylor COQ2 27235 hgsc.bcm.edu GRCh37 4 84188772 84188772 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311469.4:c.1068C>T p.Ala356= p.A356= ENST00000311469 NM_015697.7 356 gcC/gcT 0 Silent G 43 COQ2 SNP 4 G A 84407796 84407796 Baylor COX10 1352 hgsc.bcm.edu GRCh37 17 13972951 13972952 + frameshift_variant Frame_Shift_Del DEL CA CA - novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 CA CA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261643.3:c.30_31del p.Arg11ProfsTer14 p.R11Pfs*14 ENST00000261643 NM_001303.3 10 tCA/t 0 Frame_Shift_Del CA 29 COX10 DEL 17 CA - 13913677 13913676 Baylor CPA5 93979 hgsc.bcm.edu GRCh37 7 130002800 130002800 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000485477.1:c.712A>T p.Thr238Ser p.T238S ENST00000485477 238 Aca/Tca 0 Missense_Mutation A 6 CPA5 SNP 7 A T 129790036 129790036 Baylor CSMD1 64478 hgsc.bcm.edu GRCh37 8 3263551 3263551 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000537824.1:c.2264A>T p.Glu755Val p.E755V ENST00000537824 NM_033225.5 755 gAa/gTa 0 Missense_Mutation T 62 CSMD1 SNP 8 T A 3250958 3250958 Baylor DMD 1756 hgsc.bcm.edu GRCh37 X 31140012 31140012 + 3_prime_UTR_variant 3'UTR SNP C C A novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357033.4:c.*24G>T *8* ENST00000357033 NM_004007.2 0 Missense_Mutation C 29 DMD SNP 23 C A 31049933 31049933 Baylor DOCK11 139818 hgsc.bcm.edu GRCh37 X 117731481 117731497 + frameshift_variant Frame_Shift_Del DEL GCTACTTGAATCTGAAT GCTACTTGAATCTGAAT - novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 GCTACTTGAATCTGAAT GCTACTTGAATCTGAAT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000276202.7:c.2352_2368del p.Tyr785CysfsTer8 p.Y785Cfs*8 ENST00000276202 NM_144658.3 784 gGCTACTTGAATCTGAAT/g 0 Frame_Shift_Del GCTACTTGAATCTGAAT 42 DOCK11 DEL 23 GCTACTTGAATCTGAAT - 117615525 117615509 Baylor EGFR 1956 hgsc.bcm.edu GRCh37 7 55224296 55224296 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000275493.2:c.1077C>T p.Phe359= p.F359= ENST00000275493 NM_005228.3 359 ttC/ttT 0 Silent C 29 EGFR SNP 7 C T 55191790 55191790 Baylor ELAVL2 1993 hgsc.bcm.edu GRCh37 9 23692568 23692568 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397312.2:c.1067C>T p.Thr356Met p.T356M ENST00000397312 NM_004432.3 356 aCg/aTg 0 Missense_Mutation G 40 ELAVL2 SNP 9 G A 23682568 23682568 Baylor EPS8L3 79574 hgsc.bcm.edu GRCh37 1 110299773 110299773 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369805.3:c.987C>A p.Cys329Ter p.C329* ENST00000369805 NM_139053.2 329 tgC/tgA 0 Nonsense_Mutation G 42 EPS8L3 SNP 1 G T 110101296 110101296 Baylor FAM170A 340069 hgsc.bcm.edu GRCh37 5 118969942 118969942 + missense_variant,NMD_transcript_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000335286.6:c.499G>C p.Val167Leu p.V167L ENST00000335286 NM_182761.3 167 Gtg/Ctg 0 Missense_Mutation G 48 FAM170A SNP 5 G C 118997841 118997841 Baylor RALGAPA1 253959 hgsc.bcm.edu GRCh37 14 36074913 36074913 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000307138.6:c.5414G>T p.Arg1805Leu p.R1805L ENST00000307138 NM_194301.2 1805 cGa/cTa 0 Missense_Mutation C 31 RALGAPA1 SNP 14 C A 35144664 35144664 Baylor RALGAPA1 253959 hgsc.bcm.edu GRCh37 14 36104683 36104683 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000307138.6:c.4280A>G p.Asn1427Ser p.N1427S ENST00000307138 NM_194301.2 1427 aAt/aGt 0 Missense_Mutation T 52 RALGAPA1 SNP 14 T C 35174434 35174434 Baylor GART 2618 hgsc.bcm.edu GRCh37 21 34882122 34882122 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381831.3:c.2420delA p.Lys807ArgfsTer7 p.K807Rfs*7 ENST00000381831 NM_001136005.1 807 aAg/ag 0 Frame_Shift_Del T 56 GART DEL 21 T - 33803992 33803992 Baylor GRM1 2911 hgsc.bcm.edu GRCh37 6 146351338 146351338 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361719.2:c.685G>T p.Ala229Ser p.A229S ENST00000361719 229 Gca/Tca 0 Missense_Mutation G 46 GRM1 SNP 6 G T 146393031 146393031 Baylor HCN1 348980 hgsc.bcm.edu GRCh37 5 45645336 45645336 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000303230.4:c.800G>T p.Arg267Leu p.R267L ENST00000303230 NM_021072.3 267 cGt/cTt 0 Missense_Mutation C 19 HCN1 SNP 5 C A 45681093 45681093 Baylor HNF1B 6928 hgsc.bcm.edu GRCh37 17 36070604 36070604 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000225893.4:c.1113C>T p.Asn371= p.N371= ENST00000225893 NM_001165923.1 371 aaC/aaT 0 Silent G 48 HNF1B SNP 17 G A 33144717 33144717 Baylor MACF1 23499 hgsc.bcm.edu GRCh37 1 39823311 39823311 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000545844.1:c.5503G>A p.Glu1835Lys p.E1835K ENST00000545844 1835 Gag/Aag 0 Missense_Mutation G 37 MACF1 SNP 1 G A 39595898 39595898 Baylor NBPF12 149013 hgsc.bcm.edu GRCh37 1 146462785 146462785 + missense_variant Missense_Mutation SNP T T C rs4098124 Unknown TCGA-04-1365-01 TCGA-04-1365-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000442909.2:c.9373T>C p.Tyr3125His p.Y3125H ENST00000442909 3125 Tac/Cac 0 Missense_Mutation T 61 NBPF12 SNP 1 T C 144929408 144929408 Baylor NCOA3 8202 hgsc.bcm.edu GRCh37 20 46277797 46277798 + inframe_insertion In_Frame_Ins INS - - CTG novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371998.3:c.3599_3601dup p.Ala1200dup p.A1200dup ENST00000371998 1199 act/aCTGct 0 In_Frame_Ins - 14 NCOA3 INS 20 - CTG 45711205 45711204 Baylor OR11G2 390439 hgsc.bcm.edu GRCh37 14 20666175 20666176 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357366.3:c.687dupA p.Gly230ArgfsTer74 p.G230Rfs*74 ENST00000357366 NM_001005503.1 227 -/A 0 Frame_Shift_Ins - 25 OR11G2 INS 14 - A 19736016 19736015 Baylor P2RY2 5029 hgsc.bcm.edu GRCh37 11 72945452 72945452 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311131.2:c.248C>T p.Ala83Val p.A83V ENST00000311131 NM_176072.2 83 gCg/gTg 0 Missense_Mutation C 27 P2RY2 SNP 11 C T 72623100 72623100 Baylor PROM2 150696 hgsc.bcm.edu GRCh37 2 95941696 95941696 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000317620.9:c.313G>T p.Gly105Cys p.G105C ENST00000317620 NM_001165978.1 105 Ggc/Tgc 0 Missense_Mutation G 43 PROM2 SNP 2 G T 95305423 95305423 Baylor RYR3 6263 hgsc.bcm.edu GRCh37 15 34137080 34137082 + inframe_deletion In_Frame_Del DEL AGA AGA - novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 AGA AGA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000389232.4:c.13320_13322delAGA p.Glu4441del p.E4441del ENST00000389232 NM_001036.3 4438 ttAGAa/tta 0 In_Frame_Del AGA 15 RYR3 DEL 15 AGA - 31924374 31924372 Baylor SLC12A9 56996 hgsc.bcm.edu GRCh37 7 100454599 100454601 + inframe_deletion In_Frame_Del DEL CGG CGG - novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 CGG CGG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354161.3:c.559_561del p.Gly187del p.G187del ENST00000354161 NM_020246.3 186 gcCGGc/gcc 0 In_Frame_Del CGG 23 SLC12A9 DEL 7 CGG - 100292537 100292535 Baylor SLC5A12 159963 hgsc.bcm.edu GRCh37 11 26705372 26705372 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000396005.3:c.1240G>A p.Gly414Ser p.G414S ENST00000396005 NM_178498.3 414 Ggc/Agc 0 Missense_Mutation C 23 SLC5A12 SNP 11 C T 26661948 26661948 Baylor SRCIN1 80725 hgsc.bcm.edu GRCh37 17 36705408 36705408 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264659.7:c.3001T>G p.Ser1001Ala p.S1001A ENST00000264659 NM_025248.2 1001 Tcc/Gcc 0 Missense_Mutation A 11 SRCIN1 SNP 17 A C 33958934 33958934 Baylor SNRPB 6628 hgsc.bcm.edu GRCh37 20 2446385 2446385 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000438552.2:c.236C>T p.Ser79Leu p.S79L ENST00000438552 NM_198216.1 79 tCa/tTa 0 Missense_Mutation G 45 SNRPB SNP 20 G A 2394385 2394385 Baylor SNX7 51375 hgsc.bcm.edu GRCh37 1 99161101 99161101 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000306121.3:c.667C>T p.Pro223Ser p.P223S ENST00000306121 NM_015976.4 223 Cct/Tct 0 Missense_Mutation C 30 SNX7 SNP 1 C T 98933689 98933689 Baylor TMPRSS2 7113 hgsc.bcm.edu GRCh37 21 42840396 42840396 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000398585.3:c.1352A>T p.Tyr451Phe p.Y451F ENST00000398585 NM_001135099.1 451 tAt/tTt 0 Missense_Mutation T 49 TMPRSS2 SNP 21 T A 41762266 41762266 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578555 7578555 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269305.4:c.376-1G>A p.X126_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 20 TP53 SNP 17 C T 7519280 7519280 Baylor TRIP12 9320 hgsc.bcm.edu GRCh37 2 230668915 230668915 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000283943.5:c.2454T>A p.Asp818Glu p.D818E ENST00000283943 NM_004238.1 818 gaT/gaA 0 Missense_Mutation A 8 TRIP12 SNP 2 A T 230377159 230377159 Baylor TTN 7273 hgsc.bcm.edu GRCh37 2 179645975 179645975 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000589042.1:c.3396C>A p.Tyr1132Ter p.Y1132* ENST00000589042 NM_001267550.1 1132 taC/taA 0 Nonsense_Mutation G 48 TTN SNP 2 G T 179354220 179354220 Baylor ZFHX3 463 hgsc.bcm.edu GRCh37 16 72992268 72992268 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000268489.5:c.1777G>T p.Glu593Ter p.E593* ENST00000268489 NM_006885.3 593 Gaa/Taa 0 Nonsense_Mutation C 31 ZFHX3 SNP 16 C A 71549769 71549769 Baylor ZNF180 7733 hgsc.bcm.edu GRCh37 19 45001361 45001361 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000221327.4:c.107C>T p.Pro36Leu p.P36L ENST00000221327 NM_013256.4 36 cCa/cTa 0 Missense_Mutation G 47 ZNF180 SNP 19 G A 49693201 49693201 Baylor ZNF354A 6940 hgsc.bcm.edu GRCh37 5 178140242 178140242 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1365-01 TCGA-04-1365-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000335815.2:c.637C>T p.Arg213Cys p.R213C ENST00000335815 NM_005649.2 213 Cgc/Tgc 0 Missense_Mutation G 40 ZNF354A SNP 5 G A 178072848 178072848 Baylor MTOR 2475 broad.mit.edu GRCh37 1 11272938 11272938 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000361445.4:c.3313G>A p.Ala1105Thr p.A1105T ENST00000361445 NM_004958.3 1105 Gcc/Acc 0 Missense_Mutation C 27 MTOR SNP 1 C T 11195525 11195525 Broad HAO2 51179 broad.mit.edu GRCh37 1 119936413 119936413 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000325945.3:c.1006C>T p.Arg336Trp p.R336W ENST00000325945 NM_016527.2 336 Cgg/Tgg 0 Missense_Mutation C 23 HAO2 SNP 1 C T 119737936 119737936 Broad PGLYRP4 57115 broad.mit.edu GRCh37 1 153317834 153317834 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000359650.5:c.164C>T p.Thr55Met p.T55M ENST00000359650 NM_020393.2 55 aCg/aTg 0 Missense_Mutation G 40 PGLYRP4 SNP 1 G A 151584458 151584458 Broad DCST1 149095 broad.mit.edu GRCh37 1 155014239 155014239 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000295542.1:c.798G>A p.Lys266= p.K266= ENST00000295542 NM_152494.3 266 aaG/aaA 0 Silent G 34 DCST1 SNP 1 G A 153280863 153280863 Broad CHRM3 1131 broad.mit.edu GRCh37 1 240072215 240072215 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000255380.4:c.1464A>G p.Lys488= p.K488= ENST00000255380 NM_000740.2 488 aaA/aaG 0 Silent A 3 CHRM3 SNP 1 A G 238138838 238138838 Broad FAM171A1 221061 broad.mit.edu GRCh37 10 15256552 15256552 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000378116.4:c.1035T>C p.Pro345= p.P345= ENST00000378116 NM_001010924.1 345 ccT/ccC 0 Silent A 7 FAM171A1 SNP 10 A G 15296558 15296558 Broad MYBPC3 4607 broad.mit.edu GRCh37 11 47353745 47353745 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000545968.1:c.3692G>A p.Ser1231Asn p.S1231N ENST00000545968 NM_000256.3 1231 aGc/aAc 0 Missense_Mutation C 28 MYBPC3 SNP 11 C T 47310321 47310321 Broad TNKS1BP1 85456 broad.mit.edu GRCh37 11 57080996 57080996 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000532437.1:c.1166G>A p.Arg389Gln p.R389Q ENST00000532437 389 cGg/cAg 0 Missense_Mutation C 23 TNKS1BP1 SNP 11 C T 56837572 56837572 Broad HRASLS5 117245 broad.mit.edu GRCh37 11 63233592 63233592 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000301790.4:c.737G>A p.Arg246Gln p.R246Q ENST00000301790 246 cGg/cAg 0 Missense_Mutation C 23 HRASLS5 SNP 11 C T 62990168 62990168 Broad CLIP1 6249 broad.mit.edu GRCh37 12 122838999 122838999 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000540338.1:c.1307+1G>A p.X436_splice ENST00000540338 0 Splice_Site_SNP C 18 CLIP1 SNP 12 C T 121404952 121404952 Broad SCEL 8796 broad.mit.edu GRCh37 13 78176834 78176834 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000349847.3:c.1023T>A p.Asn341Lys p.N341K ENST00000349847 NM_144777.2 341 aaT/aaA 0 Missense_Mutation T 49 SCEL SNP 13 T A 77074835 77074835 Broad SRL 6345 broad.mit.edu GRCh37 16 4242677 4242677 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000399609.3:c.899C>T p.Pro300Leu p.P300L ENST00000399609 NM_001098814.1 300 cCg/cTg 0 Missense_Mutation G 39 SRL SNP 16 G A 4182678 4182678 Broad CDH8 1006 broad.mit.edu GRCh37 16 61854905 61854905 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000577390.1:c.948C>G p.Ile316Met p.I316M ENST00000577390 NM_001796.4 316 atC/atG 0 Missense_Mutation G 37 CDH8 SNP 16 G C 60412406 60412406 Broad ATP2A3 489 broad.mit.edu GRCh37 17 3850997 3850997 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000359983.3:c.783C>A p.Ser261= p.S261= ENST00000359983 261 tcC/tcA 0 Silent G 43 ATP2A3 SNP 17 G T 3797746 3797746 Broad TP53 7157 broad.mit.edu GRCh37 17 7577559 7577559 + missense_variant Missense_Mutation SNP G G A rs28934573 Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.722C>T p.Ser241Phe p.S241F ENST00000269305 NM_001126112.2 241 tCc/tTc 0 Missense_Mutation G 41 TP53 SNP 17 G A 7518284 7518284 Broad MYH1 4619 broad.mit.edu GRCh37 17 10395823 10395823 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000226207.5:c.5730C>T p.Ala1910= p.A1910= ENST00000226207 NM_005963.3 1910 gcC/gcT 0 Silent G 39 MYH1 SNP 17 G A 10336548 10336548 Broad MC5R 4161 broad.mit.edu GRCh37 18 13826571 13826571 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000324750.3:c.807C>T p.Tyr269= p.Y269= ENST00000324750 NM_005913.2 269 taC/taT 0 Silent C 20 MC5R SNP 18 C T 13816571 13816571 Broad DENND1C 79958 broad.mit.edu GRCh37 19 6467577 6467577 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000381480.2:c.2344C>T p.Gln782Ter p.Q782* ENST00000381480 NM_024898.2 782 Caa/Taa 0 Nonsense_Mutation G 45 DENND1C SNP 19 G A 6418577 6418577 Broad CLIP3 25999 broad.mit.edu GRCh37 19 36508837 36508837 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000360535.4:c.1240G>A p.Ala414Thr p.A414T ENST00000360535 NM_015526.2 414 Gcc/Acc 0 Missense_Mutation C 26 CLIP3 SNP 19 C T 41200677 41200677 Broad INSIG2 51141 broad.mit.edu GRCh37 2 118860793 118860793 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000245787.4:c.265C>G p.Pro89Ala p.P89A ENST00000245787 NM_016133.2 89 Ccc/Gcc 0 Missense_Mutation C 22 INSIG2 SNP 2 C G 118577263 118577263 Broad MAP3K19 80122 broad.mit.edu GRCh37 2 135779323 135779323 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000375845.3:c.100A>T p.Asn34Tyr p.N34Y ENST00000375845 NM_025052.3 34 Aat/Tat 0 Missense_Mutation T 64 YSK4 SNP 2 T A 135495793 135495793 Broad MYO3B 140469 broad.mit.edu GRCh37 2 171248912 171248912 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000408978.4:c.1698A>T p.Gly566= p.G566= ENST00000408978 NM_138995.4 566 ggA/ggT 0 Silent A 9 MYO3B SNP 2 A T 170957158 170957158 Broad FKBP7 51661 broad.mit.edu GRCh37 2 179343180 179343180 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000424785.2:c.47A>T p.Tyr16Phe p.Y16F ENST00000424785 NM_001135212.1 16 tAt/tTt 0 Missense_Mutation T 49 FKBP7 SNP 2 T A 179051426 179051426 Broad TTN 7273 broad.mit.edu GRCh37 2 179633498 179633498 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.9065C>T p.Thr3022Ile p.T3022I ENST00000589042 NM_001267550.1 3022 aCa/aTa 0 Missense_Mutation G 48 TTN SNP 2 G A 179341743 179341743 Broad MDH1B 130752 broad.mit.edu GRCh37 2 207619775 207619776 + missense_variant Missense_Mutation DNP CT CT TA novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000374412.3:c.867_868delinsTA p.Glu289_Ala290delinsAspThr p.E289_A290delinsDT ENST00000374412 NM_001039845.1 289 gaAGcg/gaTAcg 0 Missense_Mutation CT 28 MDH1B DNP 2 CT TA 207328021 207328020 Broad KANSL1L 151050 broad.mit.edu GRCh37 2 210888760 210888760 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000281772.9:c.2730C>G p.Thr910= p.T910= ENST00000281772 NM_152519.2 910 acC/acG 0 Silent G 47 C2orf67 SNP 2 G C 210597005 210597005 Broad EMILIN3 90187 broad.mit.edu GRCh37 20 39990364 39990364 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000332312.3:c.1845C>G p.Ala615= p.A615= ENST00000332312 NM_052846.1 615 gcC/gcG 0 Silent G 47 EMILIN3 SNP 20 G C 39423778 39423778 Broad MASP1 5648 broad.mit.edu GRCh37 3 186969527 186969527 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000296280.6:c.906A>G p.Pro302= p.P302= ENST00000296280 NM_139125.3 302 ccA/ccG 0 Silent T 55 MASP1 SNP 3 T C 188452221 188452221 Broad PLEKHG4B 153478 broad.mit.edu GRCh37 5 156195 156195 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000283426.6:c.1150G>T p.Glu384Ter p.E384* ENST00000283426 NM_052909.3 384 Gag/Tag 0 Nonsense_Mutation G 37 PLEKHG4B SNP 5 G T 209195 209195 Broad LIFR 3977 broad.mit.edu GRCh37 5 38523678 38523678 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000263409.4:c.404T>A p.Ile135Asn p.I135N ENST00000263409 NM_002310.5 135 aTt/aAt 0 Missense_Mutation A 4 LIFR SNP 5 A T 38559435 38559435 Broad PLK2 10769 broad.mit.edu GRCh37 5 57751872 57751872 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000274289.3:c.1365C>G p.Ser455Arg p.S455R ENST00000274289 NM_006622.3 455 agC/agG 0 Missense_Mutation G 34 PLK2 SNP 5 G C 57787629 57787629 Broad PCDHGA11 56105 broad.mit.edu GRCh37 5 140801499 140801499 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000398587.2:c.705T>G p.Asp235Glu p.D235E ENST00000398587 NM_032092.1 235 gaT/gaG 0 Missense_Mutation T 51 PCDHGA11 SNP 5 T G 140781683 140781683 Broad SLC36A3 285641 broad.mit.edu GRCh37 5 150657199 150657199 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000377713.3:c.1291C>T p.Arg431Cys p.R431C ENST00000377713 NM_001145017.1 431 Cgc/Tgc 0 Missense_Mutation G 39 SLC36A3 SNP 5 G A 150637392 150637392 Broad KIAA1191 57179 broad.mit.edu GRCh37 5 175774713 175774713 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000298569.4:c.808T>G p.Leu270Val p.L270V ENST00000298569 NM_020444.3 270 Ttg/Gtg 0 Missense_Mutation A 3 KIAA1191 SNP 5 A C 175707319 175707319 Broad GCM2 9247 broad.mit.edu GRCh37 6 10875154 10875154 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000379491.4:c.595C>G p.Gln199Glu p.Q199E ENST00000379491 NM_004752.3 199 Caa/Gaa 0 Missense_Mutation G 45 GCM2 SNP 6 G C 10983140 10983140 Broad UBR2 23304 broad.mit.edu GRCh37 6 42650839 42650839 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000372899.1:c.4765G>T p.Asp1589Tyr p.D1589Y ENST00000372899 NM_015255.2 1589 Gat/Tat 0 Missense_Mutation G 33 UBR2 SNP 6 G T 42758817 42758817 Broad MLIP 90523 broad.mit.edu GRCh37 6 53989552 53989552 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000274897.5:c.501G>A p.Ser167= p.S167= ENST00000274897 NM_138569.2 167 tcG/tcA 0 Silent G 40 C6orf142 SNP 6 G A 54097511 54097511 Broad PDSS2 57107 broad.mit.edu GRCh37 6 107595389 107595389 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000369037.4:c.474T>G p.Ala158= p.A158= ENST00000369037 NM_020381.3 158 gcT/gcG 0 Silent A 11 PDSS2 SNP 6 A C 107702082 107702082 Broad GAL3ST4 79690 broad.mit.edu GRCh37 7 99757868 99757868 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000360039.4:c.1144G>C p.Glu382Gln p.E382Q ENST00000360039 NM_024637.4 382 Gag/Cag 0 Missense_Mutation C 32 GAL3ST4 SNP 7 C G 99595804 99595804 Broad RELN 5649 broad.mit.edu GRCh37 7 103301822 103301822 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000428762.1:c.1441+1G>A p.X481_splice ENST00000428762 NM_005045.3 0 Splice_Site_SNP C 18 RELN SNP 7 C T 103089058 103089058 Broad RHOBTB2 23221 broad.mit.edu GRCh37 8 22864559 22864559 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000519685.1:c.867C>T p.Asp289= p.D289= ENST00000519685 NM_001160036.1 289 gaC/gaT 0 Silent C 19 RHOBTB2 SNP 8 C T 22920504 22920504 Broad KCNK9 51305 broad.mit.edu GRCh37 8 140630763 140630763 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000520439.1:c.863C>T p.Ala288Val p.A288V ENST00000520439 NM_001282534.1 288 gCg/gTg 0 Missense_Mutation G 38 KCNK9 SNP 8 G A 140699945 140699945 Broad TRPM3 80036 broad.mit.edu GRCh37 9 73151501 73151501 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000377110.3:c.4492C>T p.Arg1498Cys p.R1498C ENST00000377110 1498 Cgt/Tgt 0 Missense_Mutation G 38 TRPM3 SNP 9 G A 72341321 72341321 Broad GNA14 9630 broad.mit.edu GRCh37 9 80039058 80039058 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000341700.6:c.905G>A p.Arg302Lys p.R302K ENST00000341700 NM_004297.3 302 aGa/aAa 0 Missense_Mutation C 32 GNA14 SNP 9 C T 79228878 79228878 Broad PHF2 5253 broad.mit.edu GRCh37 9 96436128 96436128 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000359246.4:c.2610C>T p.Phe870= p.F870= ENST00000359246 NM_005392.3 870 ttC/ttT 0 Silent C 29 PHF2 SNP 9 C T 95475949 95475949 Broad ZNF189 7743 broad.mit.edu GRCh37 9 104170904 104170904 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000339664.2:c.854A>G p.Glu285Gly p.E285G ENST00000339664 NM_001278240.1 285 gAg/gGg 0 Missense_Mutation A 11 ZNF189 SNP 9 A G 103210725 103210725 Broad PPP1R26 9858 broad.mit.edu GRCh37 9 138378196 138378196 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000356818.2:c.1840G>C p.Val614Leu p.V614L ENST00000356818 NM_014811.3 614 Gtg/Ctg 0 Missense_Mutation G 44 KIAA0649 SNP 9 G C 137518017 137518017 Broad C9orf116 138162 broad.mit.edu GRCh37 9 138387405 138387405 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000429260.2:c.279G>T p.Met93Ile p.M93I ENST00000429260 NM_001048265.1 93 atG/atT 0 Missense_Mutation C 17 C9orf116 SNP 9 C A 137527226 137527226 Broad KAL1 3730 broad.mit.edu GRCh37 X 8553413 8553413 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000262648.3:c.751A>T p.Thr251Ser p.T251S ENST00000262648 NM_000216.2 251 Act/Tct 0 Missense_Mutation T 58 KAL1 SNP 23 T A 8513413 8513413 Broad MAP3K15 389840 broad.mit.edu GRCh37 X 19380952 19380952 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000338883.4:c.3583G>C p.Val1195Leu p.V1195L ENST00000338883 NM_001001671.3 1195 Gtt/Ctt 0 Missense_Mutation C 20 MAP3K15 SNP 23 C G 19290873 19290873 Broad FAM47C 442444 broad.mit.edu GRCh37 X 37026705 37026705 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000358047.3:c.222C>T p.Asp74= p.D74= ENST00000358047 NM_001013736.2 74 gaC/gaT 0 Silent C 19 FAM47C SNP 23 C T 36936626 36936626 Broad UPF3B 65109 broad.mit.edu GRCh37 X 118975082 118975082 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown x x x ENST00000276201.2:c.764G>A p.Arg255Lys p.R255K ENST00000276201 NM_080632.2 255 aGa/aAa 0 Missense_Mutation C 32 UPF3B SNP 23 C T 118859110 118859110 Broad PSG9 5678 broad.mit.edu GRCh37 19 43771977 43771978 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000270077.3:c.388dup p.Glu130GlyfsTer3 p.E130Gfs*3 ENST00000270077 NM_002784.3 130 gag/gGag 0 Frame_Shift_Ins - 54 PSG9 INS 19 C - 48463818 48463817 Broad SAP130 79595 broad.mit.edu GRCh37 2 128753991 128754003 + frameshift_variant Frame_Shift_Del DEL GGCTACTCCTCTC GGCTACTCCTCTC - novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000357702.5:c.1354_1366del p.Glu452Ter p.E452* ENST00000357702 NM_001145928.1 452 GAGAGGAGTAGCCtg/tg 0 Frame_Shift_Del GGCTACTCCTCTC 35 SAP130 DEL 2 - GGCTACTCCTCTC 128470473 128470461 Broad COL6A6 131873 broad.mit.edu GRCh37 3 130284412 130284430 + frameshift_variant Frame_Shift_Del DEL ACACACAGTCTCTGTCTTT ACACACAGTCTCTGTCTTT - novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000358511.6:c.1236_1254del p.His413GlnfsTer37 p.H413Qfs*37 ENST00000358511 NM_001102608.1 412 acACACACAGTCTCTGTCTTT/ac 0 Frame_Shift_Del ACACACAGTCTCTGTCTTT 6 COL6A6 DEL 3 - ACACACAGTCTCTGTCTTT 131767120 131767102 Broad ARHGAP18 93663 broad.mit.edu GRCh37 6 129959599 129959599 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-24-2254-01 TCGA-24-2254-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000368149.2:c.492del p.Lys164AsnfsTer54 p.K164Nfs*54 ENST00000368149 NM_033515.2 164 aaA/aa 0 Frame_Shift_Del T 60 ARHGAP18 DEL 6 - T 130001292 130001292 Broad ADAMTS14 140766 hgsc.bcm.edu GRCh37 10 72489923 72489923 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373208.1:c.1020C>A p.His340Gln p.H340Q ENST00000373208 NM_139155.2 340 caC/caA 0 Missense_Mutation C 20 ADAMTS14 SNP 10 C A 72159929 72159929 Baylor ADCY2 108 hgsc.bcm.edu GRCh37 5 7520994 7520994 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000338316.4:c.552G>A p.Lys184= p.K184= ENST00000338316 NM_020546.2 184 aaG/aaA 0 Silent G 35 ADCY2 SNP 5 G A 7573994 7573994 Baylor AIFM3 150209 hgsc.bcm.edu GRCh37 22 21330811 21330811 + synonymous_variant Silent SNP G G T novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399167.2:c.1014G>T p.Val338= p.V338= ENST00000399167 NM_144704.2 338 gtG/gtT 0 Silent G 47 AIFM3 SNP 22 G T 19660811 19660811 Baylor ANXA6 309 hgsc.bcm.edu GRCh37 5 150512081 150512081 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354546.5:c.692G>A p.Arg231Gln p.R231Q ENST00000354546 NM_001155.4 231 cGa/cAa 0 Missense_Mutation C 31 ANXA6 SNP 5 C T 150492274 150492274 Baylor ARMS2 387715 hgsc.bcm.edu GRCh37 10 124214258 124214258 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000528446.1:c.15C>A p.Tyr5Ter p.Y5* ENST00000528446 NM_001099667.1 5 taC/taA 0 Nonsense_Mutation C 18 ARMS2 SNP 10 C A 124204248 124204248 Baylor BNIP3L 665 hgsc.bcm.edu GRCh37 8 26265553 26265553 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380629.2:c.395A>C p.Glu132Ala p.E132A ENST00000380629 NM_004331.2 132 gAg/gCg 0 Missense_Mutation A 11 BNIP3L SNP 8 A C 26321470 26321470 Baylor BPNT1 10380 hgsc.bcm.edu GRCh37 1 220253167 220253167 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000469520.2:c.22T>G p.Leu8Val p.L8V ENST00000469520 8 Ttg/Gtg 0 Missense_Mutation A 2 BPNT1 SNP 1 A C 218319790 218319790 Baylor BRF1 2972 hgsc.bcm.edu GRCh37 14 105684028 105684028 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000546474.1:c.1625T>C p.Val542Ala p.V542A ENST00000546474 NM_001519.3 542 gTg/gCg 0 Missense_Mutation A 6 BRF1 SNP 14 A G 104755073 104755073 Baylor C20orf96 140680 hgsc.bcm.edu GRCh37 20 257959 257959 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360321.2:c.631C>G p.Leu211Val p.L211V ENST00000360321 NM_153269.2 211 Ctg/Gtg 0 Missense_Mutation G 35 C20orf96 SNP 20 G C 205959 205959 Baylor CREB3L4 148327 hgsc.bcm.edu GRCh37 1 153941144 153941144 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368607.3:c.143A>G p.Gln48Arg p.Q48R ENST00000368607 NM_001255980.1 48 cAa/cGa 0 Missense_Mutation A 5 CREB3L4 SNP 1 A G 152207768 152207768 Baylor EXD1 161829 hgsc.bcm.edu GRCh37 15 41476620 41476620 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000314992.5:c.1054A>C p.Lys352Gln p.K352Q ENST00000314992 NM_152596.2 352 Aaa/Caa 0 Missense_Mutation T 63 EXD1 SNP 15 T G 39263912 39263912 Baylor FAM177B 400823 hgsc.bcm.edu GRCh37 1 222922897 222922897 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000445590.2:c.332A>C p.Gln111Pro p.Q111P ENST00000445590 NM_207468.2 111 cAa/cCa 0 Missense_Mutation A 5 FAM177B SNP 1 A C 220989520 220989520 Baylor FAM71B 153745 hgsc.bcm.edu GRCh37 5 156590102 156590102 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302938.4:c.1174G>T p.Gly392Ter p.G392* ENST00000302938 NM_130899.2 392 Gga/Tga 0 Nonsense_Mutation C 24 FAM71B SNP 5 C A 156522680 156522680 Baylor FBXO24 26261 hgsc.bcm.edu GRCh37 7 100192162 100192162 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000427939.2:c.1064C>G p.Thr355Arg p.T355R ENST00000427939 NM_012172.4 355 aCa/aGa 0 Missense_Mutation C 17 FBXO24 SNP 7 C G 100030098 100030098 Baylor GLG1 2734 hgsc.bcm.edu GRCh37 16 74499607 74499607 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000205061.5:c.2634C>G p.Tyr878Ter p.Y878* ENST00000205061 NM_012201.5 878 taC/taG 0 Nonsense_Mutation G 48 GLG1 SNP 16 G C 73057108 73057108 Baylor HJURP 55355 hgsc.bcm.edu GRCh37 2 234750096 234750096 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000411486.2:c.1330G>A p.Glu444Lys p.E444K ENST00000411486 NM_018410.3 444 Gaa/Aaa 0 Missense_Mutation C 30 HJURP SNP 2 C T 234414835 234414835 Baylor IFT88 8100 hgsc.bcm.edu GRCh37 13 21230512 21230512 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000319980.6:c.2038C>G p.Gln680Glu p.Q680E ENST00000319980 NM_175605.3 680 Caa/Gaa 0 Missense_Mutation C 21 IFT88 SNP 13 C G 20128512 20128512 Baylor ILF3 3609 hgsc.bcm.edu GRCh37 19 10789296 10789296 + synonymous_variant Silent SNP A A G novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000449870.1:c.567A>G p.Leu189= p.L189= ENST00000449870 NM_017620.2 189 ctA/ctG 0 Silent A 16 ILF3 SNP 19 A G 10650296 10650296 Baylor LMCD1 29995 hgsc.bcm.edu GRCh37 3 8609271 8609271 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000157600.3:c.1085C>G p.Ser362Cys p.S362C ENST00000157600 NM_014583.3 362 tCc/tGc 0 Missense_Mutation C 30 LMCD1 SNP 3 C G 8584271 8584271 Baylor MAGED2 10916 hgsc.bcm.edu GRCh37 X 54841100 54841100 + synonymous_variant Silent SNP G G C novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375068.1:c.1278G>C p.Leu426= p.L426= ENST00000375068 426 ctG/ctC 0 Silent G 47 MAGED2 SNP 23 G C 54857825 54857825 Baylor KMT2B 9757 hgsc.bcm.edu GRCh37 19 36211742 36211742 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000222270.7:c.1493C>A p.Thr498Asn p.T498N ENST00000222270 NM_014727.1 498 aCc/aAc 0 Missense_Mutation C 18 MLL4 SNP 19 C A 40903582 40903582 Baylor MMP3 4314 hgsc.bcm.edu GRCh37 11 102709964 102709964 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000299855.5:c.946C>T p.Arg316Cys p.R316C ENST00000299855 NM_002422.3 316 Cgc/Tgc 0 Missense_Mutation G 38 MMP3 SNP 11 G A 102215174 102215174 Baylor MYBPC1 4604 hgsc.bcm.edu GRCh37 12 102038454 102038454 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000452455.2:c.770T>C p.Ile257Thr p.I257T ENST00000452455 NM_001254718.1 257 aTt/aCt 0 Missense_Mutation T 52 MYBPC1 SNP 12 T C 100562585 100562585 Baylor MYO5C 55930 hgsc.bcm.edu GRCh37 15 52553279 52553279 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000261839.7:c.1093G>C p.Glu365Gln p.E365Q ENST00000261839 NM_018728.3 365 Gag/Cag 0 Missense_Mutation C 30 MYO5C SNP 15 C G 50340571 50340571 Baylor NCAPD2 9918 hgsc.bcm.edu GRCh37 12 6635291 6635291 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000315579.5:c.2406T>G p.Asp802Glu p.D802E ENST00000315579 NM_014865.3 802 gaT/gaG 0 Missense_Mutation T 51 NCAPD2 SNP 12 T G 6505552 6505552 Baylor NIT2 56954 hgsc.bcm.edu GRCh37 3 100058713 100058713 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000394140.4:c.181A>G p.Ile61Val p.I61V ENST00000394140 NM_020202.4 61 Att/Gtt 0 Missense_Mutation A 4 NIT2 SNP 3 A G 101541403 101541403 Baylor NUP205 23165 hgsc.bcm.edu GRCh37 7 135258567 135258567 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000285968.6:c.337C>A p.Leu113Ile p.L113I ENST00000285968 NM_015135.2 113 Ctt/Att 0 Missense_Mutation C 32 NUP205 SNP 7 C A 134909107 134909107 Baylor OTUD6B 51633 hgsc.bcm.edu GRCh37 8 92082606 92082606 + synonymous_variant Silent SNP G G T novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000285420.4:c.84G>T p.Leu28= p.L28= ENST00000285420 NM_016023.3 28 ctG/ctT 0 Silent G 47 OTUD6B SNP 8 G T 92151782 92151782 Baylor PACS2 23241 hgsc.bcm.edu GRCh37 14 105857547 105857547 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000458164.2:c.2080G>A p.Val694Met p.V694M ENST00000458164 NM_001100913.2 694 Gtg/Atg 0 Missense_Mutation G 48 PACS2 SNP 14 G A 104928592 104928592 Baylor PACS2 23241 hgsc.bcm.edu GRCh37 14 105857549 105857549 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000458164.2:c.2082G>A p.Val694= p.V694= ENST00000458164 NM_001100913.2 694 gtG/gtA 0 Silent G 45 PACS2 SNP 14 G A 104928594 104928594 Baylor PCLO 27445 hgsc.bcm.edu GRCh37 7 82390692 82390692 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000333891.9:c.15125C>T p.Ser5042Phe p.S5042F ENST00000333891 NM_033026.5 5042 tCt/tTt 0 Missense_Mutation G 33 PCLO SNP 7 G A 82228628 82228628 Baylor PLSCR1 5359 hgsc.bcm.edu GRCh37 3 146246450 146246450 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000342435.4:c.263C>T p.Ala88Val p.A88V ENST00000342435 NM_021105.2 88 gCg/gTg 0 Missense_Mutation G 38 PLSCR1 SNP 3 G A 147729140 147729140 Baylor PPIG 9360 hgsc.bcm.edu GRCh37 2 170493409 170493409 + synonymous_variant Silent SNP A A G novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000260970.3:c.1641A>G p.Arg547= p.R547= ENST00000260970 NM_004792.2 547 agA/agG 0 Silent A 11 PPIG SNP 2 A G 170201655 170201655 Baylor PRKCZ 5590 hgsc.bcm.edu GRCh37 1 2082319 2082319 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378567.3:c.778C>T p.Arg260Cys p.R260C ENST00000378567 NM_002744.4 260 Cgc/Tgc 0 Missense_Mutation C 27 PRKCZ SNP 1 C T 2072179 2072179 Baylor PTPN12 5782 hgsc.bcm.edu GRCh37 7 77247807 77247807 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000248594.6:c.950A>T p.Asn317Ile p.N317I ENST00000248594 NM_002835.3 317 aAc/aTc 0 Missense_Mutation A 2 PTPN12 SNP 7 A T 77085743 77085743 Baylor RAG2 5897 hgsc.bcm.edu GRCh37 11 36614566 36614566 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000311485.3:c.1153T>C p.Cys385Arg p.C385R ENST00000311485 NM_000536.3 385 Tgt/Cgt 0 Missense_Mutation A 5 RAG2 SNP 11 A G 36571142 36571142 Baylor RASSF5 83593 hgsc.bcm.edu GRCh37 1 206760175 206760175 + synonymous_variant Silent SNP C C A novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355294.4:c.1122C>A p.Ile374= p.I374= ENST00000355294 NM_182663.2 374 atC/atA 0 Missense_Mutation C 30 RASSF5 SNP 1 C A 204826798 204826798 Baylor RUNDC3A 10900 hgsc.bcm.edu GRCh37 17 42392134 42392134 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000426726.3:c.490C>T p.Arg164Trp p.R164W ENST00000426726 NM_001144825.1 164 Cgg/Tgg 0 Missense_Mutation C 27 RUNDC3A SNP 17 C T 39747660 39747660 Baylor RYK 6259 hgsc.bcm.edu GRCh37 3 133896881 133896881 + synonymous_variant Silent SNP T T C novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000296084.4:c.1212A>G p.Glu404= p.E404= ENST00000296084 NM_001005861.2 404 gaA/gaG 0 Silent T 56 RYK SNP 3 T C 135379571 135379571 Baylor SCAP 22937 hgsc.bcm.edu GRCh37 3 47484372 47484372 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265565.5:c.112T>G p.Leu38Val p.L38V ENST00000265565 NM_012235.2 38 Tta/Gta 0 Missense_Mutation A 3 SCAP SNP 3 A C 47459376 47459376 Baylor SOCS4 122809 hgsc.bcm.edu GRCh37 14 55510295 55510295 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395472.2:c.536G>C p.Arg179Thr p.R179T ENST00000395472 NM_080867.2 179 aGa/aCa 0 Missense_Mutation G 33 SOCS4 SNP 14 G C 54580048 54580048 Baylor SPTB 6710 hgsc.bcm.edu GRCh37 14 65252635 65252635 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000389722.3:c.3596C>G p.Ser1199Cys p.S1199C ENST00000389722 NM_001024858.2 1199 tCc/tGc 0 Missense_Mutation G 41 SPTB SNP 14 G C 64322388 64322388 Baylor SRPR 6734 hgsc.bcm.edu GRCh37 11 126137087 126137087 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000332118.6:c.509delA p.Lys170ArgfsTer33 p.K170Rfs*33 ENST00000332118 NM_003139.3 170 aAg/ag 0 Frame_Shift_Del T 56 SRPR DEL 11 T - 125642297 125642297 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577094 7577094 + missense_variant Missense_Mutation SNP G G A rs28934574 Unknown TCGA-10-0937-01 TCGA-10-0937-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269305.4:c.844C>T p.Arg282Trp p.R282W ENST00000269305 NM_001126112.2 282 Cgg/Tgg 0 Missense_Mutation G 39 TP53 SNP 17 G A 7517819 7517819 Baylor TXNDC2 84203 hgsc.bcm.edu GRCh37 18 9887064 9887064 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000306084.6:c.588G>A p.Lys196= p.K196= ENST00000306084 NM_001098529.1 196 aaG/aaA 0 Silent G 36 TXNDC2 SNP 18 G A 9877064 9877064 Baylor UGDH 7358 hgsc.bcm.edu GRCh37 4 39511972 39511972 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000316423.6:c.663+1G>T p.X221_splice ENST00000316423 NM_001184701.1 0 Splice_Site_SNP C 18 UGDH SNP 4 C A 39188367 39188367 Baylor ZDHHC8 29801 hgsc.bcm.edu GRCh37 22 20126823 20126823 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000405930.3:c.211G>T p.Gly71Cys p.G71C ENST00000405930 NM_001185024.1 71 Ggt/Tgt 0 Missense_Mutation G 47 ZDHHC8 SNP 22 G T 18506823 18506823 Baylor ZER1 10444 hgsc.bcm.edu GRCh37 9 131516172 131516172 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0937-01 TCGA-10-0937-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000291900.2:c.225G>A p.Ser75= p.S75= ENST00000291900 NM_006336.3 75 tcG/tcA 0 Silent C 23 ZER1 SNP 9 C T 130555993 130555993 Baylor PRDM16 63976 broad.mit.edu GRCh37 1 3328714 3328714 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000270722.5:c.1953C>T p.Gly651= p.G651= ENST00000270722 651 ggC/ggT 0 Silent C 27 PRDM16 SNP 1 C T 3318574 3318574 Broad HEYL 26508 broad.mit.edu GRCh37 1 40105268 40105268 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000372852.3:c.30C>T p.Ser10= p.S10= ENST00000372852 NM_014571.3 10 tcC/tcT 0 Silent G 39 HEYL SNP 1 G A 39877855 39877855 Broad COL11A1 1301 broad.mit.edu GRCh37 1 103379910 103379910 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000370096.3:c.3976G>A p.Ala1326Thr p.A1326T ENST00000370096 NM_001854.3 1326 Gca/Aca 0 Missense_Mutation C 25 COL11A1 SNP 1 C T 103152498 103152498 Broad COL11A1 1301 broad.mit.edu GRCh37 1 103491077 103491077 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000370096.3:c.990G>A p.Glu330= p.E330= ENST00000370096 NM_001854.3 330 gaG/gaA 0 Silent C 24 COL11A1 SNP 1 C T 103263665 103263665 Broad PIFO 128344 broad.mit.edu GRCh37 1 111891250 111891250 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000369738.4:c.371A>C p.Lys124Thr p.K124T ENST00000369738 NM_181643.4 124 aAg/aCg 0 Missense_Mutation A 3 C1orf88 SNP 1 A C 111692773 111692773 Broad WNT2B 7482 broad.mit.edu GRCh37 1 113059875 113059875 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000369684.4:c.814G>T p.Ala272Ser p.A272S ENST00000369684 NM_024494.2 272 Gct/Tct 0 Missense_Mutation G 42 WNT2B SNP 1 G T 112861398 112861398 Broad TAF3 83860 broad.mit.edu GRCh37 10 8007168 8007168 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000344293.5:c.1695C>T p.Asp565= p.D565= ENST00000344293 NM_031923.3 565 gaC/gaT 0 Silent C 17 TAF3 SNP 10 C T 8047174 8047174 Broad SEPHS1 22929 broad.mit.edu GRCh37 10 13361288 13361288 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000327347.5:c.1033T>A p.Tyr345Asn p.Y345N ENST00000327347 NM_012247.4 345 Tat/Aat 0 Missense_Mutation A 16 SEPHS1 SNP 10 A T 13401294 13401294 Broad SKIDA1 387640 broad.mit.edu GRCh37 10 21805205 21805205 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000449193.2:c.1547C>G p.Ser516Trp p.S516W ENST00000449193 NM_207371.3 516 tCg/tGg 0 Missense_Mutation G 37 C10orf140 SNP 10 G C 21845211 21845211 Broad ZRANB1 54764 broad.mit.edu GRCh37 10 126673350 126673350 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000359653.4:c.1916A>G p.Asn639Ser p.N639S ENST00000359653 NM_017580.2 639 aAt/aGt 0 Missense_Mutation A 4 ZRANB1 SNP 10 A G 126663340 126663340 Broad MOB2 81532 broad.mit.edu GRCh37 11 1491585 1491585 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000329957.6:c.624G>A p.Thr208= p.T208= ENST00000329957 NM_001172223.1 208 acG/acA 0 Silent C 27 MOB2 SNP 11 C T 1448161 1448161 Broad ART1 417 broad.mit.edu GRCh37 11 3680873 3680873 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000250693.1:c.124G>A p.Ala42Thr p.A42T ENST00000250693 NM_004314.2 42 Gcc/Acc 0 Missense_Mutation G 42 ART1 SNP 11 G A 3637449 3637449 Broad OR51E2 81285 broad.mit.edu GRCh37 11 4703227 4703227 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000396950.3:c.715A>G p.Thr239Ala p.T239A ENST00000396950 NM_030774.3 239 Acc/Gcc 0 Missense_Mutation T 60 OR51E2 SNP 11 T C 4659803 4659803 Broad TRIM5 85363 broad.mit.edu GRCh37 11 5700994 5700994 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000380034.3:c.414C>A p.Tyr138Ter p.Y138* ENST00000380034 NM_033034.2 138 taC/taA 0 Nonsense_Mutation G 44 TRIM5 SNP 11 G T 5657570 5657570 Broad ADM 133 broad.mit.edu GRCh37 11 10327544 10327544 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000528655.1:c.147C>A p.Ser49= p.S49= ENST00000528655 49 tcC/tcA 0 Silent C 21 ADM SNP 11 C A 10284120 10284120 Broad TMEM86A 144110 broad.mit.edu GRCh37 11 18723200 18723200 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000280734.2:c.367G>T p.Val123Leu p.V123L ENST00000280734 NM_153347.1 123 Gtg/Ttg 0 Missense_Mutation G 44 TMEM86A SNP 11 G T 18679776 18679776 Broad OR5R1 219479 broad.mit.edu GRCh37 11 56185013 56185013 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000312253.1:c.696G>T p.Gln232His p.Q232H ENST00000312253 NM_001004744.1 232 caG/caT 0 Missense_Mutation C 24 OR5R1 SNP 11 C A 55941589 55941589 Broad TBC1D10C 374403 broad.mit.edu GRCh37 11 67173112 67173112 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000312390.5:c.407G>C p.Gly136Ala p.G136A ENST00000312390 NM_198517.3 136 gGc/gCc 0 Missense_Mutation G 42 TBC1D10C SNP 11 G C 66929688 66929688 Broad TECTA 7007 broad.mit.edu GRCh37 11 121023628 121023628 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000392793.1:c.4144G>A p.Val1382Met p.V1382M ENST00000392793 1382 Gtg/Atg 0 Missense_Mutation G 40 TECTA SNP 11 G A 120528838 120528838 Broad VWA5A 4013 broad.mit.edu GRCh37 11 123989726 123989726 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000456829.2:c.690C>G p.Leu230= p.L230= ENST00000456829 NM_001130142.1 230 ctC/ctG 0 Silent C 30 VWA5A SNP 11 C G 123494936 123494936 Broad CHD4 1108 broad.mit.edu GRCh37 12 6692033 6692033 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000357008.2:c.4217G>T p.Arg1406Leu p.R1406L ENST00000357008 NM_001273.2 1406 cGt/cTt 0 Missense_Mutation C 19 CHD4 SNP 12 C A 6562294 6562294 Broad SLCO1B3 28234 broad.mit.edu GRCh37 12 21032524 21032524 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000381545.3:c.1290C>T p.Cys430= p.C430= ENST00000381545 NM_019844.3 430 tgC/tgT 0 Silent C 27 SLCO1B3 SNP 12 C T 20923791 20923791 Broad SPRYD4 283377 broad.mit.edu GRCh37 12 56863221 56863221 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000338146.5:c.484C>A p.Leu162Met p.L162M ENST00000338146 NM_207344.3 162 Ctg/Atg 0 Missense_Mutation C 28 SPRYD4 SNP 12 C A 55149488 55149488 Broad NACA 4666 broad.mit.edu GRCh37 12 57115174 57115174 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000550952.1:c.140C>A p.Pro47His p.P47H ENST00000550952 47 cCt/cAt 0 Missense_Mutation G 35 NACA SNP 12 G T 55401441 55401441 Broad STARD13 90627 broad.mit.edu GRCh37 13 33703981 33703981 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000336934.5:c.833C>T p.Ser278Phe p.S278F ENST00000336934 NM_178006.3 278 tCt/tTt 0 Missense_Mutation G 33 STARD13 SNP 13 G A 32601981 32601981 Broad FREM2 341640 broad.mit.edu GRCh37 13 39262931 39262931 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000280481.7:c.1450G>A p.Val484Met p.V484M ENST00000280481 NM_207361.4 484 Gtg/Atg 0 Missense_Mutation G 44 FREM2 SNP 13 G A 38160931 38160931 Broad DLEU7 220107 broad.mit.edu GRCh37 13 51417470 51417472 + missense_variant Missense_Mutation TNP GGG GGG TAT novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000400393.3:c.311_313delinsATA p.Pro104His p.P104H ENST00000400393 NM_198989.2 104 cCCCgg/cATAgg 0 Missense_Mutation GGG 39 DLEU7 TNP 13 GGG TAT 50315473 50315471 Broad SNX6 58533 broad.mit.edu GRCh37 14 35050769 35050769 + splice_region_variant,synonymous_variant Splice_Region SNP T T G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000362031.4:c.868A>C p.Arg290= p.R290= ENST00000362031 NM_152233.2 290 Aga/Cga 0 Silent T 56 SNX6 SNP 14 T G 34120520 34120520 Broad ZBTB25 7597 broad.mit.edu GRCh37 14 64954742 64954742 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000608382.1:c.207A>C p.Gln69His p.Q69H ENST00000608382 NM_006977.2 69 caA/caC 0 Missense_Mutation T 60 ZBTB25 SNP 14 T G 64024495 64024495 Broad DYNC1H1 1778 broad.mit.edu GRCh37 14 102461589 102461589 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000360184.4:c.3516T>C p.Tyr1172= p.Y1172= ENST00000360184 NM_001376.4 1172 taT/taC 0 Silent T 51 DYNC1H1 SNP 14 T C 101531342 101531342 Broad CATSPER2 117155 broad.mit.edu GRCh37 15 43940168 43940168 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000321596.5:c.92A>T p.His31Leu p.H31L ENST00000321596 31 cAt/cTt 0 Missense_Mutation T 51 CATSPER2 SNP 15 T A 41727460 41727460 Broad IGDCC3 9543 broad.mit.edu GRCh37 15 65624296 65624296 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000327987.4:c.1131G>A p.Arg377= p.R377= ENST00000327987 NM_004884.3 377 agG/agA 0 Silent C 26 IGDCC3 SNP 15 C T 63411349 63411349 Broad DPP8 54878 broad.mit.edu GRCh37 15 65799595 65799595 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000341861.5:c.406T>C p.Leu136= p.L136= ENST00000341861 NM_197960.2 136 Ttg/Ctg 0 Silent A 1 DPP8 SNP 15 A G 63586648 63586648 Broad SYNM 23336 broad.mit.edu GRCh37 15 99671917 99671917 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000336292.6:c.3349G>C p.Glu1117Gln p.E1117Q ENST00000336292 NM_145728.2 1117 Gag/Cag 0 Missense_Mutation G 41 SYNM SNP 15 G C 97489440 97489440 Broad ELMO3 79767 broad.mit.edu GRCh37 16 67235933 67235933 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000393997.2:c.1263G>T p.Leu421= p.L421= ENST00000393997 NM_024712.3 421 ctG/ctT 0 Silent G 47 ELMO3 SNP 16 G T 65793434 65793434 Broad FUK 197258 broad.mit.edu GRCh37 16 70513276 70513276 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000288078.6:c.3123G>C p.Glu1041Asp p.E1041D ENST00000288078 NM_145059.2 1041 gaG/gaC 0 Missense_Mutation G 35 FUK SNP 16 G C 69070777 69070777 Broad ZCCHC14 23174 broad.mit.edu GRCh37 16 87454225 87454225 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000268616.4:c.527A>G p.Asp176Gly p.D176G ENST00000268616 NM_015144.2 176 gAc/gGc 0 Missense_Mutation T 58 ZCCHC14 SNP 16 T C 86011726 86011726 Broad TP53 7157 broad.mit.edu GRCh37 17 7578177 7578177 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.672G>A p.Glu224= p.E224= ENST00000269305 NM_001126112.2 224 gaG/gaA 0 Silent C 24 TP53 SNP 17 C T 7518902 7518902 Broad ODF4 146852 broad.mit.edu GRCh37 17 8243569 8243569 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000328248.2:c.200C>T p.Pro67Leu p.P67L ENST00000328248 NM_153007.4 67 cCc/cTc 0 Missense_Mutation C 22 ODF4 SNP 17 C T 8184294 8184294 Broad CARD14 79092 broad.mit.edu GRCh37 17 78171963 78171963 + splice_donor_variant Splice_Site SNP T T G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000573882.1:c.1658+2T>G p.X553_splice ENST00000573882 0 Splice_Site_SNP T 57 CARD14 SNP 17 T G 75786558 75786558 Broad NARF 26502 broad.mit.edu GRCh37 17 80439030 80439030 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000309794.11:c.712G>T p.Glu238Ter p.E238* ENST00000309794 NM_031968.2 238 Gaa/Taa 0 Nonsense_Mutation G 41 NARF SNP 17 G T 78032319 78032319 Broad CCDC94 55702 broad.mit.edu GRCh37 19 4251129 4251129 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000262962.7:c.231C>T p.Tyr77= p.Y77= ENST00000262962 NM_018074.4 77 taC/taT 0 Silent C 17 CCDC94 SNP 19 C T 4202129 4202129 Broad PSG4 5672 broad.mit.edu GRCh37 19 43702148 43702148 + splice_donor_variant Splice_Site SNP C C G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000405312.3:c.709+1G>C p.X237_splice ENST00000405312 NM_002780.4 0 Splice_Site_SNP C 19 PSG4 SNP 19 C G 48393988 48393988 Broad RTN2 6253 broad.mit.edu GRCh37 19 45997571 45997571 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000245923.4:c.667C>G p.Arg223Gly p.R223G ENST00000245923 NM_005619.4 223 Cga/Gga 0 Missense_Mutation G 39 RTN2 SNP 19 G C 50689411 50689411 Broad ZNF649 65251 broad.mit.edu GRCh37 19 52393927 52393927 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000354957.3:c.1462G>C p.Val488Leu p.V488L ENST00000354957 NM_023074.3 488 Gta/Cta 0 Missense_Mutation C 18 ZNF649 SNP 19 C G 57085739 57085739 Broad MYO7B 4648 broad.mit.edu GRCh37 2 128380883 128380883 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000428314.1:c.3674A>T p.His1225Leu p.H1225L ENST00000428314 NM_001080527.1 1225 cAc/cTc 0 Missense_Mutation A 6 MYO7B SNP 2 A T 128097353 128097353 Broad ARHGEF4 50649 broad.mit.edu GRCh37 2 131803046 131803046 + intron_variant Intron SNP C C T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000326016.5:c.1921+27C>T *641* ENST00000326016 NM_015320.3 0 Missense_Mutation C 31 ARHGEF4 SNP 2 C T 131519516 131519516 Broad MYO3B 140469 broad.mit.edu GRCh37 2 171243790 171243790 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000408978.4:c.1549G>T p.Glu517Ter p.E517* ENST00000408978 NM_138995.4 517 Gaa/Taa 0 Nonsense_Mutation G 41 MYO3B SNP 2 G T 170952036 170952036 Broad GPR155 151556 broad.mit.edu GRCh37 2 175331291 175331291 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000392552.2:c.1247C>G p.Thr416Ser p.T416S ENST00000392552 NM_152529.6 416 aCt/aGt 0 Missense_Mutation G 36 GPR155 SNP 2 G C 175039537 175039537 Broad TTN 7273 broad.mit.edu GRCh37 2 179604888 179604888 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.13072G>T p.Glu4358Ter p.E4358* ENST00000589042 NM_001267550.1 4358 Gag/Tag 0 Nonsense_Mutation C 29 TTN SNP 2 C A 179313133 179313133 Broad CCDC141 285025 broad.mit.edu GRCh37 2 179732789 179732789 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000420890.2:c.2538C>A p.Ser846= p.S846= ENST00000420890 NM_173648.3 846 tcC/tcA 0 Silent G 35 CCDC141 SNP 2 G T 179441034 179441034 Broad WDR75 84128 broad.mit.edu GRCh37 2 190339474 190339474 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000314761.4:c.2228C>G p.Ser743Cys p.S743C ENST00000314761 NM_032168.1 743 tCt/tGt 0 Missense_Mutation C 32 WDR75 SNP 2 C G 190047719 190047719 Broad SLC40A1 30061 broad.mit.edu GRCh37 2 190430258 190430258 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000261024.2:c.582G>C p.Gln194His p.Q194H ENST00000261024 NM_014585.5 194 caG/caC 0 Missense_Mutation C 32 SLC40A1 SNP 2 C G 190138503 190138503 Broad ABCA12 26154 broad.mit.edu GRCh37 2 215807722 215807722 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000272895.7:c.7363C>G p.Leu2455Val p.L2455V ENST00000272895 NM_173076.2 2455 Ctc/Gtc 0 Missense_Mutation G 33 ABCA12 SNP 2 G C 215515967 215515967 Broad C2orf57 165100 broad.mit.edu GRCh37 2 232457879 232457879 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000313965.2:c.217G>T p.Val73Phe p.V73F ENST00000313965 NM_152614.2 73 Gtt/Ttt 0 Missense_Mutation G 36 C2orf57 SNP 2 G T 232166123 232166123 Broad SAG 6295 broad.mit.edu GRCh37 2 234237227 234237227 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000409110.1:c.616C>A p.Pro206Thr p.P206T ENST00000409110 NM_000541.4 206 Ccc/Acc 0 Missense_Mutation C 26 SAG SNP 2 C A 233901966 233901966 Broad RBM44 375316 broad.mit.edu GRCh37 2 238737961 238737961 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000316997.4:c.2705T>C p.Val902Ala p.V902A ENST00000316997 NM_001080504.2 902 gTt/gCt 0 Missense_Mutation T 60 RBM44 SNP 2 T C 238402700 238402700 Broad TGM2 7052 broad.mit.edu GRCh37 20 36784476 36784476 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000361475.2:c.206A>C p.Gln69Pro p.Q69P ENST00000361475 NM_004613.2 69 cAg/cCg 0 Missense_Mutation T 55 TGM2 SNP 20 T G 36217890 36217890 Broad BAGE4 85317 broad.mit.edu GRCh37 21 11098729 11098729 + non_coding_transcript_exon_variant,non_coding_transcript_variant RNA SNP G G A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000470054.1:n.197C>T *66* ENST00000470054 0 Silent G 39 BAGE4 SNP 21 G A 10120600 10120600 Broad ADAMTS1 9510 broad.mit.edu GRCh37 21 28216721 28216721 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000284984.3:c.553C>G p.Leu185Val p.L185V ENST00000284984 NM_006988.3 185 Ctc/Gtc 0 Missense_Mutation G 35 ADAMTS1 SNP 21 G C 27138592 27138592 Broad TXNRD2 10587 broad.mit.edu GRCh37 22 19906508 19906508 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000400521.1:c.249C>T p.Gly83= p.G83= ENST00000400521 NM_006440.3 83 ggC/ggT 0 Silent G 38 TXNRD2 SNP 22 G A 18286508 18286508 Broad ZNRF3 84133 broad.mit.edu GRCh37 22 29446883 29446883 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000544604.2:c.2714C>A p.Pro905His p.P905H ENST00000544604 NM_001206998.1 905 cCt/cAt 0 Missense_Mutation C 24 ZNRF3 SNP 22 C A 27776883 27776883 Broad CSF2RB 1439 broad.mit.edu GRCh37 22 37332667 37332667 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000403662.3:c.1541G>A p.Trp514Ter p.W514* ENST00000403662 514 tGg/tAg 0 Nonsense_Mutation G 47 CSF2RB SNP 22 G A 35662613 35662613 Broad EIF3L 51386 broad.mit.edu GRCh37 22 38266330 38266330 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000412331.2:c.727C>A p.Gln243Lys p.Q243K ENST00000412331 NM_016091.3 243 Cag/Aag 0 Missense_Mutation C 17 EIF3L SNP 22 C A 36596276 36596276 Broad MOV10L1 54456 broad.mit.edu GRCh37 22 50530527 50530527 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000262794.5:c.195G>T p.Val65= p.V65= ENST00000262794 NM_018995.2 65 gtG/gtT 0 Silent G 45 MOV10L1 SNP 22 G T 48872654 48872654 Broad RFTN1 23180 broad.mit.edu GRCh37 3 16358606 16358606 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000334133.4:c.1466G>T p.Gly489Val p.G489V ENST00000334133 NM_015150.1 489 gGa/gTa 0 Missense_Mutation C 30 RFTN1 SNP 3 C A 16333610 16333610 Broad DHX30 22907 broad.mit.edu GRCh37 3 47882572 47882573 + missense_variant Missense_Mutation DNP AG AG CA novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000445061.1:c.572_573delinsCA p.Glu191Ala p.E191A ENST00000445061 NM_138615.2 191 gAG/gCA 0 Missense_Mutation AG 11 DHX30 DNP 3 AG CA 47857577 47857576 Broad HYAL3 8372 broad.mit.edu GRCh37 3 50332752 50332752 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000336307.1:c.282C>A p.Gly94= p.G94= ENST00000336307 NM_003549.3 94 ggC/ggA 0 Silent G 46 HYAL3 SNP 3 G T 50307756 50307756 Broad DCBLD2 131566 broad.mit.edu GRCh37 3 98531323 98531323 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000326840.6:c.1216T>C p.Phe406Leu p.F406L ENST00000326840 NM_080927.3 406 Ttt/Ctt 0 Missense_Mutation A 4 DCBLD2 SNP 3 A G 100014013 100014013 Broad NIT2 56954 broad.mit.edu GRCh37 3 100071324 100071324 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000394140.4:c.661C>T p.His221Tyr p.H221Y ENST00000394140 NM_020202.4 221 Cac/Tac 0 Missense_Mutation C 17 NIT2 SNP 3 C T 101554014 101554014 Broad NFKBIZ 64332 broad.mit.edu GRCh37 3 101574637 101574637 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000326172.5:c.1715G>A p.Arg572Lys p.R572K ENST00000326172 NM_031419.3 572 aGa/aAa 0 Missense_Mutation G 33 NFKBIZ SNP 3 G A 103057327 103057327 Broad ARHGAP31 57514 broad.mit.edu GRCh37 3 119133697 119133697 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000264245.4:c.2921G>A p.Ser974Asn p.S974N ENST00000264245 NM_020754.2 974 aGc/aAc 0 Missense_Mutation G 34 ARHGAP31 SNP 3 G A 120616387 120616387 Broad PRR23B 389151 broad.mit.edu GRCh37 3 138739309 138739309 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000329447.5:c.195G>C p.Ala65= p.A65= ENST00000329447 NM_001013650.2 65 gcG/gcC 0 Silent C 23 LOC389151 SNP 3 C G 140221999 140221999 Broad MAN2B2 23324 broad.mit.edu GRCh37 4 6598867 6598867 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000285599.3:c.1085A>G p.Tyr362Cys p.Y362C ENST00000285599 NM_015274.1 362 tAc/tGc 0 Missense_Mutation A 14 MAN2B2 SNP 4 A G 6649768 6649768 Broad SPCS3 60559 broad.mit.edu GRCh37 4 177241325 177241325 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000503362.1:c.98A>T p.Lys33Ile p.K33I ENST00000503362 NM_021928.3 33 aAa/aTa 0 Missense_Mutation A 1 SPCS3 SNP 4 A T 177478319 177478319 Broad EGR1 1958 broad.mit.edu GRCh37 5 137803588 137803588 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000239938.4:c.1450T>G p.Ser484Ala p.S484A ENST00000239938 NM_001964.2 484 Tcc/Gcc 0 Missense_Mutation T 50 EGR1 SNP 5 T G 137831487 137831487 Broad PCDHA9 9752 broad.mit.edu GRCh37 5 140229728 140229728 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000532602.1:c.1648A>T p.Thr550Ser p.T550S ENST00000532602 NM_031857.1 550 Acg/Tcg 0 Missense_Mutation A 10 PCDHA9 SNP 5 A T 140209912 140209912 Broad GCM2 9247 broad.mit.edu GRCh37 6 10874450 10874450 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000379491.4:c.1299G>A p.Pro433= p.P433= ENST00000379491 NM_004752.3 433 ccG/ccA 0 Silent C 23 GCM2 SNP 6 C T 10982436 10982436 Broad HFE 3077 broad.mit.edu GRCh37 6 26091606 26091606 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000357618.5:c.405C>A p.Tyr135Ter p.Y135* ENST00000357618 NM_000410.3 135 taC/taA 0 Nonsense_Mutation C 20 HFE SNP 6 C A 26199585 26199585 Broad GNL1 2794 broad.mit.edu GRCh37 6 30514931 30514931 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000376621.3:c.1399C>T p.Pro467Ser p.P467S ENST00000376621 NM_005275.3 467 Ccc/Tcc 0 Missense_Mutation G 43 GNL1 SNP 6 G A 30622910 30622910 Broad PTCHD4 442213 broad.mit.edu GRCh37 6 47976544 47976544 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000339488.4:c.733C>G p.Leu245Val p.L245V ENST00000339488 NM_001013732.3 245 Ctg/Gtg 0 Missense_Mutation G 35 C6orf138 SNP 6 G C 48084503 48084503 Broad TCF21 6943 broad.mit.edu GRCh37 6 134210774 134210774 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000367882.4:c.239A>C p.Gln80Pro p.Q80P ENST00000367882 NM_003206.3 80 cAg/cCg 0 Missense_Mutation A 7 TCF21 SNP 6 A C 134252467 134252467 Broad FOXK1 221937 broad.mit.edu GRCh37 7 4800797 4800797 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000328914.4:c.1799C>G p.Thr600Arg p.T600R ENST00000328914 NM_001037165.1 600 aCg/aGg 0 Missense_Mutation C 19 FOXK1 SNP 7 C G 4767323 4767323 Broad MOGAT3 346606 broad.mit.edu GRCh37 7 100844038 100844038 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000223114.4:c.98T>A p.Phe33Tyr p.F33Y ENST00000223114 NM_178176.2 33 tTc/tAc 0 Missense_Mutation A 9 MOGAT3 SNP 7 A T 100630758 100630758 Broad FAM131B 9715 broad.mit.edu GRCh37 7 143056027 143056027 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000443739.2:c.359G>A p.Gly120Glu p.G120E ENST00000443739 NM_001031690.2 120 gGg/gAg 0 Missense_Mutation C 22 FAM131B SNP 7 C T 142766149 142766149 Broad USP17L2 377630 broad.mit.edu GRCh37 8 11995276 11995276 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000333796.3:c.994G>A p.Asp332Asn p.D332N ENST00000333796 NM_201402.2 332 Gac/Aac 0 Missense_Mutation C 31 USP17L2 SNP 8 C T 12032685 12032685 Broad WRN 7486 broad.mit.edu GRCh37 8 30924675 30924675 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000298139.5:c.631C>G p.Leu211Val p.L211V ENST00000298139 NM_000553.4 211 Ctg/Gtg 0 Missense_Mutation C 20 WRN SNP 8 C G 31044217 31044217 Broad ADAM18 8749 broad.mit.edu GRCh37 8 39502937 39502937 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000265707.5:c.990T>C p.Asp330= p.D330= ENST00000265707 NM_014237.2 330 gaT/gaC 0 Silent T 51 ADAM18 SNP 8 T C 39622094 39622094 Broad TMEM70 54968 broad.mit.edu GRCh37 8 74888635 74888635 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000312184.5:c.119C>A p.Ser40Tyr p.S40Y ENST00000312184 NM_001040613.2 40 tCc/tAc 0 Missense_Mutation C 30 TMEM70 SNP 8 C A 75051189 75051189 Broad ANKRD20A2 441430 broad.mit.edu GRCh37 9 42368519 42368519 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000377601.2:c.105G>T p.Gln35His p.Q35H ENST00000377601 NM_001012421.1 35 caG/caT 0 Missense_Mutation G 33 ANKRD20A2 SNP 9 G T 42358515 42358515 Broad RABGAP1 23637 broad.mit.edu GRCh37 9 125746913 125746913 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000373647.4:c.300C>G p.Leu100= p.L100= ENST00000373647 NM_012197.3 100 ctC/ctG 0 Silent C 32 RABGAP1 SNP 9 C G 124786734 124786734 Broad ADAMTS13 11093 broad.mit.edu GRCh37 9 136319629 136319629 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000371929.3:c.3137A>T p.Gln1046Leu p.Q1046L ENST00000371929 NM_139025.4 1046 cAg/cTg 0 Missense_Mutation A 7 ADAMTS13 SNP 9 A T 135309450 135309450 Broad BMX 660 broad.mit.edu GRCh37 X 15548148 15548148 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000357607.2:c.937A>C p.Lys313Gln p.K313Q ENST00000357607 313 Aag/Cag 0 Missense_Mutation A 1 BMX SNP 23 A C 15458069 15458069 Broad SUPT20HL1 broad.mit.edu GRCh37 X 24382764 24382764 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000436466.1:n.1887T>C *629* ENST00000436466 0 Silent T 55 FAM48B1 SNP 23 T C 24292685 24292685 Broad POLA1 5422 broad.mit.edu GRCh37 X 24745898 24745898 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000379059.3:c.1514-1G>C p.X505_splice ENST00000379059 NM_016937.3 0 Splice_Site_SNP G 33 POLA1 SNP 23 G C 24655819 24655819 Broad PAK3 5063 broad.mit.edu GRCh37 X 110391037 110391037 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000360648.4:c.457C>T p.Gln153Ter p.Q153* ENST00000360648 NM_001128168.1 153 Caa/Taa 0 Nonsense_Mutation C 17 PAK3 SNP 23 C T 110277693 110277693 Broad GPR50 9248 broad.mit.edu GRCh37 X 150348554 150348554 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown x x x ENST00000218316.3:c.499G>T p.Gly167Cys p.G167C ENST00000218316 NM_004224.3 167 Ggc/Tgc 0 Missense_Mutation G 47 GPR50 SNP 23 G T 150099212 150099212 Broad DMKN 93099 broad.mit.edu GRCh37 19 36002362 36002412 + inframe_deletion In_Frame_Del DEL CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG - novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000339686.3:c.819_869del p.Ser274_Ser290del p.S274_S290del ENST00000339686 NM_033317.4 273 agCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGt/agt 0 In_Frame_Del CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG 20 DMKN DEL 19 - CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG 40694252 40694202 Broad SLC35G2 80723 broad.mit.edu GRCh37 3 136573502 136573516 + inframe_deletion In_Frame_Del DEL CTTTCTTTGGAACCA CTTTCTTTGGAACCA - novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000446465.2:c.200_214del p.Ala67_Met72delinsVal p.A67_M72delinsV ENST00000446465 NM_025246.2 67 gCTTTCTTTGGAACCAtg/gtg 0 In_Frame_Del CTTTCTTTGGAACCA 28 TMEM22 DEL 3 - CTTTCTTTGGAACCA 138056206 138056192 Broad GPR20 2843 broad.mit.edu GRCh37 8 142367256 142367257 + frameshift_variant Frame_Shift_Del DEL GG GG - novel Unknown TCGA-25-2042-01 TCGA-25-2042-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000377741.3:c.767_768del p.Pro256LeufsTer63 p.P256Lfs*63 ENST00000377741 NM_005293.2 256 cCC/c 0 Frame_Shift_Del GG 35 GPR20 DEL 8 - GG 142436439 142436438 Broad NADK 65220 broad.mit.edu GRCh37 1 1686116 1686116 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000344463.4:c.1145G>A p.Arg382Gln p.R382Q ENST00000344463 382 cGg/cAg 0 Missense_Mutation C 23 NADK SNP 1 C T 1675976 1675976 Broad SLC45A1 50651 broad.mit.edu GRCh37 1 8399602 8399602 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000471889.1:c.1824C>T p.Phe608= p.F608= ENST00000471889 608 ttC/ttT 0 Silent C 29 SLC45A1 SNP 1 C T 8322189 8322189 Broad RCC1 1104 broad.mit.edu GRCh37 1 28863288 28863288 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000373831.3:c.1060T>G p.Tyr354Asp p.Y354D ENST00000373831 NM_001048194.2 354 Tat/Gat 0 Missense_Mutation T 57 SNHG3-RCC1 SNP 1 T G 28735875 28735875 Broad GADD45A 1647 broad.mit.edu GRCh37 1 68152185 68152185 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000370986.4:c.299A>G p.Glu100Gly p.E100G ENST00000370986 NM_001924.3 100 gAg/gGg 0 Missense_Mutation A 11 GADD45A SNP 1 A G 67924773 67924773 Broad FMO5 2330 broad.mit.edu GRCh37 1 146673058 146673058 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000254090.4:c.859G>A p.Asp287Asn p.D287N ENST00000254090 NM_001461.3 287 Gat/Aat 0 Missense_Mutation C 29 FMO5 SNP 1 C T 145139682 145139682 Broad BNIPL 149428 broad.mit.edu GRCh37 1 151011022 151011022 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000368931.3:c.180C>A p.Asp60Glu p.D60E ENST00000368931 NM_138278.3 60 gaC/gaA 0 Missense_Mutation C 18 BNIPL SNP 1 C A 149277646 149277646 Broad FLG 2312 broad.mit.edu GRCh37 1 152285796 152285796 + synonymous_variant Silent SNP T T G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000368799.1:c.1566A>C p.Ser522= p.S522= ENST00000368799 NM_002016.1 522 tcA/tcC 0 Silent T 63 FLG SNP 1 T G 150552420 150552420 Broad BCAN 63827 broad.mit.edu GRCh37 1 156628876 156628876 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000329117.5:c.2686C>A p.Arg896Ser p.R896S ENST00000329117 NM_021948.4 896 Cgc/Agc 0 Missense_Mutation C 19 BCAN SNP 1 C A 154895500 154895500 Broad CDH23 64072 broad.mit.edu GRCh37 10 73464679 73464679 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000224721.6:c.2760C>T p.Ile920= p.I920= ENST00000224721 NM_022124.5 920 atC/atT 0 Silent C 31 CDH23 SNP 10 C T 73134685 73134685 Broad SPOCK2 9806 broad.mit.edu GRCh37 10 73826811 73826811 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000373109.2:c.777C>T p.Thr259= p.T259= ENST00000373109 NM_001244950.1 259 acC/acT 0 Silent G 47 SPOCK2 SNP 10 G A 73496817 73496817 Broad LGI1 9211 broad.mit.edu GRCh37 10 95552607 95552607 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000371418.4:c.611C>G p.Pro204Arg p.P204R ENST00000371418 NM_005097.2 204 cCa/cGa 0 Missense_Mutation C 21 LGI1 SNP 10 C G 95542597 95542597 Broad SBF2 81846 broad.mit.edu GRCh37 11 9878254 9878254 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000256190.8:c.2114A>T p.Asp705Val p.D705V ENST00000256190 NM_030962.3 705 gAt/gTt 0 Missense_Mutation T 50 SBF2 SNP 11 T A 9834830 9834830 Broad NRXN2 9379 broad.mit.edu GRCh37 11 64428376 64428376 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000265459.6:c.2034G>A p.Gly678= p.G678= ENST00000265459 NM_015080.3 678 ggG/ggA 0 Silent C 22 NRXN2 SNP 11 C T 64184952 64184952 Broad CPT1A 1374 broad.mit.edu GRCh37 11 68552333 68552333 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000265641.5:c.1113G>A p.Ser371= p.S371= ENST00000265641 NM_001876.3 371 tcG/tcA 0 Silent C 23 CPT1A SNP 11 C T 68308909 68308909 Broad GRAMD1B 57476 broad.mit.edu GRCh37 11 123474134 123474134 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000529750.1:c.622C>T p.Pro208Ser p.P208S ENST00000529750 NM_020716.1 208 Cct/Tct 0 Missense_Mutation C 26 GRAMD1B SNP 11 C T 122979344 122979344 Broad R3HDM2 22864 broad.mit.edu GRCh37 12 57648692 57648692 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000347140.3:c.2795T>G p.Ile932Ser p.I932S ENST00000347140 932 aTt/aGt 0 Missense_Mutation A 4 R3HDM2 SNP 12 A C 55934959 55934959 Broad NT5DC3 51559 broad.mit.edu GRCh37 12 104171699 104171699 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000392876.3:c.1555C>G p.Arg519Gly p.R519G ENST00000392876 NM_001031701.2 519 Cgg/Ggg 0 Missense_Mutation G 39 NT5DC3 SNP 12 G C 102695829 102695829 Broad RCBTB2 1102 broad.mit.edu GRCh37 13 49077028 49077028 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000344532.3:c.949C>T p.His317Tyr p.H317Y ENST00000344532 NM_001268.2 317 Cac/Tac 0 Missense_Mutation G 45 RCBTB2 SNP 13 G A 47975029 47975029 Broad FBXO34 55030 broad.mit.edu GRCh37 14 55818057 55818057 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000313833.4:c.949C>A p.Leu317Ile p.L317I ENST00000313833 NM_017943.3 317 Ctt/Att 0 Missense_Mutation C 28 FBXO34 SNP 14 C A 54887810 54887810 Broad SPTB 6710 broad.mit.edu GRCh37 14 65263353 65263353 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000389722.3:c.1263G>T p.Glu421Asp p.E421D ENST00000389722 NM_001024858.2 421 gaG/gaT 0 Missense_Mutation C 28 SPTB SNP 14 C A 64333106 64333106 Broad YLPM1 56252 broad.mit.edu GRCh37 14 75265812 75265812 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000325680.7:c.3812A>T p.Asp1271Val p.D1271V ENST00000325680 NM_019589.2 1271 gAc/gTc 0 Missense_Mutation A 10 YLPM1 SNP 14 A T 74335565 74335565 Broad RCOR1 23186 broad.mit.edu GRCh37 14 103167617 103167617 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000262241.6:c.448G>C p.Asp150His p.D150H ENST00000262241 NM_015156.3 150 Gat/Cat 0 Missense_Mutation G 41 RCOR1 SNP 14 G C 102237370 102237370 Broad MYZAP 100820829 broad.mit.edu GRCh37 15 57925928 57925928 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000267853.5:c.922C>T p.Arg308Cys p.R308C ENST00000267853 308 Cgc/Tgc 0 Missense_Mutation C 27 GCOM1 SNP 15 C T 55713220 55713220 Broad ISLR2 57611 broad.mit.edu GRCh37 15 74426774 74426774 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000361742.3:c.1679C>G p.Pro560Arg p.P560R ENST00000361742 NM_001130136.1 560 cCg/cGg 0 Missense_Mutation C 23 ISLR2 SNP 15 C G 72213827 72213827 Broad SYNM 23336 broad.mit.edu GRCh37 15 99672085 99672085 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000336292.6:c.3517G>T p.Val1173Phe p.V1173F ENST00000336292 NM_145728.2 1173 Gtc/Ttc 0 Missense_Mutation G 48 SYNM SNP 15 G T 97489608 97489608 Broad IFT140 9742 broad.mit.edu GRCh37 16 1634421 1634421 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000426508.2:c.1156T>G p.Trp386Gly p.W386G ENST00000426508 NM_014714.3 386 Tgg/Ggg 0 Missense_Mutation A 6 IFT140 SNP 16 A C 1574422 1574422 Broad ANKS4B 257629 broad.mit.edu GRCh37 16 21261783 21261783 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000311620.5:c.896C>G p.Pro299Arg p.P299R ENST00000311620 NM_145865.2 299 cCc/cGc 0 Missense_Mutation C 22 ANKS4B SNP 16 C G 21169284 21169284 Broad HS3ST4 9951 broad.mit.edu GRCh37 16 25704390 25704390 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000331351.5:c.652C>G p.Arg218Gly p.R218G ENST00000331351 NM_006040.2 218 Cgc/Ggc 0 Missense_Mutation C 23 HS3ST4 SNP 16 C G 25611891 25611891 Broad TP53 7157 broad.mit.edu GRCh37 17 7577141 7577141 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.797G>T p.Gly266Val p.G266V ENST00000269305 NM_001126112.2 266 gGa/gTa 0 Missense_Mutation C 30 TP53 SNP 17 C A 7517866 7517866 Broad RAI1 10743 broad.mit.edu GRCh37 17 17700514 17700514 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000353383.1:c.4252C>G p.Leu1418Val p.L1418V ENST00000353383 NM_030665.3 1418 Ctg/Gtg 0 Missense_Mutation C 20 RAI1 SNP 17 C G 17641239 17641239 Broad VTN 7448 broad.mit.edu GRCh37 17 26695999 26695999 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000226218.4:c.720C>G p.Pro240= p.P240= ENST00000226218 NM_000638.3 240 ccC/ccG 0 Silent G 43 VTN SNP 17 G C 23720126 23720126 Broad IKZF3 22806 broad.mit.edu GRCh37 17 37922082 37922082 + synonymous_variant Silent SNP A A G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000346872.3:c.1491T>C p.Ser497= p.S497= ENST00000346872 NM_012481.4 497 tcT/tcC 0 Silent A 11 IKZF3 SNP 17 A G 35175608 35175608 Broad STAT5A 6776 broad.mit.edu GRCh37 17 40459648 40459648 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000345506.4:c.1813G>A p.Asp605Asn p.D605N ENST00000345506 NM_003152.3 605 Gac/Aac 0 Missense_Mutation G 37 STAT5A SNP 17 G A 37713174 37713174 Broad ITGB4 3691 broad.mit.edu GRCh37 17 73723818 73723818 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000200181.3:c.351T>C p.His117= p.H117= ENST00000200181 NM_000213.3 117 caT/caC 0 Silent T 52 ITGB4 SNP 17 T C 71235413 71235413 Broad QRICH2 84074 broad.mit.edu GRCh37 17 74289761 74289762 + missense_variant Missense_Mutation DNP GG GG AA novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000262765.5:c.548_549delinsTT p.Thr183Ile p.T183I ENST00000262765 NM_032134.1 183 aCC/aTT 0 Missense_Mutation GG 35 QRICH2 DNP 17 GG AA 71801357 71801356 Broad SPHK1 8877 broad.mit.edu GRCh37 17 74382981 74382981 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000323374.4:c.727A>G p.Thr243Ala p.T243A ENST00000323374 NM_182965.2 243 Acg/Gcg 0 Missense_Mutation A 6 SPHK1 SNP 17 A G 71894576 71894576 Broad AFG3L2 10939 broad.mit.edu GRCh37 18 12329615 12329615 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000269143.3:c.2343G>A p.Lys781= p.K781= ENST00000269143 NM_006796.2 781 aaG/aaA 0 Silent C 24 AFG3L2 SNP 18 C T 12319615 12319615 Broad MYO5B 4645 broad.mit.edu GRCh37 18 47421484 47421484 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000285039.7:c.2872G>A p.Glu958Lys p.E958K ENST00000285039 NM_001080467.2 958 Gag/Aag 0 Missense_Mutation C 30 MYO5B SNP 18 C T 45675482 45675482 Broad SERPINB3 6317 broad.mit.edu GRCh37 18 61326648 61326648 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000283752.5:c.336G>A p.Thr112= p.T112= ENST00000283752 NM_006919.2 112 acG/acA 0 Silent C 19 SERPINB3 SNP 18 C T 59477628 59477628 Broad KCNN1 3780 broad.mit.edu GRCh37 19 18092529 18092529 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000222249.9:c.510G>T p.Val170= p.V170= ENST00000222249 NM_002248.4 170 gtG/gtT 0 Silent G 47 KCNN1 SNP 19 G T 17953529 17953529 Broad GSK3A 2931 broad.mit.edu GRCh37 19 42734952 42734952 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000222330.3:c.1446C>T p.Ser482= p.S482= ENST00000222330 NM_019884.2 482 tcC/tcT 0 Silent G 35 GSK3A SNP 19 G A 47426792 47426792 Broad CEACAM1 634 broad.mit.edu GRCh37 19 43026338 43026338 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000161559.6:c.441C>T p.Pro147= p.P147= ENST00000161559 NM_001712.4 147 ccC/ccT 0 Silent G 35 CEACAM1 SNP 19 G A 47718178 47718178 Broad PSG11 5680 broad.mit.edu GRCh37 19 43523159 43523159 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000401740.1:c.472C>G p.Pro158Ala p.P158A ENST00000401740 158 Ccc/Gcc 0 Missense_Mutation G 43 PSG11 SNP 19 G C 48214999 48214999 Broad CBLC 23624 broad.mit.edu GRCh37 19 45284251 45284252 + missense_variant Missense_Mutation DNP TG TG GA novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000270279.3:c.443_444delinsGA p.Met148Arg p.M148R ENST00000270279 NM_012116.3 148 aTG/aGA 0 Missense_Mutation TG 51 CBLC DNP 19 TG GA 49976092 49976091 Broad SLC27A5 10998 broad.mit.edu GRCh37 19 59009969 59009969 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000263093.2:c.1986G>T p.Leu662= p.L662= ENST00000263093 NM_012254.2 662 ctG/ctT 0 Silent C 17 SLC27A5 SNP 19 C A 63701781 63701781 Broad TMEM131 23505 broad.mit.edu GRCh37 2 98409324 98409324 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000186436.5:c.3669T>G p.Ser1223Arg p.S1223R ENST00000186436 NM_015348.1 1223 agT/agG 0 Missense_Mutation A 10 TMEM131 SNP 2 A C 97775756 97775756 Broad MYO3B 140469 broad.mit.edu GRCh37 2 171260805 171260805 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000408978.4:c.2326G>C p.Asp776His p.D776H ENST00000408978 NM_138995.4 776 Gac/Cac 0 Missense_Mutation G 41 MYO3B SNP 2 G C 170969051 170969051 Broad PDXK 8566 broad.mit.edu GRCh37 21 45175862 45175862 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000291565.4:c.857C>G p.Pro286Arg p.P286R ENST00000291565 NM_003681.4 286 cCc/cGc 0 Missense_Mutation C 22 PDXK SNP 21 C G 44000290 44000290 Broad MCM3AP 8888 broad.mit.edu GRCh37 21 47676785 47676785 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000397708.1:c.3850G>A p.Glu1284Lys p.E1284K ENST00000397708 1284 Gag/Aag 0 Missense_Mutation C 32 MCM3AP SNP 21 C T 46501213 46501213 Broad CCT8L2 150160 broad.mit.edu GRCh37 22 17072656 17072656 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000359963.3:c.785C>G p.Ser262Cys p.S262C ENST00000359963 NM_014406.4 262 tCt/tGt 0 Missense_Mutation G 33 CCT8L2 SNP 22 G C 15452656 15452656 Broad ZNF280B 140883 broad.mit.edu GRCh37 22 22842614 22842614 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000360412.2:c.1110G>A p.Glu370= p.E370= ENST00000360412 NM_080764.2 370 gaG/gaA 0 Silent C 28 ZNF280B SNP 22 C T 21172614 21172614 Broad GAS2L1 10634 broad.mit.edu GRCh37 22 29707931 29707931 + 3_prime_UTR_variant 3'UTR SNP C C G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000341313.6:c.*939C>G *313* ENST00000341313 0 Missense_Mutation C 21 GAS2L1 SNP 22 C G 28037931 28037931 Broad NR1D2 9975 broad.mit.edu GRCh37 3 24018833 24018833 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000312521.4:c.1663C>A p.Leu555Ile p.L555I ENST00000312521 NM_005126.4 555 Ctt/Att 0 Missense_Mutation C 28 NR1D2 SNP 3 C A 23993837 23993837 Broad MAGI1 9223 broad.mit.edu GRCh37 3 65342471 65342471 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000402939.2:c.3971A>T p.Glu1324Val p.E1324V ENST00000402939 NM_001033057.1 1324 gAg/gTg 0 Missense_Mutation T 54 MAGI1 SNP 3 T A 65317511 65317511 Broad MYH15 22989 broad.mit.edu GRCh37 3 108117551 108117551 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000273353.3:c.5126G>A p.Arg1709His p.R1709H ENST00000273353 NM_014981.1 1709 cGt/cAt 0 Missense_Mutation C 19 MYH15 SNP 3 C T 109600241 109600241 Broad ALDH1L1 10840 broad.mit.edu GRCh37 3 125843212 125843212 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000273450.3:c.1913G>A p.Gly638Glu p.G638E ENST00000273450 NM_001270364.1 638 gGa/gAa 0 Missense_Mutation C 30 ALDH1L1 SNP 3 C T 127325902 127325902 Broad PLCH1 23007 broad.mit.edu GRCh37 3 155200160 155200160 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000340059.7:c.3679T>C p.Cys1227Arg p.C1227R ENST00000340059 NM_001130960.1 1227 Tgt/Cgt 0 Missense_Mutation A 5 PLCH1 SNP 3 A G 156682854 156682854 Broad SLITRK3 22865 broad.mit.edu GRCh37 3 164905717 164905717 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000475390.1:c.2902G>T p.Glu968Ter p.E968* ENST00000475390 968 Gaa/Taa 0 Nonsense_Mutation C 31 SLITRK3 SNP 3 C A 166388411 166388411 Broad ETV5 2119 broad.mit.edu GRCh37 3 185823281 185823281 + synonymous_variant Silent SNP T T A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000306376.5:c.138A>T p.Leu46= p.L46= ENST00000306376 NM_004454.2 46 ctA/ctT 0 Silent T 49 ETV5 SNP 3 T A 187305975 187305975 Broad BOD1L1 259282 broad.mit.edu GRCh37 4 13604894 13604894 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000040738.5:c.3630A>T p.Gln1210His p.Q1210H ENST00000040738 NM_148894.2 1210 caA/caT 0 Missense_Mutation T 64 BOD1L SNP 4 T A 13213992 13213992 Broad CD38 952 broad.mit.edu GRCh37 4 15835888 15835888 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000226279.3:c.548A>T p.Asn183Ile p.N183I ENST00000226279 NM_001775.2 183 aAc/aTc 0 Missense_Mutation A 2 CD38 SNP 4 A T 15444986 15444986 Broad BMP3 651 broad.mit.edu GRCh37 4 81967139 81967139 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000282701.2:c.564C>T p.Ala188= p.A188= ENST00000282701 NM_001201.2 188 gcC/gcT 0 Silent C 21 BMP3 SNP 4 C T 82186163 82186163 Broad LARP7 51574 broad.mit.edu GRCh37 4 113568614 113568614 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000509061.1:c.927T>A p.Asp309Glu p.D309E ENST00000509061 NM_001267039.1 309 gaT/gaA 0 Missense_Mutation T 51 LARP7 SNP 4 T A 113788063 113788063 Broad ANK2 287 broad.mit.edu GRCh37 4 114161671 114161671 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000357077.4:c.724C>T p.His242Tyr p.H242Y ENST00000357077 NM_001148.4 242 Cat/Tat 0 Missense_Mutation C 17 ANK2 SNP 4 C T 114381120 114381120 Broad ANK2 287 broad.mit.edu GRCh37 4 114195729 114195729 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000357077.4:c.1607T>G p.Ile536Ser p.I536S ENST00000357077 NM_001148.4 536 aTc/aGc 0 Missense_Mutation T 50 ANK2 SNP 4 T G 114415178 114415178 Broad TLL1 7092 broad.mit.edu GRCh37 4 166924625 166924625 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000061240.2:c.715G>T p.Val239Phe p.V239F ENST00000061240 NM_012464.4 239 Gtt/Ttt 0 Missense_Mutation G 48 TLL1 SNP 4 G T 167144075 167144075 Broad ARHGEF28 64283 broad.mit.edu GRCh37 5 73187940 73187940 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000545377.1:c.3451A>G p.Arg1151Gly p.R1151G ENST00000545377 NM_001080479.2 1151 Aga/Gga 0 Missense_Mutation A 11 RGNEF SNP 5 A G 73223696 73223696 Broad ZNF608 57507 broad.mit.edu GRCh37 5 123984816 123984816 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000306315.5:c.1261T>A p.Ser421Thr p.S421T ENST00000306315 NM_020747.2 421 Tca/Aca 0 Missense_Mutation A 10 ZNF608 SNP 5 A T 124012715 124012715 Broad FSTL4 23105 broad.mit.edu GRCh37 5 132736454 132736454 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000265342.7:c.385C>T p.His129Tyr p.H129Y ENST00000265342 NM_015082.1 129 Cac/Tac 0 Missense_Mutation G 47 FSTL4 SNP 5 G A 132764353 132764353 Broad CATSPER3 347732 broad.mit.edu GRCh37 5 134305677 134305677 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000282611.6:c.147C>G p.Ser49Arg p.S49R ENST00000282611 NM_178019.2 49 agC/agG 0 Missense_Mutation C 26 CATSPER3 SNP 5 C G 134333576 134333576 Broad PURA 5813 broad.mit.edu GRCh37 5 139494241 139494241 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000331327.3:c.475C>T p.Leu159Phe p.L159F ENST00000331327 NM_005859.4 159 Ctc/Ttc 0 Missense_Mutation C 32 PURA SNP 5 C T 139474425 139474425 Broad PCDHA10 56139 broad.mit.edu GRCh37 5 140236983 140236983 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000307360.5:c.1350C>G p.Asn450Lys p.N450K ENST00000307360 NM_018901.2 450 aaC/aaG 0 Missense_Mutation C 19 PCDHA10 SNP 5 C G 140217167 140217167 Broad CAMK2A 815 broad.mit.edu GRCh37 5 149629831 149629831 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000398376.3:c.858C>T p.Thr286= p.T286= ENST00000398376 286 acC/acT 0 Silent G 39 CAMK2A SNP 5 G A 149610024 149610024 Broad GABBR1 2550 broad.mit.edu GRCh37 6 29589553 29589553 + synonymous_variant Silent SNP A A G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000377034.4:c.1107T>C p.Thr369= p.T369= ENST00000377034 NM_001470.2 369 acT/acC 0 Silent A 7 GABBR1 SNP 6 A G 29697532 29697532 Broad NOTCH4 4855 broad.mit.edu GRCh37 6 32189051 32189051 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000375023.3:c.503G>A p.Gly168Glu p.G168E ENST00000375023 NM_004557.3 168 gGa/gAa 0 Missense_Mutation C 30 NOTCH4 SNP 6 C T 32297029 32297029 Broad AARS2 57505 broad.mit.edu GRCh37 6 44271068 44271068 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000244571.4:c.2100C>T p.Pro700= p.P700= ENST00000244571 NM_020745.3 700 ccC/ccT 0 Silent G 43 AARS2 SNP 6 G A 44379046 44379046 Broad ROS1 6098 broad.mit.edu GRCh37 6 117674279 117674279 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000368508.3:c.4195A>G p.Ile1399Val p.I1399V ENST00000368508 NM_002944.2 1399 Atc/Gtc 0 Missense_Mutation T 51 ROS1 SNP 6 T C 117780972 117780972 Broad AKAP7 9465 broad.mit.edu GRCh37 6 131490397 131490397 + synonymous_variant Silent SNP A A T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000431975.2:c.573A>T p.Ser191= p.S191= ENST00000431975 NM_016377.3 191 tcA/tcT 0 Silent A 6 AKAP7 SNP 6 A T 131532090 131532090 Broad SHPRH 257218 broad.mit.edu GRCh37 6 146256292 146256292 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000367505.2:c.2741T>G p.Ile914Arg p.I914R ENST00000367505 914 aTa/aGa 0 Missense_Mutation A 16 SHPRH SNP 6 A C 146297985 146297985 Broad SYNE1 23345 broad.mit.edu GRCh37 6 152522993 152522993 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000367255.5:c.23111A>G p.His7704Arg p.H7704R ENST00000367255 NM_182961.3 7704 cAt/cGt 0 Missense_Mutation T 51 SYNE1 SNP 6 T C 152564686 152564686 Broad SP4 6671 broad.mit.edu GRCh37 7 21521627 21521627 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000222584.3:c.1993C>T p.Arg665Ter p.R665* ENST00000222584 NM_003112.3 665 Cga/Tga 0 Nonsense_Mutation C 19 SP4 SNP 7 C T 21488152 21488152 Broad HOXA1 3198 broad.mit.edu GRCh37 7 27135280 27135280 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000343060.4:c.252G>T p.Gly84= p.G84= ENST00000343060 NM_005522.4 84 ggG/ggT 0 Silent C 30 HOXA1 SNP 7 C A 27101805 27101805 Broad HECW1 23072 broad.mit.edu GRCh37 7 43581522 43581522 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000395891.2:c.4173G>A p.Leu1391= p.L1391= ENST00000395891 NM_015052.3 1391 ttG/ttA 0 Silent G 46 HECW1 SNP 7 G A 43548047 43548047 Broad EPHB4 2050 broad.mit.edu GRCh37 7 100421431 100421431 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000358173.3:c.246C>A p.Gly82= p.G82= ENST00000358173 NM_004444.4 82 ggC/ggA 0 Silent G 38 EPHB4 SNP 7 G T 100259367 100259367 Broad CADPS2 93664 broad.mit.edu GRCh37 7 122056211 122056211 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000449022.2:c.2484G>T p.Met828Ile p.M828I ENST00000449022 NM_017954.10 828 atG/atT 0 Missense_Mutation C 29 CADPS2 SNP 7 C A 121843447 121843447 Broad SPAM1 6677 broad.mit.edu GRCh37 7 123594492 123594492 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000340011.5:c.868A>G p.Lys290Glu p.K290E ENST00000340011 NM_003117.4 290 Aaa/Gaa 0 Missense_Mutation A 5 SPAM1 SNP 7 A G 123381728 123381728 Broad DOCK5 80005 broad.mit.edu GRCh37 8 25101189 25101189 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000276440.7:c.44-1G>A p.X15_splice ENST00000276440 NM_024940.6 0 Splice_Site_SNP G 34 DOCK5 SNP 8 G A 25157106 25157106 Broad TG 7038 broad.mit.edu GRCh37 8 133935586 133935586 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000220616.4:c.4532T>C p.Val1511Ala p.V1511A ENST00000220616 NM_003235.4 1511 gTc/gCc 0 Missense_Mutation T 58 TG SNP 8 T C 134004768 134004768 Broad PTAR1 375743 broad.mit.edu GRCh37 9 72333391 72333391 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000340434.4:c.1076C>G p.Thr359Arg p.T359R ENST00000340434 NM_001099666.1 359 aCg/aGg 0 Missense_Mutation G 40 PTAR1 SNP 9 G C 71523211 71523211 Broad OR13F1 138805 broad.mit.edu GRCh37 9 107267333 107267333 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000334726.2:c.790G>A p.Ala264Thr p.A264T ENST00000334726 NM_001004485.1 264 Gct/Act 0 Missense_Mutation G 38 OR13F1 SNP 9 G A 106307154 106307154 Broad COL27A1 85301 broad.mit.edu GRCh37 9 116973264 116973264 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000356083.3:c.2325C>T p.Gly775= p.G775= ENST00000356083 NM_032888.2 775 ggC/ggT 0 Silent C 26 COL27A1 SNP 9 C T 116013085 116013085 Broad DEC1 50514 broad.mit.edu GRCh37 9 118163578 118163578 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000374016.1:c.194C>A p.Ala65Glu p.A65E ENST00000374016 NM_017418.2 65 gCa/gAa 0 Missense_Mutation C 25 DEC1 SNP 9 C A 117203399 117203399 Broad OR1L8 138881 broad.mit.edu GRCh37 9 125330329 125330329 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000304865.2:c.428T>C p.Val143Ala p.V143A ENST00000304865 NM_001004454.1 143 gTc/gCc 0 Missense_Mutation A 10 OR1L8 SNP 9 A G 124370150 124370150 Broad ZNF79 7633 broad.mit.edu GRCh37 9 130207146 130207146 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000342483.5:c.1167C>T p.Tyr389= p.Y389= ENST00000342483 NM_007135.2 389 taC/taT 0 Silent C 17 ZNF79 SNP 9 C T 129246967 129246967 Broad C9orf78 51759 broad.mit.edu GRCh37 9 132597484 132597484 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000372447.3:c.17A>C p.Lys6Thr p.K6T ENST00000372447 NM_016520.2 6 aAg/aCg 0 Missense_Mutation T 56 C9orf78 SNP 9 T G 131637305 131637305 Broad CAMSAP1 157922 broad.mit.edu GRCh37 9 138714002 138714002 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000389532.4:c.2505C>G p.Ser835Arg p.S835R ENST00000389532 NM_015447.3 835 agC/agG 0 Missense_Mutation G 46 CAMSAP1 SNP 9 G C 137853823 137853823 Broad NOTCH1 4851 broad.mit.edu GRCh37 9 139391081 139391081 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000277541.6:c.7110C>A p.Ser2370Arg p.S2370R ENST00000277541 NM_017617.3 2370 agC/agA 0 Missense_Mutation G 46 NOTCH1 SNP 9 G T 138510902 138510902 Broad DPP7 29952 broad.mit.edu GRCh37 9 140007856 140007856 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000371579.2:c.578C>T p.Ala193Val p.A193V ENST00000371579 NM_013379.2 193 gCa/gTa 0 Missense_Mutation G 46 DPP7 SNP 9 G A 139127677 139127677 Broad FAM47A 158724 broad.mit.edu GRCh37 X 34149721 34149721 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown x x x ENST00000346193.3:c.675G>A p.Pro225= p.P225= ENST00000346193 NM_203408.3 225 ccG/ccA 0 Silent C 23 FAM47A SNP 23 C T 34059642 34059642 Broad B3GNT7 93010 broad.mit.edu GRCh37 2 232263379 232263380 + inframe_insertion In_Frame_Ins INS - - GCG novel Unknown TCGA-61-2113-01 TCGA-61-2113-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000287590.5:c.950_952dup p.Cys317_Asp318insGly p.C317_D318insG ENST00000287590 NM_145236.2 317 tgc/tGCGgc 0 In_Frame_Ins - 55 B3GNT7 INS 2 GCG - 231971624 231971623 Broad TP53 7157 genome.wustl.edu GRCh37 17 7577498 7577498 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.782+1G>A p.X261_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 18 TP53 SNP 17 T T 7518223 7518223 WashU PLIN2 123 genome.wustl.edu GRCh37 9 19116373 19116373 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276914.2:c.1187C>A p.Thr396Lys p.T396K ENST00000276914 NM_001122.3 396 aCg/aAg 0 Missense_Mutation G 40 PLIN2 SNP 9 G T 19106373 19106373 WashU ACIN1 22985 genome.wustl.edu GRCh37 14 23549748 23549748 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262710.1:c.970C>G p.Pro324Ala p.P324A ENST00000262710 NM_001164814.1 324 Ccc/Gcc 0 Missense_Mutation G 44 ACIN1 SNP 14 G C 22619588 22619588 WashU SGSM1 129049 genome.wustl.edu GRCh37 22 25240895 25240895 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400359.4:c.95G>A p.Arg32His p.R32H ENST00000400359 NM_133454.2 32 cGc/cAc 0 Missense_Mutation G 38 SGSM1 SNP 22 A A 23570895 23570895 WashU OXSM 54995 genome.wustl.edu GRCh37 3 25833483 25833483 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000280701.3:c.972C>G p.Ala324= p.A324= ENST00000280701 NM_017897.2 324 gcC/gcG 0 Silent C 24 OXSM SNP 3 C G 25808487 25808487 WashU NEK10 152110 genome.wustl.edu GRCh37 3 27332149 27332149 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341435.5:c.1702G>A p.Val568Ile p.V568I ENST00000341435 NM_199347.2 568 Gta/Ata 0 Missense_Mutation C 19 NEK10 SNP 3 C T 27307153 27307153 WashU RP11-231C14.4 genome.wustl.edu GRCh37 16 29496932 29496932 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000354563.5:c.343G>C p.Val115Leu p.V115L ENST00000354563 115 Gtg/Ctg 0 Missense_Mutation C 17 ENSG00000169203 SNP 16 G G 29404433 29404433 WashU CCDC129 223075 genome.wustl.edu GRCh37 7 31617736 31617736 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000451887.2:c.936C>T p.Pro312= p.P312= ENST00000451887 NM_001257968.1 312 ccC/ccT 0 Silent C 24 CCDC129 SNP 7 C T 31584261 31584261 WashU CSMD2 114784 genome.wustl.edu GRCh37 1 34033397 34033397 + intron_variant,NMD_transcript_variant Intron SNP C C T novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000241312.4:c.8138-31G>A *2713* ENST00000241312 0 Missense_Mutation C 31 CSMD2 SNP 1 C T 33805984 33805984 WashU MCM5 4174 genome.wustl.edu GRCh37 22 35813848 35813848 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216122.4:c.1702G>T p.Val568Leu p.V568L ENST00000216122 NM_006739.3 568 Gtg/Ttg 0 Missense_Mutation G 36 MCM5 SNP 22 T T 34143848 34143848 WashU FKBP5 2289 genome.wustl.edu GRCh37 6 35604930 35604930 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000536438.1:c.111C>G p.Val37= p.V37= ENST00000536438 NM_001145775.1 37 gtC/gtG 0 Silent G 45 FKBP5 SNP 6 G C 35712908 35712908 WashU ANKRD27 84079 genome.wustl.edu GRCh37 19 33122333 33122333 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306065.4:c.1184C>T p.Ser395Leu p.S395L ENST00000306065 NM_032139.2 395 tCg/tTg 0 Missense_Mutation G 37 ANKRD27 SNP 19 G A 37814173 37814173 WashU THADA 63892 genome.wustl.edu GRCh37 2 43520303 43520303 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405006.4:c.4488A>T p.Gly1496= p.G1496= ENST00000405006 NM_001083953.1 1496 ggA/ggT 0 Silent T 50 THADA SNP 2 T A 43373807 43373807 WashU TTC38 55020 genome.wustl.edu GRCh37 22 46677513 46677513 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381031.3:c.633G>T p.Pro211= p.P211= ENST00000381031 NM_017931.2 211 ccG/ccT 0 Silent G 37 TTC38 SNP 22 T T 45056177 45056177 WashU DNAH1 25981 genome.wustl.edu GRCh37 3 52388951 52388951 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000420323.2:c.3573C>T p.Asp1191= p.D1191= ENST00000420323 NM_015512.4 1191 gaC/gaT 0 Silent C 19 DNAH1 SNP 3 C T 52363991 52363991 WashU IL17RB 55540 genome.wustl.edu GRCh37 3 53883724 53883724 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000288167.3:c.128G>A p.Gly43Glu p.G43E ENST00000288167 NM_018725.3 43 gGa/gAa 0 Missense_Mutation G 41 IL17RB SNP 3 G A 53858764 53858764 WashU HESX1 8820 genome.wustl.edu GRCh37 3 57232945 57232945 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295934.3:c.193C>G p.Pro65Ala p.P65A ENST00000295934 NM_003865.2 65 Cct/Gct 0 Missense_Mutation G 41 HESX1 SNP 3 G C 57207985 57207985 WashU ZNF813 126017 genome.wustl.edu GRCh37 19 53994554 53994554 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396403.4:c.1068G>A p.Lys356= p.K356= ENST00000396403 NM_001004301.3 356 aaG/aaA 0 Silent G 36 ZNF813 SNP 19 G A 58686366 58686366 WashU MAP1B 4131 genome.wustl.edu GRCh37 5 71490040 71490040 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296755.7:c.858C>T p.Gly286= p.G286= ENST00000296755 NM_005909.3 286 ggC/ggT 0 Silent C 27 MAP1B SNP 5 C T 71525796 71525796 WashU SNX33 257364 genome.wustl.edu GRCh37 15 75942730 75942730 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308527.5:c.1287G>A p.Gln429= p.Q429= ENST00000308527 NM_153271.1 429 caG/caA 0 Silent G 33 SNX33 SNP 15 G A 73729785 73729785 WashU ZZZ3 26009 genome.wustl.edu GRCh37 1 78098228 78098228 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370801.3:c.812C>T p.Ser271Leu p.S271L ENST00000370801 NM_015534.4 271 tCa/tTa 0 Missense_Mutation G 45 ZZZ3 SNP 1 G A 77870816 77870816 WashU FAT3 120114 genome.wustl.edu GRCh37 11 92086159 92086159 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298047.6:c.881C>T p.Ala294Val p.A294V ENST00000298047 294 gCg/gTg 0 Missense_Mutation C 27 FAT3 SNP 11 C T 91725807 91725807 WashU NR1H4 9971 genome.wustl.edu GRCh37 12 100930769 100930769 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000551379.1:c.905C>T p.Thr302Met p.T302M ENST00000551379 302 aCg/aTg 0 Missense_Mutation C 19 NR1H4 SNP 12 C T 99454900 99454900 WashU GNB2 2783 genome.wustl.edu GRCh37 7 100275155 100275155 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303210.4:c.302T>C p.Met101Thr p.M101T ENST00000303210 NM_005273.3 101 aTg/aCg 0 Missense_Mutation T 51 GNB2 SNP 7 T C 100113091 100113091 WashU KMT2A 4297 genome.wustl.edu GRCh37 11 118373604 118373604 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000534358.1:c.6997A>G p.Lys2333Glu p.K2333E ENST00000534358 NM_005933.3 2333 Aaa/Gaa 0 Missense_Mutation A 13 MLL SNP 11 A G 117878814 117878814 WashU WDR5B 54554 genome.wustl.edu GRCh37 3 122133514 122133514 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330689.4:c.862G>C p.Glu288Gln p.E288Q ENST00000330689 NM_019069.3 288 Gag/Cag 0 Missense_Mutation C 32 WDR5B SNP 3 C G 123616204 123616204 WashU NUP205 23165 genome.wustl.edu GRCh37 7 135269658 135269658 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000285968.6:c.1121A>T p.Glu374Val p.E374V ENST00000285968 NM_015135.2 374 gAa/gTa 0 Missense_Mutation A 9 NUP205 SNP 7 A T 134920198 134920198 WashU ATP11C 286410 genome.wustl.edu GRCh37 X 138850580 138850580 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327569.3:c.2239C>T p.His747Tyr p.H747Y ENST00000327569 NM_173694.4 747 Cat/Tat 0 Missense_Mutation G 48 ATP11C SNP 23 G A 138678246 138678246 WashU PCDHB9 56127 genome.wustl.edu GRCh37 5 140568232 140568232 + non_coding_transcript_exon_variant,non_coding_transcript_variant RNA SNP C C T novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316105.4:n.1338C>T *446* ENST00000316105 0 Missense_Mutation C 19 PCDHB9 SNP 5 C T 140548416 140548416 WashU EPHA1 2041 genome.wustl.edu GRCh37 7 143088789 143088789 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000275815.3:c.2776C>G p.Arg926Gly p.R926G ENST00000275815 NM_005232.4 926 Cgc/Ggc 0 Missense_Mutation G 40 EPHA1 SNP 7 G C 142798911 142798911 WashU SH3RF2 153769 genome.wustl.edu GRCh37 5 145442061 145442061 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000511217.1:c.1987G>A p.Gly663Arg p.G663R ENST00000511217 663 Gga/Aga 0 Missense_Mutation G 39 SH3RF2 SNP 5 G A 145422254 145422254 WashU KIF4B 285643 genome.wustl.edu GRCh37 5 154395170 154395170 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000435029.4:c.1751C>A p.Thr584Lys p.T584K ENST00000435029 NM_001099293.1 584 aCa/aAa 0 Missense_Mutation C 17 KIF4B SNP 5 C A 154375363 154375363 WashU ASIC4 55515 genome.wustl.edu GRCh37 2 220399975 220399975 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000347842.3:c.1482G>T p.Met494Ile p.M494I ENST00000347842 NM_182847.2 494 atG/atT 0 Missense_Mutation G 47 ACCN4 SNP 2 G T 220108219 220108219 WashU AGAP1 116987 genome.wustl.edu GRCh37 2 236817467 236817467 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304032.8:c.1241C>T p.Thr414Met p.T414M ENST00000304032 NM_001037131.2 414 aCg/aTg 0 Missense_Mutation C 19 AGAP1 SNP 2 C T 236482206 236482206 WashU RGS7 6000 genome.wustl.edu GRCh37 1 241262054 241262054 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0912-01 TCGA-13-0912-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366565.1:c.87C>T p.Asp29= p.D29= ENST00000366565 NM_002924.4 29 gaC/gaT 0 Silent G 40 RGS7 SNP 1 G A 239328677 239328677 WashU LLGL2 3993 genome.wustl.edu GRCh37 17 73560554 73560568 + inframe_deletion In_Frame_Del DEL CTTCACTGTCCTCAC CTTCACTGTCCTCAC - Unknown TCGA-13-0912-01 TCGA-13-0912-10 CTTCACTGTCCTCAC CTTCACTGTCCTCAC CTTCACTGTCCTCAC - CTTCACTGTCCTCAC CTTCACTGTCCTCAC Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000392550.3:c.1002_1016del p.Phe335_Thr339del p.F335_T339del ENST00000392550 NM_001031803.1 334 ggCTTCACTGTCCTCACa/gga 0 In_Frame_Del CTTCACTGTCCTCAC 28 LLGL2 DEL 17 CTTCACTGTCCTCAC - 71072163 71072149 WashU LLGL2 3993 genome.wustl.edu GRCh37 17 73560564 73560564 + frameshift_variant Frame_Shift_Del DEL C C - Unknown TCGA-13-0912-01 TCGA-13-0912-10 CTTCACTGTCCTCAC CTTCACTGTCCTCAC CTTCACTGTCCTCAC - CTTCACTGTCCTCAC CTTCACTGTCCTCAC Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000392550.3:c.1012del p.Leu338SerfsTer26 p.L338Sfs*26 ENST00000392550 NM_001031803.1 338 Ctc/tc 0 In_Frame_Del CTTCACTGTCCTCAC 24 LLGL2 DEL 17 CTTCACTGTCCTCAC - 71072159 71072159 WashU ATRX 546 hgsc.bcm.edu GRCh37 X 76777847 76777847 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373344.5:c.6869A>G p.Asn2290Ser p.N2290S ENST00000373344 NM_000489.3 2290 aAc/aGc 0 Missense_Mutation T 60 ATRX SNP 23 T C 76664503 76664503 Baylor C14orf159 80017 hgsc.bcm.edu GRCh37 14 91639670 91639670 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000518868.1:c.494G>T p.Cys165Phe p.C165F ENST00000518868 NM_001286470.1 165 tGc/tTc 0 Missense_Mutation G 46 C14orf159 SNP 14 G T 90709423 90709423 Baylor CCNA1 8900 hgsc.bcm.edu GRCh37 13 37015329 37015329 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000255465.4:c.1173T>A p.Ala391= p.A391= ENST00000255465 391 gcT/gcA 0 Silent T 56 CCNA1 SNP 13 T A 35913329 35913329 Baylor ERBB2 2064 hgsc.bcm.edu GRCh37 17 37868208 37868208 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000269571.5:c.929C>T p.Ser310Phe p.S310F ENST00000269571 310 tCc/tTc 0 Missense_Mutation C 30 ERBB2 SNP 17 C T 35121734 35121734 Baylor AMER1 139285 hgsc.bcm.edu GRCh37 X 63412538 63412538 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000330258.3:c.629C>T p.Ser210Leu p.S210L ENST00000330258 NM_152424.3 210 tCa/tTa 0 Missense_Mutation G 45 FAM123B SNP 23 G A 63329263 63329263 Baylor FAM160A1 729830 hgsc.bcm.edu GRCh37 4 152559847 152559847 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000435205.1:c.1165G>A p.Ala389Thr p.A389T ENST00000435205 NM_001109977.1 389 Gca/Aca 0 Missense_Mutation G 42 FAM160A1 SNP 4 G A 152779297 152779297 Baylor FBXO3 26273 hgsc.bcm.edu GRCh37 11 33768763 33768763 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265651.3:c.1152T>A p.Phe384Leu p.F384L ENST00000265651 NM_012175.3 384 ttT/ttA 0 Missense_Mutation A 9 FBXO3 SNP 11 A T 33725339 33725339 Baylor GUCY2F 2986 hgsc.bcm.edu GRCh37 X 108652311 108652311 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000218006.2:c.1878T>C p.Cys626= p.C626= ENST00000218006 NM_001522.2 626 tgT/tgC 0 Silent A 2 GUCY2F SNP 23 A G 108538967 108538967 Baylor HMCN1 83872 hgsc.bcm.edu GRCh37 1 186113408 186113408 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000271588.4:c.14028G>A p.Ala4676= p.A4676= ENST00000271588 NM_031935.2 4676 gcG/gcA 0 Silent G 40 HMCN1 SNP 1 G A 184380031 184380031 Baylor HRNR 388697 hgsc.bcm.edu GRCh37 1 152195729 152195729 + frameshift_variant,start_lost,start_retained_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368801.2:c.1del p.Met1? p.M1? ENST00000368801 NM_001009931.2 1 Atg/tg 0 Frame_Shift_Del T 52 HRNR DEL 1 T - 150462353 150462353 Baylor IFT140 9742 hgsc.bcm.edu GRCh37 16 1575305 1575305 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000426508.2:c.2791C>T p.Arg931Cys p.R931C ENST00000426508 NM_014714.3 931 Cgc/Tgc 0 Missense_Mutation G 39 IFT140 SNP 16 G A 1515306 1515306 Baylor KDM2A 22992 hgsc.bcm.edu GRCh37 11 66983400 66983400 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000529006.2:c.667C>T p.His223Tyr p.H223Y ENST00000529006 NM_012308.2 223 Cac/Tac 0 Missense_Mutation C 29 KDM2A SNP 11 C T 66739976 66739976 Baylor UNC79 57578 hgsc.bcm.edu GRCh37 14 94120300 94120300 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000256339.4:c.5797C>T p.Arg1933Trp p.R1933W ENST00000256339 NM_020818.3 1933 Cgg/Tgg 0 Missense_Mutation C 19 KIAA1409 SNP 14 C T 93190053 93190053 Baylor LRP1 4035 hgsc.bcm.edu GRCh37 12 57570937 57570937 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000243077.3:c.4105G>A p.Glu1369Lys p.E1369K ENST00000243077 NM_002332.2 1369 Gag/Aag 0 Missense_Mutation G 37 LRP1 SNP 12 G A 55857204 55857204 Baylor MAP7D2 256714 hgsc.bcm.edu GRCh37 X 20043112 20043112 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000379643.5:c.1369G>A p.Glu457Lys p.E457K ENST00000379643 NM_001168465.1 457 Gaa/Aaa 0 Missense_Mutation C 30 MAP7D2 SNP 23 C T 19953033 19953033 Baylor MAPK14 1432 hgsc.bcm.edu GRCh37 6 36070418 36070418 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000229795.3:c.833A>T p.Asn278Ile p.N278I ENST00000229795 NM_001315.2 278 aAt/aTt 0 Missense_Mutation A 4 MAPK14 SNP 6 A T 36178396 36178396 Baylor MIB1 57534 hgsc.bcm.edu GRCh37 18 19378064 19378064 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261537.6:c.1112G>A p.Arg371Gln p.R371Q ENST00000261537 NM_020774.3 371 cGa/cAa 0 Missense_Mutation G 37 MIB1 SNP 18 G A 17632062 17632062 Baylor MOCOS 55034 hgsc.bcm.edu GRCh37 18 33848514 33848514 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261326.5:c.2533C>G p.Leu845Val p.L845V ENST00000261326 NM_017947.2 845 Ctg/Gtg 0 Missense_Mutation C 24 MOCOS SNP 18 C G 32102512 32102512 Baylor MYCBP2 23077 hgsc.bcm.edu GRCh37 13 77695606 77695606 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000544440.2:c.7928C>T p.Ser2643Phe p.S2643F ENST00000544440 2643 tCt/tTt 0 Missense_Mutation G 33 MYCBP2 SNP 13 G A 76593607 76593607 Baylor PDCD6IP 10015 hgsc.bcm.edu GRCh37 3 33877623 33877623 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000457054.2:c.937C>G p.Leu313Val p.L313V ENST00000457054 NM_013374.5 313 Ctt/Gtt 0 Missense_Mutation C 24 PDCD6IP SNP 3 C G 33852627 33852627 Baylor PDE4DIP 9659 hgsc.bcm.edu GRCh37 1 144912276 144912276 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369356.4:c.1999G>C p.Val667Leu p.V667L ENST00000369356 NM_014644.5 667 Gtg/Ctg 0 Missense_Mutation C 18 PDE4DIP SNP 1 C G 143623633 143623633 Baylor PPP2R5B 5526 hgsc.bcm.edu GRCh37 11 64699341 64699341 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000164133.2:c.1116+1G>T p.X372_splice ENST00000164133 NM_006244.3 0 Splice_Site_SNP G 44 PPP2R5B SNP 11 G T 64455917 64455917 Baylor SELP 6403 hgsc.bcm.edu GRCh37 1 169582293 169582293 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263686.6:c.649C>A p.Leu217Met p.L217M ENST00000263686 NM_003005.3 217 Ctg/Atg 0 Missense_Mutation G 33 SELP SNP 1 G T 167848917 167848917 Baylor SGSM2 9905 hgsc.bcm.edu GRCh37 17 2266146 2266146 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000268989.3:c.473A>C p.Lys158Thr p.K158T ENST00000268989 NM_014853.2 158 aAg/aCg 0 Missense_Mutation A 3 SGSM2 SNP 17 A C 2212896 2212896 Baylor SLC2A1 6513 hgsc.bcm.edu GRCh37 1 43392858 43392858 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 A A A G A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000426263.3:c.1333T>C p.Phe445Leu p.F445L ENST00000426263 NM_006516.2 445 Ttc/Ctc 0 Missense_Mutation A 3 SLC2A1 SNP 1 A G 43165445 43165445 Baylor SPINK5 11005 hgsc.bcm.edu GRCh37 5 147499875 147499875 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359874.3:c.2468del p.Lys823ArgfsTer119 p.K823Rfs*119 ENST00000359874 NM_001127698.1 820 gAa/ga 0 Frame_Shift_Del A 9 SPINK5 DEL 5 A - 147480068 147480068 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 Missense_Mutation G 38 TP53 SNP 17 G A 7517846 7517846 Baylor NME9 347736 hgsc.bcm.edu GRCh37 3 138022468 138022468 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000383180.2:c.626G>A p.Gly209Asp p.G209D ENST00000383180 NM_178130.2 209 gGc/gAc 0 Missense_Mutation C 26 TXNDC6 SNP 3 C T 139505158 139505158 Baylor USP4 7375 hgsc.bcm.edu GRCh37 3 49337910 49337910 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000265560.4:c.1502G>C p.Arg501Thr p.R501T ENST00000265560 NM_003363.3 501 aGa/aCa 0 Missense_Mutation C 32 USP4 SNP 3 C G 49312914 49312914 Baylor XIRP2 129446 hgsc.bcm.edu GRCh37 2 168107660 168107660 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000409195.1:c.9758G>A p.Arg3253Lys p.R3253K ENST00000409195 NM_152381.5 3253 aGa/aAa 0 Missense_Mutation G 33 XIRP2 SNP 2 G A 167815906 167815906 Baylor ZCCHC6 79670 hgsc.bcm.edu GRCh37 9 88937854 88937854 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375963.3:c.2811A>T p.Lys937Asn p.K937N ENST00000375963 NM_001185059.1 937 aaA/aaT 0 Missense_Mutation T 64 ZCCHC6 SNP 9 T A 88127674 88127674 Baylor ZNF407 55628 hgsc.bcm.edu GRCh37 18 72343013 72343013 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000299687.5:c.38A>G p.Asp13Gly p.D13G ENST00000299687 NM_017757.2 13 gAt/gGt 0 Missense_Mutation A 12 ZNF407 SNP 18 A G 70472001 70472001 Baylor ZNF681 148213 hgsc.bcm.edu GRCh37 19 23927742 23927743 + frameshift_variant Frame_Shift_Del DEL CA CA - novel Unknown TCGA-13-0889-01 TCGA-13-0889-10 CA CA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000402377.3:c.609_610del p.Cys203TrpfsTer5 p.C203Wfs*5 ENST00000402377 NM_138286.2 203 tgTGga/tgga 0 Frame_Shift_Del CA 21 ZNF681 DEL 19 CA - 23719583 23719582 Baylor ABCG4 64137 hgsc.bcm.edu GRCh37 11 119029424 119029424 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000307417.3:c.1325C>A p.Thr442Asn p.T442N ENST00000307417 NM_022169.4 442 aCt/aAt 0 Missense_Mutation C 20 ABCG4 SNP 11 C A 118534634 118534634 Baylor ACSS3 79611 hgsc.bcm.edu GRCh37 12 81613841 81613841 + synonymous_variant Silent SNP A A G novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000548058.1:c.1500A>G p.Gly500= p.G500= ENST00000548058 500 ggA/ggG 0 Silent A 9 ACSS3 SNP 12 A G 80137972 80137972 Baylor ADAMTS17 170691 hgsc.bcm.edu GRCh37 15 100821543 100821543 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000268070.4:c.680G>T p.Arg227Leu p.R227L ENST00000268070 NM_139057.2 227 cGg/cTg 0 Missense_Mutation C 23 ADAMTS17 SNP 15 C A 98639066 98639066 Baylor AFAP1 60312 hgsc.bcm.edu GRCh37 4 7840399 7840399 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000420658.1:c.578A>T p.Gln193Leu p.Q193L ENST00000420658 NM_001134647.1 193 cAg/cTg 0 Missense_Mutation T 55 AFAP1 SNP 4 T A 7891299 7891299 Baylor ALPK2 115701 hgsc.bcm.edu GRCh37 18 56191190 56191190 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361673.3:c.5606C>T p.Ala1869Val p.A1869V ENST00000361673 NM_052947.3 1869 gCt/gTt 0 Missense_Mutation G 34 ALPK2 SNP 18 G A 54342170 54342170 Baylor AMPH 273 hgsc.bcm.edu GRCh37 7 38505071 38505071 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000356264.2:c.745C>T p.Pro249Ser p.P249S ENST00000356264 NM_001635.3 249 Ccc/Tcc 0 Missense_Mutation G 42 AMPH SNP 7 G A 38471596 38471596 Baylor APAF1 317 hgsc.bcm.edu GRCh37 12 99061363 99061363 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000551964.1:c.1435G>A p.Asp479Asn p.D479N ENST00000551964 NM_181861.1 479 Gac/Aac 0 Missense_Mutation G 33 APAF1 SNP 12 G A 97585494 97585494 Baylor ARFGEF1 10565 hgsc.bcm.edu GRCh37 8 68204116 68204116 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262215.3:c.882A>T p.Glu294Asp p.E294D ENST00000262215 NM_006421.4 294 gaA/gaT 0 Missense_Mutation T 60 ARFGEF1 SNP 8 T A 68366670 68366670 Baylor ARR3 407 hgsc.bcm.edu GRCh37 X 69489735 69489735 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000307959.8:c.82G>C p.Asp28His p.D28H ENST00000307959 NM_004312.2 28 Gac/Cac 0 Missense_Mutation G 41 ARR3 SNP 23 G C 69406460 69406460 Baylor ASAP3 55616 hgsc.bcm.edu GRCh37 1 23760008 23760008 + synonymous_variant Silent SNP C C A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000336689.3:c.2037G>T p.Ala679= p.A679= ENST00000336689 NM_017707.3 679 gcG/gcT 0 Silent C 23 ASAP3 SNP 1 C A 23632595 23632595 Baylor ATAD2 29028 hgsc.bcm.edu GRCh37 8 124340475 124340475 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000287394.5:c.3823T>A p.Ser1275Thr p.S1275T ENST00000287394 NM_014109.3 1275 Tct/Act 0 Missense_Mutation A 9 ATAD2 SNP 8 A T 124409656 124409656 Baylor BNC1 646 hgsc.bcm.edu GRCh37 15 83932832 83932832 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000345382.2:c.1171G>A p.Gly391Arg p.G391R ENST00000345382 NM_001717.3 391 Ggg/Agg 0 Missense_Mutation C 24 BNC1 SNP 15 C T 81723836 81723836 Baylor SLC52A3 113278 hgsc.bcm.edu GRCh37 20 744283 744283 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000217254.7:c.932A>G p.Asn311Ser p.N311S ENST00000217254 NM_033409.3 311 aAc/aGc 0 Missense_Mutation T 60 C20orf54 SNP 20 T C 692283 692283 Baylor C9orf3 84909 hgsc.bcm.edu GRCh37 9 97522493 97522493 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000375315.2:c.428T>C p.Leu143Ser p.L143S ENST00000375315 NM_001193329.1 143 tTg/tCg 0 Missense_Mutation T 63 C9orf3 SNP 9 T C 96562314 96562314 Baylor CADM3 57863 hgsc.bcm.edu GRCh37 1 159163723 159163723 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368124.4:c.686C>T p.Thr229Ile p.T229I ENST00000368124 NM_021189.3 229 aCa/aTa 0 Missense_Mutation C 17 CADM3 SNP 1 C T 157430347 157430347 Baylor CASR 846 hgsc.bcm.edu GRCh37 3 122003922 122003922 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000498619.1:c.3151C>T p.Arg1051Trp p.R1051W ENST00000498619 NM_001178065.1 1051 Cgg/Tgg 0 Missense_Mutation C 27 CASR SNP 3 C T 123486612 123486612 Baylor CDKL1 8814 hgsc.bcm.edu GRCh37 14 50805740 50805740 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000395834.1:c.666C>T p.Leu222= p.L222= ENST00000395834 NM_004196.3 222 ctC/ctT 0 Silent G 45 CDKL1 SNP 14 G A 49875490 49875490 Baylor COL4A6 1288 hgsc.bcm.edu GRCh37 X 107406237 107406237 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000372216.4:c.4104A>G p.Gln1368= p.Q1368= ENST00000372216 NM_001847.2 1368 caA/caG 0 Silent T 64 COL4A6 SNP 23 T C 107292893 107292893 Baylor CTSE 1510 hgsc.bcm.edu GRCh37 1 206328779 206328779 + synonymous_variant Silent SNP A A T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358184.2:c.846A>T p.Thr282= p.T282= ENST00000358184 NM_001910.3 282 acA/acT 0 Silent A 7 CTSE SNP 1 A T 204495402 204495402 Baylor DKK2 27123 hgsc.bcm.edu GRCh37 4 107845851 107845851 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000285311.3:c.380G>C p.Cys127Ser p.C127S ENST00000285311 NM_014421.2 127 tGt/tCt 0 Missense_Mutation C 17 DKK2 SNP 4 C G 108065300 108065300 Baylor DOK6 220164 hgsc.bcm.edu GRCh37 18 67508519 67508519 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000382713.5:c.896del p.Thr299AsnfsTer42 p.T299Nfs*42 ENST00000382713 NM_152721.5 299 aCa/aa 0 Frame_Shift_Del C 17 DOK6 DEL 18 C - 65659499 65659499 Baylor DRD1 1812 hgsc.bcm.edu GRCh37 5 174868790 174868790 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393752.2:c.1313T>C p.Ile438Thr p.I438T ENST00000393752 NM_000794.3 438 aTc/aCc 0 Missense_Mutation A 12 DRD1 SNP 5 A G 174801396 174801396 Baylor ERBB2 2064 hgsc.bcm.edu GRCh37 17 37881617 37881617 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269571.5:c.2687G>A p.Arg896His p.R896H ENST00000269571 896 cGc/cAc 0 Missense_Mutation G 38 ERBB2 SNP 17 G A 35135143 35135143 Baylor ERBB2IP 55914 hgsc.bcm.edu GRCh37 5 65342358 65342358 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000506030.1:c.1780G>A p.Val594Ile p.V594I ENST00000506030 594 Gtt/Att 0 Missense_Mutation G 48 ERBB2IP SNP 5 G A 65378114 65378114 Baylor FAM71B 153745 hgsc.bcm.edu GRCh37 5 156590505 156590505 + synonymous_variant Silent SNP A A T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000302938.4:c.771T>A p.Ala257= p.A257= ENST00000302938 NM_130899.2 257 gcT/gcA 0 Silent A 7 FAM71B SNP 5 A T 156523083 156523083 Baylor FCF1 51077 hgsc.bcm.edu GRCh37 14 75200825 75200825 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000341162.4:c.500G>T p.Arg167Ile p.R167I ENST00000341162 NM_015962.4 167 aGa/aTa 0 Missense_Mutation G 33 FCF1 SNP 14 G T 74270578 74270578 Baylor FOXG1 2290 hgsc.bcm.edu GRCh37 14 29237865 29237865 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000382535.3:c.1380G>C p.Leu460Phe p.L460F ENST00000382535 460 ttG/ttC 0 Missense_Mutation G 46 FOXG1 SNP 14 G C 28307616 28307616 Baylor FOXN4 121643 hgsc.bcm.edu GRCh37 12 109717702 109717702 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000299162.5:c.1328T>A p.Phe443Tyr p.F443Y ENST00000299162 NM_213596.2 443 tTc/tAc 0 Missense_Mutation A 9 FOXN4 SNP 12 A T 108202085 108202085 Baylor FOXP2 93986 hgsc.bcm.edu GRCh37 7 114304392 114304392 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000408937.3:c.1979G>A p.Ser660Asn p.S660N ENST00000408937 NM_014491.3 660 aGt/aAt 0 Missense_Mutation G 36 FOXP2 SNP 7 G A 114091628 114091628 Baylor FTSJ3 117246 hgsc.bcm.edu GRCh37 17 61903952 61903952 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000427159.2:c.148G>T p.Asp50Tyr p.D50Y ENST00000427159 NM_017647.3 50 Gac/Tac 0 Missense_Mutation C 30 FTSJ3 SNP 17 C A 59257684 59257684 Baylor GLI1 2735 hgsc.bcm.edu GRCh37 12 57858598 57858598 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000228682.2:c.336G>A p.Ser112= p.S112= ENST00000228682 NM_005269.2 112 tcG/tcA 0 Silent G 38 GLI1 SNP 12 G A 56144865 56144865 Baylor GRIK4 2900 hgsc.bcm.edu GRCh37 11 120702670 120702670 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000527524.2:c.621C>T p.Ile207= p.I207= ENST00000527524 NM_001282470.1 207 atC/atT 0 Silent C 30 GRIK4 SNP 11 C T 120207880 120207880 Baylor GUCY2C 2984 hgsc.bcm.edu GRCh37 12 14794039 14794039 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261170.3:c.2045C>T p.Thr682Ile p.T682I ENST00000261170 NM_004963.3 682 aCt/aTt 0 Missense_Mutation G 36 GUCY2C SNP 12 G A 14685306 14685306 Baylor HACE1 57531 hgsc.bcm.edu GRCh37 6 105244592 105244592 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262903.4:c.754C>A p.His252Asn p.H252N ENST00000262903 NM_020771.3 252 Cac/Aac 0 Missense_Mutation G 45 HACE1 SNP 6 G T 105351285 105351285 Baylor HCFC2 29915 hgsc.bcm.edu GRCh37 12 104473358 104473358 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000229330.4:c.609T>C p.Ser203= p.S203= ENST00000229330 NM_013320.2 203 tcT/tcC 0 Silent T 55 HCFC2 SNP 12 T C 102997488 102997488 Baylor IGF2R 3482 hgsc.bcm.edu GRCh37 6 160517553 160517553 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000356956.1:c.6738C>T p.Phe2246= p.F2246= ENST00000356956 NM_000876.2 2246 ttC/ttT 0 Silent C 30 IGF2R SNP 6 C T 160437543 160437543 Baylor IL17RC 84818 hgsc.bcm.edu GRCh37 3 9962623 9962623 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295981.3:c.805G>A p.Glu269Lys p.E269K ENST00000295981 NM_153461.3 269 Gaa/Aaa 0 Missense_Mutation G 37 IL17RC SNP 3 G A 9937623 9937623 Baylor IL6R 3570 hgsc.bcm.edu GRCh37 1 154437778 154437778 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368485.3:c.1329G>A p.Ser443= p.S443= ENST00000368485 NM_000565.3 443 tcG/tcA 0 Silent G 37 IL6R SNP 1 G A 152704402 152704402 Baylor ITSN1 6453 hgsc.bcm.edu GRCh37 21 35254666 35254666 + synonymous_variant Silent SNP C C G novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381318.3:c.4461C>G p.Leu1487= p.L1487= ENST00000381318 NM_003024.2 1487 ctC/ctG 0 Silent C 30 ITSN1 SNP 21 C G 34176536 34176536 Baylor KAL1 3730 hgsc.bcm.edu GRCh37 X 8591675 8591675 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262648.3:c.292A>G p.Lys98Glu p.K98E ENST00000262648 NM_000216.2 98 Aaa/Gaa 0 Missense_Mutation T 62 KAL1 SNP 23 T C 8551675 8551675 Baylor KDM3B 51780 hgsc.bcm.edu GRCh37 5 137708418 137708418 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000314358.5:c.248A>G p.His83Arg p.H83R ENST00000314358 NM_016604.3 83 cAt/cGt 0 Missense_Mutation A 8 KDM3B SNP 5 A G 137736317 137736317 Baylor TTI1 9675 hgsc.bcm.edu GRCh37 20 36641604 36641604 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373448.2:c.615G>C p.Leu205Phe p.L205F ENST00000373448 NM_014657.1 205 ttG/ttC 0 Missense_Mutation C 17 TTI1 SNP 20 C G 36075018 36075018 Baylor KIAA1324L 222223 hgsc.bcm.edu GRCh37 7 86556192 86556192 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000450689.2:c.1130G>A p.Arg377Gln p.R377Q ENST00000450689 NM_001142749.2 377 cGg/cAg 0 Missense_Mutation C 23 KIAA1324L SNP 7 C T 86394128 86394128 Baylor KIT 3815 hgsc.bcm.edu GRCh37 4 55561702 55561702 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000288135.5:c.92C>T p.Pro31Leu p.P31L ENST00000288135 NM_000222.2 31 cCa/cTa 0 Missense_Mutation C 21 KIT SNP 4 C T 55256459 55256459 Baylor KTN1 3895 hgsc.bcm.edu GRCh37 14 56104028 56104028 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000395314.3:c.1662G>A p.Met554Ile p.M554I ENST00000395314 NM_001079521.1 554 atG/atA 0 Missense_Mutation G 47 KTN1 SNP 14 G A 55173781 55173781 Baylor LAMB4 22798 hgsc.bcm.edu GRCh37 7 107696175 107696175 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000388781.3:c.3657C>A p.Asp1219Glu p.D1219E ENST00000388781 NM_007356.2 1219 gaC/gaA 0 Missense_Mutation G 44 LAMB4 SNP 7 G T 107483411 107483411 Baylor LHFPL4 375323 hgsc.bcm.edu GRCh37 3 9547725 9547725 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000287585.6:c.569T>A p.Leu190His p.L190H ENST00000287585 NM_198560.2 190 cTc/cAc 0 Missense_Mutation A 11 LHFPL4 SNP 3 A T 9522725 9522725 Baylor LRP1 4035 hgsc.bcm.edu GRCh37 12 57602963 57602963 + synonymous_variant Silent SNP G G T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000243077.3:c.12243G>T p.Val4081= p.V4081= ENST00000243077 NM_002332.2 4081 gtG/gtT 0 Silent G 47 LRP1 SNP 12 G T 55889230 55889230 Baylor LRP1B 53353 hgsc.bcm.edu GRCh37 2 141259421 141259421 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000389484.3:c.8685T>A p.Phe2895Leu p.F2895L ENST00000389484 NM_018557.2 2895 ttT/ttA 0 Missense_Mutation A 1 LRP1B SNP 2 A T 140975891 140975891 Baylor MAGEB6 158809 hgsc.bcm.edu GRCh37 X 26212648 26212648 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379034.1:c.685T>A p.Tyr229Asn p.Y229N ENST00000379034 NM_173523.2 229 Tac/Aac 0 Missense_Mutation T 57 MAGEB6 SNP 23 T A 26122569 26122569 Baylor MAP3K5 4217 hgsc.bcm.edu GRCh37 6 136932441 136932441 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000359015.4:c.2500C>T p.Pro834Ser p.P834S ENST00000359015 NM_005923.3 834 Ccc/Tcc 0 Missense_Mutation G 43 MAP3K5 SNP 6 G A 136974134 136974134 Baylor MARK4 57787 hgsc.bcm.edu GRCh37 19 45783945 45783945 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262891.4:c.1229G>A p.Arg410Gln p.R410Q ENST00000262891 NM_001199867.1 410 cGg/cAg 0 Missense_Mutation G 39 MARK4 SNP 19 G A 50475785 50475785 Baylor MDC1 9656 hgsc.bcm.edu GRCh37 6 30671316 30671316 + splice_acceptor_variant Splice_Site SNP T T C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000376406.3:c.5563-2A>G p.X1855_splice ENST00000376406 NM_014641.2 0 Splice_Site_SNP T 55 MDC1 SNP 6 T C 30779295 30779295 Baylor MLEC 9761 hgsc.bcm.edu GRCh37 12 121134227 121134227 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000228506.3:c.758G>C p.Arg253Pro p.R253P ENST00000228506 NM_014730.2 253 cGg/cCg 0 Missense_Mutation G 39 MLEC SNP 12 G C 119618610 119618610 Baylor MST1R 4486 hgsc.bcm.edu GRCh37 3 49934992 49934992 + synonymous_variant Silent SNP C C A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000296474.3:c.2007G>T p.Arg669= p.R669= ENST00000296474 NM_002447.2 669 cgG/cgT 0 Silent C 22 MST1R SNP 3 C A 49909996 49909996 Baylor MTMR8 55613 hgsc.bcm.edu GRCh37 X 63574684 63574684 + synonymous_variant Silent SNP G G T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000374852.3:c.441C>A p.Thr147= p.T147= ENST00000374852 NM_017677.3 147 acC/acA 0 Silent G 47 MTMR8 SNP 23 G T 63491409 63491409 Baylor MYBL2 4605 hgsc.bcm.edu GRCh37 20 42343841 42343841 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000217026.4:c.1892T>C p.Leu631Pro p.L631P ENST00000217026 NM_002466.3 631 cTc/cCc 0 Missense_Mutation T 54 MYBL2 SNP 20 T C 41777255 41777255 Baylor NPR1 4881 hgsc.bcm.edu GRCh37 1 153658297 153658297 + missense_variant Missense_Mutation SNP G G A rs61757359 Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368680.3:c.1621G>A p.Gly541Ser p.G541S ENST00000368680 NM_000906.3 541 Ggc/Agc 0 Missense_Mutation G 39 NPR1 SNP 1 G A 151924921 151924921 Baylor NTM 50863 hgsc.bcm.edu GRCh37 11 132016343 132016343 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000425719.2:c.335C>A p.Pro112His p.P112H ENST00000425719 112 cCt/cAt 0 Missense_Mutation C 24 NTM SNP 11 C A 131521553 131521553 Baylor OAS1 4938 hgsc.bcm.edu GRCh37 12 113354443 113354443 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000445409.2:c.784G>C p.Val262Leu p.V262L ENST00000445409 NM_001032409.1 262 Gtc/Ctc 0 Missense_Mutation G 36 OAS1 SNP 12 G C 111838826 111838826 Baylor OXCT1 5019 hgsc.bcm.edu GRCh37 5 41862746 41862746 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000196371.5:c.185G>T p.Gly62Val p.G62V ENST00000196371 NM_000436.3 62 gGt/gTt 0 Missense_Mutation C 18 OXCT1 SNP 5 C A 41898503 41898503 Baylor PAQR5 54852 hgsc.bcm.edu GRCh37 15 69677130 69677130 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000340965.3:c.294C>T p.Ser98= p.S98= ENST00000340965 NM_001104554.1 98 tcC/tcT 0 Silent C 21 PAQR5 SNP 15 C T 67464184 67464184 Baylor PATZ1 23598 hgsc.bcm.edu GRCh37 22 31740525 31740525 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000266269.5:c.1064T>G p.Val355Gly p.V355G ENST00000266269 NM_014323.2 355 gTg/gGg 0 Missense_Mutation A 6 PATZ1 SNP 22 A C 30070525 30070525 Baylor PDE4DIP 9659 hgsc.bcm.edu GRCh37 1 144906483 144906483 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000369356.4:c.2374G>T p.Val792Leu p.V792L ENST00000369356 NM_014644.5 792 Gtg/Ttg 0 Missense_Mutation C 18 PDE4DIP SNP 1 C A 143617840 143617840 Baylor PDE8B 8622 hgsc.bcm.edu GRCh37 5 76621405 76621405 + synonymous_variant Silent SNP C C A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264917.5:c.441C>A p.Gly147= p.G147= ENST00000264917 NM_003719.3 147 ggC/ggA 0 Silent C 28 PDE8B SNP 5 C A 76657161 76657161 Baylor PEX5 5830 hgsc.bcm.edu GRCh37 12 7361751 7361751 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000434354.2:c.1590C>T p.Leu530= p.L530= ENST00000434354 NM_001131023.1 530 ctC/ctT 0 Silent C 29 PEX5 SNP 12 C T 7253018 7253018 Baylor PLCB1 23236 hgsc.bcm.edu GRCh37 20 8698361 8698361 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000338037.6:c.1379A>G p.Tyr460Cys p.Y460C ENST00000338037 NM_015192.3 460 tAt/tGt 0 Missense_Mutation A 16 PLCB1 SNP 20 A G 8646361 8646361 Baylor POLM 27434 hgsc.bcm.edu GRCh37 7 44118404 44118404 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000242248.5:c.649C>G p.Leu217Val p.L217V ENST00000242248 NM_013284.2 217 Ctg/Gtg 0 Missense_Mutation G 34 POLM SNP 7 G C 44084929 44084929 Baylor PPP2R3A 5523 hgsc.bcm.edu GRCh37 3 135745847 135745847 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264977.3:c.2169T>A p.Ser723Arg p.S723R ENST00000264977 NM_001190447.1 723 agT/agA 0 Missense_Mutation T 57 PPP2R3A SNP 3 T A 137228537 137228537 Baylor RB1 5925 hgsc.bcm.edu GRCh37 13 48937023 48937023 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000267163.4:c.791C>T p.Ala264Val p.A264V ENST00000267163 NM_000321.2 264 gCa/gTa 0 Missense_Mutation C 25 RB1 SNP 13 C T 47835024 47835024 Baylor RCBTB2 1102 hgsc.bcm.edu GRCh37 13 49086005 49086005 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000344532.3:c.684C>T p.Val228= p.V228= ENST00000344532 NM_001268.2 228 gtC/gtT 0 Silent G 33 RCBTB2 SNP 13 G A 47984006 47984006 Baylor REL 5966 hgsc.bcm.edu GRCh37 2 61144022 61144022 + synonymous_variant Silent SNP A A G novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295025.8:c.405A>G p.Lys135= p.K135= ENST00000295025 NM_002908.2 135 aaA/aaG 0 Silent A 2 REL SNP 2 A G 60997526 60997526 Baylor ROS1 6098 hgsc.bcm.edu GRCh37 6 117724350 117724350 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368508.3:c.529C>T p.Gln177Ter p.Q177* ENST00000368508 NM_002944.2 177 Cag/Tag 0 Nonsense_Mutation G 46 ROS1 SNP 6 G A 117831043 117831043 Baylor GPCPD1 56261 hgsc.bcm.edu GRCh37 20 5556594 5556594 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379019.4:c.736G>A p.Asp246Asn p.D246N ENST00000379019 NM_019593.3 246 Gat/Aat 0 Missense_Mutation C 29 RP5-1022P6.2 SNP 20 C T 5504594 5504594 Baylor SLC17A6 57084 hgsc.bcm.edu GRCh37 11 22380986 22380986 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000263160.3:c.486C>T p.Thr162= p.T162= ENST00000263160 NM_020346.2 162 acC/acT 0 Silent C 24 SLC17A6 SNP 11 C T 22337562 22337562 Baylor SLC6A3 6531 hgsc.bcm.edu GRCh37 5 1401057 1401057 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000270349.9:c.1812G>A p.Val604= p.V604= ENST00000270349 NM_001044.4 604 gtG/gtA 0 Silent C 21 SLC6A3 SNP 5 C T 1454057 1454057 Baylor SMOC2 64094 hgsc.bcm.edu GRCh37 6 168927045 168927045 + synonymous_variant Silent SNP C C G novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000354536.5:c.276C>G p.Ala92= p.A92= ENST00000354536 NM_022138.2 92 gcC/gcG 0 Silent C 23 SMOC2 SNP 6 C G 168669894 168669894 Baylor SNTG1 54212 hgsc.bcm.edu GRCh37 8 51449315 51449315 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000522124.1:c.627C>T p.Ile209= p.I209= ENST00000522124 NM_018967.2 209 atC/atT 0 Silent C 30 SNTG1 SNP 8 C T 51611868 51611868 Baylor SNX27 81609 hgsc.bcm.edu GRCh37 1 151630785 151630785 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368843.3:c.618C>G p.Asn206Lys p.N206K ENST00000368843 NM_030918.5 206 aaC/aaG 0 Missense_Mutation C 18 SNX27 SNP 1 C G 149897409 149897409 Baylor SPAG8 26206 hgsc.bcm.edu GRCh37 9 35811022 35811022 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000340291.2:c.897C>A p.Ser299Arg p.S299R ENST00000340291 NM_172312.1 299 agC/agA 0 Missense_Mutation G 46 SPAG8 SNP 9 G T 35801022 35801022 Baylor ST6GALNAC3 256435 hgsc.bcm.edu GRCh37 1 76877830 76877830 + synonymous_variant Silent SNP A A G novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000328299.3:c.351A>G p.Glu117= p.E117= ENST00000328299 NM_152996.2 117 gaA/gaG 0 Silent A 3 ST6GALNAC3 SNP 1 A G 76650418 76650418 Baylor STRN3 29966 hgsc.bcm.edu GRCh37 14 31424863 31424863 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357479.5:c.423G>A p.Leu141= p.L141= ENST00000357479 NM_001083893.1 141 ctG/ctA 0 Silent C 29 STRN3 SNP 14 C T 30494614 30494614 Baylor SYT1 6857 hgsc.bcm.edu GRCh37 12 79679631 79679631 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261205.4:c.231T>C p.Phe77= p.F77= ENST00000261205 NM_005639.2 77 ttT/ttC 0 Silent T 64 SYT1 SNP 12 T C 78203762 78203762 Baylor SYT7 9066 hgsc.bcm.edu GRCh37 11 61286161 61286161 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000540677.1:c.1375T>A p.Trp459Arg p.W459R ENST00000540677 NM_001252065.1 459 Tgg/Agg 0 Missense_Mutation A 7 SYT7 SNP 11 A T 61042737 61042737 Baylor TCP11 6954 hgsc.bcm.edu GRCh37 6 35087098 35087098 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000311875.5:c.1225G>T p.Gly409Cys p.G409C ENST00000311875 409 Ggc/Tgc 0 Missense_Mutation C 22 TCP11 SNP 6 C A 35195076 35195076 Baylor TEKT1 83659 hgsc.bcm.edu GRCh37 17 6722512 6722512 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000338694.2:c.356G>T p.Arg119Met p.R119M ENST00000338694 NM_053285.1 119 aGg/aTg 0 Missense_Mutation C 24 TEKT1 SNP 17 C A 6663236 6663236 Baylor TEX11 56159 hgsc.bcm.edu GRCh37 X 69826842 69826842 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000395889.2:c.1962G>A p.Val654= p.V654= ENST00000395889 NM_001003811.1 654 gtG/gtA 0 Silent C 29 TEX11 SNP 23 C T 69743567 69743567 Baylor TG 7038 hgsc.bcm.edu GRCh37 8 133935682 133935682 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000220616.4:c.4628G>C p.Cys1543Ser p.C1543S ENST00000220616 NM_003235.4 1543 tGt/tCt 0 Missense_Mutation G 48 TG SNP 8 G C 134004864 134004864 Baylor TOMM70A 9868 hgsc.bcm.edu GRCh37 3 100105124 100105124 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000284320.5:c.563A>C p.Lys188Thr p.K188T ENST00000284320 NM_014820.4 188 aAa/aCa 0 Missense_Mutation T 64 TOMM70A SNP 3 T G 101587814 101587814 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577506 7577506 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.775G>T p.Asp259Tyr p.D259Y ENST00000269305 NM_001126112.2 259 Gac/Tac 0 Missense_Mutation C 32 TP53 SNP 17 C A 7518231 7518231 Baylor TTN 7273 hgsc.bcm.edu GRCh37 2 179612521 179612521 + intron_variant Intron SNP G G T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000589042.1:c.11311+5330C>A *3771* ENST00000589042 NM_001267550.1 0 Missense_Mutation G 34 TTN SNP 2 G T 179320766 179320766 Baylor ZCCHC9 84240 hgsc.bcm.edu GRCh37 5 80608438 80608438 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000254037.2:c.773C>T p.Pro258Leu p.P258L ENST00000254037 258 cCg/cTg 0 Missense_Mutation C 23 ZCCHC9 SNP 5 C T 80644194 80644194 Baylor ZEB2 9839 hgsc.bcm.edu GRCh37 2 145156010 145156010 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000558170.2:c.2744C>A p.Thr915Asn p.T915N ENST00000558170 NM_014795.3 915 aCc/aAc 0 Missense_Mutation G 44 ZEB2 SNP 2 G T 144872480 144872480 Baylor ZFYVE26 23503 hgsc.bcm.edu GRCh37 14 68232956 68232956 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000347230.4:c.5999del p.Ala2000ValfsTer10 p.A2000Vfs*10 ENST00000347230 NM_015346.3 2000 gCt/gt 0 Frame_Shift_Del G 34 ZFYVE26 DEL 14 G - 67302709 67302709 Baylor ZFYVE26 23503 hgsc.bcm.edu GRCh37 14 68244362 68244362 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000347230.4:c.4888T>G p.Leu1630Val p.L1630V ENST00000347230 NM_015346.3 1630 Ttg/Gtg 0 Missense_Mutation A 3 ZFYVE26 SNP 14 A C 67314115 67314115 Baylor ZNF211 10520 hgsc.bcm.edu GRCh37 19 58152755 58152755 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000299871.5:c.1096A>C p.Ile366Leu p.I366L ENST00000299871 NM_001265597.1 366 Att/Ctt 0 Missense_Mutation A 8 ZNF211 SNP 19 A C 62844567 62844567 Baylor ZBTB18 10472 hgsc.bcm.edu GRCh37 1 244217166 244217170 + frameshift_variant Frame_Shift_Del DEL TTTTC TTTTC - novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 TTTTC TTTTC . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358704.4:c.93_97del p.Phe31LeufsTer2 p.F31Lfs*2 ENST00000358704 NM_205768.2 30 ggTTTTCtt/ggtt 0 Frame_Shift_Del TTTTC 60 ZNF238 DEL 1 TTTTC - 242283793 242283789 Baylor ZNF333 84449 hgsc.bcm.edu GRCh37 19 14829061 14829061 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000292530.6:c.922A>G p.Lys308Glu p.K308E ENST00000292530 NM_032433.2 308 Aaa/Gaa 0 Missense_Mutation A 1 ZNF333 SNP 19 A G 14690061 14690061 Baylor ZNF500 26048 hgsc.bcm.edu GRCh37 16 4802730 4802730 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000219478.6:c.1090G>A p.Asp364Asn p.D364N ENST00000219478 364 Gac/Aac 0 Missense_Mutation C 31 ZNF500 SNP 16 C T 4742731 4742731 Baylor ZNF563 147837 hgsc.bcm.edu GRCh37 19 12429870 12429870 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000293725.5:c.969C>G p.Ser323Arg p.S323R ENST00000293725 NM_145276.2 323 agC/agG 0 Missense_Mutation G 34 ZNF563 SNP 19 G C 12290870 12290870 Baylor CHAMP1 283489 hgsc.bcm.edu GRCh37 13 115090737 115090737 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01 TCGA-09-1665-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361283.1:c.1420G>C p.Gly474Arg p.G474R ENST00000361283 NM_032436.2 474 Ggt/Cgt 0 Missense_Mutation G 47 ZNF828 SNP 13 G C 114108839 114108839 Baylor HSD3B1 3283 broad.mit.edu GRCh37 1 120056873 120056873 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000369413.3:c.727C>A p.Pro243Thr p.P243T ENST00000369413 243 Ccc/Acc 0 Missense_Mutation C 22 HSD3B1 SNP 1 C A 119858396 119858396 Broad ETV3L 440695 broad.mit.edu GRCh37 1 157069286 157069286 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000454449.2:c.30C>G p.Ile10Met p.I10M ENST00000454449 NM_001004341.2 10 atC/atG 0 Missense_Mutation G 41 ETV3L SNP 1 G C 155335910 155335910 Broad OR10J5 127385 broad.mit.edu GRCh37 1 159505434 159505434 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000334857.2:c.364C>T p.Arg122Cys p.R122C ENST00000334857 NM_001004469.1 122 Cgc/Tgc 0 Missense_Mutation G 39 OR10J5 SNP 1 G A 157772058 157772058 Broad FCGR3A 2214 broad.mit.edu GRCh37 1 161514546 161514546 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000367969.3:c.630G>A p.Gly210= p.G210= ENST00000367969 NM_000569.6 210 ggG/ggA 0 Silent C 26 FCGR3A SNP 1 C T 159781170 159781170 Broad CDH23 64072 broad.mit.edu GRCh37 10 73562832 73562832 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G T novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000398788.3:c.940G>T p.Glu314Ter p.E314* ENST00000398788 NM_001171933.1 314 Gag/Tag 0 Nonsense_Mutation G 43 CDH23 SNP 10 G T 73232838 73232838 Broad TTC17 55761 broad.mit.edu GRCh37 11 43427399 43427399 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000039989.4:c.1659C>T p.Ser553= p.S553= ENST00000039989 NM_018259.5 553 tcC/tcT 0 Silent C 21 TTC17 SNP 11 C T 43383975 43383975 Broad CTSC 1075 broad.mit.edu GRCh37 11 88070831 88070831 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000227266.5:c.10G>T p.Gly4Trp p.G4W ENST00000227266 NM_001814.4 4 Ggg/Tgg 0 Missense_Mutation C 21 CTSC SNP 11 C A 87710479 87710479 Broad OR8G2P 26492 broad.mit.edu GRCh37 11 124095490 124095490 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000366149.3:n.54A>G *18* ENST00000366149 0 Silent A 7 OR8G2 SNP 11 A G 123600700 123600700 Broad KRT6C 286887 broad.mit.edu GRCh37 12 52865203 52865203 + splice_donor_variant Splice_Site SNP A A G novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000252250.6:c.912+2T>C p.X304_splice ENST00000252250 NM_173086.4 0 Splice_Site_SNP A 14 KRT6C SNP 12 A G 51151470 51151470 Broad TMCC3 57458 broad.mit.edu GRCh37 12 94975623 94975623 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000261226.4:c.770G>A p.Cys257Tyr p.C257Y ENST00000261226 NM_020698.2 257 tGt/tAt 0 Missense_Mutation C 17 TMCC3 SNP 12 C T 93499754 93499754 Broad TMEM132D 121256 broad.mit.edu GRCh37 12 130185159 130185159 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000422113.2:c.164A>C p.Asn55Thr p.N55T ENST00000422113 NM_133448.2 55 aAc/aCc 0 Missense_Mutation T 60 TMEM132D SNP 12 T G 128751112 128751112 Broad REM2 161253 broad.mit.edu GRCh37 14 23355338 23355338 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000267396.4:c.625A>G p.Thr209Ala p.T209A ENST00000267396 NM_173527.2 209 Acc/Gcc 0 Missense_Mutation A 10 REM2 SNP 14 A G 22425178 22425178 Broad TJP1 7082 broad.mit.edu GRCh37 15 30025330 30025330 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000346128.6:c.1704G>A p.Glu568= p.E568= ENST00000346128 NM_175610.2 568 gaG/gaA 0 Silent C 24 TJP1 SNP 15 C T 27812622 27812622 Broad RTF1 23168 broad.mit.edu GRCh37 15 41767963 41767963 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000389629.4:c.1428A>G p.Glu476= p.E476= ENST00000389629 NM_015138.4 476 gaA/gaG 0 Silent A 4 RTF1 SNP 15 A G 39555255 39555255 Broad HYDIN 54768 broad.mit.edu GRCh37 16 70908489 70908489 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000393567.2:c.10667A>G p.Lys3556Arg p.K3556R ENST00000393567 NM_001270974.1 3556 aAa/aGa 0 Missense_Mutation T 64 HYDIN SNP 16 T C 69465990 69465990 Broad TP53 7157 broad.mit.edu GRCh37 17 7577153 7577153 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.785G>T p.Gly262Val p.G262V ENST00000269305 NM_001126112.2 262 gGt/gTt 0 Missense_Mutation C 18 TP53 SNP 17 C A 7517878 7517878 Broad ADORA2B 136 broad.mit.edu GRCh37 17 15878601 15878601 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000304222.2:c.944T>G p.Val315Gly p.V315G ENST00000304222 NM_000676.2 315 gTc/gGc 0 Missense_Mutation T 58 ADORA2B SNP 17 T G 15819326 15819326 Broad OTOP2 92736 broad.mit.edu GRCh37 17 72927062 72927062 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000331427.4:c.1332A>T p.Gln444His p.Q444H ENST00000331427 NM_178160.2 444 caA/caT 0 Missense_Mutation A 3 OTOP2 SNP 17 A T 70438657 70438657 Broad CASKIN2 57513 broad.mit.edu GRCh37 17 73501110 73501110 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000321617.3:c.975C>T p.His325= p.H325= ENST00000321617 NM_020753.4 325 caC/caT 0 Silent G 40 CASKIN2 SNP 17 G A 71012705 71012705 Broad B3GNTL1 146712 broad.mit.edu GRCh37 17 81006596 81006596 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000320865.3:c.126A>G p.Gln42= p.Q42= ENST00000320865 NM_001009905.1 42 caA/caG 0 Silent T 60 B3GNTL1 SNP 17 T C 78599885 78599885 Broad MUC16 94025 broad.mit.edu GRCh37 19 9085170 9085170 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000397910.4:c.6645A>G p.Thr2215= p.T2215= ENST00000397910 NM_024690.2 2215 acA/acG 0 Silent T 55 MUC16 SNP 19 T C 8946170 8946170 Broad FOXA3 3171 broad.mit.edu GRCh37 19 46376055 46376055 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000302177.2:c.792C>T p.Gly264= p.G264= ENST00000302177 NM_004497.2 264 ggC/ggT 0 Silent C 27 FOXA3 SNP 19 C T 51067895 51067895 Broad ZNF665 79788 broad.mit.edu GRCh37 19 53669371 53669371 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000396424.3:c.372A>T p.Arg124Ser p.R124S ENST00000396424 NM_024733.3 124 agA/agT 0 Missense_Mutation T 54 ZNF665 SNP 19 T A 58361183 58361183 Broad SULT6B1 391365 broad.mit.edu GRCh37 2 37415665 37415665 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000260637.3:c.5G>A p.Cys2Tyr p.C2Y ENST00000260637 NM_001032377.1 2 tGc/tAc 0 Missense_Mutation C 25 SULT6B1 SNP 2 C T 37269169 37269169 Broad RMDN2 151393 broad.mit.edu GRCh37 2 38179075 38179075 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000234195.3:c.717C>A p.Gly239= p.G239= ENST00000234195 NM_144713.3 239 ggC/ggA 0 Silent C 26 FAM82A1 SNP 2 C A 38032579 38032579 Broad CNOT11 55571 broad.mit.edu GRCh37 2 101869724 101869724 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000289382.3:c.298G>C p.Asp100His p.D100H ENST00000289382 NM_017546.4 100 Gac/Cac 0 Missense_Mutation G 37 C2orf29 SNP 2 G C 101236156 101236156 Broad GTF3C3 9330 broad.mit.edu GRCh37 2 197639861 197639861 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000263956.3:c.1810T>C p.Ser604Pro p.S604P ENST00000263956 NM_012086.4 604 Tca/Cca 0 Missense_Mutation A 10 GTF3C3 SNP 2 A G 197348106 197348106 Broad CDH22 64405 broad.mit.edu GRCh37 20 44841655 44841655 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000372262.3:c.1011G>A p.Glu337= p.E337= ENST00000372262 337 gaG/gaA 0 Silent C 24 CDH22 SNP 20 C T 44275062 44275062 Broad SALL4 57167 broad.mit.edu GRCh37 20 50407414 50407414 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000217086.4:c.1608C>G p.Phe536Leu p.F536L ENST00000217086 NM_020436.3 536 ttC/ttG 0 Missense_Mutation G 41 SALL4 SNP 20 G C 49840821 49840821 Broad RRP1B 23076 broad.mit.edu GRCh37 21 45113203 45113204 + missense_variant Missense_Mutation DNP TG TG AA novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000340648.4:c.2216_2217delinsAA p.Val739Glu p.V739E ENST00000340648 NM_015056.2 739 gTG/gAA 0 Missense_Mutation TG 59 RRP1B DNP 21 TG AA 43937632 43937631 Broad RASL10A 10633 broad.mit.edu GRCh37 22 29708242 29708242 + downstream_gene_variant 3'Flank SNP C C G novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000216101 NM_006477.4 0 Missense_Mutation C 30 GAS2L1 SNP 22 C G 28038242 28038242 Broad ATRIP 84126 broad.mit.edu GRCh37 3 48506406 48506406 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000320211.3:c.2232C>T p.Val744= p.V744= ENST00000320211 NM_130384.2 744 gtC/gtT 0 Silent C 30 ATRIP SNP 3 C T 48481410 48481410 Broad CACNA1D 776 broad.mit.edu GRCh37 3 53835308 53835308 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000288139.4:c.5324A>C p.Asn1775Thr p.N1775T ENST00000288139 NM_000720.3 1775 aAt/aCt 0 Missense_Mutation A 4 CACNA1D SNP 3 A C 53810348 53810348 Broad CNTN3 5067 broad.mit.edu GRCh37 3 74347174 74347174 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000263665.6:c.2335G>C p.Gly779Arg p.G779R ENST00000263665 NM_020872.1 779 Ggt/Cgt 0 Missense_Mutation C 22 CNTN3 SNP 3 C G 74429864 74429864 Broad PCDHA7 56141 broad.mit.edu GRCh37 5 140214056 140214056 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000525929.1:c.88C>T p.Gln30Ter p.Q30* ENST00000525929 NM_018910.2 30 Cag/Tag 0 Nonsense_Mutation C 21 PCDHA7 SNP 5 C T 140194240 140194240 Broad NOP16 51491 broad.mit.edu GRCh37 5 175811237 175811237 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000510123.1:c.441G>T p.Trp147Cys p.W147C ENST00000510123 NM_001256539.1 147 tgG/tgT 0 Nonsense_Mutation C 30 NOP16 SNP 5 C A 175743843 175743843 Broad ZNF76 7629 broad.mit.edu GRCh37 6 35262338 35262339 + missense_variant Missense_Mutation DNP GC GC AA novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000373953.3:c.1600_1601delinsAA p.Ala534Lys p.A534K ENST00000373953 NM_003427.3 534 GCa/AAa 0 Missense_Mutation GC 46 ZNF76 DNP 6 GC AA 35370317 35370316 Broad DDX43 55510 broad.mit.edu GRCh37 6 74125223 74125223 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000370336.4:c.1749G>C p.Arg583Ser p.R583S ENST00000370336 NM_018665.2 583 agG/agC 0 Missense_Mutation G 41 DDX43 SNP 6 G C 74181944 74181944 Broad COL12A1 1303 broad.mit.edu GRCh37 6 75838022 75838022 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000322507.8:c.6330T>C p.Asn2110= p.N2110= ENST00000322507 NM_004370.5 2110 aaT/aaC 0 Silent A 8 COL12A1 SNP 6 A G 75894742 75894742 Broad LTV1 84946 broad.mit.edu GRCh37 6 144171287 144171287 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000367576.5:c.329C>A p.Pro110His p.P110H ENST00000367576 NM_032860.3 110 cCt/cAt 0 Missense_Mutation C 24 LTV1 SNP 6 C A 144212980 144212980 Broad ZNF479 90827 broad.mit.edu GRCh37 7 57188623 57188623 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000331162.4:c.499G>C p.Gly167Arg p.G167R ENST00000331162 NM_033273.1 167 Ggt/Cgt 0 Missense_Mutation C 21 ZNF479 SNP 7 C G 57192565 57192565 Broad MUC17 140453 broad.mit.edu GRCh37 7 100675089 100675089 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000306151.4:c.392G>C p.Ser131Thr p.S131T ENST00000306151 NM_001040105.1 131 aGt/aCt 0 Missense_Mutation G 36 MUC17 SNP 7 G C 100461809 100461809 Broad FAM180A 389558 broad.mit.edu GRCh37 7 135418866 135418866 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000338588.3:c.379G>A p.Val127Met p.V127M ENST00000338588 NM_205855.3 127 Gtg/Atg 0 Missense_Mutation C 20 FAM180A SNP 7 C T 135069406 135069406 Broad NPBWR1 2831 broad.mit.edu GRCh37 8 53853430 53853430 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000331251.3:c.963G>A p.Leu321= p.L321= ENST00000331251 NM_005285.3 321 ctG/ctA 0 Silent G 45 NPBWR1 SNP 8 G A 54015983 54015983 Broad WDYHV1 55093 broad.mit.edu GRCh37 8 124448697 124448697 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000287387.2:c.239A>T p.Tyr80Phe p.Y80F ENST00000287387 NM_018024.1 80 tAc/tTc 0 Missense_Mutation A 14 WDYHV1 SNP 8 A T 124517878 124517878 Broad ANXA13 312 broad.mit.edu GRCh37 8 124696890 124696890 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000262219.6:c.914A>G p.Asp305Gly p.D305G ENST00000262219 NM_001003954.1 305 gAt/gGt 0 Missense_Mutation T 50 ANXA13 SNP 8 T C 124766071 124766071 Broad CDKL5 6792 broad.mit.edu GRCh37 X 18664168 18664168 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000379989.3:c.2755C>A p.Pro919Thr p.P919T ENST00000379989 NM_001037343.1 919 Ccc/Acc 0 Missense_Mutation C 18 CDKL5 SNP 23 C A 18574089 18574089 Broad SLC38A5 92745 broad.mit.edu GRCh37 X 48318131 48318131 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000376876.3:c.1200C>G p.Ile400Met p.I400M ENST00000376876 400 atC/atG 0 Missense_Mutation G 33 SLC38A5 SNP 23 G C 48203075 48203075 Broad CYSLTR1 10800 broad.mit.edu GRCh37 X 77528369 77528369 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000373304.3:c.875C>G p.Pro292Arg p.P292R ENST00000373304 NM_001282188.1 292 cCt/cGt 0 Missense_Mutation G 35 CYSLTR1 SNP 23 G C 77415025 77415025 Broad TCEAL1 9338 broad.mit.edu GRCh37 X 102884961 102884961 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000372625.3:c.117G>A p.Ser39= p.S39= ENST00000372625 NM_004780.2 39 tcG/tcA 0 Silent G 39 TCEAL1 SNP 23 G A 102771617 102771617 Broad IRS4 8471 broad.mit.edu GRCh37 X 107979367 107979367 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000372129.2:c.208G>T p.Glu70Ter p.E70* ENST00000372129 NM_003604.2 70 Gag/Tag 0 Nonsense_Mutation C 32 IRS4 SNP 23 C A 107866023 107866023 Broad HCFC1 3054 broad.mit.edu GRCh37 X 153222426 153222426 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown x x x ENST00000310441.7:c.2439A>T p.Lys813Asn p.K813N ENST00000310441 NM_005334.2 813 aaA/aaT 0 Missense_Mutation T 64 HCFC1 SNP 23 T A 152875620 152875620 Broad C1orf146 388649 broad.mit.edu GRCh37 1 92711188 92711218 + frameshift_variant Frame_Shift_Del DEL TTCAGAAGATAAAACTGAATAGTGATTCAGT TTCAGAAGATAAAACTGAATAGTGATTCAGT - novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000370375.3:c.501_531del p.Gln168ThrfsTer8 p.Q168Tfs*8 ENST00000370375 NM_001012425.1 167 cTTCAGAAGATAAAACTGAATAGTGATTCAGTt/ct 0 Frame_Shift_Del TTCAGAAGATAAAACTGAATAGTGATTCAGT 56 C1orf146 DEL 1 - TTCAGAAGATAAAACTGAATAGTGATTCAGT 92483806 92483776 Broad HKDC1 80201 broad.mit.edu GRCh37 10 71008231 71008241 + frameshift_variant Frame_Shift_Del DEL TGTCCGCTTCC TGTCCGCTTCC - novel Unknown TCGA-23-2081-01 TCGA-23-2081-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000354624.5:c.1318_1328del p.Val440ProfsTer51 p.V440Pfs*51 ENST00000354624 NM_025130.3 439 gaTGTCCGCTTCCtc/gatc 0 Frame_Shift_Del TGTCCGCTTCC 51 HKDC1 DEL 10 - TGTCCGCTTCC 70678247 70678237 Broad OR51A4 401666 genome.wustl.edu GRCh37 11 4967682 4967682 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380373.2:c.649G>T p.Val217Leu p.V217L ENST00000380373 NM_001005329.1 217 Gtg/Ttg 0 Missense_Mutation C 17 OR51A4 SNP 11 C A 4924258 4924258 WashU EMR1 2015 genome.wustl.edu GRCh37 19 6926553 6926553 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312053.4:c.2163G>A p.Pro721= p.P721= ENST00000312053 NM_001974.4 721 ccG/ccA 0 Silent G 37 EMR1 SNP 19 G A 6877553 6877553 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578535 7578535 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.395A>T p.Lys132Met p.K132M ENST00000269305 NM_001126112.2 132 aAg/aTg 0 Missense_Mutation T 56 TP53 SNP 17 A A 7519260 7519260 WashU PNPLA6 10908 genome.wustl.edu GRCh37 19 7614842 7614842 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000414982.3:c.1685G>A p.Arg562His p.R562H ENST00000414982 NM_001166111.1 562 cGc/cAc 0 Missense_Mutation G 38 PNPLA6 SNP 19 G A 7520842 7520842 WashU C19orf57 79173 genome.wustl.edu GRCh37 19 14006340 14006340 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000346736.2:c.51A>C p.Pro17= p.P17= ENST00000346736 NM_024323.3 17 ccA/ccC 0 Silent T 63 C19orf57 SNP 19 T G 13867340 13867340 WashU NBAS 51594 genome.wustl.edu GRCh37 2 15564502 15564502 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000281513.5:c.2514G>C p.Thr838= p.T838= ENST00000281513 NM_015909.3 838 acG/acC 0 Silent C 23 NBAS SNP 2 C G 15481953 15481953 WashU SPEN 23013 genome.wustl.edu GRCh37 1 16200828 16200828 + intron_variant Intron SNP T T C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375759.3:c.404+1197T>C *135* ENST00000375759 NM_015001.2 0 Silent T 51 SPEN SNP 1 T C 16073415 16073415 WashU ZNF493 284443 genome.wustl.edu GRCh37 19 21607383 21607383 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392288.2:c.1922C>A p.Ser641Tyr p.S641Y ENST00000392288 NM_001076678.2 641 tCc/tAc 0 Missense_Mutation C 30 ZNF493 SNP 19 C A 21399223 21399223 WashU HERC2 8924 genome.wustl.edu GRCh37 15 28437274 28437274 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261609.7:c.8284C>G p.Arg2762Gly p.R2762G ENST00000261609 NM_004667.5 2762 Cgt/Ggt 0 Missense_Mutation G 39 HERC2 SNP 15 G C 26110869 26110869 WashU DMD 1756 genome.wustl.edu GRCh37 X 32663206 32663206 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357033.4:c.1024G>A p.Asp342Asn p.D342N ENST00000357033 NM_004007.2 342 Gac/Aac 0 Missense_Mutation C 30 DMD SNP 23 C T 32573127 32573127 WashU RPN2 6185 genome.wustl.edu GRCh37 20 35862472 35862472 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000237530.6:c.1727C>T p.Thr576Met p.T576M ENST00000237530 NM_002951.3 576 aCg/aTg 0 Missense_Mutation C 19 RPN2 SNP 20 C T 35295886 35295886 WashU TGM2 7052 genome.wustl.edu GRCh37 20 36779362 36779362 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000361475.2:c.531C>T p.Asn177= p.N177= ENST00000361475 NM_004613.2 177 aaC/aaT 0 Silent G 48 TGM2 SNP 20 G A 36212776 36212776 WashU CEP89 84902 genome.wustl.edu GRCh37 19 33424370 33424370 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000305768.5:c.873G>A p.Ala291= p.A291= ENST00000305768 NM_032816.3 291 gcG/gcA 0 Silent C 19 CCDC123 SNP 19 C T 38116210 38116210 WashU DNAH8 1769 genome.wustl.edu GRCh37 6 38877311 38877311 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359357.3:c.8880T>C p.Arg2960= p.R2960= ENST00000359357 2960 cgT/cgC 0 Silent T 59 DNAH8 SNP 6 T C 38985289 38985289 WashU PTPRT 11122 genome.wustl.edu GRCh37 20 41306562 41306562 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373198.4:c.1097G>T p.Gly366Val p.G366V ENST00000373198 NM_133170.3 366 gGt/gTt 0 Missense_Mutation C 18 PTPRT SNP 20 C A 40739976 40739976 WashU TOX2 84969 genome.wustl.edu GRCh37 20 42693489 42693489 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341197.4:c.952G>A p.Val318Ile p.V318I ENST00000341197 NM_001098797.1 318 Gtc/Atc 0 Missense_Mutation G 40 TOX2 SNP 20 G A 42126903 42126903 WashU BMS1 9790 genome.wustl.edu GRCh37 10 43325850 43325850 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000374518.5:c.3598C>G p.Arg1200Gly p.R1200G ENST00000374518 NM_014753.3 1200 Cgc/Ggc 0 Missense_Mutation C 19 BMS1 SNP 10 C G 42645856 42645856 WashU SLC28A2 9153 genome.wustl.edu GRCh37 15 45555371 45555371 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000347644.3:c.375G>C p.Lys125Asn p.K125N ENST00000347644 NM_004212.3 125 aaG/aaC 0 Missense_Mutation G 34 SLC28A2 SNP 15 G C 43342663 43342663 WashU PRR15L 79170 genome.wustl.edu GRCh37 17 46030313 46030313 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300557.2:c.288C>G p.His96Gln p.H96Q ENST00000300557 NM_024320.3 96 caC/caG 0 Missense_Mutation G 40 PRR15L SNP 17 G C 43385312 43385312 WashU HECW1 23072 genome.wustl.edu GRCh37 7 43591887 43591887 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395891.2:c.4462G>A p.Ala1488Thr p.A1488T ENST00000395891 NM_015052.3 1488 Gcg/Acg 0 Missense_Mutation G 38 HECW1 SNP 7 G A 43558412 43558412 WashU CYP2A7P1 1550 genome.wustl.edu GRCh37 19 41533097 41533097 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000595391.1:n.246G>A *82* ENST00000595391 0 Missense_Mutation C 29 CYP2A7P1 SNP 19 C T 46224937 46224937 WashU CYP2A7P1 1550 genome.wustl.edu GRCh37 19 41533544 41533544 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000595391.1:n.82G>A *28* ENST00000595391 0 Silent C 32 CYP2A7P1 SNP 19 C T 46225384 46225384 WashU ZNF674 641339 genome.wustl.edu GRCh37 X 46360298 46360298 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000523374.1:c.726T>A p.His242Gln p.H242Q ENST00000523374 NM_001039891.2 242 caT/caA 0 Missense_Mutation A 12 ZNF674 SNP 23 A T 46245242 46245242 WashU LARP4 113251 genome.wustl.edu GRCh37 12 50860751 50860751 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398473.2:c.1393C>T p.Pro465Ser p.P465S ENST00000398473 NM_199188.2 465 Cct/Tct 0 Missense_Mutation C 30 LARP4 SNP 12 C T 49147018 49147018 WashU CEACAM16 388551 genome.wustl.edu GRCh37 19 45202714 45202714 + intron_variant Intron SNP G G C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000587331.1:c.-97+175G>C *33* ENST00000587331 NM_001039213.2 0 Missense_Mutation G 45 CEACAM16 SNP 19 G C 49894554 49894554 WashU ITGA7 3679 genome.wustl.edu GRCh37 12 56086982 56086982 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000553804.1:c.2667C>T p.Gly889= p.G889= ENST00000553804 NM_001144996.1 889 ggC/ggT 0 Silent G 38 ITGA7 SNP 12 G A 54373249 54373249 WashU MYBPC2 4606 genome.wustl.edu GRCh37 19 50939920 50939920 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357701.5:c.392G>A p.Arg131His p.R131H ENST00000357701 NM_004533.3 131 cGt/cAt 0 Missense_Mutation G 40 MYBPC2 SNP 19 G A 55631732 55631732 WashU ZNF614 80110 genome.wustl.edu GRCh37 19 52519347 52519347 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270649.6:c.1504C>T p.Gln502Ter p.Q502* ENST00000270649 NM_025040.3 502 Cag/Tag 0 Nonsense_Mutation G 45 ZNF614 SNP 19 G A 57211159 57211159 WashU ZNF614 80110 genome.wustl.edu GRCh37 19 52519422 52519422 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270649.6:c.1429C>T p.His477Tyr p.H477Y ENST00000270649 NM_025040.3 477 Cat/Tat 0 Missense_Mutation G 45 ZNF614 SNP 19 G A 57211234 57211234 WashU ZNF614 80110 genome.wustl.edu GRCh37 19 52519695 52519695 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270649.6:c.1156C>G p.Leu386Val p.L386V ENST00000270649 NM_025040.3 386 Ctc/Gtc 0 Missense_Mutation G 33 ZNF614 SNP 19 G C 57211507 57211507 WashU ZNF614 80110 genome.wustl.edu GRCh37 19 52519779 52519779 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270649.6:c.1072C>G p.Leu358Val p.L358V ENST00000270649 NM_025040.3 358 Ctt/Gtt 0 Missense_Mutation G 33 ZNF614 SNP 19 G C 57211591 57211591 WashU ZNF614 80110 genome.wustl.edu GRCh37 19 52520435 52520435 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270649.6:c.416C>G p.Ser139Ter p.S139* ENST00000270649 NM_025040.3 139 tCa/tGa 0 Nonsense_Mutation G 45 ZNF614 SNP 19 G C 57212247 57212247 WashU ZNF614 80110 genome.wustl.edu GRCh37 19 52520559 52520559 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270649.6:c.292C>T p.Leu98= p.L98= ENST00000270649 NM_025040.3 98 Ctg/Ttg 0 Silent G 33 ZNF614 SNP 19 G A 57212371 57212371 WashU TCIRG1 10312 genome.wustl.edu GRCh37 11 67815137 67815137 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265686.3:c.1329C>A p.Gly443= p.G443= ENST00000265686 NM_006019.3 443 ggC/ggA 0 Silent C 26 TCIRG1 SNP 11 C A 67571713 67571713 WashU RAB41 347517 genome.wustl.edu GRCh37 X 69502164 69502164 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276066.4:c.97A>G p.Lys33Glu p.K33E ENST00000276066 NM_001032726.2 33 Aaa/Gaa 0 Missense_Mutation A 13 RAB41 SNP 23 A G 69418889 69418889 WashU LGR5 8549 genome.wustl.edu GRCh37 12 71977930 71977930 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000266674.5:c.2140C>A p.Pro714Thr p.P714T ENST00000266674 NM_001277226.1 714 Cct/Act 0 Missense_Mutation C 26 LGR5 SNP 12 C A 70264197 70264197 WashU LLGL2 3993 genome.wustl.edu GRCh37 17 73555350 73555350 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392550.3:c.389C>G p.Thr130Arg p.T130R ENST00000392550 NM_001031803.1 130 aCa/aGa 0 Missense_Mutation C 17 LLGL2 SNP 17 C G 71066945 71066945 WashU TPI1P1 genome.wustl.edu GRCh37 1 77165736 77165736 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000420977.1:n.263G>A *88* ENST00000420977 0 Missense_Mutation G 33 LOC729708 SNP 1 G A 76938324 76938324 WashU HTR1F 3355 genome.wustl.edu GRCh37 3 88040208 88040208 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319595.4:c.309C>A p.Asp103Glu p.D103E ENST00000319595 NM_000866.3 103 gaC/gaA 0 Missense_Mutation C 17 HTR1F SNP 3 C A 88122898 88122898 WashU DCT 1638 genome.wustl.edu GRCh37 13 95131316 95131316 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000446125.1:c.194G>C p.Arg65Pro p.R65P ENST00000446125 NM_001129889.1 65 cGa/cCa 0 Missense_Mutation C 31 DCT SNP 13 C G 93929317 93929317 WashU MUC17 140453 genome.wustl.edu GRCh37 7 100676761 100676761 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000306151.4:c.2064T>C p.Thr688= p.T688= ENST00000306151 NM_001040105.1 688 acT/acC 0 Silent T 54 MUC17 SNP 7 T C 100463481 100463481 WashU AHNAK2 113146 genome.wustl.edu GRCh37 14 105412703 105412703 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000333244.5:c.9085G>C p.Glu3029Gln p.E3029Q ENST00000333244 NM_138420.2 3029 Gag/Cag 0 Missense_Mutation C 29 AHNAK2 SNP 14 C G 104483748 104483748 WashU FKTN 2218 genome.wustl.edu GRCh37 9 108377632 108377632 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000223528.2:c.854C>T p.Ala285Val p.A285V ENST00000223528 NM_006731.2 285 gCg/gTg 0 Missense_Mutation C 27 FKTN SNP 9 C T 107417453 107417453 WashU PRPF4BP1 653155 genome.wustl.edu GRCh37 X 115882798 115882798 + non_coding_transcript_exon_variant RNA SNP C C G novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000432026.1:n.48G>C *16* ENST00000432026 0 Missense_Mutation C 25 LOC653155 SNP 23 C G 115766826 115766826 WashU FRK 2444 genome.wustl.edu GRCh37 6 116263645 116263645 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000606080.1:c.1450C>T p.Arg484Cys p.R484C ENST00000606080 NM_002031.2 484 Cgt/Tgt 0 Missense_Mutation G 38 FRK SNP 6 G A 116370338 116370338 WashU CFTR 1080 genome.wustl.edu GRCh37 7 117171002 117171002 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000003084.6:c.323C>A p.Ser108Tyr p.S108Y ENST00000003084 NM_000492.3 108 tCc/tAc 0 Missense_Mutation C 30 CFTR SNP 7 C A 116958238 116958238 WashU HINFP 25988 genome.wustl.edu GRCh37 11 119001461 119001461 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000350777.2:c.208G>C p.Glu70Gln p.E70Q ENST00000350777 NM_198971.2 70 Gaa/Caa 0 Missense_Mutation G 41 HINFP SNP 11 G C 118506671 118506671 WashU AIFM1 9131 genome.wustl.edu GRCh37 X 129271123 129271123 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287295.3:c.1005C>G p.Pro335= p.P335= ENST00000287295 NM_004208.3 335 ccC/ccG 0 Silent G 39 AIFM1 SNP 23 G C 129098804 129098804 WashU RBMX 27316 genome.wustl.edu GRCh37 X 135957727 135957727 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000320676.7:c.559A>G p.Arg187Gly p.R187G ENST00000320676 NM_002139.3 187 Aga/Gga 0 Missense_Mutation T 56 RBMX SNP 23 T C 135785393 135785393 WashU COL22A1 169044 genome.wustl.edu GRCh37 8 139658913 139658913 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303045.6:c.3460C>T p.Pro1154Ser p.P1154S ENST00000303045 NM_152888.1 1154 Cct/Tct 0 Missense_Mutation G 42 COL22A1 SNP 8 G A 139728095 139728095 WashU SLC25A2 83884 genome.wustl.edu GRCh37 5 140683317 140683317 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000239451.4:c.116C>T p.Thr39Met p.T39M ENST00000239451 NM_031947.2 39 aCg/aTg 0 Missense_Mutation G 40 SLC25A2 SNP 5 G A 140663501 140663501 WashU ATR 545 genome.wustl.edu GRCh37 3 142180841 142180841 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000350721.4:c.7133A>T p.Glu2378Val p.E2378V ENST00000350721 NM_001184.3 2378 gAa/gTa 0 Missense_Mutation T 62 ATR SNP 3 T A 143663531 143663531 WashU PI4KB 5298 genome.wustl.edu GRCh37 1 151288458 151288458 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368875.2:c.536T>G p.Phe179Cys p.F179C ENST00000368875 NM_002651.2 179 tTt/tGt 0 Missense_Mutation A 1 PI4KB SNP 1 A C 149555082 149555082 WashU PIK3CA 5290 genome.wustl.edu GRCh37 3 178936091 178936091 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263967.3:c.1633G>A p.Glu545Lys p.E545K ENST00000263967 NM_006218.2 545 Gag/Aag 0 Missense_Mutation G 45 PIK3CA SNP 3 G A 180418785 180418785 WashU NUAK2 81788 genome.wustl.edu GRCh37 1 205273313 205273313 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367157.3:c.1152C>T p.Ala384= p.A384= ENST00000367157 NM_030952.1 384 gcC/gcT 0 Silent G 43 NUAK2 SNP 1 G A 203539936 203539936 WashU SERPINE2 5270 genome.wustl.edu GRCh37 2 224862979 224862979 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000447280.2:c.376G>A p.Val126Met p.V126M ENST00000447280 NM_001136530.1 126 Gtg/Atg 0 Missense_Mutation C 19 SERPINE2 SNP 2 C T 224571223 224571223 WashU ANKMY1 51281 genome.wustl.edu GRCh37 2 241463718 241463718 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000391987.1:c.1149G>A p.Val383= p.V383= ENST00000391987 383 gtG/gtA 0 Silent C 29 ANKMY1 SNP 2 C T 241112391 241112391 WashU C1orf194 127003 genome.wustl.edu GRCh37 1 109656260 109656260 + missense_variant Missense_Mutation SNP C C A Unknown TCGA-13-0800-01 TCGA-13-0800-10 C C C A C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000369949.4:c.40G>T p.Ala14Ser p.A14S ENST00000369949 NM_001122961.1 14 Gcc/Tcc 0 Missense_Mutation C 26 C1orf194 SNP 1 C A 109457783 109457783 WashU LMNA 4000 genome.wustl.edu GRCh37 1 156104308 156104308 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368300.4:c.628A>G p.Ile210Val p.I210V ENST00000368300 NM_170707.3 210 Atc/Gtc 0 Missense_Mutation A 8 LMNA SNP 1 A G 154370932 154370932 WashU ZNF614 80110 genome.wustl.edu GRCh37 19 52519263 52519263 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270649.6:c.1588C>T p.Gln530Ter p.Q530* ENST00000270649 NM_025040.3 530 Caa/Taa 0 Nonsense_Mutation G 45 ZNF614 SNP 19 G A 57211075 57211075 WashU ZNF614 80110 genome.wustl.edu GRCh37 19 52519273 52519273 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270649.6:c.1578C>T p.Leu526= p.L526= ENST00000270649 NM_025040.3 526 ctC/ctT 0 Silent G 45 ZNF614 SNP 19 G A 57211085 57211085 WashU ZNF614 80110 genome.wustl.edu GRCh37 19 52519611 52519611 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270649.6:c.1240C>T p.Leu414Phe p.L414F ENST00000270649 NM_025040.3 414 Ctc/Ttc 0 Missense_Mutation G 33 ZNF614 SNP 19 G A 57211423 57211423 WashU ZNF614 80110 genome.wustl.edu GRCh37 19 52519621 52519621 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270649.6:c.1230C>G p.Val410= p.V410= ENST00000270649 NM_025040.3 410 gtC/gtG 0 Silent G 45 ZNF614 SNP 19 G C 57211433 57211433 WashU ZNF614 80110 genome.wustl.edu GRCh37 19 52519627 52519627 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270649.6:c.1224C>T p.Phe408= p.F408= ENST00000270649 NM_025040.3 408 ttC/ttT 0 Silent G 45 ZNF614 SNP 19 G A 57211439 57211439 WashU ZNF614 80110 genome.wustl.edu GRCh37 19 52519842 52519842 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270649.6:c.1009C>G p.His337Asp p.H337D ENST00000270649 NM_025040.3 337 Cat/Gat 0 Missense_Mutation G 45 ZNF614 SNP 19 G C 57211654 57211654 WashU ZNF614 80110 genome.wustl.edu GRCh37 19 52519861 52519861 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0800-01 TCGA-13-0800-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270649.6:c.990C>G p.Leu330= p.L330= ENST00000270649 NM_025040.3 330 ctC/ctG 0 Silent G 45 ZNF614 SNP 19 G C 57211673 57211673 WashU CALCR 799 genome.wustl.edu GRCh37 7 93055878 93055878 + missense_variant Missense_Mutation SNP T T A Unknown TCGA-13-0800-01 TCGA-13-0800-10 T T T A T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000359558.2:c.1317A>T p.Gln439His p.Q439H ENST00000359558 NM_001164737.1 439 caA/caT 0 Missense_Mutation T 52 CALCR SNP 7 T A 92893814 92893814 WashU NXN 64359 genome.wustl.edu GRCh37 17 725672 725672 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336868.3:c.638G>A p.Arg213Gln p.R213Q ENST00000336868 NM_022463.4 213 cGg/cAg 0 Missense_Mutation C 23 NXN SNP 17 C T 672422 672422 WashU OR51E2 81285 genome.wustl.edu GRCh37 11 4703040 4703040 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396950.3:c.902G>T p.Arg301Leu p.R301L ENST00000396950 NM_030774.3 301 cGg/cTg 0 Missense_Mutation C 23 OR51E2 SNP 11 C A 4659616 4659616 WashU RANBP6 26953 genome.wustl.edu GRCh37 9 6015291 6015291 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000259569.5:c.317A>G p.Lys106Arg p.K106R ENST00000259569 NM_012416.3 106 aAg/aGg 0 Missense_Mutation T 56 RANBP6 SNP 9 T C 6005291 6005291 WashU SLC16A11 162515 genome.wustl.edu GRCh37 17 6945155 6945155 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308009.1:c.1259G>T p.Ser420Ile p.S420I ENST00000308009 NM_153357.1 420 aGc/aTc 0 Missense_Mutation C 28 SLC16A11 SNP 17 C A 6885879 6885879 WashU ACSM4 341392 genome.wustl.edu GRCh37 12 7456964 7456964 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399422.4:c.37A>T p.Ile13Phe p.I13F ENST00000399422 NM_001080454.1 13 Atc/Ttc 0 Missense_Mutation A 8 ACSM4 SNP 12 A T 7348231 7348231 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578440 7578440 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.490A>G p.Lys164Glu p.K164E ENST00000269305 NM_001126112.2 164 Aag/Gag 0 Missense_Mutation T 63 TP53 SNP 17 C C 7519165 7519165 WashU SOGA2 23255 genome.wustl.edu GRCh37 18 8784735 8784735 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359865.3:c.1625C>A p.Pro542His p.P542H ENST00000359865 NM_015210.3 542 cCc/cAc 0 Missense_Mutation C 22 KIAA0802 SNP 18 C A 8774735 8774735 WashU OR7D2 162998 genome.wustl.edu GRCh37 19 9296785 9296785 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344248.2:c.328C>G p.Leu110Val p.L110V ENST00000344248 NM_175883.2 110 Ctg/Gtg 0 Missense_Mutation C 32 OR7D2 SNP 19 C G 9157785 9157785 WashU FRMPD4 9758 genome.wustl.edu GRCh37 X 12738746 12738746 + 3_prime_UTR_variant 3'UTR SNP T T C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380682.1:c.*94T>C *32* ENST00000380682 NM_014728.3 0 Missense_Mutation T 52 FRMPD4 SNP 23 T C 12648667 12648667 WashU XKR3 150165 genome.wustl.edu GRCh37 22 17265233 17265233 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331428.5:c.656T>C p.Ile219Thr p.I219T ENST00000331428 NM_175878.3 219 aTc/aCc 0 Missense_Mutation A 12 XKR3 SNP 22 A G 15645233 15645233 WashU CYP4F12 66002 genome.wustl.edu GRCh37 19 15793204 15793204 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000550308.1:c.531G>T p.Lys177Asn p.K177N ENST00000550308 NM_023944.3 177 aaG/aaT 0 Missense_Mutation G 36 CYP4F12 SNP 19 G T 15654204 15654204 WashU ADORA2B 136 genome.wustl.edu GRCh37 17 15878585 15878585 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304222.2:c.928C>T p.Leu310Phe p.L310F ENST00000304222 NM_000676.2 310 Ctc/Ttc 0 Missense_Mutation C 32 ADORA2B SNP 17 C T 15819310 15819310 WashU PIK3C2A 5286 genome.wustl.edu GRCh37 11 17172172 17172172 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265970.7:c.1200C>G p.His400Gln p.H400Q ENST00000265970 NM_002645.2 400 caC/caG 0 Missense_Mutation G 44 PIK3C2A SNP 11 G C 17128748 17128748 WashU ST8SIA6 338596 genome.wustl.edu GRCh37 10 17363274 17363274 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377602.4:c.800T>G p.Leu267Arg p.L267R ENST00000377602 NM_001004470.1 267 cTt/cGt 0 Missense_Mutation A 3 ST8SIA6 SNP 10 A C 17403280 17403280 WashU PAX7 5081 genome.wustl.edu GRCh37 1 18960889 18960889 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375375.3:c.178G>C p.Val60Leu p.V60L ENST00000375375 NM_002584.2 60 Gtg/Ctg 0 Missense_Mutation G 36 PAX7 SNP 1 G C 18833476 18833476 WashU RNF112 7732 genome.wustl.edu GRCh37 17 19317435 19317435 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000461366.1:c.853G>A p.Asp285Asn p.D285N ENST00000461366 NM_007148.4 285 Gat/Aat 0 Missense_Mutation G 41 RNF112 SNP 17 G A 19258027 19258027 WashU OR4N2 390429 genome.wustl.edu GRCh37 14 20296515 20296515 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315947.1:c.908A>T p.Asn303Ile p.N303I ENST00000315947 NM_001004723.1 303 aAt/aTt 0 Missense_Mutation A 4 OR4N2 SNP 14 A T 19366355 19366355 WashU ZNF90 7643 genome.wustl.edu GRCh37 19 20216091 20216091 + synonymous_variant Silent SNP T T A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000418063.2:c.192T>A p.Thr64= p.T64= ENST00000418063 NM_007138.1 64 acT/acA 0 Silent T 55 ZNF90 SNP 19 T A 20077091 20077091 WashU UMOD 7369 genome.wustl.edu GRCh37 16 20348686 20348686 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000570689.1:c.1667C>G p.Ala556Gly p.A556G ENST00000570689 556 gCt/gGt 0 Missense_Mutation G 34 UMOD SNP 16 G C 20256187 20256187 WashU FOCAD 54914 genome.wustl.edu GRCh37 9 20881926 20881926 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380249.1:c.2374G>T p.Gly792Trp p.G792W ENST00000380249 NM_017794.3 792 Ggg/Tgg 0 Missense_Mutation G 47 KIAA1797 SNP 9 G T 20871926 20871926 WashU HSPG2 3339 genome.wustl.edu GRCh37 1 22205548 22205548 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374695.3:c.2410A>G p.Met804Val p.M804V ENST00000374695 NM_005529.5 804 Atg/Gtg 0 Missense_Mutation T 51 HSPG2 SNP 1 T C 22078135 22078135 WashU RGL4 266747 genome.wustl.edu GRCh37 22 24038801 24038801 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000290691.5:c.1087G>T p.Ala363Ser p.A363S ENST00000290691 NM_153615.1 363 Gcg/Tcg 0 Missense_Mutation G 42 RGL4 SNP 22 G T 22368801 22368801 WashU C2CD5 9847 genome.wustl.edu GRCh37 12 22622721 22622721 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333957.4:c.2455G>C p.Asp819His p.D819H ENST00000333957 NM_014802.1 819 Gat/Cat 0 Missense_Mutation C 32 KIAA0528 SNP 12 C G 22513988 22513988 WashU CHST9 83539 genome.wustl.edu GRCh37 18 24496362 24496362 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000284224.8:c.1193G>A p.Arg398Lys p.R398K ENST00000284224 NM_031422.5 398 aGg/aAg 0 Missense_Mutation C 24 CHST9 SNP 18 C T 22750360 22750360 WashU SACS 26278 genome.wustl.edu GRCh37 13 23913870 23913870 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382298.3:c.4145A>G p.His1382Arg p.H1382R ENST00000382298 NM_014363.5 1382 cAt/cGt 0 Missense_Mutation T 51 SACS SNP 13 T C 22811870 22811870 WashU ZNF724P 440519 genome.wustl.edu GRCh37 19 23405878 23405878 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000418100.1:c.1169G>C p.Gly390Ala p.G390A ENST00000418100 390 gGa/gCa 0 Missense_Mutation C 30 ZNF724P SNP 19 C G 23197718 23197718 WashU ZNF91 7644 genome.wustl.edu GRCh37 19 23542956 23542956 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300619.7:c.2825A>C p.Glu942Ala p.E942A ENST00000300619 NM_003430.2 942 gAa/gCa 0 Missense_Mutation T 62 ZNF91 SNP 19 T G 23334796 23334796 WashU ACOT9 23597 genome.wustl.edu GRCh37 X 23731273 23731273 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379303.5:c.641C>G p.Ala214Gly p.A214G ENST00000379303 NM_001037171.1 214 gCt/gGt 0 Missense_Mutation G 34 ACOT9 SNP 23 G C 23641194 23641194 WashU ADCY3 109 genome.wustl.edu GRCh37 2 25051013 25051013 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260600.5:c.2190C>A p.Tyr730Ter p.Y730* ENST00000260600 NM_004036.3 730 taC/taA 0 Nonsense_Mutation G 36 ADCY3 SNP 2 G T 24904517 24904517 WashU IFLTD1 160492 genome.wustl.edu GRCh37 12 25679139 25679139 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000458174.2:c.692C>T p.Ala231Val p.A231V ENST00000458174 NM_001145728.2 231 gCa/gTa 0 Missense_Mutation G 46 IFLTD1 SNP 12 G A 25570406 25570406 WashU NF1 4763 genome.wustl.edu GRCh37 17 29349031 29349031 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000579692.1:n.411G>T *137* ENST00000579692 0 Missense_Mutation G 36 LOC646021 SNP 17 G T 26373157 26373157 WashU WDTC1 23038 genome.wustl.edu GRCh37 1 27632830 27632830 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361771.3:c.1987G>A p.Asp663Asn p.D663N ENST00000361771 663 Gat/Aat 0 Missense_Mutation G 45 WDTC1 SNP 1 G A 27505417 27505417 WashU XPO6 23214 genome.wustl.edu GRCh37 16 28192352 28192352 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304658.5:c.4G>C p.Ala2Pro p.A2P ENST00000304658 NM_015171.3 2 Gca/Cca 0 Missense_Mutation C 26 XPO6 SNP 16 C G 28099853 28099853 WashU DOC2A 8448 genome.wustl.edu GRCh37 16 30021350 30021350 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000350119.4:c.194C>T p.Ala65Val p.A65V ENST00000350119 NM_003586.2 65 gCa/gTa 0 Missense_Mutation G 46 DOC2A SNP 16 G A 29928851 29928851 WashU HEATR5A 25938 genome.wustl.edu GRCh37 14 31856365 31856365 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389961.3:c.1132G>C p.Asp378His p.D378H ENST00000389961 378 Gat/Cat 0 Missense_Mutation C 30 HEATR5A SNP 14 C G 30926116 30926116 WashU SVILP1 645954 genome.wustl.edu GRCh37 10 30978431 30978431 + splice_donor_variant,non_coding_transcript_variant Splice_Site SNP A A C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422642.1:n.416+1A>C p.X139_splice ENST00000422642 0 Splice_Site_SNP A 2 ENSG00000217332 SNP 10 A C 31018437 31018437 WashU TIAM1 7074 genome.wustl.edu GRCh37 21 32638780 32638780 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286827.3:c.509C>T p.Ser170Phe p.S170F ENST00000286827 NM_003253.2 170 tCc/tTc 0 Missense_Mutation G 41 TIAM1 SNP 21 G A 31560651 31560651 WashU TNF 7124 genome.wustl.edu GRCh37 6 31545063 31545063 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000449264.2:c.451C>T p.Leu151Phe p.L151F ENST00000449264 NM_000594.3 151 Ctc/Ttc 0 Missense_Mutation C 28 TNF SNP 6 C T 31653042 31653042 WashU PPP1R17 10842 genome.wustl.edu GRCh37 7 31746836 31746836 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342032.3:c.407A>G p.Asp136Gly p.D136G ENST00000342032 NM_006658.4 136 gAc/gGc 0 Missense_Mutation A 10 C7orf16 SNP 7 A G 31713361 31713361 WashU COL16A1 1307 genome.wustl.edu GRCh37 1 32151712 32151712 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373672.3:c.1864G>A p.Ala622Thr p.A622T ENST00000373672 NM_001856.3 622 Gca/Aca 0 Missense_Mutation C 28 COL16A1 SNP 1 C T 31924299 31924299 WashU AKAP6 9472 genome.wustl.edu GRCh37 14 33293555 33293555 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000280979.4:c.6536C>G p.Ser2179Cys p.S2179C ENST00000280979 NM_004274.4 2179 tCt/tGt 0 Missense_Mutation C 32 AKAP6 SNP 14 C G 32363306 32363306 WashU EVA1C 59271 genome.wustl.edu GRCh37 21 33887206 33887206 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300255.2:c.1032A>G p.Arg344= p.R344= ENST00000300255 NM_058187.3 344 agA/agG 0 Silent A 11 C21orf63 SNP 21 A G 32809077 32809077 WashU COL11A2 1302 genome.wustl.edu GRCh37 6 33154447 33154447 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374708.4:c.755C>A p.Pro252Gln p.P252Q ENST00000374708 NM_080681.2 252 cCa/cAa 0 Missense_Mutation G 47 COL11A2 SNP 6 G T 33262425 33262425 WashU LTBP1 4052 genome.wustl.edu GRCh37 2 33540336 33540336 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000404816.2:c.3730G>A p.Asp1244Asn p.D1244N ENST00000404816 1244 Gat/Aat 0 Missense_Mutation G 35 LTBP1 SNP 2 G A 33393840 33393840 WashU ZSCAN20 7579 genome.wustl.edu GRCh37 1 33959131 33959131 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361328.3:c.1789A>G p.Thr597Ala p.T597A ENST00000361328 NM_145238.3 597 Act/Gct 0 Missense_Mutation A 10 ZSCAN20 SNP 1 A G 33731718 33731718 WashU BMPER 168667 genome.wustl.edu GRCh37 7 33976958 33976958 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297161.2:c.277C>G p.Leu93Val p.L93V ENST00000297161 NM_133468.4 93 Ctg/Gtg 0 Missense_Mutation C 24 BMPER SNP 7 C G 33943483 33943483 WashU KIF24 347240 genome.wustl.edu GRCh37 9 34255784 34255784 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379166.2:c.3821G>A p.Cys1274Tyr p.C1274Y ENST00000379166 NM_194313.2 1274 tGc/tAc 0 Missense_Mutation C 25 KIF24 SNP 9 C T 34245784 34245784 WashU PSMD3 5709 genome.wustl.edu GRCh37 17 38151480 38151480 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264639.4:c.1148G>T p.Gly383Val p.G383V ENST00000264639 NM_002809.3 383 gGg/gTg 0 Missense_Mutation G 43 PSMD3 SNP 17 G T 35405006 35405006 WashU PLA2G6 8398 genome.wustl.edu GRCh37 22 38509582 38509582 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332509.3:c.2114G>A p.Cys705Tyr p.C705Y ENST00000332509 NM_003560.2 705 tGt/tAt 0 Missense_Mutation C 17 PLA2G6 SNP 22 C T 36839528 36839528 WashU FSIP1 161835 genome.wustl.edu GRCh37 15 40056114 40056114 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000350221.3:c.467C>A p.Ser156Tyr p.S156Y ENST00000350221 NM_152597.4 156 tCt/tAt 0 Missense_Mutation G 33 FSIP1 SNP 15 G T 37843406 37843406 WashU FREM2 341640 genome.wustl.edu GRCh37 13 39358814 39358814 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000280481.7:c.5888T>C p.Ile1963Thr p.I1963T ENST00000280481 NM_207361.4 1963 aTa/aCa 0 Missense_Mutation T 49 FREM2 SNP 13 T C 38256814 38256814 WashU BCOR 54880 genome.wustl.edu GRCh37 X 39922071 39922071 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378444.4:c.4101C>T p.His1367= p.H1367= ENST00000378444 NM_001123385.1 1367 caC/caT 0 Silent G 36 BCOR SNP 23 G A 39807015 39807015 WashU FAM187B 148109 genome.wustl.edu GRCh37 19 35719310 35719310 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324675.3:c.274C>T p.Leu92Phe p.L92F ENST00000324675 NM_152481.1 92 Ctc/Ttc 0 Missense_Mutation G 35 FAM187B SNP 19 G A 40411150 40411150 WashU WBP2NL 164684 genome.wustl.edu GRCh37 22 42415741 42415741 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328823.9:c.247C>G p.Leu83Val p.L83V ENST00000328823 NM_152613.2 83 Ctc/Gtc 0 Missense_Mutation C 24 WBP2NL SNP 22 C G 40745687 40745687 WashU MTA3 57504 genome.wustl.edu GRCh37 2 42936244 42936244 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000407270.3:c.1533G>T p.Met511Ile p.M511I ENST00000407270 NM_020744.2 511 atG/atT 0 Missense_Mutation G 46 MTA3 SNP 2 G T 42789748 42789748 WashU ABCC10 89845 genome.wustl.edu GRCh37 6 43400778 43400778 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372530.4:c.1060C>T p.Gln354Ter p.Q354* ENST00000372530 NM_001198934.1 354 Cag/Tag 0 Nonsense_Mutation C 29 ABCC10 SNP 6 C T 43508756 43508756 WashU RYR1 6261 genome.wustl.edu GRCh37 19 38998378 38998378 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359596.3:c.8843C>G p.Ser2948Trp p.S2948W ENST00000359596 2948 tCg/tGg 0 Missense_Mutation C 31 RYR1 SNP 19 C G 43690218 43690218 WashU ACAA2 10449 genome.wustl.edu GRCh37 18 47310299 47310299 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000285093.10:c.1112G>C p.Arg371Pro p.R371P ENST00000285093 NM_006111.2 371 cGt/cCt 0 Missense_Mutation C 19 ACAA2 SNP 18 C G 45564297 45564297 WashU NUMBL 9253 genome.wustl.edu GRCh37 19 41188843 41188843 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000252891.4:c.280C>T p.Arg94Trp p.R94W ENST00000252891 NM_004756.3 94 Cgg/Tgg 0 Missense_Mutation G 39 NUMBL SNP 19 G A 45880683 45880683 WashU B9D2 80776 genome.wustl.edu GRCh37 19 41863906 41863906 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000243578.3:c.110C>A p.Ser37Ter p.S37* ENST00000243578 NM_030578.3 37 tCa/tAa 0 Nonsense_Mutation G 45 B9D2 SNP 19 G T 46555746 46555746 WashU CELF1 10658 genome.wustl.edu GRCh37 11 47508323 47508323 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000532048.1:c.370G>C p.Ala124Pro p.A124P ENST00000532048 NM_001172639.1 124 Gct/Cct 0 Missense_Mutation C 25 CELF1 SNP 11 C G 47464899 47464899 WashU PTGIS 5740 genome.wustl.edu GRCh37 20 48130869 48130869 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244043.4:c.919G>T p.Ala307Ser p.A307S ENST00000244043 NM_000961.3 307 Gct/Tct 0 Missense_Mutation C 26 PTGIS SNP 20 C A 47564276 47564276 WashU GLDN 342035 genome.wustl.edu GRCh37 15 51687159 51687159 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335449.6:c.669C>T p.Ser223= p.S223= ENST00000335449 NM_181789.2 223 tcC/tcT 0 Silent C 21 GLDN SNP 15 C T 49474451 49474451 WashU DEFB114 245928 genome.wustl.edu GRCh37 6 49928151 49928151 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322066.3:c.64A>T p.Thr22Ser p.T22S ENST00000322066 NM_001037499.1 22 Acc/Tcc 0 Missense_Mutation T 57 DEFB114 SNP 6 T A 50036110 50036110 WashU SCN8A 6334 genome.wustl.edu GRCh37 12 52115511 52115511 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354534.6:c.1817G>A p.Arg606Gln p.R606Q ENST00000354534 NM_014191.3 606 cGg/cAg 0 Missense_Mutation G 39 SCN8A SNP 12 G A 50401778 50401778 WashU MYH14 79784 genome.wustl.edu GRCh37 19 50804965 50804965 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000601313.1:c.5517C>G p.Ala1839= p.A1839= ENST00000601313 NM_001145809.1 1839 gcC/gcG 0 Silent C 21 MYH14 SNP 19 C G 55496777 55496777 WashU OR5AS1 219447 genome.wustl.edu GRCh37 11 55798731 55798731 + synonymous_variant Silent SNP T T G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313555.1:c.837T>G p.Thr279= p.T279= ENST00000313555 NM_001001921.1 279 acT/acG 0 Silent T 55 OR5AS1 SNP 11 T G 55555307 55555307 WashU KLK3 354 genome.wustl.edu GRCh37 19 51361312 51361312 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326003.2:c.234C>A p.His78Gln p.H78Q ENST00000326003 NM_001030047.1 78 caC/caA 0 Missense_Mutation C 17 KLK3 SNP 19 C A 56053124 56053124 WashU SIGLEC8 27181 genome.wustl.edu GRCh37 19 51957963 51957963 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321424.3:c.1123C>A p.Leu375Met p.L375M ENST00000321424 NM_014442.2 375 Ctg/Atg 0 Missense_Mutation G 35 SIGLEC8 SNP 19 G T 56649775 56649775 WashU ZNF613 79898 genome.wustl.edu GRCh37 19 52448889 52448889 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000293471.6:c.1753T>C p.Leu585= p.L585= ENST00000293471 NM_001031721.3 585 Tta/Cta 0 Silent T 52 ZNF613 SNP 19 T C 57140701 57140701 WashU RNF111 54778 genome.wustl.edu GRCh37 15 59384740 59384740 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000559209.1:c.2771A>T p.Lys924Ile p.K924I ENST00000559209 924 aAa/aTa 0 Missense_Mutation A 1 RNF111 SNP 15 A T 57172032 57172032 WashU OR4D6 219983 genome.wustl.edu GRCh37 11 59225293 59225293 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300127.2:c.860A>C p.Tyr287Ser p.Y287S ENST00000300127 NM_001004708.1 287 tAt/tCt 0 Missense_Mutation A 16 OR4D6 SNP 11 A C 58981869 58981869 WashU NLRP12 91662 genome.wustl.edu GRCh37 19 54314534 54314534 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324134.6:c.379G>A p.Glu127Lys p.E127K ENST00000324134 NM_144687.3 127 Gaa/Aaa 0 Missense_Mutation C 30 NLRP12 SNP 19 C T 59006346 59006346 WashU BRSK1 84446 genome.wustl.edu GRCh37 19 55805588 55805588 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000309383.1:c.582C>A p.Pro194= p.P194= ENST00000309383 NM_032430.1 194 ccC/ccA 0 Silent C 22 BRSK1 SNP 19 C A 60497400 60497400 WashU NLRP13 126204 genome.wustl.edu GRCh37 19 56423971 56423971 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342929.3:c.1212A>T p.Glu404Asp p.E404D ENST00000342929 NM_176810.2 404 gaA/gaT 0 Missense_Mutation T 56 NLRP13 SNP 19 T A 61115783 61115783 WashU ZNF583 147949 genome.wustl.edu GRCh37 19 56925716 56925716 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333201.9:c.139G>T p.Val47Phe p.V47F ENST00000333201 NM_001159861.1 47 Gtt/Ttt 0 Missense_Mutation G 36 ZNF583 SNP 19 G T 61617528 61617528 WashU SCGB2A2 4250 genome.wustl.edu GRCh37 11 62037717 62037717 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000227918.2:c.29C>T p.Ala10Val p.A10V ENST00000227918 NM_002411.2 10 gCg/gTg 0 Missense_Mutation C 27 SCGB2A2 SNP 11 C T 61794293 61794293 WashU LPHN3 23284 genome.wustl.edu GRCh37 4 62598858 62598858 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000514591.1:c.781T>A p.Ser261Thr p.S261T ENST00000514591 261 Tct/Act 0 Missense_Mutation T 50 LPHN3 SNP 4 T A 62281453 62281453 WashU TRIP4 9325 genome.wustl.edu GRCh37 15 64690018 64690018 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261884.3:c.618+1G>T p.X206_splice ENST00000261884 NM_016213.4 0 Splice_Site_SNP G 44 TRIP4 SNP 15 G T 62477071 62477071 WashU EXOC5P1 644556 genome.wustl.edu GRCh37 4 63684285 63684285 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000510543.1:n.1742G>A *581* ENST00000510543 0 Missense_Mutation G 37 LOC644556 SNP 4 G A 63366880 63366880 WashU ZNF324B 388569 genome.wustl.edu GRCh37 19 58967205 58967205 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336614.4:c.894G>C p.Ser298= p.S298= ENST00000336614 NM_207395.2 298 tcG/tcC 0 Silent G 38 ZNF324B SNP 19 G C 63659017 63659017 WashU VDAC2P5 729317 genome.wustl.edu GRCh37 2 65433048 65433048 + non_coding_transcript_exon_variant RNA SNP T T A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393177.3:n.912T>A *304* ENST00000393177 0 Missense_Mutation T 54 LOC729317 SNP 2 T A 65286552 65286552 WashU PIAS1 8554 genome.wustl.edu GRCh37 15 68434291 68434291 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000249636.6:c.477C>T p.Asp159= p.D159= ENST00000249636 NM_016166.1 159 gaC/gaT 0 Silent C 17 PIAS1 SNP 15 C T 66221345 66221345 WashU HYDIN 54768 genome.wustl.edu GRCh37 16 70977797 70977797 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393567.2:c.6587C>G p.Pro2196Arg p.P2196R ENST00000393567 NM_001270974.1 2196 cCc/cGc 0 Missense_Mutation G 43 HYDIN SNP 16 G C 69535298 69535298 WashU HEXA 3073 genome.wustl.edu GRCh37 15 72638893 72638893 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268097.5:c.1305C>T p.Tyr435= p.Y435= ENST00000268097 NM_000520.4 435 taC/taT 0 Silent G 48 HEXA SNP 15 A A 70425947 70425947 WashU COL9A1 1297 genome.wustl.edu GRCh37 6 71011764 71011764 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357250.6:c.28T>A p.Phe10Ile p.F10I ENST00000357250 NM_001851.4 10 Ttc/Atc 0 Missense_Mutation A 1 COL9A1 SNP 6 A T 71068485 71068485 WashU HCN4 10021 genome.wustl.edu GRCh37 15 73635973 73635973 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261917.3:c.962A>T p.Glu321Val p.E321V ENST00000261917 NM_005477.2 321 gAg/gTg 0 Missense_Mutation T 54 HCN4 SNP 15 T A 71423026 71423026 WashU C2CD3 26005 genome.wustl.edu GRCh37 11 73843994 73843994 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313663.7:c.1112G>C p.Arg371Pro p.R371P ENST00000313663 NM_015531.4 371 cGg/cCg 0 Missense_Mutation C 23 C2CD3 SNP 11 C G 73521642 73521642 WashU CAPS2 84698 genome.wustl.edu GRCh37 12 75676116 75676116 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409445.3:c.1584A>C p.Lys528Asn p.K528N ENST00000409445 NM_032606.3 528 aaA/aaC 0 Missense_Mutation T 60 CAPS2 SNP 12 T G 73962383 73962383 WashU C1QTNF1 114897 genome.wustl.edu GRCh37 17 77043752 77043752 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339142.2:c.428G>A p.Ser143Asn p.S143N ENST00000339142 NM_198593.3 143 aGc/aAc 0 Missense_Mutation G 34 C1QTNF1 SNP 17 G A 74555347 74555347 WashU HK2 3099 genome.wustl.edu GRCh37 2 75081576 75081576 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000290573.2:c.220G>T p.Gly74Trp p.G74W ENST00000290573 NM_000189.4 74 Ggg/Tgg 0 Missense_Mutation G 47 HK2 SNP 2 G T 74935084 74935084 WashU PPBP 5473 genome.wustl.edu GRCh37 4 74853678 74853678 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296028.3:c.143G>T p.Gly48Val p.G48V ENST00000296028 NM_002704.3 48 gGc/gTc 0 Missense_Mutation C 26 PPBP SNP 4 C A 75072542 75072542 WashU CSRP2 1466 genome.wustl.edu GRCh37 12 77252746 77252746 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311083.5:c.568G>T p.Val190Phe p.V190F ENST00000311083 NM_001321.1 190 Gtt/Ttt 0 Missense_Mutation C 17 CSRP2 SNP 12 C A 75776877 75776877 WashU RORB 6096 genome.wustl.edu GRCh37 9 77257495 77257495 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376896.3:c.401A>G p.Asn134Ser p.N134S ENST00000376896 NM_006914.3 134 aAc/aGc 0 Missense_Mutation A 2 RORB SNP 9 A G 76447315 76447315 WashU LPAR4 2846 genome.wustl.edu GRCh37 X 78010950 78010950 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000435339.3:c.584G>A p.Arg195His p.R195H ENST00000435339 NM_005296.2 195 cGt/cAt 0 Missense_Mutation G 40 LPAR4 SNP 23 G A 77897606 77897606 WashU TENM4 26011 genome.wustl.edu GRCh37 11 78387369 78387369 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000278550.7:c.5324G>A p.Gly1775Asp p.G1775D ENST00000278550 NM_001098816.2 1775 gGc/gAc 0 Missense_Mutation C 26 ODZ4 SNP 11 C T 78065017 78065017 WashU GAN 8139 genome.wustl.edu GRCh37 16 81391420 81391420 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000568107.2:c.857G>A p.Arg286Gln p.R286Q ENST00000568107 NM_022041.3 286 cGg/cAg 0 Missense_Mutation G 39 GAN SNP 16 A A 79948921 79948921 WashU BMP3 651 genome.wustl.edu GRCh37 4 81967025 81967025 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282701.2:c.450A>G p.Gly150= p.G150= ENST00000282701 NM_001201.2 150 ggA/ggG 0 Silent A 11 BMP3 SNP 4 A G 82186049 82186049 WashU ALPK3 57538 genome.wustl.edu GRCh37 15 85400841 85400841 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258888.5:c.3478G>C p.Asp1160His p.D1160H ENST00000258888 NM_020778.4 1160 Gat/Cat 0 Missense_Mutation G 33 ALPK3 SNP 15 G C 83201845 83201845 WashU HELQ 113510 genome.wustl.edu GRCh37 4 84337944 84337944 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295488.3:c.3138C>G p.Leu1046= p.L1046= ENST00000295488 NM_133636.2 1046 ctC/ctG 0 Silent G 37 HELQ SNP 4 G C 84556968 84556968 WashU CEP290 80184 genome.wustl.edu GRCh37 12 88465166 88465166 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000552810.1:c.5916T>C p.Asp1972= p.D1972= ENST00000552810 NM_025114.3 1972 gaT/gaC 0 Silent A 12 CEP290 SNP 12 A G 86989297 86989297 WashU C7orf62 219557 genome.wustl.edu GRCh37 7 88423915 88423915 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297203.2:c.342T>C p.Tyr114= p.Y114= ENST00000297203 NM_152706.3 114 taT/taC 0 Silent A 16 C7ORF62 SNP 7 A G 88261851 88261851 WashU RRAGD 58528 genome.wustl.edu GRCh37 6 90089026 90089026 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369415.4:c.676A>G p.Ile226Val p.I226V ENST00000369415 NM_021244.4 226 Ata/Gta 0 Missense_Mutation T 52 RRAGD SNP 6 T C 90145745 90145745 WashU S1PR3 1903 genome.wustl.edu GRCh37 9 91617047 91617047 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375846.3:c.932G>T p.Arg311Leu p.R311L ENST00000375846 311 cGt/cTt 0 Missense_Mutation G 40 S1PR3 SNP 9 G T 90806867 90806867 WashU CCDC88C 440193 genome.wustl.edu GRCh37 14 91772241 91772241 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389857.6:c.3225G>C p.Leu1075= p.L1075= ENST00000389857 NM_001080414.3 1075 ctG/ctC 0 Silent C 25 CCDC88C SNP 14 G G 90841994 90841994 WashU FAT3 120114 genome.wustl.edu GRCh37 11 92085950 92085950 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298047.6:c.672G>T p.Lys224Asn p.K224N ENST00000298047 224 aaG/aaT 0 Missense_Mutation G 33 FAT3 SNP 11 G T 91725598 91725598 WashU PLXNC1 10154 genome.wustl.edu GRCh37 12 94575306 94575306 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258526.4:c.1288G>A p.Val430Ile p.V430I ENST00000258526 NM_005761.2 430 Gtt/Att 0 Missense_Mutation G 40 PLXNC1 SNP 12 G A 93099437 93099437 WashU MANEA 79694 genome.wustl.edu GRCh37 6 96034488 96034488 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358812.4:c.173A>T p.Asn58Ile p.N58I ENST00000358812 NM_024641.3 58 aAt/aTt 0 Missense_Mutation A 4 MANEA SNP 6 A T 96141209 96141209 WashU ASNS 440 genome.wustl.edu GRCh37 7 97482384 97482384 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000175506.4:c.1464C>G p.Tyr488Ter p.Y488* ENST00000175506 NM_183356.3 488 taC/taG 0 Nonsense_Mutation G 40 ASNS SNP 7 G C 97320320 97320320 WashU LMTK2 22853 genome.wustl.edu GRCh37 7 97833389 97833389 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297293.5:c.4374G>A p.Thr1458= p.T1458= ENST00000297293 NM_014916.3 1458 acG/acA 0 Silent G 39 LMTK2 SNP 7 G A 97671325 97671325 WashU SCYL2 55681 genome.wustl.edu GRCh37 12 100708360 100708360 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360820.2:c.1063G>A p.Gly355Arg p.G355R ENST00000360820 NM_017988.4 355 Gga/Aga 0 Missense_Mutation G 35 SCYL2 SNP 12 G A 99232491 99232491 WashU OR5H7P genome.wustl.edu GRCh37 3 97957389 97957389 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000514084.1:n.194G>C *65* ENST00000514084 0 Missense_Mutation G 36 ENSG00000187900 SNP 3 G C 99440079 99440079 WashU TAF6 6878 genome.wustl.edu GRCh37 7 99709850 99709850 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000437822.2:c.712C>A p.Leu238Met p.L238M ENST00000437822 NM_001190415.1 238 Ctg/Atg 0 Missense_Mutation G 34 TAF6 SNP 7 G T 99547786 99547786 WashU LRCH4 4034 genome.wustl.edu GRCh37 7 100173896 100173896 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310300.6:c.1603C>A p.Pro535Thr p.P535T ENST00000310300 NM_002319.3 535 Cca/Aca 0 Missense_Mutation G 41 LRCH4 SNP 7 G T 100011832 100011832 WashU FBXO24 26261 genome.wustl.edu GRCh37 7 100187937 100187937 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000427939.2:c.393G>C p.Gln131His p.Q131H ENST00000427939 NM_012172.4 131 caG/caC 0 Missense_Mutation G 35 FBXO24 SNP 7 G C 100025873 100025873 WashU LRRC39 127495 genome.wustl.edu GRCh37 1 100618068 100618068 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370138.1:c.825C>T p.Phe275= p.F275= ENST00000370138 NM_001256385.1 275 ttC/ttT 0 Silent G 45 LRRC39 SNP 1 G A 100390656 100390656 WashU MUC17 140453 genome.wustl.edu GRCh37 7 100683992 100683992 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306151.4:c.9295A>T p.Thr3099Ser p.T3099S ENST00000306151 NM_001040105.1 3099 Act/Tct 0 Missense_Mutation A 2 MUC17 SNP 7 A T 100470712 100470712 WashU NPAS2 4862 genome.wustl.edu GRCh37 2 101564740 101564740 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335681.5:c.407A>G p.Gln136Arg p.Q136R ENST00000335681 NM_002518.3 136 cAa/cGa 0 Missense_Mutation A 5 NPAS2 SNP 2 A G 100931172 100931172 WashU GPR128 84873 genome.wustl.edu GRCh37 3 100413790 100413790 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273352.3:c.2339C>T p.Pro780Leu p.P780L ENST00000273352 NM_032787.2 780 cCg/cTg 0 Missense_Mutation C 23 GPR128 SNP 3 C T 101896480 101896480 WashU STAB2 55576 genome.wustl.edu GRCh37 12 104054121 104054121 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000388887.2:c.1747C>T p.Leu583Phe p.L583F ENST00000388887 NM_017564.9 583 Ctt/Ttt 0 Missense_Mutation C 28 STAB2 SNP 12 C T 102578251 102578251 WashU TDG 6996 genome.wustl.edu GRCh37 12 104376702 104376702 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392872.3:c.604G>T p.Asp202Tyr p.D202Y ENST00000392872 NM_003211.4 202 Gat/Tat 0 Missense_Mutation G 33 TDG SNP 12 G T 102900832 102900832 WashU ZCCHC18 644353 genome.wustl.edu GRCh37 X 103359003 103359003 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000537356.3:c.201A>T p.Gln67His p.Q67H ENST00000537356 NM_001143978.2 67 caA/caT 0 Missense_Mutation A 3 ZCCHC18 SNP 23 A T 103245659 103245659 WashU INA 9118 genome.wustl.edu GRCh37 10 105048223 105048223 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369849.4:c.1297A>C p.Ser433Arg p.S433R ENST00000369849 NM_032727.3 433 Agt/Cgt 0 Missense_Mutation A 7 INA SNP 10 A C 105038213 105038213 WashU CBLL1 79872 genome.wustl.edu GRCh37 7 107389401 107389401 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000440859.3:c.90C>T p.Leu30= p.L30= ENST00000440859 NM_024814.2 30 ctC/ctT 0 Missense_Mutation C 29 LOC100128737 SNP 7 C T 107176637 107176637 WashU CUL5 8065 genome.wustl.edu GRCh37 11 107925383 107925383 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393094.2:c.563G>T p.Cys188Phe p.C188F ENST00000393094 NM_003478.3 188 tGt/tTt 0 Missense_Mutation G 48 CUL5 SNP 11 G T 107430593 107430593 WashU ABRA 137735 genome.wustl.edu GRCh37 8 107782232 107782232 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311955.3:c.187C>A p.Pro63Thr p.P63T ENST00000311955 NM_139166.4 63 Cct/Act 0 Missense_Mutation G 41 ABRA SNP 8 G T 107851408 107851408 WashU APC 324 genome.wustl.edu GRCh37 5 112174650 112174650 + missense_variant Missense_Mutation SNP G G A rs28933379 Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257430.4:c.3359G>A p.Gly1120Glu p.G1120E ENST00000257430 NM_000038.5 1120 gGa/gAa 0 Missense_Mutation G 41 APC SNP 5 G A 112202549 112202549 WashU APC 324 genome.wustl.edu GRCh37 5 112177305 112177305 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257430.4:c.6014C>G p.Ser2005Ter p.S2005* ENST00000257430 NM_000038.5 2005 tCa/tGa 0 Nonsense_Mutation C 29 APC SNP 5 C G 112205204 112205204 WashU PSD4 23550 genome.wustl.edu GRCh37 2 113943815 113943815 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000245796.6:c.1611C>G p.His537Gln p.H537Q ENST00000245796 NM_012455.2 537 caC/caG 0 Missense_Mutation C 18 PSD4 SNP 2 C G 113660286 113660286 WashU NNMT 4837 genome.wustl.edu GRCh37 11 114167364 114167364 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000535401.1:c.86C>G p.Ser29Cys p.S29C ENST00000535401 29 tCt/tGt 0 Missense_Mutation C 32 NNMT SNP 11 C G 113672574 113672574 WashU ZFP37 7539 genome.wustl.edu GRCh37 9 115818910 115818910 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374227.3:c.59G>A p.Arg20Lys p.R20K ENST00000374227 20 aGa/aAa 0 Missense_Mutation C 32 ZFP37 SNP 9 C T 114858731 114858731 WashU NRAP 4892 genome.wustl.edu GRCh37 10 115368216 115368216 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359988.3:c.3659C>A p.Pro1220His p.P1220H ENST00000359988 NM_001261463.1 1220 cCc/cAc 0 Missense_Mutation G 43 NRAP SNP 10 G T 115358206 115358206 WashU ZBTB20 26137 genome.wustl.edu GRCh37 3 114057992 114057992 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000474710.1:c.2086C>A p.Pro696Thr p.P696T ENST00000474710 NM_001164342.1 696 Ccc/Acc 0 Missense_Mutation G 44 ZBTB20 SNP 3 G T 115540682 115540682 WashU WNT2 7472 genome.wustl.edu GRCh37 7 116937751 116937751 + synonymous_variant Silent SNP A A T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265441.3:c.768T>A p.Ala256= p.A256= ENST00000265441 NM_003391.2 256 gcT/gcA 0 Silent A 15 WNT2 SNP 7 A T 116724987 116724987 WashU PAX4 5078 genome.wustl.edu GRCh37 7 127253098 127253098 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341640.2:c.669C>G p.Leu223= p.L223= ENST00000341640 NM_006193.2 223 ctC/ctG 0 Silent G 45 PAX4 SNP 7 G C 127040334 127040334 WashU ZXDC 79364 genome.wustl.edu GRCh37 3 126191065 126191065 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389709.3:c.991T>C p.Ser331Pro p.S331P ENST00000389709 NM_025112.4 331 Tcc/Ccc 0 Missense_Mutation A 11 ZXDC SNP 3 A G 127673755 127673755 WashU UGGT1 56886 genome.wustl.edu GRCh37 2 128886622 128886622 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000259253.6:c.1246A>G p.Asn416Asp p.N416D ENST00000259253 NM_020120.3 416 Aat/Gat 0 Missense_Mutation A 9 UGGT1 SNP 2 A G 128603092 128603092 WashU ADAMTS19 171019 genome.wustl.edu GRCh37 5 129037270 129037270 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274487.4:c.3126G>A p.Ala1042= p.A1042= ENST00000274487 NM_133638.3 1042 gcG/gcA 0 Silent G 39 ADAMTS19 SNP 5 G A 129065169 129065169 WashU GPR133 283383 genome.wustl.edu GRCh37 12 131451011 131451011 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261654.5:c.107T>A p.Phe36Tyr p.F36Y ENST00000261654 NM_198827.3 36 tTt/tAt 0 Missense_Mutation T 64 GPR133 SNP 12 T A 130016964 130016964 WashU ODF2 4957 genome.wustl.edu GRCh37 9 131256968 131256968 + intron_variant Intron SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000434106.3:c.1911+21G>T *637* ENST00000434106 NM_153433.1 0 Silent G 44 ODF2 SNP 9 G T 130296789 130296789 WashU EFCAB12 90288 genome.wustl.edu GRCh37 3 129140624 129140624 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000505956.1:c.72C>T p.Pro24= p.P24= ENST00000505956 NM_207307.1 24 ccC/ccT 0 Silent G 47 C3orf25 SNP 3 G A 130623314 130623314 WashU ENPP1 5167 genome.wustl.edu GRCh37 6 132171147 132171147 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360971.2:c.331C>T p.Arg111Cys p.R111C ENST00000360971 NM_006208.2 111 Cgc/Tgc 0 Missense_Mutation C 31 ENPP1 SNP 6 C T 132212840 132212840 WashU CHRM2 1129 genome.wustl.edu GRCh37 7 136699896 136699896 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000445907.2:c.284T>G p.Val95Gly p.V95G ENST00000445907 NM_001006627.1 95 gTg/gGg 0 Missense_Mutation T 59 CHRM2 SNP 7 T G 136350436 136350436 WashU FAM135B 51059 genome.wustl.edu GRCh37 8 139144882 139144882 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395297.1:c.4175T>C p.Phe1392Ser p.F1392S ENST00000395297 NM_015912.3 1392 tTc/tCc 0 Missense_Mutation A 9 FAM135B SNP 8 A G 139214064 139214064 WashU DENND2A 27147 genome.wustl.edu GRCh37 7 140301270 140301270 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000275884.6:c.928T>G p.Ser310Ala p.S310A ENST00000275884 310 Tct/Gct 0 Missense_Mutation A 11 DENND2A SNP 7 A C 139947739 139947739 WashU PCDHB7 56129 genome.wustl.edu GRCh37 5 140554153 140554153 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000231137.3:c.1737G>A p.Ala579= p.A579= ENST00000231137 NM_018940.2 579 gcG/gcA 0 Silent G 39 PCDHB7 SNP 5 G A 140534337 140534337 WashU COPB2 9276 genome.wustl.edu GRCh37 3 139077104 139077104 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333188.5:c.2563G>A p.Gly855Arg p.G855R ENST00000333188 NM_004766.2 855 Ggg/Agg 0 Missense_Mutation C 21 COPB2 SNP 3 C T 140559794 140559794 WashU PCDHB15 56121 genome.wustl.edu GRCh37 5 140626712 140626712 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000231173.3:c.1566G>C p.Glu522Asp p.E522D ENST00000231173 NM_018935.2 522 gaG/gaC 0 Missense_Mutation G 35 PCDHB15 SNP 5 G C 140606896 140606896 WashU PCDH1 5097 genome.wustl.edu GRCh37 5 141243376 141243376 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287008.3:c.2520G>C p.Gly840= p.G840= ENST00000287008 NM_032420.3 840 ggG/ggC 0 Silent C 22 PCDH1 SNP 5 C G 141223560 141223560 WashU GJA8 2703 genome.wustl.edu GRCh37 1 147381251 147381251 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000240986.4:c.1169A>G p.Lys390Arg p.K390R ENST00000240986 NM_005267.4 390 aAg/aGg 0 Missense_Mutation A 3 GJA8 SNP 1 A G 145847875 145847875 WashU SH3TC2 79628 genome.wustl.edu GRCh37 5 148392217 148392217 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000515425.1:c.3134A>T p.Glu1045Val p.E1045V ENST00000515425 NM_024577.3 1045 gAg/gTg 0 Missense_Mutation T 54 SH3TC2 SNP 5 T A 148372410 148372410 WashU UST 10090 genome.wustl.edu GRCh37 6 149342611 149342611 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367463.4:c.931G>C p.Asp311His p.D311H ENST00000367463 NM_005715.2 311 Gac/Cac 0 Missense_Mutation G 33 UST SNP 6 G C 149384304 149384304 WashU GIMAP5 55340 genome.wustl.edu GRCh37 7 150439380 150439380 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358647.3:c.153C>G p.Pro51= p.P51= ENST00000358647 NM_018384.4 51 ccC/ccG 0 Silent C 23 GIMAP5 SNP 7 C G 150070313 150070313 WashU AOC1 26 genome.wustl.edu GRCh37 7 150557711 150557711 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000493429.1:c.1979T>C p.Ile660Thr p.I660T ENST00000493429 660 aTt/aCt 0 Missense_Mutation T 52 ABP1 SNP 7 T C 150188644 150188644 WashU LMNA 4000 genome.wustl.edu GRCh37 1 156104723 156104723 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368300.4:c.767T>G p.Val256Gly p.V256G ENST00000368300 NM_170707.3 256 gTg/gGg 0 Missense_Mutation T 59 LMNA SNP 1 T G 154371347 154371347 WashU SPTA1 6708 genome.wustl.edu GRCh37 1 158583525 158583525 + synonymous_variant Silent SNP A A C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368147.4:c.6975T>G p.Ala2325= p.A2325= ENST00000368147 NM_003126.2 2325 gcT/gcG 0 Silent A 7 SPTA1 SNP 1 A C 156850149 156850149 WashU MNDA 4332 genome.wustl.edu GRCh37 1 158819015 158819015 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368141.4:c.1212G>A p.Met404Ile p.M404I ENST00000368141 NM_002432.1 404 atG/atA 0 Missense_Mutation G 45 MNDA SNP 1 G A 157085639 157085639 WashU PYHIN1 149628 genome.wustl.edu GRCh37 1 158913767 158913767 + missense_variant,splice_region_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368140.1:c.1190A>T p.Gln397Leu p.Q397L ENST00000368140 NM_152501.4 397 cAg/cTg 0 Missense_Mutation A 7 PYHIN1 SNP 1 A T 157180391 157180391 WashU ARHGAP30 257106 genome.wustl.edu GRCh37 1 161018482 161018482 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368013.3:c.2329C>G p.Gln777Glu p.Q777E ENST00000368013 NM_181720.2 777 Caa/Gaa 0 Missense_Mutation G 45 ARHGAP30 SNP 1 G C 159285106 159285106 WashU GABRG2 2566 genome.wustl.edu GRCh37 5 161524811 161524811 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000414552.2:c.495C>A p.Thr165= p.T165= ENST00000414552 NM_198903.2 165 acC/acA 0 Silent C 22 GABRG2 SNP 5 C A 161457389 161457389 WashU SLC9C2 284525 genome.wustl.edu GRCh37 1 173505055 173505055 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367714.3:c.1689G>C p.Met563Ile p.M563I ENST00000367714 NM_178527.3 563 atG/atC 0 Missense_Mutation C 29 SLC9A11 SNP 1 C G 171771678 171771678 WashU TTN 7273 genome.wustl.edu GRCh37 2 179465864 179465864 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.55767C>A p.Gly18589= p.G18589= ENST00000589042 NM_001267550.1 18589 ggC/ggA 0 Silent G 42 TTN SNP 2 G T 179174109 179174109 WashU RASGEF1C 255426 genome.wustl.edu GRCh37 5 179546376 179546376 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393371.2:c.877G>A p.Gly293Ser p.G293S ENST00000393371 293 Ggc/Agc 0 Missense_Mutation C 23 RASGEF1C SNP 5 C T 179478982 179478982 WashU KLHL6 89857 genome.wustl.edu GRCh37 3 183210290 183210290 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341319.3:c.1556A>G p.Tyr519Cys p.Y519C ENST00000341319 NM_130446.2 519 tAt/tGt 0 Missense_Mutation T 49 KLHL6 SNP 3 T C 184692984 184692984 WashU EIF4G1 1981 genome.wustl.edu GRCh37 3 184042725 184042725 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000424196.1:c.2700G>T p.Arg900= p.R900= ENST00000424196 900 cgG/cgT 0 Silent G 42 EIF4G1 SNP 3 G T 185525419 185525419 WashU FAT1 2195 genome.wustl.edu GRCh37 4 187540678 187540678 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000441802.2:c.7062G>A p.Arg2354= p.R2354= ENST00000441802 NM_005245.3 2354 cgG/cgA 0 Silent C 26 FAT1 SNP 4 T T 187777672 187777672 WashU HECW2 57520 genome.wustl.edu GRCh37 2 197297969 197297969 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260983.3:c.179G>A p.Ser60Asn p.S60N ENST00000260983 NM_020760.1 60 aGc/aAc 0 Missense_Mutation C 28 HECW2 SNP 2 C T 197006214 197006214 WashU PPFIA4 8497 genome.wustl.edu GRCh37 1 203037592 203037592 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272198.6:c.1642T>A p.Trp548Arg p.W548R ENST00000272198 NM_015053.1 548 Tgg/Agg 0 Missense_Mutation T 55 PPFIA4 SNP 1 T A 201304215 201304215 WashU KCNH1 3756 genome.wustl.edu GRCh37 1 210857394 210857394 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271751.4:c.2199G>A p.Pro733= p.P733= ENST00000271751 733 ccG/ccA 0 Silent C 23 KCNH1 SNP 1 C T 208924017 208924017 WashU USH2A 7399 genome.wustl.edu GRCh37 1 216246484 216246484 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307340.3:c.5731G>A p.Gly1911Arg p.G1911R ENST00000307340 NM_206933.2 1911 Gga/Aga 0 Missense_Mutation C 22 USH2A SNP 1 C T 214313107 214313107 WashU PTPRN 5798 genome.wustl.edu GRCh37 2 220162763 220162763 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295718.2:c.1731G>C p.Val577= p.V577= ENST00000295718 NM_002846.3 577 gtG/gtC 0 Silent C 25 PTPRN SNP 2 C G 219871007 219871007 WashU GPR55 9290 genome.wustl.edu GRCh37 2 231774990 231774990 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392040.1:c.688G>C p.Ala230Pro p.A230P ENST00000392040 NM_005683.3 230 Gcc/Ccc 0 Missense_Mutation C 28 GPR55 SNP 2 C G 231483234 231483234 WashU RYR2 6262 genome.wustl.edu GRCh37 1 237838123 237838123 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366574.2:c.8807C>G p.Ala2936Gly p.A2936G ENST00000366574 NM_001035.2 2936 gCc/gGc 0 Missense_Mutation C 26 RYR2 SNP 1 C G 235904746 235904746 WashU SCLY 51540 genome.wustl.edu GRCh37 2 238991893 238991893 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000254663.6:c.806A>T p.Tyr269Phe p.Y269F ENST00000254663 NM_016510.5 269 tAt/tTt 0 Missense_Mutation A 16 SCLY SNP 2 A T 238656632 238656632 WashU PKHD1L1 93035 genome.wustl.edu GRCh37 8 110530403 110530403 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000378402.5:c.11698del p.Leu3900PhefsTer38 p.L3900Ffs*38 ENST00000378402 NM_177531.4 3899 ttC/tt 0 Frame_Shift_Del C 30 PKHD1L1 DEL 8 C - 110599579 110599579 WashU ADRB2 154 genome.wustl.edu GRCh37 5 148207445 148207445 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000305988.4:c.1053del p.Asn352MetfsTer91 p.N352Mfs*91 ENST00000305988 NM_000024.5 351 Ggg/gg 0 Frame_Shift_Del G 47 ADRB2 DEL 5 G - 148187638 148187638 WashU FAM120B 84498 genome.wustl.edu GRCh37 6 170713658 170713659 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000476287.1:c.2713_2714insT p.Asp905ValfsTer102 p.D905Vfs*102 ENST00000476287 NM_032448.1 905 gac/gTac 0 Frame_Shift_Ins - 45 FAM120B INS 6 - T 170555584 170555583 WashU BOLA1 51027 genome.wustl.edu GRCh37 1 149871669 149871669 + missense_variant Missense_Mutation SNP G G C Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000369153.2:c.57G>C p.Leu19Phe p.L19F ENST00000369153 19 ttG/ttC 0 Missense_Mutation G 48 BOLA1 SNP 1 G C 148138293 148138293 WashU SHC1 6464 genome.wustl.edu GRCh37 1 154942743 154942743 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000448116.2:c.260C>T p.Ala87Val p.A87V ENST00000448116 NM_001130040.1 87 gCa/gTa 0 Missense_Mutation G 46 SHC1 SNP 1 G A 153209367 153209367 WashU SLC2A5 6518 genome.wustl.edu GRCh37 1 9098913 9098913 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377424.4:c.1072G>A p.Val358Met p.V358M ENST00000377424 NM_003039.2 358 Gtg/Atg 0 Missense_Mutation C 19 SLC2A5 SNP 1 T T 9021500 9021500 WashU JAM3 83700 genome.wustl.edu GRCh37 11 133939045 133939045 + missense_variant Missense_Mutation SNP C C A Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C A C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000299106.4:c.67C>A p.Leu23Ile p.L23I ENST00000299106 23 Ctt/Att 0 Missense_Mutation C 28 JAM3 SNP 11 C A 133444255 133444255 WashU OR8U1 219417 genome.wustl.edu GRCh37 11 56143423 56143423 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302270.1:c.324G>T p.Met108Ile p.M108I ENST00000302270 NM_001005204.1 108 atG/atT 0 Missense_Mutation G 45 OR8U1 SNP 11 G T 55899999 55899999 WashU HECTD4 283450 genome.wustl.edu GRCh37 12 112610483 112610483 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000550722.1:c.11339G>A p.Cys3780Tyr p.C3780Y ENST00000550722 NM_001109662.3 3780 tGt/tAt 0 Missense_Mutation C 17 C12orf51 SNP 12 C T 111094866 111094866 WashU LIMS1 3987 genome.wustl.edu GRCh37 2 109276124 109276125 + stop_gained Nonsense_Mutation DNP TG TG CT novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000542845.1:c.246_247delinsCT p.Glu83Ter p.E83* ENST00000542845 82 gcTGag/gcCTag 0 Missense TG 55 LIMS1 DNP 2 TG CT 108642557 108642556 WashU ASNSD1 54529 genome.wustl.edu GRCh37 2 190531586 190531586 + missense_variant Missense_Mutation SNP C C A Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C A C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000260952.4:c.728C>A p.Pro243His p.P243H ENST00000260952 NM_019048.2 243 cCt/cAt 0 Missense_Mutation C 24 ASNSD1 SNP 2 C A 190239831 190239831 WashU RIMS4 140730 genome.wustl.edu GRCh37 20 43384918 43384919 + missense_variant Missense_Mutation DNP GC GC AG novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000541604.2:c.669_670delinsCT p.Glu223Asp p.E223D ENST00000541604 223 gaGCtg/gaCTtg 0 Missense GC 34 RIMS4 DNP 20 GC AG 42818333 42818332 WashU CELSR3 1951 genome.wustl.edu GRCh37 3 48689423 48689423 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000164024.4:c.5810G>C p.Arg1937Pro p.R1937P ENST00000164024 NM_001407.2 1937 cGa/cCa 0 Missense_Mutation C 31 CELSR3 SNP 3 G G 48664427 48664427 WashU PTPN13 5783 genome.wustl.edu GRCh37 4 87655895 87655895 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000436978.1:c.2018C>T p.Thr673Ile p.T673I ENST00000436978 NM_080685.2 673 aCt/aTt 0 Missense_Mutation C 20 PTPN13 SNP 4 C T 87874919 87874919 WashU ITK 3702 genome.wustl.edu GRCh37 5 156649982 156649982 + missense_variant Missense_Mutation SNP A A C Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A C A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000422843.3:c.605A>C p.Asp202Ala p.D202A ENST00000422843 NM_005546.3 202 gAc/gCc 0 Missense_Mutation A 10 ITK SNP 5 A C 156582560 156582560 WashU ENC1 8507 genome.wustl.edu GRCh37 5 73931272 73931272 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302351.4:c.1039G>C p.Gly347Arg p.G347R ENST00000302351 NM_003633.3 347 Ggg/Cgg 0 Missense_Mutation C 22 ENC1 SNP 5 C G 73967028 73967028 WashU PDSS2 57107 genome.wustl.edu GRCh37 6 107566787 107566787 + missense_variant Missense_Mutation SNP C C G Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000369037.4:c.667G>C p.Val223Leu p.V223L ENST00000369037 NM_020381.3 223 Gta/Cta 0 Missense_Mutation C 18 PDSS2 SNP 6 C G 107673480 107673480 WashU PEX3 8504 genome.wustl.edu GRCh37 6 143792700 143792700 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367591.4:c.530C>G p.Thr177Arg p.T177R ENST00000367591 NM_003630.2 177 aCa/aGa 0 Missense_Mutation C 17 PEX3 SNP 6 C G 143834393 143834393 WashU RXRB 6257 genome.wustl.edu GRCh37 6 33163374 33163374 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374685.4:c.1229C>T p.Ser410Leu p.S410L ENST00000374685 410 tCa/tTa 0 Missense_Mutation G 45 RXRB SNP 6 G A 33271352 33271352 WashU COL1A2 1278 genome.wustl.edu GRCh37 7 94054949 94054949 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000297268.6:c.2809G>A p.Gly937Ser p.G937S ENST00000297268 NM_000089.3 937 Ggt/Agt 0 Missense_Mutation G 35 COL1A2 SNP 7 G A 93892885 93892885 WashU SHARPIN 81858 genome.wustl.edu GRCh37 8 145153859 145153859 + synonymous_variant Silent SNP G G A Unknown TCGA-23-1022-01 TCGA-23-1022-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000398712.2:c.1086C>T p.Ala362= p.A362= ENST00000398712 NM_030974.3 362 gcC/gcT 0 Missense_Mutation G 43 SHARPIN SNP 8 G A 145225847 145225847 WashU MATN2 4147 genome.wustl.edu GRCh37 8 98954029 98954029 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000520016.1:c.737A>T p.Glu246Val p.E246V ENST00000520016 246 gAg/gTg 0 Missense_Mutation A 11 MATN2 SNP 8 A T 99023205 99023205 WashU HPGDS 27306 genome.wustl.edu GRCh37 4 95239089 95239089 + frameshift_variant Frame_Shift_Del DEL A A - Unknown TCGA-23-1022-01 TCGA-23-1022-10 A A A - A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000295256.5:c.161del p.Leu54TrpfsTer12 p.L54Wfs*12 ENST00000295256 NM_014485.2 54 tTg/tg 0 Frame_Shift_Del A 5 HPGDS DEL 4 A - 95458112 95458112 WashU KLHL34 257240 genome.wustl.edu GRCh37 X 21674169 21674169 + missense_variant Missense_Mutation SNP T T G Unknown TCGA-23-1022-01 TCGA-23-1022-10 T T T G T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000379499.2:c.1738A>C p.Lys580Gln p.K580Q ENST00000379499 NM_153270.1 580 Aag/Cag 0 Missense_Mutation T 63 KLHL34 SNP 23 T G 21584090 21584090 WashU RERE 473 broad.mit.edu GRCh37 1 8555154 8555154 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000337907.3:c.1073G>A p.Arg358Gln p.R358Q ENST00000337907 NM_012102.3 358 cGg/cAg 0 Missense_Mutation C 23 RERE SNP 1 C T 8477741 8477741 Broad ARHGEF19 128272 broad.mit.edu GRCh37 1 16534580 16534580 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000270747.3:c.553C>G p.Arg185Gly p.R185G ENST00000270747 NM_153213.3 185 Cga/Gga 0 Missense_Mutation G 39 ARHGEF19 SNP 1 G C 16407167 16407167 Broad HSPG2 3339 broad.mit.edu GRCh37 1 22159000 22159000 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000374695.3:c.11195G>A p.Arg3732Lys p.R3732K ENST00000374695 NM_005529.5 3732 aGg/aAg 0 Missense_Mutation C 24 HSPG2 SNP 1 C T 22031587 22031587 Broad TMEM39B 55116 broad.mit.edu GRCh37 1 32560520 32560520 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000336294.5:c.1063G>C p.Gly355Arg p.G355R ENST00000336294 NM_018056.2 355 Ggc/Cgc 0 Missense_Mutation G 43 TMEM39B SNP 1 G C 32333107 32333107 Broad MACF1 23499 broad.mit.edu GRCh37 1 39806482 39806482 + intron_variant Intron SNP G G C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000545844.1:c.4630-8668G>C *1544* ENST00000545844 0 Missense_Mutation G 36 MACF1 SNP 1 G C 39579069 39579069 Broad KNCN 148930 broad.mit.edu GRCh37 1 47016849 47016849 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000396314.3:c.39G>T p.Leu13= p.L13= ENST00000396314 NM_001097611.1 13 ctG/ctT 0 Silent C 25 KNCN SNP 1 C A 46789436 46789436 Broad TNNI3K 51086 broad.mit.edu GRCh37 1 74808802 74808802 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000370891.2:c.1174C>G p.Gln392Glu p.Q392E ENST00000370891 NM_001112808.2 392 Caa/Gaa 0 Missense_Mutation C 21 TNNI3K SNP 1 C G 74581390 74581390 Broad DNAJB4 11080 broad.mit.edu GRCh37 1 78481902 78481902 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000370763.5:c.985G>T p.Val329Leu p.V329L ENST00000370763 NM_007034.3 329 Gta/Tta 0 Missense_Mutation G 36 DNAJB4 SNP 1 G T 78254490 78254490 Broad REG4 83998 broad.mit.edu GRCh37 1 120342452 120342452 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000354219.1:c.199C>G p.Leu67Val p.L67V ENST00000354219 NM_001159352.1 67 Ctg/Gtg 0 Missense_Mutation G 35 REG4 SNP 1 G C 120143975 120143975 Broad GON4L 54856 broad.mit.edu GRCh37 1 155732034 155732034 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000437809.1:c.4858G>A p.Asp1620Asn p.D1620N ENST00000437809 1620 Gat/Aat 0 Missense_Mutation C 32 GON4L SNP 1 C T 153998658 153998658 Broad ABL2 27 broad.mit.edu GRCh37 1 179102457 179102457 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000502732.1:c.210C>T p.Gly70= p.G70= ENST00000502732 NM_001168237.1 70 ggC/ggT 0 Silent G 46 ABL2 SNP 1 G A 177369080 177369080 Broad TUBB8 347688 broad.mit.edu GRCh37 10 93410 93410 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000309812.4:c.922G>T p.Gly308Cys p.G308C ENST00000309812 NM_177987.2 308 Ggc/Tgc 0 Missense_Mutation C 23 TUBB8 SNP 10 C A 83410 83410 Broad SFMBT2 57713 broad.mit.edu GRCh37 10 7409834 7409834 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000361972.4:c.213G>C p.Gln71His p.Q71H ENST00000361972 NM_001018039.1 71 caG/caC 0 Missense_Mutation C 32 SFMBT2 SNP 10 C G 7449840 7449840 Broad ITIH5 80760 broad.mit.edu GRCh37 10 7618952 7618952 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000256861.6:c.1442C>T p.Pro481Leu p.P481L ENST00000256861 NM_030569.6 481 cCg/cTg 0 Missense_Mutation G 39 ITIH5 SNP 10 G A 7658958 7658958 Broad SLC39A12 221074 broad.mit.edu GRCh37 10 18280230 18280230 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000377369.2:c.1420A>G p.Lys474Glu p.K474E ENST00000377369 NM_001145195.1 474 Aag/Gag 0 Missense_Mutation A 5 SLC39A12 SNP 10 A G 18320236 18320236 Broad EPC1 80314 broad.mit.edu GRCh37 10 32580213 32580213 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000263062.8:c.853G>C p.Glu285Gln p.E285Q ENST00000263062 NM_025209.3 285 Gag/Cag 0 Missense_Mutation C 29 EPC1 SNP 10 C G 32620219 32620219 Broad ZNF248 57209 broad.mit.edu GRCh37 10 38120901 38120901 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000395867.3:c.1382A>G p.Glu461Gly p.E461G ENST00000395867 NM_001267606.1 461 gAg/gGg 0 Missense_Mutation T 54 ZNF248 SNP 10 T C 38160907 38160907 Broad FRMPD2 143162 broad.mit.edu GRCh37 10 49381055 49381055 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000374201.3:c.3157C>A p.Arg1053Ser p.R1053S ENST00000374201 NM_001018071.3 1053 Cgc/Agc 0 Missense_Mutation G 40 FRMPD2 SNP 10 G T 49051061 49051061 Broad NRG3 10718 broad.mit.edu GRCh37 10 83635537 83635537 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000372141.2:c.441C>A p.Ser147= p.S147= ENST00000372141 NM_001165972.1 147 tcC/tcA 0 Silent C 24 NRG3 SNP 10 C A 83625517 83625517 Broad CRTAC1 55118 broad.mit.edu GRCh37 10 99655157 99655157 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000370597.3:c.1331A>T p.Asn444Ile p.N444I ENST00000370597 NM_018058.6 444 aAc/aTc 0 Missense_Mutation T 60 CRTAC1 SNP 10 T A 99645147 99645147 Broad TACC2 10579 broad.mit.edu GRCh37 10 123903187 123903187 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000369005.1:c.5800C>G p.Pro1934Ala p.P1934A ENST00000369005 NM_206862.2 1934 Ccc/Gcc 0 Missense_Mutation C 30 TACC2 SNP 10 C G 123893177 123893177 Broad OR4C46 119749 broad.mit.edu GRCh37 11 51516055 51516055 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000328188.1:c.774A>T p.Arg258Ser p.R258S ENST00000328188 NM_001004703.1 258 agA/agT 0 Missense_Mutation A 10 OR4C46 SNP 11 A T 51372631 51372631 Broad MYO7A 4647 broad.mit.edu GRCh37 11 76867025 76867025 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000409709.3:c.358C>A p.Arg120Ser p.R120S ENST00000409709 NM_000260.3 120 Cgc/Agc 0 Missense_Mutation C 23 MYO7A SNP 11 C A 76544673 76544673 Broad GRIA4 2893 broad.mit.edu GRCh37 11 105804496 105804496 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000282499.5:c.2095G>C p.Ala699Pro p.A699P ENST00000282499 NM_000829.3 699 Gca/Cca 0 Missense_Mutation G 34 GRIA4 SNP 11 G C 105309706 105309706 Broad KMT2A 4297 broad.mit.edu GRCh37 11 118376222 118376222 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000534358.1:c.9615C>A p.Ser3205Arg p.S3205R ENST00000534358 NM_005933.3 3205 agC/agA 0 Missense_Mutation C 26 MLL SNP 11 C A 117881432 117881432 Broad FAM118B 79607 broad.mit.edu GRCh37 11 126126620 126126620 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000533050.1:c.855G>C p.Glu285Asp p.E285D ENST00000533050 NM_024556.3 285 gaG/gaC 0 Missense_Mutation G 36 FAM118B SNP 11 G C 125631830 125631830 Broad ETS1 2113 broad.mit.edu GRCh37 11 128354879 128354879 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000392668.4:c.701C>G p.Pro234Arg p.P234R ENST00000392668 NM_001143820.1 234 cCc/cGc 0 Missense_Mutation G 43 ETS1 SNP 11 G C 127860089 127860089 Broad CHD4 1108 broad.mit.edu GRCh37 12 6707211 6707211 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000357008.2:c.1741G>C p.Asp581His p.D581H ENST00000357008 NM_001273.2 581 Gat/Cat 0 Missense_Mutation C 30 CHD4 SNP 12 C G 6577472 6577472 Broad EPS8 2059 broad.mit.edu GRCh37 12 15811057 15811057 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000281172.5:c.1057A>G p.Ser353Gly p.S353G ENST00000281172 NM_004447.5 353 Agt/Ggt 0 Missense_Mutation T 53 EPS8 SNP 12 T C 15702324 15702324 Broad SLC38A4 55089 broad.mit.edu GRCh37 12 47173445 47173445 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000447411.1:c.666T>G p.Leu222= p.L222= ENST00000447411 NM_001143824.1 222 ctT/ctG 0 Silent A 5 SLC38A4 SNP 12 A C 45459712 45459712 Broad VDR 7421 broad.mit.edu GRCh37 12 48251304 48251304 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000550325.1:c.595G>T p.Asp199Tyr p.D199Y ENST00000550325 NM_001017536.1 199 Gac/Tac 0 Missense_Mutation C 31 VDR SNP 12 C A 46537571 46537571 Broad GDF11 10220 broad.mit.edu GRCh37 12 56137370 56137370 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000257868.5:c.270G>A p.Lys90= p.K90= ENST00000257868 NM_005811.3 90 aaG/aaA 0 Silent G 35 GDF11 SNP 12 G A 54423637 54423637 Broad DCTN2 10540 broad.mit.edu GRCh37 12 57929571 57929571 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000434715.3:c.178G>C p.Asp60His p.D60H ENST00000434715 NM_006400.4 60 Gac/Cac 0 Missense_Mutation C 29 DCTN2 SNP 12 C G 56215838 56215838 Broad ACTR6 64431 broad.mit.edu GRCh37 12 100598825 100598825 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000188312.2:c.176C>A p.Pro59His p.P59H ENST00000188312 NM_022496.4 59 cCt/cAt 0 Missense_Mutation C 24 ACTR6 SNP 12 C A 99122956 99122956 Broad MYBPC1 4604 broad.mit.edu GRCh37 12 102074255 102074255 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000452455.2:c.3360A>G p.Lys1120= p.K1120= ENST00000452455 NM_001254718.1 1120 aaA/aaG 0 Silent A 3 MYBPC1 SNP 12 A G 100598386 100598386 Broad SLITRK1 114798 broad.mit.edu GRCh37 13 84454935 84454935 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000377084.2:c.708C>T p.Ile236= p.I236= ENST00000377084 NM_052910.2 236 atC/atT 0 Silent G 37 SLITRK1 SNP 13 G A 83352936 83352936 Broad LIG4 3981 broad.mit.edu GRCh37 13 108862142 108862142 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000356922.4:c.1475C>T p.Pro492Leu p.P492L ENST00000356922 NM_002312.3 492 cCt/cTt 0 Missense_Mutation G 35 LIG4 SNP 13 G A 107660143 107660143 Broad OR4K13 390433 broad.mit.edu GRCh37 14 20502095 20502095 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000315693.2:c.823T>C p.Tyr275His p.Y275H ENST00000315693 NM_001004714.1 275 Tac/Cac 0 Missense_Mutation A 13 OR4K13 SNP 14 A G 19571935 19571935 Broad SLC10A1 6554 broad.mit.edu GRCh37 14 70263593 70263593 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000216540.4:c.280T>G p.Leu94Val p.L94V ENST00000216540 NM_003049.3 94 Ttg/Gtg 0 Missense_Mutation A 3 SLC10A1 SNP 14 A C 69333346 69333346 Broad CEP128 145508 broad.mit.edu GRCh37 14 81297520 81297520 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000555265.1:c.1176C>A p.Asp392Glu p.D392E ENST00000555265 392 gaC/gaA 0 Missense_Mutation G 48 C14orf145 SNP 14 G T 80367273 80367273 Broad BTBD7 55727 broad.mit.edu GRCh37 14 93709129 93709129 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000334746.5:c.2889C>T p.Arg963= p.R963= ENST00000334746 NM_001002860.2 963 cgC/cgT 0 Silent G 46 BTBD7 SNP 14 G A 92778882 92778882 Broad SLC12A6 9990 broad.mit.edu GRCh37 15 34528258 34528258 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000354181.3:c.3185C>T p.Ala1062Val p.A1062V ENST00000354181 1062 gCg/gTg 0 Missense_Mutation G 38 SLC12A6 SNP 15 G A 32315550 32315550 Broad HDC 3067 broad.mit.edu GRCh37 15 50544639 50544639 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000267845.3:c.1029C>T p.Ala343= p.A343= ENST00000267845 NM_002112.3 343 gcC/gcT 0 Silent G 47 HDC SNP 15 G A 48331931 48331931 Broad ADAMTS7 11173 broad.mit.edu GRCh37 15 79067088 79067088 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000388820.4:c.1754G>A p.Arg585His p.R585H ENST00000388820 NM_014272.3 585 cGc/cAc 0 Missense_Mutation C 27 ADAMTS7 SNP 15 C T 76854143 76854143 Broad DNAH3 55567 broad.mit.edu GRCh37 16 21157352 21157352 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000261383.3:c.175C>A p.Pro59Thr p.P59T ENST00000261383 NM_017539.1 59 Cct/Act 0 Missense_Mutation G 42 DNAH3 SNP 16 G T 21064853 21064853 Broad SRCAP 10847 broad.mit.edu GRCh37 16 30735266 30735266 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000262518.4:c.4521A>C p.Leu1507= p.L1507= ENST00000262518 NM_006662.2 1507 ctA/ctC 0 Silent A 15 SRCAP SNP 16 A C 30642767 30642767 Broad TP53 7157 broad.mit.edu GRCh37 17 7577532 7577532 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.749C>T p.Pro250Leu p.P250L ENST00000269305 NM_001126112.2 250 cCc/cTc 0 Missense_Mutation G 43 TP53 SNP 17 G A 7518257 7518257 Broad AATF 26574 broad.mit.edu GRCh37 17 35310442 35310442 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000225402.5:c.540G>C p.Met180Ile p.M180I ENST00000225402 NM_012138.3 180 atG/atC 0 Missense_Mutation G 47 AATF SNP 17 G C 32384555 32384555 Broad NME2 4831 broad.mit.edu GRCh37 17 49245615 49245615 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000393193.2:c.484C>A p.His162Asn p.H162N ENST00000393193 162 Cac/Aac 0 Missense_Mutation C 17 NME1-NME2 SNP 17 C A 46600614 46600614 Broad MRPL54 116541 broad.mit.edu GRCh37 19 3762782 3762782 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000330133.4:c.84A>T p.Gly28= p.G28= ENST00000330133 NM_172251.2 28 ggA/ggT 0 Silent A 9 MRPL54 SNP 19 A T 3713782 3713782 Broad RANBP3 8498 broad.mit.edu GRCh37 19 5921277 5921277 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000340578.6:c.1265G>A p.Gly422Asp p.G422D ENST00000340578 NM_007322.2 422 gGc/gAc 0 Missense_Mutation C 26 RANBP3 SNP 19 C T 5872277 5872277 Broad CD209 30835 broad.mit.edu GRCh37 19 7807996 7807996 + missense_variant Missense_Mutation SNP C C T rs11465393 byFrequency;byHapMap TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000315599.7:c.1144G>A p.Ala382Thr p.A382T ENST00000315599 NM_021155.3 382 Gcc/Acc 0 Missense_Mutation C 28 CD209 SNP 19 C T 7713996 7713996 Broad MUC16 94025 broad.mit.edu GRCh37 19 9082391 9082391 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000397910.4:c.9424G>A p.Glu3142Lys p.E3142K ENST00000397910 NM_024690.2 3142 Gaa/Aaa 0 Missense_Mutation C 32 MUC16 SNP 19 C T 8943391 8943391 Broad ILF3 3609 broad.mit.edu GRCh37 19 10789834 10789834 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000449870.1:c.713C>G p.Thr238Ser p.T238S ENST00000449870 NM_017620.2 238 aCt/aGt 0 Missense_Mutation C 20 ILF3 SNP 19 C G 10650834 10650834 Broad MAP4K1 11184 broad.mit.edu GRCh37 19 39078422 39078422 + 3_prime_UTR_variant 3'UTR SNP G G A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000591517.1:c.*28C>T *10* ENST00000591517 NM_007181.4 0 Missense_Mutation G 35 MAP4K1 SNP 19 G A 43770262 43770262 Broad NLRP13 126204 broad.mit.edu GRCh37 19 56436377 56436377 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000342929.3:c.344A>C p.Gln115Pro p.Q115P ENST00000342929 NM_176810.2 115 cAa/cCa 0 Missense_Mutation T 63 NLRP13 SNP 19 T G 61128189 61128189 Broad GEN1 348654 broad.mit.edu GRCh37 2 17942806 17942806 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000381254.2:c.305C>G p.Ser102Cys p.S102C ENST00000381254 NM_001130009.1 102 tCt/tGt 0 Missense_Mutation C 32 GEN1 SNP 2 C G 17806287 17806287 Broad APOB 338 broad.mit.edu GRCh37 2 21224957 21224957 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000233242.1:c.13337G>C p.Arg4446Thr p.R4446T ENST00000233242 NM_000384.2 4446 aGa/aCa 0 Missense_Mutation C 32 APOB SNP 2 C G 21078462 21078462 Broad APOB 338 broad.mit.edu GRCh37 2 21234782 21234782 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000233242.1:c.4958C>A p.Ser1653Tyr p.S1653Y ENST00000233242 NM_000384.2 1653 tCt/tAt 0 Missense_Mutation G 33 APOB SNP 2 G T 21088287 21088287 Broad SULT1C2 6819 broad.mit.edu GRCh37 2 108910252 108910252 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000326853.5:c.129C>A p.Leu43= p.L43= ENST00000326853 NM_176825.2 43 ctC/ctA 0 Silent C 29 SULT1C2 SNP 2 C A 108276684 108276684 Broad TANC1 85461 broad.mit.edu GRCh37 2 160086283 160086283 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000263635.6:c.4346G>T p.Gly1449Val p.G1449V ENST00000263635 NM_033394.2 1449 gGc/gTc 0 Missense_Mutation G 42 TANC1 SNP 2 G T 159794529 159794529 Broad TANC1 85461 broad.mit.edu GRCh37 2 160087413 160087413 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000263635.6:c.5476C>G p.Leu1826Val p.L1826V ENST00000263635 NM_033394.2 1826 Ctg/Gtg 0 Missense_Mutation C 32 TANC1 SNP 2 C G 159795659 159795659 Broad COL5A2 1290 broad.mit.edu GRCh37 2 189927593 189927593 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000374866.3:c.1975C>T p.Pro659Ser p.P659S ENST00000374866 NM_000393.3 659 Ccg/Tcg 0 Missense_Mutation G 42 COL5A2 SNP 2 G A 189635838 189635838 Broad SPHKAP 80309 broad.mit.edu GRCh37 2 228855721 228855721 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000392056.3:c.4954G>C p.Glu1652Gln p.E1652Q ENST00000392056 NM_001142644.1 1652 Gaa/Caa 0 Missense_Mutation C 29 SPHKAP SNP 2 C G 228563965 228563965 Broad COL6A3 1293 broad.mit.edu GRCh37 2 238274364 238274364 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000295550.4:c.5815C>G p.Gln1939Glu p.Q1939E ENST00000295550 NM_004369.3 1939 Cag/Gag 0 Missense_Mutation G 48 COL6A3 SNP 2 G C 237939103 237939103 Broad TOP1 7150 broad.mit.edu GRCh37 20 39744959 39744959 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000361337.2:c.1749C>G p.Gly583= p.G583= ENST00000361337 NM_003286.2 583 ggC/ggG 0 Silent C 28 TOP1 SNP 20 C G 39178373 39178373 Broad PTGIS 5740 broad.mit.edu GRCh37 20 48130883 48130883 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000244043.4:c.905A>G p.Asn302Ser p.N302S ENST00000244043 NM_000961.3 302 aAt/aGt 0 Missense_Mutation T 52 PTGIS SNP 20 T C 47564290 47564290 Broad ADAMTS1 9510 broad.mit.edu GRCh37 21 28216753 28216753 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000284984.3:c.521G>A p.Gly174Glu p.G174E ENST00000284984 NM_006988.3 174 gGg/gAg 0 Missense_Mutation C 22 ADAMTS1 SNP 21 C T 27138624 27138624 Broad NUP210 23225 broad.mit.edu GRCh37 3 13363792 13363792 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000254508.5:c.4816G>C p.Glu1606Gln p.E1606Q ENST00000254508 NM_024923.3 1606 Gag/Cag 0 Missense_Mutation C 32 NUP210 SNP 3 C G 13338792 13338792 Broad UBP1 7342 broad.mit.edu GRCh37 3 33481234 33481234 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000283629.3:c.107G>T p.Ser36Ile p.S36I ENST00000283629 NM_014517.4 36 aGc/aTc 0 Missense_Mutation C 28 UBP1 SNP 3 C A 33456238 33456238 Broad ZBTB47 92999 broad.mit.edu GRCh37 3 42705322 42705322 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000232974.6:c.1771C>G p.Leu591Val p.L591V ENST00000232974 591 Ctg/Gtg 0 Missense_Mutation C 28 ZBTB47 SNP 3 C G 42680326 42680326 Broad COL7A1 1294 broad.mit.edu GRCh37 3 48614332 48614332 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000328333.8:c.5589C>T p.Gly1863= p.G1863= ENST00000328333 NM_000094.3 1863 ggC/ggT 0 Silent G 38 COL7A1 SNP 3 G A 48589336 48589336 Broad CELSR3 1951 broad.mit.edu GRCh37 3 48699192 48699192 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000164024.4:c.876G>A p.Gly292= p.G292= ENST00000164024 NM_001407.2 292 ggG/ggA 0 Silent C 26 CELSR3 SNP 3 C T 48674196 48674196 Broad KIAA2018 205717 broad.mit.edu GRCh37 3 113378850 113378850 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000316407.4:c.1679C>A p.Thr560Asn p.T560N ENST00000316407 NM_001009899.2 560 aCc/aAc 0 Missense_Mutation G 44 KIAA2018 SNP 3 G T 114861540 114861540 Broad IFT122 55764 broad.mit.edu GRCh37 3 129195645 129195645 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000296266.3:c.1300+1G>T p.X434_splice ENST00000296266 NM_052985.3 0 Splice_Site_SNP G 44 IFT122 SNP 3 G T 130678335 130678335 Broad PLCH1 23007 broad.mit.edu GRCh37 3 155211966 155211966 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000340059.7:c.2110T>G p.Cys704Gly p.C704G ENST00000340059 NM_001130960.1 704 Tgt/Ggt 0 Missense_Mutation A 5 PLCH1 SNP 3 A C 156694660 156694660 Broad BCHE 590 broad.mit.edu GRCh37 3 165548495 165548495 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000264381.3:c.327G>C p.Met109Ile p.M109I ENST00000264381 NM_000055.2 109 atG/atC 0 Missense_Mutation C 17 BCHE SNP 3 C G 167031189 167031189 Broad MFN1 55669 broad.mit.edu GRCh37 3 179096391 179096391 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000471841.1:c.1451T>C p.Leu484Pro p.L484P ENST00000471841 NM_033540.2 484 cTt/cCt 0 Missense_Mutation T 56 MFN1 SNP 3 T C 180579085 180579085 Broad CCDC39 339829 broad.mit.edu GRCh37 3 180349332 180349332 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000442201.2:c.1923A>G p.Arg641= p.R641= ENST00000442201 NM_181426.1 641 agA/agG 0 Silent T 50 CCDC39 SNP 3 T C 181832026 181832026 Broad EPHB3 2049 broad.mit.edu GRCh37 3 184290329 184290329 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000330394.2:c.221C>A p.Pro74His p.P74H ENST00000330394 NM_004443.3 74 cCc/cAc 0 Missense_Mutation C 22 EPHB3 SNP 3 C A 185773023 185773023 Broad HTT 3064 broad.mit.edu GRCh37 4 3221924 3221924 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000355072.5:c.7258T>A p.Trp2420Arg p.W2420R ENST00000355072 NM_002111.6 2420 Tgg/Agg 0 Missense_Mutation T 51 HTT SNP 4 T A 3191722 3191722 Broad CNGA1 1259 broad.mit.edu GRCh37 4 47938584 47938584 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000402813.3:c.2134C>T p.Arg712Ter p.R712* ENST00000402813 712 Cga/Tga 0 Nonsense_Mutation G 39 CNGA1 SNP 4 G A 47633341 47633341 Broad KIT 3815 broad.mit.edu GRCh37 4 55570053 55570053 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000288135.5:c.920T>G p.Val307Gly p.V307G ENST00000288135 NM_000222.2 307 gTa/gGa 0 Missense_Mutation T 57 KIT SNP 4 T G 55264810 55264810 Broad METAP1 23173 broad.mit.edu GRCh37 4 99960564 99960564 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000296411.6:c.380A>C p.Gln127Pro p.Q127P ENST00000296411 NM_015143.2 127 cAg/cCg 0 Missense_Mutation A 7 METAP1 SNP 4 A C 100179587 100179587 Broad GUCY1B3 2983 broad.mit.edu GRCh37 4 156723647 156723647 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000264424.8:c.1329C>G p.Ala443= p.A443= ENST00000264424 NM_000857.2 443 gcC/gcG 0 Silent C 21 GUCY1B3 SNP 4 C G 156943097 156943097 Broad SLC45A2 51151 broad.mit.edu GRCh37 5 33963864 33963864 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000296589.4:c.820G>T p.Val274Phe p.V274F ENST00000296589 NM_016180.3 274 Gtt/Ttt 0 Missense_Mutation C 20 SLC45A2 SNP 5 C A 33999621 33999621 Broad NIM1K broad.mit.edu GRCh37 5 43280291 43280291 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000512796.1:c.771G>C p.Leu257Phe p.L257F ENST00000512796 257 ttG/ttC 0 Missense_Mutation G 47 MGC42105 SNP 5 G C 43316048 43316048 Broad VCAN 1462 broad.mit.edu GRCh37 5 82834549 82834549 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000265077.3:c.5727A>G p.Ser1909= p.S1909= ENST00000265077 NM_004385.4 1909 tcA/tcG 0 Silent A 7 VCAN SNP 5 A G 82870305 82870305 Broad PCDHGB4 8641 broad.mit.edu GRCh37 5 140769422 140769422 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000519479.1:c.1971G>A p.Thr657= p.T657= ENST00000519479 NM_003736.2 657 acG/acA 0 Silent G 40 PCDHGB4 SNP 5 G A 140749606 140749606 Broad AFAP1L1 134265 broad.mit.edu GRCh37 5 148695844 148695844 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000296721.4:c.1245C>A p.Thr415= p.T415= ENST00000296721 NM_152406.2 415 acC/acA 0 Silent C 23 AFAP1L1 SNP 5 C A 148676037 148676037 Broad PPARGC1B 133522 broad.mit.edu GRCh37 5 149200070 149200070 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000309241.5:c.153C>A p.Asp51Glu p.D51E ENST00000309241 NM_133263.3 51 gaC/gaA 0 Missense_Mutation C 20 PPARGC1B SNP 5 C A 149180263 149180263 Broad TIGD6 81789 broad.mit.edu GRCh37 5 149375621 149375621 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000296736.3:c.291T>C p.Thr97= p.T97= ENST00000296736 NM_030953.3 97 acT/acC 0 Silent A 7 TIGD6 SNP 5 A G 149355814 149355814 Broad OR10C1 442194 broad.mit.edu GRCh37 6 29408712 29408712 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000444197.2:c.920C>T p.Thr307Met p.T307M ENST00000444197 NM_013941.3 307 aCg/aTg 0 Missense_Mutation C 19 OR10C1 SNP 6 C T 29516691 29516691 Broad PSORS1C2 170680 broad.mit.edu GRCh37 6 31105965 31105965 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000259845.4:c.174C>G p.Pro58= p.P58= ENST00000259845 NM_014069.2 58 ccC/ccG 0 Silent G 43 PSORS1C2 SNP 6 G C 31213944 31213944 Broad CUL9 23113 broad.mit.edu GRCh37 6 43174224 43174224 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000252050.4:c.5188C>T p.Arg1730Cys p.R1730C ENST00000252050 NM_015089.2 1730 Cgt/Tgt 0 Missense_Mutation C 23 CUL9 SNP 6 C T 43282202 43282202 Broad DOPEY1 23033 broad.mit.edu GRCh37 6 83845596 83845596 + splice_region_variant,synonymous_variant Splice_Region SNP T T C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000349129.2:c.3129T>C p.Asn1043= p.N1043= ENST00000349129 NM_015018.3 1043 aaT/aaC 0 Silent T 51 DOPEY1 SNP 6 T C 83902315 83902315 Broad PLEKHG1 57480 broad.mit.edu GRCh37 6 151152657 151152657 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000367328.1:c.2410C>A p.Pro804Thr p.P804T ENST00000367328 NM_001029884.1 804 Ccc/Acc 0 Missense_Mutation C 30 PLEKHG1 SNP 6 C A 151194350 151194350 Broad SKAP2 8935 broad.mit.edu GRCh37 7 26709751 26709751 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000345317.2:c.1048A>G p.Lys350Glu p.K350E ENST00000345317 NM_003930.3 350 Aaa/Gaa 0 Missense_Mutation T 61 SKAP2 SNP 7 T C 26676276 26676276 Broad TYW1 55253 broad.mit.edu GRCh37 7 66532332 66532332 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000359626.5:c.1216C>G p.Arg406Gly p.R406G ENST00000359626 NM_018264.3 406 Cgc/Ggc 0 Missense_Mutation C 31 TYW1 SNP 7 C G 66169767 66169767 Broad RSBN1L 222194 broad.mit.edu GRCh37 7 77407993 77407993 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000334955.8:c.2049T>A p.Ser683Arg p.S683R ENST00000334955 NM_198467.2 683 agT/agA 0 Missense_Mutation T 60 RSBN1L SNP 7 T A 77245929 77245929 Broad ANKRD7 56311 broad.mit.edu GRCh37 7 117879998 117879998 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000265224.4:c.748A>C p.Lys250Gln p.K250Q ENST00000265224 NM_019644.3 250 Aag/Cag 0 Missense_Mutation A 9 ANKRD7 SNP 7 A C 117667234 117667234 Broad SSMEM1 136263 broad.mit.edu GRCh37 7 129856049 129856049 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000297819.3:c.474A>G p.Glu158= p.E158= ENST00000297819 NM_145268.3 158 gaA/gaG 0 Silent A 3 C7orf45 SNP 7 A G 129643285 129643285 Broad CHPF2 54480 broad.mit.edu GRCh37 7 150934848 150934848 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000035307.2:c.1400G>C p.Ser467Thr p.S467T ENST00000035307 NM_019015.1 467 aGc/aCc 0 Missense_Mutation G 34 CHPF2 SNP 7 G C 150565781 150565781 Broad GSR 2936 broad.mit.edu GRCh37 8 30550572 30550572 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000221130.5:c.796G>C p.Val266Leu p.V266L ENST00000221130 NM_000637.3 266 Gta/Cta 0 Missense_Mutation C 18 GSR SNP 8 C G 30670114 30670114 Broad WHSC1L1 54904 broad.mit.edu GRCh37 8 38194909 38194909 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000317025.8:c.824G>C p.Trp275Ser p.W275S ENST00000317025 NM_023034.1 275 tGg/tCg 0 Missense_Mutation C 21 WHSC1L1 SNP 8 C G 38314066 38314066 Broad PXDNL 137902 broad.mit.edu GRCh37 8 52252182 52252182 + splice_donor_variant Splice_Site SNP A A G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000356297.4:c.4146+2T>C p.X1382_splice ENST00000356297 NM_144651.4 0 Splice_Site_SNP A 2 PXDNL SNP 8 A G 52414735 52414735 Broad CSMD3 114788 broad.mit.edu GRCh37 8 113569127 113569127 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000297405.5:c.4099A>T p.Ser1367Cys p.S1367C ENST00000297405 NM_198123.1 1367 Agt/Tgt 0 Missense_Mutation T 55 CSMD3 SNP 8 T A 113638303 113638303 Broad FREM1 158326 broad.mit.edu GRCh37 9 14851551 14851551 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000422223.2:c.883C>G p.Pro295Ala p.P295A ENST00000422223 NM_144966.5 295 Cca/Gca 0 Missense_Mutation G 41 FREM1 SNP 9 G C 14841551 14841551 Broad PMPCA 23203 broad.mit.edu GRCh37 9 139309088 139309088 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000371717.3:c.521C>T p.Pro174Leu p.P174L ENST00000371717 NM_015160.1 174 cCc/cTc 0 Missense_Mutation C 22 PMPCA SNP 9 C T 138428909 138428909 Broad LONRF3 79836 broad.mit.edu GRCh37 X 118109468 118109468 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000371628.3:c.725G>C p.Arg242Pro p.R242P ENST00000371628 NM_001031855.1 242 cGa/cCa 0 Missense_Mutation G 37 LONRF3 SNP 23 G C 117993496 117993496 Broad SLITRK4 139065 broad.mit.edu GRCh37 X 142716610 142716610 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000381779.4:c.2315T>C p.Ile772Thr p.I772T ENST00000381779 NM_001184750.1 772 aTa/aCa 0 Missense_Mutation A 16 SLITRK4 SNP 23 A G 142544276 142544276 Broad MAMLD1 10046 broad.mit.edu GRCh37 X 149639007 149639007 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x ENST00000432680.2:c.1087C>G p.Leu363Val p.L363V ENST00000432680 NM_001177465.2 363 Ctg/Gtg 0 Missense_Mutation C 20 MAMLD1 SNP 23 C G 149389665 149389665 Broad MSH2 4436 broad.mit.edu GRCh37 2 47705450 47705450 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000233146.2:c.2252del p.Gly751GlufsTer12 p.G751Efs*12 ENST00000233146 NM_000251.2 750 ttG/tt 0 Frame_Shift_Del G 47 MSH2 DEL 2 - G 47558954 47558954 Broad ACO1 48 hgsc.bcm.edu GRCh37 9 32407428 32407428 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000309951.6:c.266+1G>A p.X89_splice ENST00000309951 NM_002197.2 0 Splice_Site_SNP G 40 ACO1 SNP 9 G A 32397428 32397428 Baylor ALAS1 211 hgsc.bcm.edu GRCh37 3 52245331 52245331 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000394965.2:c.1363G>A p.Ala455Thr p.A455T ENST00000394965 NM_000688.5 455 Gcc/Acc 0 Missense_Mutation G 38 ALAS1 SNP 3 G A 52220371 52220371 Baylor AOC2 314 hgsc.bcm.edu GRCh37 17 40997405 40997405 + synonymous_variant Silent SNP T T A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000253799.3:c.762T>A p.Thr254= p.T254= ENST00000253799 NM_009590.2 254 acT/acA 0 Silent T 55 AOC2 SNP 17 T A 38250931 38250931 Baylor ARID2 196528 hgsc.bcm.edu GRCh37 12 46244263 46244263 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000334344.6:c.2357G>C p.Gly786Ala p.G786A ENST00000334344 NM_152641.2 786 gGc/gCc 0 Missense_Mutation G 42 ARID2 SNP 12 G C 44530530 44530530 Baylor ATP1A2 477 hgsc.bcm.edu GRCh37 1 160109760 160109760 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361216.3:c.3020G>C p.Arg1007Pro p.R1007P ENST00000361216 NM_000702.3 1007 cGg/cCg 0 Missense_Mutation G 39 ATP1A2 SNP 1 G C 158376384 158376384 Baylor ATP6AP1 537 hgsc.bcm.edu GRCh37 X 153662732 153662732 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000369762.2:c.863T>G p.Leu288Arg p.L288R ENST00000369762 NM_001183.4 288 cTc/cGc 0 Missense_Mutation T 54 ATP6AP1 SNP 23 T G 153315926 153315926 Baylor BCR 613 hgsc.bcm.edu GRCh37 22 23634794 23634794 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000305877.8:c.2849A>T p.Tyr950Phe p.Y950F ENST00000305877 NM_004327.3 950 tAc/tTc 0 Missense_Mutation A 14 BCR SNP 22 A T 21964794 21964794 Baylor BTAF1 9044 hgsc.bcm.edu GRCh37 10 93719831 93719831 + synonymous_variant Silent SNP C C T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000265990.6:c.1183C>T p.Leu395= p.L395= ENST00000265990 NM_003972.2 395 Cta/Tta 0 Silent C 28 BTAF1 SNP 10 C T 93709811 93709811 Baylor SLX4 84464 hgsc.bcm.edu GRCh37 16 3656512 3656512 + synonymous_variant Silent SNP G G C novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000294008.3:c.723C>G p.Val241= p.V241= ENST00000294008 NM_032444.2 241 gtC/gtG 0 Silent G 41 BTBD12 SNP 16 G C 3596513 3596513 Baylor MMS22L 253714 hgsc.bcm.edu GRCh37 6 97730274 97730274 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000275053.4:c.80C>T p.Pro27Leu p.P27L ENST00000275053 NM_198468.2 27 cCt/cTt 0 Missense_Mutation G 35 C6orf167 SNP 6 G A 97836995 97836995 Baylor COL11A2 1302 hgsc.bcm.edu GRCh37 6 33154591 33154591 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000374708.4:c.611A>T p.Asp204Val p.D204V ENST00000374708 NM_080681.2 204 gAt/gTt 0 Missense_Mutation T 50 COL11A2 SNP 6 T A 33262569 33262569 Baylor CPS1 1373 hgsc.bcm.edu GRCh37 2 211521299 211521299 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000430249.2:c.3627G>A p.Ser1209= p.S1209= ENST00000430249 NM_001122633.2 1209 tcG/tcA 0 Silent G 39 CPS1 SNP 2 G A 211229544 211229544 Baylor CTBP2 1488 hgsc.bcm.edu GRCh37 10 126678123 126678123 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000309035.6:c.2922del p.Lys974AsnfsTer33 p.K974Nfs*33 ENST00000309035 NM_022802.2 974 aaA/aa 0 Frame_Shift_Del T 60 CTBP2 DEL 10 T - 126668113 126668113 Baylor CTNND2 1501 hgsc.bcm.edu GRCh37 5 11082865 11082865 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000304623.8:c.2731G>A p.Ala911Thr p.A911T ENST00000304623 NM_001332.2 911 Gcg/Acg 0 Missense_Mutation C 27 CTNND2 SNP 5 C T 11135865 11135865 Baylor CYP2C18 1562 hgsc.bcm.edu GRCh37 10 96495161 96495161 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000285979.6:c.1433G>T p.Arg478Leu p.R478L ENST00000285979 NM_000772.2 478 cGt/cTt 0 Missense_Mutation G 40 CYP2C18 SNP 10 G T 96485151 96485151 Baylor DARS 1615 hgsc.bcm.edu GRCh37 2 136700956 136700956 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264161.4:c.415G>A p.Val139Ile p.V139I ENST00000264161 NM_001349.2 139 Gtt/Att 0 Missense_Mutation C 17 DARS SNP 2 C T 136417426 136417426 Baylor DDX54 79039 hgsc.bcm.edu GRCh37 12 113599733 113599733 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000314045.7:c.2265C>A p.Ser755Arg p.S755R ENST00000314045 NM_001111322.1 755 agC/agA 0 Missense_Mutation G 38 DDX54 SNP 12 G T 112084116 112084116 Baylor DOPEY1 23033 hgsc.bcm.edu GRCh37 6 83823129 83823129 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000349129.2:c.769C>A p.His257Asn p.H257N ENST00000349129 NM_015018.3 257 Cac/Aac 0 Missense_Mutation C 21 DOPEY1 SNP 6 C A 83879848 83879848 Baylor ERBB2 2064 hgsc.bcm.edu GRCh37 17 37881615 37881615 + synonymous_variant Silent SNP C C G novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269571.5:c.2685C>G p.Leu895= p.L895= ENST00000269571 895 ctC/ctG 0 Silent C 30 ERBB2 SNP 17 C G 35135141 35135141 Baylor F2R 2149 hgsc.bcm.edu GRCh37 5 76028813 76028813 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000319211.4:c.763C>T p.His255Tyr p.H255Y ENST00000319211 NM_001992.3 255 Cat/Tat 0 Missense_Mutation C 29 F2R SNP 5 C T 76064569 76064569 Baylor F2R 2149 hgsc.bcm.edu GRCh37 5 76028929 76028929 + synonymous_variant Silent SNP C C T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000319211.4:c.879C>T p.Ile293= p.I293= ENST00000319211 NM_001992.3 293 atC/atT 0 Silent C 29 F2R SNP 5 C T 76064685 76064685 Baylor F2R 2149 hgsc.bcm.edu GRCh37 5 76029177 76029177 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000319211.4:c.1127C>T p.Ser376Phe p.S376F ENST00000319211 NM_001992.3 376 tCt/tTt 0 Missense_Mutation C 32 F2R SNP 5 C T 76064933 76064933 Baylor FAM171B 165215 hgsc.bcm.edu GRCh37 2 187626639 187626639 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000304698.5:c.1570C>A p.Arg524Ser p.R524S ENST00000304698 NM_177454.3 524 Cgt/Agt 0 Missense_Mutation C 27 FAM171B SNP 2 C A 187334884 187334884 Baylor FGFR2 2263 hgsc.bcm.edu GRCh37 10 123276864 123276864 + synonymous_variant Silent SNP G G C novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358487.5:c.1053C>G p.Ser351= p.S351= ENST00000358487 NM_000141.4 351 tcC/tcG 0 Silent G 35 FGFR2 SNP 10 G C 123266854 123266854 Baylor GALNT3 2591 hgsc.bcm.edu GRCh37 2 166626717 166626717 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000392701.3:c.494G>T p.Gly165Val p.G165V ENST00000392701 NM_004482.3 165 gGa/gTa 0 Missense_Mutation C 30 GALNT3 SNP 2 C A 166334963 166334963 Baylor GTPBP1 9567 hgsc.bcm.edu GRCh37 22 39112841 39112841 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000216044.5:c.670G>C p.Val224Leu p.V224L ENST00000216044 NM_004286.4 224 Gta/Cta 0 Missense_Mutation G 48 GTPBP1 SNP 22 G C 37442787 37442787 Baylor HSPG2 3339 hgsc.bcm.edu GRCh37 1 22169322 22169322 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000374695.3:c.8851C>G p.Gln2951Glu p.Q2951E ENST00000374695 NM_005529.5 2951 Cag/Gag 0 Missense_Mutation G 46 HSPG2 SNP 1 G C 22041909 22041909 Baylor IGFBP6 3489 hgsc.bcm.edu GRCh37 12 53494924 53494924 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000301464.3:c.580G>T p.Gly194Cys p.G194C ENST00000301464 NM_002178.2 194 Ggc/Tgc 0 Missense_Mutation G 35 IGFBP6 SNP 12 G T 51781191 51781191 Baylor IMPG2 50939 hgsc.bcm.edu GRCh37 3 101038444 101038444 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000193391.7:c.318G>C p.Lys106Asn p.K106N ENST00000193391 NM_016247.3 106 aaG/aaC 0 Missense_Mutation C 20 IMPG2 SNP 3 C G 102521134 102521134 Baylor ITIH4 3700 hgsc.bcm.edu GRCh37 3 52852496 52852496 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000266041.4:c.2134A>G p.Met712Val p.M712V ENST00000266041 NM_002218.4 712 Atg/Gtg 0 Missense_Mutation T 51 ITIH4 SNP 3 T C 52827536 52827536 Baylor KDM3B 51780 hgsc.bcm.edu GRCh37 5 137761109 137761109 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000314358.5:c.4249G>C p.Val1417Leu p.V1417L ENST00000314358 NM_016604.3 1417 Gtt/Ctt 0 Missense_Mutation G 44 KDM3B SNP 5 G C 137789008 137789008 Baylor KRT85 3891 hgsc.bcm.edu GRCh37 12 52761140 52761141 + frameshift_variant Frame_Shift_Del DEL TT TT - novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 TT TT . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000257901.3:c.49_50del p.Asn17LeufsTer195 p.N17Lfs*195 ENST00000257901 NM_002283.3 17 AAc/c 0 Frame_Shift_Del TT 60 KRT85 DEL 12 TT - 51047408 51047407 Baylor LRRC1 55227 hgsc.bcm.edu GRCh37 6 53660122 53660122 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000370888.1:c.68C>A p.Ser23Ter p.S23* ENST00000370888 NM_018214.4 23 tCg/tAg 0 Nonsense_Mutation C 31 LRRC1 SNP 6 C A 53768081 53768081 Baylor MYOZ1 58529 hgsc.bcm.edu GRCh37 10 75394423 75394423 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000359322.4:c.321C>G p.Tyr107Ter p.Y107* ENST00000359322 NM_021245.3 107 taC/taG 0 Nonsense_Mutation G 48 MYOZ1 SNP 10 G C 75064429 75064429 Baylor NCF4 4689 hgsc.bcm.edu GRCh37 22 37263466 37263466 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000397147.4:c.304G>A p.Ala102Thr p.A102T ENST00000397147 NM_013416.3 102 Gcc/Acc 0 Missense_Mutation G 38 NCF4 SNP 22 G A 35593412 35593412 Baylor NDC80 10403 hgsc.bcm.edu GRCh37 18 2616527 2616527 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261597.4:c.1883del p.Asp628ValfsTer9 p.D628Vfs*9 ENST00000261597 NM_006101.2 628 gAt/gt 0 Frame_Shift_Del A 12 NDC80 DEL 18 A - 2606527 2606527 Baylor OR6A2 8590 hgsc.bcm.edu GRCh37 11 6816927 6816927 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000332601.3:c.13A>G p.Asn5Asp p.N5D ENST00000332601 NM_003696.2 5 Aac/Gac 0 Missense_Mutation T 62 OR6A2 SNP 11 T C 6773503 6773503 Baylor OR8K5 219453 hgsc.bcm.edu GRCh37 11 55927095 55927095 + synonymous_variant Silent SNP G G T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000313447.1:c.699C>A p.Gly233= p.G233= ENST00000313447 NM_001004058.2 233 ggC/ggA 0 Silent G 46 OR8K5 SNP 11 G T 55683671 55683671 Baylor OSBPL11 114885 hgsc.bcm.edu GRCh37 3 125271292 125271292 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000296220.5:c.1387A>G p.Met463Val p.M463V ENST00000296220 NM_022776.4 463 Atg/Gtg 0 Missense_Mutation T 50 OSBPL11 SNP 3 T C 126753982 126753982 Baylor PAX3 5077 hgsc.bcm.edu GRCh37 2 223084971 223084971 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000392069.2:c.1061A>T p.Tyr354Phe p.Y354F ENST00000392069 NM_001127366.2 354 tAc/tTc 0 Missense_Mutation T 57 PAX3 SNP 2 T A 222793215 222793215 Baylor PAX6 5080 hgsc.bcm.edu GRCh37 11 31822359 31822359 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000419022.1:c.445C>G p.Gln149Glu p.Q149E ENST00000419022 NM_001258462.1 149 Caa/Gaa 0 Missense_Mutation G 46 PAX6 SNP 11 G C 31778935 31778935 Baylor PRICKLE1 144165 hgsc.bcm.edu GRCh37 12 42858376 42858376 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000455697.1:c.1460G>C p.Ser487Thr p.S487T ENST00000455697 NM_001144883.1 487 aGc/aCc 0 Missense_Mutation C 28 PRICKLE1 SNP 12 C G 41144643 41144643 Baylor RAB27A 5873 hgsc.bcm.edu GRCh37 15 55527082 55527082 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000396307.2:c.51C>A p.Asp17Glu p.D17E ENST00000396307 NM_004580.4 17 gaC/gaA 0 Missense_Mutation G 36 RAB27A SNP 15 G T 53314374 53314374 Baylor RASGRF2 5924 hgsc.bcm.edu GRCh37 5 80409565 80409565 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000265080.4:c.2296C>G p.Pro766Ala p.P766A ENST00000265080 NM_006909.2 766 Ccc/Gcc 0 Missense_Mutation C 30 RASGRF2 SNP 5 C G 80445321 80445321 Baylor RDH12 145226 hgsc.bcm.edu GRCh37 14 68200554 68200554 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000551171.1:c.940C>T p.Arg314Trp p.R314W ENST00000551171 NM_152443.2 314 Cgg/Tgg 0 Missense_Mutation C 23 RDH12 SNP 14 C T 67270307 67270307 Baylor RPTOR 57521 hgsc.bcm.edu GRCh37 17 78704439 78704439 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000306801.3:c.587G>A p.Cys196Tyr p.C196Y ENST00000306801 NM_020761.2 196 tGc/tAc 0 Missense_Mutation G 46 RPTOR SNP 17 G A 76319034 76319034 Baylor SCN11A 11280 hgsc.bcm.edu GRCh37 3 38921582 38921582 + synonymous_variant Silent SNP G G C novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000302328.3:c.3252C>G p.Pro1084= p.P1084= ENST00000302328 NM_014139.2 1084 ccC/ccG 0 Silent G 47 SCN11A SNP 3 G C 38896586 38896586 Baylor SLC35F5 80255 hgsc.bcm.edu GRCh37 2 114500277 114500277 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000245680.2:c.742del p.Cys248AlafsTer22 p.C248Afs*22 ENST00000245680 NM_025181.2 248 Tgc/gc 0 Frame_Shift_Del A 5 SLC35F5 DEL 2 A - 114216747 114216747 Baylor SLC6A20 54716 hgsc.bcm.edu GRCh37 3 45801358 45801358 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358525.4:c.1620C>T p.Asp540= p.D540= ENST00000358525 NM_020208.3 540 gaC/gaT 0 Silent G 40 SLC6A20 SNP 3 G A 45776362 45776362 Baylor SLC7A3 84889 hgsc.bcm.edu GRCh37 X 70145724 70145724 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000374299.3:c.1799G>A p.Arg600His p.R600H ENST00000374299 600 cGc/cAc 0 Missense_Mutation C 27 SLC7A3 SNP 23 C T 70062449 70062449 Baylor SORCS3 22986 hgsc.bcm.edu GRCh37 10 106970924 106970924 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000369701.3:c.2291G>A p.Ser764Asn p.S764N ENST00000369701 NM_014978.1 764 aGc/aAc 0 Missense_Mutation G 34 SORCS3 SNP 10 G A 106960914 106960914 Baylor SRCAP 10847 hgsc.bcm.edu GRCh37 16 30732196 30732196 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262518.4:c.3150G>C p.Met1050Ile p.M1050I ENST00000262518 NM_006662.2 1050 atG/atC 0 Missense_Mutation G 47 SRCAP SNP 16 G C 30639697 30639697 Baylor STAT1 6772 hgsc.bcm.edu GRCh37 2 191844560 191844560 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361099.3:c.1665G>C p.Trp555Cys p.W555C ENST00000361099 NM_007315.3 555 tgG/tgC 0 Missense_Mutation C 26 STAT1 SNP 2 C G 191552805 191552805 Baylor TBXAS1 6916 hgsc.bcm.edu GRCh37 7 139661920 139661920 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000416849.2:c.1163C>T p.Ala388Val p.A388V ENST00000416849 NM_001166253.1 388 gCt/gTt 0 Missense_Mutation C 28 TBXAS1 SNP 7 C T 139308389 139308389 Baylor TM2D3 80213 hgsc.bcm.edu GRCh37 15 102182761 102182761 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000333202.3:c.665T>A p.Leu222Gln p.L222Q ENST00000333202 NM_078474.2 222 cTg/cAg 0 Missense_Mutation A 7 TM2D3 SNP 15 A T 100000284 100000284 Baylor TM4SF5 9032 hgsc.bcm.edu GRCh37 17 4685821 4685821 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000270560.3:c.282G>A p.Ser94= p.S94= ENST00000270560 NM_003963.2 94 tcG/tcA 0 Silent G 39 TM4SF5 SNP 17 G A 4632568 4632568 Baylor TOP1MT 116447 hgsc.bcm.edu GRCh37 8 144403385 144403394 + frameshift_variant Frame_Shift_Del DEL GCACTCTGTT GCACTCTGTT - novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 GCACTCTGTT GCACTCTGTT . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000329245.4:c.1123_1132del p.Asn375ArgfsTer27 p.N375Rfs*27 ENST00000329245 NM_052963.2 375 AACAGAGTGCcg/cg 0 Frame_Shift_Del GCACTCTGTT 42 TOP1MT DEL 8 GCACTCTGTT - 144474769 144474760 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C T rs28934576 Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.818G>A p.Arg273His p.R273H ENST00000269305 NM_001126112.2 273 cGt/cAt 0 Missense_Mutation C 19 TP53 SNP 17 C T 7517845 7517845 Baylor USH2A 7399 hgsc.bcm.edu GRCh37 1 215963604 215963604 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000307340.3:c.9979G>A p.Asp3327Asn p.D3327N ENST00000307340 NM_206933.2 3327 Gat/Aat 0 Missense_Mutation C 30 USH2A SNP 1 C T 214030227 214030227 Baylor USP28 57646 hgsc.bcm.edu GRCh37 11 113701646 113701646 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000003302.4:c.853G>T p.Glu285Ter p.E285* ENST00000003302 NM_020886.2 285 Gaa/Taa 0 Nonsense_Mutation C 29 USP28 SNP 11 C A 113206856 113206856 Baylor VAV1 7409 hgsc.bcm.edu GRCh37 19 6828900 6828900 + synonymous_variant Silent SNP C C G novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000602142.1:c.1254C>G p.Ser418= p.S418= ENST00000602142 NM_005428.3 418 tcC/tcG 0 Silent C 21 VAV1 SNP 19 C G 6779900 6779900 Baylor XRN1 54464 hgsc.bcm.edu GRCh37 3 142031519 142031519 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-36-1578-01 TCGA-36-1578-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264951.4:c.4739A>G p.His1580Arg p.H1580R ENST00000264951 NM_019001.3 1580 cAt/cGt 0 Missense_Mutation T 51 XRN1 SNP 3 T C 143514209 143514209 Baylor TP53 7157 genome.wustl.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C T rs28934576 Unknown TCGA-13-0804-01 TCGA-13-0804-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.818G>A p.Arg273His p.R273H ENST00000269305 NM_001126112.2 273 cGt/cAt 0 Missense_Mutation C 19 TP53 SNP 17 T T 7517845 7517845 WashU PER3 8863 genome.wustl.edu GRCh37 1 7880237 7880237 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361923.2:c.1697C>T p.Thr566Ile p.T566I ENST00000361923 NM_016831.1 566 aCt/aTt 0 Missense_Mutation C 20 PER3 SNP 1 C T 7802824 7802824 WashU KLRC3 3823 genome.wustl.edu GRCh37 12 10572978 10572978 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381903.2:c.172A>G p.Ile58Val p.I58V ENST00000381903 NM_007333.2 58 Ata/Gta 0 Missense_Mutation T 52 KLRC3 SNP 12 T C 10464245 10464245 WashU AKAP8L 26993 genome.wustl.edu GRCh37 19 15511127 15511127 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397410.5:c.1027G>T p.Gly343Cys p.G343C ENST00000397410 NM_014371.2 343 Ggc/Tgc 0 Missense_Mutation C 24 AKAP8L SNP 19 C A 15372127 15372127 WashU OR11H6 122748 genome.wustl.edu GRCh37 14 20692395 20692395 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315519.2:c.527T>A p.Val176Asp p.V176D ENST00000315519 NM_001004480.1 176 gTc/gAc 0 Missense_Mutation T 58 OR11H6 SNP 14 T A 19762235 19762235 WashU SLCO1A2 6579 genome.wustl.edu GRCh37 12 21453469 21453469 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307378.6:c.723G>A p.Trp241Ter p.W241* ENST00000307378 NM_134431.3 241 tgG/tgA 0 Nonsense_Mutation C 22 SLCO1A2 SNP 12 C T 21344736 21344736 WashU C2orf16 84226 genome.wustl.edu GRCh37 2 27801203 27801203 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000408964.2:c.1764A>G p.Val588= p.V588= ENST00000408964 NM_032266.3 588 gtA/gtG 0 Silent A 13 C2orf16 SNP 2 A G 27654707 27654707 WashU SYNJ1 8867 genome.wustl.edu GRCh37 21 34011221 34011221 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000433931.2:c.4029G>A p.Pro1343= p.P1343= ENST00000433931 NM_003895.3 1343 ccG/ccA 0 Silent C 27 SYNJ1 SNP 21 C T 32933092 32933092 WashU DHX57 90957 genome.wustl.edu GRCh37 2 39085968 39085968 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295373.6:c.1422A>T p.Ala474= p.A474= ENST00000295373 NM_198963.1 474 gcA/gcT 0 Silent T 51 DHX57 SNP 2 T A 38939472 38939472 WashU KRT86 3892 genome.wustl.edu GRCh37 12 52699059 52699059 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000293525.5:c.771C>A p.Thr257= p.T257= ENST00000293525 NM_002284.3 257 acC/acA 0 Silent C 24 KRT86 SNP 12 C A 50985326 50985326 WashU TET1 80312 genome.wustl.edu GRCh37 10 70406255 70406255 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373644.4:c.3769G>T p.Val1257Phe p.V1257F ENST00000373644 NM_030625.2 1257 Gtt/Ttt 0 Missense_Mutation G 44 TET1 SNP 10 G T 70076261 70076261 WashU SPATA31D5P 347127 genome.wustl.edu GRCh37 9 84530617 84530617 + non_coding_transcript_exon_variant RNA SNP A A T novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000527857.1:n.639A>T *213* ENST00000527857 0 Missense_Mutation A 12 ENSG00000214931 SNP 9 A T 83720437 83720437 WashU CYP3A4 1576 genome.wustl.edu GRCh37 7 99361631 99361631 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336411.2:c.873C>T p.Ser291= p.S291= ENST00000336411 NM_001202855.2 291 tcC/tcT 0 Silent G 39 CYP3A4 SNP 7 G A 99199567 99199567 WashU PCDH19 57526 genome.wustl.edu GRCh37 X 99662583 99662583 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373034.4:c.1013A>T p.Asp338Val p.D338V ENST00000373034 NM_001184880.1 338 gAc/gTc 0 Missense_Mutation T 58 PCDH19 SNP 23 T A 99549239 99549239 WashU TARSL2 123283 genome.wustl.edu GRCh37 15 102226205 102226205 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335968.3:c.1381C>T p.Leu461Phe p.L461F ENST00000335968 NM_152334.2 461 Ctc/Ttc 0 Missense_Mutation G 36 TARSL2 SNP 15 G A 100043728 100043728 WashU NALCN 259232 genome.wustl.edu GRCh37 13 101714442 101714442 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000251127.6:c.4633C>T p.Arg1545Trp p.R1545W ENST00000251127 NM_052867.2 1545 Cgg/Tgg 0 Missense_Mutation G 39 NALCN SNP 13 A A 100512443 100512443 WashU GPRASP1 9737 genome.wustl.edu GRCh37 X 101910812 101910812 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000537097.1:c.1971G>C p.Gly657= p.G657= ENST00000537097 NM_001184727.1 657 ggG/ggC 0 Silent G 41 GPRASP1 SNP 23 G C 101797468 101797468 WashU XPNPEP1 7511 genome.wustl.edu GRCh37 10 111628446 111628446 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000502935.1:c.1798C>T p.Leu600= p.L600= ENST00000502935 600 Ctg/Ttg 0 Silent G 35 XPNPEP1 SNP 10 G A 111618436 111618436 WashU ATG3 64422 genome.wustl.edu GRCh37 3 112253138 112253138 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000283290.5:c.841G>T p.Gly281Trp p.G281W ENST00000283290 NM_022488.4 281 Ggg/Tgg 0 Missense_Mutation C 24 ATG3 SNP 3 C A 113735828 113735828 WashU MCAM 4162 genome.wustl.edu GRCh37 11 119183335 119183335 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264036.4:c.763G>A p.Glu255Lys p.E255K ENST00000264036 NM_006500.2 255 Gaa/Aaa 0 Missense_Mutation C 30 MCAM SNP 11 C T 118688545 118688545 WashU PTPRZ1 5803 genome.wustl.edu GRCh37 7 121671540 121671540 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393386.2:c.5093C>T p.Ala1698Val p.A1698V ENST00000393386 NM_001206838.1 1698 gCa/gTa 0 Missense_Mutation C 25 PTPRZ1 SNP 7 C T 121458776 121458776 WashU CASR 846 genome.wustl.edu GRCh37 3 121994706 121994706 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000498619.1:c.1425G>C p.Glu475Asp p.E475D ENST00000498619 NM_001178065.1 475 gaG/gaC 0 Missense_Mutation G 34 CASR SNP 3 G C 123477396 123477396 WashU FAM83A 84985 genome.wustl.edu GRCh37 8 124219413 124219413 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000518448.1:c.790G>A p.Gly264Arg p.G264R ENST00000518448 264 Gga/Aga 0 Missense_Mutation G 39 FAM83A SNP 8 G A 124288594 124288594 WashU COPG1 22820 genome.wustl.edu GRCh37 3 128971125 128971125 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314797.6:c.92C>T p.Ala31Val p.A31V ENST00000314797 NM_016128.3 31 gCc/gTc 0 Missense_Mutation C 26 COPG SNP 3 C T 130453815 130453815 WashU ZBED6CL 113763 genome.wustl.edu GRCh37 7 150027803 150027803 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343855.4:c.310G>C p.Val104Leu p.V104L ENST00000343855 NM_138434.2 104 Gtg/Ctg 0 Missense_Mutation G 40 C7orf29 SNP 7 G C 149658736 149658736 WashU ADCY10 55811 genome.wustl.edu GRCh37 1 167852758 167852758 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367851.4:c.937G>A p.Ala313Thr p.A313T ENST00000367851 NM_018417.4 313 Gcc/Acc 0 Missense_Mutation C 28 ADCY10 SNP 1 C T 166119382 166119382 WashU CEP350 9857 genome.wustl.edu GRCh37 1 180023608 180023608 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367607.3:c.5233G>T p.Gly1745Cys p.G1745C ENST00000367607 NM_014810.4 1745 Ggt/Tgt 0 Missense_Mutation G 47 CEP350 SNP 1 G T 178290231 178290231 WashU CPS1 1373 genome.wustl.edu GRCh37 2 211441115 211441115 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000430249.2:c.300C>G p.Leu100= p.L100= ENST00000430249 NM_001122633.2 100 ctC/ctG 0 Silent C 29 CPS1 SNP 2 C G 211149360 211149360 WashU BRCA1 672 genome.wustl.edu GRCh37 17 41258544 41258544 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 G G G C G G Unknown Valid Somatic Phase_III PCR 454_PCR_WGA dbGAP Sanger_PCR_WGA ENST00000357654.3:c.141C>G p.Cys47Trp p.C47W ENST00000357654 NM_007294.3 47 tgC/tgG 0 Missense_Mutation G 46 BRCA1 SNP 17 G C 38512070 38512070 WashU MSMB 4477 genome.wustl.edu GRCh37 10 51562381 51562381 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358559.2:c.326T>A p.Val109Asp p.V109D ENST00000358559 NM_002443.3 109 gTc/gAc 0 Missense_Mutation T 58 MSMB SNP 10 T A 51232387 51232387 WashU MSMB 4477 genome.wustl.edu GRCh37 10 51562388 51562388 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358559.2:c.333A>G p.Glu111= p.E111= ENST00000358559 NM_002443.3 111 gaA/gaG 0 Missense_Mutation A 4 MSMB SNP 10 A G 51232394 51232394 WashU RTN1 6252 genome.wustl.edu GRCh37 14 60193673 60193673 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000267484.5:c.1729G>A p.Ala577Thr p.A577T ENST00000267484 NM_021136.2 577 Gcc/Acc 0 Missense_Mutation C 27 RTN1 SNP 14 C T 59263426 59263426 WashU TRIP11 9321 genome.wustl.edu GRCh37 14 92441013 92441014 + missense_variant Missense_Mutation DNP GG GG CC Unknown TCGA-13-0804-01 TCGA-13-0804-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000267622.4:c.5531_5532inv p.Pro1844Arg p.P1844R ENST00000267622 NM_004239.3 1844 cCC/cGG 0 Missense GG 47 TRIP11 DNP 14 GG CC 91510767 91510766 WashU CYP2A7P1 1550 genome.wustl.edu GRCh37 19 41533053 41533053 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000595391.1:n.290C>T *97* ENST00000595391 0 Silent G 38 CYP2A7P1 SNP 19 G A 46224893 46224893 WashU NGEF 25791 genome.wustl.edu GRCh37 2 233757633 233757633 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264051.3:c.1117C>A p.Gln373Lys p.Q373K ENST00000264051 NM_019850.2 373 Cag/Aag 0 Missense_Mutation G 47 NGEF SNP 2 G T 233465877 233465877 WashU PTGS1 5742 genome.wustl.edu GRCh37 9 125140732 125140732 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000362012.2:c.232C>T p.Arg78Trp p.R78W ENST00000362012 NM_000962.3 78 Cgg/Tgg 0 Missense_Mutation C 23 PTGS1 SNP 9 T T 124180553 124180553 WashU GPR101 83550 genome.wustl.edu GRCh37 X 136113808 136113808 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0804-01 TCGA-13-0804-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298110.1:c.26C>T p.Thr9Met p.T9M ENST00000298110 NM_054021.1 9 aCg/aTg 0 Missense_Mutation G 40 GPR101 SNP 23 G A 135941474 135941474 WashU CCNT1 904 genome.wustl.edu GRCh37 12 49087916 49087916 + frameshift_variant Frame_Shift_Del DEL C C - Unknown TCGA-13-0804-01 TCGA-13-0804-10 C C C - C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000261900.3:c.1081del p.Asp361IlefsTer29 p.D361Ifs*29 ENST00000261900 NM_001240.3 361 Gat/at 0 Frame_Shift_Del C 29 CCNT1 DEL 12 C - 47374183 47374183 WashU IGHD 3495 genome.wustl.edu GRCh37 14 106311724 106311726 + inframe_deletion In_Frame_Del DEL CTC CTC - Unknown TCGA-13-0804-01 TCGA-13-0804-10 CTC CTC CTC - CTC CTC Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000390556.2:c.285_287del p.Glu96del p.E96del ENST00000390556 96 GAG/- 0 In_Frame_Del CTC 32 IGHD DEL 14 CTC - 105382771 105382769 WashU CBLC 23624 genome.wustl.edu GRCh37 19 45296791 45296791 + frameshift_variant Frame_Shift_Del DEL A A - Unknown TCGA-13-0804-01 TCGA-13-0804-10 A A A - A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000270279.3:c.1198del p.Ser400ValfsTer55 p.S400Vfs*55 ENST00000270279 NM_012116.3 400 Agt/gt 0 Frame_Shift_Del A 11 CBLC DEL 19 A - 49988631 49988631 WashU TNFRSF9 3604 broad.mit.edu GRCh37 1 8000029 8000029 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000377507.3:c.26T>A p.Val9Glu p.V9E ENST00000377507 NM_001561.5 9 gTa/gAa 0 Missense_Mutation A 14 TNFRSF9 SNP 1 A T 7922616 7922616 Broad YBX1 4904 broad.mit.edu GRCh37 1 43149119 43149119 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000321358.7:c.212G>T p.Gly71Val p.G71V ENST00000321358 NM_004559.3 71 gGa/gTa 0 Missense_Mutation G 41 YBX1 SNP 1 G T 42921706 42921706 Broad NPR1 4881 broad.mit.edu GRCh37 1 153659765 153659765 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000368680.3:c.2025G>A p.Lys675= p.K675= ENST00000368680 NM_000906.3 675 aaG/aaA 0 Silent G 33 NPR1 SNP 1 G A 151926389 151926389 Broad PFKP 5214 broad.mit.edu GRCh37 10 3174604 3174604 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000381125.4:c.1881G>C p.Lys627Asn p.K627N ENST00000381125 NM_002627.4 627 aaG/aaC 0 Missense_Mutation G 33 PFKP SNP 10 G C 3164604 3164604 Broad KIAA1462 57608 broad.mit.edu GRCh37 10 30316939 30316939 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000375377.1:c.2138C>G p.Pro713Arg p.P713R ENST00000375377 NM_020848.2 713 cCg/cGg 0 Missense_Mutation G 39 KIAA1462 SNP 10 G C 30356945 30356945 Broad AGAP8 728404 broad.mit.edu GRCh37 10 51225033 51225033 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000425119.2:c.1949T>A p.Ile650Asn p.I650N ENST00000425119 NM_001077686.2 650 aTc/aAc 0 Missense_Mutation A 12 AGAP8 SNP 10 A T 50895039 50895039 Broad PSD 5662 broad.mit.edu GRCh37 10 104176300 104176300 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000020673.5:c.496G>A p.Ala166Thr p.A166T ENST00000020673 NM_001270966.1 166 Gcc/Acc 0 Missense_Mutation C 26 PSD SNP 10 C T 104166290 104166290 Broad OR6A2 8590 broad.mit.edu GRCh37 11 6816144 6816144 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000332601.3:c.796C>T p.Arg266Trp p.R266W ENST00000332601 NM_003696.2 266 Cgg/Tgg 0 Missense_Mutation G 37 OR6A2 SNP 11 G A 6772720 6772720 Broad A2ML1 144568 broad.mit.edu GRCh37 12 8990997 8990997 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000299698.7:c.921G>A p.Ala307= p.A307= ENST00000299698 NM_144670.4 307 gcG/gcA 0 Silent G 40 A2ML1 SNP 12 G A 8882264 8882264 Broad PDE1B 5153 broad.mit.edu GRCh37 12 54970410 54970410 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000243052.3:c.1432G>A p.Val478Met p.V478M ENST00000243052 NM_000924.3 478 Gtg/Atg 0 Missense_Mutation G 48 PDE1B SNP 12 G A 53256677 53256677 Broad TIMELESS 8914 broad.mit.edu GRCh37 12 56817082 56817082 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000553532.1:c.2268T>C p.Ser756= p.S756= ENST00000553532 756 agT/agC 0 Silent A 6 TIMELESS SNP 12 A G 55103349 55103349 Broad MTIF3 219402 broad.mit.edu GRCh37 13 28011388 28011388 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000381116.1:c.483G>T p.Leu161= p.L161= ENST00000381116 161 ctG/ctT 0 Silent C 29 MTIF3 SNP 13 C A 26909388 26909388 Broad PROSER1 80209 broad.mit.edu GRCh37 13 39586999 39586999 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000352251.3:c.2390C>G p.Pro797Arg p.P797R ENST00000352251 NM_025138.4 797 cCa/cGa 0 Missense_Mutation G 47 C13orf23 SNP 13 G C 38484999 38484999 Broad HOMEZ 57594 broad.mit.edu GRCh37 14 23745122 23745122 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000357460.5:c.1315C>A p.Pro439Thr p.P439T ENST00000357460 NM_020834.2 439 Cca/Aca 0 Missense_Mutation G 44 HOMEZ SNP 14 G T 22814962 22814962 Broad CLEC14A 161198 broad.mit.edu GRCh37 14 38724433 38724433 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000342213.2:c.795C>G p.Asp265Glu p.D265E ENST00000342213 NM_175060.2 265 gaC/gaG 0 Missense_Mutation G 36 CLEC14A SNP 14 G C 37794184 37794184 Broad SYNE2 23224 broad.mit.edu GRCh37 14 64689908 64689908 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000358025.3:c.20192A>C p.Gln6731Pro p.Q6731P ENST00000358025 NM_182914.2 6731 cAa/cCa 0 Missense_Mutation A 5 SYNE2 SNP 14 A C 63759661 63759661 Broad OCA2 4948 broad.mit.edu GRCh37 15 28228549 28228549 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000354638.3:c.1445C>G p.Thr482Ser p.T482S ENST00000354638 NM_000275.2 482 aCt/aGt 0 Missense_Mutation G 36 OCA2 SNP 15 G C 25902144 25902144 Broad INO80 54617 broad.mit.edu GRCh37 15 41276060 41276060 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000361937.3:c.4137C>T p.Asp1379= p.D1379= ENST00000361937 1379 gaC/gaT 0 Silent G 48 INO80 SNP 15 G A 39063352 39063352 Broad MGRN1 23295 broad.mit.edu GRCh37 16 4718285 4718285 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000262370.7:c.698C>T p.Ser233Phe p.S233F ENST00000262370 NM_015246.3 233 tCt/tTt 0 Missense_Mutation C 32 MGRN1 SNP 16 C T 4658286 4658286 Broad IL21R 50615 broad.mit.edu GRCh37 16 27460252 27460252 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000337929.3:c.1265G>A p.Gly422Glu p.G422E ENST00000337929 NM_181078.2 422 gGg/gAg 0 Missense_Mutation G 43 IL21R SNP 16 G A 27367753 27367753 Broad RBL2 5934 broad.mit.edu GRCh37 16 53504077 53504077 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000262133.6:c.2225C>T p.Thr742Met p.T742M ENST00000262133 NM_005611.3 742 aCg/aTg 0 Missense_Mutation C 19 RBL2 SNP 16 C T 52061578 52061578 Broad ZNF319 57567 broad.mit.edu GRCh37 16 58030670 58030670 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000299237.2:c.1500C>T p.Asp500= p.D500= ENST00000299237 NM_020807.1 500 gaC/gaT 0 Silent G 44 ZNF319 SNP 16 G A 56588171 56588171 Broad HYDIN 54768 broad.mit.edu GRCh37 16 70954717 70954718 + missense_variant Missense_Mutation DNP GT GT AG novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000393567.2:c.7561_7562delinsCT p.Thr2521Leu p.T2521L ENST00000393567 NM_001270974.1 2521 ACg/CTg 0 Missense_Mutation GT 40 HYDIN DNP 16 GT AG 69512219 69512218 Broad KRTAP9-3 83900 broad.mit.edu GRCh37 17 39388981 39388981 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000411528.2:c.228T>C p.Cys76= p.C76= ENST00000411528 NM_031962.2 76 tgT/tgC 0 Silent T 57 KRTAP9-3 SNP 17 T C 36642507 36642507 Broad GPR142 350383 broad.mit.edu GRCh37 17 72363841 72363841 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000335666.4:c.197G>A p.Trp66Ter p.W66* ENST00000335666 NM_181790.1 66 tGg/tAg 0 Nonsense_Mutation G 47 GPR142 SNP 17 G A 69875436 69875436 Broad DNAH17 8632 broad.mit.edu GRCh37 17 76455884 76455884 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000389840.5:c.9593C>G p.Ala3198Gly p.A3198G ENST00000389840 3198 gCc/gGc 0 Missense_Mutation G 42 DNAH17 SNP 17 G C 73967479 73967479 Broad CETN1 1068 broad.mit.edu GRCh37 18 580898 580898 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000327228.3:c.490C>T p.Arg164Trp p.R164W ENST00000327228 NM_004066.1 164 Cgg/Tgg 0 Missense_Mutation C 31 CETN1 SNP 18 C T 570898 570898 Broad ALPK2 115701 broad.mit.edu GRCh37 18 56203552 56203552 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000361673.3:c.3867C>T p.Ala1289= p.A1289= ENST00000361673 NM_052947.3 1289 gcC/gcT 0 Silent G 43 ALPK2 SNP 18 G A 54354532 54354532 Broad FBXO15 201456 broad.mit.edu GRCh37 18 71740792 71740792 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000419743.2:c.1437G>T p.Leu479= p.L479= ENST00000419743 NM_001142958.1 479 ctG/ctT 0 Silent C 21 FBXO15 SNP 18 C A 69891772 69891772 Broad TUBB4A 10382 broad.mit.edu GRCh37 19 6495297 6495297 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000264071.2:c.1213G>A p.Glu405Lys p.E405K ENST00000264071 405 Gag/Aag 0 Missense_Mutation C 31 TUBB4 SNP 19 C T 6446297 6446297 Broad ZNF441 126068 broad.mit.edu GRCh37 19 11891822 11891822 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000357901.4:c.1183G>C p.Glu395Gln p.E395Q ENST00000357901 NM_152355.2 395 Gaa/Caa 0 Missense_Mutation G 45 ZNF441 SNP 19 G C 11752822 11752822 Broad TRMT1 55621 broad.mit.edu GRCh37 19 13220216 13220216 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000592062.1:c.1376C>T p.Thr459Ile p.T459I ENST00000592062 459 aCa/aTa 0 Missense_Mutation G 48 TRMT1 SNP 19 G A 13081216 13081216 Broad RYR1 6261 broad.mit.edu GRCh37 19 38933062 38933062 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000359596.3:c.239T>A p.Met80Lys p.M80K ENST00000359596 80 aTg/aAg 0 Missense_Mutation T 51 RYR1 SNP 19 T A 43624902 43624902 Broad ARHGAP35 2909 broad.mit.edu GRCh37 19 47423274 47423275 + missense_variant Missense_Mutation DNP CC CC TT novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000404338.3:c.1342_1343delinsTT p.Pro448Phe p.P448F ENST00000404338 NM_004491.4 448 CCc/TTc 0 Missense_Mutation CC 30 GRLF1 DNP 19 CC TT 52115115 52115114 Broad ARHGAP35 2909 broad.mit.edu GRCh37 19 47423688 47423688 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000404338.3:c.1756C>T p.Gln586Ter p.Q586* ENST00000404338 NM_004491.4 586 Cag/Tag 0 Nonsense_Mutation C 29 GRLF1 SNP 19 C T 52115528 52115528 Broad ZNF611 81856 broad.mit.edu GRCh37 19 53208487 53208487 + synonymous_variant Silent SNP T T A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000543227.1:c.1821A>T p.Ser607= p.S607= ENST00000543227 NM_001161499.1 607 tcA/tcT 0 Silent T 51 ZNF611 SNP 19 T A 57900299 57900299 Broad ZNF776 284309 broad.mit.edu GRCh37 19 58265193 58265193 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000317178.5:c.695G>C p.Arg232Thr p.R232T ENST00000317178 NM_173632.3 232 aGa/aCa 0 Missense_Mutation G 33 ZNF776 SNP 19 G C 62957005 62957005 Broad INPP5D 3635 broad.mit.edu GRCh37 2 233990542 233990542 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000359570.5:c.437C>G p.Ser146Ter p.S146* ENST00000359570 146 tCa/tGa 0 Nonsense_Mutation C 29 INPP5D SNP 2 C G 233698786 233698786 Broad ZNF217 7764 broad.mit.edu GRCh37 20 52192307 52192307 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000371471.2:c.2996G>C p.Cys999Ser p.C999S ENST00000371471 999 tGt/tCt 0 Missense_Mutation C 17 ZNF217 SNP 20 C G 51625714 51625714 Broad KREMEN1 83999 broad.mit.edu GRCh37 22 29537934 29537934 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000327813.5:c.1262C>T p.Ser421Phe p.S421F ENST00000327813 NM_032045.4 421 tCc/tTc 0 Missense_Mutation C 30 KREMEN1 SNP 22 C T 27867934 27867934 Broad PIK3IP1 113791 broad.mit.edu GRCh37 22 31679151 31679151 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000215912.5:c.711G>C p.Val237= p.V237= ENST00000215912 NM_052880.4 237 gtG/gtC 0 Silent C 21 PIK3IP1 SNP 22 C G 30009151 30009151 Broad SENP7 57337 broad.mit.edu GRCh37 3 101050938 101050938 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000394095.2:c.2589C>T p.Leu863= p.L863= ENST00000394095 NM_020654.3 863 ctC/ctT 0 Silent G 37 SENP7 SNP 3 G A 102533628 102533628 Broad ECE2 9718 broad.mit.edu GRCh37 3 184001640 184001640 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000402825.3:c.1238C>T p.Thr413Met p.T413M ENST00000402825 NM_014693.3 413 aCg/aTg 0 Missense_Mutation C 19 ECE2 SNP 3 C T 185484334 185484334 Broad WDR55 54853 broad.mit.edu GRCh37 5 140048817 140048817 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000358337.5:c.814A>C p.Thr272Pro p.T272P ENST00000358337 NM_017706.4 272 Act/Cct 0 Missense_Mutation A 6 WDR55 SNP 5 A C 140029001 140029001 Broad MUC21 394263 broad.mit.edu GRCh37 6 30951741 30951741 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000376296.3:c.6G>A p.Lys2= p.K2= ENST00000376296 NM_001010909.2 2 aaG/aaA 0 Silent G 33 MUC21 SNP 6 G A 31059720 31059720 Broad MUC21 394263 broad.mit.edu GRCh37 6 30954260 30954260 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000376296.3:c.308G>A p.Ser103Asn p.S103N ENST00000376296 NM_001010909.2 103 aGc/aAc 0 Missense_Mutation G 34 MUC21 SNP 6 G A 31062239 31062239 Broad MUC21 394263 broad.mit.edu GRCh37 6 30954433 30954433 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000376296.3:c.481G>A p.Glu161Lys p.E161K ENST00000376296 NM_001010909.2 161 Gag/Aag 0 Missense_Mutation G 45 MUC21 SNP 6 G A 31062412 31062412 Broad GPR141 353345 broad.mit.edu GRCh37 7 37780789 37780789 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000447769.1:c.794A>G p.Tyr265Cys p.Y265C ENST00000447769 265 tAt/tGt 0 Missense_Mutation A 16 GPR141 SNP 7 A G 37747314 37747314 Broad MAGI2 9863 broad.mit.edu GRCh37 7 77885616 77885616 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000354212.4:c.1691G>A p.Arg564Gln p.R564Q ENST00000354212 NM_012301.3 564 cGg/cAg 0 Missense_Mutation C 23 MAGI2 SNP 7 C T 77723552 77723552 Broad TRPV5 56302 broad.mit.edu GRCh37 7 142625188 142625188 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000265310.1:c.904C>A p.Arg302= p.R302= ENST00000265310 NM_019841.4 302 Cga/Aga 0 Silent G 40 TRPV5 SNP 7 G T 142335310 142335310 Broad ZNF212 7988 broad.mit.edu GRCh37 7 148951470 148951470 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000335870.2:c.1452G>A p.Leu484= p.L484= ENST00000335870 NM_012256.3 484 ctG/ctA 0 Silent G 47 ZNF212 SNP 7 G A 148582403 148582403 Broad CACNA1F 778 broad.mit.edu GRCh37 X 49065030 49065030 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000376265.2:c.5101G>A p.Gly1701Arg p.G1701R ENST00000376265 NM_005183.2 1701 Ggg/Agg 0 Missense_Mutation C 22 CACNA1F SNP 23 C T 48951974 48951974 Broad ARMCX2 9823 broad.mit.edu GRCh37 X 100912140 100912140 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown x x x ENST00000328766.5:c.435G>A p.Val145= p.V145= ENST00000328766 NM_014782.5 145 gtG/gtA 0 Silent C 29 ARMCX2 SNP 23 C T 100798796 100798796 Broad SUSD2 56241 broad.mit.edu GRCh37 22 24579157 24579158 + frameshift_variant Frame_Shift_Del DEL GA GA - novel Unknown TCGA-25-2398-01 TCGA-25-2398-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000358321.3:c.209_210del p.Gly70ValfsTer28 p.G70Vfs*28 ENST00000358321 NM_019601.3 70 gGA/g 0 Frame_Shift_Del GA 41 SUSD2 DEL 22 - GA 22909158 22909157 Broad ABCC1 4363 hgsc.bcm.edu GRCh37 16 16200705 16200705 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399410.3:c.2846A>T p.Glu949Val p.E949V ENST00000399410 NM_004996.3 949 gAg/gTg 0 Missense_Mutation A 11 ABCC1 SNP 16 A T 16108206 16108206 Baylor ADAM8 101 hgsc.bcm.edu GRCh37 10 135076678 135076678 + synonymous_variant Silent SNP T T C novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000445355.3:c.2457A>G p.Gly819= p.G819= ENST00000445355 NM_001109.4 819 ggA/ggG 0 Missense_Mutation T 54 ADAM8 SNP 10 T C 134926669 134926669 Baylor ASTN1 460 hgsc.bcm.edu GRCh37 1 176838004 176838004 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000361833.2:c.3623G>A p.Arg1208Gln p.R1208Q ENST00000361833 1208 cGa/cAa 0 Missense_Mutation C 31 ASTN1 SNP 1 C T 175104627 175104627 Baylor ATP8A2 51761 hgsc.bcm.edu GRCh37 13 26043210 26043211 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381655.2:c.175dup p.Tyr59LeufsTer32 p.Y59Lfs*32 ENST00000381655 NM_016529.4 58 att/aTtt 0 Frame_Shift_Ins - 8 ATP8A2 INS 13 - T 24941211 24941210 Baylor C5orf42 65250 hgsc.bcm.edu GRCh37 5 37185035 37185035 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000425232.2:c.4336C>G p.Pro1446Ala p.P1446A ENST00000425232 NM_023073.3 1446 Cca/Gca 0 Missense_Mutation G 41 C5orf42 SNP 5 G C 37220792 37220792 Baylor FAM220A 84792 hgsc.bcm.edu GRCh37 7 6370570 6370570 + synonymous_variant Silent SNP A A G rs61996356 Unknown TCGA-04-1350-01 TCGA-04-1350-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000313324.4:c.216T>C p.Ala72= p.A72= ENST00000313324 NM_001037163.1 72 gcT/gcC 0 Silent A 7 C7ORF70 SNP 7 A G 6337095 6337095 Baylor CDH6 1004 hgsc.bcm.edu GRCh37 5 31323161 31323161 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265071.2:c.2119C>T p.Arg707Cys p.R707C ENST00000265071 NM_004932.3 707 Cgc/Tgc 0 Missense_Mutation C 31 CDH6 SNP 5 C T 31358918 31358918 Baylor CLDN18 51208 hgsc.bcm.edu GRCh37 3 137717810 137717810 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000343735.4:c.100G>A p.Asp34Asn p.D34N ENST00000343735 NM_001002026.2 34 Gac/Aac 0 Missense_Mutation G 33 CLDN18 SNP 3 G A 139200500 139200500 Baylor CPAMD8 27151 hgsc.bcm.edu GRCh37 19 17132868 17132868 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000443236.1:c.357G>A p.Pro119= p.P119= ENST00000443236 NM_015692.2 119 ccG/ccA 0 Silent C 23 CPAMD8 SNP 19 C T 16993868 16993868 Baylor CREBBP 1387 hgsc.bcm.edu GRCh37 16 3820801 3820801 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262367.5:c.2650G>A p.Ala884Thr p.A884T ENST00000262367 NM_004380.2 884 Gct/Act 0 Missense_Mutation C 28 CREBBP SNP 16 C T 3760802 3760802 Baylor DNAH5 1767 hgsc.bcm.edu GRCh37 5 13777370 13777373 + frameshift_variant Frame_Shift_Del DEL TGTC TGTC - novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 TGTC TGTC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265104.4:c.9043_9046del p.Asp3015MetfsTer12 p.D3015Mfs*12 ENST00000265104 NM_001369.2 3015 GACAat/at 0 Frame_Shift_Del TGTC 63 DNAH5 DEL 5 TGTC - 13830373 13830370 Baylor DNAH7 56171 hgsc.bcm.edu GRCh37 2 196877623 196877623 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000312428.6:c.877C>T p.Arg293Cys p.R293C ENST00000312428 NM_018897.2 293 Cgt/Tgt 0 Missense_Mutation G 40 DNAH7 SNP 2 G A 196585868 196585868 Baylor FANCA 2175 hgsc.bcm.edu GRCh37 16 89816305 89816306 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000389301.3:c.3071dup p.Met1024IlefsTer4 p.M1024Ifs*4 ENST00000389301 NM_000135.2 1024 atg/atTg 0 Frame_Shift_Ins - 21 FANCA INS 16 - A 88343807 88343806 Baylor FITM1 161247 hgsc.bcm.edu GRCh37 14 24600867 24600867 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000267426.5:c.96del p.Ser33LeufsTer57 p.S33Lfs*57 ENST00000267426 NM_203402.2 32 gCc/gc 0 Frame_Shift_Del C 26 FITM1 DEL 14 C - 23670707 23670707 Baylor GORASP1 64689 hgsc.bcm.edu GRCh37 3 39139971 39139971 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000319283.3:c.1079C>G p.Thr360Arg p.T360R ENST00000319283 NM_031899.3 360 aCa/aGa 0 Missense_Mutation G 48 GORASP1 SNP 3 G C 39114975 39114975 Baylor GRIN2B 2904 hgsc.bcm.edu GRCh37 12 13768146 13768146 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000609686.1:c.1556G>A p.Arg519Gln p.R519Q ENST00000609686 NM_000834.3 519 cGa/cAa 0 Missense_Mutation C 31 GRIN2B SNP 12 C T 13659413 13659413 Baylor HMCN1 83872 hgsc.bcm.edu GRCh37 1 185880900 185880900 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000271588.4:c.888G>A p.Met296Ile p.M296I ENST00000271588 NM_031935.2 296 atG/atA 0 Missense_Mutation G 48 HMCN1 SNP 1 G A 184147523 184147523 Baylor HTR2A 3356 hgsc.bcm.edu GRCh37 13 47466628 47466628 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378688.4:c.510G>A p.Ser170= p.S170= ENST00000378688 170 tcG/tcA 0 Silent C 27 HTR2A SNP 13 C T 46364629 46364629 Baylor HYDIN 54768 hgsc.bcm.edu GRCh37 16 70861276 70861276 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393567.2:c.14315C>T p.Pro4772Leu p.P4772L ENST00000393567 NM_001270974.1 4772 cCg/cTg 0 Missense_Mutation G 39 HYDIN SNP 16 G A 69418777 69418777 Baylor KCNIP3 30818 hgsc.bcm.edu GRCh37 2 96040068 96040068 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295225.5:c.206T>C p.Leu69Pro p.L69P ENST00000295225 NM_013434.4 69 cTg/cCg 0 Missense_Mutation T 55 KCNIP3 SNP 2 T C 95403795 95403795 Baylor LARP6 55323 hgsc.bcm.edu GRCh37 15 71125260 71125260 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000299213.8:c.607C>T p.Pro203Ser p.P203S ENST00000299213 NM_018357.2 203 Ccc/Tcc 0 Missense_Mutation G 43 LARP6 SNP 15 G A 68912314 68912314 Baylor MAN2A2 4122 hgsc.bcm.edu GRCh37 15 91453429 91453429 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360468.3:c.1484C>T p.Ser495Phe p.S495F ENST00000360468 NM_006122.2 495 tCc/tTc 0 Missense_Mutation C 30 MAN2A2 SNP 15 C T 89254433 89254433 Baylor MYH7B 57644 hgsc.bcm.edu GRCh37 20 33568865 33568865 + splice_donor_variant Splice_Site SNP T T G novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262873.7:c.653+2T>G p.X218_splice ENST00000262873 NM_020884.3 0 Splice_Site_SNP T 59 MYH7B SNP 20 T G 33032526 33032526 Baylor NLRC5 84166 hgsc.bcm.edu GRCh37 16 57116341 57116341 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262510.6:c.5505del p.Ile1836PhefsTer9 p.I1836Ffs*9 ENST00000262510 NM_032206.4 1834 aaC/aa 0 Frame_Shift_Del C 18 NLRC5 DEL 16 C - 55673842 55673842 Baylor PCSK6 5046 hgsc.bcm.edu GRCh37 15 101910553 101910553 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000348070.1:c.1705C>T p.Leu569Phe p.L569F ENST00000348070 NM_138320.1 569 Ctt/Ttt 0 Missense_Mutation G 36 PCSK6 SNP 15 G A 99728076 99728076 Baylor PINX1 54984 hgsc.bcm.edu GRCh37 8 10623415 10623415 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000314787.3:c.483T>G p.Ser161Arg p.S161R ENST00000314787 NM_017884.4 161 agT/agG 0 Missense_Mutation A 10 PINX1 SNP 8 A C 10660825 10660825 Baylor PLA2G4D 283748 hgsc.bcm.edu GRCh37 15 42377337 42377337 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000290472.3:c.429-1G>A p.X143_splice ENST00000290472 NM_178034.3 0 Splice_Site_SNP C 24 PLA2G4D SNP 15 C T 40164629 40164629 Baylor PPARD 5467 hgsc.bcm.edu GRCh37 6 35392166 35392166 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311565.4:c.688C>T p.Gln230Ter p.Q230* ENST00000311565 NM_001171818.1 230 Cag/Tag 0 Nonsense_Mutation C 25 PPARD SNP 6 C T 35500144 35500144 Baylor PRICKLE4 29964 hgsc.bcm.edu GRCh37 6 41754573 41754574 + inframe_insertion In_Frame_Ins INS - - CTT novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000458694.1:c.863_864insTCT p.Leu288dup p.L288dup ENST00000458694 NM_013397.5 287 -/CTT 0 In_Frame_Ins - 30 PRICKLE4 INS 6 - CTT 41862552 41862551 Baylor PTK6 5753 hgsc.bcm.edu GRCh37 20 62162163 62162163 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000217185.2:c.950A>G p.Asn317Ser p.N317S ENST00000217185 NM_005975.3 317 aAc/aGc 0 Missense_Mutation T 60 PTK6 SNP 20 T C 61632607 61632607 Baylor RB1 5925 hgsc.bcm.edu GRCh37 13 49030387 49030387 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000267163.4:c.1862G>C p.Arg621Pro p.R621P ENST00000267163 NM_000321.2 621 cGt/cCt 0 Missense_Mutation G 40 RB1 SNP 13 G C 47928388 47928388 Baylor RHOA 387 hgsc.bcm.edu GRCh37 3 49412973 49412973 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000418115.1:c.50G>T p.Gly17Val p.G17V ENST00000418115 NM_001664.2 17 gGa/gTa 0 Missense_Mutation C 30 RHOA SNP 3 C A 49387977 49387977 Baylor ARHGEF26 26084 hgsc.bcm.edu GRCh37 3 153943692 153943692 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356448.4:c.1983A>G p.Glu661= p.E661= ENST00000356448 NM_001251962.1 661 gaA/gaG 0 Silent A 4 SGEF SNP 3 A G 155426382 155426382 Baylor SLC39A12 221074 hgsc.bcm.edu GRCh37 10 18270411 18270411 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377369.2:c.1095G>C p.Glu365Asp p.E365D ENST00000377369 NM_001145195.1 365 gaG/gaC 0 Missense_Mutation G 33 SLC39A12 SNP 10 G C 18310417 18310417 Baylor U2SURP 23350 hgsc.bcm.edu GRCh37 3 142753779 142753779 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000473835.2:c.1903C>T p.Arg635Cys p.R635C ENST00000473835 NM_001080415.1 635 Cgt/Tgt 0 Missense_Mutation C 31 SR140 SNP 3 C T 144236469 144236469 Baylor SRR 63826 hgsc.bcm.edu GRCh37 17 2226491 2226491 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000344595.5:c.656A>T p.Gln219Leu p.Q219L ENST00000344595 NM_021947.1 219 cAg/cTg 0 Missense_Mutation A 7 SRR SNP 17 A T 2173241 2173241 Baylor STK10 6793 hgsc.bcm.edu GRCh37 5 171520740 171520740 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000176763.5:c.1230del p.Arg411GlyfsTer14 p.R411Gfs*14 ENST00000176763 NM_005990.3 410 ctG/ct 0 Frame_Shift_Del C 25 STK10 DEL 5 C - 171453345 171453345 Baylor SULF2 55959 hgsc.bcm.edu GRCh37 20 46365453 46365453 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000359930.4:c.409C>T p.Arg137Trp p.R137W ENST00000359930 NM_018837.3 137 Cgg/Tgg 0 Missense_Mutation G 39 SULF2 SNP 20 G A 45798860 45798860 Baylor TAPBPL 55080 hgsc.bcm.edu GRCh37 12 6567827 6567827 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000266556.7:c.921A>G p.Arg307= p.R307= ENST00000266556 NM_018009.4 307 cgA/cgG 0 Silent A 10 TAPBPL SNP 12 A G 6438088 6438088 Baylor TECPR2 9895 hgsc.bcm.edu GRCh37 14 102900803 102900803 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359520.7:c.1649del p.Leu550ArgfsTer96 p.L550Rfs*96 ENST00000359520 NM_014844.3 550 cTg/cg 0 Frame_Shift_Del T 55 TECPR2 DEL 14 T - 101970556 101970556 Baylor TET2 54790 hgsc.bcm.edu GRCh37 4 106155705 106155705 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380013.4:c.606C>T p.Asn202= p.N202= ENST00000380013 NM_001127208.2 202 aaC/aaT 0 Silent C 17 TET2 SNP 4 C T 106375154 106375154 Baylor TNNI3K 51086 hgsc.bcm.edu GRCh37 1 74929181 74929181 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 A A A T A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000370891.2:c.2371A>T p.Ile791Phe p.I791F ENST00000370891 NM_001112808.2 791 Att/Ttt 0 Missense_Mutation A 8 TNNI3K SNP 1 A T 74701769 74701769 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578394 7578394 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 T T C C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000269305.4:c.536A>G p.His179Arg p.H179R ENST00000269305 NM_001126112.2 179 cAt/cGt 0 Missense_Mutation T 51 TP53 SNP 17 C C 7519119 7519119 Baylor SUN2 25777 hgsc.bcm.edu GRCh37 22 39141694 39141694 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000405018.1:c.871T>G p.Phe291Val p.F291V ENST00000405018 NM_001199579.1 291 Ttc/Gtc 0 Missense_Mutation A 1 SUN2 SNP 22 A C 37471640 37471640 Baylor WDR47 22911 hgsc.bcm.edu GRCh37 1 109538235 109538235 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000400794.3:c.1682C>G p.Pro561Arg p.P561R ENST00000400794 561 cCt/cGt 0 Missense_Mutation G 35 WDR47 SNP 1 G C 109339758 109339758 Baylor WDR66 144406 hgsc.bcm.edu GRCh37 12 122404959 122404959 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000288912.4:c.2591T>C p.Phe864Ser p.F864S ENST00000288912 NM_144668.5 864 tTt/tCt 0 Missense_Mutation T 64 WDR66 SNP 12 T C 120889342 120889342 Baylor WDR74 54663 hgsc.bcm.edu GRCh37 11 62601957 62601957 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000525239.1:c.661C>G p.Leu221Val p.L221V ENST00000525239 221 Cta/Gta 0 Missense_Mutation G 35 WDR74 SNP 11 G C 62358533 62358533 Baylor ZFP64 55734 hgsc.bcm.edu GRCh37 20 50769312 50769312 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-04-1350-01 TCGA-04-1350-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000216923.4:c.1419del p.Leu475SerfsTer45 p.L475Sfs*45 ENST00000216923 NM_199426.1 473 acG/ac 0 Frame_Shift_Del C 27 ZFP64 DEL 20 C - 50202719 50202719 Baylor UBR4 23352 broad.mit.edu GRCh37 1 19420498 19420498 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000375254.3:c.13882G>T p.Val4628Leu p.V4628L ENST00000375254 NM_020765.2 4628 Gtg/Ttg 0 Missense_Mutation C 18 UBR4 SNP 1 C A 19293085 19293085 Broad SRRM1 10250 broad.mit.edu GRCh37 1 24989267 24989267 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000323848.9:c.1600C>T p.Arg534Ter p.R534* ENST00000323848 NM_005839.3 534 Cga/Tga 0 Nonsense_Mutation C 19 SRRM1 SNP 1 C T 24861854 24861854 Broad TMEM200B 399474 broad.mit.edu GRCh37 1 29447620 29447620 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000420504.2:c.721A>T p.Thr241Ser p.T241S ENST00000420504 NM_001171868.1 241 Act/Tct 0 Missense_Mutation T 58 TMEM200B SNP 1 T A 29320207 29320207 Broad THRAP3 9967 broad.mit.edu GRCh37 1 36758206 36758206 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000354618.5:c.1926C>A p.His642Gln p.H642Q ENST00000354618 NM_005119.3 642 caC/caA 0 Missense_Mutation C 20 THRAP3 SNP 1 C A 36530793 36530793 Broad MTF2 22823 broad.mit.edu GRCh37 1 93580643 93580643 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000370298.4:c.481A>C p.Lys161Gln p.K161Q ENST00000370298 NM_007358.3 161 Aag/Cag 0 Missense_Mutation A 1 MTF2 SNP 1 A C 93353231 93353231 Broad COL11A1 1301 broad.mit.edu GRCh37 1 103404627 103404627 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000370096.3:c.3402G>A p.Pro1134= p.P1134= ENST00000370096 NM_001854.3 1134 ccG/ccA 0 Silent C 23 COL11A1 SNP 1 C T 103177215 103177215 Broad CELSR2 1952 broad.mit.edu GRCh37 1 109794172 109794172 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000271332.3:c.1471G>C p.Val491Leu p.V491L ENST00000271332 NM_001408.2 491 Gtg/Ctg 0 Missense_Mutation G 44 CELSR2 SNP 1 G C 109595695 109595695 Broad INSRR 3645 broad.mit.edu GRCh37 1 156818728 156818728 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000368195.3:c.1556T>G p.Val519Gly p.V519G ENST00000368195 NM_014215.2 519 gTg/gGg 0 Missense_Mutation A 6 INSRR SNP 1 A C 155085352 155085352 Broad CACNA1E 777 broad.mit.edu GRCh37 1 181764036 181764036 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000367573.2:c.6064T>C p.Ser2022Pro p.S2022P ENST00000367573 NM_001205293.1 2022 Tcc/Ccc 0 Missense_Mutation T 62 CACNA1E SNP 1 T C 180030659 180030659 Broad RABIF 5877 broad.mit.edu GRCh37 1 202858175 202858175 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000367262.3:c.52C>A p.Arg18= p.R18= ENST00000367262 NM_002871.4 18 Cgg/Agg 0 Silent G 39 RABIF SNP 1 G T 201124798 201124798 Broad C1orf95 375057 broad.mit.edu GRCh37 1 226784601 226784601 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000366788.3:c.301C>G p.Leu101Val p.L101V ENST00000366788 NM_001003665.3 101 Ctc/Gtc 0 Missense_Mutation C 24 C1orf95 SNP 1 C G 224851224 224851224 Broad OR11L1 391189 broad.mit.edu GRCh37 1 248005089 248005089 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000355784.2:c.110T>A p.Leu37Gln p.L37Q ENST00000355784 NM_001001959.1 37 cTg/cAg 0 Missense_Mutation A 7 OR11L1 SNP 1 A T 246071712 246071712 Broad FAM21A 387680 broad.mit.edu GRCh37 10 51889204 51889204 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000282633.5:c.3113G>A p.Arg1038His p.R1038H ENST00000282633 NM_001005751.1 1038 cGt/cAt 0 Missense_Mutation G 40 FAM21B SNP 10 G A 51559210 51559210 Broad LCOR 84458 broad.mit.edu GRCh37 10 98715146 98715146 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000371097.4:c.769C>T p.Gln257Ter p.Q257* ENST00000371097 257 Caa/Taa 0 Nonsense_Mutation C 17 LCOR SNP 10 C T 98705136 98705136 Broad OR4C12 283093 broad.mit.edu GRCh37 11 50003470 50003470 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000335238.4:c.568A>C p.Thr190Pro p.T190P ENST00000335238 NM_001005270.2 190 Act/Cct 0 Missense_Mutation T 59 OR4C12 SNP 11 T G 49960046 49960046 Broad OR5M3 219482 broad.mit.edu GRCh37 11 56237479 56237479 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000312240.2:c.495C>T p.Tyr165= p.Y165= ENST00000312240 NM_001004742.2 165 taC/taT 0 Silent G 36 OR5M3 SNP 11 G A 55994055 55994055 Broad RIN1 9610 broad.mit.edu GRCh37 11 66100843 66100843 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000311320.4:c.1761C>G p.Ala587= p.A587= ENST00000311320 NM_004292.2 587 gcC/gcG 0 Silent G 43 RIN1 SNP 11 G C 65857419 65857419 Broad TCIRG1 10312 broad.mit.edu GRCh37 11 67812501 67812501 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000265686.3:c.1097G>T p.Arg366Leu p.R366L ENST00000265686 NM_006019.3 366 cGc/cTc 0 Missense_Mutation G 38 TCIRG1 SNP 11 G T 67569077 67569077 Broad MAML2 84441 broad.mit.edu GRCh37 11 95825192 95825192 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000524717.1:c.2003C>A p.Ser668Tyr p.S668Y ENST00000524717 NM_032427.1 668 tCt/tAt 0 Missense_Mutation G 33 MAML2 SNP 11 G T 95464840 95464840 Broad CASP5 838 broad.mit.edu GRCh37 11 104877810 104877810 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000393141.2:c.472C>T p.Pro158Ser p.P158S ENST00000393141 NM_004347.3 158 Cct/Tct 0 Missense_Mutation G 40 CASP5 SNP 11 G A 104383020 104383020 Broad DPAGT1 1798 broad.mit.edu GRCh37 11 118971415 118971415 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000409993.2:c.421T>C p.Phe141Leu p.F141L ENST00000409993 141 Ttc/Ctc 0 Missense_Mutation A 1 DPAGT1 SNP 11 A G 118476625 118476625 Broad CBL 867 broad.mit.edu GRCh37 11 119148471 119148471 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000264033.4:c.1012T>C p.Leu338= p.L338= ENST00000264033 NM_005188.3 338 Ttg/Ctg 0 Silent T 64 CBL SNP 11 T C 118653681 118653681 Broad EPS8 2059 broad.mit.edu GRCh37 12 15818705 15818705 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000281172.5:c.721G>C p.Ala241Pro p.A241P ENST00000281172 NM_004447.5 241 Gcc/Ccc 0 Missense_Mutation C 28 EPS8 SNP 12 C G 15709972 15709972 Broad KIF21A 55605 broad.mit.edu GRCh37 12 39734074 39734074 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000361418.5:c.2203C>T p.Leu735Phe p.L735F ENST00000361418 735 Ctt/Ttt 0 Missense_Mutation G 36 KIF21A SNP 12 G A 38020341 38020341 Broad AC005280.1 broad.mit.edu GRCh37 14 73958608 73958608 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000304061.5:n.963T>C *321* ENST00000304061 0 Missense_Mutation T 55 C14orf169 SNP 14 T C 73028361 73028361 Broad CCDC88C 440193 broad.mit.edu GRCh37 14 91776274 91776275 + missense_variant Missense_Mutation DNP CA CA TG novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000389857.6:c.2792_2793inv p.Leu931Pro p.L931P ENST00000389857 NM_001080414.3 931 cTG/cCA 0 Missense_Mutation CA 29 CCDC88C DNP 14 CA TG 90846028 90846027 Broad KIAA1024 23251 broad.mit.edu GRCh37 15 79749909 79749909 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000305428.3:c.1420G>A p.Val474Met p.V474M ENST00000305428 NM_015206.2 474 Gtg/Atg 0 Missense_Mutation G 40 KIAA1024 SNP 15 G A 77536964 77536964 Broad SRRM2 23524 broad.mit.edu GRCh37 16 2806458 2806458 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000301740.8:c.93T>G p.Gly31= p.G31= ENST00000301740 NM_016333.3 31 ggT/ggG 0 Silent T 59 SRRM2 SNP 16 T G 2746459 2746459 Broad DNAJA3 9093 broad.mit.edu GRCh37 16 4493163 4493163 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000262375.6:c.929C>T p.Ala310Val p.A310V ENST00000262375 NM_005147.5 310 gCa/gTa 0 Missense_Mutation C 25 DNAJA3 SNP 16 C T 4433164 4433164 Broad CLEC16A 23274 broad.mit.edu GRCh37 16 11272427 11272427 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000409790.1:c.3042C>A p.Asp1014Glu p.D1014E ENST00000409790 NM_015226.2 1014 gaC/gaA 0 Missense_Mutation C 18 CLEC16A SNP 16 C A 11179928 11179928 Broad FOXF1 2294 broad.mit.edu GRCh37 16 86546531 86546531 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000262426.4:c.980G>A p.Gly327Asp p.G327D ENST00000262426 NM_001451.2 327 gGc/gAc 0 Missense_Mutation G 42 FOXF1 SNP 16 G A 85104032 85104032 Broad FOXF1 2294 broad.mit.edu GRCh37 16 86546533 86546535 + missense_variant,splice_region_variant Missense_Mutation TNP ATC ATC TGT novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000262426.4:c.982_984delinsTGT p.Ile328Cys p.I328C ENST00000262426 NM_001451.2 328 ATC/TGT 0 Missense_Mutation ATC 8 FOXF1 TNP 16 ATC TGT 85104036 85104034 Broad ACLY 47 broad.mit.edu GRCh37 17 40070126 40070126 + start_lost Translation_Start_Site SNP T T A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000352035.2:c.1A>T p.Met1? p.M1? ENST00000352035 NM_001096.2 1 Atg/Ttg 0 Missense_Mutation T 51 ACLY SNP 17 T A 37323652 37323652 Broad STAT5A 6776 broad.mit.edu GRCh37 17 40460263 40460263 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000345506.4:c.1974C>G p.Asp658Glu p.D658E ENST00000345506 NM_003152.3 658 gaC/gaG 0 Missense_Mutation C 18 STAT5A SNP 17 C G 37713789 37713789 Broad PRR11 55771 broad.mit.edu GRCh37 17 57278973 57278973 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000262293.4:c.1064G>A p.Ser355Asn p.S355N ENST00000262293 NM_018304.3 355 aGc/aAc 0 Missense_Mutation G 34 PRR11 SNP 17 G A 54633755 54633755 Broad BRIP1 83990 broad.mit.edu GRCh37 17 59853910 59853910 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000259008.2:c.1949C>T p.Thr650Ile p.T650I ENST00000259008 NM_032043.2 650 aCc/aTc 0 Missense_Mutation G 44 BRIP1 SNP 17 G A 57208692 57208692 Broad ACE 1636 broad.mit.edu GRCh37 17 61560912 61560912 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000290866.4:c.1579T>A p.Tyr527Asn p.Y527N ENST00000290866 NM_000789.3 527 Tac/Aac 0 Missense_Mutation T 49 ACE SNP 17 T A 58914644 58914644 Broad MUC16 94025 broad.mit.edu GRCh37 19 9018494 9018494 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000397910.4:c.37680C>A p.Asp12560Glu p.D12560E ENST00000397910 NM_024690.2 12560 gaC/gaA 0 Missense_Mutation G 48 MUC16 SNP 19 G T 8879494 8879494 Broad C19orf57 79173 broad.mit.edu GRCh37 19 14000722 14000722 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000346736.2:c.947G>C p.Ser316Thr p.S316T ENST00000346736 NM_024323.3 316 aGc/aCc 0 Missense_Mutation C 28 C19orf57 SNP 19 C G 13861722 13861722 Broad ZNF91 7644 broad.mit.edu GRCh37 19 23545420 23545420 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000300619.7:c.361C>A p.Gln121Lys p.Q121K ENST00000300619 NM_003430.2 121 Cag/Aag 0 Missense_Mutation G 48 ZNF91 SNP 19 G T 23337260 23337260 Broad ZNF285 26974 broad.mit.edu GRCh37 19 44890755 44890755 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000330997.4:c.1652G>A p.Arg551His p.R551H ENST00000330997 NM_152354.3 551 cGt/cAt 0 Missense_Mutation C 19 ZNF285 SNP 19 C T 49582595 49582595 Broad MYBPC2 4606 broad.mit.edu GRCh37 19 50958433 50958433 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000357701.5:c.2083G>A p.Glu695Lys p.E695K ENST00000357701 NM_004533.3 695 Gag/Aag 0 Missense_Mutation G 33 MYBPC2 SNP 19 G A 55650245 55650245 Broad KCNH7 90134 broad.mit.edu GRCh37 2 163279946 163279946 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000332142.5:c.2054A>G p.Glu685Gly p.E685G ENST00000332142 NM_033272.3 685 gAg/gGg 0 Missense_Mutation T 54 KCNH7 SNP 2 T C 162988192 162988192 Broad GRB14 2888 broad.mit.edu GRCh37 2 165476321 165476321 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000263915.3:c.200A>T p.Lys67Met p.K67M ENST00000263915 NM_004490.2 67 aAg/aTg 0 Missense_Mutation T 56 GRB14 SNP 2 T A 165184567 165184567 Broad SCN1A 6323 broad.mit.edu GRCh37 2 166892744 166892744 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000303395.4:c.3243A>T p.Gly1081= p.G1081= ENST00000303395 1081 ggA/ggT 0 Silent T 62 SCN1A SNP 2 T A 166600990 166600990 Broad TTN 7273 broad.mit.edu GRCh37 2 179429213 179429213 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.81646C>T p.Arg27216Cys p.R27216C ENST00000589042 NM_001267550.1 27216 Cgc/Tgc 0 Missense_Mutation G 39 TTN SNP 2 G A 179137459 179137459 Broad SP140 11262 broad.mit.edu GRCh37 2 231149125 231149125 + splice_region_variant,synonymous_variant Splice_Region SNP T T C novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000392045.3:c.1563T>C p.Asn521= p.N521= ENST00000392045 NM_007237.4 521 aaT/aaC 0 Silent T 51 SP140 SNP 2 T C 230857369 230857369 Broad CSRP2BP 57325 broad.mit.edu GRCh37 20 18165251 18165251 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000435364.3:c.1990G>C p.Asp664His p.D664H ENST00000435364 NM_020536.4 664 Gac/Cac 0 Missense_Mutation G 45 CSRP2BP SNP 20 G C 18113251 18113251 Broad NCOA3 8202 broad.mit.edu GRCh37 20 46265173 46265173 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000371998.3:c.2043G>A p.Lys681= p.K681= ENST00000371998 681 aaG/aaA 0 Silent G 34 NCOA3 SNP 20 G A 45698580 45698580 Broad BCAS4 55653 broad.mit.edu GRCh37 20 49493134 49493134 + 3_prime_UTR_variant 3'UTR SNP C C T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000358791.5:c.*62C>T *21* ENST00000358791 NM_017843.3 0 Missense_Mutation C 31 BCAS4 SNP 20 C T 48926541 48926541 Broad FAM217B 63939 broad.mit.edu GRCh37 20 58519845 58519845 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000358293.3:c.847A>T p.Arg283Trp p.R283W ENST00000358293 NM_001190826.1 283 Agg/Tgg 0 Missense_Mutation A 11 C20orf177 SNP 20 A T 57953240 57953240 Broad USP25 29761 broad.mit.edu GRCh37 21 17250186 17250186 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000285679.6:c.2871C>T p.Ile957= p.I957= ENST00000285679 NM_013396.3 957 atC/atT 0 Silent C 29 USP25 SNP 21 C T 16172057 16172057 Broad KRTAP24-1 643803 broad.mit.edu GRCh37 21 31655055 31655055 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000340345.4:c.196G>A p.Gly66Ser p.G66S ENST00000340345 NM_001085455.1 66 Ggt/Agt 0 Missense_Mutation C 23 KRTAP24-1 SNP 21 C T 30576926 30576926 Broad WDR4 10785 broad.mit.edu GRCh37 21 44272425 44272425 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000398208.2:c.985G>T p.Glu329Ter p.E329* ENST00000398208 NM_001260476.1 329 Gag/Tag 0 Nonsense_Mutation C 29 WDR4 SNP 21 C A 43145494 43145494 Broad NF2 4771 broad.mit.edu GRCh37 22 30054240 30054240 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000338641.4:c.662A>G p.Tyr221Cys p.Y221C ENST00000338641 NM_000268.3 221 tAc/tGc 0 Missense_Mutation A 14 NF2 SNP 22 A G 28384240 28384240 Broad MYH9 4627 broad.mit.edu GRCh37 22 36716853 36716853 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000216181.5:c.858G>C p.Glu286Asp p.E286D ENST00000216181 NM_002473.4 286 gaG/gaC 0 Missense_Mutation C 28 MYH9 SNP 22 C G 35046799 35046799 Broad SUSD5 26032 broad.mit.edu GRCh37 3 33195086 33195086 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000309558.3:c.1038C>T p.Pro346= p.P346= ENST00000309558 NM_015551.1 346 ccC/ccT 0 Silent G 35 SUSD5 SNP 3 G A 33170090 33170090 Broad SPATA18 132671 broad.mit.edu GRCh37 4 52938302 52938302 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000295213.4:c.738G>A p.Glu246= p.E246= ENST00000295213 NM_145263.2 246 gaG/gaA 0 Silent G 33 SPATA18 SNP 4 G A 52633059 52633059 Broad PCDHGA1 56114 broad.mit.edu GRCh37 5 140711356 140711356 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000517417.1:c.1105A>C p.Ile369Leu p.I369L ENST00000517417 NM_018912.2 369 Atc/Ctc 0 Missense_Mutation A 16 PCDHGA1 SNP 5 A C 140691540 140691540 Broad PCDHGA7 56108 broad.mit.edu GRCh37 5 140764690 140764690 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000518325.1:c.2224G>T p.Gly742Cys p.G742C ENST00000518325 NM_018920.2 742 Ggc/Tgc 0 Missense_Mutation G 43 PCDHGA7 SNP 5 G T 140744874 140744874 Broad PCDHGB7 56099 broad.mit.edu GRCh37 5 140798637 140798637 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000398594.2:c.1211T>G p.Leu404Arg p.L404R ENST00000398594 NM_018927.3 404 cTa/cGa 0 Missense_Mutation T 53 PCDHGB7 SNP 5 T G 140778821 140778821 Broad SLC35B2 347734 broad.mit.edu GRCh37 6 44223050 44223050 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000393812.3:c.692C>G p.Ser231Cys p.S231C ENST00000393812 NM_178148.2 231 tCt/tGt 0 Missense_Mutation G 33 SLC35B2 SNP 6 G C 44331028 44331028 Broad LMBRD1 55788 broad.mit.edu GRCh37 6 70500195 70500195 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000370577.3:c.239C>T p.Thr80Ile p.T80I ENST00000370577 NM_018368.3 80 aCa/aTa 0 Missense_Mutation G 48 LMBRD1 SNP 6 G A 70556916 70556916 Broad EGFR 1956 broad.mit.edu GRCh37 7 55210083 55210083 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000275493.2:c.193T>C p.Leu65= p.L65= ENST00000275493 NM_005228.3 65 Ttg/Ctg 0 Silent T 64 EGFR SNP 7 T C 55177577 55177577 Broad DUSP26 78986 broad.mit.edu GRCh37 8 33449611 33449611 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000256261.4:c.556C>A p.Arg186= p.R186= ENST00000256261 NM_024025.1 186 Cga/Aga 0 Silent G 39 DUSP26 SNP 8 G T 33569153 33569153 Broad PXDNL 137902 broad.mit.edu GRCh37 8 52387592 52387592 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000356297.4:c.634T>C p.Tyr212His p.Y212H ENST00000356297 NM_144651.4 212 Tat/Cat 0 Missense_Mutation A 16 PXDNL SNP 8 A G 52550145 52550145 Broad EPPK1 83481 broad.mit.edu GRCh37 8 144942482 144942482 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000525985.1:c.4940G>C p.Arg1647Pro p.R1647P ENST00000525985 NM_031308.2 1647 cGc/cCc 0 Missense_Mutation C 27 EPPK1 SNP 8 C G 145014470 145014470 Broad KDM4C 23081 broad.mit.edu GRCh37 9 7049128 7049128 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000381309.3:c.2352A>T p.Glu784Asp p.E784D ENST00000381309 NM_015061.3 784 gaA/gaT 0 Missense_Mutation A 3 KDM4C SNP 9 A T 7039128 7039128 Broad FREM1 158326 broad.mit.edu GRCh37 9 14842569 14842569 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000422223.2:c.1483G>C p.Val495Leu p.V495L ENST00000422223 NM_144966.5 495 Gtg/Ctg 0 Missense_Mutation C 19 FREM1 SNP 9 C G 14832569 14832569 Broad PTCH1 5727 broad.mit.edu GRCh37 9 98209442 98209442 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000331920.6:c.4096C>A p.Gln1366Lys p.Q1366K ENST00000331920 NM_000264.3 1366 Cag/Aag 0 Missense_Mutation G 47 PTCH1 SNP 9 G T 97249263 97249263 Broad PPP1R26 9858 broad.mit.edu GRCh37 9 138376530 138376530 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000356818.2:c.174G>T p.Gly58= p.G58= ENST00000356818 NM_014811.3 58 ggG/ggT 0 Silent G 43 KIAA0649 SNP 9 G T 137516351 137516351 Broad SUPT20HL2 347438 broad.mit.edu GRCh37 X 24329671 24329671 + non_coding_transcript_exon_variant RNA SNP A A T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000536351.1:n.1762T>A *588* ENST00000536351 0 Missense_Mutation A 1 FAM48B2 SNP 23 A T 24239592 24239592 Broad ZXDB 158586 broad.mit.edu GRCh37 X 57619643 57619643 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000374888.1:c.1162G>A p.Glu388Lys p.E388K ENST00000374888 NM_007157.3 388 Gaa/Aaa 0 Missense_Mutation G 37 ZXDB SNP 23 G A 57636368 57636368 Broad BRWD3 254065 broad.mit.edu GRCh37 X 79945493 79945493 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000373275.4:c.3701T>G p.Val1234Gly p.V1234G ENST00000373275 NM_153252.4 1234 gTa/gGa 0 Missense_Mutation A 14 BRWD3 SNP 23 A C 79832149 79832149 Broad AFF2 2334 broad.mit.edu GRCh37 X 148037364 148037364 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown x x x ENST00000370460.2:c.1789C>T p.Arg597Cys p.R597C ENST00000370460 NM_002025.3 597 Cgt/Tgt 0 Missense_Mutation C 23 AFF2 SNP 23 C T 147845064 147845064 Broad KBTBD7 84078 broad.mit.edu GRCh37 13 41768107 41768111 + frameshift_variant Frame_Shift_Del DEL AAGTA AAGTA - novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000379483.3:c.283_287del p.Tyr95GlnfsTer42 p.Y95Qfs*42 ENST00000379483 NM_032138.4 95 TACTTc/c 0 Frame_Shift_Del AAGTA 9 KBTBD7 DEL 13 - AAGTA 40666111 40666107 Broad TP53 7157 broad.mit.edu GRCh37 17 7578475 7578475 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.455delC p.Pro152ArgfsTer18 p.P152Rfs*18 ENST00000269305 NM_001126112.2 152 cCg/cg 0 Frame_Shift_Del G 39 TP53 DEL 17 - G 7519200 7519200 Broad POTEE 445582 broad.mit.edu GRCh37 2 131976026 131976027 + frameshift_variant Frame_Shift_Del DEL AT AT - novel Unknown TCGA-24-2293-01 TCGA-24-2293-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000356920.5:c.51_52del p.Phe18TrpfsTer107 p.F18Wfs*107 ENST00000356920 NM_001083538.1 17 ccATtt/cctt 0 Frame_Shift_Del AT 8 POTEE DEL 2 - AT 131692497 131692496 Broad RPS6KA1 6195 broad.mit.edu GRCh37 1 26885427 26885427 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000531382.1:c.1241A>G p.Gln414Arg p.Q414R ENST00000531382 NM_001006665.1 414 cAg/cGg 0 Missense_Mutation A 7 RPS6KA1 SNP 1 A G 26758014 26758014 Broad RPS6KA1 6195 broad.mit.edu GRCh37 1 26898047 26898047 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000531382.1:c.1725T>G p.Ala575= p.A575= ENST00000531382 NM_001006665.1 575 gcT/gcG 0 Silent T 55 RPS6KA1 SNP 1 T G 26770634 26770634 Broad GJB4 127534 broad.mit.edu GRCh37 1 35227197 35227197 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000339480.1:c.342G>A p.Pro114= p.P114= ENST00000339480 NM_153212.2 114 ccG/ccA 0 Silent G 40 GJB4 SNP 1 G A 34999784 34999784 Broad ZFP69B 65243 broad.mit.edu GRCh37 1 40929247 40929247 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000411995.2:c.1591A>G p.Ser531Gly p.S531G ENST00000411995 NM_023070.2 531 Agc/Ggc 0 Missense_Mutation A 7 ZNF643 SNP 1 A G 40701834 40701834 Broad CYP4B1 1580 broad.mit.edu GRCh37 1 47279975 47279975 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000371923.4:c.870C>G p.Leu290= p.L290= ENST00000371923 NM_001099772.1 290 ctC/ctG 0 Silent C 30 CYP4B1 SNP 1 C G 47052562 47052562 Broad ADAMTSL4 54507 broad.mit.edu GRCh37 1 150531087 150531087 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000271643.4:c.2521T>A p.Cys841Ser p.C841S ENST00000271643 NM_019032.4 841 Tgt/Agt 0 Missense_Mutation T 55 ADAMTSL4 SNP 1 T A 148797711 148797711 Broad GNPAT 8443 broad.mit.edu GRCh37 1 231411174 231411174 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000366647.4:c.1867T>G p.Leu623Val p.L623V ENST00000366647 NM_014236.3 623 Tta/Gta 0 Missense_Mutation T 52 GNPAT SNP 1 T G 229477797 229477797 Broad CNNM2 54805 broad.mit.edu GRCh37 10 104679547 104679547 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000369878.4:c.1310G>A p.Gly437Glu p.G437E ENST00000369878 NM_017649.4 437 gGg/gAg 0 Missense_Mutation G 43 CNNM2 SNP 10 G A 104669537 104669537 Broad CCDC87 55231 broad.mit.edu GRCh37 11 66359793 66359793 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000333861.3:c.694C>T p.Gln232Ter p.Q232* ENST00000333861 NM_018219.2 232 Caa/Taa 0 Nonsense_Mutation G 47 CCDC87 SNP 11 G A 66116369 66116369 Broad USP15 9958 broad.mit.edu GRCh37 12 62708592 62708592 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000280377.5:c.370G>T p.Val124Leu p.V124L ENST00000280377 NM_001252078.1 124 Gta/Tta 0 Missense_Mutation G 48 USP15 SNP 12 G T 60994859 60994859 Broad TMEM132D 121256 broad.mit.edu GRCh37 12 129563124 129563124 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000422113.2:c.2070C>A p.Ile690= p.I690= ENST00000422113 NM_133448.2 690 atC/atA 0 Silent G 33 TMEM132D SNP 12 G T 128129077 128129077 Broad ARHGEF7 8874 broad.mit.edu GRCh37 13 111935537 111935537 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000375741.2:c.1840G>A p.Ala614Thr p.A614T ENST00000375741 NM_145735.2 614 Gcg/Acg 0 Missense_Mutation G 38 ARHGEF7 SNP 13 G A 110733538 110733538 Broad SEC23A 10484 broad.mit.edu GRCh37 14 39536469 39536469 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000307712.6:c.1135A>G p.Thr379Ala p.T379A ENST00000307712 NM_006364.2 379 Act/Gct 0 Missense_Mutation T 57 SEC23A SNP 14 T C 38606220 38606220 Broad ZC2HC1C 79696 broad.mit.edu GRCh37 14 75537379 75537379 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000524913.1:c.103T>A p.Tyr35Asn p.Y35N ENST00000524913 NM_024643.2 35 Tac/Aac 0 Missense_Mutation T 61 FAM164C SNP 14 T A 74607132 74607132 Broad CHRNA5 1138 broad.mit.edu GRCh37 15 78880661 78880661 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000299565.5:c.309G>C p.Trp103Cys p.W103C ENST00000299565 NM_000745.3 103 tgG/tgC 0 Missense_Mutation G 41 CHRNA5 SNP 15 G C 76667716 76667716 Broad TP53 7157 broad.mit.edu GRCh37 17 7578370 7578370 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.559+1G>A p.X187_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 18 TP53 SNP 17 C T 7519095 7519095 Broad CCDC40 55036 broad.mit.edu GRCh37 17 78063658 78063659 + missense_variant Missense_Mutation DNP TG TG AC novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000397545.4:c.2807_2808delinsAC p.Met936Asn p.M936N ENST00000397545 NM_017950.3 936 aTG/aAC 0 Missense_Mutation TG 51 CCDC40 DNP 17 TG AC 75678254 75678253 Broad MPND 84954 broad.mit.edu GRCh37 19 4355115 4355115 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000262966.8:c.941T>G p.Phe314Cys p.F314C ENST00000262966 NM_032868.4 314 tTc/tGc 0 Missense_Mutation T 62 MPND SNP 19 T G 4306115 4306115 Broad PTPRS 5802 broad.mit.edu GRCh37 19 5214445 5214445 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000357368.4:c.4541G>T p.Gly1514Val p.G1514V ENST00000357368 NM_002850.3 1514 gGc/gTc 0 Missense_Mutation C 26 PTPRS SNP 19 C A 5165445 5165445 Broad ANO8 57719 broad.mit.edu GRCh37 19 17435810 17435810 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000159087.4:c.3047G>T p.Gly1016Val p.G1016V ENST00000159087 NM_020959.2 1016 gGc/gTc 0 Missense_Mutation C 26 ANO8 SNP 19 C A 17296810 17296810 Broad ZNF208 7757 broad.mit.edu GRCh37 19 22156106 22156106 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000397126.4:c.1730T>G p.Val577Gly p.V577G ENST00000397126 NM_007153.3 577 gTa/gGa 0 Missense_Mutation A 14 ZNF208 SNP 19 A C 21947946 21947946 Broad ZNF529 57711 broad.mit.edu GRCh37 19 37038675 37038675 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000591340.1:c.785C>T p.Thr262Ile p.T262I ENST00000591340 NM_020951.4 262 aCc/aTc 0 Missense_Mutation G 44 ZNF529 SNP 19 G A 41730515 41730515 Broad PRKD2 25865 broad.mit.edu GRCh37 19 47207425 47207425 + splice_donor_variant Splice_Site SNP C C G novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000433867.1:c.889+1G>C p.X297_splice ENST00000433867 NM_001079881.1 0 Splice_Site_SNP C 18 PRKD2 SNP 19 C G 51899265 51899265 Broad PLEKHA4 57664 broad.mit.edu GRCh37 19 49344562 49344562 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000263265.6:c.1749G>A p.Pro583= p.P583= ENST00000263265 NM_020904.2 583 ccG/ccA 0 Silent C 23 PLEKHA4 SNP 19 C T 54036374 54036374 Broad CPT1C 126129 broad.mit.edu GRCh37 19 50214064 50214064 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000392518.4:c.1816A>G p.Thr606Ala p.T606A ENST00000392518 NM_001199752.1 606 Acg/Gcg 0 Missense_Mutation A 6 CPT1C SNP 19 A G 54905876 54905876 Broad BIRC6 57448 broad.mit.edu GRCh37 2 32770875 32770875 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000421745.2:c.12758C>T p.Ala4253Val p.A4253V ENST00000421745 NM_016252.3 4253 gCt/gTt 0 Missense_Mutation C 28 BIRC6 SNP 2 C T 32624379 32624379 Broad MRPS5 64969 broad.mit.edu GRCh37 2 95780880 95780880 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000272418.2:c.208C>T p.Gln70Ter p.Q70* ENST00000272418 NM_031902.3 70 Caa/Taa 0 Nonsense_Mutation G 48 MRPS5 SNP 2 G A 95144607 95144607 Broad TMEM131 23505 broad.mit.edu GRCh37 2 98428988 98428988 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000186436.5:c.1759G>T p.Asp587Tyr p.D587Y ENST00000186436 NM_015348.1 587 Gac/Tac 0 Missense_Mutation C 32 TMEM131 SNP 2 C A 97795420 97795420 Broad GLI2 2736 broad.mit.edu GRCh37 2 121708839 121708839 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000452319.1:c.275G>A p.Ser92Asn p.S92N ENST00000452319 92 aGc/aAc 0 Missense_Mutation G 34 GLI2 SNP 2 G A 121425309 121425309 Broad MOB4 25843 broad.mit.edu GRCh37 2 198380855 198380855 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000323303.4:c.45G>A p.Pro15= p.P15= ENST00000323303 NM_015387.4 15 ccG/ccA 0 Silent G 39 MOBKL3 SNP 2 G A 198089100 198089100 Broad BCS1L 617 broad.mit.edu GRCh37 2 219527935 219527935 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000431802.1:c.1086C>G p.Thr362= p.T362= ENST00000431802 362 acC/acG 0 Silent C 22 BCS1L SNP 2 C G 219236179 219236179 Broad FBXO36 130888 broad.mit.edu GRCh37 2 230875525 230875525 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000283946.3:c.492C>A p.Thr164= p.T164= ENST00000283946 NM_174899.4 164 acC/acA 0 Silent C 21 FBXO36 SNP 2 C A 230583769 230583769 Broad PLCB1 23236 broad.mit.edu GRCh37 20 8717739 8717739 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000338037.6:c.2108G>C p.Gly703Ala p.G703A ENST00000338037 NM_015192.3 703 gGt/gCt 0 Missense_Mutation G 44 PLCB1 SNP 20 G C 8665739 8665739 Broad PCNT 5116 broad.mit.edu GRCh37 21 47766096 47766096 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000359568.5:c.694G>T p.Asp232Tyr p.D232Y ENST00000359568 NM_006031.5 232 Gat/Tat 0 Missense_Mutation G 33 PCNT SNP 21 G T 46590524 46590524 Broad PCNT 5116 broad.mit.edu GRCh37 21 47766901 47766901 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000359568.5:c.965G>T p.Gly322Val p.G322V ENST00000359568 NM_006031.5 322 gGa/gTa 0 Missense_Mutation G 41 PCNT SNP 21 G T 46591329 46591329 Broad APOBEC3A 200315 broad.mit.edu GRCh37 22 39353718 39353718 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000402255.1:c.22G>A p.Gly8Arg p.G8R ENST00000402255 8 Ggg/Agg 0 Missense_Mutation G 39 APOBEC3A SNP 22 G A 37683664 37683664 Broad FAM208A 23272 broad.mit.edu GRCh37 3 56667289 56667289 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000493960.2:c.3530T>C p.Ile1177Thr p.I1177T ENST00000493960 NM_001112736.1 1177 aTt/aCt 0 Missense_Mutation A 4 C3orf63 SNP 3 A G 56642329 56642329 Broad ARHGEF3 50650 broad.mit.edu GRCh37 3 56771276 56771276 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000338458.4:c.1074C>G p.Asp358Glu p.D358E ENST00000338458 NM_001128615.1 358 gaC/gaG 0 Missense_Mutation G 36 ARHGEF3 SNP 3 G C 56746316 56746316 Broad PRICKLE2 166336 broad.mit.edu GRCh37 3 64085270 64085270 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000295902.6:c.1992C>A p.Pro664= p.P664= ENST00000295902 NM_198859.3 664 ccC/ccA 0 Silent G 47 PRICKLE2 SNP 3 G T 64060310 64060310 Broad CHST2 9435 broad.mit.edu GRCh37 3 142841152 142841152 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000309575.3:c.1494T>A p.Phe498Leu p.F498L ENST00000309575 NM_004267.4 498 ttT/ttA 0 Missense_Mutation T 64 CHST2 SNP 3 T A 144323842 144323842 Broad GMPS 8833 broad.mit.edu GRCh37 3 155633844 155633844 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000496455.2:c.1075C>G p.Pro359Ala p.P359A ENST00000496455 NM_003875.2 359 Cca/Gca 0 Missense_Mutation C 18 GMPS SNP 3 C G 157116538 157116538 Broad ENAM 10117 broad.mit.edu GRCh37 4 71508194 71508194 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000396073.3:c.1051A>G p.Arg351Gly p.R351G ENST00000396073 NM_031889.2 351 Aga/Gga 0 Missense_Mutation A 7 ENAM SNP 4 A G 71727058 71727058 Broad ZNF622 90441 broad.mit.edu GRCh37 5 16451862 16451862 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000308683.2:c.1338G>A p.Gln446= p.Q446= ENST00000308683 NM_033414.2 446 caG/caA 0 Silent C 20 ZNF622 SNP 5 C T 16504862 16504862 Broad TRIM23 373 broad.mit.edu GRCh37 5 64892337 64892337 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000231524.9:c.1331A>C p.Glu444Ala p.E444A ENST00000231524 NM_001656.3 444 gAa/gCa 0 Missense_Mutation T 62 TRIM23 SNP 5 T G 64928093 64928093 Broad SERINC5 256987 broad.mit.edu GRCh37 5 79446708 79446708 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000512721.1:c.1050G>T p.Leu350Phe p.L350F ENST00000512721 NM_001174072.1 350 ttG/ttT 0 Missense_Mutation C 21 SERINC5 SNP 5 C A 79482464 79482464 Broad RASGRF2 5924 broad.mit.edu GRCh37 5 80409390 80409390 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000265080.4:c.2121C>A p.Asn707Lys p.N707K ENST00000265080 NM_006909.2 707 aaC/aaA 0 Missense_Mutation C 17 RASGRF2 SNP 5 C A 80445146 80445146 Broad VCAN 1462 broad.mit.edu GRCh37 5 82837526 82837526 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000265077.3:c.8704G>C p.Glu2902Gln p.E2902Q ENST00000265077 NM_004385.4 2902 Gaa/Caa 0 Missense_Mutation G 33 VCAN SNP 5 G C 82873282 82873282 Broad RIOK1 83732 broad.mit.edu GRCh37 6 7395357 7395357 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000379834.2:c.348T>C p.Phe116= p.F116= ENST00000379834 NM_031480.2 116 ttT/ttC 0 Silent T 63 RIOK1 SNP 6 T C 7340356 7340356 Broad VEGFA 7422 broad.mit.edu GRCh37 6 43746215 43746215 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000523873.1:c.334C>T p.His112Tyr p.H112Y ENST00000523873 112 Cac/Tac 0 Missense_Mutation C 29 VEGFA SNP 6 C T 43854193 43854193 Broad TSPAN33 340348 broad.mit.edu GRCh37 7 128806678 128806678 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000289407.4:c.519C>G p.Cys173Trp p.C173W ENST00000289407 NM_178562.3 173 tgC/tgG 0 Missense_Mutation C 28 TSPAN33 SNP 7 C G 128593914 128593914 Broad AGK 55750 broad.mit.edu GRCh37 7 141315310 141315310 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000355413.4:c.463G>A p.Gly155Arg p.G155R ENST00000355413 NM_018238.3 155 Gga/Aga 0 Missense_Mutation G 43 AGK SNP 7 G A 140961779 140961779 Broad CYP7A1 1581 broad.mit.edu GRCh37 8 59404148 59404148 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000301645.3:c.1401G>C p.Leu467Phe p.L467F ENST00000301645 NM_000780.3 467 ttG/ttC 0 Missense_Mutation C 21 CYP7A1 SNP 8 C G 59566702 59566702 Broad HNF4G 3174 broad.mit.edu GRCh37 8 76476246 76476246 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000396423.2:c.1253G>A p.Gly418Asp p.G418D ENST00000396423 NM_004133.4 418 gGc/gAc 0 Missense_Mutation G 42 HNF4G SNP 8 G A 76638801 76638801 Broad NDRG1 10397 broad.mit.edu GRCh37 8 134260120 134260120 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000414097.2:c.805G>A p.Val269Met p.V269M ENST00000414097 NM_001135242.1 269 Gtg/Atg 0 Missense_Mutation C 19 NDRG1 SNP 8 C T 134329302 134329302 Broad DDX58 23586 broad.mit.edu GRCh37 9 32485257 32485257 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000379883.2:c.1396C>T p.Arg466Trp p.R466W ENST00000379883 NM_014314.3 466 Cgg/Tgg 0 Missense_Mutation G 40 DDX58 SNP 9 G A 32475257 32475257 Broad KIF24 347240 broad.mit.edu GRCh37 9 34257626 34257626 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000379166.2:c.1979A>G p.Lys660Arg p.K660R ENST00000379166 NM_194313.2 660 aAa/aGa 0 Missense_Mutation T 64 KIF24 SNP 9 T C 34247626 34247626 Broad ACE2 59272 broad.mit.edu GRCh37 X 15596408 15596408 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000427411.1:c.1101C>T p.Asp367= p.D367= ENST00000427411 NM_021804.2 367 gaC/gaT 0 Silent G 40 ACE2 SNP 23 G A 15506329 15506329 Broad MAGEB6 158809 broad.mit.edu GRCh37 X 26212380 26212380 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000379034.1:c.417C>A p.Ser139= p.S139= ENST00000379034 NM_173523.2 139 tcC/tcA 0 Silent C 22 MAGEB6 SNP 23 C A 26122301 26122301 Broad DMD 1756 broad.mit.edu GRCh37 X 31165530 31165530 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000357033.4:c.10659C>A p.Pro3553= p.P3553= ENST00000357033 NM_004007.2 3553 ccC/ccA 0 Silent G 43 DMD SNP 23 G T 31075451 31075451 Broad PSMD10 5716 broad.mit.edu GRCh37 X 107328302 107328302 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000217958.3:c.583G>A p.Gly195Arg p.G195R ENST00000217958 NM_170750.2 195 Gga/Aga 0 Missense_Mutation C 24 PSMD10 SNP 23 C T 107214958 107214958 Broad ZNF280C 55609 broad.mit.edu GRCh37 X 129377604 129377604 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000370978.4:c.314C>T p.Ser105Leu p.S105L ENST00000370978 NM_017666.4 105 tCg/tTg 0 Missense_Mutation G 37 ZNF280C SNP 23 G A 129205285 129205285 Broad FLNA 2316 broad.mit.edu GRCh37 X 153593316 153593317 + missense_variant Missense_Mutation DNP TT TT CC novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown x x x ENST00000369850.3:c.1700_1701delinsGG p.Glu567Gly p.E567G ENST00000369850 NM_001110556.1 567 gAA/gGG 0 Missense_Mutation TT 56 FLNA DNP 23 TT CC 153246511 153246510 Broad TRPV2 51393 broad.mit.edu GRCh37 17 16335366 16335367 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000338560.7:c.1742dup p.Glu582GlyfsTer74 p.E582Gfs*74 ENST00000338560 NM_016113.4 581 cag/cAag 0 Frame_Shift_Ins - 17 TRPV2 INS 17 A - 16276092 16276091 Broad OR4F21 441308 broad.mit.edu GRCh37 8 116893 116894 + frameshift_variant Frame_Shift_Del DEL GA GA - novel Unknown TCGA-24-2030-01 TCGA-24-2030-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000320901.3:c.131_132del p.Phe44TyrfsTer8 p.F44Yfs*8 ENST00000320901 NM_001005504.1 44 tTC/t 0 Frame_Shift_Del GA 45 OR4F21 DEL 8 - GA 106894 106893 Broad TP53 7157 genome.wustl.edu GRCh37 17 7577114 7577114 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.824G>A p.Cys275Tyr p.C275Y ENST00000269305 NM_001126112.2 275 tGt/tAt 0 Missense_Mutation C 17 TP53 SNP 17 C T 7517839 7517839 WashU PRSS55 203074 genome.wustl.edu GRCh37 8 10387120 10387120 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328655.3:c.258G>T p.Gln86His p.Q86H ENST00000328655 NM_198464.3 86 caG/caT 0 Missense_Mutation G 35 PRSS55 SNP 8 G T 10424530 10424530 WashU PTPRO 5800 genome.wustl.edu GRCh37 12 15654589 15654589 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000281171.4:c.697G>A p.Val233Ile p.V233I ENST00000281171 NM_030667.2 233 Gta/Ata 0 Missense_Mutation G 40 PTPRO SNP 12 G A 15545856 15545856 WashU PRDM9 56979 genome.wustl.edu GRCh37 5 23527156 23527156 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000296682.3:c.1959T>C p.Thr653= p.T653= ENST00000296682 NM_020227.2 653 acT/acC 0 Silent T 54 PRDM9 SNP 5 T C 23562913 23562913 WashU ARNTL2 56938 genome.wustl.edu GRCh37 12 27553514 27553514 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000266503.5:c.967T>C p.Trp323Arg p.W323R ENST00000266503 323 Tgg/Cgg 0 Missense_Mutation T 55 ARNTL2 SNP 12 T C 27444781 27444781 WashU LTBP1 4052 genome.wustl.edu GRCh37 2 33477825 33477825 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000404816.2:c.2081C>T p.Ser694Phe p.S694F ENST00000404816 694 tCt/tTt 0 Missense_Mutation C 32 LTBP1 SNP 2 C T 33331329 33331329 WashU ARMC12 221481 genome.wustl.edu GRCh37 6 35715084 35715084 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000288065.2:c.572C>T p.Thr191Met p.T191M ENST00000288065 NM_145028.3 191 aCg/aTg 0 Missense_Mutation C 19 C6orf81 SNP 6 C T 35823062 35823062 WashU ADAMTS20 80070 genome.wustl.edu GRCh37 12 43821202 43821202 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389420.3:c.4016C>G p.Ala1339Gly p.A1339G ENST00000389420 NM_025003.3 1339 gCt/gGt 0 Missense_Mutation G 34 ADAMTS20 SNP 12 G C 42107469 42107469 WashU ZBTB21 49854 genome.wustl.edu GRCh37 21 43411450 43411450 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310826.5:c.2755A>C p.Thr919Pro p.T919P ENST00000310826 NM_001098402.1 919 Acg/Ccg 0 Missense_Mutation T 59 ZNF295 SNP 21 T G 42284519 42284519 WashU B4GALT2 8704 genome.wustl.edu GRCh37 1 44450970 44450970 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000309519.7:c.848T>G p.Phe283Cys p.F283C ENST00000309519 283 tTt/tGt 0 Missense_Mutation T 64 B4GALT2 SNP 1 T G 44223557 44223557 WashU TOM1L1 10040 genome.wustl.edu GRCh37 17 52993155 52993155 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000575882.1:c.652G>A p.Val218Met p.V218M ENST00000575882 NM_005486.2 218 Gtg/Atg 0 Missense_Mutation G 36 TOM1L1 SNP 17 G A 50348154 50348154 WashU RPS26P54 genome.wustl.edu GRCh37 18 57428967 57428967 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000473094.1:n.178G>A *60* ENST00000473094 0 Missense_Mutation G 37 LOC100131971 SNP 18 G A 55579947 55579947 WashU LILRB4 11006 genome.wustl.edu GRCh37 19 55179359 55179359 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000391736.1:c.1236C>T p.Tyr412= p.Y412= ENST00000391736 NM_001278430.2 412 taC/taT 0 Silent C 19 LILRB4 SNP 19 C T 59871171 59871171 WashU ZNF711 7552 genome.wustl.edu GRCh37 X 84519372 84519372 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373165.3:c.714G>A p.Gly238= p.G238= ENST00000373165 NM_021998.4 238 ggG/ggA 0 Silent G 44 ZNF711 SNP 23 G A 84406028 84406028 WashU ATP2B1 490 genome.wustl.edu GRCh37 12 89995184 89995184 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000428670.3:c.3087A>G p.Lys1029= p.K1029= ENST00000428670 1029 aaA/aaG 0 Silent T 60 ATP2B1 SNP 12 T C 88519315 88519315 WashU GPR98 84059 genome.wustl.edu GRCh37 5 89925304 89925304 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405460.2:c.1787T>A p.Leu596Ter p.L596* ENST00000405460 NM_032119.3 596 tTa/tAa 0 Nonsense_Mutation T 61 GPR98 SNP 5 T A 89961060 89961060 WashU ADRA2B 151 genome.wustl.edu GRCh37 2 96781288 96781288 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409345.3:c.601C>T p.Arg201Cys p.R201C ENST00000409345 NM_000682.5 201 Cgc/Tgc 0 Missense_Mutation G 40 ADRA2B SNP 2 G A 96145015 96145015 WashU KLHL32 114792 genome.wustl.edu GRCh37 6 97533046 97533046 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369261.4:c.456N>T p.Asp152= p.D152= ENST00000369261 NM_052904.3 152 gaC/gaT 0 Silent C 18 KLHL32 SNP 6 C T 97639767 97639767 WashU ASCC3 10973 genome.wustl.edu GRCh37 6 101054904 101054904 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369162.2:c.4846A>G p.Ile1616Val p.I1616V ENST00000369162 NM_006828.2 1616 Ata/Gta 0 Missense_Mutation T 50 ASCC3 SNP 6 T C 101161625 101161625 WashU DMBT1 1755 genome.wustl.edu GRCh37 10 124390771 124390771 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368909.3:c.5933G>A p.Arg1978His p.R1978H ENST00000368909 NM_007329.2 1978 cGt/cAt 0 Missense_Mutation G 40 DMBT1 SNP 10 G A 124380761 124380761 WashU MED12L 116931 genome.wustl.edu GRCh37 3 151105723 151105723 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000474524.1:c.5109C>T p.Tyr1703= p.Y1703= ENST00000474524 NM_053002.4 1703 taC/taT 0 Silent C 19 MED12L SNP 3 C T 152588413 152588413 WashU PYHIN1 149628 genome.wustl.edu GRCh37 1 158914826 158914826 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368140.1:c.1353C>G p.Phe451Leu p.F451L ENST00000368140 NM_152501.4 451 ttC/ttG 0 Missense_Mutation C 29 PYHIN1 SNP 1 C G 157181450 157181450 WashU BCHE 590 genome.wustl.edu GRCh37 3 165547427 165547427 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264381.3:c.1395G>T p.Met465Ile p.M465I ENST00000264381 NM_000055.2 465 atG/atT 0 Missense_Mutation C 25 BCHE SNP 3 C A 167030121 167030121 WashU RARS 5917 genome.wustl.edu GRCh37 5 167929075 167929075 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000231572.3:c.1022G>C p.Arg341Thr p.R341T ENST00000231572 NM_002887.3 341 aGg/aCg 0 Missense_Mutation G 35 RARS SNP 5 G C 167861653 167861653 WashU NRROS 375387 genome.wustl.edu GRCh37 3 196387496 196387496 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328557.4:c.982G>A p.Ala328Thr p.A328T ENST00000328557 NM_198565.1 328 Gca/Aca 0 Missense_Mutation G 38 LRRC33 SNP 3 G A 197871893 197871893 WashU SFMBT2 57713 genome.wustl.edu GRCh37 10 7205761 7205761 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361972.4:c.2656G>T p.Val886Leu p.V886L ENST00000361972 NM_001018039.1 886 Gtg/Ttg 0 Missense_Mutation C 20 SFMBT2 SNP 10 C A 7245767 7245767 WashU ANKRD29 147463 genome.wustl.edu GRCh37 18 21214110 21214110 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000592179.1:c.334G>A p.Gly112Arg p.G112R ENST00000592179 NM_173505.2 112 Ggg/Agg 0 Missense_Mutation C 23 ANKRD29 SNP 18 C T 19468108 19468108 WashU HCRTR2 3062 genome.wustl.edu GRCh37 6 55120033 55120033 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0910-01 TCGA-13-0910-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370862.3:c.502C>T p.Arg168Trp p.R168W ENST00000370862 NM_001526.3 168 Cgg/Tgg 0 Missense_Mutation C 27 HCRTR2 SNP 6 C T 55227992 55227992 WashU ABCC5 10057 hgsc.bcm.edu GRCh37 3 183639099 183639099 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000334444.6:c.4303G>C p.Val1435Leu p.V1435L ENST00000334444 NM_005688.2 1435 Gtc/Ctc 0 Missense_Mutation C 17 ABCC5 SNP 3 C G 185121793 185121793 Baylor ACBD4 79777 hgsc.bcm.edu GRCh37 17 43213896 43213897 + frameshift_variant Frame_Shift_Del DEL CT CT - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 CT CT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000431281.1:c.118_119del p.Leu40AlafsTer29 p.L40Afs*29 ENST00000431281 NM_001135704.1 40 CTg/g 0 Frame_Shift_Del CT 28 ACBD4 DEL 17 CT - 40569423 40569422 Baylor ADAMTS12 81792 hgsc.bcm.edu GRCh37 5 33881281 33881281 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000504830.1:c.432G>A p.Thr144= p.T144= ENST00000504830 NM_030955.2 144 acG/acA 0 Silent C 23 ADAMTS12 SNP 5 C T 33917038 33917038 Baylor AGAP3 116988 hgsc.bcm.edu GRCh37 7 150837160 150837160 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397238.2:c.1761del p.Ser587ArgfsTer104 p.S587Rfs*104 ENST00000397238 NM_031946.5 587 agC/ag 0 Frame_Shift_Del C 25 AGAP3 DEL 7 C - 150468093 150468093 Baylor AKR1B1 231 hgsc.bcm.edu GRCh37 7 134133850 134133850 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000285930.4:c.451G>A p.Glu151Lys p.E151K ENST00000285930 NM_001628.2 151 Gaa/Aaa 0 Missense_Mutation C 29 AKR1B1 SNP 7 C T 133784390 133784390 Baylor ANKRD23 200539 hgsc.bcm.edu GRCh37 2 97508245 97508245 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000318357.4:c.31A>G p.Ser11Gly p.S11G ENST00000318357 NM_144994.7 11 Agt/Ggt 0 Missense_Mutation T 56 ANKRD23 SNP 2 T C 96871972 96871972 Baylor AOC2 314 hgsc.bcm.edu GRCh37 17 40997343 40997345 + inframe_deletion In_Frame_Del DEL CTT CTT - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 CTT CTT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000253799.3:c.701_703del p.Leu234del p.L234del ENST00000253799 NM_009590.2 234 CTT/- 0 In_Frame_Del CTT 24 AOC2 DEL 17 CTT - 38250871 38250869 Baylor ARAP1 116985 hgsc.bcm.edu GRCh37 11 72406812 72406812 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393609.3:c.3371del p.Ala1124ValfsTer34 p.A1124Vfs*34 ENST00000393609 NM_001040118.2 1124 gCt/gt 0 Frame_Shift_Del G 34 ARAP1 DEL 11 G - 72084460 72084460 Baylor ARHGAP6 395 hgsc.bcm.edu GRCh37 X 11187696 11187696 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000337414.4:c.1738C>T p.Arg580Trp p.R580W ENST00000337414 NM_013427.2 580 Cgg/Tgg 0 Missense_Mutation G 39 ARHGAP6 SNP 23 G A 11097617 11097617 Baylor ASB11 140456 hgsc.bcm.edu GRCh37 X 15306059 15306059 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000480796.1:c.791C>A p.Ala264Glu p.A264E ENST00000480796 264 gCg/gAg 0 Missense_Mutation G 38 ASB11 SNP 23 G T 15215980 15215980 Baylor ATP11A 23250 hgsc.bcm.edu GRCh37 13 113487302 113487302 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000487903.1:c.1524G>A p.Ser508= p.S508= ENST00000487903 508 tcG/tcA 0 Silent G 38 ATP11A SNP 13 G A 112535303 112535303 Baylor ATP6V0D1 9114 hgsc.bcm.edu GRCh37 16 67472908 67472908 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000290949.3:c.782A>G p.Tyr261Cys p.Y261C ENST00000290949 NM_004691.4 261 tAt/tGt 0 Missense_Mutation T 49 ATP6V0D1 SNP 16 T C 66030409 66030409 Baylor B3GAT1 27087 hgsc.bcm.edu GRCh37 11 134252642 134252642 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000524765.1:c.880C>T p.Leu294Phe p.L294F ENST00000524765 294 Ctc/Ttc 0 Missense_Mutation G 35 B3GAT1 SNP 11 G A 133757852 133757852 Baylor BAI2 576 hgsc.bcm.edu GRCh37 1 32202314 32202314 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373658.3:c.2990C>A p.Thr997Asn p.T997N ENST00000373658 NM_001703.2 997 aCc/aAc 0 Missense_Mutation G 44 BAI2 SNP 1 G T 31974901 31974901 Baylor BNIP3 664 hgsc.bcm.edu GRCh37 10 133787389 133787389 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368636.4:c.105G>A p.Ser35= p.S35= ENST00000368636 NM_004052.2 35 tcG/tcA 0 Silent C 23 BNIP3 SNP 10 C T 133637379 133637379 Baylor ENO4 387712 hgsc.bcm.edu GRCh37 10 118616017 118616017 + intron_variant Intron SNP G G T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000409522.1:c.165+6775G>T *55* ENST00000409522 0 Silent G 47 ENO4 SNP 10 G T 118606007 118606007 Baylor HECTD4 283450 hgsc.bcm.edu GRCh37 12 112646341 112646341 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000550722.1:c.7523C>T p.Ala2508Val p.A2508V ENST00000550722 NM_001109662.3 2508 gCa/gTa 0 Missense_Mutation G 46 C12orf51 SNP 12 G A 111130724 111130724 Baylor C1QL4 338761 hgsc.bcm.edu GRCh37 12 49726968 49726969 + frameshift_variant Frame_Shift_Ins INS - - TT novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000334221.3:c.585_586insAA p.Ala196LysfsTer101 p.A196Kfs*101 ENST00000334221 NM_001008223.1 195 -/AA 0 Frame_Shift_Ins - 27 C1QL4 INS 12 - TT 48013236 48013235 Baylor BPIFB4 149954 hgsc.bcm.edu GRCh37 20 31671213 31671214 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375483.3:c.218dupC p.Val74SerfsTer9 p.V74Sfs*9 ENST00000375483 NM_182519.2 70 -/C 0 Frame_Shift_Ins - 10 C20orf186 INS 20 - C 31134875 31134874 Baylor C2CD2 25966 hgsc.bcm.edu GRCh37 21 43327232 43327232 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380486.3:c.1187del p.Pro396LeufsTer9 p.P396Lfs*9 ENST00000380486 NM_015500.1 396 cCt/ct 0 Frame_Shift_Del G 35 C2CD2 DEL 21 G - 42200301 42200301 Baylor C9orf171 389799 hgsc.bcm.edu GRCh37 9 135413034 135413034 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000343036.2:c.679del p.Leu227CysfsTer34 p.L227Cfs*34 ENST00000343036 NM_207417.1 227 Ctg/tg 0 Frame_Shift_Del C 28 C9orf171 DEL 9 C - 134402855 134402855 Baylor CACNA2D2 9254 hgsc.bcm.edu GRCh37 3 50416992 50416992 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000479441.1:c.1023del p.Phe342SerfsTer54 p.F342Sfs*54 ENST00000479441 341 tgC/tg 0 Frame_Shift_Del G 34 CACNA2D2 DEL 3 G - 50391996 50391996 Baylor CAPG 822 hgsc.bcm.edu GRCh37 2 85628985 85628985 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263867.4:c.119G>T p.Gly40Val p.G40V ENST00000263867 NM_001256140.1 40 gGc/gTc 0 Missense_Mutation C 26 CAPG SNP 2 C A 85482496 85482496 Baylor CCDC142 84865 hgsc.bcm.edu GRCh37 2 74708469 74708469 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000290418.4:c.1139G>A p.Gly380Glu p.G380E ENST00000290418 380 gGg/gAg 0 Missense_Mutation C 22 CCDC142 SNP 2 C T 74561977 74561977 Baylor CCNJL 79616 hgsc.bcm.edu GRCh37 5 159682681 159682681 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393977.3:c.762C>T p.Val254= p.V254= ENST00000393977 NM_024565.5 254 gtC/gtT 0 Silent G 37 CCNJL SNP 5 G A 159615259 159615259 Baylor CEACAM6 4680 hgsc.bcm.edu GRCh37 19 42260659 42260659 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000199764.6:c.216A>G p.Arg72= p.R72= ENST00000199764 NM_002483.4 72 agA/agG 0 Silent A 11 CEACAM6 SNP 19 A G 46952499 46952499 Baylor CKAP4 10970 hgsc.bcm.edu GRCh37 12 106633844 106633844 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378026.4:c.767C>G p.Thr256Arg p.T256R ENST00000378026 NM_006825.3 256 aCa/aGa 0 Missense_Mutation G 48 CKAP4 SNP 12 G C 105157974 105157974 Baylor CLCN4 1183 hgsc.bcm.edu GRCh37 X 10153170 10153170 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380833.4:c.98T>A p.Ile33Asn p.I33N ENST00000380833 NM_001830.3 33 aTc/aAc 0 Missense_Mutation T 50 CLCN4 SNP 23 T A 10113170 10113170 Baylor CPAMD8 27151 hgsc.bcm.edu GRCh37 19 17039883 17039884 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000443236.1:c.3153dupG p.His1052AlafsTer30 p.H1052Afs*30 ENST00000443236 NM_015692.2 1051 -/G 0 Frame_Shift_Ins - 46 CPAMD8 INS 19 - C 16900884 16900883 Baylor CSTB 1476 hgsc.bcm.edu GRCh37 21 45194592 45194592 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000291568.5:c.115A>G p.Lys39Glu p.K39E ENST00000291568 NM_000100.3 39 Aag/Gag 0 Missense_Mutation T 61 CSTB SNP 21 T C 44019020 44019020 Baylor DAG1 1605 hgsc.bcm.edu GRCh37 3 49569502 49569502 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000545947.1:c.1558T>C p.Ser520Pro p.S520P ENST00000545947 NM_001177634.2 520 Tca/Cca 0 Missense_Mutation T 58 DAG1 SNP 3 T C 49544506 49544506 Baylor DGCR2 9993 hgsc.bcm.edu GRCh37 22 19076948 19076948 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263196.7:c.135C>T p.Ile45= p.I45= ENST00000263196 NM_001184781.1 45 atC/atT 0 Silent G 41 DGCR2 SNP 22 G A 17456948 17456948 Baylor DLGAP3 58512 hgsc.bcm.edu GRCh37 1 35370273 35370273 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373347.1:c.712C>T p.His238Tyr p.H238Y ENST00000373347 238 Cac/Tac 0 Missense_Mutation G 46 DLGAP3 SNP 1 G A 35142860 35142860 Baylor DNAI2 64446 hgsc.bcm.edu GRCh37 17 72278098 72278098 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000446837.2:c.142G>C p.Asp48His p.D48H ENST00000446837 48 Gac/Cac 0 Missense_Mutation G 41 DNAI2 SNP 17 G C 69789693 69789693 Baylor DNAJC11 55735 hgsc.bcm.edu GRCh37 1 6698382 6698386 + frameshift_variant Frame_Shift_Del DEL CAGCA CAGCA - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 CAGCA CAGCA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377577.5:c.1292_1296del p.Val431AlafsTer22 p.V431Afs*22 ENST00000377577 NM_018198.3 431 gTGCTG/g 0 Frame_Shift_Del CAGCA 25 DNAJC11 DEL 1 CAGCA - 6620973 6620969 Baylor EFEMP1 2202 hgsc.bcm.edu GRCh37 2 56108754 56108754 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000394555.2:c.633G>T p.Gln211His p.Q211H ENST00000394555 NM_001039348.2 211 caG/caT 0 Missense_Mutation C 20 EFEMP1 SNP 2 C A 55962258 55962258 Baylor EGFR 1956 hgsc.bcm.edu GRCh37 7 55224456 55224456 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000275493.2:c.1138del p.Ser380ProfsTer16 p.S380Pfs*16 ENST00000275493 NM_005228.3 380 Tcc/cc 0 Frame_Shift_Del T 54 EGFR DEL 7 T - 55191950 55191950 Baylor EPHA7 2045 hgsc.bcm.edu GRCh37 6 93967899 93967899 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369303.4:c.2028G>T p.Arg676Ser p.R676S ENST00000369303 NM_004440.3 676 agG/agT 0 Missense_Mutation C 30 EPHA7 SNP 6 C A 94024620 94024620 Baylor ERCC2 2068 hgsc.bcm.edu GRCh37 19 45858958 45858958 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000391945.4:c.1508C>G p.Ala503Gly p.A503G ENST00000391945 NM_000400.3 503 gCc/gGc 0 Missense_Mutation G 42 ERCC2 SNP 19 G C 50550798 50550798 Baylor ERICH1 157697 hgsc.bcm.edu GRCh37 8 642491 642491 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262109.7:c.291G>A p.Gly97= p.G97= ENST00000262109 NM_207332.1 97 ggG/ggA 0 Silent C 22 ERICH1 SNP 8 C T 632491 632491 Baylor EVC2 132884 hgsc.bcm.edu GRCh37 4 5624409 5624409 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000344408.5:c.2356G>T p.Ala786Ser p.A786S ENST00000344408 NM_147127.4 786 Gca/Tca 0 Missense_Mutation C 25 EVC2 SNP 4 C A 5675310 5675310 Baylor EVC2 132884 hgsc.bcm.edu GRCh37 4 5624411 5624411 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000344408.5:c.2354C>T p.Ala785Val p.A785V ENST00000344408 NM_147127.4 785 gCt/gTt 0 Missense_Mutation G 34 EVC2 SNP 4 G A 5675312 5675312 Baylor F11R 50848 hgsc.bcm.edu GRCh37 1 160970451 160970451 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368026.6:c.358G>T p.Gly120Trp p.G120W ENST00000368026 NM_016946.4 120 Ggg/Tgg 0 Missense_Mutation C 21 F11R SNP 1 C A 159237075 159237075 Baylor FAM65A 79567 hgsc.bcm.edu GRCh37 16 67572948 67572948 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000422602.2:c.373G>A p.Glu125Lys p.E125K ENST00000422602 NM_001193523.1 125 Gag/Aag 0 Missense_Mutation G 41 FAM65A SNP 16 G A 66130449 66130449 Baylor FBF1 85302 hgsc.bcm.edu GRCh37 17 73922959 73922959 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000319129.5:c.434-1G>C p.X145_splice ENST00000319129 NM_001080542.1 0 Splice_Site_SNP C 32 FBF1 SNP 17 C G 71434554 71434554 Baylor FBXO6 26270 hgsc.bcm.edu GRCh37 1 11733372 11733372 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000376753.4:c.548T>A p.Leu183His p.L183H ENST00000376753 NM_018438.5 183 cTc/cAc 0 Missense_Mutation T 54 FBXO6 SNP 1 T A 11655959 11655959 Baylor ARHGEF38 54848 hgsc.bcm.edu GRCh37 4 106510409 106510409 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000420470.2:c.201G>C p.Lys67Asn p.K67N ENST00000420470 NM_001242729.1 67 aaG/aaC 0 Missense_Mutation G 33 ARHGEF38 SNP 4 G C 106729858 106729858 Baylor FLRT2 23768 hgsc.bcm.edu GRCh37 14 86088647 86088647 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000330753.4:c.789G>A p.Gln263= p.Q263= ENST00000330753 NM_013231.4 263 caG/caA 0 Silent G 33 FLRT2 SNP 14 G A 85158400 85158400 Baylor FRMD4A 55691 hgsc.bcm.edu GRCh37 10 13701407 13701408 + frameshift_variant Frame_Shift_Del DEL CC CC - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 CC CC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357447.2:c.1981_1982del p.Gly661ProfsTer45 p.G661Pfs*45 ENST00000357447 NM_018027.3 661 GGc/c 0 Frame_Shift_Del CC 26 FRMD4A DEL 10 CC - 13741414 13741413 Baylor FXYD3 5349 hgsc.bcm.edu GRCh37 19 35611997 35611997 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000604255.1:c.227A>G p.Asp76Gly p.D76G ENST00000604255 NM_001136007.1 76 gAc/gGc 0 Missense_Mutation A 10 FXYD3 SNP 19 A G 40303837 40303837 Baylor GNL3 26354 hgsc.bcm.edu GRCh37 3 52720784 52720784 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000418458.1:c.14-1G>C p.X5_splice ENST00000418458 NM_014366.4 0 Splice_Site_SNP G 33 GNL3 SNP 3 G C 52695824 52695824 Baylor GPATCH8 23131 hgsc.bcm.edu GRCh37 17 42478484 42478484 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000591680.1:c.961G>A p.Asp321Asn p.D321N ENST00000591680 NM_001002909.2 321 Gac/Aac 0 Missense_Mutation C 30 GPATCH8 SNP 17 C T 39834010 39834010 Baylor GPC6 10082 hgsc.bcm.edu GRCh37 13 93879740 93879740 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377047.4:c.31C>T p.Pro11Ser p.P11S ENST00000377047 NM_005708.3 11 Ccc/Tcc 0 Missense_Mutation C 30 GPC6 SNP 13 C T 92677741 92677741 Baylor GSG2 83903 hgsc.bcm.edu GRCh37 17 3628064 3628065 + frameshift_variant Frame_Shift_Ins INS - - TG novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000325418.4:c.835_836insTG p.Asn279MetfsTer51 p.N279Mfs*51 ENST00000325418 NM_031965.2 279 aat/aTGat 0 Frame_Shift_Ins - 1 GSG2 INS 17 - TG 3574814 3574813 Baylor HDAC6 10013 hgsc.bcm.edu GRCh37 X 48673440 48673440 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000334136.5:c.1131G>A p.Lys377= p.K377= ENST00000334136 377 aaG/aaA 0 Silent G 34 HDAC6 SNP 23 G A 48558384 48558384 Baylor HDLBP 3069 hgsc.bcm.edu GRCh37 2 242187686 242187686 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000391975.1:c.1590C>A p.Ile530= p.I530= ENST00000391975 NM_203346.3 530 atC/atA 0 Silent G 41 HDLBP SNP 2 G T 241836359 241836359 Baylor HSPA12B 116835 hgsc.bcm.edu GRCh37 20 3721464 3721464 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000254963.2:c.46T>A p.Ser16Thr p.S16T ENST00000254963 NM_052970.4 16 Tcc/Acc 0 Missense_Mutation T 54 HSPA12B SNP 20 T A 3669464 3669464 Baylor HSPG2 3339 hgsc.bcm.edu GRCh37 1 22163405 22163405 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374695.3:c.10245C>T p.Ala3415= p.A3415= ENST00000374695 NM_005529.5 3415 gcC/gcT 0 Silent G 47 HSPG2 SNP 1 G A 22035992 22035992 Baylor IFRD2 7866 hgsc.bcm.edu GRCh37 3 50327841 50327841 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000429673.2:c.433G>C p.Val145Leu p.V145L ENST00000429673 145 Gtg/Ctg 0 Missense_Mutation C 17 IFRD2 SNP 3 C G 50302845 50302845 Baylor IGHMBP2 3508 hgsc.bcm.edu GRCh37 11 68676092 68676092 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000255078.3:c.540T>C p.Ser180= p.S180= ENST00000255078 NM_002180.2 180 agT/agC 0 Silent T 59 IGHMBP2 SNP 11 T C 68432668 68432668 Baylor ITIH4 3700 hgsc.bcm.edu GRCh37 3 52853439 52853439 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000266041.4:c.2047G>A p.Ala683Thr p.A683T ENST00000266041 NM_002218.4 683 Gct/Act 0 Missense_Mutation C 25 ITIH4 SNP 3 C T 52828479 52828479 Baylor JAKMIP3 282973 hgsc.bcm.edu GRCh37 10 133949538 133949539 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000298622.4:c.1074_1075insT p.Glu359Ter p.E359* ENST00000298622 NM_001105521.2 358 -/T 0 Frame_Shift_Ins - 47 JAKMIP3 INS 10 - T 133799529 133799528 Baylor KIAA0226 9711 hgsc.bcm.edu GRCh37 3 197408771 197408771 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000296343.5:c.2127-1G>A p.X709_splice ENST00000296343 NM_014687.1 0 Splice_Site_SNP C 24 KIAA0226 SNP 3 C T 198893168 198893168 Baylor KRT26 353288 hgsc.bcm.edu GRCh37 17 38926607 38926607 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000335552.4:c.579T>C p.Leu193= p.L193= ENST00000335552 NM_181539.4 193 ctT/ctC 0 Silent A 9 KRT26 SNP 17 A G 36180133 36180133 Baylor LARP4 113251 hgsc.bcm.edu GRCh37 12 50869496 50869496 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000398473.2:c.2024A>G p.Asp675Gly p.D675G ENST00000398473 NM_199188.2 675 gAt/gGt 0 Missense_Mutation A 12 LARP4 SNP 12 A G 49155763 49155763 Baylor LILRB3 11025 hgsc.bcm.edu GRCh37 19 54723012 54723015 + frameshift_variant Frame_Shift_Del DEL TTGC TTGC - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 TTGC TTGC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000245620.9:c.1409_1412del p.Ser470AsnfsTer29 p.S470Nfs*29 ENST00000245620 470 aGCAAa/aa 0 Frame_Shift_Del TTGC 64 LILRB3 DEL 19 TTGC - 59414827 59414824 Baylor LRP1 4035 hgsc.bcm.edu GRCh37 12 57578193 57578193 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000243077.3:c.6144C>G p.Asn2048Lys p.N2048K ENST00000243077 NM_002332.2 2048 aaC/aaG 0 Missense_Mutation C 19 LRP1 SNP 12 C G 55864460 55864460 Baylor LST1 7940 hgsc.bcm.edu GRCh37 6 31555095 31555095 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000376093.2:c.19G>C p.Asp7His p.D7H ENST00000376093 NM_007161.3 7 Gat/Cat 0 Missense_Mutation G 47 LST1 SNP 6 G C 31663074 31663074 Baylor MAGEB17 645864 hgsc.bcm.edu GRCh37 X 16189394 16189394 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000400004.2:c.889G>A p.Val297Ile p.V297I ENST00000400004 NM_001277307.1 297 Gtt/Att 0 Missense_Mutation G 40 MAGEB17 SNP 23 G A 16099315 16099315 Baylor MAGI2 9863 hgsc.bcm.edu GRCh37 7 77764399 77764399 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354212.4:c.2970C>G p.Asp990Glu p.D990E ENST00000354212 NM_012301.3 990 gaC/gaG 0 Missense_Mutation G 48 MAGI2 SNP 7 G C 77602335 77602335 Baylor MAP1A 4130 hgsc.bcm.edu GRCh37 15 43821647 43821647 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000300231.5:c.7976A>C p.Glu2659Ala p.E2659A ENST00000300231 2659 gAa/gCa 0 Missense_Mutation A 9 MAP1A SNP 15 A C 41608939 41608939 Baylor MAST1 22983 hgsc.bcm.edu GRCh37 19 12962779 12962779 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000251472.4:c.806C>A p.Ala269Asp p.A269D ENST00000251472 NM_014975.2 269 gCc/gAc 0 Missense_Mutation C 26 MAST1 SNP 19 C A 12823779 12823779 Baylor MED4 29079 hgsc.bcm.edu GRCh37 13 48664501 48664501 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000258648.2:c.179G>C p.Gly60Ala p.G60A ENST00000258648 NM_014166.3 60 gGa/gCa 0 Missense_Mutation C 30 MED4 SNP 13 C G 47562502 47562502 Baylor NTMT1 28989 hgsc.bcm.edu GRCh37 9 132395065 132395065 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372486.1:c.83del p.Asp28AlafsTer26 p.D28Afs*26 ENST00000372486 NM_001286796.1 28 gAc/gc 0 Frame_Shift_Del A 10 METTL11A DEL 9 A - 131434886 131434886 Baylor METTL12 751071 hgsc.bcm.edu GRCh37 11 62434104 62434104 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000532971.1:c.304G>A p.Asp102Asn p.D102N ENST00000532971 NM_001043229.1 102 Gat/Aat 0 Missense_Mutation G 41 METTL12 SNP 11 G A 62190680 62190680 Baylor MKL1 57591 hgsc.bcm.edu GRCh37 22 40825764 40825764 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355630.3:c.147G>A p.Ser49= p.S49= ENST00000355630 NM_020831.3 49 tcG/tcA 0 Silent C 23 MKL1 SNP 22 C T 39155710 39155710 Baylor C17orf50 146853 hgsc.bcm.edu GRCh37 17 34095328 34095329 + downstream_gene_variant 3'Flank INS - - GC novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000285023 NM_145272.3 0 Frame_Shift_Ins - 36 MMP28 INS 17 - GC 31119442 31119441 Baylor PWWP3A 84939 hgsc.bcm.edu GRCh37 19 1366312 1366312 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000344663.3:c.1296C>G p.Ser432Arg p.S432R ENST00000344663 432 agC/agG 0 Missense_Mutation C 27 MUM1 SNP 19 C G 1317312 1317312 Baylor MYBPC3 4607 hgsc.bcm.edu GRCh37 11 47359110 47359110 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000545968.1:c.2434A>C p.Lys812Gln p.K812Q ENST00000545968 NM_000256.3 812 Aag/Cag 0 Missense_Mutation T 62 MYBPC3 SNP 11 T G 47315686 47315686 Baylor MYL1 4632 hgsc.bcm.edu GRCh37 2 211158973 211158973 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000352451.3:c.474C>A p.Thr158= p.T158= ENST00000352451 NM_079420.2 158 acC/acA 0 Silent G 43 MYL1 SNP 2 G T 210867218 210867218 Baylor MYO18B 84700 hgsc.bcm.edu GRCh37 22 26164303 26164303 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000335473.7:c.420G>C p.Lys140Asn p.K140N ENST00000335473 NM_032608.5 140 aaG/aaC 0 Missense_Mutation G 33 MYO18B SNP 22 G C 24494303 24494303 Baylor NAV3 89795 hgsc.bcm.edu GRCh37 12 78513199 78513199 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000536525.2:c.3223T>C p.Ser1075Pro p.S1075P ENST00000536525 NM_014903.4 1075 Tca/Cca 0 Missense_Mutation T 58 NAV3 SNP 12 T C 77037330 77037330 Baylor NBAS 51594 hgsc.bcm.edu GRCh37 2 15613442 15613442 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000281513.5:c.1629G>C p.Leu543Phe p.L543F ENST00000281513 NM_015909.3 543 ttG/ttC 0 Missense_Mutation C 17 NBAS SNP 2 C G 15530893 15530893 Baylor NKTR 4820 hgsc.bcm.edu GRCh37 3 42680647 42680647 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000232978.8:c.3451G>A p.Ala1151Thr p.A1151T ENST00000232978 NM_005385.3 1151 Gca/Aca 0 Missense_Mutation G 46 NKTR SNP 3 G A 42655651 42655651 Baylor NOM1 64434 hgsc.bcm.edu GRCh37 7 156759098 156759098 + splice_donor_variant Splice_Site SNP T T A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000275820.3:c.2166+2T>A p.X722_splice ENST00000275820 NM_138400.1 0 Splice_Site_SNP T 57 NOM1 SNP 7 T A 156451859 156451859 Baylor NOTCH2 4853 hgsc.bcm.edu GRCh37 1 120457989 120457989 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000256646.2:c.7356G>A p.Gln2452= p.Q2452= ENST00000256646 NM_024408.3 2452 caG/caA 0 Silent C 28 NOTCH2 SNP 1 C T 120259512 120259512 Baylor OSBPL2 9885 hgsc.bcm.edu GRCh37 20 60856178 60856178 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000313733.3:c.739C>T p.Leu247= p.L247= ENST00000313733 NM_144498.2 247 Ctg/Ttg 0 Silent C 28 OSBPL2 SNP 20 C T 60289573 60289573 Baylor PALM2AKAP2 445815 hgsc.bcm.edu GRCh37 9 112899745 112899745 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374530.3:c.1921G>A p.Ala641Thr p.A641T ENST00000374530 NM_007203.4 641 Gcc/Acc 0 Missense_Mutation G 34 PALM2-AKAP2 SNP 9 G A 111939566 111939566 Baylor PCDHB15 56121 hgsc.bcm.edu GRCh37 5 140625295 140625297 + inframe_deletion In_Frame_Del DEL ATG ATG - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 ATG ATG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000231173.3:c.150_152del p.Asp51del p.D51del ENST00000231173 NM_018935.2 50 aATGac/aac 0 In_Frame_Del ATG 4 PCDHB15 DEL 5 ATG - 140605481 140605479 Baylor PCNXL3 399909 hgsc.bcm.edu GRCh37 11 65391960 65391960 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355703.3:c.2735C>A p.Pro912His p.P912H ENST00000355703 NM_032223.2 912 cCc/cAc 0 Missense_Mutation C 22 PCNXL3 SNP 11 C A 65148536 65148536 Baylor PDSS2 57107 hgsc.bcm.edu GRCh37 6 107595359 107595359 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369037.4:c.504A>G p.Leu168= p.L168= ENST00000369037 NM_020381.3 168 ttA/ttG 0 Silent T 61 PDSS2 SNP 6 T C 107702052 107702052 Baylor PDZD2 23037 hgsc.bcm.edu GRCh37 5 32090123 32090123 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000438447.1:c.6569del p.Leu2190ArgfsTer64 p.L2190Rfs*64 ENST00000438447 2190 cTg/cg 0 Frame_Shift_Del T 55 PDZD2 DEL 5 T - 32125880 32125880 Baylor PELI1 57162 hgsc.bcm.edu GRCh37 2 64322051 64322051 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358912.4:c.1042G>T p.Gly348Ter p.G348* ENST00000358912 NM_020651.3 348 Gga/Tga 0 Nonsense_Mutation C 21 PELI1 SNP 2 C A 64175555 64175555 Baylor PER2 8864 hgsc.bcm.edu GRCh37 2 239167255 239167255 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000254657.3:c.1658A>G p.Lys553Arg p.K553R ENST00000254657 NM_022817.2 553 aAa/aGa 0 Missense_Mutation T 64 PER2 SNP 2 T C 238831994 238831994 Baylor PFAS 5198 hgsc.bcm.edu GRCh37 17 8170363 8170365 + inframe_deletion In_Frame_Del DEL CGG CGG - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 CGG CGG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000314666.6:c.2985_2987del p.Asn995_Gly996delinsLys p.N995_G996delinsK ENST00000314666 NM_012393.2 995 aaCGGg/aag 0 In_Frame_Del CGG 19 PFAS DEL 17 CGG - 8111090 8111088 Baylor PHKA2 5256 hgsc.bcm.edu GRCh37 X 18915374 18915375 + frameshift_variant Frame_Shift_Del DEL CC CC - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 CC CC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000379942.4:c.3188_3189del p.Arg1063ProfsTer54 p.R1063Pfs*54 ENST00000379942 NM_000292.2 1063 cGG/c 0 Frame_Shift_Del CC 26 PHKA2 DEL 23 CC - 18825296 18825295 Baylor PLCE1 51196 hgsc.bcm.edu GRCh37 10 96058347 96058347 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371380.3:c.5379C>T p.Arg1793= p.R1793= ENST00000371380 1793 cgC/cgT 0 Silent C 25 PLCE1 SNP 10 C T 96048337 96048337 Baylor PRR16 51334 hgsc.bcm.edu GRCh37 5 120021809 120021809 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000379551.2:c.251C>A p.Pro84Gln p.P84Q ENST00000379551 NM_016644.1 84 cCa/cAa 0 Missense_Mutation C 21 PRR16 SNP 5 C A 120049708 120049708 Baylor PTK2B 2185 hgsc.bcm.edu GRCh37 8 27293836 27293836 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397501.1:c.1312G>C p.Glu438Gln p.E438Q ENST00000397501 NM_173174.2 438 Gag/Cag 0 Missense_Mutation G 41 PTK2B SNP 8 G C 27349753 27349753 Baylor PTPRG 5793 hgsc.bcm.edu GRCh37 3 62142767 62142767 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000474889.1:c.709G>T p.Val237Phe p.V237F ENST00000474889 NM_002841.3 237 Gtc/Ttc 0 Missense_Mutation G 40 PTPRG SNP 3 G T 62117807 62117807 Baylor QSER1 79832 hgsc.bcm.edu GRCh37 11 32979495 32979495 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399302.2:c.4445C>A p.Ser1482Tyr p.S1482Y ENST00000399302 NM_001076786.1 1482 tCc/tAc 0 Missense_Mutation C 30 QSER1 SNP 11 C A 32936071 32936071 Baylor RASA3 22821 hgsc.bcm.edu GRCh37 13 114817542 114817542 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000334062.7:c.262A>T p.Arg88Trp p.R88W ENST00000334062 NM_007368.2 88 Agg/Tgg 0 Missense_Mutation T 54 RASA3 SNP 13 T A 113835644 113835644 Baylor ROBO1 6091 hgsc.bcm.edu GRCh37 3 78988051 78988051 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000464233.1:c.199C>T p.Pro67Ser p.P67S ENST00000464233 NM_002941.3 67 Cca/Tca 0 Missense_Mutation G 41 ROBO1 SNP 3 G A 79070741 79070741 Baylor RPGRIP1 57096 hgsc.bcm.edu GRCh37 14 21793223 21793223 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000400017.2:c.2209C>T p.Leu737= p.L737= ENST00000400017 NM_020366.3 737 Ctg/Ttg 0 Silent C 20 RPGRIP1 SNP 14 C T 20863063 20863063 Baylor SALL4 57167 hgsc.bcm.edu GRCh37 20 50408303 50408303 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000217086.4:c.719del p.Asn240ThrfsTer18 p.N240Tfs*18 ENST00000217086 NM_020436.3 240 aAc/ac 0 Frame_Shift_Del T 60 SALL4 DEL 20 T - 49841710 49841710 Baylor SCN4A 6329 hgsc.bcm.edu GRCh37 17 62022832 62022832 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000435607.1:c.3608T>A p.Val1203Asp p.V1203D ENST00000435607 NM_000334.4 1203 gTc/gAc 0 Missense_Mutation A 10 SCN4A SNP 17 A T 59376564 59376564 Baylor SERINC4 619189 hgsc.bcm.edu GRCh37 15 44087267 44087267 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000319327.6:c.1488C>T p.Pro496= p.P496= ENST00000319327 NM_001258031.1 496 ccC/ccT 0 Silent G 43 SERINC4 SNP 15 G A 41874559 41874559 Baylor SF3A3 10946 hgsc.bcm.edu GRCh37 1 38444463 38444463 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373019.4:c.864C>T p.Thr288= p.T288= ENST00000373019 NM_006802.2 288 acC/acT 0 Silent G 47 SF3A3 SNP 1 G A 38217050 38217050 Baylor SIGLEC9 27180 hgsc.bcm.edu GRCh37 19 51631680 51631681 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000440804.3:c.1117dup p.Cys373LeufsTer53 p.C373Lfs*53 ENST00000440804 NM_001198558.1 372 -/T 0 Frame_Shift_Ins - 24 SIGLEC9 INS 19 - T 56323493 56323492 Baylor SIM1 6492 hgsc.bcm.edu GRCh37 6 100838725 100838725 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369208.3:c.1813T>A p.Cys605Ser p.C605S ENST00000369208 605 Tgt/Agt 0 Missense_Mutation A 6 SIM1 SNP 6 A T 100945446 100945446 Baylor SLC34A2 10568 hgsc.bcm.edu GRCh37 4 25677845 25677845 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000382051.3:c.1547A>C p.Lys516Thr p.K516T ENST00000382051 NM_006424.2 516 aAg/aCg 0 Missense_Mutation A 3 SLC34A2 SNP 4 A C 25286943 25286943 Baylor SLC35E1 79939 hgsc.bcm.edu GRCh37 19 16682365 16682365 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000595753.1:c.450C>T p.Val150= p.V150= ENST00000595753 NM_024881.4 150 gtC/gtT 0 Silent G 41 SLC35E1 SNP 19 G A 16543365 16543365 Baylor SOAT2 8435 hgsc.bcm.edu GRCh37 12 53498991 53498991 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000301466.3:c.239A>C p.Lys80Thr p.K80T ENST00000301466 NM_003578.3 80 aAa/aCa 0 Missense_Mutation A 1 SOAT2 SNP 12 A C 51785258 51785258 Baylor SPC24 147841 hgsc.bcm.edu GRCh37 19 11259880 11259880 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000592540.1:c.195C>T p.Ser65= p.S65= ENST00000592540 NM_182513.2 65 agC/agT 0 Silent G 42 SPC24 SNP 19 G A 11120880 11120880 Baylor SPG7 6687 hgsc.bcm.edu GRCh37 16 89613094 89613095 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000268704.2:c.1479dup p.Lys494GlufsTer27 p.K494Efs*27 ENST00000268704 NM_003119.2 493 ctg/ctGg 0 Frame_Shift_Ins - 55 SPG7 INS 16 - G 88140596 88140595 Baylor SPTB 6710 hgsc.bcm.edu GRCh37 14 65262170 65262172 + inframe_deletion In_Frame_Del DEL CAT CAT - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 CAT CAT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000389722.3:c.1527_1529del p.Trp510del p.W510del ENST00000389722 NM_001024858.2 509 ctATGg/ctg 0 In_Frame_Del CAT 21 SPTB DEL 14 CAT - 64331925 64331923 Baylor SPTBN2 6712 hgsc.bcm.edu GRCh37 11 66457568 66457568 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000533211.1:c.5752G>T p.Glu1918Ter p.E1918* ENST00000533211 1918 Gaa/Taa 0 Nonsense_Mutation C 30 SPTBN2 SNP 11 C A 66214144 66214144 Baylor SYT5 6861 hgsc.bcm.edu GRCh37 19 55687455 55687455 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354308.3:c.290C>A p.Ser97Tyr p.S97Y ENST00000354308 NM_003180.2 97 tCc/tAc 0 Missense_Mutation G 41 SYT5 SNP 19 G T 60379267 60379267 Baylor SYT5 6861 hgsc.bcm.edu GRCh37 19 55687457 55687458 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354308.3:c.287_288insT p.Ser97IlefsTer12 p.S97Ifs*12 ENST00000354308 NM_003180.2 96 cca/ccTa 0 Frame_Shift_Ins - 51 SYT5 INS 19 - A 60379270 60379269 Baylor TAF12 6883 hgsc.bcm.edu GRCh37 1 28931966 28931966 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263974.4:c.368A>G p.Gln123Arg p.Q123R ENST00000263974 NM_001135218.1 123 cAg/cGg 0 Missense_Mutation T 55 TAF12 SNP 1 T C 28804553 28804553 Baylor TCF20 6942 hgsc.bcm.edu GRCh37 22 42608310 42608310 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359486.3:c.3002T>G p.Met1001Arg p.M1001R ENST00000359486 NM_005650.2 1001 aTg/aGg 0 Missense_Mutation A 8 TCF20 SNP 22 A C 40938254 40938254 Baylor TECPR2 9895 hgsc.bcm.edu GRCh37 14 102901037 102901037 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359520.7:c.1883A>T p.Glu628Val p.E628V ENST00000359520 NM_014844.3 628 gAa/gTa 0 Missense_Mutation A 9 TECPR2 SNP 14 A T 101970790 101970790 Baylor TFDP1 7027 hgsc.bcm.edu GRCh37 13 114292203 114292203 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375370.5:c.1077C>T p.Phe359= p.F359= ENST00000375370 NM_007111.4 359 ttC/ttT 0 Silent C 32 TFDP1 SNP 13 C T 113340204 113340204 Baylor TMEM120B 144404 hgsc.bcm.edu GRCh37 12 122213582 122213582 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000449592.2:c.974T>G p.Val325Gly p.V325G ENST00000449592 NM_001080825.2 325 gTg/gGg 0 Missense_Mutation T 59 TMEM120B SNP 12 T G 120697965 120697965 Baylor TNN 63923 hgsc.bcm.edu GRCh37 1 175067580 175067580 + synonymous_variant Silent SNP T T C rs61747978 Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000239462.4:c.1968T>C p.Ser656= p.S656= ENST00000239462 NM_022093.1 656 tcT/tcC 0 Silent T 55 TNN SNP 1 T C 173334203 173334203 Baylor TRIM59 286827 hgsc.bcm.edu GRCh37 3 160156368 160156368 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000309784.4:c.604delA p.Ser202ValfsTer3 p.S202Vfs*3 ENST00000309784 NM_173084.2 202 Agt/gt 0 Frame_Shift_Del T 56 TRIM59 DEL 3 T - 161639062 161639062 Baylor TRPM3 80036 hgsc.bcm.edu GRCh37 9 73478010 73478010 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377110.3:c.276del p.Ile93Ter p.I93* ENST00000377110 92 ctG/ct 0 Frame_Shift_Del C 29 TRPM3 DEL 9 C - 72667830 72667830 Baylor TTN 7273 hgsc.bcm.edu GRCh37 2 179426390 179426390 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000589042.1:c.84469C>A p.Pro28157Thr p.P28157T ENST00000589042 NM_001267550.1 28157 Cct/Act 0 Missense_Mutation G 41 TTN SNP 2 G T 179134636 179134636 Baylor UBA1 7317 hgsc.bcm.edu GRCh37 X 47060332 47060332 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000335972.6:c.520del p.Arg174GlufsTer33 p.R174Efs*33 ENST00000335972 NM_003334.3 174 Cga/ga 0 Frame_Shift_Del C 27 UBA1 DEL 23 C - 46945276 46945276 Baylor USP6 9098 hgsc.bcm.edu GRCh37 17 5037241 5037241 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000574788.1:c.444G>A p.Val148= p.V148= ENST00000574788 148 gtG/gtA 0 Silent G 45 USP6 SNP 17 G A 4977965 4977965 Baylor VMO1 284013 hgsc.bcm.edu GRCh37 17 4688863 4688863 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328739.5:c.403G>A p.Asp135Asn p.D135N ENST00000328739 NM_182566.2 135 Gac/Aac 0 Missense_Mutation C 29 VMO1 SNP 17 C T 4635603 4635603 Baylor VPS13B 157680 hgsc.bcm.edu GRCh37 8 100866453 100866453 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358544.2:c.10911G>T p.Met3637Ile p.M3637I ENST00000358544 NM_017890.4 3637 atG/atT 0 Missense_Mutation G 46 VPS13B SNP 8 G T 100935629 100935629 Baylor WDR33 55339 hgsc.bcm.edu GRCh37 2 128463979 128463980 + frameshift_variant Frame_Shift_Ins INS - - CACTTCT novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000322313.4:c.3928_3929insAGAAGTG p.Gly1310GlufsTer5 p.G1310Efs*5 ENST00000322313 NM_018383.4 1310 ggc/gAGAAGTGgc 0 Frame_Shift_Ins - 26 WDR33 INS 2 - CACTTCT 128180450 128180449 Baylor WDR59 79726 hgsc.bcm.edu GRCh37 16 74943516 74943516 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262144.6:c.1525C>T p.Pro509Ser p.P509S ENST00000262144 NM_030581.3 509 Ccc/Tcc 0 Missense_Mutation G 43 WDR59 SNP 16 G A 73501017 73501017 Baylor WISP2 8839 hgsc.bcm.edu GRCh37 20 43344046 43344046 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372868.2:c.15G>C p.Pro5= p.P5= ENST00000372868 5 ccG/ccC 0 Silent G 37 WISP2 SNP 20 G C 42777460 42777460 Baylor WSCD1 23302 hgsc.bcm.edu GRCh37 17 5993765 5993767 + inframe_deletion In_Frame_Del DEL GGG GGG - novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 GGG GGG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000574946.1:c.668_670del p.Gly223del p.G223del ENST00000574946 223 GGG/- 0 In_Frame_Del GGG 39 WSCD1 DEL 17 GGG - 5934491 5934489 Baylor ZMIZ2 83637 hgsc.bcm.edu GRCh37 7 44800159 44800159 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000309315.4:c.1207C>G p.Pro403Ala p.P403A ENST00000309315 NM_031449.3 403 Ccc/Gcc 0 Missense_Mutation C 26 ZMIZ2 SNP 7 C G 44766684 44766684 Baylor ZMIZ2 83637 hgsc.bcm.edu GRCh37 7 44804074 44804074 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000309315.4:c.1917T>A p.Cys639Ter p.C639* ENST00000309315 NM_031449.3 639 tgT/tgA 0 Nonsense_Mutation T 58 ZMIZ2 SNP 7 T A 44770599 44770599 Baylor ZNF281 23528 hgsc.bcm.edu GRCh37 1 200377683 200377683 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000294740.3:c.1151A>G p.Asn384Ser p.N384S ENST00000294740 NM_001281293.1 384 aAc/aGc 0 Missense_Mutation T 60 ZNF281 SNP 1 T C 198644306 198644306 Baylor ZNF500 26048 hgsc.bcm.edu GRCh37 16 4802736 4802736 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000219478.6:c.1084T>G p.Phe362Val p.F362V ENST00000219478 362 Ttt/Gtt 0 Missense_Mutation A 3 ZNF500 SNP 16 A C 4742737 4742737 Baylor ZNF689 115509 hgsc.bcm.edu GRCh37 16 30616582 30616582 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000287461.3:c.506G>T p.Cys169Phe p.C169F ENST00000287461 NM_138447.2 169 tGc/tTc 0 Missense_Mutation C 25 ZNF689 SNP 16 C A 30524083 30524083 Baylor ZNRF4 148066 hgsc.bcm.edu GRCh37 19 5456269 5456269 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1408-01 TCGA-13-1408-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000222033.4:c.767G>C p.Trp256Ser p.W256S ENST00000222033 NM_181710.3 256 tGg/tCg 0 Missense_Mutation G 47 ZNRF4 SNP 19 G C 5407269 5407269 Baylor CRBN 51185 genome.wustl.edu GRCh37 3 3215765 3215765 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000231948.4:c.355A>G p.Thr119Ala p.T119A ENST00000231948 NM_016302.3 119 Acc/Gcc 0 Missense_Mutation T 60 CRBN SNP 3 T C 3190765 3190765 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578479 7578479 + missense_variant Missense_Mutation SNP G G A rs28934874 Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.451C>T p.Pro151Ser p.P151S ENST00000269305 NM_001126112.2 151 Ccc/Tcc 0 Missense_Mutation G 44 TP53 SNP 17 G A 7519204 7519204 WashU OR10H5 284433 genome.wustl.edu GRCh37 19 15904980 15904980 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308940.8:c.122G>A p.Gly41Asp p.G41D ENST00000308940 NM_001004466.1 41 gGc/gAc 0 Missense_Mutation G 42 OR10H5 SNP 19 G A 15765980 15765980 WashU IGSF22 283284 genome.wustl.edu GRCh37 11 18730933 18730933 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000513874.1:c.2998+1G>A p.X1000_splice ENST00000513874 NM_173588.3 0 Splice_Site_SNP C 18 IGSF22 SNP 11 C T 18687509 18687509 WashU GPR139 124274 genome.wustl.edu GRCh37 16 20043233 20043233 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000570682.1:c.886G>T p.Ala296Ser p.A296S ENST00000570682 NM_001002911.2 296 Gca/Tca 0 Missense_Mutation C 26 GPR139 SNP 16 C A 19950734 19950734 WashU GPR139 124274 genome.wustl.edu GRCh37 16 20043353 20043353 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000570682.1:c.766C>T p.Pro256Ser p.P256S ENST00000570682 NM_001002911.2 256 Ccc/Tcc 0 Missense_Mutation G 42 GPR139 SNP 16 G A 19950854 19950854 WashU CEBPE 1053 genome.wustl.edu GRCh37 14 23588243 23588243 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000206513.5:c.58T>A p.Phe20Ile p.F20I ENST00000206513 NM_001805.3 20 Ttc/Atc 0 Missense_Mutation A 2 CEBPE SNP 14 A T 22658083 22658083 WashU MYO18B 84700 genome.wustl.edu GRCh37 22 26388430 26388430 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335473.7:c.6258A>C p.Glu2086Asp p.E2086D ENST00000335473 NM_032608.5 2086 gaA/gaC 0 Missense_Mutation A 3 MYO18B SNP 22 A C 24718430 24718430 WashU SEC14L6 730005 genome.wustl.edu GRCh37 22 30921840 30921840 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000402034.2:c.744C>T p.Pro248= p.P248= ENST00000402034 NM_001193336.2 248 ccC/ccT 0 Silent G 39 LOC730005 SNP 22 G A 29251840 29251840 WashU FBRS 64319 genome.wustl.edu GRCh37 16 30680724 30680724 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356166.6:c.2701G>T p.Gly901Cys p.G901C ENST00000356166 901 Ggt/Tgt 0 Missense_Mutation G 43 FBRS SNP 16 G T 30588225 30588225 WashU ITGAX 3687 genome.wustl.edu GRCh37 16 31374588 31374588 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268296.4:c.1603A>C p.Lys535Gln p.K535Q ENST00000268296 NM_000887.3 535 Aag/Cag 0 Missense_Mutation A 5 ITGAX SNP 16 A C 31282089 31282089 WashU GALNT1 2589 genome.wustl.edu GRCh37 18 33272183 33272183 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269195.5:c.1198G>A p.Val400Ile p.V400I ENST00000269195 NM_020474.3 400 Gtt/Att 0 Missense_Mutation G 36 GALNT1 SNP 18 G A 31526181 31526181 WashU STARD13 90627 genome.wustl.edu GRCh37 13 33716466 33716466 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336934.5:c.368T>A p.Val123Glu p.V123E ENST00000336934 NM_178006.3 123 gTg/gAg 0 Missense_Mutation A 6 STARD13 SNP 13 A T 32614466 32614466 WashU SYNGAP1 8831 genome.wustl.edu GRCh37 6 33405745 33405745 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000418600.2:c.1063G>A p.Gly355Arg p.G355R ENST00000418600 NM_006772.2 355 Ggg/Agg 0 Missense_Mutation G 47 SYNGAP1 SNP 6 G A 33513723 33513723 WashU MELK 9833 genome.wustl.edu GRCh37 9 36671029 36671029 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298048.2:c.1540C>T p.His514Tyr p.H514Y ENST00000298048 NM_014791.3 514 Cat/Tat 0 Missense_Mutation C 17 MELK SNP 9 C T 36661029 36661029 WashU CNTN1 1272 genome.wustl.edu GRCh37 12 41419103 41419103 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000551295.2:c.2675C>A p.Pro892Gln p.P892Q ENST00000551295 NM_001843.3 892 cCa/cAa 0 Missense_Mutation C 21 CNTN1 SNP 12 C A 39705370 39705370 WashU RIPK4 54101 genome.wustl.edu GRCh37 21 43161430 43161430 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332512.3:c.1923G>A p.Leu641= p.L641= ENST00000332512 NM_020639.2 641 ctG/ctA 0 Missense_Mutation C 25 RIPK4 SNP 21 C T 42034499 42034499 WashU ZSWIM3 140831 genome.wustl.edu GRCh37 20 44505469 44505469 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000255152.2:c.272T>A p.Leu91Gln p.L91Q ENST00000255152 NM_080752.3 91 cTa/cAa 0 Missense_Mutation T 53 ZSWIM3 SNP 20 T A 43938876 43938876 WashU NCOA3 8202 genome.wustl.edu GRCh37 20 46262903 46262903 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371998.3:c.1076A>T p.Asp359Val p.D359V ENST00000371998 359 gAt/gTt 0 Missense_Mutation A 12 NCOA3 SNP 20 A T 45696310 45696310 WashU CKAP5 9793 genome.wustl.edu GRCh37 11 46818491 46818491 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000529230.1:c.1339-1G>A p.X447_splice ENST00000529230 0 Splice_Site_SNP C 28 CKAP5 SNP 11 C T 46775067 46775067 WashU CORIN 10699 genome.wustl.edu GRCh37 4 47667238 47667238 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273857.4:c.1400C>G p.Pro467Arg p.P467R ENST00000273857 NM_006587.3 467 cCc/cGc 0 Missense_Mutation G 43 CORIN SNP 4 G C 47361995 47361995 WashU ZNF222 7673 genome.wustl.edu GRCh37 19 44536079 44536079 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000391960.3:c.372A>C p.Gln124His p.Q124H ENST00000391960 NM_001129996.1 124 caA/caC 0 Missense_Mutation A 3 ZNF222 SNP 19 A C 49227919 49227919 WashU MARS 4141 genome.wustl.edu GRCh37 12 57908505 57908505 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262027.5:c.1970C>T p.Ala657Val p.A657V ENST00000262027 NM_004990.3 657 gCt/gTt 0 Missense_Mutation C 28 MARS SNP 12 C T 56194772 56194772 WashU FAM208A 23272 genome.wustl.edu GRCh37 3 56675697 56675697 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000493960.2:c.2299G>C p.Asp767His p.D767H ENST00000493960 NM_001112736.1 767 Gac/Cac 0 Missense_Mutation C 29 C3orf63 SNP 3 C G 56650737 56650737 WashU ZNF649 65251 genome.wustl.edu GRCh37 19 52400191 52400191 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354957.3:c.56G>A p.Trp19Ter p.W19* ENST00000354957 NM_023074.3 19 tGg/tAg 0 Nonsense_Mutation C 21 ZNF649 SNP 19 C T 57092003 57092003 WashU PENK 5179 genome.wustl.edu GRCh37 8 57353989 57353989 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314922.3:c.646A>G p.Arg216Gly p.R216G ENST00000314922 NM_006211.3 216 Aga/Gga 0 Missense_Mutation T 56 PENK SNP 8 T C 57516543 57516543 WashU ZNF813 126017 genome.wustl.edu GRCh37 19 53995002 53995002 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396403.4:c.1516C>T p.Arg506Trp p.R506W ENST00000396403 NM_001004301.3 506 Cgg/Tgg 0 Missense_Mutation C 31 ZNF813 SNP 19 C T 58686814 58686814 WashU RTN1 6252 genome.wustl.edu GRCh37 14 60212554 60212554 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000267484.5:c.887C>A p.Thr296Asn p.T296N ENST00000267484 NM_021136.2 296 aCc/aAc 0 Missense_Mutation G 44 RTN1 SNP 14 G T 59282307 59282307 WashU LILRA2 11027 genome.wustl.edu GRCh37 19 55086380 55086380 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000251377.3:c.535A>G p.Ile179Val p.I179V ENST00000251377 179 Atc/Gtc 0 Missense_Mutation A 8 LILRA2 SNP 19 A G 59778192 59778192 WashU NLRP8 126205 genome.wustl.edu GRCh37 19 56477747 56477747 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000291971.3:c.2381+1G>T p.X794_splice ENST00000291971 NM_176811.2 0 Splice_Site_SNP G 44 NLRP8 SNP 19 G T 61169559 61169559 WashU SUV420H1 51111 genome.wustl.edu GRCh37 11 67925805 67925805 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304363.4:c.2008C>A p.Pro670Thr p.P670T ENST00000304363 NM_017635.3 670 Cct/Act 0 Missense_Mutation G 41 SUV420H1 SNP 11 G T 67682381 67682381 WashU HYDIN 54768 genome.wustl.edu GRCh37 16 71103360 71103360 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393567.2:c.1784T>A p.Ile595Asn p.I595N ENST00000393567 NM_001270974.1 595 aTc/aAc 0 Missense_Mutation A 12 HYDIN SNP 16 A T 69660861 69660861 WashU TNRC6C 57690 genome.wustl.edu GRCh37 17 76046839 76046839 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335749.4:c.1696G>T p.Asp566Tyr p.D566Y ENST00000335749 NM_001142640.1 566 Gac/Tac 0 Missense_Mutation G 41 TNRC6C SNP 17 G T 73558434 73558434 WashU VSX2 338917 genome.wustl.edu GRCh37 14 74711917 74711917 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261980.2:c.505G>A p.Glu169Lys p.E169K ENST00000261980 NM_182894.2 169 Gaa/Aaa 0 Missense_Mutation G 37 VSX2 SNP 14 G A 73781670 73781670 WashU ME1 4199 genome.wustl.edu GRCh37 6 83926303 83926303 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369705.3:c.1462C>A p.Gln488Lys p.Q488K ENST00000369705 NM_002395.4 488 Caa/Aaa 0 Missense_Mutation G 46 ME1 SNP 6 G T 83983022 83983022 WashU TRRAP 8295 genome.wustl.edu GRCh37 7 98592278 98592278 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359863.4:c.10074G>T p.Val3358= p.V3358= ENST00000359863 NM_001244580.1 3358 gtG/gtT 0 Silent G 48 TRRAP SNP 7 G T 98430214 98430214 WashU ZKSCAN1 7586 genome.wustl.edu GRCh37 7 99621928 99621928 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324306.6:c.578G>A p.Arg193Gln p.R193Q ENST00000324306 NM_003439.1 193 cGa/cAa 0 Missense_Mutation G 37 ZKSCAN1 SNP 7 G A 99459864 99459864 WashU C10orf2 56652 genome.wustl.edu GRCh37 10 102748277 102748277 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311916.2:c.310A>T p.Ile104Phe p.I104F ENST00000311916 NM_021830.4 104 Att/Ttt 0 Missense_Mutation A 8 C10orf2 SNP 10 A T 102738267 102738267 WashU COL17A1 1308 genome.wustl.edu GRCh37 10 105817941 105817941 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000353479.5:c.1230G>A p.Leu410= p.L410= ENST00000353479 NM_000494.3 410 ctG/ctA 0 Silent C 29 COL17A1 SNP 10 C T 105807931 105807931 WashU ZC3H6 376940 genome.wustl.edu GRCh37 2 113088582 113088582 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000409871.1:c.2087A>G p.Asp696Gly p.D696G ENST00000409871 NM_198581.2 696 gAt/gGt 0 Missense_Mutation A 12 ZC3H6 SNP 2 A G 112805053 112805053 WashU PNLIPRP3 119548 genome.wustl.edu GRCh37 10 118236234 118236234 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369230.3:c.1243A>T p.Ser415Cys p.S415C ENST00000369230 NM_001011709.2 415 Agt/Tgt 0 Missense_Mutation A 3 PNLIPRP3 SNP 10 A T 118226224 118226224 WashU CCDC60 160777 genome.wustl.edu GRCh37 12 119937928 119937928 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327554.2:c.603C>A p.Asp201Glu p.D201E ENST00000327554 NM_178499.3 201 gaC/gaA 0 Missense_Mutation C 17 CCDC60 SNP 12 C A 118422311 118422311 WashU HSD3B1 3283 genome.wustl.edu GRCh37 1 120057191 120057191 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369413.3:c.1045G>T p.Ala349Ser p.A349S ENST00000369413 349 Gcc/Tcc 0 Missense_Mutation G 34 HSD3B1 SNP 1 G T 119858714 119858714 WashU FGF2 2247 genome.wustl.edu GRCh37 4 123813548 123813548 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264498.3:c.864C>G p.Ser288Arg p.S288R ENST00000264498 NM_002006.4 288 agC/agG 0 Missense_Mutation C 28 FGF2 SNP 4 C G 124032998 124032998 WashU VNN1 8876 genome.wustl.edu GRCh37 6 133004364 133004364 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367928.4:c.1457C>G p.Ser486Ter p.S486* ENST00000367928 NM_004666.2 486 tCa/tGa 0 Nonsense_Mutation G 45 VNN1 SNP 6 G C 133046057 133046057 WashU PGLYRP3 114771 genome.wustl.edu GRCh37 1 153283093 153283093 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000290722.1:c.49G>A p.Ala17Thr p.A17T ENST00000290722 NM_052891.1 17 Gct/Act 0 Missense_Mutation C 26 PGLYRP3 SNP 1 C T 151549717 151549717 WashU INSRR 3645 genome.wustl.edu GRCh37 1 156823702 156823702 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368195.3:c.479C>G p.Pro160Arg p.P160R ENST00000368195 NM_014215.2 160 cCa/cGa 0 Missense_Mutation G 47 INSRR SNP 1 G C 155090326 155090326 WashU PKP4 8502 genome.wustl.edu GRCh37 2 159477843 159477843 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389759.3:c.513G>C p.Lys171Asn p.K171N ENST00000389759 NM_003628.3 171 aaG/aaC 0 Missense_Mutation G 35 PKP4 SNP 2 G C 159186089 159186089 WashU LAMB3 3914 genome.wustl.edu GRCh37 1 209790790 209790790 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000391911.1:c.3193G>T p.Glu1065Ter p.E1065* ENST00000391911 NM_001017402.1 1065 Gaa/Taa 0 Nonsense_Mutation C 30 LAMB3 SNP 1 C A 207857413 207857413 WashU CAPN9 10753 genome.wustl.edu GRCh37 1 230928621 230928621 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271971.2:c.1817A>T p.Asp606Val p.D606V ENST00000271971 NM_006615.2 606 gAc/gTc 0 Missense_Mutation A 10 CAPN9 SNP 1 A T 228995244 228995244 WashU PLD5 200150 genome.wustl.edu GRCh37 1 242277237 242277237 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000536534.2:c.1025T>G p.Ile342Ser p.I342S ENST00000536534 342 aTc/aGc 0 Missense_Mutation A 12 PLD5 SNP 1 A C 240343860 240343860 WashU GGCX 2677 genome.wustl.edu GRCh37 2 85785630 85785643 + frameshift_variant Frame_Shift_Del DEL TCCATGATGTCTTG TCCATGATGTCTTG - novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 TCCATGATGTCTTG TCCATGATGTCTTG TCCATGATGTCTTG - TCCATGATGTCTTG TCCATGATGTCTTG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000233838.4:c.459_472del p.Asp153GlufsTer33 p.D153Efs*33 ENST00000233838 NM_000821.5 153 gaCAAGACATCATGGAac/gaac 0 Frame_Shift_Del TCCATGATGTCTTG 62 GGCX DEL 2 TCCATGATGTCTTG - 85639154 85639141 WashU GSR 2936 genome.wustl.edu GRCh37 8 30567420 30567421 + splice_acceptor_variant Splice_Site DEL CT CT - novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C - - C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000221130.5:c.334-2_334-1del p.X112_splice ENST00000221130 NM_000637.3 0 Splice_Site_Del C 24 GSR DEL 8 - C 30686963 30686962 WashU SRGAP2 23380 genome.wustl.edu GRCh37 1 206632235 206632235 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295713.5:c.2514C>A p.Ala839Glu p.A839E ENST00000295713 839 gCg/gAg 0 Missense_Mutation C 27 SRGAP2 SNP 1 C A 204698858 204698858 WashU CRTAC1 55118 genome.wustl.edu GRCh37 10 99655652 99655652 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370597.3:c.1307G>T p.Arg436Leu p.R436L ENST00000370597 NM_018058.6 436 cGg/cTg 0 Missense_Mutation C 23 CRTAC1 SNP 10 C A 99645642 99645642 WashU PATL1 219988 genome.wustl.edu GRCh37 11 59423058 59423058 + synonymous_variant Silent SNP G G C Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000300146.9:c.969C>G p.Pro323= p.P323= ENST00000300146 NM_152716.2 323 ccC/ccG 0 Silent G 35 PATL1 SNP 11 G C 59179634 59179634 WashU TMEM132B 114795 genome.wustl.edu GRCh37 12 126068411 126068411 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299308.3:c.1293G>T p.Leu431Phe p.L431F ENST00000299308 NM_052907.2 431 ttG/ttT 0 Missense_Mutation G 45 TMEM132B SNP 12 G T 124634364 124634364 WashU TDRD9 122402 genome.wustl.edu GRCh37 14 104482383 104482383 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409874.4:c.2289G>T p.Ala763= p.A763= ENST00000409874 NM_153046.2 763 gcG/gcT 0 Silent G 39 TDRD9 SNP 14 G T 103552136 103552136 WashU THBS1 7057 genome.wustl.edu GRCh37 15 39874834 39874835 + missense_variant Missense_Mutation DNP GA GA TT novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260356.5:c.508_509delinsTT p.Asp170Phe p.D170F ENST00000260356 NM_003246.2 170 GAc/TTc 0 Missense GA 37 THBS1 DNP 15 GA TT 37662127 37662126 WashU VPS18 57617 genome.wustl.edu GRCh37 15 41193072 41193072 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000220509.5:c.2056G>A p.Ala686Thr p.A686T ENST00000220509 NM_020857.2 686 Gct/Act 0 Missense_Mutation G 42 VPS18 SNP 15 G A 38980364 38980364 WashU RBL2 5934 genome.wustl.edu GRCh37 16 53524061 53524061 + missense_variant Missense_Mutation SNP G G T Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000262133.6:c.3269G>T p.Ser1090Ile p.S1090I ENST00000262133 NM_005611.3 1090 aGt/aTt 0 Missense_Mutation G 36 RBL2 SNP 16 G T 52081562 52081562 WashU SLC14A2 8170 genome.wustl.edu GRCh37 18 43262376 43262376 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000255226.6:c.2655G>A p.Pro885= p.P885= ENST00000255226 NM_007163.3 885 ccG/ccA 0 Silent G 38 SLC14A2 SNP 18 G A 41516374 41516374 WashU PELI1 57162 genome.wustl.edu GRCh37 2 64322049 64322050 + missense_variant Missense_Mutation DNP TC TC AT novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358912.4:c.1043_1044delinsAT p.Gly348Asp p.G348D ENST00000358912 NM_020651.3 348 gGA/gAT 0 Missense TC 50 PELI1 DNP 2 TC AT 64175554 64175553 WashU CDCP1 64866 genome.wustl.edu GRCh37 3 45127495 45127495 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296129.1:c.2146C>G p.Pro716Ala p.P716A ENST00000296129 NM_022842.4 716 Ccg/Gcg 0 Missense_Mutation G 42 CDCP1 SNP 3 G C 45102499 45102499 WashU ANKHD1 54882 genome.wustl.edu GRCh37 5 139903719 139903719 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297183.6:c.4386G>A p.Lys1462= p.K1462= ENST00000297183 NM_020690.5 1462 aaG/aaA 0 Silent G 33 ANKHD1-EIF4EBP3 SNP 5 G A 139883903 139883903 WashU TRIM23 373 genome.wustl.edu GRCh37 5 64892342 64892342 + synonymous_variant Silent SNP A A G Unknown TCGA-23-1118-01 TCGA-23-1118-10 A A A G A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000231524.9:c.1326T>C p.Thr442= p.T442= ENST00000231524 NM_001656.3 442 acT/acC 0 Silent A 7 TRIM23 SNP 5 A G 64928098 64928098 WashU SLC35D3 340146 genome.wustl.edu GRCh37 6 137245563 137245563 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331858.4:c.980G>C p.Gly327Ala p.G327A ENST00000331858 NM_001008783.1 327 gGa/gCa 0 Missense_Mutation G 41 SLC35D3 SNP 6 G C 137287256 137287256 WashU SLC25A5 292 genome.wustl.edu GRCh37 X 118603984 118603984 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000317881.8:c.472G>A p.Gly158Ser p.G158S ENST00000317881 NM_001152.4 158 Ggt/Agt 0 Missense_Mutation G 39 SLC25A5 SNP 23 G A 118488012 118488012 WashU DDA1 79016 genome.wustl.edu GRCh37 19 17425170 17425170 + synonymous_variant Silent SNP G G T Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000359866.4:c.108G>T p.Leu36= p.L36= ENST00000359866 NM_024050.5 36 ctG/ctT 0 Silent G 46 DDA1 SNP 19 G T 17286170 17286170 WashU ASNSD1 54529 genome.wustl.edu GRCh37 2 190531843 190531843 + missense_variant Missense_Mutation SNP G G T Unknown TCGA-23-1118-01 TCGA-23-1118-10 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000260952.4:c.985G>T p.Gly329Cys p.G329C ENST00000260952 NM_019048.2 329 Ggc/Tgc 0 Missense_Mutation G 43 ASNSD1 SNP 2 G T 190240088 190240088 WashU HCFC1 3054 genome.wustl.edu GRCh37 X 153222894 153222894 + missense_variant Missense_Mutation SNP T T C Unknown TCGA-23-1118-01 TCGA-23-1118-10 T T T C T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000310441.7:c.2224A>G p.Ser742Gly p.S742G ENST00000310441 NM_005334.2 742 Agt/Ggt 0 Missense_Mutation T 55 HCFC1 SNP 23 T C 152876088 152876088 WashU ADAMTS4 9507 hgsc.bcm.edu GRCh37 1 161161089 161161089 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367996.5:c.2353G>T p.Val785Phe p.V785F ENST00000367996 NM_005099.4 785 Gtc/Ttc 0 Missense_Mutation C 20 ADAMTS4 SNP 1 C A 159427713 159427713 Baylor ANKAR 150709 hgsc.bcm.edu GRCh37 2 190608163 190608163 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000520309.1:c.3973C>G p.Gln1325Glu p.Q1325E ENST00000520309 NM_144708.3 1325 Caa/Gaa 0 Missense_Mutation C 29 ANKAR SNP 2 C G 190316408 190316408 Baylor ANKRD55 79722 hgsc.bcm.edu GRCh37 5 55455707 55455707 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000341048.4:c.436C>A p.Leu146Met p.L146M ENST00000341048 NM_024669.2 146 Ctg/Atg 0 Missense_Mutation G 35 ANKRD55 SNP 5 G T 55491464 55491464 Baylor APC 324 hgsc.bcm.edu GRCh37 5 112173846 112173846 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000257430.4:c.2555T>C p.Leu852Ser p.L852S ENST00000257430 NM_000038.5 852 tTg/tCg 0 Missense_Mutation T 63 APC SNP 5 T C 112201745 112201745 Baylor BAZ1A 11177 hgsc.bcm.edu GRCh37 14 35263993 35263993 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360310.1:c.1325T>C p.Phe442Ser p.F442S ENST00000360310 NM_013448.2 442 tTt/tCt 0 Missense_Mutation A 1 BAZ1A SNP 14 A G 34333744 34333744 Baylor BCAT2 587 hgsc.bcm.edu GRCh37 19 49309972 49309972 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000316273.6:c.102del p.Ala35GlnfsTer7 p.A35Qfs*7 ENST00000316273 NM_001190.3 34 gcT/gc 0 Frame_Shift_Del A 7 BCAT2 DEL 19 A - 54001784 54001784 Baylor BRD8 10902 hgsc.bcm.edu GRCh37 5 137501705 137501705 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T T A T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000254900.5:c.1090A>T p.Ile364Phe p.I364F ENST00000254900 NM_139199.1 364 Atc/Ttc 0 Missense_Mutation T 51 BRD8 SNP 5 T A 137529604 137529604 Baylor C10orf12 84458 hgsc.bcm.edu GRCh37 10 98742724 98742724 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000286067.2:c.1577C>A p.Ser526Ter p.S526* ENST00000286067 NM_015652.2 526 tCa/tAa 0 Nonsense_Mutation C 29 C10orf12 SNP 10 C A 98732714 98732714 Baylor FAM188A 80013 hgsc.bcm.edu GRCh37 10 15876568 15876568 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000277632.3:c.624G>A p.Leu208= p.L208= ENST00000277632 NM_024948.2 208 ttG/ttA 0 Silent C 29 FAM188A SNP 10 C T 15916574 15916574 Baylor C9orf171 389799 hgsc.bcm.edu GRCh37 9 135374837 135374837 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000343036.2:c.482G>A p.Arg161His p.R161H ENST00000343036 NM_207417.1 161 cGc/cAc 0 Missense_Mutation G 38 C9orf171 SNP 9 G A 134364658 134364658 Baylor CASP8AP2 9994 hgsc.bcm.edu GRCh37 6 90572022 90572022 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000551025.1:n.2031G>A *677* ENST00000551025 0 Silent G 47 CASP8AP2 SNP 6 G A 90628743 90628743 Baylor CD163 9332 hgsc.bcm.edu GRCh37 12 7636010 7636010 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000359156.4:c.3041G>A p.Gly1014Asp p.G1014D ENST00000359156 NM_004244.5 1014 gGc/gAc 0 Missense_Mutation C 26 CD163 SNP 12 C T 7527277 7527277 Baylor CLCN4 1183 hgsc.bcm.edu GRCh37 X 10166092 10166092 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380833.4:c.546C>A p.Gly182= p.G182= ENST00000380833 NM_001830.3 182 ggC/ggA 0 Silent C 25 CLCN4 SNP 23 C A 10126092 10126092 Baylor CLP1 10978 hgsc.bcm.edu GRCh37 11 57427143 57427143 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000533682.1:c.195T>A p.Val65= p.V65= ENST00000533682 65 gtT/gtA 0 Silent T 64 CLP1 SNP 11 T A 57183719 57183719 Baylor CNTNAP4 85445 hgsc.bcm.edu GRCh37 16 76513417 76513417 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000478060.1:c.1645C>T p.Leu549= p.L549= ENST00000478060 NM_138994.3 549 Cta/Tta 0 Silent C 32 CNTNAP4 SNP 16 C T 75070918 75070918 Baylor COPB1 1315 hgsc.bcm.edu GRCh37 11 14498516 14498516 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000249923.3:c.1404C>G p.Thr468= p.T468= ENST00000249923 NM_016451.4 468 acC/acG 0 Silent G 47 COPB1 SNP 11 G C 14455092 14455092 Baylor CPA5 93979 hgsc.bcm.edu GRCh37 7 129989834 129989834 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000485477.1:c.217C>T p.Pro73Ser p.P73S ENST00000485477 73 Cca/Tca 0 Missense_Mutation C 22 CPA5 SNP 7 C T 129777070 129777070 Baylor DAXX 1616 hgsc.bcm.edu GRCh37 6 33287496 33287496 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374542.5:c.1601C>A p.Ser534Ter p.S534* ENST00000374542 NM_001141970.1 534 tCa/tAa 0 Nonsense_Mutation G 45 DAXX SNP 6 G T 33395474 33395474 Baylor DDO 8528 hgsc.bcm.edu GRCh37 6 110714241 110714241 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368924.3:c.847del p.Leu283PhefsTer23 p.L283Ffs*23 ENST00000368924 NM_003649.2 283 Ctt/tt 0 Frame_Shift_Del G 33 DDO DEL 6 G - 110820934 110820934 Baylor DDO 8528 hgsc.bcm.edu GRCh37 6 110714543 110714543 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368924.3:c.545T>G p.Ile182Arg p.I182R ENST00000368924 NM_003649.2 182 aTa/aGa 0 Missense_Mutation A 16 DDO SNP 6 A C 110821236 110821236 Baylor DDOST 1650 hgsc.bcm.edu GRCh37 1 20980730 20980730 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375048.3:c.831G>A p.Ala277= p.A277= ENST00000375048 NM_005216.4 277 gcG/gcA 0 Silent C 27 DDOST SNP 1 C T 20853317 20853317 Baylor DNMT3A 1788 hgsc.bcm.edu GRCh37 2 25464500 25464500 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264709.3:c.2013G>C p.Thr671= p.T671= ENST00000264709 NM_175629.2 671 acG/acC 0 Silent C 23 DNMT3A SNP 2 C G 25318004 25318004 Baylor DPY19L3 147991 hgsc.bcm.edu GRCh37 19 32945861 32945861 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000342179.5:c.1004G>A p.Gly335Glu p.G335E ENST00000342179 NM_207325.2 335 gGa/gAa 0 Missense_Mutation G 41 DPY19L3 SNP 19 G A 37637701 37637701 Baylor MECOM 2122 hgsc.bcm.edu GRCh37 3 168819924 168819924 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264674.3:c.2326A>G p.Met776Val p.M776V ENST00000264674 NM_001105077.3 776 Atg/Gtg 0 Missense_Mutation T 49 MECOM SNP 3 T C 170302618 170302618 Baylor FAM163A 148753 hgsc.bcm.edu GRCh37 1 179782938 179782938 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000341785.4:c.118A>G p.Thr40Ala p.T40A ENST00000341785 NM_173509.2 40 Acc/Gcc 0 Missense_Mutation A 2 FAM163A SNP 1 A G 178049561 178049561 Baylor FCHSD2 9873 hgsc.bcm.edu GRCh37 11 72712057 72712057 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000409418.4:c.365del p.Leu122Ter p.L122* ENST00000409418 NM_014824.2 122 tTa/ta 0 Frame_Shift_Del A 13 FCHSD2 DEL 11 A - 72389705 72389705 Baylor FRMD4B 23150 hgsc.bcm.edu GRCh37 3 69267495 69267495 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000398540.3:c.767G>T p.Gly256Val p.G256V ENST00000398540 NM_015123.1 256 gGt/gTt 0 Missense_Mutation C 18 FRMD4B SNP 3 C A 69350185 69350185 Baylor GALNT14 79623 hgsc.bcm.edu GRCh37 2 31154991 31154991 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000324589.5:c.1016T>G p.Val339Gly p.V339G ENST00000324589 NM_001253826.1 339 gTc/gGc 0 Missense_Mutation A 10 GALNT14 SNP 2 A C 31008495 31008495 Baylor GRB2 2885 hgsc.bcm.edu GRCh37 17 73316548 73316548 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000392562.1:c.555C>T p.Val185= p.V185= ENST00000392562 185 gtC/gtT 0 Silent G 45 GRB2 SNP 17 G A 70828143 70828143 Baylor ITPR2 3709 hgsc.bcm.edu GRCh37 12 26835542 26835542 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000381340.3:c.1213A>G p.Ile405Val p.I405V ENST00000381340 NM_002223.2 405 Ata/Gta 0 Missense_Mutation T 51 ITPR2 SNP 12 T C 26726809 26726809 Baylor JARID2 3720 hgsc.bcm.edu GRCh37 6 15497126 15497126 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000341776.2:c.1670T>G p.Ile557Ser p.I557S ENST00000341776 NM_004973.3 557 aTc/aGc 0 Missense_Mutation T 50 JARID2 SNP 6 T G 15605105 15605105 Baylor JARID2 3720 hgsc.bcm.edu GRCh37 6 15497130 15497130 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000341776.2:c.1674C>A p.Pro558= p.P558= ENST00000341776 NM_004973.3 558 ccC/ccA 0 Silent C 23 JARID2 SNP 6 C A 15605109 15605109 Baylor KALRN 8997 hgsc.bcm.edu GRCh37 3 124209720 124209720 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000240874.3:c.4570A>G p.Asn1524Asp p.N1524D ENST00000240874 NM_003947.4 1524 Aac/Gac 0 Missense_Mutation A 9 KALRN SNP 3 A G 125692410 125692410 Baylor KCMF1 56888 hgsc.bcm.edu GRCh37 2 85280388 85280388 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000409785.4:c.1002del p.Ser335ProfsTer19 p.S335Pfs*19 ENST00000409785 NM_020122.4 334 tcA/tc 0 Frame_Shift_Del A 8 KCMF1 DEL 2 A - 85133899 85133899 Baylor KCNC4 3749 hgsc.bcm.edu GRCh37 1 110765612 110765612 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369787.3:c.705C>A p.Phe235Leu p.F235L ENST00000369787 NM_004978.4 235 ttC/ttA 0 Missense_Mutation C 29 KCNC4 SNP 1 C A 110567135 110567135 Baylor KHNYN 23351 hgsc.bcm.edu GRCh37 14 24906241 24906241 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000251343.5:c.1788-1G>T p.X596_splice ENST00000251343 0 Splice_Site_SNP G 35 KHNYN SNP 14 G T 23976081 23976081 Baylor CCSER1 401145 hgsc.bcm.edu GRCh37 4 91321222 91321222 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000509176.1:c.1545T>A p.Asp515Glu p.D515E ENST00000509176 NM_001145065.1 515 gaT/gaA 0 Missense_Mutation T 51 FAM190A SNP 4 T A 91540245 91540245 Baylor KLHL22 84861 hgsc.bcm.edu GRCh37 22 20800918 20800918 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328879.4:c.1351A>G p.Thr451Ala p.T451A ENST00000328879 NM_032775.3 451 Acc/Gcc 0 Missense_Mutation T 59 KLHL22 SNP 22 T C 19130918 19130918 Baylor KLHL29 114818 hgsc.bcm.edu GRCh37 2 23926096 23926097 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000486442.1:c.2147dup p.Pro717AlafsTer51 p.P717Afs*51 ENST00000486442 NM_052920.1 716 ctg/cTtg 0 Frame_Shift_Ins - 32 KLHL29 INS 2 - T 23779601 23779600 Baylor KLK7 5650 hgsc.bcm.edu GRCh37 19 51480921 51480921 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000391807.1:c.633C>A p.Cys211Ter p.C211* ENST00000391807 NM_139277.2 211 tgC/tgA 0 Nonsense_Mutation G 46 KLK7 SNP 19 G T 56172733 56172733 Baylor LAMA3 3909 hgsc.bcm.edu GRCh37 18 21327948 21327948 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000313654.9:c.489T>G p.Ser163= p.S163= ENST00000313654 NM_198129.1 163 tcT/tcG 0 Silent T 54 LAMA3 SNP 18 T G 19581946 19581946 Baylor LAMA4 3910 hgsc.bcm.edu GRCh37 6 112462025 112462025 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000230538.7:c.2913T>C p.Ser971= p.S971= ENST00000230538 NM_001105206.2 971 tcT/tcC 0 Silent A 11 LAMA4 SNP 6 A G 112568718 112568718 Baylor LCA5L 150082 hgsc.bcm.edu GRCh37 21 40792723 40792723 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358268.2:c.884A>G p.Gln295Arg p.Q295R ENST00000358268 295 cAg/cGg 0 Missense_Mutation T 55 LCA5L SNP 21 T C 39714593 39714593 Baylor MAGEL2 54551 hgsc.bcm.edu GRCh37 15 23889721 23889721 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000532292.1:c.1360G>A p.Glu454Lys p.E454K ENST00000532292 NM_019066.4 454 Gag/Aag 0 Missense_Mutation C 29 MAGEL2 SNP 15 C T 21440814 21440814 Baylor MDGA2 161357 hgsc.bcm.edu GRCh37 14 47530616 47530616 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000426342.1:c.467G>A p.Arg156Gln p.R156Q ENST00000426342 NM_182830.4 156 cGg/cAg 0 Missense_Mutation C 23 MDGA2 SNP 14 C T 46600366 46600366 Baylor MED29 55588 hgsc.bcm.edu GRCh37 19 39888108 39888108 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000315588.5:c.435T>C p.His145= p.H145= ENST00000315588 NM_017592.1 145 caT/caC 0 Silent T 51 MED29 SNP 19 T C 44579948 44579948 Baylor MTCH2 23788 hgsc.bcm.edu GRCh37 11 47660287 47660287 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302503.3:c.243A>G p.Gly81= p.G81= ENST00000302503 NM_014342.3 81 ggA/ggG 0 Silent T 54 MTCH2 SNP 11 T C 47616863 47616863 Baylor MYO1A 4640 hgsc.bcm.edu GRCh37 12 57431359 57431359 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000442789.2:c.2028A>T p.Thr676= p.T676= ENST00000442789 NM_001256041.1 676 acA/acT 0 Silent T 63 MYO1A SNP 12 T A 55717626 55717626 Baylor NCOA1 8648 hgsc.bcm.edu GRCh37 2 24928072 24928072 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000406961.1:c.1067C>T p.Pro356Leu p.P356L ENST00000406961 356 cCt/cTt 0 Missense_Mutation C 24 NCOA1 SNP 2 C T 24781576 24781576 Baylor PBRM1 55193 hgsc.bcm.edu GRCh37 3 52692281 52692281 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000394830.3:c.579A>C p.Ile193= p.I193= ENST00000394830 NM_018313.4 193 atA/atC 0 Silent T 53 PBRM1 SNP 3 T G 52667321 52667321 Baylor PCDHAC1 56135 hgsc.bcm.edu GRCh37 5 140306534 140306534 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000253807.2:c.57G>A p.Ala19= p.A19= ENST00000253807 NM_018898.3 19 gcG/gcA 0 Silent G 39 PCDHAC1 SNP 5 G A 140286718 140286718 Baylor PCGF1 84759 hgsc.bcm.edu GRCh37 2 74732316 74732316 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000233630.6:c.734C>T p.Pro245Leu p.P245L ENST00000233630 NM_032673.2 245 cCa/cTa 0 Missense_Mutation G 47 PCGF1 SNP 2 G A 74585824 74585824 Baylor PDE4A 5141 hgsc.bcm.edu GRCh37 19 10572644 10572644 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000352831.6:c.1712T>A p.Leu571His p.L571H ENST00000352831 NM_001111307.1 571 cTc/cAc 0 Missense_Mutation T 54 PDE4A SNP 19 T A 10433644 10433644 Baylor PDIA4 9601 hgsc.bcm.edu GRCh37 7 148716180 148716180 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000286091.4:c.379G>A p.Val127Met p.V127M ENST00000286091 NM_004911.4 127 Gtg/Atg 0 Missense_Mutation C 17 PDIA4 SNP 7 C T 148347113 148347113 Baylor PHACTR1 221692 hgsc.bcm.edu GRCh37 6 13228205 13228205 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000332995.7:c.1144G>C p.Glu382Gln p.E382Q ENST00000332995 382 Gag/Cag 0 Missense_Mutation G 45 PHACTR1 SNP 6 G C 13336184 13336184 Baylor PIGT 51604 hgsc.bcm.edu GRCh37 20 44054403 44054403 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000279036.6:c.1674A>C p.Thr558= p.T558= ENST00000279036 NM_015937.5 558 acA/acC 0 Silent A 7 PIGT SNP 20 A C 43487817 43487817 Baylor PKIA 5569 hgsc.bcm.edu GRCh37 8 79510670 79510670 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000396418.2:c.51A>C p.Thr17= p.T17= ENST00000396418 NM_006823.3 17 acA/acC 0 Silent A 7 PKIA SNP 8 A C 79673225 79673225 Baylor PPOX 5498 hgsc.bcm.edu GRCh37 1 161137880 161137880 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367999.4:c.434C>T p.Thr145Ile p.T145I ENST00000367999 NM_001122764.1 145 aCt/aTt 0 Missense_Mutation C 20 PPOX SNP 1 C T 159404504 159404504 Baylor PSD3 23362 hgsc.bcm.edu GRCh37 8 18430097 18430097 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000327040.8:c.2725G>A p.Gly909Ser p.G909S ENST00000327040 NM_015310.3 909 Ggc/Agc 0 Missense_Mutation C 23 PSD3 SNP 8 C T 18474377 18474377 Baylor QRICH1 54870 hgsc.bcm.edu GRCh37 3 49095139 49095139 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395443.2:c.494A>T p.Gln165Leu p.Q165L ENST00000395443 NM_198880.1 165 cAa/cTa 0 Missense_Mutation T 63 QRICH1 SNP 3 T A 49070143 49070143 Baylor SIK3 23387 hgsc.bcm.edu GRCh37 11 116730109 116730109 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000292055.4:c.2319C>T p.Arg773= p.R773= ENST00000292055 NM_025164.3 773 cgC/cgT 0 Silent G 38 SIK3 SNP 11 G A 116235319 116235319 Baylor QSOX2 169714 hgsc.bcm.edu GRCh37 9 139100845 139100845 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358701.5:c.1826T>G p.Val609Gly p.V609G ENST00000358701 NM_181701.3 609 gTc/gGc 0 Missense_Mutation A 10 QSOX2 SNP 9 A C 138240666 138240666 Baylor RBM12B 389677 hgsc.bcm.edu GRCh37 8 94746629 94746629 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399300.2:c.2010A>C p.Pro670= p.P670= ENST00000399300 NM_203390.2 670 ccA/ccC 0 Silent T 59 RBM12B SNP 8 T G 94815805 94815805 Baylor RRAD 6236 hgsc.bcm.edu GRCh37 16 66956063 66956063 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000299759.6:c.843C>A p.Phe281Leu p.F281L ENST00000299759 281 ttC/ttA 0 Missense_Mutation G 33 RRAD SNP 16 G T 65513564 65513564 Baylor RTN2 6253 hgsc.bcm.edu GRCh37 19 45992156 45992156 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000245923.4:c.1330A>G p.Thr444Ala p.T444A ENST00000245923 NM_005619.4 444 Acg/Gcg 0 Missense_Mutation T 59 RTN2 SNP 19 T C 50683996 50683996 Baylor RUSC1 23623 hgsc.bcm.edu GRCh37 1 155295397 155295397 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368352.5:c.1748T>G p.Val583Gly p.V583G ENST00000368352 NM_001105203.1 583 gTc/gGc 0 Missense_Mutation T 58 RUSC1 SNP 1 T G 153562021 153562021 Baylor SGSM3 27352 hgsc.bcm.edu GRCh37 22 40801654 40801654 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000248929.9:c.620T>C p.Val207Ala p.V207A ENST00000248929 NM_015705.4 207 gTg/gCg 0 Missense_Mutation T 59 SGSM3 SNP 22 T C 39131600 39131600 Baylor SH3D19 152503 hgsc.bcm.edu GRCh37 4 152086772 152086772 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000304527.4:c.771T>G p.Thr257= p.T257= ENST00000304527 NM_001009555.3 257 acT/acG 0 Silent A 7 SH3D19 SNP 4 A C 152306222 152306222 Baylor SLC1A6 6511 hgsc.bcm.edu GRCh37 19 15075168 15075168 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000221742.3:c.554T>G p.Met185Arg p.M185R ENST00000221742 NM_005071.2 185 aTg/aGg 0 Missense_Mutation A 8 SLC1A6 SNP 19 A C 14936168 14936168 Baylor SMC1B 27127 hgsc.bcm.edu GRCh37 22 45798220 45798220 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357450.4:c.847G>C p.Glu283Gln p.E283Q ENST00000357450 NM_148674.3 283 Gaa/Caa 0 Missense_Mutation C 32 SMC1B SNP 22 C G 44176884 44176884 Baylor SMG6 23293 hgsc.bcm.edu GRCh37 17 2203200 2203200 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263073.6:c.847C>T p.Gln283Ter p.Q283* ENST00000263073 NM_017575.4 283 Cag/Tag 0 Nonsense_Mutation G 48 SMG6 SNP 17 G A 2149950 2149950 Baylor SND1 27044 hgsc.bcm.edu GRCh37 7 127727067 127727067 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354725.3:c.2382G>C p.Thr794= p.T794= ENST00000354725 NM_014390.2 794 acG/acC 0 Silent G 39 SND1 SNP 7 G C 127514303 127514303 Baylor STARD8 9754 hgsc.bcm.edu GRCh37 X 67937888 67937888 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374599.3:c.1132G>A p.Asp378Asn p.D378N ENST00000374599 NM_001142503.2 378 Gat/Aat 0 Missense_Mutation G 45 STARD8 SNP 23 G A 67854613 67854613 Baylor TEX14 56155 hgsc.bcm.edu GRCh37 17 56699029 56699029 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000240361.8:c.536G>A p.Cys179Tyr p.C179Y ENST00000240361 179 tGt/tAt 0 Missense_Mutation C 17 TEX14 SNP 17 C T 54054028 54054028 Baylor TGM2 7052 hgsc.bcm.edu GRCh37 20 36760817 36760817 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361475.2:c.1701C>G p.Leu567= p.L567= ENST00000361475 NM_004613.2 567 ctC/ctG 0 Silent G 37 TGM2 SNP 20 G C 36194231 36194231 Baylor THSD1 55901 hgsc.bcm.edu GRCh37 13 52971791 52971791 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000258613.4:c.597T>A p.Gly199= p.G199= ENST00000258613 NM_018676.3 199 ggT/ggA 0 Silent A 10 THSD1 SNP 13 A T 51869792 51869792 Baylor TIPARP 25976 hgsc.bcm.edu GRCh37 3 156396019 156396030 + inframe_deletion In_Frame_Del DEL TAGACAAAGTCA TAGACAAAGTCA - novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 TAGACAAAGTCA TAGACAAAGTCA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000461166.1:c.537_548del p.Lys180_Asp183del p.K180_D183del ENST00000461166 NM_001184717.1 178 tTAGACAAAGTCAta/tta 0 In_Frame_Del TAGACAAAGTCA 61 TIPARP DEL 3 TAGACAAAGTCA - 157878724 157878713 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7579317 7579317 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269305.4:c.370delT p.Cys124AlafsTer46 p.C124Afs*46 ENST00000269305 NM_001126112.2 124 Tgc/gc 0 Frame_Shift_Del A 5 TP53 DEL 17 A - 7520042 7520042 Baylor TRAF1 7185 hgsc.bcm.edu GRCh37 9 123673704 123673704 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373887.3:c.793T>G p.Phe265Val p.F265V ENST00000373887 NM_005658.4 265 Ttc/Gtc 0 Missense_Mutation A 3 TRAF1 SNP 9 A C 122713525 122713525 Baylor TRIM31 11074 hgsc.bcm.edu GRCh37 6 30080570 30080570 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000376734.3:c.13C>A p.Gln5Lys p.Q5K ENST00000376734 NM_007028.3 5 Cag/Aag 0 Missense_Mutation G 46 TRIM31 SNP 6 G T 30188549 30188549 Baylor TRIM71 131405 hgsc.bcm.edu GRCh37 3 32932169 32932169 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000383763.5:c.1473C>T p.Gly491= p.G491= ENST00000383763 NM_001039111.1 491 ggC/ggT 0 Silent C 27 TRIM71 SNP 3 C T 32907173 32907173 Baylor TROVE2 6738 hgsc.bcm.edu GRCh37 1 193050603 193050603 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367446.3:c.1196T>C p.Met399Thr p.M399T ENST00000367446 NM_004600.5 399 aTg/aCg 0 Missense_Mutation T 51 TROVE2 SNP 1 T C 191317226 191317226 Baylor XPO7 23039 hgsc.bcm.edu GRCh37 8 21856607 21856607 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000252512.9:c.2434C>T p.Arg812Cys p.R812C ENST00000252512 NM_015024.4 812 Cgc/Tgc 0 Missense_Mutation C 31 XPO7 SNP 8 C T 21912553 21912553 Baylor ZFP57 346171 hgsc.bcm.edu GRCh37 6 29640709 29640709 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000488757.1:c.1179T>C p.Phe393= p.F393= ENST00000488757 NM_001109809.2 393 ttT/ttC 0 Silent A 13 ZFP57 SNP 6 A G 29748688 29748688 Baylor ZSCAN31 64288 hgsc.bcm.edu GRCh37 6 28294632 28294632 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000414429.1:c.533-1G>A p.X178_splice ENST00000414429 0 Splice_Site_SNP C 32 ZNF323 SNP 6 C T 28402611 28402611 Baylor ZNF592 9640 hgsc.bcm.edu GRCh37 15 85342375 85342375 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0793-01 TCGA-13-0793-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000299927.3:c.3071C>A p.Thr1024Asn p.T1024N ENST00000299927 1024 aCc/aAc 0 Missense_Mutation C 18 ZNF592 SNP 15 C A 83143379 83143379 Baylor ABCB4 5244 hgsc.bcm.edu GRCh37 7 87056076 87056076 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000265723.4:c.2054C>G p.Thr685Ser p.T685S ENST00000265723 NM_000443.3 685 aCc/aGc 0 Missense_Mutation G 44 ABCB4 SNP 7 G C 86894012 86894012 Baylor ACVR2B 93 hgsc.bcm.edu GRCh37 3 38520697 38520697 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000352511.4:c.745G>C p.Ala249Pro p.A249P ENST00000352511 NM_001106.3 249 Gct/Cct 0 Missense_Mutation G 46 ACVR2B SNP 3 G C 38495701 38495701 Baylor ADAM30 11085 hgsc.bcm.edu GRCh37 1 120437576 120437576 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369400.1:c.1384A>G p.Asn462Asp p.N462D ENST00000369400 NM_021794.3 462 Aat/Gat 0 Missense_Mutation T 64 ADAM30 SNP 1 T C 120239099 120239099 Baylor ADAMTS14 140766 hgsc.bcm.edu GRCh37 10 72500808 72500808 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373208.1:c.1823A>T p.Glu608Val p.E608V ENST00000373208 NM_139155.2 608 gAg/gTg 0 Missense_Mutation A 11 ADAMTS14 SNP 10 A T 72170814 72170814 Baylor ADAMTS16 170690 hgsc.bcm.edu GRCh37 5 5318277 5318277 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000274181.7:c.3442A>G p.Thr1148Ala p.T1148A ENST00000274181 NM_139056.2 1148 Acg/Gcg 0 Missense_Mutation A 10 ADAMTS16 SNP 5 A G 5371277 5371277 Baylor ADORA3 140 hgsc.bcm.edu GRCh37 1 112033360 112033360 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369716.4:c.375G>A p.Gly125= p.G125= ENST00000369716 NM_020683.6 125 ggG/ggA 0 Silent C 18 ADORA3 SNP 1 C T 111834883 111834883 Baylor AGPAT4 56895 hgsc.bcm.edu GRCh37 6 161557634 161557634 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000320285.4:c.1075A>T p.Thr359Ser p.T359S ENST00000320285 NM_020133.2 359 Acg/Tcg 0 Missense_Mutation T 58 AGPAT4 SNP 6 T A 161477624 161477624 Baylor AHCYL1 10768 hgsc.bcm.edu GRCh37 1 110560608 110560608 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369799.5:c.1093C>T p.Arg365Trp p.R365W ENST00000369799 NM_001242674.1 365 Cgg/Tgg 0 Missense_Mutation C 23 AHCYL1 SNP 1 C T 110362131 110362131 Baylor ANKRD17 26057 hgsc.bcm.edu GRCh37 4 73956580 73956580 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000358602.4:c.6765C>G p.Ser2255Arg p.S2255R ENST00000358602 NM_032217.3 2255 agC/agG 0 Missense_Mutation G 46 ANKRD17 SNP 4 G C 74175444 74175444 Baylor ARHGAP30 257106 hgsc.bcm.edu GRCh37 1 161023074 161023074 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368013.3:c.638A>G p.Gln213Arg p.Q213R ENST00000368013 NM_181720.2 213 cAg/cGg 0 Missense_Mutation T 55 ARHGAP30 SNP 1 T C 159289698 159289698 Baylor ATG9B 285973 hgsc.bcm.edu GRCh37 7 150720191 150720191 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377974.2:c.762G>T p.Pro254= p.P254= ENST00000377974 254 ccG/ccT 0 Silent C 19 ATG9B SNP 7 C A 150351124 150351124 Baylor ATG9B 285973 hgsc.bcm.edu GRCh37 7 150720196 150720196 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377974.2:c.757G>T p.Gly253Trp p.G253W ENST00000377974 253 Ggg/Tgg 0 Missense_Mutation C 21 ATG9B SNP 7 C A 150351129 150351129 Baylor BAIAP2L1 55971 hgsc.bcm.edu GRCh37 7 97949378 97949378 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000005260.8:c.340T>C p.Tyr114His p.Y114H ENST00000005260 NM_018842.4 114 Tat/Cat 0 Missense_Mutation A 16 BAIAP2L1 SNP 7 A G 97787314 97787314 Baylor BCL7A 605 hgsc.bcm.edu GRCh37 12 122492854 122492854 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000538010.1:c.583A>C p.Arg195= p.R195= ENST00000538010 NM_020993.3 195 Agg/Cgg 0 Silent A 11 BCL7A SNP 12 A C 120977237 120977237 Baylor BICC1 80114 hgsc.bcm.edu GRCh37 10 60549146 60549146 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373886.3:c.725A>C p.Lys242Thr p.K242T ENST00000373886 NM_001080512.1 242 aAa/aCa 0 Missense_Mutation A 1 BICC1 SNP 10 A C 60219152 60219152 Baylor C19orf44 84167 hgsc.bcm.edu GRCh37 19 16620615 16620615 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000221671.3:c.1455C>T p.Ala485= p.A485= ENST00000221671 NM_032207.2 485 gcC/gcT 0 Silent C 22 C19orf44 SNP 19 C T 16481615 16481615 Baylor C1orf95 375057 hgsc.bcm.edu GRCh37 1 226736749 226736749 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000366788.3:c.144C>G p.Tyr48Ter p.Y48* ENST00000366788 NM_001003665.3 48 taC/taG 0 Nonsense_Mutation C 17 C1orf95 SNP 1 C G 224803372 224803372 Baylor C5orf20 140947 hgsc.bcm.edu GRCh37 5 134782481 134782481 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000503143.2:c.318C>G p.Pro106= p.P106= ENST00000503143 NM_130848.2 106 ccC/ccG 0 Silent G 35 C5orf20 SNP 5 G C 134810380 134810380 Baylor C6 729 hgsc.bcm.edu GRCh37 5 41154096 41154096 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263413.3:c.2106G>A p.Thr702= p.T702= ENST00000263413 NM_001115131.2 702 acG/acA 0 Silent C 23 C6 SNP 5 C T 41189853 41189853 Baylor CADM3 57863 hgsc.bcm.edu GRCh37 1 159169647 159169647 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368124.4:c.1161C>A p.His387Gln p.H387Q ENST00000368124 NM_021189.3 387 caC/caA 0 Missense_Mutation C 20 CADM3 SNP 1 C A 157436271 157436271 Baylor CCDC67 159989 hgsc.bcm.edu GRCh37 11 93103253 93103253 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000298050.3:c.447G>A p.Lys149= p.K149= ENST00000298050 NM_181645.3 149 aaG/aaA 0 Silent G 36 CCDC67 SNP 11 G A 92742901 92742901 Baylor CIDEC 63924 hgsc.bcm.edu GRCh37 3 9911605 9911605 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000430427.1:c.545C>G p.Ser182Cys p.S182C ENST00000430427 NM_001199551.1 182 tCc/tGc 0 Missense_Mutation G 41 CIDEC SNP 3 G C 9886605 9886605 Baylor CIT 11113 hgsc.bcm.edu GRCh37 12 120198851 120198851 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000392521.2:c.2313C>G p.Asp771Glu p.D771E ENST00000392521 NM_001206999.1 771 gaC/gaG 0 Missense_Mutation G 48 CIT SNP 12 G C 118683234 118683234 Baylor CLCA4 22802 hgsc.bcm.edu GRCh37 1 87036838 87036838 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370563.3:c.1261T>A p.Ser421Thr p.S421T ENST00000370563 NM_012128.3 421 Tct/Act 0 Missense_Mutation T 62 CLCA4 SNP 1 T A 86809426 86809426 Baylor CNGA1 1259 hgsc.bcm.edu GRCh37 4 47945300 47945300 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000402813.3:c.554C>G p.Ser185Ter p.S185* ENST00000402813 185 tCa/tGa 0 Nonsense_Mutation G 45 CNGA1 SNP 4 G C 47640057 47640057 Baylor CNPY3 10695 hgsc.bcm.edu GRCh37 6 42905541 42905541 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372836.4:c.459C>T p.Asn153= p.N153= ENST00000372836 NM_006586.3 153 aaC/aaT 0 Silent C 19 CNPY3 SNP 6 C T 43013519 43013519 Baylor COL13A1 1305 hgsc.bcm.edu GRCh37 10 71562471 71562471 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000398978.3:c.292G>A p.Glu98Lys p.E98K ENST00000398978 NM_001130103.1 98 Gag/Aag 0 Missense_Mutation G 37 COL13A1 SNP 10 G A 71232477 71232477 Baylor CORO2B 10391 hgsc.bcm.edu GRCh37 15 69011494 69011494 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000566799.1:c.1092C>A p.Tyr364Ter p.Y364* ENST00000566799 364 taC/taA 0 Nonsense_Mutation C 18 CORO2B SNP 15 C A 66798548 66798548 Baylor CSMD3 114788 hgsc.bcm.edu GRCh37 8 113702186 113702186 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000297405.5:c.2066A>T p.Glu689Val p.E689V ENST00000297405 NM_198123.1 689 gAa/gTa 0 Missense_Mutation T 62 CSMD3 SNP 8 T A 113771362 113771362 Baylor CYC1 1537 hgsc.bcm.edu GRCh37 8 145151526 145151527 + frameshift_variant Frame_Shift_Del DEL CT CT - novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 CT CT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000318911.4:c.651_652del p.Tyr218LeufsTer38 p.Y218Lfs*38 ENST00000318911 NM_001916.3 217 ggCTac/ggac 0 Frame_Shift_Del CT 28 CYC1 DEL 8 CT - 145223515 145223514 Baylor SPECC1 92521 hgsc.bcm.edu GRCh37 17 20107793 20107793 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000261503.5:c.431C>G p.Thr144Arg p.T144R ENST00000261503 NM_001033553.2 144 aCg/aGg 0 Missense_Mutation C 19 CYTSB SNP 17 C G 20048385 20048385 Baylor EXO5 64789 hgsc.bcm.edu GRCh37 1 40981245 40981245 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372703.1:c.1029C>G p.Cys343Trp p.C343W ENST00000372703 343 tgC/tgG 0 Missense_Mutation C 26 DEM1 SNP 1 C G 40753832 40753832 Baylor DHX29 54505 hgsc.bcm.edu GRCh37 5 54592136 54592141 + inframe_deletion In_Frame_Del DEL CTTTGT CTTTGT - novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 CTTTGT CTTTGT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000251636.5:c.412_417del p.Thr138_Lys139del p.T138_K139del ENST00000251636 NM_019030.2 138 ACAAAG/- 0 In_Frame_Del CTTTGT 24 DHX29 DEL 5 CTTTGT - 54627898 54627893 Baylor DLEC1 9940 hgsc.bcm.edu GRCh37 3 38158122 38158122 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000308059.6:c.4035G>A p.Ser1345= p.S1345= ENST00000308059 1345 tcG/tcA 0 Silent G 39 DLEC1 SNP 3 G A 38133126 38133126 Baylor EGFR 1956 hgsc.bcm.edu GRCh37 7 55241677 55241677 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000275493.2:c.2125G>C p.Glu709Gln p.E709Q ENST00000275493 NM_005228.3 709 Gaa/Caa 0 Missense_Mutation G 41 EGFR SNP 7 G C 55209171 55209171 Baylor EIF4A2 1974 hgsc.bcm.edu GRCh37 3 186505322 186505322 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000323963.5:c.948G>C p.Met316Ile p.M316I ENST00000323963 316 atG/atC 0 Missense_Mutation G 45 EIF4A2 SNP 3 G C 187988016 187988016 Baylor EPS15L1 58513 hgsc.bcm.edu GRCh37 19 16552987 16552987 + splice_donor_variant Splice_Site SNP A A G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000455140.2:c.75+2T>C p.X25_splice ENST00000455140 NM_001258374.1 0 Splice_Site_SNP A 14 EPS15L1 SNP 19 A G 16413987 16413987 Baylor FAM47B 170062 hgsc.bcm.edu GRCh37 X 34962068 34962068 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000329357.5:c.1120C>A p.Leu374Ile p.L374I ENST00000329357 NM_152631.2 374 Ctc/Atc 0 Missense_Mutation C 20 FAM47B SNP 23 C A 34871989 34871989 Baylor FBLN5 10516 hgsc.bcm.edu GRCh37 14 92403371 92403371 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000342058.4:c.299C>G p.Ser100Ter p.S100* ENST00000342058 NM_006329.3 100 tCa/tGa 0 Nonsense_Mutation G 45 FBLN5 SNP 14 G C 91473124 91473124 Baylor ARHGEF40 55701 hgsc.bcm.edu GRCh37 14 21544978 21544978 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000298694.4:c.1963C>G p.Pro655Ala p.P655A ENST00000298694 NM_001278529.1 655 Cca/Gca 0 Missense_Mutation C 26 FLJ10357 SNP 14 C G 20614818 20614818 Baylor TMEM150C 441027 hgsc.bcm.edu GRCh37 4 83423918 83423918 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000515780.2:c.197G>A p.Cys66Tyr p.C66Y ENST00000515780 66 tGt/tAt 0 Missense_Mutation C 17 TMEM150C SNP 4 C T 83642942 83642942 Baylor GPR19 2842 hgsc.bcm.edu GRCh37 12 12814170 12814170 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000540510.1:c.1213C>G p.Pro405Ala p.P405A ENST00000540510 405 Ccc/Gcc 0 Missense_Mutation G 42 GPR19 SNP 12 G C 12705437 12705437 Baylor GPRIN3 285513 hgsc.bcm.edu GRCh37 4 90169368 90169368 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000609438.1:c.1894C>G p.Pro632Ala p.P632A ENST00000609438 NM_198281.2 632 Cca/Gca 0 Missense_Mutation G 43 GPRIN3 SNP 4 G C 90388391 90388391 Baylor GPT2 84706 hgsc.bcm.edu GRCh37 16 46931607 46931607 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000340124.4:c.291C>T p.Asp97= p.D97= ENST00000340124 NM_133443.2 97 gaC/gaT 0 Silent C 19 GPT2 SNP 16 C T 45489108 45489108 Baylor GTF3C5 9328 hgsc.bcm.edu GRCh37 9 135917602 135917602 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372108.5:c.282G>A p.Arg94= p.R94= ENST00000372108 NM_001122823.1 94 cgG/cgA 0 Silent G 42 GTF3C5 SNP 9 G A 134907423 134907423 Baylor HAUS8 93323 hgsc.bcm.edu GRCh37 19 17169444 17169444 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000253669.5:c.560del p.Lys187SerfsTer9 p.K187Sfs*9 ENST00000253669 187 aAg/ag 0 Frame_Shift_Del T 56 HAUS8 DEL 19 T - 17030444 17030444 Baylor HMCN1 83872 hgsc.bcm.edu GRCh37 1 186076037 186076037 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000271588.4:c.10792A>T p.Thr3598Ser p.T3598S ENST00000271588 NM_031935.2 3598 Aca/Tca 0 Missense_Mutation A 14 HMCN1 SNP 1 A T 184342660 184342660 Baylor HRG 3273 hgsc.bcm.edu GRCh37 3 186389431 186389431 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000232003.4:c.411T>G p.Asn137Lys p.N137K ENST00000232003 NM_000412.2 137 aaT/aaG 0 Missense_Mutation T 49 HRG SNP 3 T G 187872125 187872125 Baylor HRH1 3269 hgsc.bcm.edu GRCh37 3 11300790 11300790 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000397056.1:c.67G>T p.Ala23Ser p.A23S ENST00000397056 NM_000861.3 23 Gcc/Tcc 0 Missense_Mutation G 42 HRH1 SNP 3 G T 11275790 11275790 Baylor HUS1 3364 hgsc.bcm.edu GRCh37 7 48018046 48018046 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000258774.5:c.325C>A p.His109Asn p.H109N ENST00000258774 NM_004507.3 109 Cac/Aac 0 Missense_Mutation G 48 HUS1 SNP 7 G T 47984571 47984571 Baylor INPP5K 51763 hgsc.bcm.edu GRCh37 17 1401323 1401323 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000421807.2:c.870G>T p.Ala290= p.A290= ENST00000421807 NM_016532.3 290 gcG/gcT 0 Silent C 19 INPP5K SNP 17 C A 1348073 1348073 Baylor IQCF1 132141 hgsc.bcm.edu GRCh37 3 51929103 51929103 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310914.5:c.421C>T p.Arg141Cys p.R141C ENST00000310914 NM_152397.2 141 Cgc/Tgc 0 Missense_Mutation G 39 IQCF1 SNP 3 G A 51904143 51904143 Baylor ITGA2B 3674 hgsc.bcm.edu GRCh37 17 42455065 42455065 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262407.5:c.2187+1G>A p.X729_splice ENST00000262407 NM_000419.3 0 Splice_Site_SNP C 18 ITGA2B SNP 17 C T 39810591 39810591 Baylor ITGA4 3676 hgsc.bcm.edu GRCh37 2 182386920 182386920 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397033.2:c.1925C>A p.Pro642His p.P642H ENST00000397033 NM_000885.4 642 cCc/cAc 0 Missense_Mutation C 22 ITGA4 SNP 2 C A 182095165 182095165 Baylor ITGAL 3683 hgsc.bcm.edu GRCh37 16 30507430 30507430 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356798.6:c.1516G>A p.Glu506Lys p.E506K ENST00000356798 NM_002209.2 506 Gaa/Aaa 0 Missense_Mutation G 33 ITGAL SNP 16 G A 30414931 30414931 Baylor JAKMIP2 9832 hgsc.bcm.edu GRCh37 5 146997488 146997488 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265272.5:c.2332C>T p.Gln778Ter p.Q778* ENST00000265272 NM_014790.4 778 Cag/Tag 0 Nonsense_Mutation G 48 JAKMIP2 SNP 5 G A 146977681 146977681 Baylor JAKMIP2 9832 hgsc.bcm.edu GRCh37 5 147040528 147040528 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265272.5:c.610C>T p.Arg204Trp p.R204W ENST00000265272 NM_014790.4 204 Cgg/Tgg 0 Missense_Mutation G 38 JAKMIP2 SNP 5 G A 147020721 147020721 Baylor KCNH5 27133 hgsc.bcm.edu GRCh37 14 63453857 63453857 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000322893.7:c.482G>T p.Ser161Ile p.S161I ENST00000322893 NM_139318.4 161 aGt/aTt 0 Missense_Mutation C 20 KCNH5 SNP 14 C A 62523610 62523610 Baylor KEL 3792 hgsc.bcm.edu GRCh37 7 142651611 142651611 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355265.2:c.676G>A p.Asp226Asn p.D226N ENST00000355265 NM_000420.2 226 Gac/Aac 0 Missense_Mutation C 32 KEL SNP 7 C T 142361733 142361733 Baylor KIAA1614 57710 hgsc.bcm.edu GRCh37 1 180886093 180886093 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367588.4:c.854G>T p.Gly285Val p.G285V ENST00000367588 NM_020950.1 285 gGc/gTc 0 Missense_Mutation G 42 KIAA1614 SNP 1 G T 179152716 179152716 Baylor KLC3 147700 hgsc.bcm.edu GRCh37 19 45851969 45851969 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000391946.2:c.845C>T p.Thr282Met p.T282M ENST00000391946 NM_177417.2 282 aCg/aTg 0 Missense_Mutation C 19 KLC3 SNP 19 C T 50543809 50543809 Baylor KLHL29 114818 hgsc.bcm.edu GRCh37 2 23926096 23926097 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000486442.1:c.2147dup p.Pro717AlafsTer51 p.P717Afs*51 ENST00000486442 NM_052920.1 716 ctg/cTtg 0 Frame_Shift_Ins - 32 KLHL29 INS 2 - T 23779601 23779600 Baylor KRTCAP2 200185 hgsc.bcm.edu GRCh37 1 155142034 155142034 + missense_variant,splice_region_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295682.4:c.371T>A p.Phe124Tyr p.F124Y ENST00000295682 NM_173852.3 124 tTc/tAc 0 Missense_Mutation A 9 KRTCAP2 SNP 1 A T 153408658 153408658 Baylor LAMA2 3908 hgsc.bcm.edu GRCh37 6 129475728 129475728 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000421865.2:c.1106G>T p.Arg369Leu p.R369L ENST00000421865 NM_001079823.1 369 cGt/cTt 0 Missense_Mutation G 40 LAMA2 SNP 6 G T 129517421 129517421 Baylor LAMC3 10319 hgsc.bcm.edu GRCh37 9 133936424 133936424 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361069.4:c.2161A>G p.Ile721Val p.I721V ENST00000361069 NM_006059.3 721 Atc/Gtc 0 Missense_Mutation A 12 LAMC3 SNP 9 A G 132926245 132926245 Baylor LDHC 3948 hgsc.bcm.edu GRCh37 11 18434376 18434376 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000541669.1:c.112A>C p.Ser38Arg p.S38R ENST00000541669 38 Agt/Cgt 0 Missense_Mutation A 15 LDHC SNP 11 A C 18390952 18390952 Baylor LRRN3 54674 hgsc.bcm.edu GRCh37 7 110763276 110763276 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000451085.1:c.448A>C p.Asn150His p.N150H ENST00000451085 NM_001099660.1 150 Aac/Cac 0 Missense_Mutation A 5 LRRN3 SNP 7 A C 110550512 110550512 Baylor MAP4 4134 hgsc.bcm.edu GRCh37 3 48040304 48040304 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360240.6:c.47A>T p.Asp16Val p.D16V ENST00000360240 NM_002375.4 16 gAc/gTc 0 Missense_Mutation T 58 MAP4 SNP 3 T A 48015308 48015308 Baylor METTL12 751071 hgsc.bcm.edu GRCh37 11 62433355 62433356 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000532971.1:c.6dup p.Ala3ArgfsTer25 p.A3Rfs*25 ENST00000532971 NM_001043229.1 2 gcc/gCcc 0 Frame_Shift_Ins - 42 METTL12 INS 11 - C 62189932 62189931 Baylor MYBPC2 4606 hgsc.bcm.edu GRCh37 19 50961918 50961919 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357701.5:c.2415dup p.Arg806GlnfsTer154 p.R806Qfs*154 ENST00000357701 NM_004533.3 805 gcc/gCcc 0 Frame_Shift_Ins - 34 MYBPC2 INS 19 - C 55653731 55653730 Baylor NEU1 4758 hgsc.bcm.edu GRCh37 6 31827960 31827960 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000375631.4:c.880C>T p.Arg294Cys p.R294C ENST00000375631 NM_000434.3 294 Cgc/Tgc 0 Missense_Mutation G 39 NEU1 SNP 6 G A 31935939 31935939 Baylor NFKBID 84807 hgsc.bcm.edu GRCh37 19 36381371 36381371 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000396901.1:c.628G>C p.Val210Leu p.V210L ENST00000396901 NM_139239.1 210 Gtt/Ctt 0 Missense_Mutation C 20 NFKBID SNP 19 C G 41073211 41073211 Baylor NHS 4810 hgsc.bcm.edu GRCh37 X 17743957 17743957 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380060.3:c.1668T>G p.Ser556Arg p.S556R ENST00000380060 NM_198270.2 556 agT/agG 0 Missense_Mutation T 59 NHS SNP 23 T G 17653878 17653878 Baylor NKX6-3 157848 hgsc.bcm.edu GRCh37 8 41504719 41504719 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000524115.2:c.156T>G p.Ala52= p.A52= ENST00000524115 NM_152568.2 52 gcT/gcG 0 Silent A 3 NKX6-3 SNP 8 A C 41623876 41623876 Baylor NOTCH2 4853 hgsc.bcm.edu GRCh37 1 120493457 120493457 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000256646.2:c.2369A>G p.Tyr790Cys p.Y790C ENST00000256646 NM_024408.3 790 tAt/tGt 0 Missense_Mutation T 49 NOTCH2 SNP 1 T C 120294980 120294980 Baylor NPR3 4883 hgsc.bcm.edu GRCh37 5 32784951 32784951 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265074.8:c.1476A>T p.Leu492Phe p.L492F ENST00000265074 NM_001204375.1 492 ttA/ttT 0 Missense_Mutation A 14 NPR3 SNP 5 A T 32820708 32820708 Baylor NRAP 4892 hgsc.bcm.edu GRCh37 10 115402786 115402786 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000359988.3:c.1122G>C p.Lys374Asn p.K374N ENST00000359988 NM_001261463.1 374 aaG/aaC 0 Missense_Mutation C 32 NRAP SNP 10 C G 115392776 115392776 Baylor NXF3 56000 hgsc.bcm.edu GRCh37 X 102338570 102338570 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395065.3:c.402G>C p.Gln134His p.Q134H ENST00000395065 NM_022052.1 134 caG/caC 0 Missense_Mutation C 32 NXF3 SNP 23 C G 102225226 102225226 Baylor OR5M9 390162 hgsc.bcm.edu GRCh37 11 56230141 56230141 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000279791.1:c.737T>A p.Val246Asp p.V246D ENST00000279791 NM_001004743.1 246 gTt/gAt 0 Missense_Mutation A 2 OR5M9 SNP 11 A T 55986717 55986717 Baylor P2RY13 53829 hgsc.bcm.edu GRCh37 3 151046368 151046368 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000325602.5:c.476T>G p.Phe159Cys p.F159C ENST00000325602 NM_176894.2 159 tTt/tGt 0 Missense_Mutation A 1 P2RY13 SNP 3 A C 152529058 152529058 Baylor PFDN5 5204 hgsc.bcm.edu GRCh37 12 53690060 53690060 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000551018.1:c.207+1G>C p.X69_splice ENST00000551018 NM_002624.3 0 Splice_Site_SNP G 48 PFDN5 SNP 12 G C 51976327 51976327 Baylor PIK3C2G 5288 hgsc.bcm.edu GRCh37 12 18641506 18641506 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000266497.5:c.2505C>A p.Ile835= p.I835= ENST00000266497 835 atC/atA 0 Silent C 29 PIK3C2G SNP 12 C A 18532773 18532773 Baylor PKP1 5317 hgsc.bcm.edu GRCh37 1 201291239 201291239 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263946.3:c.1544G>A p.Ser515Asn p.S515N ENST00000263946 NM_000299.3 515 aGc/aAc 0 Missense_Mutation G 34 PKP1 SNP 1 G A 199557862 199557862 Baylor PLA2G15 23659 hgsc.bcm.edu GRCh37 16 68293421 68293422 + frameshift_variant Frame_Shift_Del DEL GT GT - novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 GT GT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000219345.5:c.1101_1102del p.Ala368ProfsTer87 p.A368Pfs*87 ENST00000219345 NM_012320.3 367 aGT/a 0 Frame_Shift_Del GT 36 PLA2G15 DEL 16 GT - 66850923 66850922 Baylor PPFIA1 8500 hgsc.bcm.edu GRCh37 11 70170996 70170996 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000253925.7:c.410G>A p.Arg137Gln p.R137Q ENST00000253925 NM_003626.3 137 cGg/cAg 0 Missense_Mutation G 39 PPFIA1 SNP 11 G A 69848644 69848644 Baylor PTCHD3 374308 hgsc.bcm.edu GRCh37 10 27687473 27687473 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000438700.3:c.2054A>C p.Lys685Thr p.K685T ENST00000438700 NM_001034842.3 685 aAa/aCa 0 Missense_Mutation T 64 PTCHD3 SNP 10 T G 27727479 27727479 Baylor PXN 5829 hgsc.bcm.edu GRCh37 12 120652710 120652710 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000267257.7:c.1238G>C p.Arg413Pro p.R413P ENST00000267257 NM_001243756.1 413 cGg/cCg 0 Missense_Mutation C 23 PXN SNP 12 C G 119137093 119137093 Baylor RASGEF1C 255426 hgsc.bcm.edu GRCh37 5 179555467 179555467 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393371.2:c.582C>T p.Leu194= p.L194= ENST00000393371 194 ctC/ctT 0 Silent G 41 RASGEF1C SNP 5 G A 179488073 179488073 Baylor RBM12B 389677 hgsc.bcm.edu GRCh37 8 94746145 94746145 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399300.2:c.2494del p.Glu832ArgfsTer55 p.E832Rfs*55 ENST00000399300 NM_203390.2 832 Gag/ag 0 Frame_Shift_Del C 30 RBM12B DEL 8 C - 94815321 94815321 Baylor RBM12B 389677 hgsc.bcm.edu GRCh37 8 94746151 94746151 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399300.2:c.2488C>T p.Pro830Ser p.P830S ENST00000399300 NM_203390.2 830 Ccc/Tcc 0 Missense_Mutation G 43 RBM12B SNP 8 G A 94815327 94815327 Baylor S100A7L2 645922 hgsc.bcm.edu GRCh37 1 153410740 153410740 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368725.2:c.99A>G p.Gly33= p.G33= ENST00000368725 NM_001045479.1 33 ggA/ggG 0 Silent T 54 S100A7L2 SNP 1 T C 151677364 151677364 Baylor SEC63 11231 hgsc.bcm.edu GRCh37 6 108214774 108214774 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369002.4:c.1586del p.Lys529ArgfsTer4 p.K529Rfs*4 ENST00000369002 NM_007214.4 529 aAg/ag 0 Frame_Shift_Del T 56 SEC63 DEL 6 T - 108321467 108321467 Baylor SEMA5A 9037 hgsc.bcm.edu GRCh37 5 9066612 9066612 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000382496.5:c.2220G>A p.Pro740= p.P740= ENST00000382496 NM_003966.2 740 ccG/ccA 0 Silent C 31 SEMA5A SNP 5 C T 9119612 9119612 Baylor SFI1 9814 hgsc.bcm.edu GRCh37 22 32013014 32013014 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000400288.2:c.3462G>T p.Glu1154Asp p.E1154D ENST00000400288 NM_001007467.2 1154 gaG/gaT 0 Missense_Mutation G 35 SFI1 SNP 22 G T 30343014 30343014 Baylor SGTA 6449 hgsc.bcm.edu GRCh37 19 2762579 2762579 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000221566.2:c.561G>C p.Glu187Asp p.E187D ENST00000221566 NM_003021.3 187 gaG/gaC 0 Missense_Mutation C 28 SGTA SNP 19 C G 2713579 2713579 Baylor SIN3A 25942 hgsc.bcm.edu GRCh37 15 75682046 75682046 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000394947.3:c.2968C>T p.His990Tyr p.H990Y ENST00000394947 NM_001145358.1 990 Cat/Tat 0 Missense_Mutation G 45 SIN3A SNP 15 G A 73469099 73469099 Baylor SLC24A4 123041 hgsc.bcm.edu GRCh37 14 92949084 92949084 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000532405.1:c.1316T>A p.Val439Asp p.V439D ENST00000532405 439 gTc/gAc 0 Missense_Mutation T 58 SLC24A4 SNP 14 T A 92018837 92018837 Baylor SLC2A11 66035 hgsc.bcm.edu GRCh37 22 24217312 24217312 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000398356.2:c.311C>A p.Ser104Tyr p.S104Y ENST00000398356 NM_001024938.2 104 tCc/tAc 0 Missense_Mutation C 30 SLC2A11 SNP 22 C A 22547312 22547312 Baylor SLC8A1 6546 hgsc.bcm.edu GRCh37 2 40656621 40656621 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000403092.1:c.800G>T p.Arg267Leu p.R267L ENST00000403092 267 cGa/cTa 0 Missense_Mutation C 31 SLC8A1 SNP 2 C A 40510125 40510125 Baylor SLFN5 162394 hgsc.bcm.edu GRCh37 17 33591527 33591527 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000299977.4:c.1464A>T p.Leu488Phe p.L488F ENST00000299977 NM_144975.3 488 ttA/ttT 0 Missense_Mutation A 16 SLFN5 SNP 17 A T 30615640 30615640 Baylor SLIT3 6586 hgsc.bcm.edu GRCh37 5 168189632 168189632 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000519560.1:c.1522A>G p.Lys508Glu p.K508E ENST00000519560 NM_003062.3 508 Aag/Gag 0 Missense_Mutation T 62 SLIT3 SNP 5 T C 168122210 168122210 Baylor SMC1B 27127 hgsc.bcm.edu GRCh37 22 45748333 45748333 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000357450.4:c.3423C>G p.His1141Gln p.H1141Q ENST00000357450 NM_148674.3 1141 caC/caG 0 Missense_Mutation G 48 SMC1B SNP 22 G C 44126997 44126997 Baylor SOX30 11063 hgsc.bcm.edu GRCh37 5 157053432 157053432 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265007.6:c.2178G>A p.Pro726= p.P726= ENST00000265007 NM_178424.1 726 ccG/ccA 0 Silent C 31 SOX30 SNP 5 C T 156986010 156986010 Baylor SPRED2 200734 hgsc.bcm.edu GRCh37 2 65559174 65559174 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356388.4:c.385T>C p.Ser129Pro p.S129P ENST00000356388 NM_181784.2 129 Tca/Cca 0 Missense_Mutation A 10 SPRED2 SNP 2 A G 65412678 65412678 Baylor TAF1 6872 hgsc.bcm.edu GRCh37 X 70679490 70679490 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000276072.3:c.5213T>G p.Leu1738Arg p.L1738R ENST00000276072 1738 cTt/cGt 0 Missense_Mutation T 56 TAF1 SNP 23 T G 70596215 70596215 Baylor TAGAP 117289 hgsc.bcm.edu GRCh37 6 159460322 159460322 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367066.3:c.607C>G p.Arg203Gly p.R203G ENST00000367066 NM_054114.4 203 Cgg/Ggg 0 Missense_Mutation G 39 TAGAP SNP 6 G C 159380310 159380310 Baylor TG 7038 hgsc.bcm.edu GRCh37 8 133894179 133894179 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000220616.4:c.710G>A p.Cys237Tyr p.C237Y ENST00000220616 NM_003235.4 237 tGt/tAt 0 Missense_Mutation G 48 TG SNP 8 G A 133963361 133963361 Baylor THBS3 7059 hgsc.bcm.edu GRCh37 1 155174662 155174662 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000368378.3:c.630G>C p.Glu210Asp p.E210D ENST00000368378 NM_007112.4 210 gaG/gaC 0 Missense_Mutation C 20 THBS3 SNP 1 C G 153441286 153441286 Baylor TIMD4 91937 hgsc.bcm.edu GRCh37 5 156381495 156381495 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000274532.2:c.331T>A p.Cys111Ser p.C111S ENST00000274532 NM_138379.2 111 Tgc/Agc 0 Missense_Mutation A 7 TIMD4 SNP 5 A T 156314073 156314073 Baylor TMEM177 80775 hgsc.bcm.edu GRCh37 2 120439259 120439259 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000424086.1:c.830A>C p.Asn277Thr p.N277T ENST00000424086 NM_001105198.1 277 aAc/aCc 0 Missense_Mutation A 2 TMEM177 SNP 2 A C 120155729 120155729 Baylor TNIK 23043 hgsc.bcm.edu GRCh37 3 170946006 170946006 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000436636.2:c.128G>C p.Arg43Pro p.R43P ENST00000436636 NM_015028.2 43 cGt/cCt 0 Missense_Mutation C 19 TNIK SNP 3 C G 172428700 172428700 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C T rs28934576 Unknown TCGA-13-0900-01 TCGA-13-0900-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269305.4:c.818G>A p.Arg273His p.R273H ENST00000269305 NM_001126112.2 273 cGt/cAt 0 Missense_Mutation C 19 TP53 SNP 17 C T 7517845 7517845 Baylor TSPAN31 6302 hgsc.bcm.edu GRCh37 12 58139676 58139676 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000257910.3:c.212A>C p.His71Pro p.H71P ENST00000257910 NM_005981.3 71 cAc/cCc 0 Missense_Mutation A 6 TSPAN31 SNP 12 A C 56425943 56425943 Baylor UBLCP1 134510 hgsc.bcm.edu GRCh37 5 158705261 158705261 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000296786.6:c.700G>A p.Val234Ile p.V234I ENST00000296786 NM_145049.3 234 Gtt/Att 0 Missense_Mutation G 48 UBLCP1 SNP 5 G A 158637839 158637839 Baylor ZFHX3 463 hgsc.bcm.edu GRCh37 16 72827204 72827204 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000268489.5:c.9377T>G p.Leu3126Arg p.L3126R ENST00000268489 NM_006885.3 3126 cTc/cGc 0 Missense_Mutation A 11 ZFHX3 SNP 16 A C 71384705 71384705 Baylor ZNF654 55279 hgsc.bcm.edu GRCh37 3 88190160 88190160 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0900-01 TCGA-13-0900-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000309495.5:c.1700A>C p.Lys567Thr p.K567T ENST00000309495 NM_018293.2 567 aAa/aCa 0 Missense_Mutation A 1 ZNF654 SNP 3 A C 88272850 88272850 Baylor BAI2 576 broad.mit.edu GRCh37 1 32202221 32202221 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000373658.3:c.3083G>C p.Arg1028Pro p.R1028P ENST00000373658 NM_001703.2 1028 cGg/cCg 0 Missense_Mutation C 23 BAI2 SNP 1 C G 31974808 31974808 Broad LRRC41 10489 broad.mit.edu GRCh37 1 46751997 46751997 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000343304.6:c.532G>A p.Glu178Lys p.E178K ENST00000343304 NM_006369.4 178 Gag/Aag 0 Missense_Mutation C 31 LRRC41 SNP 1 C T 46524584 46524584 Broad C1orf173 127254 broad.mit.edu GRCh37 1 75055494 75055494 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x ENST00000326665.5:c.1997A>C p.Glu666Ala p.E666A ENST00000326665 NM_001002912.4 666 gAg/gCg 0 Missense_Mutation T 54 C1orf173 SNP 1 T G 74828082 74828082 Broad SSX2IP 117178 broad.mit.edu GRCh37 1 85128152 85128152 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000342203.3:c.735T>C p.Gly245= p.G245= ENST00000342203 NM_014021.3 245 ggT/ggC 0 Silent A 14 SSX2IP SNP 1 A G 84900740 84900740 Broad NTNG1 22854 broad.mit.edu GRCh37 1 107866918 107866918 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000370068.1:c.261G>A p.Met87Ile p.M87I ENST00000370068 87 atG/atA 0 Missense_Mutation G 48 NTNG1 SNP 1 G A 107668441 107668441 Broad PGLYRP3 114771 broad.mit.edu GRCh37 1 153274927 153274927 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000290722.1:c.686C>A p.Ser229Tyr p.S229Y ENST00000290722 NM_052891.1 229 tCc/tAc 0 Missense_Mutation G 41 PGLYRP3 SNP 1 G T 151541551 151541551 Broad FCRL5 83416 broad.mit.edu GRCh37 1 157516843 157516843 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000361835.3:c.197T>G p.Ile66Arg p.I66R ENST00000361835 NM_001195388.1 66 aTa/aGa 0 Missense_Mutation A 16 FCRL5 SNP 1 A C 155783467 155783467 Broad FBXO28 23219 broad.mit.edu GRCh37 1 224321795 224321795 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000366862.5:c.397A>T p.Asn133Tyr p.N133Y ENST00000366862 NM_015176.3 133 Aac/Tac 0 Missense_Mutation A 1 FBXO28 SNP 1 A T 222388418 222388418 Broad OR2M2 391194 broad.mit.edu GRCh37 1 248343719 248343719 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000359682.2:c.432G>A p.Met144Ile p.M144I ENST00000359682 NM_001004688.1 144 atG/atA 0 Missense_Mutation G 47 OR2M2 SNP 1 G A 246410342 246410342 Broad MKX 283078 broad.mit.edu GRCh37 10 28023684 28023684 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000375790.5:c.539G>T p.Gly180Val p.G180V ENST00000375790 180 gGg/gTg 0 Missense_Mutation C 22 MKX SNP 10 C A 28063690 28063690 Broad LZTS2 84445 broad.mit.edu GRCh37 10 102763427 102763427 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000370220.1:c.572C>G p.Ser191Cys p.S191C ENST00000370220 191 tCc/tGc 0 Missense_Mutation C 30 LZTS2 SNP 10 C G 102753417 102753417 Broad TMEM132A 54972 broad.mit.edu GRCh37 11 60703454 60703454 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000005286.4:c.2150C>G p.Pro717Arg p.P717R ENST00000005286 NM_178031.2 717 cCa/cGa 0 Missense_Mutation C 21 TMEM132A SNP 11 C G 60460030 60460030 Broad MRPL11 65003 broad.mit.edu GRCh37 11 66204862 66204862 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000310999.7:c.272T>C p.Leu91Pro p.L91P ENST00000310999 NM_016050.3 91 cTg/cCg 0 Missense_Mutation A 7 MRPL11 SNP 11 A G 65961438 65961438 Broad C11orf30 56946 broad.mit.edu GRCh37 11 76207393 76207393 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000529032.1:c.1243G>C p.Val415Leu p.V415L ENST00000529032 415 Gtg/Ctg 0 Missense_Mutation G 36 C11orf30 SNP 11 G C 75885041 75885041 Broad GRAMD1B 57476 broad.mit.edu GRCh37 11 123480517 123480517 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000529750.1:c.1243C>T p.Pro415Ser p.P415S ENST00000529750 NM_020716.1 415 Cca/Tca 0 Missense_Mutation C 30 GRAMD1B SNP 11 C T 122985727 122985727 Broad FEZ1 9638 broad.mit.edu GRCh37 11 125359623 125359623 + synonymous_variant Silent SNP G G C novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000278919.3:c.51C>G p.Pro17= p.P17= ENST00000278919 NM_005103.4 17 ccC/ccG 0 Silent G 35 FEZ1 SNP 11 G C 124864833 124864833 Broad CAPRIN2 65981 broad.mit.edu GRCh37 12 30906458 30906458 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000298892.5:c.240G>A p.Gly80= p.G80= ENST00000298892 NM_023925.3 80 ggG/ggA 0 Silent C 30 CAPRIN2 SNP 12 C T 30797725 30797725 Broad KRT6A 3853 broad.mit.edu GRCh37 12 52884933 52884933 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000330722.6:c.779G>A p.Arg260His p.R260H ENST00000330722 NM_005554.3 260 cGc/cAc 0 Missense_Mutation C 27 KRT6A SNP 12 C T 51171200 51171200 Broad CSAD 51380 broad.mit.edu GRCh37 12 53553935 53553935 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000267085.4:c.1216C>T p.Arg406Trp p.R406W ENST00000267085 NM_015989.4 406 Cgg/Tgg 0 Missense_Mutation G 38 CSAD SNP 12 G A 51840202 51840202 Broad DDIT3 1649 broad.mit.edu GRCh37 12 57911116 57911116 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000551116.1:c.143T>G p.Leu48Arg p.L48R ENST00000551116 NM_001195054.1 48 cTg/cGg 0 Missense_Mutation A 7 DDIT3 SNP 12 A C 56197383 56197383 Broad HECTD4 283450 broad.mit.edu GRCh37 12 112608168 112608168 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000550722.1:c.11583G>T p.Glu3861Asp p.E3861D ENST00000550722 NM_001109662.3 3861 gaG/gaT 0 Missense_Mutation C 32 C12orf51 SNP 12 C A 111092551 111092551 Broad C12orf49 79794 broad.mit.edu GRCh37 12 117158152 117158152 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000261318.3:c.369C>T p.Gly123= p.G123= ENST00000261318 NM_024738.1 123 ggC/ggT 0 Silent G 34 C12orf49 SNP 12 G A 115642535 115642535 Broad BRCA2 675 broad.mit.edu GRCh37 13 32910625 32910625 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000380152.3:c.2133C>A p.Cys711Ter p.C711* ENST00000380152 711 tgC/tgA 0 Nonsense_Mutation C 26 BRCA2 SNP 13 C A 31808625 31808625 Broad ABHD13 84945 broad.mit.edu GRCh37 13 108882235 108882235 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000375898.3:c.669A>G p.Pro223= p.P223= ENST00000375898 NM_032859.2 223 ccA/ccG 0 Silent A 6 ABHD13 SNP 13 A G 107680236 107680236 Broad CPSF2 53981 broad.mit.edu GRCh37 14 92621554 92621554 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000298875.4:c.1329G>T p.Met443Ile p.M443I ENST00000298875 NM_017437.2 443 atG/atT 0 Missense_Mutation G 45 CPSF2 SNP 14 G T 91691307 91691307 Broad ADSSL1 122622 broad.mit.edu GRCh37 14 105212597 105212597 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000332972.5:c.1325T>C p.Val442Ala p.V442A ENST00000332972 NM_199165.1 442 gTc/gCc 0 Missense_Mutation T 58 ADSSL1 SNP 14 T C 104283642 104283642 Broad AHNAK2 113146 broad.mit.edu GRCh37 14 105420500 105420500 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000333244.5:c.1288G>C p.Glu430Gln p.E430Q ENST00000333244 NM_138420.2 430 Gag/Cag 0 Missense_Mutation C 30 AHNAK2 SNP 14 C G 104491545 104491545 Broad NEDD4 4734 broad.mit.edu GRCh37 15 56208548 56208548 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000338963.2:c.482C>A p.Ser161Tyr p.S161Y ENST00000338963 NM_198400.2 161 tCt/tAt 0 Missense_Mutation G 33 NEDD4 SNP 15 G T 53995840 53995840 Broad CA12 771 broad.mit.edu GRCh37 15 63634277 63634277 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000178638.3:c.449A>C p.Asn150Thr p.N150T ENST00000178638 NM_001218.3 150 aAc/aCc 0 Missense_Mutation T 60 CA12 SNP 15 T G 61421330 61421330 Broad PSMA4 5685 broad.mit.edu GRCh37 15 78834948 78834948 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000044462.7:c.170A>C p.Asp57Ala p.D57A ENST00000044462 NM_002789.4 57 gAt/gCt 0 Missense_Mutation A 12 PSMA4 SNP 15 A C 76622003 76622003 Broad TICRR 90381 broad.mit.edu GRCh37 15 90145047 90145047 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000268138.7:c.2407G>A p.Val803Ile p.V803I ENST00000268138 803 Gtc/Atc 0 Missense_Mutation G 48 C15orf42 SNP 15 G A 87946051 87946051 Broad VIMP 55829 broad.mit.edu GRCh37 15 101812979 101812979 + synonymous_variant Silent SNP G G C novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000398226.3:c.567C>G p.Gly189= p.G189= ENST00000398226 189 ggC/ggG 0 Silent G 34 SELS SNP 15 G C 99630502 99630502 Broad FLYWCH2 114984 broad.mit.edu GRCh37 16 2949111 2949111 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000396958.3:c.384C>T p.Asn128= p.N128= ENST00000396958 NM_138439.2 128 aaC/aaT 0 Silent C 20 FLYWCH2 SNP 16 C T 2889112 2889112 Broad CLDN9 9080 broad.mit.edu GRCh37 16 3063589 3063589 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000445369.2:c.226G>C p.Asp76His p.D76H ENST00000445369 NM_020982.3 76 Gac/Cac 0 Missense_Mutation G 41 CLDN9 SNP 16 G C 3003590 3003590 Broad CCDC102A 92922 broad.mit.edu GRCh37 16 57559891 57559891 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000258214.2:c.734C>A p.Thr245Lys p.T245K ENST00000258214 NM_033212.3 245 aCg/aAg 0 Missense_Mutation G 40 CCDC102A SNP 16 G T 56117392 56117392 Broad TP53 7157 broad.mit.edu GRCh37 17 7577022 7577022 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000269305.4:c.916C>T p.Arg306Ter p.R306* ENST00000269305 NM_001126112.2 306 Cga/Tga 0 Nonsense_Mutation G 38 TP53 SNP 17 G A 7517747 7517747 Broad ALOXE3 59344 broad.mit.edu GRCh37 17 8018366 8018366 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000318227.3:c.840C>T p.Ile280= p.I280= ENST00000318227 NM_001165960.1 280 atC/atT 0 Silent G 33 ALOXE3 SNP 17 G A 7959091 7959091 Broad NEK8 284086 broad.mit.edu GRCh37 17 27065157 27065157 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000268766.6:c.1116A>G p.Ala372= p.A372= ENST00000268766 NM_178170.2 372 gcA/gcG 0 Silent A 7 NEK8 SNP 17 A G 24089284 24089284 Broad NF1 4763 broad.mit.edu GRCh37 17 29585518 29585518 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000358273.4:c.4330A>G p.Lys1444Glu p.K1444E ENST00000358273 NM_001042492.2 1444 Aag/Gag 0 Missense_Mutation A 1 NF1 SNP 17 A G 26609644 26609644 Broad EMILIN2 84034 broad.mit.edu GRCh37 18 2890859 2890859 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000254528.3:c.734C>A p.Thr245Lys p.T245K ENST00000254528 NM_032048.2 245 aCg/aAg 0 Missense_Mutation C 19 EMILIN2 SNP 18 C A 2880859 2880859 Broad DSEL 92126 broad.mit.edu GRCh37 18 65178448 65178448 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000310045.7:c.3428T>A p.Phe1143Tyr p.F1143Y ENST00000310045 NM_032160.2 1143 tTt/tAt 0 Missense_Mutation A 1 DSEL SNP 18 A T 63329428 63329428 Broad DSEL 92126 broad.mit.edu GRCh37 18 65181739 65181739 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000310045.7:c.137C>T p.Thr46Ile p.T46I ENST00000310045 NM_032160.2 46 aCa/aTa 0 Missense_Mutation G 48 DSEL SNP 18 G A 63332719 63332719 Broad PIP5K1C 23396 broad.mit.edu GRCh37 19 3645970 3645970 + splice_donor_variant Splice_Site SNP A A G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000335312.3:c.1345+2T>C p.X449_splice ENST00000335312 NM_012398.2 0 Splice_Site_SNP A 14 PIP5K1C SNP 19 A G 3596970 3596970 Broad PLEKHF1 79156 broad.mit.edu GRCh37 19 30165158 30165158 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000436066.3:c.412G>A p.Gly138Ser p.G138S ENST00000436066 NM_024310.4 138 Ggc/Agc 0 Missense_Mutation G 43 PLEKHF1 SNP 19 G A 34856998 34856998 Broad ACTN4 81 broad.mit.edu GRCh37 19 39205150 39205150 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000252699.2:c.861C>A p.Val287= p.V287= ENST00000252699 NM_004924.4 287 gtC/gtA 0 Silent C 29 ACTN4 SNP 19 C A 43896990 43896990 Broad MAP4K3 8491 broad.mit.edu GRCh37 2 39553363 39553363 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000263881.3:c.586G>A p.Asp196Asn p.D196N ENST00000263881 NM_003618.3 196 Gat/Aat 0 Missense_Mutation C 29 MAP4K3 SNP 2 C T 39406867 39406867 Broad C2orf78 388960 broad.mit.edu GRCh37 2 74042850 74042850 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000409561.1:c.1500G>C p.Arg500Ser p.R500S ENST00000409561 NM_001080474.1 500 agG/agC 0 Missense_Mutation G 41 C2orf78 SNP 2 G C 73896358 73896358 Broad MALL 7851 broad.mit.edu GRCh37 2 110845256 110845256 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000272462.2:c.292A>T p.Thr98Ser p.T98S ENST00000272462 NM_005434.4 98 Acc/Tcc 0 Missense_Mutation T 58 MALL SNP 2 T A 110202545 110202545 Broad LRP2 4036 broad.mit.edu GRCh37 2 170063340 170063340 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000263816.3:c.6890T>C p.Leu2297Ser p.L2297S ENST00000263816 NM_004525.2 2297 tTg/tCg 0 Missense_Mutation A 5 LRP2 SNP 2 A G 169771586 169771586 Broad LRP2 4036 broad.mit.edu GRCh37 2 170147490 170147490 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000263816.3:c.787G>A p.Val263Ile p.V263I ENST00000263816 NM_004525.2 263 Gtt/Att 0 Missense_Mutation C 17 LRP2 SNP 2 C T 169855736 169855736 Broad TTN 7273 broad.mit.edu GRCh37 2 179457223 179457223 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000589042.1:c.59509C>T p.Pro19837Ser p.P19837S ENST00000589042 NM_001267550.1 19837 Cca/Tca 0 Missense_Mutation G 41 TTN SNP 2 G A 179165469 179165469 Broad MAP2 4133 broad.mit.edu GRCh37 2 210517994 210517994 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000360351.4:c.100C>A p.Gln34Lys p.Q34K ENST00000360351 NM_002374.3 34 Caa/Aaa 0 Missense_Mutation C 29 MAP2 SNP 2 C A 210226239 210226239 Broad STK36 27148 broad.mit.edu GRCh37 2 219559278 219559278 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000295709.3:c.2431G>T p.Gly811Cys p.G811C ENST00000295709 NM_015690.4 811 Ggt/Tgt 0 Missense_Mutation G 47 STK36 SNP 2 G T 219267522 219267522 Broad NOP56 10528 broad.mit.edu GRCh37 20 2636044 2636044 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000329276.5:c.643C>T p.Gln215Ter p.Q215* ENST00000329276 NM_006392.3 215 Cag/Tag 0 Nonsense_Mutation C 21 NOP56 SNP 20 C T 2584044 2584044 Broad FAM83D 81610 broad.mit.edu GRCh37 20 37580824 37580824 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000217429.4:c.1509C>T p.Ser503= p.S503= ENST00000217429 NM_030919.2 503 tcC/tcT 0 Silent C 21 FAM83D SNP 20 C T 37014238 37014238 Broad LDOC1L 84247 broad.mit.edu GRCh37 22 44892979 44892979 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000341255.3:c.458T>A p.Ile153Asn p.I153N ENST00000341255 NM_032287.2 153 aTc/aAc 0 Missense_Mutation A 12 LDOC1L SNP 22 A T 43271643 43271643 Broad BRPF1 7862 broad.mit.edu GRCh37 3 9782526 9782526 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000383829.2:c.1623C>G p.His541Gln p.H541Q ENST00000383829 NM_001003694.1 541 caC/caG 0 Missense_Mutation C 17 BRPF1 SNP 3 C G 9757526 9757526 Broad WNT7A 7476 broad.mit.edu GRCh37 3 13896086 13896086 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000285018.4:c.513G>T p.Glu171Asp p.E171D ENST00000285018 NM_004625.3 171 gaG/gaT 0 Missense_Mutation C 32 WNT7A SNP 3 C A 13871087 13871087 Broad CSRNP1 64651 broad.mit.edu GRCh37 3 39185371 39185371 + synonymous_variant Silent SNP A A T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000273153.5:c.945T>A p.Pro315= p.P315= ENST00000273153 NM_033027.3 315 ccT/ccA 0 Silent A 7 CSRNP1 SNP 3 A T 39160375 39160375 Broad RRP9 9136 broad.mit.edu GRCh37 3 51975463 51975463 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000232888.6:c.132G>T p.Lys44Asn p.K44N ENST00000232888 NM_004704.4 44 aaG/aaT 0 Missense_Mutation C 32 RRP9 SNP 3 C A 51950503 51950503 Broad CPOX 1371 broad.mit.edu GRCh37 3 98309879 98309879 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264193.2:c.677G>T p.Gly226Val p.G226V ENST00000264193 NM_000097.5 226 gGa/gTa 0 Missense_Mutation C 30 CPOX SNP 3 C A 99792569 99792569 Broad MYLK 4638 broad.mit.edu GRCh37 3 123427616 123427616 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000360304.3:c.2069C>T p.Thr690Met p.T690M ENST00000360304 NM_053025.3 690 aCg/aTg 0 Missense_Mutation G 40 MYLK SNP 3 G A 124910306 124910306 Broad AMOTL2 51421 broad.mit.edu GRCh37 3 134086487 134086487 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000249883.5:c.893G>C p.Ser298Thr p.S298T ENST00000249883 NM_016201.3 298 aGt/aCt 0 Missense_Mutation C 20 AMOTL2 SNP 3 C G 135569177 135569177 Broad TBL1XR1 79718 broad.mit.edu GRCh37 3 176769438 176769438 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000430069.1:c.281C>G p.Thr94Arg p.T94R ENST00000430069 94 aCa/aGa 0 Missense_Mutation G 48 TBL1XR1 SNP 3 G C 178252132 178252132 Broad SORCS2 57537 broad.mit.edu GRCh37 4 7716082 7716082 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000507866.2:c.2105G>A p.Arg702Gln p.R702Q ENST00000507866 NM_020777.2 702 cGg/cAg 0 Missense_Mutation G 39 SORCS2 SNP 4 G A 7766982 7766982 Broad KIAA1109 84162 broad.mit.edu GRCh37 4 123280783 123280783 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000264501.4:c.14707T>C p.Ser4903Pro p.S4903P ENST00000264501 4903 Tcc/Ccc 0 Missense_Mutation T 62 KIAA1109 SNP 4 T C 123500233 123500233 Broad PAPD7 11044 broad.mit.edu GRCh37 5 6748679 6748679 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000230859.6:c.812C>G p.Ser271Cys p.S271C ENST00000230859 NM_001171805.1 271 tCc/tGc 0 Missense_Mutation C 30 PAPD7 SNP 5 C G 6801679 6801679 Broad TRIO 7204 broad.mit.edu GRCh37 5 14297204 14297204 + synonymous_variant Silent SNP C C G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000344204.4:c.1200C>G p.Arg400= p.R400= ENST00000344204 NM_007118.2 400 cgC/cgG 0 Silent C 25 TRIO SNP 5 C G 14350204 14350204 Broad MROH2B 133558 broad.mit.edu GRCh37 5 41049516 41049516 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000399564.4:c.1367C>A p.Thr456Asn p.T456N ENST00000399564 NM_173489.4 456 aCt/aAt 0 Missense_Mutation G 36 HEATR7B2 SNP 5 G T 41085273 41085273 Broad NDUFAF2 91942 broad.mit.edu GRCh37 5 60241130 60241130 + synonymous_variant Silent SNP A A T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000296597.5:c.48A>T p.Ser16= p.S16= ENST00000296597 NM_174889.4 16 tcA/tcT 0 Silent A 5 NDUFAF2 SNP 5 A T 60276887 60276887 Broad RAD50 10111 broad.mit.edu GRCh37 5 131925370 131925370 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000265335.6:c.1293G>C p.Glu431Asp p.E431D ENST00000265335 431 gaG/gaC 0 Missense_Mutation G 33 RAD50 SNP 5 G C 131953269 131953269 Broad TRPC7 57113 broad.mit.edu GRCh37 5 135692447 135692447 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000513104.1:c.629A>T p.Asp210Val p.D210V ENST00000513104 NM_020389.2 210 gAc/gTc 0 Missense_Mutation T 58 TRPC7 SNP 5 T A 135720346 135720346 Broad TCOF1 6949 broad.mit.edu GRCh37 5 149753735 149753735 + splice_acceptor_variant Splice_Site SNP A A C novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000504761.2:c.871-2A>C p.X291_splice ENST00000504761 0 Splice_Site_SNP A 7 TCOF1 SNP 5 A C 149733928 149733928 Broad KCNK17 89822 broad.mit.edu GRCh37 6 39272379 39272379 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000373231.4:c.405C>T p.Phe135= p.F135= ENST00000373231 NM_031460.3 135 ttC/ttT 0 Silent G 33 KCNK17 SNP 6 G A 39380357 39380357 Broad COL9A1 1297 broad.mit.edu GRCh37 6 70983761 70983761 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000357250.6:c.1054C>T p.Arg352Cys p.R352C ENST00000357250 NM_001851.4 352 Cgt/Tgt 0 Missense_Mutation G 38 COL9A1 SNP 6 G A 71040482 71040482 Broad HACE1 57531 broad.mit.edu GRCh37 6 105291160 105291160 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000262903.4:c.340A>G p.Met114Val p.M114V ENST00000262903 NM_020771.3 114 Atg/Gtg 0 Missense_Mutation T 49 HACE1 SNP 6 T C 105397853 105397853 Broad NCOA7 135112 broad.mit.edu GRCh37 6 126236497 126236497 + synonymous_variant Silent SNP A A C novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000368357.3:c.2115A>C p.Thr705= p.T705= ENST00000368357 NM_001199619.1 705 acA/acC 0 Silent A 8 NCOA7 SNP 6 A C 126278190 126278190 Broad LATS1 9113 broad.mit.edu GRCh37 6 149983199 149983199 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000253339.5:c.3059G>C p.Arg1020Thr p.R1020T ENST00000253339 1020 aGa/aCa 0 Missense_Mutation C 32 LATS1 SNP 6 C G 150024892 150024892 Broad KLHL7 55975 broad.mit.edu GRCh37 7 23213826 23213826 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000339077.5:c.1670C>G p.Ala557Gly p.A557G ENST00000339077 NM_001031710.2 557 gCc/gGc 0 Missense_Mutation C 26 KLHL7 SNP 7 C G 23180351 23180351 Broad TNS3 64759 broad.mit.edu GRCh37 7 47342861 47342861 + synonymous_variant Silent SNP T T A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000398879.1:c.3144A>T p.Ser1048= p.S1048= ENST00000398879 1048 tcA/tcT 0 Silent T 59 TNS3 SNP 7 T A 47309386 47309386 Broad PCLO 27445 broad.mit.edu GRCh37 7 82544341 82544341 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000333891.9:c.12961G>A p.Ala4321Thr p.A4321T ENST00000333891 NM_033026.5 4321 Gct/Act 0 Missense_Mutation C 26 PCLO SNP 7 C T 82382277 82382277 Broad ABCB8 11194 broad.mit.edu GRCh37 7 150730931 150730931 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000358849.4:c.335G>A p.Gly112Glu p.G112E ENST00000358849 NM_007188.3 112 gGg/gAg 0 Missense_Mutation G 43 ABCB8 SNP 7 G A 150361864 150361864 Broad LONRF1 91694 broad.mit.edu GRCh37 8 12594483 12594483 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000398246.3:c.1280A>C p.Lys427Thr p.K427T ENST00000398246 NM_152271.3 427 aAa/aCa 0 Missense_Mutation T 64 LONRF1 SNP 8 T G 12638854 12638854 Broad DOCK5 80005 broad.mit.edu GRCh37 8 25198465 25198465 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000276440.7:c.2400G>T p.Met800Ile p.M800I ENST00000276440 NM_024940.6 800 atG/atT 0 Missense_Mutation G 46 DOCK5 SNP 8 G T 25254382 25254382 Broad COL15A1 1306 broad.mit.edu GRCh37 9 101747856 101747856 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000375001.3:c.110C>T p.Ser37Phe p.S37F ENST00000375001 NM_001855.4 37 tCc/tTc 0 Missense_Mutation C 30 COL15A1 SNP 9 C T 100787677 100787677 Broad FAM166A 401565 broad.mit.edu GRCh37 9 140139863 140139863 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000344774.4:c.418C>G p.Pro140Ala p.P140A ENST00000344774 NM_001001710.1 140 Cca/Gca 0 Missense_Mutation G 43 FAM166A SNP 9 G C 139259684 139259684 Broad FAM47C 442444 broad.mit.edu GRCh37 X 37028941 37028941 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000358047.3:c.2458G>A p.Gly820Arg p.G820R ENST00000358047 NM_001013736.2 820 Gga/Aga 0 Missense_Mutation G 39 FAM47C SNP 23 G A 36938862 36938862 Broad KDM5C 8242 broad.mit.edu GRCh37 X 53226114 53226114 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000375401.3:c.2735G>A p.Gly912Glu p.G912E ENST00000375401 NM_004187.3 912 gGg/gAg 0 Missense_Mutation C 22 KDM5C SNP 23 C T 53242839 53242839 Broad FGD1 2245 broad.mit.edu GRCh37 X 54473872 54473872 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000375135.3:c.2452G>T p.Ala818Ser p.A818S ENST00000375135 NM_004463.2 818 Gct/Tct 0 Missense_Mutation C 26 FGD1 SNP 23 C A 54490597 54490597 Broad FAAH2 158584 broad.mit.edu GRCh37 X 57358060 57358060 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000374900.4:c.442C>T p.Arg148Cys p.R148C ENST00000374900 NM_174912.3 148 Cgt/Tgt 0 Missense_Mutation C 23 FAAH2 SNP 23 C T 57374785 57374785 Broad ZDHHC15 158866 broad.mit.edu GRCh37 X 74742742 74742742 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000373367.3:c.118G>A p.Val40Ile p.V40I ENST00000373367 NM_144969.2 40 Gtc/Atc 0 Missense_Mutation C 19 ZDHHC15 SNP 23 C T 74659467 74659467 Broad SYTL4 94121 broad.mit.edu GRCh37 X 99941009 99941009 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000455616.1:c.1427A>T p.His476Leu p.H476L ENST00000455616 476 cAt/cTt 0 Missense_Mutation T 51 SYTL4 SNP 23 T A 99827665 99827665 Broad ACTRT1 139741 broad.mit.edu GRCh37 X 127185495 127185495 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown x x x ENST00000371124.3:c.691C>T p.Arg231Cys p.R231C ENST00000371124 NM_138289.3 231 Cgc/Tgc 0 Missense_Mutation G 40 ACTRT1 SNP 23 G A 127013176 127013176 Broad MIB1 57534 broad.mit.edu GRCh37 18 19353583 19353589 + splice_acceptor_variant,coding_sequence_variant Splice_Site DEL AGGTAAC AGGTAAC - novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000261537.6:c.532_538del p.Val178LysfsTer36 p.V178Kfs*36 ENST00000261537 NM_020774.3 0 Splice_Site_Del AGGTAAC 15 MIB1 DEL 18 - AGGTAAC 17607587 17607581 Broad NEB 4703 broad.mit.edu GRCh37 2 152566216 152566217 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-04-1331-01 TCGA-04-1331-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000397345.3:c.988dup p.Thr330AsnfsTer5 p.T330Nfs*5 ENST00000397345 NM_001164508.1 330 aca/aAca 0 Frame_Shift_Ins - 48 NEB INS 2 T - 152274463 152274462 Broad TRAPPC12 51112 genome.wustl.edu GRCh37 2 3464057 3464057 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324266.5:c.1627C>T p.Arg543Cys p.R543C ENST00000324266 NM_016030.5 543 Cgt/Tgt 0 Missense_Mutation C 19 TTC15 SNP 2 C T 3443064 3443064 WashU EFCAB4B 84766 genome.wustl.edu GRCh37 12 3768784 3768784 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000440314.2:c.708C>A p.Leu236= p.L236= ENST00000440314 NM_001144958.1 236 ctC/ctA 0 Silent G 33 EFCAB4B SNP 12 G T 3639045 3639045 WashU FAM217A 222826 genome.wustl.edu GRCh37 6 4070003 4070003 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274673.3:c.454C>T p.Pro152Ser p.P152S ENST00000274673 NM_173563.2 152 Ccc/Tcc 0 Missense_Mutation G 42 C6orf146 SNP 6 G A 4015002 4015002 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578403 7578403 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.527G>A p.Cys176Tyr p.C176Y ENST00000269305 NM_001126112.2 176 tGc/tAc 0 Missense_Mutation C 25 TP53 SNP 17 C T 7519128 7519128 WashU PPFIBP2 8495 genome.wustl.edu GRCh37 11 7661073 7661073 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299492.4:c.1347C>T p.Asp449= p.D449= ENST00000299492 NM_003621.3 449 gaC/gaT 0 Silent C 19 PPFIBP2 SNP 11 C T 7617649 7617649 WashU CAMTA1 23261 genome.wustl.edu GRCh37 1 7723427 7723427 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303635.7:c.820G>A p.Val274Met p.V274M ENST00000303635 NM_015215.2 274 Gtg/Atg 0 Missense_Mutation G 40 CAMTA1 SNP 1 G A 7646014 7646014 WashU MYO1F 4542 genome.wustl.edu GRCh37 19 8620639 8620639 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338257.8:c.45G>C p.Lys15Asn p.K15N ENST00000338257 NM_012335.3 15 aaG/aaC 0 Missense_Mutation C 28 MYO1F SNP 19 C G 8526639 8526639 WashU FANCD2 2177 genome.wustl.edu GRCh37 3 10106040 10106040 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287647.3:c.1948G>T p.Glu650Ter p.E650* ENST00000287647 NM_033084.3 650 Gaa/Taa 0 Nonsense_Mutation G 41 FANCD2 SNP 3 G T 10081040 10081040 WashU SMARCA4 6597 genome.wustl.edu GRCh37 19 11129635 11129635 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344626.4:c.2441C>A p.Thr814Lys p.T814K ENST00000344626 NM_003072.3 814 aCg/aAg 0 Missense_Mutation C 19 SMARCA4 SNP 19 C A 10990635 10990635 WashU FANCD2P2 genome.wustl.edu GRCh37 3 11925053 11925053 + splice_region_variant,non_coding_transcript_exon_variant Splice_Region SNP G G T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000437591.1:n.768G>T p.X256_splice ENST00000437591 0 Nonsense_Mutation G 41 LOC100129929 SNP 3 G T 11900053 11900053 WashU MAN2B1 4125 genome.wustl.edu GRCh37 19 12776302 12776302 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000456935.2:c.300C>G p.Ile100Met p.I100M ENST00000456935 NM_000528.3 100 atC/atG 0 Missense_Mutation G 41 MAN2B1 SNP 19 G C 12637302 12637302 WashU POTED 317754 genome.wustl.edu GRCh37 21 14983001 14983001 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299443.5:c.452A>G p.Lys151Arg p.K151R ENST00000299443 NM_174981.3 151 aAa/aGa 0 Missense_Mutation A 1 POTED SNP 21 A G 13904872 13904872 WashU EMR3 84658 genome.wustl.edu GRCh37 19 14758092 14758092 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253673.5:c.783T>C p.Asp261= p.D261= ENST00000253673 NM_032571.3 261 gaT/gaC 0 Silent A 12 EMR3 SNP 19 A G 14619092 14619092 WashU SOX6 55553 genome.wustl.edu GRCh37 11 16010675 16010675 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396356.3:c.1774C>T p.Arg592Cys p.R592C ENST00000396356 NM_033326.3 592 Cgc/Tgc 0 Missense_Mutation G 39 SOX6 SNP 11 G A 15967251 15967251 WashU FBXL7 23194 genome.wustl.edu GRCh37 5 15928350 15928350 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000504595.1:c.479C>T p.Thr160Met p.T160M ENST00000504595 NM_012304.4 160 aCg/aTg 0 Missense_Mutation C 19 FBXL7 SNP 5 C T 15981350 15981350 WashU EPS15L1 58513 genome.wustl.edu GRCh37 19 16495995 16495995 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000455140.2:c.2192G>C p.Gly731Ala p.G731A ENST00000455140 NM_001258374.1 731 gGa/gCa 0 Missense_Mutation C 30 EPS15L1 SNP 19 C G 16356995 16356995 WashU OR11H12 440153 genome.wustl.edu GRCh37 14 19377878 19377878 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000550708.1:c.285G>T p.Lys95Asn p.K95N ENST00000550708 NM_001013354.1 95 aaG/aaT 0 Missense_Mutation G 33 OR11H12 SNP 14 G T 18447878 18447878 WashU PNP 4860 genome.wustl.edu GRCh37 14 20943361 20943361 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361505.5:c.602A>T p.Glu201Val p.E201V ENST00000361505 NM_000270.3 201 gAg/gTg 0 Missense_Mutation A 11 PNP SNP 14 A T 20013201 20013201 WashU KIF17 57576 genome.wustl.edu GRCh37 1 20992729 20992729 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000247986.2:c.2889C>A p.Ser963Arg p.S963R ENST00000247986 963 agC/agA 0 Missense_Mutation G 46 KIF17 SNP 1 G T 20865316 20865316 WashU IFNA5 3442 genome.wustl.edu GRCh37 9 21304927 21304927 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000259555.4:c.329C>G p.Thr110Ser p.T110S ENST00000259555 NM_002169.2 110 aCt/aGt 0 Missense_Mutation G 36 IFNA5 SNP 9 G C 21294927 21294927 WashU MDS2 259283 genome.wustl.edu GRCh37 1 23966170 23966170 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374555.3:c.147C>A p.Ser49Arg p.S49R ENST00000374555 49 agC/agA 0 Missense_Mutation C 28 MDS2 SNP 1 C A 23838757 23838757 WashU REP15 387849 genome.wustl.edu GRCh37 12 27849550 27849550 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310791.2:c.55G>A p.Val19Ile p.V19I ENST00000310791 NM_001029874.1 19 Gtc/Atc 0 Missense_Mutation G 40 REP15 SNP 12 G A 27740817 27740817 WashU KIAA1462 57608 genome.wustl.edu GRCh37 10 30315774 30315774 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375377.1:c.3303G>A p.Pro1101= p.P1101= ENST00000375377 NM_020848.2 1101 ccG/ccA 0 Silent C 23 KIAA1462 SNP 10 C T 30355780 30355780 WashU FGD4 121512 genome.wustl.edu GRCh37 12 32735390 32735390 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000427716.2:c.589C>T p.His197Tyr p.H197Y ENST00000427716 NM_139241.2 197 Cat/Tat 0 Missense_Mutation C 21 FGD4 SNP 12 C T 32626657 32626657 WashU TULP1 7287 genome.wustl.edu GRCh37 6 35477519 35477519 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000229771.6:c.610G>C p.Glu204Gln p.E204Q ENST00000229771 NM_003322.3 204 Gag/Cag 0 Missense_Mutation C 30 TULP1 SNP 6 C G 35585497 35585497 WashU AOC2 314 genome.wustl.edu GRCh37 17 40997575 40997575 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253799.3:c.932C>T p.Ser311Leu p.S311L ENST00000253799 NM_009590.2 311 tCg/tTg 0 Missense_Mutation C 31 AOC2 SNP 17 C T 38251101 38251101 WashU PLCXD3 345557 genome.wustl.edu GRCh37 5 41313739 41313739 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377801.3:c.946G>T p.Glu316Ter p.E316* ENST00000377801 316 Gaa/Taa 0 Nonsense_Mutation C 29 PLCXD3 SNP 5 C A 41349496 41349496 WashU ZNFX1 57169 genome.wustl.edu GRCh37 20 47866023 47866023 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396105.1:c.3538A>G p.Arg1180Gly p.R1180G ENST00000396105 NM_021035.2 1180 Agg/Ggg 0 Missense_Mutation T 55 ZNFX1 SNP 20 T C 47299430 47299430 WashU ZNF182 7569 genome.wustl.edu GRCh37 X 47836716 47836716 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396965.1:c.770C>T p.Thr257Met p.T257M ENST00000396965 NM_001178099.1 257 aCg/aTg 0 Missense_Mutation G 40 ZNF182 SNP 23 G A 47721660 47721660 WashU NUP160 23279 genome.wustl.edu GRCh37 11 47869846 47869846 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378460.2:c.127C>T p.Arg43Trp p.R43W ENST00000378460 NM_015231.1 43 Cgg/Tgg 0 Missense_Mutation G 40 NUP160 SNP 11 G A 47826422 47826422 WashU TROAP 10024 genome.wustl.edu GRCh37 12 49724346 49724346 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257909.3:c.1718A>G p.Glu573Gly p.E573G ENST00000257909 NM_005480.3 573 gAa/gGa 0 Missense_Mutation A 9 TROAP SNP 12 A G 48010613 48010613 WashU ADNP 23394 genome.wustl.edu GRCh37 20 49509183 49509183 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396029.3:c.2068G>A p.Val690Ile p.V690I ENST00000396029 NM_015339.2 690 Gtt/Att 0 Missense_Mutation C 19 ADNP SNP 20 C T 48942590 48942590 WashU QRICH1 54870 genome.wustl.edu GRCh37 3 49069660 49069660 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395443.2:c.2094A>G p.Pro698= p.P698= ENST00000395443 NM_198880.1 698 ccA/ccG 0 Silent T 51 QRICH1 SNP 3 T C 49044664 49044664 WashU ZNF285 26974 genome.wustl.edu GRCh37 19 44896566 44896566 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330997.4:c.80A>G p.Lys27Arg p.K27R ENST00000330997 NM_152354.3 27 aAa/aGa 0 Missense_Mutation T 64 ZNF285 SNP 19 T C 49588406 49588406 WashU FIGNL1 63979 genome.wustl.edu GRCh37 7 50514775 50514775 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000419119.1:c.211G>T p.Asp71Tyr p.D71Y ENST00000419119 71 Gat/Tat 0 Missense_Mutation C 29 FIGNL1 SNP 7 C A 50482269 50482269 WashU ARHGAP35 2909 genome.wustl.edu GRCh37 19 47424187 47424187 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000404338.3:c.2255G>T p.Ser752Ile p.S752I ENST00000404338 NM_004491.4 752 aGt/aTt 0 Missense_Mutation G 36 GRLF1 SNP 19 G T 52116027 52116027 WashU OR5AK2 390181 genome.wustl.edu GRCh37 11 56756974 56756974 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326855.2:c.586A>G p.Ile196Val p.I196V ENST00000326855 NM_001005323.1 196 Atc/Gtc 0 Missense_Mutation A 8 OR5AK2 SNP 11 A G 56513550 56513550 WashU GNAS 2778 genome.wustl.edu GRCh37 20 57480494 57480494 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371085.3:c.489C>G p.Tyr163Ter p.Y163* ENST00000371085 NM_000516.4 163 taC/taG 0 Nonsense_Mutation C 19 GNAS SNP 20 C G 56913889 56913889 WashU XPO1 7514 genome.wustl.edu GRCh37 2 61724139 61724139 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000401558.2:c.763C>T p.Leu255= p.L255= ENST00000401558 NM_003400.3 255 Ctg/Ttg 0 Silent G 35 XPO1 SNP 2 G A 61577643 61577643 WashU ZC4H2 55906 genome.wustl.edu GRCh37 X 64141803 64141803 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374839.3:c.119C>T p.Ser40Leu p.S40L ENST00000374839 NM_018684.3 40 tCa/tTa 0 Missense_Mutation G 45 ZC4H2 SNP 23 G A 64058528 64058528 WashU TMEM248 55069 genome.wustl.edu GRCh37 7 66410186 66410186 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341567.4:c.383G>T p.Gly128Val p.G128V ENST00000341567 NM_017994.4 128 gGg/gTg 0 Missense_Mutation G 43 C7orf42 SNP 7 G T 66047621 66047621 WashU DGAT2L6 347516 genome.wustl.edu GRCh37 X 69421817 69421817 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333026.3:c.550G>T p.Val184Leu p.V184L ENST00000333026 NM_198512.1 184 Gtg/Ttg 0 Missense_Mutation G 44 DGAT2L6 SNP 23 G T 69338542 69338542 WashU SLC8A3 6547 genome.wustl.edu GRCh37 14 70518707 70518707 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381269.2:c.2031G>T p.Lys677Asn p.K677N ENST00000381269 NM_183002.1 677 aaG/aaT 0 Missense_Mutation C 24 SLC8A3 SNP 14 C A 69588460 69588460 WashU GC 2638 genome.wustl.edu GRCh37 4 72629573 72629573 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000504199.1:c.611T>C p.Met204Thr p.M204T ENST00000504199 NM_001204307.1 204 aTg/aCg 0 Missense_Mutation A 8 GC SNP 4 A G 72848437 72848437 WashU P4HA1 5033 genome.wustl.edu GRCh37 10 74810982 74810982 + synonymous_variant Silent SNP A A T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000412021.2:c.729T>A p.Gly243= p.G243= ENST00000412021 NM_001142595.1 243 ggT/ggA 0 Silent A 14 P4HA1 SNP 10 A T 74480988 74480988 WashU AFP 174 genome.wustl.edu GRCh37 4 74310761 74310761 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395792.2:c.765C>T p.Ile255= p.I255= ENST00000395792 NM_001134.1 255 atC/atT 0 Silent C 30 AFP SNP 4 C T 74529625 74529625 WashU STARD5 80765 genome.wustl.edu GRCh37 15 81605705 81605705 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302824.6:c.534C>A p.Thr178= p.T178= ENST00000302824 NM_181900.2 178 acC/acA 0 Silent G 39 STARD5 SNP 15 G T 79392760 79392760 WashU CPEB1 64506 genome.wustl.edu GRCh37 15 83240144 83240144 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000568128.1:c.329C>A p.Pro110His p.P110H ENST00000568128 NM_030594.3 110 cCc/cAc 0 Missense_Mutation G 43 CPEB1 SNP 15 G T 81037199 81037199 WashU AP3B2 8120 genome.wustl.edu GRCh37 15 83331513 83331513 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261722.3:c.2709C>A p.Ile903= p.I903= ENST00000261722 NM_004644.4 903 atC/atA 0 Nonsense_Mutation G 45 AP3B2 SNP 15 G T 81128568 81128568 WashU VCAN 1462 genome.wustl.edu GRCh37 5 82834217 82834217 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265077.3:c.5395T>A p.Leu1799Ile p.L1799I ENST00000265077 NM_004385.4 1799 Tta/Ata 0 Missense_Mutation T 52 VCAN SNP 5 T A 82869973 82869973 WashU PABPC5 140886 genome.wustl.edu GRCh37 X 90691013 90691013 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312600.3:c.437G>C p.Gly146Ala p.G146A ENST00000312600 NM_080832.2 146 gGt/gCt 0 Missense_Mutation G 44 PABPC5 SNP 23 G C 90577669 90577669 WashU HEPACAM2 253012 genome.wustl.edu GRCh37 7 92844715 92844715 + stop_gained,splice_region_variant Nonsense_Mutation SNP A A T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394468.2:c.714T>A p.Tyr238Ter p.Y238* ENST00000394468 NM_001039372.1 238 taT/taA 0 Nonsense_Mutation A 4 HEPACAM2 SNP 7 A T 92682651 92682651 WashU ANKRD36C genome.wustl.edu GRCh37 2 96525610 96525610 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000419039.2:c.976A>G p.Arg326Gly p.R326G ENST00000419039 326 Aga/Gga 0 Missense_Mutation T 54 LOC400986 SNP 2 T C 95889337 95889337 WashU ANKS6 203286 genome.wustl.edu GRCh37 9 101552872 101552872 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000353234.4:c.376G>C p.Val126Leu p.V126L ENST00000353234 126 Gtg/Ctg 0 Missense_Mutation C 17 ANKS6 SNP 9 C G 100592693 100592693 WashU ZMAT1 84460 genome.wustl.edu GRCh37 X 101152946 101152946 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372782.3:c.400C>T p.Leu134Phe p.L134F ENST00000372782 NM_001011657.3 134 Ctt/Ttt 0 Missense_Mutation G 36 ZMAT1 SNP 23 G A 101039602 101039602 WashU MMP13 4322 genome.wustl.edu GRCh37 11 102815027 102815027 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260302.3:c.1384G>A p.Val462Ile p.V462I ENST00000260302 NM_002427.3 462 Gtc/Atc 0 Missense_Mutation C 19 MMP13 SNP 11 C T 102320237 102320237 WashU CUX2 23316 genome.wustl.edu GRCh37 12 111785395 111785395 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261726.6:c.3727G>C p.Gly1243Arg p.G1243R ENST00000261726 NM_015267.3 1243 Ggt/Cgt 0 Missense_Mutation G 43 CUX2 SNP 12 G C 110269778 110269778 WashU RRH 10692 genome.wustl.edu GRCh37 4 110765294 110765294 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000317735.4:c.955G>C p.Val319Leu p.V319L ENST00000317735 NM_006583.2 319 Gtg/Ctg 0 Missense_Mutation G 48 RRH SNP 4 G C 110984743 110984743 WashU NXPE2 120406 genome.wustl.edu GRCh37 11 114569224 114569224 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389586.4:c.590G>A p.Ser197Asn p.S197N ENST00000389586 NM_182495.5 197 aGt/aAt 0 Missense_Mutation G 36 FAM55B SNP 11 G A 114074434 114074434 WashU AKNA 80709 genome.wustl.edu GRCh37 9 117139410 117139410 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307564.4:c.677C>G p.Pro226Arg p.P226R ENST00000307564 NM_030767.4 226 cCc/cGc 0 Missense_Mutation G 43 AKNA SNP 9 G C 116179231 116179231 WashU DPP10 57628 genome.wustl.edu GRCh37 2 116510874 116510874 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393147.2:c.1086+1G>A p.X362_splice ENST00000393147 NM_001178034.1 0 Splice_Site_SNP G 36 DPP10 SNP 2 G A 116227344 116227344 WashU VAX1 11023 genome.wustl.edu GRCh37 10 118891748 118891748 + downstream_gene_variant 3'Flank SNP G G T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369206 NM_001112704.1 0 Missense_Mutation G 41 VAX1 SNP 10 G T 118881738 118881738 WashU UTP14A 10813 genome.wustl.edu GRCh37 X 129041340 129041340 + splice_region_variant,intron_variant Splice_Region SNP C C G novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394422.3:c.27-3C>G p.X9_splice ENST00000394422 NM_006649.3 0 Splice_Site_SNP C 17 UTP14A SNP 23 C G 128869021 128869021 WashU BCLAF1 9774 genome.wustl.edu GRCh37 6 136597310 136597310 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000531224.1:c.1353T>A p.Asp451Glu p.D451E ENST00000531224 NM_001077441.1 451 gaT/gaA 0 Missense_Mutation A 8 BCLAF1 SNP 6 A T 136639003 136639003 WashU THSD7B 80731 genome.wustl.edu GRCh37 2 137990529 137990529 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272643.3:c.1976C>A p.Ser659Tyr p.S659Y ENST00000272643 659 tCc/tAc 0 Missense_Mutation C 30 THSD7B SNP 2 C A 137706999 137706999 WashU CPB1 1360 genome.wustl.edu GRCh37 3 148558742 148558742 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000491148.1:c.454C>T p.Arg152Cys p.R152C ENST00000491148 152 Cgc/Tgc 0 Missense_Mutation C 19 CPB1 SNP 3 C T 150041432 150041432 WashU LMNA 4000 genome.wustl.edu GRCh37 1 156096688 156096688 + intron_variant Intron SNP C C T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368300.4:c.357-3720C>T *119* ENST00000368300 NM_170707.3 0 Missense_Mutation C 27 LMNA SNP 1 C T 154363312 154363312 WashU CCDC148 130940 genome.wustl.edu GRCh37 2 159035456 159035456 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000283233.5:c.1423G>T p.Val475Leu p.V475L ENST00000283233 NM_138803.3 475 Gtg/Ttg 0 Missense_Mutation C 20 CCDC148 SNP 2 C A 158743702 158743702 WashU PKP4 8502 genome.wustl.edu GRCh37 2 159481794 159481794 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389759.3:c.1008G>A p.Ser336= p.S336= ENST00000389759 NM_003628.3 336 tcG/tcA 0 Silent G 40 PKP4 SNP 2 G A 159190040 159190040 WashU SFXN1 94081 genome.wustl.edu GRCh37 5 174940555 174940555 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321442.5:c.686T>C p.Val229Ala p.V229A ENST00000321442 NM_022754.5 229 gTt/gCt 0 Missense_Mutation T 60 SFXN1 SNP 5 T C 174873161 174873161 WashU UIMC1 51720 genome.wustl.edu GRCh37 5 176338311 176338311 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377227.4:c.1676+1G>A p.X559_splice ENST00000377227 0 Splice_Site_SNP C 20 UIMC1 SNP 5 C T 176270917 176270917 WashU NCF2 4688 genome.wustl.edu GRCh37 1 183543675 183543675 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367535.3:c.448A>G p.Met150Val p.M150V ENST00000367535 NM_000433.3 150 Atg/Gtg 0 Missense_Mutation T 51 NCF2 SNP 1 T C 181810298 181810298 WashU TPR 7175 genome.wustl.edu GRCh37 1 186328958 186328958 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367478.4:c.1362A>G p.Leu454= p.L454= ENST00000367478 NM_003292.2 454 ttA/ttG 0 Silent T 49 TPR SNP 1 T C 184595581 184595581 WashU FAM171B 165215 genome.wustl.edu GRCh37 2 187627354 187627354 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304698.5:c.2285A>C p.His762Pro p.H762P ENST00000304698 NM_177454.3 762 cAc/cCc 0 Missense_Mutation A 6 FAM171B SNP 2 A C 187335599 187335599 WashU BMPR2 659 genome.wustl.edu GRCh37 2 203383770 203383770 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374580.4:c.847C>A p.Pro283Thr p.P283T ENST00000374580 NM_001204.6 283 Ccc/Acc 0 Missense_Mutation C 30 BMPR2 SNP 2 C A 203092015 203092015 WashU TRIM67 440730 genome.wustl.edu GRCh37 1 231342437 231342437 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366653.5:c.1720G>A p.Gly574Ser p.G574S ENST00000366653 574 Ggt/Agt 0 Missense_Mutation G 39 TRIM67 SNP 1 G A 229409060 229409060 WashU LYST 1130 genome.wustl.edu GRCh37 1 235966296 235966296 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389794.3:c.3624G>T p.Gln1208His p.Q1208H ENST00000389794 1208 caG/caT 0 Missense_Mutation C 20 LYST SNP 1 C A 234032919 234032919 WashU FMN2 56776 genome.wustl.edu GRCh37 1 240370537 240370537 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319653.9:c.2425C>A p.Gln809Lys p.Q809K ENST00000319653 NM_020066.4 809 Cag/Aag 0 Missense_Mutation C 17 FMN2 SNP 1 C A 238437160 238437160 WashU FH 2271 genome.wustl.edu GRCh37 1 241663802 241663802 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366560.3:c.1325C>G p.Thr442Arg p.T442R ENST00000366560 NM_000143.3 442 aCa/aGa 0 Missense_Mutation G 48 FH SNP 1 G C 239730425 239730425 WashU OR2AK2 391191 genome.wustl.edu GRCh37 1 248128699 248128699 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366480.3:c.66T>A p.Ser22Arg p.S22R ENST00000366480 NM_001004491.1 22 agT/agA 0 Missense_Mutation T 60 OR2AK2 SNP 1 T A 246195322 246195322 WashU PNISR 25957 genome.wustl.edu GRCh37 6 99857075 99857075 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000369239.5:c.647del p.Pro216LeufsTer2 p.P216Lfs*2 ENST00000369239 NM_032870.2 216 cCt/ct 0 Frame_Shift_Del G 35 SFRS18 DEL 6 G - 99963796 99963796 WashU UBAP2L 9898 genome.wustl.edu GRCh37 1 154223752 154223752 + missense_variant Missense_Mutation SNP G G C Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000428931.1:c.1449G>C p.Gln483His p.Q483H ENST00000428931 NM_014847.3 483 caG/caC 0 Missense_Mutation G 33 UBAP2L SNP 1 G C 152490376 152490376 WashU SMYD1 150572 genome.wustl.edu GRCh37 2 88387386 88387386 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000419482.2:c.320C>T p.Ala107Val p.A107V ENST00000419482 NM_198274.3 107 gCg/gTg 0 Missense_Mutation C 27 SMYD1 SNP 2 C T 88168501 88168501 WashU CAMKV 79012 genome.wustl.edu GRCh37 3 49899251 49899251 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000477224.1:c.275G>A p.Arg92His p.R92H ENST00000477224 92 cGc/cAc 0 Missense_Mutation C 27 CAMKV SNP 3 C T 49874255 49874255 WashU DOCK3 1795 genome.wustl.edu GRCh37 3 51418727 51418727 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000266037.9:c.5830G>A p.Val1944Ile p.V1944I ENST00000266037 NM_004947.4 1944 Gtc/Atc 0 Missense_Mutation G 40 DOCK3 SNP 3 G A 51393767 51393767 WashU SNX8 29886 genome.wustl.edu GRCh37 7 2304007 2304007 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000222990.3:c.708C>A p.Arg236= p.R236= ENST00000222990 NM_013321.2 236 cgC/cgA 0 Silent G 38 SNX8 SNP 7 G T 2270533 2270533 WashU COL27A1 85301 genome.wustl.edu GRCh37 9 117070033 117070033 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356083.3:c.5192G>T p.Cys1731Phe p.C1731F ENST00000356083 NM_032888.2 1731 tGt/tTt 0 Missense_Mutation G 48 COL27A1 SNP 9 G T 116109854 116109854 WashU SPATA31E1 286234 genome.wustl.edu GRCh37 9 90503023 90503023 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000325643.5:c.3621C>T p.His1207= p.H1207= ENST00000325643 NM_178828.4 1207 caC/caT 0 Silent C 17 C9orf79 SNP 9 C T 89692843 89692843 WashU DSG4 147409 genome.wustl.edu GRCh37 18 28993336 28993336 + missense_variant Missense_Mutation SNP A A T Unknown TCGA-23-1123-01 TCGA-23-1123-10 A A A T A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000359747.4:c.2958A>T p.Arg986Ser p.R986S ENST00000359747 NM_001134453.1 986 agA/agT 0 Missense_Mutation A 11 DSG4 SNP 18 A T 27247334 27247334 WashU CACNA1A 773 genome.wustl.edu GRCh37 19 13325133 13325133 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-23-1123-01 TCGA-23-1123-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000360228.5:c.5854G>A p.Val1952Met p.V1952M ENST00000360228 NM_001127222.1 1952 Gtg/Atg 0 Missense_Mutation C 19 CACNA1A SNP 19 C T 13186133 13186133 WashU DHRSX 207063 genome.wustl.edu GRCh37 X 2326807 2326807 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000334651.5:c.265G>A p.Glu89Lys p.E89K ENST00000334651 NM_145177.2 89 Gaa/Aaa 0 Missense_Mutation C 32 DHRSX SNP 23 C T 2336807 2336807 WashU RNASEH1 246243 genome.wustl.edu GRCh37 2 3597983 3597983 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315212.3:c.489C>T p.Tyr163= p.Y163= ENST00000315212 NM_002936.3 163 taC/taT 0 Silent G 36 RNASEH1 SNP 2 G A 3575858 3575858 WashU SLX4 84464 genome.wustl.edu GRCh37 16 3639355 3639355 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294008.3:c.4284G>T p.Trp1428Cys p.W1428C ENST00000294008 NM_032444.2 1428 tgG/tgT 0 Missense_Mutation C 26 BTBD12 SNP 16 C A 3579356 3579356 WashU AKR1C1 1645 genome.wustl.edu GRCh37 10 5014864 5014864 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000380872.4:c.769C>T p.Leu257= p.L257= ENST00000380872 NM_001353.5 257 Ctg/Ttg 0 Silent C 24 AKR1C1 SNP 10 C T 5004864 5004864 WashU CRMP1 1400 genome.wustl.edu GRCh37 4 5843063 5843063 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000324989.7:c.1125C>T p.Ala375= p.A375= ENST00000324989 NM_001014809.1 375 gcC/gcT 0 Silent G 39 CRMP1 SNP 4 A A 5893964 5893964 WashU ACADVL 37 genome.wustl.edu GRCh37 17 7125517 7125517 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000543245.2:c.843C>T p.Ile281= p.I281= ENST00000543245 NM_001270447.1 281 atC/atT 0 Silent C 32 ACADVL SNP 17 C T 7066241 7066241 WashU SOGA2 23255 genome.wustl.edu GRCh37 18 8819131 8819131 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359865.3:c.3030G>A p.Lys1010= p.K1010= ENST00000359865 NM_015210.3 1010 aaG/aaA 0 Silent G 34 KIAA0802 SNP 18 G A 8809131 8809131 WashU USP7 7874 genome.wustl.edu GRCh37 16 8990874 8990874 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344836.4:c.2801A>T p.Lys934Ile p.K934I ENST00000344836 NM_003470.2 934 aAa/aTa 0 Missense_Mutation T 64 USP7 SNP 16 T A 8898375 8898375 WashU RNF182 221687 genome.wustl.edu GRCh37 6 13978055 13978055 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000488300.1:c.705T>C p.Val235= p.V235= ENST00000488300 NM_152737.3 235 gtT/gtC 0 Silent T 64 RNF182 SNP 6 T C 14086034 14086034 WashU ACTL8 81569 genome.wustl.edu GRCh37 1 18152772 18152772 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375406.1:c.859C>A p.Leu287Met p.L287M ENST00000375406 NM_030812.2 287 Ctg/Atg 0 Missense_Mutation C 24 ACTL8 SNP 1 C A 18025359 18025359 WashU IGSF22 283284 genome.wustl.edu GRCh37 11 18743090 18743090 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000513874.1:c.370G>C p.Val124Leu p.V124L ENST00000513874 NM_173588.3 124 Gtg/Ctg 0 Missense_Mutation C 19 IGSF22 SNP 11 C G 18699666 18699666 WashU ABCC9 10060 genome.wustl.edu GRCh37 12 21953991 21953991 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261200.4:c.4637G>A p.Arg1546His p.R1546H ENST00000261200 NM_020297.2 1546 cGc/cAc 0 Missense_Mutation C 27 ABCC9 SNP 12 C T 21845258 21845258 WashU ZNF98 148198 genome.wustl.edu GRCh37 19 22574616 22574616 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357774.5:c.1421C>T p.Ser474Phe p.S474F ENST00000357774 NM_001098626.1 474 tCc/tTc 0 Missense_Mutation G 41 ZNF98 SNP 19 G A 22366456 22366456 WashU NAPB 63908 genome.wustl.edu GRCh37 20 23360089 23360089 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377026.4:c.779C>A p.Thr260Asn p.T260N ENST00000377026 NM_022080.2 260 aCt/aAt 0 Missense_Mutation G 36 NAPB SNP 20 G T 23308089 23308089 WashU CDH10 1008 genome.wustl.edu GRCh37 5 24511468 24511468 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264463.4:c.970G>T p.Asp324Tyr p.D324Y ENST00000264463 NM_006727.3 324 Gac/Tac 0 Missense_Mutation C 30 CDH10 SNP 5 C A 24547225 24547225 WashU SEZ6L 23544 genome.wustl.edu GRCh37 22 26747080 26747080 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000248933.6:c.2470C>T p.Leu824= p.L824= ENST00000248933 824 Ctg/Ttg 0 Silent C 28 SEZ6L SNP 22 C T 25077080 25077080 WashU NPVF 64111 genome.wustl.edu GRCh37 7 25268013 25268013 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000222674.2:c.46A>T p.Thr16Ser p.T16S ENST00000222674 NM_022150.3 16 Act/Tct 0 Missense_Mutation T 59 NPVF SNP 7 T A 25234538 25234538 WashU KIF3C 3797 genome.wustl.edu GRCh37 2 26204159 26204159 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264712.3:c.628A>C p.Asn210His p.N210H ENST00000264712 NM_002254.6 210 Aat/Cat 0 Missense_Mutation T 62 KIF3C SNP 2 T G 26057663 26057663 WashU GABBR1 2550 genome.wustl.edu GRCh37 6 29588909 29588909 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377034.4:c.1292A>G p.Asn431Ser p.N431S ENST00000377034 NM_001470.2 431 aAt/aGt 0 Missense_Mutation T 52 GABBR1 SNP 6 T C 29696888 29696888 WashU KAT8 84148 genome.wustl.edu GRCh37 16 31131551 31131551 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000448516.2:c.256C>G p.Arg86Gly p.R86G ENST00000448516 NM_182958.2 86 Cga/Gga 0 Missense_Mutation C 23 MYST1 SNP 16 C G 31039052 31039052 WashU MARCKSL1 65108 genome.wustl.edu GRCh37 1 32800410 32800410 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000329421.7:c.376C>T p.Gln126Ter p.Q126* ENST00000329421 NM_023009.6 126 Cag/Tag 0 Nonsense_Mutation G 46 MARCKSL1 SNP 1 G A 32572997 32572997 WashU ADC 113451 genome.wustl.edu GRCh37 1 33560309 33560309 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294517.6:c.748G>C p.Glu250Gln p.E250Q ENST00000294517 NM_052998.2 250 Gaa/Caa 0 Missense_Mutation G 45 ADC SNP 1 G C 33332896 33332896 WashU B3GALT4 8705 genome.wustl.edu GRCh37 6 33245282 33245282 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000451237.1:c.86G>T p.Gly29Val p.G29V ENST00000451237 NM_003782.3 29 gGg/gTg 0 Missense_Mutation G 43 B3GALT4 SNP 6 G T 33353260 33353260 WashU BAK1 578 genome.wustl.edu GRCh37 6 33543662 33543662 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374467.3:c.114C>T p.Tyr38= p.Y38= ENST00000374467 NM_001188.3 38 taC/taT 0 Silent G 40 BAK1 SNP 6 G A 33651640 33651640 WashU RALGAPA1 253959 genome.wustl.edu GRCh37 14 36096537 36096537 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307138.6:c.5098G>A p.Gly1700Arg p.G1700R ENST00000307138 NM_194301.2 1700 Gga/Aga 0 Missense_Mutation C 21 RALGAPA1 SNP 14 C T 35166288 35166288 WashU APOBEC3D 140564 genome.wustl.edu GRCh37 22 39427839 39427839 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000216099.8:c.903C>T p.Ala301= p.A301= ENST00000216099 NM_152426.3 301 gcC/gcT 0 Silent C 23 APOBEC3D SNP 22 C T 37757785 37757785 WashU TUBG1 7283 genome.wustl.edu GRCh37 17 40764133 40764133 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000251413.3:c.371G>T p.Arg124Leu p.R124L ENST00000251413 NM_001070.4 124 cGg/cTg 0 Missense_Mutation G 39 TUBG1 SNP 17 G T 38017659 38017659 WashU HIVEP3 59269 genome.wustl.edu GRCh37 1 42047896 42047896 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372583.1:c.2573T>C p.Ile858Thr p.I858T ENST00000372583 NM_024503.4 858 aTc/aCc 0 Missense_Mutation A 12 HIVEP3 SNP 1 A G 41820483 41820483 WashU ABCG1 9619 genome.wustl.edu GRCh37 21 43710219 43710219 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361802.2:c.1320G>A p.Leu440= p.L440= ENST00000361802 NM_004915.3 440 ctG/ctA 0 Silent G 48 ABCG1 SNP 21 G A 42583288 42583288 WashU UBASH3A 53347 genome.wustl.edu GRCh37 21 43838668 43838668 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000319294.6:c.996G>A p.Pro332= p.P332= ENST00000319294 NM_018961.3 332 ccG/ccA 0 Silent G 39 UBASH3A SNP 21 G A 42711737 42711737 WashU ARID2 196528 genome.wustl.edu GRCh37 12 46233178 46233178 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334344.6:c.1397A>C p.Lys466Thr p.K466T ENST00000334344 NM_152641.2 466 aAa/aCa 0 Missense_Mutation A 1 ARID2 SNP 12 A C 44519445 44519445 WashU MED29 55588 genome.wustl.edu GRCh37 19 39882225 39882225 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315588.5:c.226G>C p.Asp76His p.D76H ENST00000315588 NM_017592.1 76 Gat/Cat 0 Missense_Mutation G 37 MED29 SNP 19 G C 44574065 44574065 WashU SYT13 57586 genome.wustl.edu GRCh37 11 45274062 45274062 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000020926.3:c.756C>G p.His252Gln p.H252Q ENST00000020926 NM_020826.2 252 caC/caG 0 Missense_Mutation G 48 SYT13 SNP 11 G C 45230638 45230638 WashU CCDC11 220136 genome.wustl.edu GRCh37 18 47788430 47788430 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398545.4:c.229A>T p.Ser77Cys p.S77C ENST00000398545 NM_145020.3 77 Agc/Tgc 0 Missense_Mutation T 55 CCDC11 SNP 18 T A 46042428 46042428 WashU PCNT 5116 genome.wustl.edu GRCh37 21 47851839 47851839 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000359568.5:c.8461C>T p.Gln2821Ter p.Q2821* ENST00000359568 NM_006031.5 2821 Cag/Tag 0 Nonsense_Mutation C 25 PCNT SNP 21 C T 46676267 46676267 WashU CPT1B 1375 genome.wustl.edu GRCh37 22 51011371 51011371 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360719.2:c.1285G>A p.Asp429Asn p.D429N ENST00000360719 NM_001145135.1 429 Gac/Aac 0 Missense_Mutation C 29 CPT1B SNP 22 C T 49358237 49358237 WashU C18orf54 162681 genome.wustl.edu GRCh37 18 51889233 51889233 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300091.5:c.682C>G p.Pro228Ala p.P228A ENST00000300091 NM_173529.4 228 Cct/Gct 0 Missense_Mutation C 30 C18orf54 SNP 18 C G 50143231 50143231 WashU CLHC1 130162 genome.wustl.edu GRCh37 2 55435838 55435838 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000401408.1:c.823G>C p.Gly275Arg p.G275R ENST00000401408 NM_152385.2 275 Ggc/Cgc 0 Missense_Mutation C 24 C2orf63 SNP 2 C G 55289342 55289342 WashU PCDH15 65217 genome.wustl.edu GRCh37 10 55955463 55955463 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361849.3:c.1285C>T p.Leu429= p.L429= ENST00000361849 NM_001142768.1 429 Ctg/Ttg 0 Silent G 33 PCDH15 SNP 10 G A 55625469 55625469 WashU PENK 5179 genome.wustl.edu GRCh37 8 57353863 57353863 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314922.3:c.772G>C p.Glu258Gln p.E258Q ENST00000314922 NM_006211.3 258 Gaa/Caa 0 Missense_Mutation C 30 PENK SNP 8 C G 57516417 57516417 WashU PCDH20 64881 genome.wustl.edu GRCh37 13 61986437 61986437 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409186.1:c.1795C>A p.Arg599= p.R599= ENST00000409186 599 Cga/Aga 0 Silent G 39 PCDH20 SNP 13 G T 60884438 60884438 WashU ARHGEF28 64283 genome.wustl.edu GRCh37 5 73142291 73142291 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 A A G G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000545377.1:c.1626A>G p.Leu542= p.L542= ENST00000545377 NM_001080479.2 542 ctA/ctG 0 Silent A 14 RGNEF SNP 5 G G 73178047 73178047 WashU C2orf78 388960 genome.wustl.edu GRCh37 2 74043138 74043138 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409561.1:c.1788A>G p.Val596= p.V596= ENST00000409561 NM_001080474.1 596 gtA/gtG 0 Silent A 15 C2orf78 SNP 2 A G 73896646 73896646 WashU MYCBP2 23077 genome.wustl.edu GRCh37 13 77754358 77754358 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000544440.2:c.4923A>C p.Arg1641Ser p.R1641S ENST00000544440 1641 agA/agC 0 Missense_Mutation T 54 MYCBP2 SNP 13 G G 76652359 76652359 WashU LPAR4 2846 genome.wustl.edu GRCh37 X 78011285 78011285 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000435339.3:c.919G>T p.Asp307Tyr p.D307Y ENST00000435339 NM_005296.2 307 Gac/Tac 0 Missense_Mutation G 45 LPAR4 SNP 23 G T 77897941 77897941 WashU PCLO 27445 genome.wustl.edu GRCh37 7 82546091 82546091 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333891.9:c.11211A>T p.Gln3737His p.Q3737H ENST00000333891 NM_033026.5 3737 caA/caT 0 Missense_Mutation T 52 PCLO SNP 7 T A 82384027 82384027 WashU SMYD1 150572 genome.wustl.edu GRCh37 2 88383883 88383883 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000419482.2:c.186C>G p.Leu62= p.L62= ENST00000419482 NM_198274.3 62 ctC/ctG 0 Silent C 30 SMYD1 SNP 2 C G 88164998 88164998 WashU TRIP11 9321 genome.wustl.edu GRCh37 14 92472684 92472684 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000267622.4:c.1636C>T p.Leu546Phe p.L546F ENST00000267622 NM_004239.3 546 Ctt/Ttt 0 Missense_Mutation G 36 TRIP11 SNP 14 G A 91542437 91542437 WashU TMEM131 23505 genome.wustl.edu GRCh37 2 98392471 98392471 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000186436.5:c.4155A>G p.Lys1385= p.K1385= ENST00000186436 NM_015348.1 1385 aaA/aaG 0 Silent T 60 TMEM131 SNP 2 T C 97758903 97758903 WashU GPR128 84873 genome.wustl.edu GRCh37 3 100368630 100368630 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273352.3:c.1358T>A p.Val453Asp p.V453D ENST00000273352 NM_032787.2 453 gTt/gAt 0 Missense_Mutation T 60 GPR128 SNP 3 T A 101851320 101851320 WashU GPR22 2845 genome.wustl.edu GRCh37 7 107114562 107114562 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000304402.4:c.57G>A p.Val19= p.V19= ENST00000304402 NM_005295.2 19 gtG/gtA 0 Silent G 46 GPR22 SNP 7 G A 106901798 106901798 WashU SH3RF3 344558 genome.wustl.edu GRCh37 2 109964171 109964171 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000309415.6:c.615C>T p.Tyr205= p.Y205= ENST00000309415 NM_001099289.1 205 taC/taT 0 Silent C 19 SH3RF3 SNP 2 C T 109330603 109330603 WashU CPED1 79974 genome.wustl.edu GRCh37 7 120768471 120768471 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310396.5:c.1338G>C p.Leu446= p.L446= ENST00000310396 NM_024913.4 446 ctG/ctC 0 Silent G 48 C7orf58 SNP 7 G C 120555707 120555707 WashU HEG1 57493 genome.wustl.edu GRCh37 3 124732833 124732833 + splice_region_variant,synonymous_variant Splice_Region SNP G G T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311127.4:c.1590C>A p.Ile530= p.I530= ENST00000311127 NM_020733.1 530 atC/atA 0 Silent G 37 HEG1 SNP 3 G T 126215523 126215523 WashU SETX 23064 genome.wustl.edu GRCh37 9 135221654 135221654 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000224140.5:c.382C>A p.Arg128Ser p.R128S ENST00000224140 NM_015046.5 128 Cgt/Agt 0 Missense_Mutation G 40 SETX SNP 9 G T 134211475 134211475 WashU PCDHB10 56126 genome.wustl.edu GRCh37 5 140574499 140574499 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000239446.4:c.2374C>T p.Arg792Ter p.R792* ENST00000239446 NM_018930.3 792 Cga/Tga 0 Nonsense_Mutation C 23 PCDHB10 SNP 5 C T 140554683 140554683 WashU SETD7 80854 genome.wustl.edu GRCh37 4 140432890 140432890 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274031.3:c.1028G>T p.Gly343Val p.G343V ENST00000274031 NM_030648.2 343 gGg/gTg 0 Missense_Mutation C 22 SETD7 SNP 4 C A 140652340 140652340 WashU EPHA1 2041 genome.wustl.edu GRCh37 7 143092230 143092230 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000275815.3:c.2129T>C p.Leu710Pro p.L710P ENST00000275815 NM_005232.4 710 cTg/cCg 0 Missense_Mutation A 7 EPHA1 SNP 7 A G 142802352 142802352 WashU INTS3 65123 genome.wustl.edu GRCh37 1 153742690 153742690 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318967.2:c.2406G>C p.Trp802Cys p.W802C ENST00000318967 NM_023015.3 802 tgG/tgC 0 Missense_Mutation G 43 INTS3 SNP 1 G C 152009314 152009314 WashU NUP210L 91181 genome.wustl.edu GRCh37 1 153995748 153995748 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368559.3:c.4148T>A p.Val1383Glu p.V1383E ENST00000368559 NM_207308.2 1383 gTg/gAg 0 Missense_Mutation A 6 NUP210L SNP 1 A T 152262372 152262372 WashU BCHE 590 genome.wustl.edu GRCh37 3 165547408 165547408 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264381.3:c.1414T>C p.Phe472Leu p.F472L ENST00000264381 NM_000055.2 472 Ttt/Ctt 0 Missense_Mutation A 4 BCHE SNP 3 G G 167030102 167030102 WashU FAM171B 165215 genome.wustl.edu GRCh37 2 187627428 187627428 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304698.5:c.2359G>A p.Glu787Lys p.E787K ENST00000304698 NM_177454.3 787 Gaa/Aaa 0 Missense_Mutation G 45 FAM171B SNP 2 G A 187335673 187335673 WashU FAT1 2195 genome.wustl.edu GRCh37 4 187630466 187630466 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000441802.2:c.516C>T p.Ser172= p.S172= ENST00000441802 NM_005245.3 172 agC/agT 0 Silent G 38 FAT1 SNP 4 A A 187867460 187867460 WashU BRINP3 339479 genome.wustl.edu GRCh37 1 190203607 190203607 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367462.3:c.619G>A p.Val207Ile p.V207I ENST00000367462 NM_199051.1 207 Gta/Ata 0 Missense_Mutation C 18 FAM5C SNP 1 C T 188470230 188470230 WashU INPP1 3628 genome.wustl.edu GRCh37 2 191233921 191233921 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392329.2:c.559G>T p.Gly187Cys p.G187C ENST00000392329 NM_001128928.1 187 Ggt/Tgt 0 Missense_Mutation G 47 INPP1 SNP 2 G T 190942166 190942166 WashU SLC30A1 7779 genome.wustl.edu GRCh37 1 211749372 211749372 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367001.4:c.882T>G p.Phe294Leu p.F294L ENST00000367001 NM_021194.2 294 ttT/ttG 0 Missense_Mutation A 5 SLC30A1 SNP 1 A C 209815995 209815995 WashU ITPKB 3707 genome.wustl.edu GRCh37 1 226923596 226923596 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000429204.1:c.1564C>T p.Arg522Cys p.R522C ENST00000429204 NM_002221.3 522 Cgt/Tgt 0 Missense_Mutation G 38 ITPKB SNP 1 G A 224990219 224990219 WashU NLRP3 114548 genome.wustl.edu GRCh37 1 247582273 247582273 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336119.3:c.177C>G p.Ile59Met p.I59M ENST00000336119 NM_001127462.2 59 atC/atG 0 Missense_Mutation C 31 NLRP3 SNP 1 C G 245648896 245648896 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577501 7577501 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G - G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.780del p.Ser261ValfsTer84 p.S261Vfs*84 ENST00000269305 NM_001126112.2 260 tcC/tc 0 Frame_Shift_Del G 47 TP53 DEL 17 G - 7518226 7518226 WashU NF1 4763 genome.wustl.edu GRCh37 17 29661888 29661906 + frameshift_variant Frame_Shift_Del DEL ATGACTCCATGGCTGTCAA ATGACTCCATGGCTGTCAA - novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 ATGACTCCATGGCTGTCAA ATGACTCCATGGCTGTCAA ATGACTCCATGGCTGTCAA - ATGACTCCATGGCTGTCAA ATGACTCCATGGCTGTCAA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358273.4:c.5847_5865del p.Met1949IlefsTer2 p.M1949Ifs*2 ENST00000358273 NM_001042492.2 1949 ATGACTCCATGGCTGTCAAat/at 0 Frame_Shift_Del ATGACTCCATGGCTGTCAA 8 NF1 DEL 17 ATGACTCCATGGCTGTCAA - 26686032 26686014 WashU DLG5 9231 genome.wustl.edu GRCh37 10 79601711 79601725 + inframe_deletion In_Frame_Del DEL CAGCTCCACTTCGGT CAGCTCCACTTCGGT - novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 CAGCTCCACTTCGGT CAGCTCCACTTCGGT CAGCTCCACTTCGGT - CAGCTCCACTTCGGT CAGCTCCACTTCGGT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372391.2:c.1351_1365del p.Thr451_Leu455del p.T451_L455del ENST00000372391 NM_004747.3 451 ACCGAAGTGGAGCTG/- 0 In_Frame_Del CAGCTCCACTTCGGT 21 DLG5 DEL 10 CAGCTCCACTTCGGT - 79271731 79271717 WashU BRCA1 672 genome.wustl.edu GRCh37 17 41219669 41219672 + frameshift_variant Frame_Shift_Del DEL GTTA GTTA - novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 GTTA - GTTA - GTTA - Unknown Valid Germline Phase_III Capture 454_PCR_WGA;Sanger_PCR_WGA dbGAP Illumina GAIIx ENST00000357654.3:c.5030_5033del p.Thr1677IlefsTer2 p.T1677Ifs*2 ENST00000357654 NM_007294.3 1676 tTAACt/tt 0 Frame_Shift_Del GTTA 36 BRCA1 DEL 17 GTTA - 38473198 38473195 WashU BAI2 576 genome.wustl.edu GRCh37 1 32221992 32221992 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373658.3:c.446C>A p.Thr149Asn p.T149N ENST00000373658 NM_001703.2 149 aCc/aAc 0 Missense_Mutation G 44 BAI2 SNP 1 G T 31994579 31994579 WashU OR8H2 390151 genome.wustl.edu GRCh37 11 55872963 55872963 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313503.1:c.445T>G p.Tyr149Asp p.Y149D ENST00000313503 NM_001005200.1 149 Tat/Gat 0 Missense_Mutation T 61 OR8H2 SNP 11 T G 55629539 55629539 WashU FGF23 8074 genome.wustl.edu GRCh37 12 4479676 4479676 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000237837.1:c.589G>A p.Ala197Thr p.A197T ENST00000237837 NM_020638.2 197 Gcc/Acc 0 Missense_Mutation C 26 FGF23 SNP 12 C T 4349937 4349937 WashU HEATR3 55027 genome.wustl.edu GRCh37 16 50109495 50109495 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299192.7:c.636G>T p.Gln212His p.Q212H ENST00000299192 NM_182922.2 212 caG/caT 0 Missense_Mutation G 33 HEATR3 SNP 16 G T 48666996 48666996 WashU ZNF91 7644 genome.wustl.edu GRCh37 19 23545269 23545269 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300619.7:c.512G>C p.Arg171Thr p.R171T ENST00000300619 NM_003430.2 171 aGa/aCa 0 Missense_Mutation C 32 ZNF91 SNP 19 C G 23337109 23337109 WashU TRANK1 9881 genome.wustl.edu GRCh37 3 36897212 36897212 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000429976.2:c.3869T>C p.Met1290Thr p.M1290T ENST00000429976 1290 aTg/aCg 0 Missense_Mutation A 8 TRANK1 SNP 3 A G 36872216 36872216 WashU NBEAL2 23218 genome.wustl.edu GRCh37 3 47050489 47050489 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000450053.3:c.8038G>A p.Ala2680Thr p.A2680T ENST00000450053 NM_015175.2 2680 Gcc/Acc 0 Missense_Mutation G 42 NBEAL2 SNP 3 G A 47025493 47025493 WashU DNAH5 1767 genome.wustl.edu GRCh37 5 13807741 13807741 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265104.4:c.7846A>G p.Ser2616Gly p.S2616G ENST00000265104 NM_001369.2 2616 Agt/Ggt 0 Missense_Mutation T 54 DNAH5 SNP 5 C C 13860741 13860741 WashU HIVEP1 3096 genome.wustl.edu GRCh37 6 12122774 12122774 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379388.2:c.2746G>A p.Gly916Arg p.G916R ENST00000379388 NM_002114.2 916 Gga/Aga 0 Missense_Mutation G 47 HIVEP1 SNP 6 G A 12230760 12230760 WashU MXRA5 25878 genome.wustl.edu GRCh37 X 3241268 3241268 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000217939.6:c.2458C>T p.Pro820Ser p.P820S ENST00000217939 NM_015419.3 820 Cct/Tct 0 Missense_Mutation G 44 MXRA5 SNP 23 G A 3251268 3251268 WashU UBQLN2 29978 genome.wustl.edu GRCh37 X 56591172 56591172 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01 TCGA-24-1470-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338222.5:c.866G>T p.Gly289Val p.G289V ENST00000338222 NM_013444.3 289 gGt/gTt 0 Missense_Mutation G 44 UBQLN2 SNP 23 G T 56607897 56607897 WashU MTOR 2475 broad.mit.edu GRCh37 1 11319346 11319346 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000361445.4:c.121G>T p.Ala41Ser p.A41S ENST00000361445 NM_004958.3 41 Gcc/Tcc 0 Missense_Mutation C 27 MTOR SNP 1 C A 11241933 11241933 Broad ZRANB2 9406 broad.mit.edu GRCh37 1 71532487 71532487 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000370920.3:c.901A>T p.Arg301Ter p.R301* ENST00000370920 NM_203350.2 301 Aga/Tga 0 Nonsense_Mutation T 56 ZRANB2 SNP 1 T A 71305075 71305075 Broad WDR63 126820 broad.mit.edu GRCh37 1 85538768 85538768 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000294664.6:c.96G>C p.Glu32Asp p.E32D ENST00000294664 NM_145172.3 32 gaG/gaC 0 Missense_Mutation G 33 WDR63 SNP 1 G C 85311356 85311356 Broad PHGDH 26227 broad.mit.edu GRCh37 1 120284484 120284484 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369409.4:c.1173G>A p.Val391= p.V391= ENST00000369409 NM_006623.3 391 gtG/gtA 0 Silent G 45 PHGDH SNP 1 G A 120086007 120086007 Broad ITGB1 3688 broad.mit.edu GRCh37 10 33209233 33209233 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000396033.2:c.1209C>T p.Asn403= p.N403= ENST00000396033 NM_133376.2 403 aaC/aaT 0 Silent G 40 ITGB1 SNP 10 G A 33249239 33249239 Broad PHRF1 57661 broad.mit.edu GRCh37 11 606502 606502 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000416188.2:c.1512G>T p.Leu504= p.L504= ENST00000416188 504 ctG/ctT 0 Silent G 46 PHRF1 SNP 11 G T 596502 596502 Broad MRGPRE 116534 broad.mit.edu GRCh37 11 3249990 3249990 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000436689.2:c.37G>A p.Ala13Thr p.A13T ENST00000436689 NM_001039165.2 13 Gcc/Acc 0 Missense_Mutation C 27 MRGPRE SNP 11 C T 3206566 3206566 Broad OR5F1 338674 broad.mit.edu GRCh37 11 55762043 55762043 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000278409.1:c.59C>T p.Thr20Met p.T20M ENST00000278409 NM_003697.1 20 aCg/aTg 0 Missense_Mutation G 40 OR5F1 SNP 11 G A 55518619 55518619 Broad STIP1 10963 broad.mit.edu GRCh37 11 63971532 63971532 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000305218.4:c.1566A>T p.Leu522Phe p.L522F ENST00000305218 NM_006819.2 522 ttA/ttT 0 Missense_Mutation A 13 STIP1 SNP 11 A T 63728108 63728108 Broad C11orf65 160140 broad.mit.edu GRCh37 11 108277839 108277839 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000393084.1:c.212G>A p.Arg71Gln p.R71Q ENST00000393084 NM_152587.3 71 cGa/cAa 0 Missense_Mutation C 31 C11orf65 SNP 11 C T 107783049 107783049 Broad GRIK4 2900 broad.mit.edu GRCh37 11 120776148 120776148 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000527524.2:c.1422C>T p.Gly474= p.G474= ENST00000527524 NM_001282470.1 474 ggC/ggT 0 Silent C 27 GRIK4 SNP 11 C T 120281358 120281358 Broad NINJ2 4815 broad.mit.edu GRCh37 12 674564 674564 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000305108.4:c.404G>A p.Arg135Gln p.R135Q ENST00000305108 NM_016533.4 135 cGg/cAg 0 Missense_Mutation C 23 NINJ2 SNP 12 C T 544825 544825 Broad CD163L1 283316 broad.mit.edu GRCh37 12 7531634 7531634 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000313599.3:c.2311C>T p.Arg771Ter p.R771* ENST00000313599 771 Cga/Tga 0 Nonsense_Mutation G 40 CD163L1 SNP 12 G A 7422901 7422901 Broad LEMD3 23592 broad.mit.edu GRCh37 12 65563516 65563516 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000308330.2:c.140G>A p.Arg47Gln p.R47Q ENST00000308330 NM_014319.4 47 cGa/cAa 0 Missense_Mutation G 37 LEMD3 SNP 12 G A 63849783 63849783 Broad GLIPR1L2 144321 broad.mit.edu GRCh37 12 75816731 75816731 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000550916.1:c.632G>A p.Arg211Gln p.R211Q ENST00000550916 NM_001270396.1 211 cGa/cAa 0 Missense_Mutation G 37 GLIPR1L2 SNP 12 G A 74102998 74102998 Broad TMEM132D 121256 broad.mit.edu GRCh37 12 129559049 129559049 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000422113.2:c.2671C>T p.Gln891Ter p.Q891* ENST00000422113 NM_133448.2 891 Cag/Tag 0 Nonsense_Mutation G 47 TMEM132D SNP 12 G A 128125002 128125002 Broad PROSER1 80209 broad.mit.edu GRCh37 13 39587390 39587390 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000352251.3:c.1999A>G p.Ser667Gly p.S667G ENST00000352251 NM_025138.4 667 Agt/Ggt 0 Missense_Mutation T 54 C13orf23 SNP 13 T C 38485390 38485390 Broad ANGEL1 23357 broad.mit.edu GRCh37 14 77275692 77275692 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000251089.2:c.359C>T p.Ala120Val p.A120V ENST00000251089 NM_015305.3 120 gCa/gTa 0 Missense_Mutation G 46 ANGEL1 SNP 14 G A 76345445 76345445 Broad DIO3 1735 broad.mit.edu GRCh37 14 102028297 102028297 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000510508.4:c.464C>T p.Ala155Val p.A155V ENST00000510508 155 gCg/gTg 0 Missense_Mutation C 27 DIO3 SNP 14 C T 101098050 101098050 Broad SRL 6345 broad.mit.edu GRCh37 16 4254547 4254547 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000399609.3:c.150C>T p.Ser50= p.S50= ENST00000399609 NM_001098814.1 50 tcC/tcT 0 Silent G 39 SRL SNP 16 G A 4194548 4194548 Broad MIB1 57534 broad.mit.edu GRCh37 18 19395664 19395664 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000261537.6:c.1567T>G p.Leu523Val p.L523V ENST00000261537 NM_020774.3 523 Ttg/Gtg 0 Missense_Mutation T 64 MIB1 SNP 18 T G 17649662 17649662 Broad KCNS3 3790 broad.mit.edu GRCh37 2 18112778 18112778 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000403915.1:c.503G>A p.Arg168Gln p.R168Q ENST00000403915 NM_001282428.1 168 cGg/cAg 0 Missense_Mutation G 39 KCNS3 SNP 2 G A 17976259 17976259 Broad TTN 7273 broad.mit.edu GRCh37 2 179641544 179641544 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000589042.1:c.5047C>T p.Arg1683Ter p.R1683* ENST00000589042 NM_001267550.1 1683 Cga/Tga 0 Nonsense_Mutation G 38 TTN SNP 2 G A 179349789 179349789 Broad SULF2 55959 broad.mit.edu GRCh37 20 46301069 46301069 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000359930.4:c.1449G>A p.Leu483= p.L483= ENST00000359930 NM_018837.3 483 ctG/ctA 0 Silent C 21 SULF2 SNP 20 C T 45734476 45734476 Broad ATP9A 10079 broad.mit.edu GRCh37 20 50224099 50224099 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000338821.5:c.2770T>G p.Phe924Val p.F924V ENST00000338821 NM_006045.1 924 Ttc/Gtc 0 Missense_Mutation A 4 ATP9A SNP 20 A C 49657506 49657506 Broad EPHB1 2047 broad.mit.edu GRCh37 3 134851574 134851574 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000398015.3:c.980G>A p.Arg327His p.R327H ENST00000398015 NM_004441.4 327 cGc/cAc 0 Missense_Mutation G 38 EPHB1 SNP 3 G A 136334264 136334264 Broad MFAP3L 9848 broad.mit.edu GRCh37 4 170913402 170913402 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000361618.3:c.357C>A p.Asp119Glu p.D119E ENST00000361618 NM_021647.6 119 gaC/gaA 0 Missense_Mutation G 44 MFAP3L SNP 4 G T 171149977 171149977 Broad SLC6A18 348932 broad.mit.edu GRCh37 5 1232360 1232360 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000324642.3:c.187G>A p.Ala63Thr p.A63T ENST00000324642 NM_182632.2 63 Gcg/Acg 0 Missense_Mutation G 38 SLC6A18 SNP 5 G A 1285360 1285360 Broad PRDM9 56979 broad.mit.edu GRCh37 5 23526345 23526345 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 C G C C Unknown Valid Somatic x x 454_PCR_WGA x ENST00000296682.3:c.1148C>G p.Pro383Arg p.P383R ENST00000296682 NM_020227.2 383 cCa/cGa 0 Missense_Mutation C 21 PRDM9 SNP 5 C G 23562102 23562102 Broad ZFP57 346171 broad.mit.edu GRCh37 6 29640604 29640604 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000488757.1:c.1284C>T p.Val428= p.V428= ENST00000488757 NM_001109809.2 428 gtC/gtT 0 Silent G 45 ZFP57 SNP 6 G A 29748583 29748583 Broad VWA7 80737 broad.mit.edu GRCh37 6 31734090 31734090 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000375688.4:c.2256G>A p.Ser752= p.S752= ENST00000375688 752 tcG/tcA 0 Silent C 23 C6orf27 SNP 6 C T 31842069 31842069 Broad CENPQ 55166 broad.mit.edu GRCh37 6 49448716 49448716 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000335783.3:c.400T>G p.Leu134Val p.L134V ENST00000335783 NM_018132.3 134 Tta/Gta 0 Missense_Mutation T 64 CENPQ SNP 6 T G 49556675 49556675 Broad CHN2 1124 broad.mit.edu GRCh37 7 29546871 29546871 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000222792.6:c.1019A>T p.Asn340Ile p.N340I ENST00000222792 NM_004067.2 340 aAt/aTt 0 Missense_Mutation A 4 CHN2 SNP 7 A T 29513396 29513396 Broad RSBN1L 222194 broad.mit.edu GRCh37 7 77325800 77325800 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000334955.8:c.14C>T p.Pro5Leu p.P5L ENST00000334955 NM_198467.2 5 cCg/cTg 0 Missense_Mutation C 23 RSBN1L SNP 7 C T 77163736 77163736 Broad TNFRSF10A 8797 broad.mit.edu GRCh37 8 23060238 23060238 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000221132.3:c.440G>A p.Arg147Gln p.R147Q ENST00000221132 NM_003844.3 147 cGg/cAg 0 Missense_Mutation C 23 TNFRSF10A SNP 8 C T 23116183 23116183 Broad SLC25A51 92014 broad.mit.edu GRCh37 9 37888379 37888379 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown x x x ENST00000377716.2:c.169C>T p.Arg57Ter p.R57* ENST00000377716 57 Cga/Tga 0 Nonsense_Mutation G 37 MCART1 SNP 9 G A 37878379 37878379 Broad PRPF4 9128 broad.mit.edu GRCh37 9 116053834 116053834 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000374198.4:c.1463T>A p.Leu488Gln p.L488Q ENST00000374198 NM_001244926.1 488 cTg/cAg 0 Missense_Mutation T 55 PRPF4 SNP 9 T A 115093655 115093655 Broad COL5A1 1289 broad.mit.edu GRCh37 9 137716496 137716496 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000371817.3:c.4749G>A p.Thr1583= p.T1583= ENST00000371817 NM_001278074.1 1583 acG/acA 0 Silent G 38 COL5A1 SNP 9 G A 136856317 136856317 Broad TP53 7157 broad.mit.edu GRCh37 17 7579547 7579547 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.140del p.Pro47ArgfsTer76 p.P47Rfs*76 ENST00000269305 NM_001126112.2 47 cCg/cg 0 Frame_Shift_Del G 39 TP53 DEL 17 G - 7520272 7520272 Broad CEACAM18 729767 broad.mit.edu GRCh37 19 51983818 51983819 + frameshift_variant Frame_Shift_Del DEL AC AC - novel Unknown TCGA-25-1329-01 TCGA-25-1329-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000451626.1:c.468_469del p.Asn156LysfsTer14 p.N156Kfs*14 ENST00000451626 156 aAC/a 0 Frame_Shift_Del AC 2 CEACAM18 DEL 19 - AC 56675631 56675630 Broad LEPRE1 64175 broad.mit.edu GRCh37 1 43220616 43220616 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000236040.4:c.1269C>A p.Asn423Lys p.N423K ENST00000236040 NM_001243246.1 423 aaC/aaA 0 Missense_Mutation G 44 LEPRE1 SNP 1 G T 42993203 42993203 Broad LRRC7 57554 broad.mit.edu GRCh37 1 70502241 70502241 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000035383.5:c.2108G>C p.Arg703Pro p.R703P ENST00000035383 NM_020794.2 703 cGg/cCg 0 Missense_Mutation G 39 LRRC7 SNP 1 G C 70274829 70274829 Broad ASTN1 460 broad.mit.edu GRCh37 1 177000081 177000081 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000361833.2:c.873C>A p.Asp291Glu p.D291E ENST00000361833 291 gaC/gaA 0 Missense_Mutation G 48 ASTN1 SNP 1 G T 175266704 175266704 Broad OBSCN 84033 broad.mit.edu GRCh37 1 228509746 228509746 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000570156.2:c.18075C>A p.Ala6025= p.A6025= ENST00000570156 NM_001271223.2 6025 gcC/gcA 0 Silent C 22 OBSCN SNP 1 C A 226576369 226576369 Broad HIST3H2A 92815 broad.mit.edu GRCh37 1 228645228 228645228 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000366695.2:c.291G>A p.Leu97= p.L97= ENST00000366695 NM_033445.2 97 ctG/ctA 0 Silent C 25 HIST3H2A SNP 1 C T 226711851 226711851 Broad RYR2 6262 broad.mit.edu GRCh37 1 237947294 237947294 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000366574.2:c.12282C>T p.Ile4094= p.I4094= ENST00000366574 NM_001035.2 4094 atC/atT 0 Silent C 31 RYR2 SNP 1 C T 236013917 236013917 Broad OR2M2 391194 broad.mit.edu GRCh37 1 248343304 248343304 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000359682.2:c.17A>G p.Gln6Arg p.Q6R ENST00000359682 NM_001004688.1 6 cAg/cGg 0 Missense_Mutation A 7 OR2M2 SNP 1 A G 246409927 246409927 Broad C10orf113 10529 broad.mit.edu GRCh37 10 21435304 21435304 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000534331.1:c.134G>C p.Cys45Ser p.C45S ENST00000534331 NM_001010896.2 45 tGt/tCt 0 Missense_Mutation C 17 C10orf113 SNP 10 C G 21475310 21475310 Broad ARID5B 84159 broad.mit.edu GRCh37 10 63850715 63850715 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000279873.7:c.1493A>T p.Glu498Val p.E498V ENST00000279873 NM_032199.2 498 gAa/gTa 0 Missense_Mutation A 9 ARID5B SNP 10 A T 63520721 63520721 Broad NLRP14 338323 broad.mit.edu GRCh37 11 7071013 7071013 + synonymous_variant Silent SNP A A T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000299481.4:c.2235A>T p.Gly745= p.G745= ENST00000299481 NM_176822.3 745 ggA/ggT 0 Silent A 11 NLRP14 SNP 11 A T 7027589 7027589 Broad FNBP4 23360 broad.mit.edu GRCh37 11 47755636 47755636 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000263773.5:c.1627T>G p.Phe543Val p.F543V ENST00000263773 NM_015308.2 543 Ttt/Gtt 0 Missense_Mutation A 2 FNBP4 SNP 11 A C 47712212 47712212 Broad BARX2 8538 broad.mit.edu GRCh37 11 129306818 129306818 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000281437.4:c.360G>T p.Glu120Asp p.E120D ENST00000281437 NM_003658.4 120 gaG/gaT 0 Missense_Mutation G 36 BARX2 SNP 11 G T 128812028 128812028 Broad COPS7A 50813 broad.mit.edu GRCh37 12 6838552 6838552 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000543155.1:c.467A>G p.Tyr156Cys p.Y156C ENST00000543155 NM_001164094.1 156 tAc/tGc 0 Missense_Mutation A 14 COPS7A SNP 12 A G 6708813 6708813 Broad CD163 9332 broad.mit.edu GRCh37 12 7640087 7640087 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000359156.4:c.1918A>G p.Lys640Glu p.K640E ENST00000359156 NM_004244.5 640 Aaa/Gaa 0 Missense_Mutation T 64 CD163 SNP 12 T C 7531354 7531354 Broad DDX47 51202 broad.mit.edu GRCh37 12 12974601 12974601 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000358007.3:c.383G>T p.Gly128Val p.G128V ENST00000358007 NM_016355.3 128 gGt/gTt 0 Missense_Mutation G 44 DDX47 SNP 12 G T 12865868 12865868 Broad C12orf40 283461 broad.mit.edu GRCh37 12 40076823 40076823 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000324616.5:c.1097G>T p.Ser366Ile p.S366I ENST00000324616 NM_001031748.2 366 aGt/aTt 0 Missense_Mutation G 36 C12orf40 SNP 12 G T 38363090 38363090 Broad C12orf40 283461 broad.mit.edu GRCh37 12 40114805 40114805 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000324616.5:c.1711T>G p.Cys571Gly p.C571G ENST00000324616 NM_001031748.2 571 Tgc/Ggc 0 Missense_Mutation T 59 C12orf40 SNP 12 T G 38401072 38401072 Broad KRT79 338785 broad.mit.edu GRCh37 12 53227730 53227730 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000330553.5:c.315T>A p.Phe105Leu p.F105L ENST00000330553 NM_175834.2 105 ttT/ttA 0 Missense_Mutation A 5 KRT79 SNP 12 A T 51513997 51513997 Broad LRRIQ1 84125 broad.mit.edu GRCh37 12 85500303 85500303 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000393217.2:c.3287T>C p.Leu1096Pro p.L1096P ENST00000393217 NM_001079910.1 1096 cTt/cCt 0 Missense_Mutation T 56 LRRIQ1 SNP 12 T C 84024434 84024434 Broad RPH3A 22895 broad.mit.edu GRCh37 12 113285632 113285632 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000389385.4:c.215A>T p.Glu72Val p.E72V ENST00000389385 NM_001143854.1 72 gAg/gTg 0 Missense_Mutation A 11 RPH3A SNP 12 A T 111770015 111770015 Broad CIT 11113 broad.mit.edu GRCh37 12 120151400 120151400 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000392521.2:c.4360G>A p.Gly1454Ser p.G1454S ENST00000392521 NM_001206999.1 1454 Ggc/Agc 0 Missense_Mutation C 23 CIT SNP 12 C T 118635783 118635783 Broad DIABLO 56616 broad.mit.edu GRCh37 12 122693103 122693103 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000443649.3:c.545C>A p.Thr182Asn p.T182N ENST00000443649 NM_019887.5 182 aCc/aAc 0 Missense_Mutation G 44 DIABLO SNP 12 G T 121259056 121259056 Broad PABPC3 5042 broad.mit.edu GRCh37 13 25671197 25671197 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000281589.3:c.861G>C p.Arg287Ser p.R287S ENST00000281589 NM_030979.2 287 agG/agC 0 Missense_Mutation G 41 PABPC3 SNP 13 G C 24569197 24569197 Broad GPR12 2835 broad.mit.edu GRCh37 13 27333719 27333719 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000405846.3:c.246A>G p.Leu82= p.L82= ENST00000405846 NM_005288.3 82 ctA/ctG 0 Silent T 61 GPR12 SNP 13 T C 26231719 26231719 Broad ESD 2098 broad.mit.edu GRCh37 13 47361169 47361169 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000378720.3:c.144G>T p.Leu48= p.L48= ENST00000378720 NM_001984.1 48 ctG/ctT 0 Silent C 17 ESD SNP 13 C A 46259170 46259170 Broad KLF5 688 broad.mit.edu GRCh37 13 73636580 73636580 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000377687.4:c.843G>T p.Met281Ile p.M281I ENST00000377687 NM_001730.3 281 atG/atT 0 Missense_Mutation G 46 KLF5 SNP 13 G T 72534581 72534581 Broad TEP1 7011 broad.mit.edu GRCh37 14 20851948 20851948 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000262715.5:c.3664C>A p.Leu1222Met p.L1222M ENST00000262715 NM_007110.4 1222 Ctg/Atg 0 Missense_Mutation G 33 TEP1 SNP 14 G T 19921788 19921788 Broad PNN 5411 broad.mit.edu GRCh37 14 39650221 39650221 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000216832.4:c.1308T>A p.Asp436Glu p.D436E ENST00000216832 NM_002687.3 436 gaT/gaA 0 Missense_Mutation T 49 PNN SNP 14 T A 38719972 38719972 Broad NAA30 122830 broad.mit.edu GRCh37 14 57858245 57858245 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000556492.1:c.570C>A p.Ser190= p.S190= ENST00000556492 NM_001011713.2 190 tcC/tcA 0 Silent C 22 NAA30 SNP 14 C A 56927998 56927998 Broad KIAA0586 9786 broad.mit.edu GRCh37 14 58938975 58938975 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000354386.6:c.2771A>G p.Asp924Gly p.D924G ENST00000354386 NM_001244189.1 924 gAt/gGt 0 Missense_Mutation A 12 KIAA0586 SNP 14 A G 58008728 58008728 Broad GPR176 11245 broad.mit.edu GRCh37 15 40093611 40093611 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000561100.1:c.1270C>A p.Pro424Thr p.P424T ENST00000561100 NM_007223.2 424 Ccc/Acc 0 Missense_Mutation G 44 GPR176 SNP 15 G T 37880903 37880903 Broad TYRO3 7301 broad.mit.edu GRCh37 15 41859592 41859592 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000263798.3:c.818C>G p.Ala273Gly p.A273G ENST00000263798 NM_006293.3 273 gCt/gGt 0 Missense_Mutation C 28 TYRO3 SNP 15 C G 39646884 39646884 Broad EPB42 2038 broad.mit.edu GRCh37 15 43498730 43498730 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000300215.3:c.1506C>G p.Ala502= p.A502= ENST00000300215 502 gcC/gcG 0 Silent G 47 EPB42 SNP 15 G C 41286022 41286022 Broad SPG11 80208 broad.mit.edu GRCh37 15 44952718 44952718 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000261866.7:c.354T>C p.Phe118= p.F118= ENST00000261866 NM_025137.3 118 ttT/ttC 0 Silent A 13 SPG11 SNP 15 A G 42740010 42740010 Broad SLC28A2 9153 broad.mit.edu GRCh37 15 45557851 45557851 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000347644.3:c.851T>C p.Val284Ala p.V284A ENST00000347644 NM_004212.3 284 gTa/gCa 0 Missense_Mutation T 57 SLC28A2 SNP 15 T C 43345143 43345143 Broad AQP9 366 broad.mit.edu GRCh37 15 58465355 58465355 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000219919.4:c.327G>C p.Gln109His p.Q109H ENST00000219919 NM_020980.3 109 caG/caC 0 Missense_Mutation G 36 AQP9 SNP 15 G C 56252647 56252647 Broad CLDN6 9074 broad.mit.edu GRCh37 16 3065620 3065620 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000396925.1:c.403C>G p.Pro135Ala p.P135A ENST00000396925 135 Ccc/Gcc 0 Missense_Mutation G 43 CLDN6 SNP 16 G C 3005621 3005621 Broad ADCY9 115 broad.mit.edu GRCh37 16 4016249 4016249 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000294016.3:c.3589A>G p.Met1197Val p.M1197V ENST00000294016 NM_001116.3 1197 Atg/Gtg 0 Missense_Mutation T 50 ADCY9 SNP 16 T C 3956250 3956250 Broad ZC3H7A 29066 broad.mit.edu GRCh37 16 11861400 11861400 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000396516.2:c.1395C>G p.Asn465Lys p.N465K ENST00000396516 465 aaC/aaG 0 Missense_Mutation G 48 ZC3H7A SNP 16 G C 11768901 11768901 Broad GDE1 51573 broad.mit.edu GRCh37 16 19528413 19528413 + synonymous_variant Silent SNP A A T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000353258.3:c.360T>A p.Thr120= p.T120= ENST00000353258 NM_016641.3 120 acT/acA 0 Silent A 7 GDE1 SNP 16 A T 19435914 19435914 Broad DNAH3 55567 broad.mit.edu GRCh37 16 21031085 21031085 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000261383.3:c.5883G>C p.Trp1961Cys p.W1961C ENST00000261383 NM_017539.1 1961 tgG/tgC 0 Missense_Mutation C 30 DNAH3 SNP 16 C G 20938586 20938586 Broad CNOT1 23019 broad.mit.edu GRCh37 16 58579273 58579273 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000317147.5:c.4129A>C p.Asn1377His p.N1377H ENST00000317147 NM_016284.4 1377 Aat/Cat 0 Missense_Mutation T 62 CNOT1 SNP 16 T G 57136774 57136774 Broad DLG4 1742 broad.mit.edu GRCh37 17 7097030 7097030 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000399510.2:c.1676G>A p.Arg559Gln p.R559Q ENST00000399510 NM_001365.3 559 cGa/cAa 0 Missense_Mutation C 31 DLG4 SNP 17 C T 7037754 7037754 Broad TEKT3 64518 broad.mit.edu GRCh37 17 15234415 15234415 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000395930.1:c.488A>T p.Glu163Val p.E163V ENST00000395930 NM_031898.2 163 gAg/gTg 0 Missense_Mutation T 54 TEKT3 SNP 17 T A 15175140 15175140 Broad GID4 79018 broad.mit.edu GRCh37 17 17962265 17962265 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000268719.4:c.690C>T p.Tyr230= p.Y230= ENST00000268719 NM_024052.4 230 taC/taT 0 Silent C 19 C17orf39 SNP 17 C T 17902990 17902990 Broad RHOT1 55288 broad.mit.edu GRCh37 17 30529839 30529839 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000358365.3:c.1252G>C p.Val418Leu p.V418L ENST00000358365 NM_001033568.1 418 Gtg/Ctg 0 Missense_Mutation G 48 RHOT1 SNP 17 G C 27553952 27553952 Broad GGNBP2 79893 broad.mit.edu GRCh37 17 34943520 34943520 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000304718.4:c.1735G>C p.Asp579His p.D579H ENST00000304718 NM_024835.4 579 Gat/Cat 0 Missense_Mutation G 33 GGNBP2 SNP 17 G C 32017633 32017633 Broad CCR10 2826 broad.mit.edu GRCh37 17 40832606 40832606 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000332438.4:c.54A>G p.Glu18= p.E18= ENST00000332438 NM_016602.2 18 gaA/gaG 0 Silent T 56 CCR10 SNP 17 T C 38086132 38086132 Broad KIF2B 84643 broad.mit.edu GRCh37 17 51901684 51901684 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000268919.4:c.1290G>C p.Gln430His p.Q430H ENST00000268919 NM_032559.4 430 caG/caC 0 Missense_Mutation G 33 KIF2B SNP 17 G C 49256683 49256683 Broad RNF213 57674 broad.mit.edu GRCh37 17 78319618 78319618 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000582970.1:c.7483A>C p.Ile2495Leu p.I2495L ENST00000582970 NM_001256071.1 2495 Ata/Cta 0 Missense_Mutation A 16 RNF213 SNP 17 A C 75934213 75934213 Broad CEP192 55125 broad.mit.edu GRCh37 18 13114130 13114130 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000506447.1:c.7169G>C p.Ser2390Thr p.S2390T ENST00000506447 NM_032142.3 2390 aGc/aCc 0 Missense_Mutation G 34 CEP192 SNP 18 G C 13104130 13104130 Broad DSG3 1830 broad.mit.edu GRCh37 18 29046617 29046617 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000257189.4:c.1536C>T p.Ser512= p.S512= ENST00000257189 NM_001944.2 512 tcC/tcT 0 Silent C 23 DSG3 SNP 18 C T 27300615 27300615 Broad RFX2 5990 broad.mit.edu GRCh37 19 6002737 6002737 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000303657.5:c.1645G>C p.Val549Leu p.V549L ENST00000303657 NM_000635.3 549 Gtg/Ctg 0 Missense_Mutation C 19 RFX2 SNP 19 C G 5953737 5953737 Broad CTXN1 404217 broad.mit.edu GRCh37 19 7990283 7990283 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000318978.4:c.141G>C p.Val47= p.V47= ENST00000318978 NM_206833.3 47 gtG/gtC 0 Silent C 25 CTXN1 SNP 19 C G 7896283 7896283 Broad MUC16 94025 broad.mit.edu GRCh37 19 9074946 9074946 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000397910.4:c.12500C>G p.Ala4167Gly p.A4167G ENST00000397910 NM_024690.2 4167 gCt/gGt 0 Missense_Mutation G 34 MUC16 SNP 19 G C 8935946 8935946 Broad PRKCSH 5589 broad.mit.edu GRCh37 19 11547013 11547013 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000252455.2:c.75C>T p.Leu25= p.L25= ENST00000252455 NM_002743.2 25 ctC/ctT 0 Silent C 29 PRKCSH SNP 19 C T 11408013 11408013 Broad PGLYRP2 114770 broad.mit.edu GRCh37 19 15579505 15579505 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000340880.4:c.1700C>A p.Pro567Gln p.P567Q ENST00000340880 NM_052890.3 567 cCa/cAa 0 Missense_Mutation G 47 PGLYRP2 SNP 19 G T 15440505 15440505 Broad C19orf55 148137 broad.mit.edu GRCh37 19 36255763 36255763 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000544099.1:c.552C>T p.His184= p.H184= ENST00000544099 184 caC/caT 0 Silent C 17 C19orf55 SNP 19 C T 40947603 40947603 Broad HKR1 284459 broad.mit.edu GRCh37 19 37853136 37853136 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000324411.4:c.439C>T p.Pro147Ser p.P147S ENST00000324411 NM_181786.2 147 Cct/Tct 0 Missense_Mutation C 30 HKR1 SNP 19 C T 42544976 42544976 Broad CATSPERG 57828 broad.mit.edu GRCh37 19 38861335 38861335 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000409235.3:c.3383C>T p.Ser1128Phe p.S1128F ENST00000409235 NM_021185.4 1128 tCt/tTt 0 Missense_Mutation C 32 CATSPERG SNP 19 C T 43553175 43553175 Broad CALM3 808 broad.mit.edu GRCh37 19 47112395 47112395 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000291295.9:c.435G>C p.Met145Ile p.M145I ENST00000291295 NM_005184.2 145 atG/atC 0 Missense_Mutation G 45 CALM3 SNP 19 G C 51804235 51804235 Broad LINC01939 101060385 broad.mit.edu GRCh37 2 905896 905896 + upstream_gene_variant 5'Flank SNP T T A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000445279 0 Missense_Mutation T 59 LOC391343 SNP 2 T A 895896 895896 Broad BIRC6 57448 broad.mit.edu GRCh37 2 32690187 32690187 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000421745.2:c.5311C>G p.Gln1771Glu p.Q1771E ENST00000421745 NM_016252.3 1771 Caa/Gaa 0 Missense_Mutation C 29 BIRC6 SNP 2 C G 32543691 32543691 Broad PUS10 150962 broad.mit.edu GRCh37 2 61180218 61180218 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000316752.6:c.1222G>T p.Glu408Ter p.E408* ENST00000316752 NM_144709.2 408 Gaa/Taa 0 Nonsense_Mutation C 32 PUS10 SNP 2 C A 61033722 61033722 Broad ADD2 119 broad.mit.edu GRCh37 2 70900428 70900428 + intron_variant Intron SNP C C G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000264436.4:c.1742-290G>C *581* ENST00000264436 NM_001617.3 0 Missense_Mutation C 18 ADD2 SNP 2 C G 70753936 70753936 Broad CNTNAP5 129684 broad.mit.edu GRCh37 2 125530421 125530421 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000431078.1:c.2576T>C p.Val859Ala p.V859A ENST00000431078 NM_130773.3 859 gTg/gCg 0 Missense_Mutation T 59 CNTNAP5 SNP 2 T C 125246891 125246891 Broad MYO7B 4648 broad.mit.edu GRCh37 2 128384886 128384886 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000428314.1:c.4382+1G>T p.X1461_splice ENST00000428314 NM_001080527.1 0 Splice_Site_SNP G 44 MYO7B SNP 2 G T 128101356 128101356 Broad MFSD6 54842 broad.mit.edu GRCh37 2 191301408 191301408 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000392328.1:c.653C>G p.Pro218Arg p.P218R ENST00000392328 NM_017694.3 218 cCa/cGa 0 Missense_Mutation C 21 MFSD6 SNP 2 C G 191009653 191009653 Broad CHPF 79586 broad.mit.edu GRCh37 2 220405747 220405748 + missense_variant Missense_Mutation DNP GG GG AT novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000243776.6:c.988_989delinsAT p.Pro330Ile p.P330I ENST00000243776 NM_024536.5 330 CCt/ATt 0 Missense_Mutation GG 35 CHPF DNP 2 GG AT 220113992 220113991 Broad PTMA 5757 broad.mit.edu GRCh37 2 232573422 232573422 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000341369.7:c.6A>G p.Ser2= p.S2= ENST00000341369 NM_001099285.1 2 tcA/tcG 0 Silent A 7 PTMA SNP 2 A G 232281666 232281666 Broad INPP5D 3635 broad.mit.edu GRCh37 2 233986823 233986823 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000359570.5:c.205G>A p.Glu69Lys p.E69K ENST00000359570 69 Gaa/Aaa 0 Missense_Mutation G 37 INPP5D SNP 2 G A 233695067 233695067 Broad UGT1A1 54658 broad.mit.edu GRCh37 2 234669456 234669456 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000305208.5:c.523C>T p.Leu175= p.L175= ENST00000305208 NM_000463.2 175 Ctg/Ttg 0 Silent C 20 UGT1A1 SNP 2 C T 234334195 234334195 Broad FARP2 9855 broad.mit.edu GRCh37 2 242396290 242396291 + synonymous_variant Silent DNP AG AG TC novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000264042.3:c.1540_1541delinsTC p.Ser514= p.S514= ENST00000264042 NM_014808.2 514 AGt/TCt 0 Silent AG 7 FARP2 DNP 2 AG TC 242044964 242044963 Broad DPM1 8813 broad.mit.edu GRCh37 20 49575039 49575039 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000371588.5:c.22C>A p.Arg8Ser p.R8S ENST00000371588 NM_003859.1 8 Cgt/Agt 0 Missense_Mutation G 37 DPM1 SNP 20 G T 49008446 49008446 Broad CTCFL 140690 broad.mit.edu GRCh37 20 56078560 56078560 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000423479.3:c.1772T>C p.Ile591Thr p.I591T ENST00000423479 NM_001269043.1 591 aTc/aCc 0 Missense_Mutation A 12 CTCFL SNP 20 A G 55511966 55511966 Broad OSBP2 23762 broad.mit.edu GRCh37 22 31091221 31091221 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000332585.6:c.325G>C p.Glu109Gln p.E109Q ENST00000332585 NM_030758.3 109 Gag/Cag 0 Missense_Mutation G 33 OSBP2 SNP 22 G C 29421221 29421221 Broad TMPRSS6 164656 broad.mit.edu GRCh37 22 37466555 37466555 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000346753.3:c.1837A>C p.Ile613Leu p.I613L ENST00000346753 NM_153609.2 613 Ata/Cta 0 Missense_Mutation T 50 TMPRSS6 SNP 22 T G 35796501 35796501 Broad SAMM50 25813 broad.mit.edu GRCh37 22 44371986 44371986 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000350028.4:c.700G>A p.Glu234Lys p.E234K ENST00000350028 NM_015380.4 234 Gaa/Aaa 0 Missense_Mutation G 33 SAMM50 SNP 22 G A 42703319 42703319 Broad LHFPL4 375323 broad.mit.edu GRCh37 3 9547805 9547805 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000287585.6:c.489G>A p.Thr163= p.T163= ENST00000287585 NM_198560.2 163 acG/acA 0 Silent C 23 LHFPL4 SNP 3 C T 9522805 9522805 Broad ATP2B2 491 broad.mit.edu GRCh37 3 10491053 10491053 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000360273.2:c.175C>T p.Arg59Cys p.R59C ENST00000360273 NM_001001331.2 59 Cgc/Tgc 0 Missense_Mutation G 38 ATP2B2 SNP 3 G A 10466053 10466053 Broad AZI2 64343 broad.mit.edu GRCh37 3 28380074 28380074 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000479665.1:c.249C>T p.Ser83= p.S83= ENST00000479665 NM_022461.4 83 tcC/tcT 0 Silent G 39 AZI2 SNP 3 G A 28355078 28355078 Broad NPHP3 27031 broad.mit.edu GRCh37 3 132433930 132433930 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000337331.5:c.956A>T p.Lys319Met p.K319M ENST00000337331 NM_153240.4 319 aAg/aTg 0 Missense_Mutation T 56 NPHP3 SNP 3 T A 133916620 133916620 Broad TSC22D2 9819 broad.mit.edu GRCh37 3 150127730 150127730 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000361875.3:c.593C>G p.Ser198Cys p.S198C ENST00000361875 NM_014779.2 198 tCc/tGc 0 Missense_Mutation C 30 TSC22D2 SNP 3 C G 151610420 151610420 Broad MUC4 4585 broad.mit.edu GRCh37 3 195516252 195516252 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000463781.3:c.2199C>G p.Ser733= p.S733= ENST00000463781 NM_018406.6 733 tcC/tcG 0 Silent G 47 MUC4 SNP 3 G C 197000647 197000647 Broad UGT2B10 7365 broad.mit.edu GRCh37 4 69682127 69682127 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265403.7:c.390T>C p.Val130= p.V130= ENST00000265403 NM_001075.4 130 gtT/gtC 0 Silent T 64 UGT2B10 SNP 4 T C 69716716 69716716 Broad PPP3CA 5530 broad.mit.edu GRCh37 4 102004363 102004363 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000394854.3:c.840C>G p.Ala280= p.A280= ENST00000394854 NM_000944.4 280 gcC/gcG 0 Silent G 43 PPP3CA SNP 4 G C 102223386 102223386 Broad PCDHGA12 26025 broad.mit.edu GRCh37 5 140812614 140812614 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000252085.3:c.2288C>T p.Ser763Leu p.S763L ENST00000252085 NM_003735.2 763 tCg/tTg 0 Missense_Mutation C 31 PCDHGA12 SNP 5 C T 140792798 140792798 Broad HIST1H3J 8356 broad.mit.edu GRCh37 6 27858544 27858544 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000359303.2:c.27C>G p.Arg9= p.R9= ENST00000359303 NM_003535.2 9 cgC/cgG 0 Silent G 46 HIST1H3J SNP 6 G C 27966523 27966523 Broad RPP21 79897 broad.mit.edu GRCh37 6 30314294 30314294 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000433076.2:c.351C>A p.Leu117= p.L117= ENST00000433076 NM_001199121.1 117 ctC/ctA 0 Silent C 32 RPP21 SNP 6 C A 30422273 30422273 Broad XPO5 57510 broad.mit.edu GRCh37 6 43492278 43492278 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265351.7:c.3408C>T p.Pro1136= p.P1136= ENST00000265351 NM_020750.2 1136 ccC/ccT 0 Silent G 35 XPO5 SNP 6 G A 43600256 43600256 Broad EYS 346007 broad.mit.edu GRCh37 6 66115118 66115118 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000503581.1:c.1005G>C p.Glu335Asp p.E335D ENST00000503581 NM_001142800.1 335 gaG/gaC 0 Missense_Mutation C 20 EYS SNP 6 C G 66171839 66171839 Broad IMPG1 3617 broad.mit.edu GRCh37 6 76660659 76660659 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000369950.3:c.1444C>T p.Pro482Ser p.P482S ENST00000369950 NM_001563.2 482 Ccc/Tcc 0 Missense_Mutation G 43 IMPG1 SNP 6 G A 76717379 76717379 Broad ELOVL4 6785 broad.mit.edu GRCh37 6 80631376 80631376 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000369816.4:c.507G>T p.Trp169Cys p.W169C ENST00000369816 NM_022726.3 169 tgG/tgT 0 Missense_Mutation C 18 ELOVL4 SNP 6 C A 80688095 80688095 Broad HTR1E 3354 broad.mit.edu GRCh37 6 87725323 87725323 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000305344.5:c.271G>C p.Gly91Arg p.G91R ENST00000305344 NM_000865.2 91 Ggg/Cgg 0 Missense_Mutation G 47 HTR1E SNP 6 G C 87782042 87782042 Broad TIAM2 26230 broad.mit.edu GRCh37 6 155458322 155458322 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000461783.3:c.1206C>A p.Ser402= p.S402= ENST00000461783 402 tcC/tcA 0 Silent C 21 TIAM2 SNP 6 C A 155500014 155500014 Broad CPVL 54504 broad.mit.edu GRCh37 7 29070326 29070326 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000409850.1:c.1187C>G p.Thr396Arg p.T396R ENST00000409850 396 aCa/aGa 0 Missense_Mutation G 48 CPVL SNP 7 G C 29036851 29036851 Broad UPP1 7378 broad.mit.edu GRCh37 7 48147874 48147874 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000331803.4:c.853C>T p.Arg285Cys p.R285C ENST00000331803 NM_001287426.1 285 Cgc/Tgc 0 Missense_Mutation C 31 UPP1 SNP 7 C T 48114399 48114399 Broad KIAA1324L 222223 broad.mit.edu GRCh37 7 86541404 86541404 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000450689.2:c.2153G>A p.Ser718Asn p.S718N ENST00000450689 NM_001142749.2 718 aGt/aAt 0 Missense_Mutation C 20 KIAA1324L SNP 7 C T 86379340 86379340 Broad CTTNBP2 83992 broad.mit.edu GRCh37 7 117386110 117386110 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000160373.3:c.3392G>C p.Ser1131Thr p.S1131T ENST00000160373 NM_033427.2 1131 aGc/aCc 0 Missense_Mutation C 28 CTTNBP2 SNP 7 C G 117173346 117173346 Broad IQUB 154865 broad.mit.edu GRCh37 7 123152133 123152133 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000466202.1:c.262G>T p.Val88Phe p.V88F ENST00000466202 NM_001282855.1 88 Gtt/Ttt 0 Missense_Mutation C 20 IQUB SNP 7 C A 122939369 122939369 Broad TTC26 79989 broad.mit.edu GRCh37 7 138831941 138831941 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000464848.1:c.450C>T p.Val150= p.V150= ENST00000464848 NM_001287513.1 150 gtC/gtT 0 Silent C 29 TTC26 SNP 7 C T 138482481 138482481 Broad DUSP4 1846 broad.mit.edu GRCh37 8 29203023 29203023 + intron_variant Intron SNP G G A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000240100.2:c.433+4340C>T *145* ENST00000240100 NM_001394.6 0 Silent G 40 DUSP4 SNP 8 G A 29258942 29258942 Broad ZFPM2 23414 broad.mit.edu GRCh37 8 106813579 106813579 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000407775.2:c.1269C>G p.Ser423Arg p.S423R ENST00000407775 NM_012082.3 423 agC/agG 0 Missense_Mutation C 26 ZFPM2 SNP 8 C G 106882755 106882755 Broad SLA 6503 broad.mit.edu GRCh37 8 134072434 134072434 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000427060.2:c.92C>T p.Ser31Leu p.S31L ENST00000427060 NM_006748.3 31 tCa/tTa 0 Missense_Mutation G 45 SLA SNP 8 G A 134141616 134141616 Broad CNTFR 1271 broad.mit.edu GRCh37 9 34564662 34564662 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000378980.3:c.254G>C p.Gly85Ala p.G85A ENST00000378980 NM_147164.2 85 gGc/gCc 0 Missense_Mutation C 26 CNTFR SNP 9 C G 34554662 34554662 Broad TLN1 7094 broad.mit.edu GRCh37 9 35699450 35699450 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000314888.9:c.6777G>T p.Gln2259His p.Q2259H ENST00000314888 NM_006289.3 2259 caG/caT 0 Missense_Mutation C 32 TLN1 SNP 9 C A 35689450 35689450 Broad SMC5 23137 broad.mit.edu GRCh37 9 72939036 72939036 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000361138.5:c.2374T>C p.Ser792Pro p.S792P ENST00000361138 NM_015110.3 792 Tct/Cct 0 Missense_Mutation T 50 SMC5 SNP 9 T C 72128856 72128856 Broad RGS3 5998 broad.mit.edu GRCh37 9 116224456 116224456 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000374140.2:c.390C>T p.Ile130= p.I130= ENST00000374140 NM_144488.5 130 atC/atT 0 Silent C 29 RGS3 SNP 9 C T 115264277 115264277 Broad SUPT20HL2 347438 broad.mit.edu GRCh37 X 24329672 24329672 + non_coding_transcript_exon_variant RNA SNP A A C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000536351.1:n.1761T>G *587* ENST00000536351 0 Silent A 1 FAM48B2 SNP 23 A C 24239593 24239593 Broad ZCCHC5 203430 broad.mit.edu GRCh37 X 77913139 77913139 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000321110.1:c.779G>C p.Ser260Thr p.S260T ENST00000321110 NM_152694.2 260 aGt/aCt 0 Missense_Mutation C 20 ZCCHC5 SNP 23 C G 77799795 77799795 Broad RPL10 6134 broad.mit.edu GRCh37 X 153629100 153629100 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown x x x ENST00000424325.2:c.550A>C p.Met184Leu p.M184L ENST00000424325 NM_006013.3 184 Atg/Ctg 0 Missense_Mutation A 8 RPL10 SNP 23 A C 153282294 153282294 Broad TP53 7157 broad.mit.edu GRCh37 17 7577514 7577522 + inframe_deletion In_Frame_Del DEL GTGATGATG GTGATGATG - novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.759_767del p.Ile254_Thr256del p.I254_T256del ENST00000269305 NM_001126112.2 253 acCATCATCACa/aca 0 In_Frame_Del GTGATGATG 48 TP53 DEL 17 GTGATGATG - 7518247 7518239 Broad PSAT1 29968 broad.mit.edu GRCh37 9 80943096 80943102 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL AGGGCAT AGGGCAT - novel Unknown TCGA-23-1031-01 TCGA-23-1031-10 - AGGGCAT AGGGCAT AGGGCAT Unknown Valid Somatic Phase_I Capture Illumina GAIIx ENST00000376588.3:c.1002_1007+1del KGH333fs ENST00000376588 NM_058179.3 333 aaAGGGCAT/aa 0 Frame_Shift_Del AGGGCAT 3 PSAT1 DEL 9 - AGGGCAT 80132922 80132916 Broad BFAR 51283 hgsc.bcm.edu GRCh37 16 14749040 14749041 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-36-1569-01 TCGA-36-1569-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261658.2:c.763dupC p.Gln255ProfsTer7 p.Q255Pfs*7 ENST00000261658 NM_016561.2 252 -/C 0 Frame_Shift_Ins - 34 BFAR INS 16 - C 14656542 14656541 Baylor CPXM2 119587 hgsc.bcm.edu GRCh37 10 125539716 125539716 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-36-1569-01 TCGA-36-1569-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000241305.3:c.945T>G p.Asp315Glu p.D315E ENST00000241305 NM_198148.2 315 gaT/gaG 0 Missense_Mutation A 4 CPXM2 SNP 10 A C 125529706 125529706 Baylor EIF2S3 1968 hgsc.bcm.edu GRCh37 X 24086170 24086170 + synonymous_variant Silent SNP A A T novel Unknown TCGA-36-1569-01 TCGA-36-1569-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000253039.4:c.957A>T p.Val319= p.V319= ENST00000253039 NM_001415.3 319 gtA/gtT 0 Silent A 16 EIF2S3 SNP 23 A T 23996091 23996091 Baylor HNF1A 6927 hgsc.bcm.edu GRCh37 12 121437383 121437383 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1569-01 TCGA-36-1569-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000257555.6:c.1721G>A p.Ser574Asn p.S574N ENST00000257555 574 aGc/aAc 0 Missense_Mutation G 34 HNF1A SNP 12 G A 119921766 119921766 Baylor MARCH2 51257 hgsc.bcm.edu GRCh37 19 8491569 8491569 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-36-1569-01 TCGA-36-1569-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000602117.1:c.253A>T p.Thr85Ser p.T85S ENST00000602117 85 Acg/Tcg 0 Missense_Mutation A 6 MARCH2 SNP 19 A T 8397569 8397569 Baylor MORC1 27136 hgsc.bcm.edu GRCh37 3 108724097 108724097 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1569-01 TCGA-36-1569-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000232603.5:c.1833C>T p.Ser611= p.S611= ENST00000232603 NM_014429.3 611 tcC/tcT 0 Silent G 35 MORC1 SNP 3 G A 110206787 110206787 Baylor SETD2 29072 hgsc.bcm.edu GRCh37 3 47162591 47162591 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1569-01 TCGA-36-1569-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000409792.3:c.3535G>C p.Asp1179His p.D1179H ENST00000409792 NM_014159.6 1179 Gac/Cac 0 Missense_Mutation C 29 SETD2 SNP 3 C G 47137595 47137595 Baylor SLC12A5 57468 hgsc.bcm.edu GRCh37 20 44673649 44673649 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1569-01 TCGA-36-1569-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000454036.2:c.1508C>T p.Ala503Val p.A503V ENST00000454036 NM_001134771.1 503 gCc/gTc 0 Missense_Mutation C 26 SLC12A5 SNP 20 C T 44107056 44107056 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7579529 7579529 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-36-1569-01 TCGA-36-1569-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.158G>A p.Trp53Ter p.W53* ENST00000269305 NM_001126112.2 53 tGg/tAg 0 Nonsense_Mutation C 21 TP53 SNP 17 C T 7520254 7520254 Baylor TRIM58 25893 hgsc.bcm.edu GRCh37 1 248039774 248039774 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1569-01 TCGA-36-1569-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000366481.3:c.1444A>G p.Arg482Gly p.R482G ENST00000366481 NM_015431.3 482 Aga/Gga 0 Missense_Mutation A 3 TRIM58 SNP 1 A G 246106397 246106397 Baylor SLC52A3 113278 genome.wustl.edu GRCh37 20 745986 745986 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000217254.7:c.433G>C p.Glu145Gln p.E145Q ENST00000217254 NM_033409.3 145 Gaa/Caa 0 Missense_Mutation C 29 C20orf54 SNP 20 C G 693986 693986 WashU YES1 7525 genome.wustl.edu GRCh37 18 724573 724573 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314574.4:c.1483C>T p.Gln495Ter p.Q495* ENST00000314574 NM_005433.3 495 Cag/Tag 0 Nonsense_Mutation G 45 YES1 SNP 18 G A 714573 714573 WashU SLC6A3 6531 genome.wustl.edu GRCh37 5 1441479 1441479 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270349.9:c.413T>G p.Leu138Arg p.L138R ENST00000270349 NM_001044.4 138 cTg/cGg 0 Missense_Mutation A 7 SLC6A3 SNP 5 A C 1494479 1494479 WashU TLE6 79816 genome.wustl.edu GRCh37 19 2991957 2991957 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000246112.4:c.1361C>A p.Pro454His p.P454H ENST00000246112 NM_001143986.1 454 cCt/cAt 0 Missense_Mutation C 24 TLE6 SNP 19 C A 2942957 2942957 WashU ZNF263 10127 genome.wustl.edu GRCh37 16 3334004 3334004 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000219069.5:c.186C>T p.Leu62= p.L62= ENST00000219069 NM_005741.4 62 ctC/ctT 0 Silent C 30 ZNF263 SNP 16 C T 3274005 3274005 WashU TRPV3 162514 genome.wustl.edu GRCh37 17 3427556 3427556 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000301365.4:c.1679C>T p.Ala560Val p.A560V ENST00000301365 560 gCg/gTg 0 Missense_Mutation G 38 TRPV3 SNP 17 G A 3374306 3374306 WashU OR51B2 79345 genome.wustl.edu GRCh37 11 5345006 5345006 + synonymous_variant Silent SNP A A C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328813.2:c.522T>G p.Arg174= p.R174= ENST00000328813 NM_033180.4 174 cgT/cgG 0 Silent A 6 OR51B2 SNP 11 A C 5301582 5301582 WashU OR52H1 390067 genome.wustl.edu GRCh37 11 5566538 5566538 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322653.4:c.216C>G p.Ser72= p.S72= ENST00000322653 NM_001005289.1 72 tcC/tcG 0 Silent G 47 OR52H1 SNP 11 G C 5523114 5523114 WashU LRRC23 10233 genome.wustl.edu GRCh37 12 7023194 7023194 + 3_prime_UTR_variant 3'UTR SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000007969.8:c.*164C>T *55* ENST00000007969 NM_201650.2 0 Missense_Mutation C 26 LRRC23 SNP 12 C T 6893455 6893455 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578463 7578463 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.467G>C p.Arg156Pro p.R156P ENST00000269305 NM_001126112.2 156 cGc/cCc 0 Missense_Mutation C 27 TP53 SNP 17 G G 7519188 7519188 WashU CD163 9332 genome.wustl.edu GRCh37 12 7651519 7651519 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359156.4:c.723A>T p.Gln241His p.Q241H ENST00000359156 NM_004244.5 241 caA/caT 0 Missense_Mutation T 56 CD163 SNP 12 T A 7542786 7542786 WashU USP7 7874 genome.wustl.edu GRCh37 16 9024254 9024254 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344836.4:c.80C>G p.Ala27Gly p.A27G ENST00000344836 NM_003470.2 27 gCg/gGg 0 Missense_Mutation G 38 USP7 SNP 16 G C 8931755 8931755 WashU SWAP70 23075 genome.wustl.edu GRCh37 11 9746380 9746380 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318950.6:c.590C>A p.Ser197Tyr p.S197Y ENST00000318950 NM_015055.2 197 tCt/tAt 0 Missense_Mutation C 32 SWAP70 SNP 11 C A 9702956 9702956 WashU TAS2R8 50836 genome.wustl.edu GRCh37 12 10959143 10959143 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000240615.2:c.437T>A p.Leu146His p.L146H ENST00000240615 NM_023918.1 146 cTt/cAt 0 Missense_Mutation A 3 TAS2R8 SNP 12 A T 10850410 10850410 WashU ERVFRD-1 405754 genome.wustl.edu GRCh37 6 11104776 11104776 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000472091.1:c.768C>G p.Val256= p.V256= ENST00000472091 NM_207582.2 256 gtC/gtG 0 Silent G 33 HERV-FRD SNP 6 G C 11212762 11212762 WashU SYN2 6854 genome.wustl.edu GRCh37 3 12211352 12211352 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000432424.2:n.1426G>T *476* ENST00000432424 0 Missense_Mutation G 48 SYN2 SNP 3 G T 12186352 12186352 WashU PRAMEF12 390999 genome.wustl.edu GRCh37 1 12835105 12835105 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357726.4:c.95C>G p.Pro32Arg p.P32R ENST00000357726 NM_001080830.1 32 cCc/cGc 0 Missense_Mutation C 22 PRAMEF12 SNP 1 C G 12757692 12757692 WashU DGKB 1607 genome.wustl.edu GRCh37 7 14733771 14733771 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000403951.2:c.640G>A p.Val214Met p.V214M ENST00000403951 214 Gtg/Atg 0 Missense_Mutation C 19 DGKB SNP 7 C T 14700296 14700296 WashU MYH11 4629 genome.wustl.edu GRCh37 16 15841481 15841481 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396324.3:c.2378T>C p.Ile793Thr p.I793T ENST00000396324 NM_001040114.1 793 aTc/aCc 0 Missense_Mutation A 12 MYH11 SNP 16 A G 15748982 15748982 WashU NWD1 284434 genome.wustl.edu GRCh37 19 16860175 16860175 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000524140.2:c.722C>G p.Thr241Ser p.T241S ENST00000524140 NM_001007525.3 241 aCc/aGc 0 Missense_Mutation C 18 NWD1 SNP 19 C G 16721175 16721175 WashU PLCZ1 89869 genome.wustl.edu GRCh37 12 18836226 18836226 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000266505.7:c.1774G>T p.Gly592Cys p.G592C ENST00000266505 592 Ggt/Tgt 0 Missense_Mutation C 22 PLCZ1 SNP 12 C A 18727493 18727493 WashU PBX4 80714 genome.wustl.edu GRCh37 19 19675835 19675835 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000251203.9:c.832G>C p.Glu278Gln p.E278Q ENST00000251203 NM_025245.2 278 Gag/Cag 0 Missense_Mutation C 32 PBX4 SNP 19 C G 19536835 19536835 WashU ZNF14 7561 genome.wustl.edu GRCh37 19 19823201 19823201 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344099.3:c.889C>T p.His297Tyr p.H297Y ENST00000344099 NM_021030.2 297 Cat/Tat 0 Missense_Mutation G 46 ZNF14 SNP 19 G A 19684201 19684201 WashU OR11H4 390442 genome.wustl.edu GRCh37 14 20711205 20711205 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315409.2:c.255C>T p.Ser85= p.S85= ENST00000315409 NM_001004479.1 85 tcC/tcT 0 Silent C 24 OR11H4 SNP 14 C T 19781045 19781045 WashU SDC1 6382 genome.wustl.edu GRCh37 2 20405145 20405145 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381150.1:c.107G>C p.Gly36Ala p.G36A ENST00000381150 NM_001006946.1 36 gGc/gCc 0 Missense_Mutation C 26 SDC1 SNP 2 C G 20268626 20268626 WashU CYFIP1 23191 genome.wustl.edu GRCh37 15 22969246 22969246 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313077.7:c.2472G>A p.Met824Ile p.M824I ENST00000313077 NM_014608.2 824 atG/atA 0 Missense_Mutation G 48 CYFIP1 SNP 15 G A 20520687 20520687 WashU CTB-31N19.2 genome.wustl.edu GRCh37 16 21544401 21544401 + non_coding_transcript_exon_variant RNA SNP T T G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000550637.1:n.441A>C *147* ENST00000550637 0 Silent T 51 ENSG00000214873 SNP 16 T G 21451902 21451902 WashU RAP1GAP 5909 genome.wustl.edu GRCh37 1 21978037 21978037 + intron_variant Intron SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000290101.4:c.44+235G>A *15* ENST00000290101 NM_001145658.1 0 Silent C 17 RAP1GAP SNP 1 C T 21850624 21850624 WashU PPP3CC 5533 genome.wustl.edu GRCh37 8 22380232 22380232 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397775.3:c.913C>T p.Pro305Ser p.P305S ENST00000397775 NM_001243974.1 305 Ccc/Tcc 0 Missense_Mutation C 22 PPP3CC SNP 8 C T 22436177 22436177 WashU ATAD2B 54454 genome.wustl.edu GRCh37 2 23980761 23980761 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000238789.5:c.3605C>G p.Ser1202Cys p.S1202C ENST00000238789 NM_001242338.1 1202 tCt/tGt 0 Missense_Mutation G 33 ATAD2B SNP 2 G C 23834265 23834265 WashU PRKCB 5579 genome.wustl.edu GRCh37 16 24231294 24231294 + 3_prime_UTR_variant 3'UTR SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303531.7:c.*5157G>A *1719* ENST00000303531 NM_002738.6 0 Missense_Mutation G 33 PRKCB SNP 16 G A 24138795 24138795 WashU SLC5A11 115584 genome.wustl.edu GRCh37 16 24902341 24902341 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000347898.3:c.816G>T p.Pro272= p.P272= ENST00000347898 NM_052944.3 272 ccG/ccT 0 Silent G 39 SLC5A11 SNP 16 G T 24809842 24809842 WashU GINS1 9837 genome.wustl.edu GRCh37 20 25405913 25405913 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262460.4:c.397G>C p.Gly133Arg p.G133R ENST00000262460 NM_021067.3 133 Ggt/Cgt 0 Missense_Mutation G 35 GINS1 SNP 20 C C 25353913 25353913 WashU SF3A1 10291 genome.wustl.edu GRCh37 22 30735183 30735183 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000215793.8:c.1433G>T p.Gly478Val p.G478V ENST00000215793 NM_005877.4 478 gGt/gTt 0 Missense_Mutation C 18 SF3A1 SNP 22 C A 29065183 29065183 WashU RBPMS 11030 genome.wustl.edu GRCh37 8 30332300 30332300 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339877.4:c.72G>C p.Arg24= p.R24= ENST00000339877 NM_001008712.2 24 cgG/cgC 0 Silent G 41 RBPMS SNP 8 G C 30451842 30451842 WashU RXRB 6257 genome.wustl.edu GRCh37 6 33165605 33165605 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374685.4:c.754C>T p.Arg252Cys p.R252C ENST00000374685 252 Cgc/Tgc 0 Missense_Mutation G 38 RXRB SNP 6 G A 33273583 33273583 WashU MYADML 151325 genome.wustl.edu GRCh37 2 33952137 33952137 + non_coding_transcript_exon_variant RNA SNP A A T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000474610.1:n.1138T>A *380* ENST00000474610 0 Missense_Mutation A 14 MYADML SNP 2 A T 33805641 33805641 WashU UBAP2 55833 genome.wustl.edu GRCh37 9 33935776 33935776 + intron_variant Intron SNP A A G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379238.1:c.1969+61T>C *657* ENST00000379238 0 Missense_Mutation A 16 UBAP2 SNP 9 A G 33925776 33925776 WashU C9orf24 84688 genome.wustl.edu GRCh37 9 34382763 34382763 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297623.2:c.385C>T p.Arg129Trp p.R129W ENST00000297623 NM_032596.3 129 Cgg/Tgg 0 Missense_Mutation G 37 C9orf24 SNP 9 G A 34372763 34372763 WashU TTC3 7267 genome.wustl.edu GRCh37 21 38537877 38537877 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399017.2:c.3361C>G p.His1121Asp p.H1121D ENST00000399017 NM_003316.3 1121 Cat/Gat 0 Missense_Mutation C 17 TTC3 SNP 21 C G 37459747 37459747 WashU PLA2G4F 255189 genome.wustl.edu GRCh37 15 42436294 42436294 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382396.4:c.2024G>C p.Cys675Ser p.C675S ENST00000382396 675 tGc/tCc 0 Missense_Mutation C 25 PLA2G4F SNP 15 C G 40223586 40223586 WashU FAM187B 148109 genome.wustl.edu GRCh37 19 35719434 35719434 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324675.3:c.150C>A p.His50Gln p.H50Q ENST00000324675 NM_152481.1 50 caC/caA 0 Missense_Mutation G 36 FAM187B SNP 19 G T 40411274 40411274 WashU NIM1K genome.wustl.edu GRCh37 5 43280531 43280531 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000512796.1:c.1011C>T p.Phe337= p.F337= ENST00000512796 337 ttC/ttT 0 Silent C 30 MGC42105 SNP 5 C T 43316288 43316288 WashU POLM 27434 genome.wustl.edu GRCh37 7 44120512 44120512 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000242248.5:c.192C>T p.Ser64= p.S64= ENST00000242248 NM_013284.2 64 tcC/tcT 0 Silent G 39 POLM SNP 7 G A 44087037 44087037 WashU CPB2 1361 genome.wustl.edu GRCh37 13 46627781 46627781 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000181383.4:c.1240A>C p.Lys414Gln p.K414Q ENST00000181383 NM_001872.4 414 Aaa/Caa 0 Missense_Mutation T 61 CPB2 SNP 13 T G 45525782 45525782 WashU XCR1 2829 genome.wustl.edu GRCh37 3 46062720 46062720 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000309285.3:c.720C>T p.Pro240= p.P240= ENST00000309285 NM_001024644.1 240 ccC/ccT 0 Silent G 35 XCR1 SNP 3 G A 46037724 46037724 WashU CEACAM21 90273 genome.wustl.edu GRCh37 19 42085771 42085771 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000401445.2:c.490C>A p.Leu164Met p.L164M ENST00000401445 164 Ctg/Atg 0 Missense_Mutation C 24 CEACAM21 SNP 19 C A 46777611 46777611 WashU TNS3 64759 genome.wustl.edu GRCh37 7 47440385 47440385 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398879.1:c.850A>C p.Lys284Gln p.K284Q ENST00000398879 284 Aaa/Caa 0 Missense_Mutation T 63 TNS3 SNP 7 T G 47406910 47406910 WashU AGBL2 79841 genome.wustl.edu GRCh37 11 47681860 47681860 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000525123.1:c.2574G>C p.Lys858Asn p.K858N ENST00000525123 NM_024783.3 858 aaG/aaC 0 Missense_Mutation C 32 AGBL2 SNP 11 C G 47638436 47638436 WashU TRIM51G genome.wustl.edu GRCh37 11 48997121 48997121 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000534741.1:n.1282C>T *428* ENST00000534741 0 Silent G 35 LOC120824 SNP 11 G A 48953697 48953697 WashU DMXL2 23312 genome.wustl.edu GRCh37 15 51795104 51795104 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000543779.2:c.2891T>C p.Leu964Pro p.L964P ENST00000543779 964 cTt/cCt 0 Missense_Mutation A 3 DMXL2 SNP 15 A G 49582396 49582396 WashU BSN 8927 genome.wustl.edu GRCh37 3 49699949 49699949 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296452.4:c.10671G>T p.Glu3557Asp p.E3557D ENST00000296452 NM_003458.3 3557 gaG/gaT 0 Missense_Mutation G 35 BSN SNP 3 G T 49674953 49674953 WashU UBA7 7318 genome.wustl.edu GRCh37 3 49847748 49847748 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333486.3:c.1581C>A p.Asn527Lys p.N527K ENST00000333486 NM_003335.2 527 aaC/aaA 0 Missense_Mutation G 36 UBA7 SNP 3 G T 49822752 49822752 WashU RPGRIP1L 23322 genome.wustl.edu GRCh37 16 53726199 53726199 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379925.3:c.308G>T p.Gly103Val p.G103V ENST00000379925 NM_015272.2 103 gGa/gTa 0 Missense_Mutation C 30 RPGRIP1L SNP 16 C A 52283700 52283700 WashU LRRC1 55227 genome.wustl.edu GRCh37 6 53743857 53743857 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370888.1:c.344A>T p.Asn115Ile p.N115I ENST00000370888 NM_018214.4 115 aAc/aTc 0 Missense_Mutation A 2 LRRC1 SNP 6 A T 53851816 53851816 WashU SMG8 55181 genome.wustl.edu GRCh37 17 57289008 57289008 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000543872.2:c.1596T>C p.Leu532= p.L532= ENST00000543872 532 ctT/ctC 0 Silent T 62 C17orf71 SNP 17 T C 54643790 54643790 WashU IKZF4 64375 genome.wustl.edu GRCh37 12 56417511 56417511 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262032.5:c.144C>A p.Asp48Glu p.D48E ENST00000262032 48 gaC/gaA 0 Missense_Mutation C 20 IKZF4 SNP 12 C A 54703778 54703778 WashU GLS2 27165 genome.wustl.edu GRCh37 12 56865559 56865559 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311966.4:c.1650C>A p.Asp550Glu p.D550E ENST00000311966 NM_001280797.1 550 gaC/gaA 0 Missense_Mutation G 48 GLS2 SNP 12 G T 55151826 55151826 WashU OTX2 5015 genome.wustl.edu GRCh37 14 57269021 57269021 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339475.5:c.326A>C p.Gln109Pro p.Q109P ENST00000339475 NM_001270524.1 109 cAg/cCg 0 Missense_Mutation T 55 OTX2 SNP 14 T G 56338774 56338774 WashU USP34 9736 genome.wustl.edu GRCh37 2 61522381 61522381 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398571.2:c.4299C>T p.Ser1433= p.S1433= ENST00000398571 NM_014709.3 1433 agC/agT 0 Silent G 38 USP34 SNP 2 G A 61375885 61375885 WashU PLEKHO2 80301 genome.wustl.edu GRCh37 15 65157820 65157820 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000323544.4:c.1206C>A p.Pro402= p.P402= ENST00000323544 NM_025201.4 402 ccC/ccA 0 Silent C 24 PLEKHO2 SNP 15 A A 62944873 62944873 WashU WIF1 11197 genome.wustl.edu GRCh37 12 65445178 65445178 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286574.4:c.1091A>G p.Lys364Arg p.K364R ENST00000286574 NM_007191.4 364 aAa/aGa 0 Missense_Mutation T 64 WIF1 SNP 12 T C 63731445 63731445 WashU ADAMTS6 11174 genome.wustl.edu GRCh37 5 64510687 64510687 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381055.3:c.2509G>C p.Asp837His p.D837H ENST00000381055 NM_197941.2 837 Gat/Cat 0 Missense_Mutation C 32 ADAMTS6 SNP 5 C G 64546443 64546443 WashU TM7SF2 7108 genome.wustl.edu GRCh37 11 64881061 64881061 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000279263.7:c.598G>C p.Gly200Arg p.G200R ENST00000279263 NM_003273.3 200 Ggc/Cgc 0 Missense_Mutation G 39 TM7SF2 SNP 11 G C 64637637 64637637 WashU GRIP1 23426 genome.wustl.edu GRCh37 12 66856837 66856837 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398016.3:c.909C>A p.Ser303= p.S303= ENST00000398016 NM_021150.3 303 tcC/tcA 0 Silent G 47 GRIP1 SNP 12 G T 65143104 65143104 WashU RP11-203I2.1 genome.wustl.edu GRCh37 9 65595067 65595067 + splice_acceptor_variant,non_coding_transcript_variant Splice_Site SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000435173.1:n.280-1G>A p.X94_splice ENST00000435173 0 Splice_Site_SNP G 34 LOC643827 SNP 9 G A 65334887 65334887 WashU CDH16 1014 genome.wustl.edu GRCh37 16 66946665 66946665 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299752.4:c.1184C>G p.Pro395Arg p.P395R ENST00000299752 NM_001204744.1 395 cCc/cGc 0 Missense_Mutation G 43 CDH16 SNP 16 G C 65504166 65504166 WashU TRIM55 84675 genome.wustl.edu GRCh37 8 67039617 67039617 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315962.4:c.114G>A p.Val38= p.V38= ENST00000315962 NM_184085.1 38 gtG/gtA 0 Silent G 45 TRIM55 SNP 8 G A 67202171 67202171 WashU PROKR1 10887 genome.wustl.edu GRCh37 2 68882521 68882521 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303786.3:c.995T>G p.Met332Arg p.M332R ENST00000303786 332 aTg/aGg 0 Missense_Mutation T 51 PROKR1 SNP 2 T G 68736025 68736025 WashU UACA 55075 genome.wustl.edu GRCh37 15 70959142 70959142 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322954.6:c.3881A>G p.Asp1294Gly p.D1294G ENST00000322954 NM_018003.2 1294 gAt/gGt 0 Missense_Mutation T 50 UACA SNP 15 T C 68746196 68746196 WashU XKR9 389668 genome.wustl.edu GRCh37 8 71646497 71646497 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000408926.3:c.960T>C p.Pro320= p.P320= ENST00000408926 NM_001011720.1 320 ccT/ccC 0 Silent T 53 XKR9 SNP 8 T C 71809051 71809051 WashU MFSD11 79157 genome.wustl.edu GRCh37 17 74774349 74774349 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000588460.1:c.1265G>T p.Gly422Val p.G422V ENST00000588460 NM_001242534.1 422 gGg/gTg 0 Missense_Mutation G 43 MFSD11 SNP 17 G T 72285944 72285944 WashU CYP11A1 1583 genome.wustl.edu GRCh37 15 74631650 74631650 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268053.6:c.1164C>A p.His388Gln p.H388Q ENST00000268053 NM_000781.2 388 caC/caA 0 Missense_Mutation G 44 CYP11A1 SNP 15 G T 72418703 72418703 WashU SEC14L1 6397 genome.wustl.edu GRCh37 17 75205535 75205535 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392476.2:c.1588G>A p.Val530Ile p.V530I ENST00000392476 NM_001204408.1 530 Gtc/Atc 0 Missense_Mutation G 40 SEC14L1 SNP 17 G A 72717130 72717130 WashU MPI 4351 genome.wustl.edu GRCh37 15 75188616 75188616 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000352410.4:c.794G>T p.Gly265Val p.G265V ENST00000352410 265 gGg/gTg 0 Missense_Mutation G 43 MPI SNP 15 G T 72975669 72975669 WashU KLF12 11278 genome.wustl.edu GRCh37 13 74289529 74289529 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377669.2:c.1003A>G p.Lys335Glu p.K335E ENST00000377669 NM_007249.4 335 Aag/Gag 0 Missense_Mutation T 62 KLF12 SNP 13 T C 73187530 73187530 WashU GTF2IRD2 84163 genome.wustl.edu GRCh37 7 74211464 74211464 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405086.2:c.2387C>G p.Thr796Ser p.T796S ENST00000405086 NM_173537.3 796 aCt/aGt 0 Missense_Mutation G 36 GTF2IRD2 SNP 7 G C 73849400 73849400 WashU SLC4A5 57835 genome.wustl.edu GRCh37 2 74491340 74491340 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377634.4:c.649C>T p.Arg217Cys p.R217C ENST00000377634 217 Cgc/Tgc 0 Missense_Mutation G 39 SLC4A5 SNP 2 G A 74344848 74344848 WashU MYCBP2 23077 genome.wustl.edu GRCh37 13 77629819 77629819 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000544440.2:c.13407G>C p.Met4469Ile p.M4469I ENST00000544440 4469 atG/atC 0 Missense_Mutation C 29 MYCBP2 SNP 13 C G 76527820 76527820 WashU NAV3 89795 genome.wustl.edu GRCh37 12 78582112 78582112 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000536525.2:c.5809C>T p.Arg1937Cys p.R1937C ENST00000536525 NM_014903.4 1937 Cgt/Tgt 0 Missense_Mutation C 19 NAV3 SNP 12 C T 77106243 77106243 WashU LPAR4 2846 genome.wustl.edu GRCh37 X 78011285 78011285 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000435339.3:c.919G>C p.Asp307His p.D307H ENST00000435339 NM_005296.2 307 Gac/Cac 0 Missense_Mutation G 45 LPAR4 SNP 23 G C 77897941 77897941 WashU USP33 23032 genome.wustl.edu GRCh37 1 78180334 78180334 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370793.1:c.2273C>G p.Pro758Arg p.P758R ENST00000370793 NM_015017.4 758 cCt/cGt 0 Missense_Mutation G 35 USP33 SNP 1 G C 77952922 77952922 WashU POU4F1 5457 genome.wustl.edu GRCh37 13 79175768 79175768 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377208.5:c.1042G>C p.Glu348Gln p.E348Q ENST00000377208 NM_006237.3 348 Gag/Cag 0 Missense_Mutation C 29 POU4F1 SNP 13 G G 78073769 78073769 WashU BHMT 635 genome.wustl.edu GRCh37 5 78423785 78423785 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274353.5:c.1016C>G p.Thr339Ser p.T339S ENST00000274353 NM_001713.2 339 aCc/aGc 0 Missense_Mutation C 18 BHMT SNP 5 C G 78459541 78459541 WashU MBTPS1 8720 genome.wustl.edu GRCh37 16 84127339 84127339 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343411.3:c.713C>A p.Thr238Asn p.T238N ENST00000343411 NM_003791.2 238 aCc/aAc 0 Missense_Mutation G 44 MBTPS1 SNP 16 G T 82684840 82684840 WashU AKAP13 11214 genome.wustl.edu GRCh37 15 86228052 86228052 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361243.2:c.5249G>T p.Ser1750Ile p.S1750I ENST00000361243 NM_006738.5 1750 aGt/aTt 0 Missense_Mutation G 36 AKAP13 SNP 15 G T 84029056 84029056 WashU SPP1 6696 genome.wustl.edu GRCh37 4 88903788 88903788 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395080.3:c.685C>A p.Gln229Lys p.Q229K ENST00000395080 NM_001040058.1 229 Cag/Aag 0 Missense_Mutation C 29 SPP1 SNP 4 C A 89122812 89122812 WashU GPR98 84059 genome.wustl.edu GRCh37 5 89989844 89989844 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405460.2:c.7271G>A p.Arg2424Lys p.R2424K ENST00000405460 NM_032119.3 2424 aGa/aAa 0 Missense_Mutation G 33 GPR98 SNP 5 G A 90025600 90025600 WashU ZNF326 284695 genome.wustl.edu GRCh37 1 90482997 90482997 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340281.4:c.1048G>T p.Asp350Tyr p.D350Y ENST00000340281 NM_182976.2 350 Gat/Tat 0 Missense_Mutation G 45 ZNF326 SNP 1 G T 90255585 90255585 WashU CCDC88C 440193 genome.wustl.edu GRCh37 14 91779753 91779753 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389857.6:c.2407C>G p.Leu803Val p.L803V ENST00000389857 NM_001080414.3 803 Ctg/Gtg 0 Missense_Mutation G 35 CCDC88C SNP 14 G C 90849506 90849506 WashU DDX24 57062 genome.wustl.edu GRCh37 14 94528821 94528821 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330836.5:c.865G>C p.Gly289Arg p.G289R ENST00000330836 NM_020414.3 289 Ggc/Cgc 0 Missense_Mutation C 24 DDX24 SNP 14 C G 93598574 93598574 WashU FOLR4 390243 genome.wustl.edu GRCh37 11 94040366 94040366 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000440961.2:c.363T>A p.Asn121Lys p.N121K ENST00000440961 NM_001199206.1 121 aaT/aaA 0 Missense_Mutation T 51 FOLR4 SNP 11 T A 93680014 93680014 WashU HHEX 3087 genome.wustl.edu GRCh37 10 94454460 94454460 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282728.5:c.748A>G p.Ile250Val p.I250V ENST00000282728 NM_002729.4 250 Att/Gtt 0 Missense_Mutation A 12 HHEX SNP 10 A G 94444440 94444440 WashU DYNC1I1 1780 genome.wustl.edu GRCh37 7 95705504 95705504 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324972.6:c.1696A>C p.Thr566Pro p.T566P ENST00000324972 NM_004411.4 566 Acc/Ccc 0 Missense_Mutation A 6 DYNC1I1 SNP 7 A C 95543440 95543440 WashU BDKRB2 624 genome.wustl.edu GRCh37 14 96707746 96707746 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306005.3:c.1081A>T p.Ile361Phe p.I361F ENST00000306005 NM_000623.3 361 Att/Ttt 0 Missense_Mutation A 8 BDKRB2 SNP 14 A T 95777499 95777499 WashU CYP2C9 1559 genome.wustl.edu GRCh37 10 96748644 96748644 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260682.6:c.1332G>C p.Glu444Asp p.E444D ENST00000260682 NM_000771.3 444 gaG/gaC 0 Missense_Mutation G 34 CYP2C9 SNP 10 G C 96738634 96738634 WashU SYNM 23336 genome.wustl.edu GRCh37 15 99672483 99672483 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336292.6:c.3915A>G p.Thr1305= p.T1305= ENST00000336292 NM_145728.2 1305 acA/acG 0 Missense_Mutation A 8 SYNM SNP 15 A G 97490006 97490006 WashU AMY2A 279 genome.wustl.edu GRCh37 1 104166801 104166801 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000414303.2:c.1304G>T p.Gly435Val p.G435V ENST00000414303 NM_000699.2 435 gGg/gTg 0 Missense_Mutation G 43 AMY2A SNP 1 G T 103968324 103968324 WashU WDR96 80217 genome.wustl.edu GRCh37 10 105952029 105952029 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357060.3:c.1474G>A p.Gly492Arg p.G492R ENST00000357060 NM_025145.5 492 Gga/Aga 0 Missense_Mutation C 21 C10orf79 SNP 10 C T 105942019 105942019 WashU STXBP3 6814 genome.wustl.edu GRCh37 1 109315285 109315285 + splice_acceptor_variant Splice_Site SNP A A T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370008.3:c.439-2A>T p.X147_splice ENST00000370008 NM_007269.2 0 Splice_Site_SNP A 15 STXBP3 SNP 1 A T 109116808 109116808 WashU SLC9C1 285335 genome.wustl.edu GRCh37 3 111899441 111899441 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000305815.5:c.2718A>G p.Gly906= p.G906= ENST00000305815 NM_183061.1 906 ggA/ggG 0 Silent T 62 SLC9A10 SNP 3 T C 113382131 113382131 WashU CCDC172 374355 genome.wustl.edu GRCh37 10 118116907 118116907 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333254.3:c.464A>G p.Glu155Gly p.E155G ENST00000333254 NM_198515.2 155 gAa/gGa 0 Missense_Mutation A 9 C10orf96 SNP 10 A G 118106897 118106897 WashU NOV 4856 genome.wustl.edu GRCh37 8 120430510 120430510 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000259526.3:c.523C>G p.Pro175Ala p.P175A ENST00000259526 NM_002514.3 175 Cca/Gca 0 Missense_Mutation C 22 NOV SNP 8 C G 120499691 120499691 WashU TIMMDC1 51300 genome.wustl.edu GRCh37 3 119219566 119219566 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000494664.1:c.219C>G p.Asp73Glu p.D73E ENST00000494664 NM_016589.3 73 gaC/gaG 0 Missense_Mutation C 18 C3orf1 SNP 3 C G 120702256 120702256 WashU MLXIP 22877 genome.wustl.edu GRCh37 12 122623472 122623472 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319080.7:c.2495G>T p.Trp832Leu p.W832L ENST00000319080 NM_014938.4_dupl16 832 tGg/tTg 0 Nonsense_Mutation G 47 MLXIP SNP 12 G T 121189425 121189425 WashU GOLGA2 2801 genome.wustl.edu GRCh37 9 131022956 131022956 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000421699.2:c.1465G>A p.Asp489Asn p.D489N ENST00000421699 NM_004486.4 489 Gac/Aac 0 Missense_Mutation C 32 GOLGA2 SNP 9 C T 130062777 130062777 WashU ENPP1 5167 genome.wustl.edu GRCh37 6 132211589 132211589 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360971.2:c.2716G>C p.Glu906Gln p.E906Q ENST00000360971 NM_006208.2 906 Gag/Cag 0 Missense_Mutation G 33 ENPP1 SNP 6 G C 132253282 132253282 WashU NCAPD3 23310 genome.wustl.edu GRCh37 11 134027822 134027822 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000534548.2:c.4174+1G>T p.X1392_splice ENST00000534548 NM_015261.2 0 Splice_Site_SNP C 18 NCAPD3 SNP 11 C A 133533032 133533032 WashU MOSPD1 56180 genome.wustl.edu GRCh37 X 134033376 134033376 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370783.3:c.88G>A p.Asp30Asn p.D30N ENST00000370783 NM_019556.1 30 Gat/Aat 0 Missense_Mutation C 29 MOSPD1 SNP 23 C T 133861042 133861042 WashU C3orf36 80111 genome.wustl.edu GRCh37 3 133647488 133647488 + synonymous_variant Silent SNP T T G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000408895.2:c.160A>C p.Arg54= p.R54= ENST00000408895 NM_025041.2 54 Agg/Cgg 0 Silent T 55 C3orf36 SNP 3 T G 135130178 135130178 WashU LECT2 3950 genome.wustl.edu GRCh37 5 135286975 135286975 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274507.1:c.226G>C p.Gly76Arg p.G76R ENST00000274507 NM_002302.2 76 Ggc/Cgc 0 Missense_Mutation C 22 LECT2 SNP 5 C G 135314874 135314874 WashU CCDC183 84960 genome.wustl.edu GRCh37 9 139697148 139697148 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338005.6:c.576G>C p.Lys192Asn p.K192N ENST00000338005 NM_001039374.4 192 aaG/aaC 0 Missense_Mutation G 34 KIAA1984 SNP 9 C C 138816969 138816969 WashU KDM7A 80853 genome.wustl.edu GRCh37 7 139796808 139796808 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397560.2:c.2056G>A p.Asp686Asn p.D686N ENST00000397560 NM_030647.1 686 Gat/Aat 0 Missense_Mutation C 29 JHDM1D SNP 7 C T 139443277 139443277 WashU MKRN1 23608 genome.wustl.edu GRCh37 7 140154928 140154928 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000255977.2:c.1203G>C p.Gln401His p.Q401H ENST00000255977 NM_013446.3 401 caG/caC 0 Missense_Mutation C 32 MKRN1 SNP 7 C G 139801397 139801397 WashU PCDHGA1 56114 genome.wustl.edu GRCh37 5 140712162 140712162 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000517417.1:c.1911G>A p.Ala637= p.A637= ENST00000517417 NM_018912.2 637 gcG/gcA 0 Silent G 38 PCDHGA1 SNP 5 G A 140692346 140692346 WashU ACP6 51205 genome.wustl.edu GRCh37 1 147131780 147131780 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369238.6:c.330C>T p.Tyr110= p.Y110= ENST00000369238 NM_016361.4 110 taC/taT 0 Silent G 44 ACP6 SNP 1 G A 145598404 145598404 WashU ZNF16 7564 genome.wustl.edu GRCh37 8 146156539 146156539 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276816.4:c.1634A>G p.Tyr545Cys p.Y545C ENST00000276816 NM_001029976.2 545 tAt/tGt 0 Missense_Mutation T 49 ZNF16 SNP 8 T C 146127343 146127343 WashU CA14 23632 genome.wustl.edu GRCh37 1 150234556 150234556 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369111.4:c.257-1G>A p.X86_splice ENST00000369111 NM_012113.1 0 Splice_Site_SNP G 36 CA14 SNP 1 G A 148501180 148501180 WashU POGZ 23126 genome.wustl.edu GRCh37 1 151400755 151400755 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271715.2:c.703C>G p.Leu235Val p.L235V ENST00000271715 NM_015100.3 235 Ctt/Gtt 0 Missense_Mutation G 33 POGZ SNP 1 G C 149667379 149667379 WashU ARFIP1 27236 genome.wustl.edu GRCh37 4 153809373 153809373 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000451320.2:c.880C>G p.Gln294Glu p.Q294E ENST00000451320 NM_001287431.1 294 Cag/Gag 0 Missense_Mutation C 17 ARFIP1 SNP 4 C G 154028823 154028823 WashU HTR5A 3361 genome.wustl.edu GRCh37 7 154876012 154876012 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287907.2:c.889T>G p.Cys297Gly p.C297G ENST00000287907 NM_024012.3 297 Tgc/Ggc 0 Missense_Mutation T 55 HTR5A SNP 7 T G 154506945 154506945 WashU GPR149 344758 genome.wustl.edu GRCh37 3 154146819 154146819 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389740.2:c.586A>G p.Ile196Val p.I196V ENST00000389740 NM_001038705.1 196 Atc/Gtc 0 Missense_Mutation T 49 GPR149 SNP 3 T C 155629513 155629513 WashU DUSP27 92235 genome.wustl.edu GRCh37 1 167097259 167097259 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361200.2:c.2891G>A p.Arg964Lys p.R964K ENST00000361200 964 aGa/aAa 0 Missense_Mutation G 33 DUSP27 SNP 1 G A 165363883 165363883 WashU SLC38A11 151258 genome.wustl.edu GRCh37 2 165795967 165795967 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409149.3:c.362T>A p.Leu121His p.L121H ENST00000409149 NM_001199148.1 121 cTt/cAt 0 Missense_Mutation A 3 SLC38A11 SNP 2 A T 165504213 165504213 WashU WWC1 23286 genome.wustl.edu GRCh37 5 167894880 167894880 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000521089.1:c.3204G>A p.Gln1068= p.Q1068= ENST00000521089 1068 caG/caA 0 Silent G 33 WWC1 SNP 5 G A 167827458 167827458 WashU PALLD 23022 genome.wustl.edu GRCh37 4 169824955 169824955 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000505667.1:c.2520C>T p.His840= p.H840= ENST00000505667 840 caC/caT 0 Silent C 20 PALLD SNP 4 C T 170061530 170061530 WashU CDCA7 83879 genome.wustl.edu GRCh37 2 174230274 174230274 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306721.3:c.989A>G p.Glu330Gly p.E330G ENST00000306721 NM_031942.4 330 gAg/gGg 0 Missense_Mutation A 11 CDCA7 SNP 2 A G 173938520 173938520 WashU MGAT1 4245 genome.wustl.edu GRCh37 5 180219413 180219413 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000446023.2:c.559C>T p.Arg187Cys p.R187C ENST00000446023 NM_001114618.1 187 Cgc/Tgc 0 Missense_Mutation G 38 MGAT1 SNP 5 A A 180152019 180152019 WashU FRZB 2487 genome.wustl.edu GRCh37 2 183730937 183730937 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295113.4:c.344C>A p.Ala115Asp p.A115D ENST00000295113 NM_001463.3 115 gCc/gAc 0 Missense_Mutation G 42 FRZB SNP 2 G T 183439182 183439182 WashU MASP1 5648 genome.wustl.edu GRCh37 3 186954120 186954120 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296280.6:c.1539G>A p.Lys513= p.K513= ENST00000296280 NM_139125.3 513 aaG/aaA 0 Silent C 24 MASP1 SNP 3 C T 188436814 188436814 WashU TFRC 7037 genome.wustl.edu GRCh37 3 195798994 195798994 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360110.4:c.464G>A p.Arg155His p.R155H ENST00000360110 NM_001128148.1 155 cGt/cAt 0 Missense_Mutation C 19 TFRC SNP 3 C T 197283391 197283391 WashU CPS1 1373 genome.wustl.edu GRCh37 2 211476989 211476989 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000430249.2:c.2558G>C p.Ser853Thr p.S853T ENST00000430249 NM_001122633.2 853 aGc/aCc 0 Missense_Mutation G 34 CPS1 SNP 2 G C 211185234 211185234 WashU UGT1A8 54576 genome.wustl.edu GRCh37 2 234526510 234526510 + missense_variant Missense_Mutation SNP C C T rs45504099 byFrequency TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000373450.4:c.157C>T p.His53Tyr p.H53Y ENST00000373450 NM_019076.4 53 Cat/Tat 0 Missense_Mutation C 25 UGT1A8 SNP 2 C T 234191249 234191249 WashU BMP2K 55589 genome.wustl.edu GRCh37 4 79786722 79786722 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C G C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000335016.5:c.1079C>G p.Thr360Ser p.T360S ENST00000335016 NM_198892.1 360 aCc/aGc 0 Missense_Mutation C 18 BMP2K SNP 4 G C 80005746 80005746 WashU PTPRF 5792 genome.wustl.edu GRCh37 1 44069511 44069511 + missense_variant Missense_Mutation SNP C C G Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000359947.4:c.2688C>G p.Asn896Lys p.N896K ENST00000359947 NM_002840.3 896 aaC/aaG 0 Missense_Mutation C 18 PTPRF SNP 1 C G 43842098 43842098 WashU CRTAC1 55118 genome.wustl.edu GRCh37 10 99643995 99643995 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370597.3:c.1600G>A p.Glu534Lys p.E534K ENST00000370597 NM_018058.6 534 Gag/Aag 0 Missense_Mutation C 29 CRTAC1 SNP 10 C T 99633985 99633985 WashU PLCB3 5331 genome.wustl.edu GRCh37 11 64029960 64029960 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000540288.1:c.2120G>A p.Arg707Gln p.R707Q ENST00000540288 NM_000932.2 707 cGg/cAg 0 Missense_Mutation G 39 PLCB3 SNP 11 G A 63786536 63786536 WashU COL2A1 1280 genome.wustl.edu GRCh37 12 48386684 48386684 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380518.3:c.1000C>T p.Arg334Trp p.R334W ENST00000380518 NM_033150.2 334 Cgg/Tgg 0 Missense_Mutation G 40 COL2A1 SNP 12 G A 46672951 46672951 WashU IGHD 3495 genome.wustl.edu GRCh37 14 106306852 106306852 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390556.2:c.976C>T p.Pro326Leu p.P326L ENST00000390556 326 cCt/cTt 0 Missense_Mutation G 35 IGHD SNP 14 G A 105377897 105377897 WashU NDNL2 56160 genome.wustl.edu GRCh37 15 29561198 29561199 + missense_variant Missense_Mutation DNP TC TC AT novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332303.4:c.711_712delinsAT p.Ile238Leu p.I238L ENST00000332303 NM_138704.3 237 cgGAta/cgATta 0 Missense TC 50 NDNL2 DNP 15 TC AT 27348491 27348490 WashU SPATA8 145946 genome.wustl.edu GRCh37 15 97328234 97328234 + missense_variant Missense_Mutation SNP T T C Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T C T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000328504.3:c.205T>C p.Cys69Arg p.C69R ENST00000328504 NM_173499.3 69 Tgt/Cgt 0 Missense_Mutation T 55 SPATA8 SNP 15 T C 95129238 95129238 WashU FMNL2 114793 genome.wustl.edu GRCh37 2 153417433 153417433 + synonymous_variant Silent SNP C C T Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000288670.9:c.480C>T p.Ser160= p.S160= ENST00000288670 NM_052905.3 160 agC/agT 0 Silent C 28 FMNL2 SNP 2 C T 153125679 153125679 WashU SLC4A5 57835 genome.wustl.edu GRCh37 2 74531799 74531799 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377634.4:c.88C>A p.Pro30Thr p.P30T ENST00000377634 30 Cct/Act 0 Missense_Mutation G 41 SLC4A5 SNP 2 G T 74385307 74385307 WashU RPL23AP12 genome.wustl.edu GRCh37 21 40499897 40499897 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000467573.1:n.404G>A *135* ENST00000467573 0 Silent G 33 LOC391282 SNP 21 G A 39421767 39421767 WashU DSCAM 1826 genome.wustl.edu GRCh37 21 41424001 41424001 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400454.1:c.5069A>C p.Asp1690Ala p.D1690A ENST00000400454 NM_001271534.1 1690 gAc/gCc 0 Missense_Mutation T 58 DSCAM SNP 21 T G 40345871 40345871 WashU KDELR3 11015 genome.wustl.edu GRCh37 22 38877445 38877446 + missense_variant Missense_Mutation DNP TT TT GA novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409006.3:c.580_581delinsGA p.Phe194Asp p.F194D ENST00000409006 NM_016657.2 194 TTc/GAc 0 Missense TT 56 KDELR3 DNP 22 TT GA 37207392 37207391 WashU LRPAP1 4043 genome.wustl.edu GRCh37 4 3519782 3519782 + missense_variant Missense_Mutation SNP G G T Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000500728.2:c.730C>A p.Gln244Lys p.Q244K ENST00000500728 NM_002337.3 244 Cag/Aag 0 Missense_Mutation G 47 LRPAP1 SNP 4 G T 3489580 3489580 WashU AK9 221264 genome.wustl.edu GRCh37 6 109854526 109854526 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000424296.2:c.3498A>G p.Glu1166= p.E1166= ENST00000424296 NM_001145128.2 1166 gaA/gaG 0 Silent T 64 AKD1 SNP 6 T C 109961219 109961219 WashU TRERF1 55809 genome.wustl.edu GRCh37 6 42196193 42196193 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372922.4:c.3493G>A p.Asp1165Asn p.D1165N ENST00000372922 NM_033502.2 1165 Gac/Aac 0 Missense_Mutation C 31 TRERF1 SNP 6 C T 42304171 42304171 WashU TRERF1 55809 genome.wustl.edu GRCh37 6 42196196 42196196 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372922.4:c.3490G>A p.Asp1164Asn p.D1164N ENST00000372922 NM_033502.2 1164 Gac/Aac 0 Missense_Mutation C 31 TRERF1 SNP 6 C T 42304174 42304174 WashU GPR146 115330 genome.wustl.edu GRCh37 7 1097891 1097891 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397095.1:c.740C>G p.Thr247Arg p.T247R ENST00000397095 247 aCg/aGg 0 Missense_Mutation C 19 GPR146 SNP 7 C G 1064417 1064417 WashU AKAP9 10142 genome.wustl.edu GRCh37 7 91641910 91641910 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356239.3:c.3486G>C p.Gln1162His p.Q1162H ENST00000356239 NM_147185.2 1162 caG/caC 0 Missense_Mutation G 33 AKAP9 SNP 7 G C 91479846 91479846 WashU XIRP2 129446 genome.wustl.edu GRCh37 2 168100320 168100336 + frameshift_variant Frame_Shift_Del DEL TAAGGCAAAGTGGTTAT TAAGGCAAAGTGGTTAT - Unknown TCGA-23-1124-01 TCGA-23-1124-10 TAAGGCAAAGTGGTTAT TAAGGCAAAGTGGTTAT TAAGGCAAAGTGGTTAT - TAAGGCAAAGTGGTTAT TAAGGCAAAGTGGTTAT Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000409195.1:c.2419_2435del p.Lys807Ter p.K807* ENST00000409195 NM_152381.5 806 agTAAGGCAAAGTGGTTATtt/agtt 0 Frame_Shift_Del TAAGGCAAAGTGGTTAT 57 XIRP2 DEL 2 TAAGGCAAAGTGGTTAT - 167808582 167808566 WashU CSF3 1440 genome.wustl.edu GRCh37 17 38171943 38171943 + splice_acceptor_variant Splice_Site SNP G G A Unknown TCGA-23-1124-01 TCGA-23-1124-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000225474.2:c.41-1G>A p.X14_splice ENST00000225474 0 Splice_Site_SNP G 34 CSF3 SNP 17 G A 35425469 35425469 WashU OTOP2 92736 genome.wustl.edu GRCh37 17 72926820 72926820 + missense_variant Missense_Mutation SNP A A G Unknown TCGA-23-1124-01 TCGA-23-1124-10 A A A G A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000331427.4:c.1090A>G p.Thr364Ala p.T364A ENST00000331427 NM_178160.2 364 Acg/Gcg 0 Missense_Mutation A 6 OTOP2 SNP 17 A G 70438415 70438415 WashU ABHD5 51099 hgsc.bcm.edu GRCh37 3 43743852 43743852 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000458276.2:c.279G>A p.Leu93= p.L93= ENST00000458276 NM_016006.4 93 ctG/ctA 0 Silent G 45 ABHD5 SNP 3 G A 43718856 43718856 Baylor AGTR2 186 hgsc.bcm.edu GRCh37 X 115304582 115304582 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371906.4:c.1049G>A p.Arg350Gln p.R350Q ENST00000371906 NM_000686.4 350 cGg/cAg 0 Missense_Mutation G 39 AGTR2 SNP 23 G A 115218610 115218610 Baylor ALOX5AP 241 hgsc.bcm.edu GRCh37 13 31318290 31318290 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000380490.3:c.164C>T p.Thr55Ile p.T55I ENST00000380490 NM_001629.3 55 aCt/aTt 0 Missense_Mutation C 20 ALOX5AP SNP 13 C T 30216290 30216290 Baylor AOX1 316 hgsc.bcm.edu GRCh37 2 201534449 201534449 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000374700.2:c.3950A>T p.Asp1317Val p.D1317V ENST00000374700 NM_001159.3 1317 gAc/gTc 0 Missense_Mutation A 10 AOX1 SNP 2 A T 201242694 201242694 Baylor BACH2 60468 hgsc.bcm.edu GRCh37 6 90642153 90642153 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000257749.4:c.2500G>T p.Glu834Ter p.E834* ENST00000257749 NM_021813.2 834 Gaa/Taa 0 Nonsense_Mutation C 31 BACH2 SNP 6 C A 90698874 90698874 Baylor BOD1L1 259282 hgsc.bcm.edu GRCh37 4 13601898 13601898 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000040738.5:c.6626G>A p.Ser2209Asn p.S2209N ENST00000040738 NM_148894.2 2209 aGc/aAc 0 Missense_Mutation C 28 BOD1L SNP 4 C T 13210996 13210996 Baylor C12orf10 60314 hgsc.bcm.edu GRCh37 12 53700512 53700512 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000267103.5:c.814T>A p.Trp272Arg p.W272R ENST00000267103 NM_021640.3 272 Tgg/Agg 0 Missense_Mutation T 55 C12orf10 SNP 12 T A 51986779 51986779 Baylor C5orf42 65250 hgsc.bcm.edu GRCh37 5 37120431 37120431 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000425232.2:c.9035A>G p.His3012Arg p.H3012R ENST00000425232 NM_023073.3 3012 cAt/cGt 0 Missense_Mutation T 51 C5orf42 SNP 5 T C 37156188 37156188 Baylor C9orf72 203228 hgsc.bcm.edu GRCh37 9 27556634 27556634 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000380003.3:c.1016T>C p.Phe339Ser p.F339S ENST00000380003 NM_001256054.1 339 tTc/tCc 0 Missense_Mutation A 9 C9orf72 SNP 9 A G 27546634 27546634 Baylor CBLC 23624 hgsc.bcm.edu GRCh37 19 45297507 45297507 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000270279.3:c.1331C>T p.Pro444Leu p.P444L ENST00000270279 NM_012116.3 444 cCc/cTc 0 Missense_Mutation C 22 CBLC SNP 19 C T 49989347 49989347 Baylor CCL15 6359 hgsc.bcm.edu GRCh37 17 34325392 34325392 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000354059.4:c.172A>G p.Ile58Val p.I58V ENST00000354059 NM_032965.4 58 Atc/Gtc 0 Missense_Mutation T 51 CCL15 SNP 17 T C 31349505 31349505 Baylor CD99L2 83692 hgsc.bcm.edu GRCh37 X 149938816 149938816 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000370377.3:c.682G>A p.Gly228Arg p.G228R ENST00000370377 NM_031462.3 228 Gga/Aga 0 Missense_Mutation C 22 CD99L2 SNP 23 C T 149689474 149689474 Baylor CHKA 1119 hgsc.bcm.edu GRCh37 11 67837737 67837737 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000265689.4:c.788T>C p.Ile263Thr p.I263T ENST00000265689 NM_001277.2 263 aTt/aCt 0 Missense_Mutation A 4 CHKA SNP 11 A G 67594313 67594313 Baylor CLN8 2055 hgsc.bcm.edu GRCh37 8 1719606 1719606 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000331222.4:c.386G>A p.Arg129Gln p.R129Q ENST00000331222 NM_018941.3 129 cGg/cAg 0 Missense_Mutation G 39 CLN8 SNP 8 G A 1707013 1707013 Baylor CPA5 93979 hgsc.bcm.edu GRCh37 7 130002341 130002341 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000485477.1:c.597G>A p.Glu199= p.E199= ENST00000485477 199 gaG/gaA 0 Silent G 36 CPA5 SNP 7 A A 129789577 129789577 Baylor DDX46 9879 hgsc.bcm.edu GRCh37 5 134099771 134099771 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000354283.4:c.195G>T p.Arg65Ser p.R65S ENST00000354283 65 agG/agT 0 Missense_Mutation G 41 DDX46 SNP 5 G T 134127670 134127670 Baylor EHHADH 1962 hgsc.bcm.edu GRCh37 3 184922213 184922213 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000231887.3:c.901G>C p.Gly301Arg p.G301R ENST00000231887 NM_001166415.1 301 Ggt/Cgt 0 Missense_Mutation C 21 EHHADH SNP 3 C G 186404907 186404907 Baylor ELOVL3 83401 hgsc.bcm.edu GRCh37 10 103988226 103988226 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000370005.3:c.286G>A p.Gly96Arg p.G96R ENST00000370005 NM_152310.1 96 Ggg/Agg 0 Missense_Mutation G 39 ELOVL3 SNP 10 G A 103978216 103978216 Baylor ERCC6L 54821 hgsc.bcm.edu GRCh37 X 71425402 71425402 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000334463.3:c.3215G>C p.Gly1072Ala p.G1072A ENST00000334463 NM_017669.2 1072 gGa/gCa 0 Missense_Mutation C 30 ERCC6L SNP 23 C G 71342127 71342127 Baylor FSHR 2492 hgsc.bcm.edu GRCh37 2 49381418 49381418 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000406846.2:c.139A>T p.Asn47Tyr p.N47Y ENST00000406846 NM_000145.3 47 Aat/Tat 0 Missense_Mutation T 62 FSHR SNP 2 T A 49234922 49234922 Baylor GNL3L 54552 hgsc.bcm.edu GRCh37 X 54584948 54584948 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000336470.4:c.1526C>G p.Pro509Arg p.P509R ENST00000336470 NM_019067.5 509 cCt/cGt 0 Missense_Mutation C 24 GNL3L SNP 23 C G 54601673 54601673 Baylor HACE1 57531 hgsc.bcm.edu GRCh37 6 105178187 105178187 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262903.4:c.2618C>T p.Ser873Leu p.S873L ENST00000262903 NM_020771.3 873 tCa/tTa 0 Missense_Mutation G 45 HACE1 SNP 6 G A 105284880 105284880 Baylor HAO1 54363 hgsc.bcm.edu GRCh37 20 7866210 7866210 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000378789.3:c.1000G>A p.Glu334Lys p.E334K ENST00000378789 NM_017545.2 334 Gag/Aag 0 Missense_Mutation C 31 HAO1 SNP 20 C T 7814210 7814210 Baylor HAUS4 54930 hgsc.bcm.edu GRCh37 14 23417107 23417107 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000206474.7:c.678G>T p.Leu226= p.L226= ENST00000206474 226 ctG/ctT 0 Silent C 25 HAUS4 SNP 14 C A 22486947 22486947 Baylor IL10RA 3587 hgsc.bcm.edu GRCh37 11 117870266 117870266 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000227752.3:c.1647C>A p.Gly549= p.G549= ENST00000227752 NM_001558.3 549 ggC/ggA 0 Silent C 28 IL10RA SNP 11 C A 117375476 117375476 Baylor IPO9 55705 hgsc.bcm.edu GRCh37 1 201840382 201840382 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361565.4:c.2503G>A p.Ala835Thr p.A835T ENST00000361565 NM_018085.4 835 Gct/Act 0 Missense_Mutation G 46 IPO9 SNP 1 G A 200107005 200107005 Baylor KIAA1467 57613 hgsc.bcm.edu GRCh37 12 13221382 13221382 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000197268.8:c.1286+1G>C p.X429_splice ENST00000197268 NM_020853.1 0 Splice_Site_SNP G 44 KIAA1467 SNP 12 G C 13112649 13112649 Baylor KLF11 8462 hgsc.bcm.edu GRCh37 2 10188451 10188451 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000305883.1:c.987C>T p.Phe329= p.F329= ENST00000305883 NM_003597.4 329 ttC/ttT 0 Silent C 31 KLF11 SNP 2 C T 10105902 10105902 Baylor LEPR 3953 hgsc.bcm.edu GRCh37 1 66102662 66102662 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000349533.6:c.3462G>C p.Lys1154Asn p.K1154N ENST00000349533 NM_002303.5 1154 aaG/aaC 0 Missense_Mutation G 33 LEPR SNP 1 G C 65875250 65875250 Baylor MAN1B1 11253 hgsc.bcm.edu GRCh37 9 140002995 140002995 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371589.4:c.2052C>T p.Tyr684= p.Y684= ENST00000371589 NM_016219.4 684 taC/taT 0 Silent C 19 MAN1B1 SNP 9 C T 139122816 139122816 Baylor MARK1 4139 hgsc.bcm.edu GRCh37 1 220808727 220808727 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000366917.4:c.1132G>A p.Gly378Ser p.G378S ENST00000366917 NM_001286124.1 378 Ggt/Agt 0 Missense_Mutation G 47 MARK1 SNP 1 G A 218875350 218875350 Baylor MOSPD2 158747 hgsc.bcm.edu GRCh37 X 14929504 14929504 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000380492.3:c.848C>A p.Ser283Tyr p.S283Y ENST00000380492 NM_152581.3 283 tCt/tAt 0 Missense_Mutation C 32 MOSPD2 SNP 23 C A 14839425 14839425 Baylor MSN 4478 hgsc.bcm.edu GRCh37 X 64949370 64949370 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000360270.5:c.263A>C p.Asp88Ala p.D88A ENST00000360270 NM_002444.2 88 gAt/gCt 0 Missense_Mutation A 12 MSN SNP 23 A C 64866095 64866095 Baylor NAP1L3 4675 hgsc.bcm.edu GRCh37 X 92927561 92927561 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373079.3:c.743T>A p.Val248Glu p.V248E ENST00000373079 NM_004538.5 248 gTa/gAa 0 Missense_Mutation A 14 NAP1L3 SNP 23 A T 92814217 92814217 Baylor NCR3 259197 hgsc.bcm.edu GRCh37 6 31557641 31557641 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000340027.5:c.306C>G p.Asp102Glu p.D102E ENST00000340027 NM_147130.2 102 gaC/gaG 0 Missense_Mutation G 40 NCR3 SNP 6 G C 31665620 31665620 Baylor PHF19 26147 hgsc.bcm.edu GRCh37 9 123623421 123623421 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373896.3:c.1250A>G p.His417Arg p.H417R ENST00000373896 NM_015651.1 417 cAc/cGc 0 Missense_Mutation T 59 PHF19 SNP 9 T C 122663242 122663242 Baylor PPFIA1 8500 hgsc.bcm.edu GRCh37 11 70221056 70221056 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000253925.7:c.3172C>T p.Arg1058Cys p.R1058C ENST00000253925 NM_003626.3 1058 Cgc/Tgc 0 Missense_Mutation C 31 PPFIA1 SNP 11 C T 69898704 69898704 Baylor PTGFRN 5738 hgsc.bcm.edu GRCh37 1 117509940 117509940 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393203.2:c.2047T>C p.Phe683Leu p.F683L ENST00000393203 NM_020440.2 683 Ttc/Ctc 0 Missense_Mutation T 56 PTGFRN SNP 1 T C 117311463 117311463 Baylor PUM2 23369 hgsc.bcm.edu GRCh37 2 20494170 20494170 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000338086.5:c.1119A>G p.Gln373= p.Q373= ENST00000338086 NM_015317.1 373 caA/caG 0 Silent T 56 PUM2 SNP 2 T C 20357651 20357651 Baylor RAB3B 5865 hgsc.bcm.edu GRCh37 1 52442627 52442627 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371655.3:c.163G>C p.Val55Leu p.V55L ENST00000371655 NM_002867.3 55 Gtg/Ctg 0 Missense_Mutation C 19 RAB3B SNP 1 C G 52215215 52215215 Baylor RBBP6 5930 hgsc.bcm.edu GRCh37 16 24582325 24582325 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000319715.4:c.3938T>C p.Met1313Thr p.M1313T ENST00000319715 NM_006910.4 1313 aTg/aCg 0 Missense_Mutation T 51 RBBP6 SNP 16 T C 24489826 24489826 Baylor SLC9A4 389015 hgsc.bcm.edu GRCh37 2 103142730 103142730 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295269.4:c.1963A>C p.Asn655His p.N655H ENST00000295269 NM_001011552.3 655 Aat/Cat 0 Missense_Mutation A 9 SLC9A4 SNP 2 A C 102509162 102509162 Baylor SLFN13 146857 hgsc.bcm.edu GRCh37 17 33769259 33769260 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000285013.6:c.1244dup p.Leu416AlafsTer6 p.L416Afs*6 ENST00000285013 NM_144682.5 415 gag/gaAg 0 Frame_Shift_Ins - 28 SLFN13 INS 17 - T 30793373 30793372 Baylor SLFN13 146857 hgsc.bcm.edu GRCh37 17 33769264 33769264 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000285013.6:c.1240A>T p.Lys414Ter p.K414* ENST00000285013 NM_144682.5 414 Aag/Tag 0 Nonsense_Mutation T 62 SLFN13 SNP 17 T A 30793377 30793377 Baylor SMARCA2 6595 hgsc.bcm.edu GRCh37 9 2039514 2039514 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000382203.1:c.404C>A p.Ser135Tyr p.S135Y ENST00000382203 135 tCc/tAc 0 Missense_Mutation C 30 SMARCA2 SNP 9 C A 2029514 2029514 Baylor SMC3 9126 hgsc.bcm.edu GRCh37 10 112343657 112343657 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361804.4:c.1028A>T p.Glu343Val p.E343V ENST00000361804 NM_005445.3 343 gAa/gTa 0 Missense_Mutation A 9 SMC3 SNP 10 A T 112333647 112333647 Baylor TMEM62 80021 hgsc.bcm.edu GRCh37 15 43438750 43438750 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000260403.2:c.536G>A p.Gly179Asp p.G179D ENST00000260403 NM_024956.3 179 gGc/gAc 0 Missense_Mutation G 42 TMEM62 SNP 15 G A 41226042 41226042 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578556 7578556 + splice_acceptor_variant Splice_Site SNP T T C novel Unknown TCGA-24-1557-01 TCGA-24-1557-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.376-2A>G p.X126_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP T 55 TP53 SNP 17 T C 7519281 7519281 Baylor EVC 2121 genome.wustl.edu GRCh37 4 5733349 5733349 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382674.2:c.582G>T p.Arg194= p.R194= ENST00000382674 194 cgG/cgT 0 Silent G 43 EVC SNP 4 G T 5784250 5784250 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577580 7577580 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.701A>G p.Tyr234Cys p.Y234C ENST00000269305 NM_001126112.2 234 tAc/tGc 0 Missense_Mutation T 57 TP53 SNP 17 T C 7518305 7518305 WashU SETD5 55209 genome.wustl.edu GRCh37 3 9475570 9475570 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000402198.1:c.113G>A p.Ser38Asn p.S38N ENST00000402198 NM_001080517.1 38 aGc/aAc 0 Missense_Mutation G 34 SETD5 SNP 3 G A 9450570 9450570 WashU RDH8 50700 genome.wustl.edu GRCh37 19 10127889 10127889 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000591589.1:c.320T>A p.Leu107Gln p.L107Q ENST00000591589 107 cTg/cAg 0 Missense_Mutation T 55 RDH8 SNP 19 T A 9988889 9988889 WashU XPC 7508 genome.wustl.edu GRCh37 3 14211987 14211987 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000285021.7:c.363C>A p.Asp121Glu p.D121E ENST00000285021 NM_004628.4 121 gaC/gaA 0 Missense_Mutation G 48 XPC SNP 3 G T 14186991 14186991 WashU MYH11 4629 genome.wustl.edu GRCh37 16 15835615 15835615 + splice_donor_variant Splice_Site SNP A A T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396324.3:c.2673+2T>A p.X891_splice ENST00000396324 NM_001040114.1 0 Splice_Site_SNP A 14 MYH11 SNP 16 A T 15743116 15743116 WashU EPS15L1 58513 genome.wustl.edu GRCh37 19 16472718 16472718 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000455140.2:c.2458G>C p.Asp820His p.D820H ENST00000455140 NM_001258374.1 820 Gac/Cac 0 Missense_Mutation C 29 EPS15L1 SNP 19 C G 16333718 16333718 WashU PDE4C 5143 genome.wustl.edu GRCh37 19 18327666 18327666 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355502.3:c.1370T>C p.Leu457Pro p.L457P ENST00000355502 457 cTg/cCg 0 Missense_Mutation A 7 PDE4C SNP 19 A G 18188666 18188666 WashU DNAH3 55567 genome.wustl.edu GRCh37 16 21063050 21063050 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261383.3:c.4179T>C p.Tyr1393= p.Y1393= ENST00000261383 NM_017539.1 1393 taT/taC 0 Silent A 8 DNAH3 SNP 16 A G 20970551 20970551 WashU OR4E2 26686 genome.wustl.edu GRCh37 14 22134199 22134199 + synonymous_variant Silent SNP C C G novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000408935.1:c.903C>G p.Leu301= p.L301= ENST00000408935 NM_001001912.1 301 ctC/ctG 0 Silent C 29 OR4E2 SNP 14 C G 21204039 21204039 WashU MYO18A 399687 genome.wustl.edu GRCh37 17 27417887 27417887 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000527372.1:c.5245G>C p.Glu1749Gln p.E1749Q ENST00000527372 NM_078471.3 1749 Gag/Cag 0 Missense_Mutation C 30 MYO18A SNP 17 C G 24442013 24442013 WashU DFNA5 1687 genome.wustl.edu GRCh37 7 24784261 24784261 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342947.3:c.324C>T p.Arg108= p.R108= ENST00000342947 NM_004403.2 108 cgC/cgT 0 Silent G 38 DFNA5 SNP 7 G A 24750786 24750786 WashU DNMT3A 1788 genome.wustl.edu GRCh37 2 25457159 25457159 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264709.3:c.2728G>A p.Ala910Thr p.A910T ENST00000264709 NM_175629.2 910 Gcg/Acg 0 Missense_Mutation C 25 DNMT3A SNP 2 C T 25310663 25310663 WashU ITPR2 3709 genome.wustl.edu GRCh37 12 26572092 26572092 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381340.3:c.7000A>C p.Thr2334Pro p.T2334P ENST00000381340 NM_002223.2 2334 Acc/Ccc 0 Missense_Mutation T 59 ITPR2 SNP 12 T G 26463359 26463359 WashU DEPDC5 9681 genome.wustl.edu GRCh37 22 32206507 32206507 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382112.3:c.1325C>T p.Ser442Phe p.S442F ENST00000382112 NM_001136029.2 442 tCt/tTt 0 Missense_Mutation C 28 DEPDC5 SNP 22 C T 30536507 30536507 WashU BPIFA2 140683 genome.wustl.edu GRCh37 20 31760758 31760758 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253362.2:c.178G>A p.Val60Ile p.V60I ENST00000253362 60 Gtc/Atc 0 Missense_Mutation G 44 C20orf70 SNP 20 G A 31224419 31224419 WashU TXLNA 200081 genome.wustl.edu GRCh37 1 32660681 32660681 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373609.1:c.1526G>T p.Gly509Val p.G509V ENST00000373609 509 gGg/gTg 0 Missense_Mutation G 43 TXLNA SNP 1 G T 32433268 32433268 WashU CLASP2 23122 genome.wustl.edu GRCh37 3 33543184 33543184 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000468888.2:c.4418A>T p.Asp1473Val p.D1473V ENST00000468888 1473 gAt/gTt 0 Missense_Mutation T 50 CLASP2 SNP 3 T A 33518188 33518188 WashU EIF3L 51386 genome.wustl.edu GRCh37 22 38266253 38266253 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000412331.2:c.650C>G p.Ser217Cys p.S217C ENST00000412331 NM_016091.3 217 tCc/tGc 0 Missense_Mutation C 30 EIF3L SNP 22 C G 36596199 36596199 WashU C5orf42 65250 genome.wustl.edu GRCh37 5 37169590 37169590 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000425232.2:c.6536C>A p.Ser2179Tyr p.S2179Y ENST00000425232 NM_023073.3 2179 tCt/tAt 0 Missense_Mutation G 33 C5orf42 SNP 5 G T 37205347 37205347 WashU DNAH8 1769 genome.wustl.edu GRCh37 6 38998056 38998056 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359357.3:c.13361A>T p.Lys4454Met p.K4454M ENST00000359357 4454 aAg/aTg 0 Missense_Mutation A 3 DNAH8 SNP 6 A T 39106034 39106034 WashU PRPH2 5961 genome.wustl.edu GRCh37 6 42690019 42690019 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000230381.5:c.54A>T p.Gln18His p.Q18H ENST00000230381 NM_000322.4 18 caA/caT 0 Missense_Mutation T 56 PRPH2 SNP 6 T A 42797997 42797997 WashU TRAPPC10 7109 genome.wustl.edu GRCh37 21 45451972 45451972 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000291574.4:c.68G>A p.Cys23Tyr p.C23Y ENST00000291574 NM_003274.4 23 tGt/tAt 0 Missense_Mutation G 44 TRAPPC10 SNP 21 G A 44276400 44276400 WashU GNPDA2 132789 genome.wustl.edu GRCh37 4 44719163 44719163 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295448.3:c.376A>T p.Lys126Ter p.K126* ENST00000295448 NM_138335.2 126 Aaa/Taa 0 Nonsense_Mutation T 64 GNPDA2 SNP 4 T A 44413920 44413920 WashU ST18 9705 genome.wustl.edu GRCh37 8 53092685 53092685 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276480.7:c.274G>A p.Ala92Thr p.A92T ENST00000276480 NM_014682.2 92 Gca/Aca 0 Missense_Mutation C 27 ST18 SNP 8 C T 53255238 53255238 WashU NUP93 9688 genome.wustl.edu GRCh37 16 56866216 56866216 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308159.5:c.1261G>T p.Val421Leu p.V421L ENST00000308159 NM_014669.4 421 Gtg/Ttg 0 Missense_Mutation G 36 NUP93 SNP 16 G T 55423717 55423717 WashU OR5AK3P 81228 genome.wustl.edu GRCh37 11 56739298 56739298 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000527486.1:n.974G>A *325* ENST00000527486 0 Missense_Mutation G 48 OR5AK3P SNP 11 G A 56495874 56495874 WashU NLRP13 126204 genome.wustl.edu GRCh37 19 56407362 56407362 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342929.3:c.3081G>T p.Met1027Ile p.M1027I ENST00000342929 NM_176810.2 1027 atG/atT 0 Missense_Mutation C 25 NLRP13 SNP 19 C A 61099174 61099174 WashU ZNF304 57343 genome.wustl.edu GRCh37 19 57867886 57867886 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000391705.3:c.649T>C p.Tyr217His p.Y217H ENST00000391705 NM_020657.2 217 Tat/Cat 0 Missense_Mutation T 53 ZNF304 SNP 19 T C 62559698 62559698 WashU RIMS1 22999 genome.wustl.edu GRCh37 6 72678727 72678727 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000521978.1:c.206C>G p.Thr69Arg p.T69R ENST00000521978 NM_014989.5 69 aCa/aGa 0 Missense_Mutation C 17 RIMS1 SNP 6 C G 72735448 72735448 WashU PSAP 5660 genome.wustl.edu GRCh37 10 73581662 73581662 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394936.3:c.880C>T p.Pro294Ser p.P294S ENST00000394936 294 Cct/Tct 0 Missense_Mutation G 43 PSAP SNP 10 G A 73251668 73251668 WashU ABCB4 5244 genome.wustl.edu GRCh37 7 87032469 87032469 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265723.4:c.3636G>A p.Leu1212= p.L1212= ENST00000265723 NM_000443.3 1212 ctG/ctA 0 Silent C 21 ABCB4 SNP 7 C T 86870405 86870405 WashU GPR98 84059 genome.wustl.edu GRCh37 5 90052961 90052961 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405460.2:c.11923G>C p.Glu3975Gln p.E3975Q ENST00000405460 NM_032119.3 3975 Gaa/Caa 0 Missense_Mutation G 45 GPR98 SNP 5 G C 90088717 90088717 WashU OMD 4958 genome.wustl.edu GRCh37 9 95179146 95179146 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375550.4:c.695C>A p.Pro232His p.P232H ENST00000375550 NM_005014.2 232 cCt/cAt 0 Missense_Mutation G 35 OMD SNP 9 G T 94218967 94218967 WashU IGHV3-48 genome.wustl.edu GRCh37 14 106993922 106993922 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390624.2:c.243C>A p.Asp81Glu p.D81E ENST00000390624 81 gaC/gaA 0 Missense_Mutation G 36 ENSG00000211964 SNP 14 G T 106064967 106064967 WashU NPAT 4863 genome.wustl.edu GRCh37 11 108032261 108032261 + synonymous_variant Silent SNP T T C novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000278612.8:c.3552A>G p.Ser1184= p.S1184= ENST00000278612 NM_002519.2 1184 tcA/tcG 0 Silent T 63 NPAT SNP 11 T C 107537471 107537471 WashU SULT1C2 6819 genome.wustl.edu GRCh37 2 108921127 108921127 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326853.5:c.506A>G p.Glu169Gly p.E169G ENST00000326853 NM_176825.2 169 gAg/gGg 0 Missense_Mutation A 11 SULT1C2 SNP 2 A G 108287559 108287559 WashU AKNAD1 254268 genome.wustl.edu GRCh37 1 109394765 109394765 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370001.3:c.522G>A p.Pro174= p.P174= ENST00000370001 NM_152763.4 174 ccG/ccA 0 Silent C 31 AKNAD1 SNP 1 C T 109196288 109196288 WashU ADORA3 140 genome.wustl.edu GRCh37 1 112045738 112045738 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369716.4:c.239T>A p.Phe80Tyr p.F80Y ENST00000369716 NM_020683.6 80 tTc/tAc 0 Missense_Mutation A 9 ADORA3 SNP 1 A T 111847261 111847261 WashU CSMD3 114788 genome.wustl.edu GRCh37 8 113323290 113323290 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297405.5:c.7802G>T p.Arg2601Leu p.R2601L ENST00000297405 NM_198123.1 2601 cGa/cTa 0 Missense_Mutation C 31 CSMD3 SNP 8 C A 113392466 113392466 WashU VTI1A 143187 genome.wustl.edu GRCh37 10 114575107 114575107 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393077.2:c.619C>G p.Leu207Val p.L207V ENST00000393077 NM_145206.2 207 Ctg/Gtg 0 Missense_Mutation C 24 VTI1A SNP 10 C G 114565097 114565097 WashU AQPEP 206338 genome.wustl.edu GRCh37 5 115336129 115336129 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357872.4:c.1516-1G>C p.X506_splice ENST00000357872 NM_173800.4 0 Splice_Site_SNP G 35 LVRN SNP 5 G C 115364028 115364028 WashU KIAA1210 57481 genome.wustl.edu GRCh37 X 118239038 118239038 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000402510.2:c.985T>A p.Leu329Met p.L329M ENST00000402510 NM_020721.1 329 Ttg/Atg 0 Missense_Mutation A 3 KIAA1210 SNP 23 A T 118123066 118123066 WashU POLQ 10721 genome.wustl.edu GRCh37 3 121207401 121207401 + synonymous_variant Silent SNP T T A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264233.5:c.4377A>T p.Ile1459= p.I1459= ENST00000264233 NM_199420.3 1459 atA/atT 0 Silent T 57 POLQ SNP 3 T A 122690091 122690091 WashU FAM91A1 157769 genome.wustl.edu GRCh37 8 124811838 124811838 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334705.7:c.1639C>G p.Pro547Ala p.P547A ENST00000334705 NM_144963.2 547 Cca/Gca 0 Missense_Mutation C 18 FAM91A1 SNP 8 C G 124881019 124881019 WashU AIFM1 9131 genome.wustl.edu GRCh37 X 129265759 129265759 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287295.3:c.1464C>A p.Pro488= p.P488= ENST00000287295 NM_004208.3 488 ccC/ccA 0 Silent G 39 AIFM1 SNP 23 G T 129093440 129093440 WashU PCDHGC5 56097 genome.wustl.edu GRCh37 5 140869726 140869726 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000252087.1:c.919C>A p.Pro307Thr p.P307T ENST00000252087 NM_018929.2 307 Ccc/Acc 0 Missense_Mutation C 30 PCDHGC5 SNP 5 A A 140849910 140849910 WashU UBE3C 9690 genome.wustl.edu GRCh37 7 157041088 157041088 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000348165.5:c.2508G>A p.Glu836= p.E836= ENST00000348165 NM_014671.2 836 gaG/gaA 0 Silent G 34 UBE3C SNP 7 G A 156733849 156733849 WashU SCN1A 6323 genome.wustl.edu GRCh37 2 166852522 166852522 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303395.4:c.4581+1G>A p.X1527_splice ENST00000303395 0 Splice_Site_SNP C 20 SCN1A SNP 2 C T 166560768 166560768 WashU PPIG 9360 genome.wustl.edu GRCh37 2 170493347 170493347 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260970.3:c.1579A>G p.Ser527Gly p.S527G ENST00000260970 NM_004792.2 527 Agt/Ggt 0 Missense_Mutation A 11 PPIG SNP 2 A G 170201593 170201593 WashU FAM20B 9917 genome.wustl.edu GRCh37 1 179033499 179033499 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263733.4:c.806G>T p.Gly269Val p.G269V ENST00000263733 NM_014864.3 269 gGc/gTc 0 Missense_Mutation G 42 FAM20B SNP 1 G T 177300122 177300122 WashU PTGS2 5743 genome.wustl.edu GRCh37 1 186645722 186645722 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367468.5:c.847G>A p.Gly283Ser p.G283S ENST00000367468 NM_000963.2 283 Ggt/Agt 0 Missense_Mutation C 21 PTGS2 SNP 1 C T 184912345 184912345 WashU ACSL1 2180 genome.wustl.edu GRCh37 4 185679025 185679025 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000515030.1:c.1832G>A p.Trp611Ter p.W611* ENST00000515030 NM_001286708.1 611 tGg/tAg 0 Nonsense_Mutation C 21 ACSL1 SNP 4 C T 185916019 185916019 WashU ARHGEF10L 55160 genome.wustl.edu GRCh37 1 17950939 17950939 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000361221.3:c.1258G>A p.Ala420Thr p.A420T ENST00000361221 NM_018125.3 420 Gcc/Acc 0 Missense_Mutation G 46 ARHGEF10L SNP 1 G A 17823526 17823526 WashU EVI5 7813 genome.wustl.edu GRCh37 1 92979338 92979338 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370331.1:c.2308C>A p.Pro770Thr p.P770T ENST00000370331 NM_005665.4 770 Ccc/Acc 0 Missense_Mutation G 43 EVI5 SNP 1 G T 92751926 92751926 WashU MOGAT2 80168 genome.wustl.edu GRCh37 11 75428949 75428949 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000198801.5:c.16C>A p.Pro6Thr p.P6T ENST00000198801 NM_025098.2 6 Ccc/Acc 0 Missense_Mutation C 26 MOGAT2 SNP 11 C A 75106597 75106597 WashU MOGAT2 80168 genome.wustl.edu GRCh37 11 75439119 75439119 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000198801.5:c.580G>A p.Ala194Thr p.A194T ENST00000198801 NM_025098.2 194 Gcc/Acc 0 Missense_Mutation G 46 MOGAT2 SNP 11 G A 75116767 75116767 WashU MEFV 4210 genome.wustl.edu GRCh37 16 3299648 3299648 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000219596.1:c.1043G>A p.Arg348His p.R348H ENST00000219596 NM_000243.2 348 cGc/cAc 0 Missense_Mutation C 27 MEFV SNP 16 C T 3239649 3239649 WashU PDIA5 10954 genome.wustl.edu GRCh37 3 122880170 122880170 + splice_region_variant,synonymous_variant Splice_Region SNP T T A novel Unknown TCGA-04-1361-01 TCGA-04-1361-11 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316218.7:c.1347T>A p.Ile449= p.I449= ENST00000316218 NM_006810.3 449 atT/atA 0 Silent T 63 PDIA5 SNP 3 T A 124362860 124362860 WashU SLC12A2 6558 genome.wustl.edu GRCh37 5 127484533 127484533 + missense_variant Missense_Mutation SNP T T G Unknown TCGA-04-1361-01 TCGA-04-1361-11 T T T G T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000262461.2:c.1969T>G p.Leu657Val p.L657V ENST00000262461 NM_001046.2 657 Tta/Gta 0 Missense_Mutation T 56 SLC12A2 SNP 5 T G 127512432 127512432 WashU CHST9 83539 genome.wustl.edu GRCh37 18 24496327 24496327 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000284224.8:c.1228G>A p.Val410Met p.V410M ENST00000284224 NM_031422.5 410 Gtg/Atg 0 Missense_Mutation C 19 CHST9 SNP 18 C T 22750325 22750325 WashU TMEM59L 25789 genome.wustl.edu GRCh37 19 18727888 18727888 + missense_variant Missense_Mutation SNP C C A Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C A C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000600490.1:c.640C>A p.Pro214Thr p.P214T ENST00000600490 214 Cct/Act 0 Missense_Mutation C 22 TMEM59L SNP 19 C A 18588888 18588888 WashU ATP13A1 57130 genome.wustl.edu GRCh37 19 19756787 19756787 + stop_gained Nonsense_Mutation SNP G G A Unknown TCGA-04-1361-01 TCGA-04-1361-11 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000357324.6:c.3256C>T p.Gln1086Ter p.Q1086* ENST00000357324 NM_020410.2 1086 Cag/Tag 0 Nonsense_Mutation G 46 ATP13A1 SNP 19 G A 19617787 19617787 WashU MST4 51765 genome.wustl.edu GRCh37 X 131207038 131207038 + synonymous_variant Silent SNP C C T Unknown TCGA-04-1361-01 TCGA-04-1361-11 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000394334.2:c.1143C>T p.Leu381= p.L381= ENST00000394334 NM_016542.3 381 ctC/ctT 0 Silent C 31 MST4 SNP 23 C T 131034719 131034719 WashU PFKFB1 5207 genome.wustl.edu GRCh37 X 55020432 55020432 + synonymous_variant Silent SNP T T G Unknown TCGA-04-1361-01 TCGA-04-1361-11 T T T G T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000375006.3:c.9A>C p.Pro3= p.P3= ENST00000375006 NM_001271804.1 3 ccA/ccC 0 Silent T 55 PFKFB1 SNP 23 T G 55037157 55037157 WashU AADACL4 343066 broad.mit.edu GRCh37 1 12726045 12726045 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000376221.1:c.523A>C p.Lys175Gln p.K175Q ENST00000376221 NM_001013630.1 175 Aag/Cag 0 Missense_Mutation A 9 AADACL4 SNP 1 A C 12648632 12648632 Broad TRIM63 84676 broad.mit.edu GRCh37 1 26387689 26387689 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000374272.3:c.469G>T p.Ala157Ser p.A157S ENST00000374272 NM_032588.3 157 Gcc/Tcc 0 Missense_Mutation C 26 TRIM63 SNP 1 C A 26260276 26260276 Broad RPE65 6121 broad.mit.edu GRCh37 1 68904683 68904683 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000262340.5:c.940C>G p.His314Asp p.H314D ENST00000262340 NM_000329.2 314 Cac/Gac 0 Missense_Mutation G 45 RPE65 SNP 1 G C 68677271 68677271 Broad PTGFR 5737 broad.mit.edu GRCh37 1 78958855 78958855 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000370757.3:c.427C>A p.His143Asn p.H143N ENST00000370757 NM_000959.3 143 Cat/Aat 0 Missense_Mutation C 29 PTGFR SNP 1 C A 78731443 78731443 Broad ODF2L 57489 broad.mit.edu GRCh37 1 86822227 86822227 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000359242.3:c.1418C>T p.Thr473Met p.T473M ENST00000359242 NM_001007022.2 473 aCg/aTg 0 Missense_Mutation G 40 ODF2L SNP 1 G A 86594815 86594815 Broad ABCA4 24 broad.mit.edu GRCh37 1 94522197 94522197 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000370225.3:c.2342C>A p.Ala781Asp p.A781D ENST00000370225 NM_000350.2 781 gCc/gAc 0 Missense_Mutation G 42 ABCA4 SNP 1 G T 94294785 94294785 Broad LCE2C 353140 broad.mit.edu GRCh37 1 152648709 152648709 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000368783.1:c.218T>G p.Leu73Arg p.L73R ENST00000368783 NM_178429.3 73 cTg/cGg 0 Missense_Mutation T 55 LCE2C SNP 1 T G 150915333 150915333 Broad LMNA 4000 broad.mit.edu GRCh37 1 156108320 156108320 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000368300.4:c.1740C>A p.Asn580Lys p.N580K ENST00000368300 NM_170707.3 580 aaC/aaA 0 Missense_Mutation C 18 LMNA SNP 1 C A 154374944 154374944 Broad LBR 3930 broad.mit.edu GRCh37 1 225598020 225598020 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000338179.2:c.1287C>G p.Leu429= p.L429= ENST00000338179 NM_194442.2 429 ctC/ctG 0 Silent G 33 LBR SNP 1 G C 223664643 223664643 Broad CUBN 8029 broad.mit.edu GRCh37 10 17142218 17142218 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000377833.4:c.1551T>C p.Thr517= p.T517= ENST00000377833 NM_001081.3 517 acT/acC 0 Silent A 3 CUBN SNP 10 A G 17182224 17182224 Broad MYPN 84665 broad.mit.edu GRCh37 10 69955245 69955245 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000358913.5:c.3114T>G p.Ser1038Arg p.S1038R ENST00000358913 NM_032578.3 1038 agT/agG 0 Missense_Mutation T 60 MYPN SNP 10 T G 69625251 69625251 Broad ADAMTS14 140766 broad.mit.edu GRCh37 10 72500889 72500889 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000373208.1:c.1904A>T p.His635Leu p.H635L ENST00000373208 NM_139155.2 635 cAc/cTc 0 Missense_Mutation A 6 ADAMTS14 SNP 10 A T 72170895 72170895 Broad PACS1 55690 broad.mit.edu GRCh37 11 65838133 65838133 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000320580.4:c.176C>G p.Ser59Cys p.S59C ENST00000320580 NM_018026.3 59 tCc/tGc 0 Missense_Mutation C 30 PACS1 SNP 11 C G 65594709 65594709 Broad SERPINH1 871 broad.mit.edu GRCh37 11 75277634 75277634 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000524558.1:c.240C>G p.Leu80= p.L80= ENST00000524558 80 ctC/ctG 0 Silent C 31 SERPINH1 SNP 11 C G 74955282 74955282 Broad FAT3 120114 broad.mit.edu GRCh37 11 92086995 92086995 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000298047.6:c.1717G>A p.Asp573Asn p.D573N ENST00000298047 573 Gac/Aac 0 Missense_Mutation G 37 FAT3 SNP 11 G A 91726643 91726643 Broad WNK1 65125 broad.mit.edu GRCh37 12 939281 939281 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000315939.6:c.1266C>T p.Tyr422= p.Y422= ENST00000315939 NM_018979.3 422 taC/taT 0 Silent C 20 WNK1 SNP 12 C T 809542 809542 Broad H2AFJ 55766 broad.mit.edu GRCh37 12 14927683 14927683 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000544848.1:c.279G>C p.Glu93Asp p.E93D ENST00000544848 NM_177925.2 93 gaG/gaC 0 Missense_Mutation G 36 H2AFJ SNP 12 G C 14818950 14818950 Broad STK38L 23012 broad.mit.edu GRCh37 12 27470948 27470948 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000389032.3:c.1075C>A p.Leu359Ile p.L359I ENST00000389032 NM_015000.3 359 Ctc/Atc 0 Missense_Mutation C 32 STK38L SNP 12 C A 27362215 27362215 Broad CEP290 80184 broad.mit.edu GRCh37 12 88465654 88465654 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000552810.1:c.5759C>G p.Ala1920Gly p.A1920G ENST00000552810 NM_025114.3 1920 gCc/gGc 0 Missense_Mutation G 42 CEP290 SNP 12 G C 86989785 86989785 Broad MYH7 4625 broad.mit.edu GRCh37 14 23901923 23901923 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000355349.3:c.427C>T p.Arg143Trp p.R143W ENST00000355349 NM_000257.2 143 Cgg/Tgg 0 Missense_Mutation G 39 MYH7 SNP 14 G A 22971763 22971763 Broad DLK1 8788 broad.mit.edu GRCh37 14 101201221 101201221 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000341267.4:c.1140C>T p.Asp380= p.D380= ENST00000341267 NM_003836.5 380 gaC/gaT 0 Silent C 19 DLK1 SNP 14 C T 100270974 100270974 Broad THBS1 7057 broad.mit.edu GRCh37 15 39876542 39876542 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000260356.5:c.945T>A p.Pro315= p.P315= ENST00000260356 NM_003246.2 315 ccT/ccA 0 Silent T 54 THBS1 SNP 15 T A 37663834 37663834 Broad TTBK2 146057 broad.mit.edu GRCh37 15 43045190 43045190 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000267890.6:c.2254C>G p.Gln752Glu p.Q752E ENST00000267890 NM_173500.3 752 Caa/Gaa 0 Missense_Mutation G 45 TTBK2 SNP 15 G C 40832482 40832482 Broad HAPLN3 145864 broad.mit.edu GRCh37 15 89422472 89422472 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000359595.3:c.522C>T p.Asn174= p.N174= ENST00000359595 NM_178232.2 174 aaC/aaT 0 Silent G 40 HAPLN3 SNP 15 G A 87223476 87223476 Broad IL4R 3566 broad.mit.edu GRCh37 16 27374402 27374402 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000395762.2:c.1729G>A p.Glu577Lys p.E577K ENST00000395762 NM_000418.3 577 Gag/Aag 0 Missense_Mutation G 41 IL4R SNP 16 G A 27281903 27281903 Broad TUBB3 10381 broad.mit.edu GRCh37 16 89999963 89999963 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000315491.7:c.254T>C p.Phe85Ser p.F85S ENST00000315491 NM_006086.3 85 tTc/tCc 0 Missense_Mutation T 62 TUBB3 SNP 16 T C 88527464 88527464 Broad YWHAE 7531 broad.mit.edu GRCh37 17 1303362 1303362 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000264335.8:c.43G>T p.Glu15Ter p.E15* ENST00000264335 NM_006761.4 15 Gag/Tag 0 Nonsense_Mutation C 31 YWHAE SNP 17 C A 1250112 1250112 Broad TP53 7157 broad.mit.edu GRCh37 17 7577105 7577105 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.833C>G p.Pro278Arg p.P278R ENST00000269305 NM_001126112.2 278 cCt/cGt 0 Missense_Mutation G 35 TP53 SNP 17 G C 7517830 7517830 Broad TNS4 84951 broad.mit.edu GRCh37 17 38636046 38636046 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000254051.6:c.1790G>A p.Gly597Glu p.G597E ENST00000254051 NM_032865.5 597 gGa/gAa 0 Missense_Mutation C 30 TNS4 SNP 17 C T 35889572 35889572 Broad WFIKKN2 124857 broad.mit.edu GRCh37 17 48917337 48917337 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000311378.4:c.688C>T p.Leu230Phe p.L230F ENST00000311378 NM_175575.5 230 Ctc/Ttc 0 Missense_Mutation C 24 WFIKKN2 SNP 17 C T 46272336 46272336 Broad COX11 1353 broad.mit.edu GRCh37 17 53045991 53045991 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000299335.3:c.17G>T p.Arg6Leu p.R6L ENST00000299335 NM_004375.3 6 cGt/cTt 0 Missense_Mutation C 19 COX11 SNP 17 C A 50400990 50400990 Broad TTYH2 94015 broad.mit.edu GRCh37 17 72246457 72246457 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000269346.4:c.1077C>T p.His359= p.H359= ENST00000269346 NM_032646.5 359 caC/caT 0 Silent C 18 TTYH2 SNP 17 C T 69758052 69758052 Broad SOGA2 23255 broad.mit.edu GRCh37 18 8825314 8825314 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000359865.3:c.3806C>T p.Ser1269Phe p.S1269F ENST00000359865 NM_015210.3 1269 tCc/tTc 0 Missense_Mutation C 30 KIAA0802 SNP 18 C T 8815314 8815314 Broad LAMA3 3909 broad.mit.edu GRCh37 18 21419836 21419836 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000313654.9:c.3279C>G p.Pro1093= p.P1093= ENST00000313654 NM_198129.1 1093 ccC/ccG 0 Silent C 22 LAMA3 SNP 18 C G 19673834 19673834 Broad MUC16 94025 broad.mit.edu GRCh37 19 9083768 9083768 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000397910.4:c.8047G>A p.Glu2683Lys p.E2683K ENST00000397910 NM_024690.2 2683 Gag/Aag 0 Missense_Mutation C 32 MUC16 SNP 19 C T 8944768 8944768 Broad ILF3 3609 broad.mit.edu GRCh37 19 10793341 10793341 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000449870.1:c.1509C>T p.Ser503= p.S503= ENST00000449870 NM_017620.2 503 tcC/tcT 0 Silent C 21 ILF3 SNP 19 C T 10654341 10654341 Broad GATAD2A 54815 broad.mit.edu GRCh37 19 19612163 19612163 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000360315.3:c.1438G>C p.Gly480Arg p.G480R ENST00000360315 NM_017660.3 480 Ggc/Cgc 0 Missense_Mutation G 43 GATAD2A SNP 19 G C 19473163 19473163 Broad PRODH2 58510 broad.mit.edu GRCh37 19 36303153 36303153 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000301175.3:c.621C>A p.Asn207Lys p.N207K ENST00000301175 NM_021232.1 207 aaC/aaA 0 Missense_Mutation G 44 PRODH2 SNP 19 G T 40994993 40994993 Broad TEX101 83639 broad.mit.edu GRCh37 19 43920393 43920393 + splice_region_variant,synonymous_variant Splice_Region SNP A A T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000602198.1:c.261A>T p.Ala87= p.A87= ENST00000602198 NM_031451.4 87 gcA/gcT 0 Silent A 7 TEX101 SNP 19 A T 48612233 48612233 Broad ZNF610 162963 broad.mit.edu GRCh37 19 52869553 52869553 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000403906.3:c.922G>A p.Val308Ile p.V308I ENST00000403906 NM_001161425.1 308 Gta/Ata 0 Missense_Mutation G 48 ZNF610 SNP 19 G A 57561365 57561365 Broad ZNF552 79818 broad.mit.edu GRCh37 19 58319475 58319475 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000391701.1:c.1157A>G p.Glu386Gly p.E386G ENST00000391701 NM_024762.3 386 gAa/gGa 0 Missense_Mutation T 62 ZNF552 SNP 19 T C 63011287 63011287 Broad ZSCAN1 284312 broad.mit.edu GRCh37 19 58563899 58563899 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000282326.1:c.507A>T p.Ala169= p.A169= ENST00000282326 NM_182572.3 169 gcA/gcT 0 Silent A 6 ZSCAN1 SNP 19 A T 63255711 63255711 Broad ETAA1 54465 broad.mit.edu GRCh37 2 67631703 67631703 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000272342.5:c.1889G>C p.Ser630Thr p.S630T ENST00000272342 NM_019002.3 630 aGt/aCt 0 Missense_Mutation G 36 ETAA1 SNP 2 G C 67485207 67485207 Broad CNGA3 1261 broad.mit.edu GRCh37 2 99013594 99013594 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000393504.1:c.1961C>T p.Thr654Ile p.T654I ENST00000393504 NM_001298.2 654 aCc/aTc 0 Missense_Mutation C 18 CNGA3 SNP 2 C T 98380026 98380026 Broad LYG2 254773 broad.mit.edu GRCh37 2 99861869 99861869 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000333017.2:c.237T>G p.Pro79= p.P79= ENST00000333017 NM_175735.3 79 ccT/ccG 0 Silent A 3 LYG2 SNP 2 A C 99228301 99228301 Broad TANC1 85461 broad.mit.edu GRCh37 2 160086189 160086189 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000263635.6:c.4252A>T p.Lys1418Ter p.K1418* ENST00000263635 NM_033394.2 1418 Aaa/Taa 0 Nonsense_Mutation A 5 TANC1 SNP 2 A T 159794435 159794435 Broad DYTN 391475 broad.mit.edu GRCh37 2 207516606 207516606 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000452335.2:c.1673C>T p.Ala558Val p.A558V ENST00000452335 NM_001093730.1 558 gCt/gTt 0 Missense_Mutation G 34 DYTN SNP 2 G A 207224851 207224851 Broad SLC4A11 83959 broad.mit.edu GRCh37 20 3215474 3215474 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000380059.3:c.284T>A p.Phe95Tyr p.F95Y ENST00000380059 NM_001174090.1 95 tTc/tAc 0 Missense_Mutation A 9 SLC4A11 SNP 20 A T 3163474 3163474 Broad WFDC5 149708 broad.mit.edu GRCh37 20 43739361 43739361 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000372789.4:c.141C>T p.Asp47= p.D47= ENST00000372789 NM_145652.3 47 gaC/gaT 0 Silent G 44 WFDC5 SNP 20 G A 43172775 43172775 Broad STAU1 6780 broad.mit.edu GRCh37 20 47736556 47736556 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000371856.2:c.1076C>T p.Ala359Val p.A359V ENST00000371856 NM_017453.2 359 gCg/gTg 0 Missense_Mutation G 38 STAU1 SNP 20 G A 47169963 47169963 Broad GNAS 2778 broad.mit.edu GRCh37 20 57480494 57480494 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000371085.3:c.489C>G p.Tyr163Ter p.Y163* ENST00000371085 NM_000516.4 163 taC/taG 0 Nonsense_Mutation C 19 GNAS SNP 20 C G 56913889 56913889 Broad GGT5 2687 broad.mit.edu GRCh37 22 24622670 24622670 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000398292.3:c.967G>A p.Val323Ile p.V323I ENST00000398292 323 Gta/Ata 0 Missense_Mutation C 17 GGT5 SNP 22 C T 22952670 22952670 Broad WNT7A 7476 broad.mit.edu GRCh37 3 13860896 13860896 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000285018.4:c.595G>C p.Glu199Gln p.E199Q ENST00000285018 NM_004625.3 199 Gaa/Caa 0 Missense_Mutation C 30 WNT7A SNP 3 C G 13835897 13835897 Broad CAPN7 23473 broad.mit.edu GRCh37 3 15282118 15282118 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000253693.2:c.1546G>C p.Asp516His p.D516H ENST00000253693 NM_014296.2 516 Gac/Cac 0 Missense_Mutation G 33 CAPN7 SNP 3 G C 15257122 15257122 Broad DNAH1 25981 broad.mit.edu GRCh37 3 52430634 52430634 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000420323.2:c.11431G>A p.Val3811Met p.V3811M ENST00000420323 NM_015512.4 3811 Gtg/Atg 0 Missense_Mutation G 44 DNAH1 SNP 3 G A 52405674 52405674 Broad HSPBAP1 79663 broad.mit.edu GRCh37 3 122487638 122487638 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000306103.2:c.342A>T p.Pro114= p.P114= ENST00000306103 NM_024610.5 114 ccA/ccT 0 Silent T 51 HSPBAP1 SNP 3 T A 123970328 123970328 Broad MB21D2 151963 broad.mit.edu GRCh37 3 192516350 192516350 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000392452.2:c.1301C>G p.Thr434Ser p.T434S ENST00000392452 NM_178496.3 434 aCc/aGc 0 Missense_Mutation G 44 C3orf59 SNP 3 G C 193999044 193999044 Broad IL7R 3575 broad.mit.edu GRCh37 5 35861037 35861037 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000303115.3:c.166A>T p.Thr56Ser p.T56S ENST00000303115 NM_002185.3 56 Acc/Tcc 0 Missense_Mutation A 10 IL7R SNP 5 A T 35896794 35896794 Broad ERBB2IP 55914 broad.mit.edu GRCh37 5 65317215 65317215 + splice_donor_variant Splice_Site SNP T T A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000506030.1:c.597+2T>A p.X199_splice ENST00000506030 0 Splice_Site_SNP T 57 ERBB2IP SNP 5 T A 65352971 65352971 Broad PJA2 9867 broad.mit.edu GRCh37 5 108717298 108717298 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000361189.2:c.138A>C p.Lys46Asn p.K46N ENST00000361189 NM_014819.4 46 aaA/aaC 0 Missense_Mutation T 60 PJA2 SNP 5 T G 108745197 108745197 Broad PCDHB5 26167 broad.mit.edu GRCh37 5 140515621 140515621 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000231134.5:c.605G>A p.Arg202Gln p.R202Q ENST00000231134 NM_015669.2 202 cGg/cAg 0 Missense_Mutation G 39 PCDHB5 SNP 5 G A 140495805 140495805 Broad HTR4 3360 broad.mit.edu GRCh37 5 147889226 147889226 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000360693.3:c.869C>G p.Pro290Arg p.P290R ENST00000360693 NM_001040173.2 290 cCt/cGt 0 Missense_Mutation G 35 HTR4 SNP 5 G C 147869419 147869419 Broad PRRC2A 7916 broad.mit.edu GRCh37 6 31603478 31603478 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000376033.2:c.5493C>T p.Arg1831= p.R1831= ENST00000376033 NM_004638.3 1831 cgC/cgT 0 Silent C 26 BAT2 SNP 6 C T 31711457 31711457 Broad UHRF1BP1 54887 broad.mit.edu GRCh37 6 34825549 34825549 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000192788.5:c.1622T>C p.Met541Thr p.M541T ENST00000192788 NM_017754.3 541 aTg/aCg 0 Missense_Mutation T 51 UHRF1BP1 SNP 6 T C 34933527 34933527 Broad ASCC3 10973 broad.mit.edu GRCh37 6 101248260 101248260 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369162.2:c.1043C>T p.Ala348Val p.A348V ENST00000369162 NM_006828.2 348 gCc/gTc 0 Missense_Mutation G 42 ASCC3 SNP 6 G A 101354981 101354981 Broad KIAA1919 91749 broad.mit.edu GRCh37 6 111585078 111585078 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000368847.4:c.242T>A p.Phe81Tyr p.F81Y ENST00000368847 NM_153369.2 81 tTt/tAt 0 Missense_Mutation T 64 KIAA1919 SNP 6 T A 111691771 111691771 Broad FSCN1 6624 broad.mit.edu GRCh37 7 5643564 5643564 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000382361.3:c.1182C>T p.Phe394= p.F394= ENST00000382361 NM_003088.3 394 ttC/ttT 0 Silent C 29 FSCN1 SNP 7 C T 5610090 5610090 Broad DLX6 1750 broad.mit.edu GRCh37 7 96637053 96637053 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000518156.2:c.540G>T p.Gln180His p.Q180H ENST00000518156 180 caG/caT 0 Missense_Mutation G 35 DLX6 SNP 7 G T 96474989 96474989 Broad TRPV5 56302 broad.mit.edu GRCh37 7 142622682 142622682 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265310.1:c.1064G>T p.Arg355Leu p.R355L ENST00000265310 NM_019841.4 355 cGt/cTt 0 Missense_Mutation C 19 TRPV5 SNP 7 C A 142332804 142332804 Broad WDR60 55112 broad.mit.edu GRCh37 7 158672600 158672600 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000407559.3:c.799T>G p.Phe267Val p.F267V ENST00000407559 NM_018051.4 267 Ttt/Gtt 0 Missense_Mutation T 64 WDR60 SNP 7 T G 158365361 158365361 Broad ADAMTSL1 92949 broad.mit.edu GRCh37 9 18776831 18776831 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000380548.4:c.2604G>T p.Lys868Asn p.K868N ENST00000380548 NM_001040272.5 868 aaG/aaT 0 Missense_Mutation G 35 ADAMTSL1 SNP 9 G T 18766831 18766831 Broad COL5A1 1289 broad.mit.edu GRCh37 9 137659191 137659191 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000371817.3:c.2223A>T p.Pro741= p.P741= ENST00000371817 NM_001278074.1 741 ccA/ccT 0 Silent A 7 COL5A1 SNP 9 A T 136799012 136799012 Broad SMS 6611 broad.mit.edu GRCh37 X 21996113 21996113 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000404933.2:c.541A>T p.Ile181Phe p.I181F ENST00000404933 NM_004595.4 181 Atc/Ttc 0 Missense_Mutation A 8 SMS SNP 23 A T 21906034 21906034 Broad POLA1 5422 broad.mit.edu GRCh37 X 24828032 24828032 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000379059.3:c.2964A>G p.Lys988= p.K988= ENST00000379059 NM_016937.3 988 aaA/aaG 0 Silent A 3 POLA1 SNP 23 A G 24737953 24737953 Broad CLCN5 1184 broad.mit.edu GRCh37 X 49856792 49856792 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000376088.3:c.2367G>T p.Leu789Phe p.L789F ENST00000376088 NM_001127899.2 789 ttG/ttT 0 Missense_Mutation G 46 CLCN5 SNP 23 G T 49743532 49743532 Broad FGD1 2245 broad.mit.edu GRCh37 X 54482211 54482211 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000375135.3:c.1849G>A p.Asp617Asn p.D617N ENST00000375135 NM_004463.2 617 Gac/Aac 0 Missense_Mutation C 31 FGD1 SNP 23 C T 54498936 54498936 Broad AMER1 139285 broad.mit.edu GRCh37 X 63410074 63410074 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000330258.3:c.3093C>G p.Gly1031= p.G1031= ENST00000330258 NM_152424.3 1031 ggC/ggG 0 Silent G 42 FAM123B SNP 23 G C 63326799 63326799 Broad ACRC 93953 broad.mit.edu GRCh37 X 70828950 70828950 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000373695.1:c.1594T>A p.Ser532Thr p.S532T ENST00000373695 532 Tcc/Acc 0 Missense_Mutation T 50 ACRC SNP 23 T A 70745675 70745675 Broad PAK3 5063 broad.mit.edu GRCh37 X 110437553 110437553 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000360648.4:c.1125G>T p.Trp375Cys p.W375C ENST00000360648 NM_001128168.1 375 tgG/tgT 0 Missense_Mutation G 43 PAK3 SNP 23 G T 110324209 110324209 Broad IGSF1 3547 broad.mit.edu GRCh37 X 130417181 130417181 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown x x x ENST00000370903.3:c.725A>G p.Glu242Gly p.E242G ENST00000370903 NM_001555.4 242 gAa/gGa 0 Missense_Mutation T 62 IGSF1 SNP 23 T C 130244862 130244862 Broad NBPF10 100132406 broad.mit.edu GRCh37 1 145327546 145327550 + frameshift_variant Frame_Shift_Del DEL TGAAT TGAAT - novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000342960.5:c.4103_4107del p.Leu1368GlnfsTer11 p.L1368Qfs*11 ENST00000342960 NM_001039703.5 1368 cTGAAT/c 0 Frame_Shift_Del TGAAT 55 NBPF10 DEL 1 - TGAAT 144038907 144038903 Broad GPR37L1 9283 broad.mit.edu GRCh37 1 202097212 202097220 + inframe_deletion In_Frame_Del DEL CAGTCACCT CAGTCACCT - novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000367282.5:c.974_982del p.Thr325_Cys328delinsSer p.T325_C328delinsS ENST00000367282 NM_004767.3 325 aCAGTCACCTgc/agc 0 In_Frame_Del CAGTCACCT 17 GPR37L1 DEL 1 - CAGTCACCT 200363843 200363835 Broad PRKCQ 5588 broad.mit.edu GRCh37 10 6525538 6525556 + frameshift_variant Frame_Shift_Del DEL GACTCCCAGGAAATGCCCT GACTCCCAGGAAATGCCCT - novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000263125.5:c.1025_1043del p.Gln342LeufsTer17 p.Q342Lfs*17 ENST00000263125 NM_006257.3 342 cAGGGCATTTCCTGGGAGTCt/ct 0 Frame_Shift_Del GACTCCCAGGAAATGCCCT 33 PRKCQ DEL 10 - GACTCCCAGGAAATGCCCT 6565562 6565544 Broad OR6X1 390260 broad.mit.edu GRCh37 11 123625130 123625130 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000327930.2:c.97del p.Tyr33ThrfsTer3 p.Y33Tfs*3 ENST00000327930 NM_001005188.1 33 Tac/ac 0 Frame_Shift_Del A 15 OR6X1 DEL 11 - - 123130340 123130340 Broad FOXJ2 55810 broad.mit.edu GRCh37 12 8192607 8192614 + frameshift_variant Frame_Shift_Del DEL CAGTGCAC CAGTGCAC - novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000162391.3:c.182_189del p.Val61GlyfsTer35 p.V61Gfs*35 ENST00000162391 NM_018416.2 60 gCAGTGCAC/g 0 Frame_Shift_Del CAGTGCAC 25 FOXJ2 DEL 12 - CAGTGCAC 8083881 8083874 Broad UNC79 57578 broad.mit.edu GRCh37 14 94046550 94046600 + inframe_deletion In_Frame_Del DEL ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC - novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000256339.4:c.1961_2011del p.Ile654_His670del p.I654_H670del ENST00000256339 NM_020818.3 653 gACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCCac/gac 0 In_Frame_Del ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC 10 KIAA1409 DEL 14 - ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC 93116353 93116303 Broad MUC16 94025 broad.mit.edu GRCh37 19 9088834 9088848 + inframe_deletion In_Frame_Del DEL GCAGAGAGAGAAGTG GCAGAGAGAGAAGTG - novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 - GCAGAGAGAGAAGTG GCAGAGAGAGAAGTG GCAGAGAGAGAAGTG Unknown Valid Somatic Phase_I Capture Illumina GAIIx ENST00000397910.4:c.2967_2981del p.Ser991_Thr995del p.S991_T995del ENST00000397910 NM_024690.2 989 gcCACTTCTCTCTCTGCt/gct 0 In_Frame_Del GCAGAGAGAGAAGTG 34 MUC16 DEL 19 - GCAGAGAGAGAAGTG 8949848 8949834 Broad ASNA1 439 broad.mit.edu GRCh37 19 12856512 12856523 + inframe_deletion In_Frame_Del DEL TGGAGCGGGGCC TGGAGCGGGGCC - novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000591090.1:c.551_562del p.Glu184_Leu187del p.E184_L187del ENST00000591090 183 gTGGAGCGGGGCCtg/gtg 0 In_Frame_Del TGGAGCGGGGCC 59 ASNA1 DEL 19 - TGGAGCGGGGCC 12717523 12717512 Broad MYO3B 140469 broad.mit.edu GRCh37 2 171240223 171240252 + inframe_deletion In_Frame_Del DEL TCCAGACTTTATCATGGGGTGAAACGCGCC TCCAGACTTTATCATGGGGTGAAACGCGCC - novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000408978.4:c.1193_1222del p.Arg398_Ser407del p.R398_S407del ENST00000408978 NM_138995.4 397 TCCAGACTTTATCATGGGGTGAAACGCGCC/- 0 In_Frame_Del TCCAGACTTTATCATGGGGTGAAACGCGCC 62 MYO3B DEL 2 - TCCAGACTTTATCATGGGGTGAAACGCGCC 170948498 170948469 Broad DHX30 22907 broad.mit.edu GRCh37 3 47891104 47891123 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL GCCCTGTGTTCCCTAGGGAG GCCCTGTGTTCCCTAGGGAG - novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000445061.1:c.3192-13_3198del p.X1064_splice ENST00000445061 NM_138615.2 0 Splice_Site_Del GCCCTGTGTTCCCTAGGGAG 34 DHX30 DEL 3 - GCCCTGTGTTCCCTAGGGAG 47866127 47866108 Broad SYNGAP1 8831 broad.mit.edu GRCh37 6 33411675 33411683 + inframe_deletion In_Frame_Del DEL GGGGGCAGC GGGGGCAGC - novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000418600.2:c.3357_3365del p.Ser1121_Gly1123del p.S1121_G1123del ENST00000418600 NM_006772.2 1116 GGGGGCAGC/- 0 In_Frame_Del GGGGGCAGC 47 SYNGAP1 DEL 6 - GGGGGCAGC 33519661 33519653 Broad DCAF4L2 138009 broad.mit.edu GRCh37 8 88886199 88886204 + start_retained_variant,5_prime_UTR_variant 5'UTR DEL TTTCGT TTTCGT - novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000319675.3:c.-5_1del *2* ENST00000319675 NM_152418.3 0 Nonsense_Mutation TTTCGT 52 DCAF4L2 DEL 8 - TTTCGT 88955320 88955315 Broad ARMCX2 9823 broad.mit.edu GRCh37 X 100911606 100911628 + frameshift_variant Frame_Shift_Del DEL GGCTGCAGCAGCTGCTGCAGCCC GGCTGCAGCAGCTGCTGCAGCCC - novel Unknown TCGA-13-0913-01 TCGA-13-0913-10 - GGCTGCAGCAGCTGCTGCAGCCC GGCTGCAGCAGCTGCTGCAGCCC GGCTGCAGCAGCTGCTGCAGCCC Unknown Valid Somatic Phase_I Capture Illumina GAIIx ENST00000328766.5:c.947_969del p.Gly316ValfsTer3 p.G316Vfs*3 ENST00000328766 NM_014782.5 316 gGGGCTGCAGCAGCTGCTGCAGCC/g 0 Frame_Shift_Del GGCTGCAGCAGCTGCTGCAGCCC 35 ARMCX2 DEL 23 - GGCTGCAGCAGCTGCTGCAGCCC 100798284 100798262 Broad PEAR1 375033 broad.mit.edu GRCh37 1 156874645 156874645 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000338302.3:c.206+1G>A p.X69_splice ENST00000338302 0 Splice_Site_SNP G 40 PEAR1 SNP 1 G A 155141269 155141269 Broad CHML 1122 broad.mit.edu GRCh37 1 241798262 241798262 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000366553.1:c.807G>T p.Arg269= p.R269= ENST00000366553 NM_001821.3 269 cgG/cgT 0 Silent C 22 CHML SNP 1 C A 239864885 239864885 Broad KIAA1462 57608 broad.mit.edu GRCh37 10 30336644 30336644 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000375377.1:c.98C>T p.Ala33Val p.A33V ENST00000375377 NM_020848.2 33 gCg/gTg 0 Missense_Mutation G 38 KIAA1462 SNP 10 G A 30376650 30376650 Broad CTR9 9646 broad.mit.edu GRCh37 11 10800398 10800398 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000361367.2:c.3268C>T p.Pro1090Ser p.P1090S ENST00000361367 NM_014633.3 1090 Cca/Tca 0 Missense_Mutation C 26 CTR9 SNP 11 C T 10756974 10756974 Broad GRIA4 2893 broad.mit.edu GRCh37 11 105769126 105769126 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000282499.5:c.858G>A p.Glu286= p.E286= ENST00000282499 NM_000829.3 286 gaG/gaA 0 Silent G 36 GRIA4 SNP 11 G A 105274336 105274336 Broad ROBO3 64221 broad.mit.edu GRCh37 11 124746188 124746189 + missense_variant Missense_Mutation DNP GA GA AG novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000397801.1:c.2611_2612delinsAG p.Glu871Arg p.E871R ENST00000397801 NM_022370.3 871 GAg/AGg 0 Missense_Mutation GA 41 ROBO3 DNP 11 GA AG 124251399 124251398 Broad ANPEP 290 broad.mit.edu GRCh37 15 90349532 90349532 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000300060.6:c.283C>T p.Pro95Ser p.P95S ENST00000300060 NM_001150.2 95 Ccc/Tcc 0 Missense_Mutation G 43 ANPEP SNP 15 G A 88150536 88150536 Broad OR3A2 4995 broad.mit.edu GRCh37 17 3181524 3181524 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000408891.2:c.706C>T p.Arg236Ter p.R236* ENST00000408891 NM_002551.3 236 Cga/Tga 0 Nonsense_Mutation G 40 OR3A2 SNP 17 G A 3128274 3128274 Broad MYH4 4622 broad.mit.edu GRCh37 17 10351711 10351711 + splice_donor_variant Splice_Site SNP A A T novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000255381.2:c.4656+2T>A p.X1552_splice ENST00000255381 NM_017533.2 0 Splice_Site_SNP A 14 MYH4 SNP 17 A T 10292436 10292436 Broad KRT12 3859 broad.mit.edu GRCh37 17 39023371 39023371 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000251643.4:c.68C>G p.Ser23Trp p.S23W ENST00000251643 NM_000223.3 23 tCg/tGg 0 Missense_Mutation G 37 KRT12 SNP 17 G C 36276897 36276897 Broad TICAM1 148022 broad.mit.edu GRCh37 19 4817712 4817712 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000248244.5:c.678G>A p.Gly226= p.G226= ENST00000248244 NM_182919.3 226 ggG/ggA 0 Silent C 26 TICAM1 SNP 19 C T 4768712 4768712 Broad CYP4F3 4051 broad.mit.edu GRCh37 19 15756582 15756582 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000221307.8:c.252C>T p.Phe84= p.F84= ENST00000221307 NM_000896.2 84 ttC/ttT 0 Silent C 31 CYP4F3 SNP 19 C T 15617582 15617582 Broad CD207 50489 broad.mit.edu GRCh37 2 71062877 71062877 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000410009.3:c.30G>A p.Ala10= p.A10= ENST00000410009 NM_015717.3 10 gcG/gcA 0 Silent C 27 CD207 SNP 2 C T 70916385 70916385 Broad NRP2 8828 broad.mit.edu GRCh37 2 206592644 206592644 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000360409.3:c.1020G>A p.Thr340= p.T340= ENST00000360409 NM_003872.2 340 acG/acA 0 Silent G 39 NRP2 SNP 2 G A 206300889 206300889 Broad SIGLEC1 6614 broad.mit.edu GRCh37 20 3674892 3674892 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000344754.4:c.3232G>A p.Ala1078Thr p.A1078T ENST00000344754 NM_023068.3 1078 Gcc/Acc 0 Missense_Mutation C 26 SIGLEC1 SNP 20 C T 3622892 3622892 Broad PLCB1 23236 broad.mit.edu GRCh37 20 8769132 8769132 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000338037.6:c.3148C>A p.Gln1050Lys p.Q1050K ENST00000338037 NM_015192.3 1050 Cag/Aag 0 Missense_Mutation C 29 PLCB1 SNP 20 C A 8717132 8717132 Broad STK4 6789 broad.mit.edu GRCh37 20 43703741 43703741 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000372806.3:c.1388G>A p.Arg463Gln p.R463Q ENST00000372806 NM_006282.2 463 cGg/cAg 0 Missense_Mutation G 39 STK4 SNP 20 G A 43137155 43137155 Broad PTPRG 5793 broad.mit.edu GRCh37 3 62189578 62189578 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000474889.1:c.2109C>T p.Arg703= p.R703= ENST00000474889 NM_002841.3 703 cgC/cgT 0 Silent C 27 PTPRG SNP 3 C T 62164618 62164618 Broad CCRN4L 25819 broad.mit.edu GRCh37 4 139964380 139964380 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000280614.2:c.343A>C p.Arg115= p.R115= ENST00000280614 NM_012118.3 115 Agg/Cgg 0 Silent A 7 CCRN4L SNP 4 A C 140183830 140183830 Broad FBXW7 55294 broad.mit.edu GRCh37 4 153244205 153244205 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000281708.4:c.1952T>A p.Leu651Ter p.L651* ENST00000281708 NM_033632.3 651 tTg/tAg 0 Nonsense_Mutation A 5 FBXW7 SNP 4 A T 153463655 153463655 Broad TENM3 55714 broad.mit.edu GRCh37 4 183714082 183714082 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000511685.1:c.6257G>A p.Arg2086His p.R2086H ENST00000511685 2086 cGt/cAt 0 Missense_Mutation G 40 ODZ3 SNP 4 G A 183951076 183951076 Broad ISL1 3670 broad.mit.edu GRCh37 5 50685761 50685761 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000230658.7:c.760A>G p.Lys254Glu p.K254E ENST00000230658 NM_002202.2 254 Aaa/Gaa 0 Missense_Mutation A 5 ISL1 SNP 5 A G 50721518 50721518 Broad PITX1 5307 broad.mit.edu GRCh37 5 134364597 134364597 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000265340.7:c.817G>A p.Val273Ile p.V273I ENST00000265340 NM_002653.4 273 Gtc/Atc 0 Missense_Mutation C 19 PITX1 SNP 5 C T 134392496 134392496 Broad PCDHA9 9752 broad.mit.edu GRCh37 5 140229035 140229035 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000532602.1:c.955C>T p.Pro319Ser p.P319S ENST00000532602 NM_031857.1 319 Cca/Tca 0 Missense_Mutation C 22 PCDHA9 SNP 5 C T 140209219 140209219 Broad GRIA1 2890 broad.mit.edu GRCh37 5 153190617 153190617 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000518783.1:c.2583C>T p.Asn861= p.N861= ENST00000518783 NM_001258021.1 861 aaC/aaT 0 Silent C 19 GRIA1 SNP 5 C T 153170810 153170810 Broad LANCL2 55915 broad.mit.edu GRCh37 7 55467798 55467798 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000254770.2:c.678+1G>A p.X226_splice ENST00000254770 NM_018697.3 0 Splice_Site_SNP G 44 LANCL2 SNP 7 G A 55435292 55435292 Broad BRAF 673 broad.mit.edu GRCh37 7 140453193 140453193 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000288602.6:c.1742A>G p.Asn581Ser p.N581S ENST00000288602 NM_004333.4 581 aAt/aGt 0 Missense_Mutation T 50 BRAF SNP 7 T C 140099662 140099662 Broad SLC24A2 25769 broad.mit.edu GRCh37 9 19516389 19516389 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000341998.2:c.1748C>T p.Pro583Leu p.P583L ENST00000341998 NM_001193288.2 583 cCc/cTc 0 Missense_Mutation G 43 SLC24A2 SNP 9 G A 19506389 19506389 Broad COL15A1 1306 broad.mit.edu GRCh37 9 101763192 101763192 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000375001.3:c.1024G>A p.Gly342Ser p.G342S ENST00000375001 NM_001855.4 342 Ggc/Agc 0 Missense_Mutation G 39 COL15A1 SNP 9 G A 100803013 100803013 Broad EPB41L4B 54566 broad.mit.edu GRCh37 9 111979393 111979393 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000374566.3:c.1442C>T p.Ser481Leu p.S481L ENST00000374566 NM_019114.3 481 tCg/tTg 0 Missense_Mutation G 37 EPB41L4B SNP 9 G A 111019214 111019214 Broad KCND1 3750 broad.mit.edu GRCh37 X 48819928 48819928 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000218176.3:c.1858G>A p.Gly620Ser p.G620S ENST00000218176 NM_004979.4 620 Ggt/Agt 0 Missense_Mutation C 23 KCND1 SNP 23 C T 48704872 48704872 Broad BEX1 55859 broad.mit.edu GRCh37 X 102317854 102317854 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown x x x ENST00000372728.3:c.349C>G p.His117Asp p.H117D ENST00000372728 NM_018476.3 117 Cat/Gat 0 Missense_Mutation G 47 BEX1 SNP 23 G C 102204510 102204510 Broad NBPF14 25832 broad.mit.edu GRCh37 1 148015629 148015633 + frameshift_variant Frame_Shift_Del DEL CATGT CATGT - novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000310701.10:c.1015_1019del p.Asn339ArgfsTer2 p.N339Rfs*2 ENST00000310701 339 aACATG/a 0 Frame_Shift_Del CATGT 21 NBPF14 DEL 1 - CATGT 146482257 146482253 Broad GRIA2 2891 broad.mit.edu GRCh37 4 158257676 158257682 + frameshift_variant Frame_Shift_Del DEL CCTTTAG CCTTTAG - novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 - CCTTTAG CCTTTAG CCTTTAG Unknown Valid Somatic Phase_I Capture Illumina GAIIx ENST00000296526.7:c.1624_1630del p.Leu542MetfsTer16 p.L542Mfs*16 ENST00000296526 NM_000826.3 541 CCTTTAGcc/cc 0 Frame_Shift_Del CCTTTAG 30 GRIA2 DEL 4 - CCTTTAG 158477132 158477126 Broad PRKDC 5591 broad.mit.edu GRCh37 8 48767881 48767881 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-24-1565-01 TCGA-24-1565-10 - T T T Unknown Valid Somatic Phase_I Capture Illumina GAIIx ENST00000314191.2:c.6660del p.Lys2220AsnfsTer18 p.K2220Nfs*18 ENST00000314191 NM_006904.6 2220 aaA/aa 0 Frame_Shift_Del T 60 PRKDC DEL 8 - T 48930434 48930434 Broad NPHP4 261734 broad.mit.edu GRCh37 1 5937176 5937176 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000378156.4:c.2794G>A p.Gly932Ser p.G932S ENST00000378156 NM_015102.3 932 Ggc/Agc 0 Missense_Mutation C 22 NPHP4 SNP 1 C T 5859763 5859763 Broad EPB41 2035 broad.mit.edu GRCh37 1 29391597 29391597 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000343067.4:c.2111G>C p.Trp704Ser p.W704S ENST00000343067 NM_001166005.1 704 tGg/tCg 0 Missense_Mutation G 47 EPB41 SNP 1 G C 29264184 29264184 Broad NKAIN1 79570 broad.mit.edu GRCh37 1 31654706 31654706 + splice_donor_variant Splice_Site SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000373736.2:c.614+1G>C p.X205_splice ENST00000373736 NM_024522.2 0 Splice_Site_SNP C 19 NKAIN1 SNP 1 C G 31427293 31427293 Broad PCSK9 255738 broad.mit.edu GRCh37 1 55512296 55512296 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000302118.5:c.500G>T p.Arg167Leu p.R167L ENST00000302118 NM_174936.3 167 cGg/cTg 0 Missense_Mutation G 39 PCSK9 SNP 1 G T 55284884 55284884 Broad MAGI3 260425 broad.mit.edu GRCh37 1 114191913 114191913 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000307546.9:c.2210G>C p.Gly737Ala p.G737A ENST00000307546 NM_001142782.1 737 gGc/gCc 0 Missense_Mutation G 42 MAGI3 SNP 1 G C 113993436 113993436 Broad CHD1L 9557 broad.mit.edu GRCh37 1 146751843 146751843 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000369258.4:c.1684A>T p.Ser562Cys p.S562C ENST00000369258 NM_001256336.1 562 Agc/Tgc 0 Missense_Mutation A 11 CHD1L SNP 1 A T 145218467 145218467 Broad SV2A 9900 broad.mit.edu GRCh37 1 149881048 149881048 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000369146.3:c.1255C>T p.Arg419Cys p.R419C ENST00000369146 NM_014849.4 419 Cgc/Tgc 0 Missense_Mutation G 38 SV2A SNP 1 G A 148147672 148147672 Broad CGN 57530 broad.mit.edu GRCh37 1 151497171 151497171 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000271636.7:c.1423C>A p.Leu475Ile p.L475I ENST00000271636 NM_020770.2 475 Ctt/Att 0 Missense_Mutation C 20 CGN SNP 1 C A 149763795 149763795 Broad ASH1L 55870 broad.mit.edu GRCh37 1 155448981 155448981 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000392403.3:c.3680T>C p.Phe1227Ser p.F1227S ENST00000392403 NM_018489.2 1227 tTt/tCt 0 Missense_Mutation A 1 ASH1L SNP 1 A G 153715605 153715605 Broad DAP3 7818 broad.mit.edu GRCh37 1 155698874 155698874 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000368336.5:c.645C>T p.Ser215= p.S215= ENST00000368336 NM_004632.3 215 agC/agT 0 Silent C 25 DAP3 SNP 1 C T 153965498 153965498 Broad SLC25A44 9673 broad.mit.edu GRCh37 1 156180069 156180069 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000359511.4:c.792G>C p.Gln264His p.Q264H ENST00000359511 NM_014655.2 264 caG/caC 0 Missense_Mutation G 34 SLC25A44 SNP 1 G C 154446693 154446693 Broad LGR6 59352 broad.mit.edu GRCh37 1 202283969 202283969 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000367278.3:c.1607A>G p.Asp536Gly p.D536G ENST00000367278 NM_001017403.1 536 gAc/gGc 0 Missense_Mutation A 10 LGR6 SNP 1 A G 200550592 200550592 Broad EIF2D 1939 broad.mit.edu GRCh37 1 206772937 206772937 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000271764.2:c.1082C>A p.Ser361Tyr p.S361Y ENST00000271764 NM_006893.2 361 tCc/tAc 0 Missense_Mutation G 41 LGTN SNP 1 G T 204839560 204839560 Broad MARK1 4139 broad.mit.edu GRCh37 1 220808804 220808804 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000366917.4:c.1209C>G p.Ser403= p.S403= ENST00000366917 NM_001286124.1 403 tcC/tcG 0 Silent C 22 MARK1 SNP 1 C G 218875427 218875427 Broad GALNT2 2590 broad.mit.edu GRCh37 1 230338902 230338902 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000366672.4:c.240C>T p.Asp80= p.D80= ENST00000366672 NM_004481.3 80 gaC/gaT 0 Silent C 20 GALNT2 SNP 1 C T 228405525 228405525 Broad SLC35F3 148641 broad.mit.edu GRCh37 1 234452363 234452363 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000366618.3:c.844C>A p.Leu282Ile p.L282I ENST00000366618 NM_173508.2 282 Ctc/Atc 0 Missense_Mutation C 24 SLC35F3 SNP 1 C A 232518986 232518986 Broad GATA3 2625 broad.mit.edu GRCh37 10 8100622 8100622 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000346208.3:c.596C>T p.Ser199Phe p.S199F ENST00000346208 199 tCc/tTc 0 Missense_Mutation C 30 GATA3 SNP 10 C T 8140628 8140628 Broad EPC1 80314 broad.mit.edu GRCh37 10 32560725 32560725 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000263062.8:c.2195A>C p.His732Pro p.H732P ENST00000263062 NM_025209.3 732 cAc/cCc 0 Missense_Mutation T 59 EPC1 SNP 10 T G 32600731 32600731 Broad ARHGAP22 58504 broad.mit.edu GRCh37 10 49654532 49654532 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000417912.2:c.2047G>C p.Glu683Gln p.E683Q ENST00000417912 683 Gag/Cag 0 Missense_Mutation C 30 ARHGAP22 SNP 10 C G 49324538 49324538 Broad ADK 132 broad.mit.edu GRCh37 10 75984351 75984351 + splice_donor_variant Splice_Site SNP T T G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000286621.2:c.194+2T>G p.X65_splice ENST00000286621 NM_006721.3 0 Splice_Site_SNP T 57 ADK SNP 10 T G 75654357 75654357 Broad SORCS3 22986 broad.mit.edu GRCh37 10 106675692 106675692 + splice_donor_variant Splice_Site SNP T T C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369701.3:c.795+2T>C p.X265_splice ENST00000369701 NM_014978.1 0 Splice_Site_SNP T 57 SORCS3 SNP 10 T C 106665682 106665682 Broad NR1H3 10062 broad.mit.edu GRCh37 11 47282969 47282969 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000467728.1:c.677G>A p.Arg226Gln p.R226Q ENST00000467728 226 cGg/cAg 0 Missense_Mutation G 39 NR1H3 SNP 11 G A 47239545 47239545 Broad OOSP2 219990 broad.mit.edu GRCh37 11 59814511 59814511 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000278855.2:c.442T>A p.Leu148Ile p.L148I ENST00000278855 NM_173801.3 148 Tta/Ata 0 Missense_Mutation T 60 PLAC1L SNP 11 T A 59571087 59571087 Broad OR8D1 283159 broad.mit.edu GRCh37 11 124180084 124180084 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000357821.2:c.579C>G p.His193Gln p.H193Q ENST00000357821 NM_001002917.1 193 caC/caG 0 Missense_Mutation G 44 OR8D1 SNP 11 G C 123685294 123685294 Broad PHC1 1911 broad.mit.edu GRCh37 12 9083377 9083377 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000543824.1:c.959C>T p.Thr320Ile p.T320I ENST00000543824 320 aCa/aTa 0 Missense_Mutation C 17 PHC1 SNP 12 C T 8974644 8974644 Broad ABCC9 10060 broad.mit.edu GRCh37 12 22012550 22012550 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000261200.4:c.2475G>A p.Ala825= p.A825= ENST00000261200 NM_020297.2 825 gcG/gcA 0 Silent C 27 ABCC9 SNP 12 C T 21903817 21903817 Broad LRRK2 120892 broad.mit.edu GRCh37 12 40715934 40715934 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000298910.7:c.5268C>A p.Asp1756Glu p.D1756E ENST00000298910 NM_198578.3 1756 gaC/gaA 0 Missense_Mutation C 17 LRRK2 SNP 12 C A 39002201 39002201 Broad HOXC6 3223 broad.mit.edu GRCh37 12 54422532 54422532 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000243108.4:c.227C>A p.Ser76Tyr p.S76Y ENST00000243108 NM_004503.3 76 tCc/tAc 0 Missense_Mutation C 30 HOXC6 SNP 12 C A 52708799 52708799 Broad ESYT1 23344 broad.mit.edu GRCh37 12 56531357 56531357 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000541590.1:c.2043G>A p.Lys681= p.K681= ENST00000541590 681 aaG/aaA 0 Silent G 35 ESYT1 SNP 12 G A 54817624 54817624 Broad NAV3 89795 broad.mit.edu GRCh37 12 78516048 78516048 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000536525.2:c.4078A>T p.Thr1360Ser p.T1360S ENST00000536525 NM_014903.4 1360 Act/Tct 0 Missense_Mutation A 14 NAV3 SNP 12 A T 77040179 77040179 Broad ELK3 2004 broad.mit.edu GRCh37 12 96640846 96640846 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000228741.3:c.336C>T p.Cys112= p.C112= ENST00000228741 NM_005230.2 112 tgC/tgT 0 Silent C 25 ELK3 SNP 12 C T 95164977 95164977 Broad CDK17 5128 broad.mit.edu GRCh37 12 96683034 96683034 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000261211.3:c.1029G>C p.Lys343Asn p.K343N ENST00000261211 NM_002595.4 343 aaG/aaC 0 Missense_Mutation C 32 CDK17 SNP 12 C G 95207165 95207165 Broad SBNO1 55206 broad.mit.edu GRCh37 12 123795646 123795646 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000420886.2:c.3251T>C p.Leu1084Pro p.L1084P ENST00000420886 NM_001167856.1 1084 cTg/cCg 0 Missense_Mutation A 7 SBNO1 SNP 12 A G 122361599 122361599 Broad CENPJ 55835 broad.mit.edu GRCh37 13 25486797 25486797 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000381884.4:c.367A>T p.Asn123Tyr p.N123Y ENST00000381884 NM_018451.4 123 Aat/Tat 0 Missense_Mutation T 64 CENPJ SNP 13 T A 24384797 24384797 Broad PROSER1 80209 broad.mit.edu GRCh37 13 39600450 39600450 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000352251.3:c.444C>G p.Pro148= p.P148= ENST00000352251 NM_025138.4 148 ccC/ccG 0 Silent G 47 C13orf23 SNP 13 G C 38498450 38498450 Broad STK24 8428 broad.mit.edu GRCh37 13 99115945 99115945 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000376547.3:c.965C>G p.Ala322Gly p.A322G ENST00000376547 NM_003576.3 322 gCg/gGg 0 Missense_Mutation G 38 STK24 SNP 13 G C 97913946 97913946 Broad MDGA2 161357 broad.mit.edu GRCh37 14 47342702 47342702 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000426342.1:c.1792C>A p.Pro598Thr p.P598T ENST00000426342 NM_182830.4 598 Cct/Act 0 Missense_Mutation G 43 MDGA2 SNP 14 G T 46412452 46412452 Broad SYNE2 23224 broad.mit.edu GRCh37 14 64542702 64542702 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000358025.3:c.10906G>C p.Glu3636Gln p.E3636Q ENST00000358025 NM_182914.2 3636 Gag/Cag 0 Missense_Mutation G 45 SYNE2 SNP 14 G C 63612455 63612455 Broad CCNDBP1 23582 broad.mit.edu GRCh37 15 43478058 43478058 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000300213.4:c.150G>A p.Glu50= p.E50= ENST00000300213 NM_012142.4 50 gaG/gaA 0 Silent G 33 CCNDBP1 SNP 15 G A 41265350 41265350 Broad FBN1 2200 broad.mit.edu GRCh37 15 48818377 48818377 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000316623.5:c.938G>C p.Cys313Ser p.C313S ENST00000316623 NM_000138.4 313 tGc/tCc 0 Missense_Mutation C 25 FBN1 SNP 15 C G 46605669 46605669 Broad MYO5C 55930 broad.mit.edu GRCh37 15 52517286 52517286 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000261839.7:c.3351A>C p.Glu1117Asp p.E1117D ENST00000261839 NM_018728.3 1117 gaA/gaC 0 Missense_Mutation T 56 MYO5C SNP 15 T G 50304578 50304578 Broad ARIH1 25820 broad.mit.edu GRCh37 15 72847705 72847705 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000379887.4:c.681+1G>A p.X227_splice ENST00000379887 NM_005744.3 0 Splice_Site_SNP G 44 ARIH1 SNP 15 G A 70634759 70634759 Broad CD276 80381 broad.mit.edu GRCh37 15 73995391 73995391 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000318443.5:c.697A>G p.Ser233Gly p.S233G ENST00000318443 NM_001024736.1 233 Agc/Ggc 0 Missense_Mutation A 7 CD276 SNP 15 A G 71782444 71782444 Broad ZNF710 374655 broad.mit.edu GRCh37 15 90617446 90617446 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000268154.4:c.1749G>T p.Lys583Asn p.K583N ENST00000268154 NM_198526.2 583 aaG/aaT 0 Missense_Mutation G 36 ZNF710 SNP 15 G T 88418450 88418450 Broad SRCAP 10847 broad.mit.edu GRCh37 16 30731635 30731635 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000262518.4:c.2970C>G p.Val990= p.V990= ENST00000262518 NM_006662.2 990 gtC/gtG 0 Silent C 29 SRCAP SNP 16 C G 30639136 30639136 Broad NLRC5 84166 broad.mit.edu GRCh37 16 57111686 57111686 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000262510.6:c.4975G>T p.Val1659Phe p.V1659F ENST00000262510 NM_032206.4 1659 Gtt/Ttt 0 Missense_Mutation G 40 NLRC5 SNP 16 G T 55669187 55669187 Broad AARS 16 broad.mit.edu GRCh37 16 70286645 70286645 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000261772.8:c.2886C>G p.Arg962= p.R962= ENST00000261772 NM_001605.2 962 cgC/cgG 0 Silent G 42 AARS SNP 16 G C 68844146 68844146 Broad ZNF232 7775 broad.mit.edu GRCh37 17 5009793 5009793 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000250076.3:c.661G>T p.Glu221Ter p.E221* ENST00000250076 NM_014519.2 221 Gaa/Taa 0 Nonsense_Mutation C 32 ZNF232 SNP 17 C A 4950517 4950517 Broad SCIMP 388325 broad.mit.edu GRCh37 17 5114168 5114168 + synonymous_variant Silent SNP T T G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000574081.1:c.366A>C p.Pro122= p.P122= ENST00000574081 NM_001271842.1 122 ccA/ccC 0 Silent T 63 C17orf87 SNP 17 T G 5054892 5054892 Broad TP53 7157 broad.mit.edu GRCh37 17 7577082 7577082 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 C T C C Unknown Valid Somatic x x 454_PCR_WGA x ENST00000269305.4:c.856G>A p.Glu286Lys p.E286K ENST00000269305 NM_001126112.2 286 Gaa/Aaa 0 Missense_Mutation C 30 TP53 SNP 17 C T 7517807 7517807 Broad FAM222B 55731 broad.mit.edu GRCh37 17 27085623 27085623 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000341217.5:c.1354C>G p.Pro452Ala p.P452A ENST00000341217 NM_001288633.1 452 Ccc/Gcc 0 Missense_Mutation G 44 C17orf63 SNP 17 G C 24109750 24109750 Broad EVI2B 2124 broad.mit.edu GRCh37 17 29632179 29632179 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000330927.4:c.449C>T p.Ser150Leu p.S150L ENST00000330927 NM_006495.3 150 tCa/tTa 0 Missense_Mutation G 45 EVI2B SNP 17 G A 26656305 26656305 Broad KRT28 162605 broad.mit.edu GRCh37 17 38950147 38950147 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000306658.7:c.1130T>C p.Leu377Pro p.L377P ENST00000306658 NM_181535.3 377 cTc/cCc 0 Missense_Mutation A 11 KRT28 SNP 17 A G 36203673 36203673 Broad DNAJC7 7266 broad.mit.edu GRCh37 17 40141523 40141523 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000457167.4:c.652C>G p.Leu218Val p.L218V ENST00000457167 NM_003315.3 218 Ctt/Gtt 0 Missense_Mutation G 33 DNAJC7 SNP 17 G C 37395049 37395049 Broad CNTNAP1 8506 broad.mit.edu GRCh37 17 40840945 40840945 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000264638.4:c.1508T>C p.Phe503Ser p.F503S ENST00000264638 NM_003632.2 503 tTc/tCc 0 Missense_Mutation T 62 CNTNAP1 SNP 17 T C 38094471 38094471 Broad ABCA5 23461 broad.mit.edu GRCh37 17 67266804 67266804 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000392676.3:c.2980C>A p.His994Asn p.H994N ENST00000392676 994 Cat/Aat 0 Missense_Mutation G 45 ABCA5 SNP 17 G T 64778399 64778399 Broad TRIM47 91107 broad.mit.edu GRCh37 17 73872052 73872052 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000254816.2:c.1131C>T p.Cys377= p.C377= ENST00000254816 NM_033452.2 377 tgC/tgT 0 Silent G 38 TRIM47 SNP 17 G A 71383647 71383647 Broad HGS 9146 broad.mit.edu GRCh37 17 79662057 79662057 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000329138.4:c.1079A>T p.Gln360Leu p.Q360L ENST00000329138 NM_004712.4 360 cAg/cTg 0 Missense_Mutation A 7 HGS SNP 17 A T 77272462 77272462 Broad MYOM1 8736 broad.mit.edu GRCh37 18 3126832 3126832 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000356443.4:c.2858G>A p.Gly953Glu p.G953E ENST00000356443 NM_019856.1 953 gGa/gAa 0 Missense_Mutation C 30 MYOM1 SNP 18 C T 3116832 3116832 Broad ST8SIA5 29906 broad.mit.edu GRCh37 18 44268806 44268806 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000315087.7:c.388C>A p.Leu130Ile p.L130I ENST00000315087 NM_013305.4 130 Ctc/Atc 0 Missense_Mutation G 34 ST8SIA5 SNP 18 G T 42522804 42522804 Broad MALT1 10892 broad.mit.edu GRCh37 18 56390338 56390338 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000348428.3:c.1077C>T p.Leu359= p.L359= ENST00000348428 NM_006785.3 359 ctC/ctT 0 Silent C 29 MALT1 SNP 18 C T 54541318 54541318 Broad GALR1 2587 broad.mit.edu GRCh37 18 74980674 74980674 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000299727.3:c.866A>G p.His289Arg p.H289R ENST00000299727 NM_001480.3 289 cAc/cGc 0 Missense_Mutation A 6 GALR1 SNP 18 A G 73109662 73109662 Broad ADNP2 22850 broad.mit.edu GRCh37 18 77896601 77896601 + missense_variant Missense_Mutation SNP T T C rs11553022 byHapMap TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000262198.4:c.3305T>C p.Ile1102Thr p.I1102T ENST00000262198 NM_014913.3 1102 aTa/aCa 0 Missense_Mutation T 49 ADNP2 SNP 18 T C 75997592 75997592 Broad S1PR5 53637 broad.mit.edu GRCh37 19 10624568 10624568 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000439028.3:c.1120G>A p.Asp374Asn p.D374N ENST00000439028 NM_001166215.1 374 Gac/Aac 0 Missense_Mutation C 30 S1PR5 SNP 19 C T 10485568 10485568 Broad TSPAN16 26526 broad.mit.edu GRCh37 19 11408889 11408889 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000316737.1:c.141C>T p.Leu47= p.L47= ENST00000316737 NM_012466.2 47 ctC/ctT 0 Silent C 31 TSPAN16 SNP 19 C T 11269889 11269889 Broad BEST2 54831 broad.mit.edu GRCh37 19 12866268 12866268 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000549706.1:c.712C>T p.Gln238Ter p.Q238* ENST00000549706 238 Cag/Tag 0 Nonsense_Mutation C 25 BEST2 SNP 19 C T 12727268 12727268 Broad ZNF14 7561 broad.mit.edu GRCh37 19 19824901 19824901 + splice_region_variant,synonymous_variant Splice_Region SNP T T G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 T G T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000344099.3:c.190A>C p.Arg64= p.R64= ENST00000344099 NM_021030.2 64 Aga/Cga 0 Silent T 56 ZNF14 SNP 19 T G 19685901 19685901 Broad PRKD2 25865 broad.mit.edu GRCh37 19 47184991 47184991 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000433867.1:c.1986G>C p.Leu662Phe p.L662F ENST00000433867 NM_001079881.1 662 ttG/ttC 0 Missense_Mutation C 29 PRKD2 SNP 19 C G 51876831 51876831 Broad DHX34 9704 broad.mit.edu GRCh37 19 47856734 47856734 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000328771.4:c.447T>G p.Phe149Leu p.F149L ENST00000328771 NM_014681.5 149 ttT/ttG 0 Missense_Mutation T 63 DHX34 SNP 19 T G 52548574 52548574 Broad PTPRH 5794 broad.mit.edu GRCh37 19 55716926 55716926 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000376350.3:c.387T>C p.Ala129= p.A129= ENST00000376350 NM_002842.3 129 gcT/gcC 0 Silent A 11 PTPRH SNP 19 A G 60408738 60408738 Broad TPO 7173 broad.mit.edu GRCh37 2 1418211 1418211 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000345913.4:c.31C>G p.Leu11Val p.L11V ENST00000345913 NM_000547.5 11 Ctg/Gtg 0 Missense_Mutation C 28 TPO SNP 2 C G 1397218 1397218 Broad EMILIN1 11117 broad.mit.edu GRCh37 2 27306723 27306723 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000380320.4:c.2284C>A p.Leu762Ile p.L762I ENST00000380320 NM_007046.3 762 Ctc/Atc 0 Missense_Mutation C 28 EMILIN1 SNP 2 C A 27160227 27160227 Broad SLC5A7 60482 broad.mit.edu GRCh37 2 108626706 108626706 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000264047.2:c.1132G>A p.Val378Ile p.V378I ENST00000264047 NM_021815.2 378 Gtt/Att 0 Missense_Mutation G 40 SLC5A7 SNP 2 G A 107993138 107993138 Broad MAP3K19 80122 broad.mit.edu GRCh37 2 135738768 135738768 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000375845.3:c.3543T>A p.Cys1181Ter p.C1181* ENST00000375845 NM_025052.3 1181 tgT/tgA 0 Nonsense_Mutation A 6 YSK4 SNP 2 A T 135455238 135455238 Broad NEB 4703 broad.mit.edu GRCh37 2 152499124 152499124 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000397345.3:c.8337C>A p.Ile2779= p.I2779= ENST00000397345 NM_001164508.1 2779 atC/atA 0 Silent G 45 NEB SNP 2 G T 152207370 152207370 Broad TTN 7273 broad.mit.edu GRCh37 2 179429242 179429242 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000589042.1:c.81617T>C p.Ile27206Thr p.I27206T ENST00000589042 NM_001267550.1 27206 aTt/aCt 0 Missense_Mutation A 4 TTN SNP 2 A G 179137488 179137488 Broad NCKAP1 10787 broad.mit.edu GRCh37 2 183790515 183790515 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000360982.2:c.3320A>G p.Asp1107Gly p.D1107G ENST00000360982 NM_013436.4 1107 gAt/gGt 0 Missense_Mutation T 50 NCKAP1 SNP 2 T C 183498760 183498760 Broad HECW2 57520 broad.mit.edu GRCh37 2 197184519 197184519 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000260983.3:c.1095G>C p.Gln365His p.Q365H ENST00000260983 NM_020760.1 365 caG/caC 0 Missense_Mutation C 24 HECW2 SNP 2 C G 196892764 196892764 Broad ASIC4 55515 broad.mit.edu GRCh37 2 220402768 220402768 + stop_lost Nonstop_Mutation SNP G G T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000347842.3:c.1944G>T p.Ter648TyrextTer108 p.*648Yext*108 ENST00000347842 NM_182847.2 648 taG/taT 0 Nonstop_Mutation G 35 ACCN4 SNP 2 G T 220111012 220111012 Broad CAPN10 11132 broad.mit.edu GRCh37 2 241528815 241528815 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000391984.2:c.197A>C p.Lys66Thr p.K66T ENST00000391984 NM_023083.3 66 aAg/aCg 0 Missense_Mutation A 3 CAPN10 SNP 2 A C 241177488 241177488 Broad FARP2 9855 broad.mit.edu GRCh37 2 242402804 242402804 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000264042.3:c.1732C>T p.Leu578= p.L578= ENST00000264042 NM_014808.2 578 Ctg/Ttg 0 Silent C 28 FARP2 SNP 2 C T 242051477 242051477 Broad PLCB4 5332 broad.mit.edu GRCh37 20 9440287 9440287 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000378501.2:c.3042A>G p.Lys1014= p.K1014= ENST00000378501 NM_000933.3 1014 aaA/aaG 0 Silent A 3 PLCB4 SNP 20 A G 9388287 9388287 Broad SPAG4 6676 broad.mit.edu GRCh37 20 34205139 34205139 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000374273.3:c.386C>G p.Pro129Arg p.P129R ENST00000374273 NM_003116.1 129 cCg/cGg 0 Missense_Mutation C 23 SPAG4 SNP 20 C G 33668553 33668553 Broad KIAA1755 85449 broad.mit.edu GRCh37 20 36870196 36870196 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000279024.4:c.337G>A p.Glu113Lys p.E113K ENST00000279024 NM_001029864.1 113 Gag/Aag 0 Missense_Mutation C 30 KIAA1755 SNP 20 C T 36303610 36303610 Broad GNAS 2778 broad.mit.edu GRCh37 20 57484839 57484839 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000371085.3:c.819C>G p.Phe273Leu p.F273L ENST00000371085 NM_000516.4 273 ttC/ttG 0 Missense_Mutation C 29 GNAS SNP 20 C G 56918234 56918234 Broad PIWIL3 440822 broad.mit.edu GRCh37 22 25115513 25115513 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000332271.5:c.2575C>G p.Leu859Val p.L859V ENST00000332271 NM_001255975.1 859 Ctg/Gtg 0 Missense_Mutation G 34 PIWIL3 SNP 22 G C 23445513 23445513 Broad LIMK2 3985 broad.mit.edu GRCh37 22 31662052 31662052 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000340552.4:c.912C>G p.Ile304Met p.I304M ENST00000340552 NM_001031801.1 304 atC/atG 0 Missense_Mutation C 32 LIMK2 SNP 22 C G 29992052 29992052 Broad MKL1 57591 broad.mit.edu GRCh37 22 40827433 40827433 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000355630.3:c.115C>G p.Leu39Val p.L39V ENST00000355630 NM_020831.3 39 Ctg/Gtg 0 Missense_Mutation G 34 MKL1 SNP 22 G C 39157379 39157379 Broad LSMEM2 132228 broad.mit.edu GRCh37 3 50324588 50324588 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000316436.3:c.450C>G p.Ser150Arg p.S150R ENST00000316436 NM_153215.1 150 agC/agG 0 Missense_Mutation C 26 C3orf45 SNP 3 C G 50299592 50299592 Broad PTPRG 5793 broad.mit.edu GRCh37 3 62189178 62189178 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000474889.1:c.1709C>T p.Pro570Leu p.P570L ENST00000474889 NM_002841.3 570 cCa/cTa 0 Missense_Mutation C 21 PTPRG SNP 3 C T 62164218 62164218 Broad EOGT 285203 broad.mit.edu GRCh37 3 69057654 69057654 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000295571.5:c.236G>A p.Cys79Tyr p.C79Y ENST00000295571 NM_173654.2 79 tGc/tAc 0 Missense_Mutation C 25 C3orf64 SNP 3 C T 69140344 69140344 Broad GPR27 2850 broad.mit.edu GRCh37 3 71804076 71804076 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000304411.2:c.876C>T p.Leu292= p.L292= ENST00000304411 NM_018971.1 292 ctC/ctT 0 Silent C 32 GPR27 SNP 3 C T 71886766 71886766 Broad CLDND1 56650 broad.mit.edu GRCh37 3 98235671 98235671 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000437922.1:c.663C>G p.Leu221= p.L221= ENST00000437922 NM_001040182.1 221 ctC/ctG 0 Silent G 41 CLDND1 SNP 3 G C 99718361 99718361 Broad FAM194A 131831 broad.mit.edu GRCh37 3 150377801 150377801 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000295910.6:c.1870A>T p.Lys624Ter p.K624* ENST00000295910 NM_152394.3 624 Aaa/Taa 0 Nonsense_Mutation T 64 FAM194A SNP 3 T A 151860491 151860491 Broad SPATA16 83893 broad.mit.edu GRCh37 3 172766803 172766803 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000351008.3:c.694A>G p.Thr232Ala p.T232A ENST00000351008 NM_031955.5 232 Aca/Gca 0 Missense_Mutation T 58 SPATA16 SNP 3 T C 174249497 174249497 Broad KNG1 3827 broad.mit.edu GRCh37 3 186459434 186459434 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265023.4:c.1249C>T p.Arg417Trp p.R417W ENST00000265023 NM_001102416.2 417 Cgg/Tgg 0 Missense_Mutation C 27 KNG1 SNP 3 C T 187942128 187942128 Broad DLG1 1739 broad.mit.edu GRCh37 3 196842949 196842949 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000346964.2:c.1391C>G p.Pro464Arg p.P464R ENST00000346964 NM_004087.2 464 cCt/cGt 0 Missense_Mutation G 35 DLG1 SNP 3 G C 198327346 198327346 Broad CD38 952 broad.mit.edu GRCh37 4 15818256 15818256 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000226279.3:c.356G>C p.Cys119Ser p.C119S ENST00000226279 NM_001775.2 119 tGc/tCc 0 Missense_Mutation G 46 CD38 SNP 4 G C 15427354 15427354 Broad DCUN1D4 23142 broad.mit.edu GRCh37 4 52740446 52740446 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000334635.5:c.146G>C p.Arg49Pro p.R49P ENST00000334635 NM_001040402.1 49 cGg/cCg 0 Missense_Mutation G 39 DCUN1D4 SNP 4 G C 52435203 52435203 Broad CEP72 55722 broad.mit.edu GRCh37 5 639308 639308 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000264935.5:c.1311C>A p.Cys437Ter p.C437* ENST00000264935 NM_018140.3 437 tgC/tgA 0 Nonsense_Mutation C 25 CEP72 SNP 5 C A 692308 692308 Broad DDX4 54514 broad.mit.edu GRCh37 5 55034823 55034823 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000505374.1:c.32A>C p.Asn11Thr p.N11T ENST00000505374 NM_024415.2 11 aAc/aCc 0 Missense_Mutation A 2 DDX4 SNP 5 A C 55070580 55070580 Broad FNIP1 96459 broad.mit.edu GRCh37 5 131132577 131132577 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000510461.1:c.38G>A p.Arg13Lys p.R13K ENST00000510461 NM_133372.2 13 aGg/aAg 0 Missense_Mutation C 24 FNIP1 SNP 5 C T 131160476 131160476 Broad PCDHA9 9752 broad.mit.edu GRCh37 5 140228493 140228493 + missense_variant Missense_Mutation SNP A A G rs364101 byCluster;byFrequency;bySubmitter;byHapMap TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000532602.1:c.413A>G p.Lys138Arg p.K138R ENST00000532602 NM_031857.1 138 aAg/aGg 0 Missense_Mutation A 3 PCDHA9 SNP 5 A G 140208677 140208677 Broad KCNMB1 3779 broad.mit.edu GRCh37 5 169812362 169812362 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000274629.4:c.90C>G p.Thr30= p.T30= ENST00000274629 NM_004137.3 30 acC/acG 0 Silent G 35 KCNMB1 SNP 5 G C 169744940 169744940 Broad JARID2 3720 broad.mit.edu GRCh37 6 15512443 15512443 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000341776.2:c.2957C>A p.Ser986Tyr p.S986Y ENST00000341776 NM_004973.3 986 tCc/tAc 0 Missense_Mutation C 30 JARID2 SNP 6 C A 15620422 15620422 Broad HIST1H1A 3024 broad.mit.edu GRCh37 6 26017456 26017456 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000244573.3:c.505C>G p.Pro169Ala p.P169A ENST00000244573 NM_005325.3 169 Cca/Gca 0 Missense_Mutation G 41 HIST1H1A SNP 6 G C 26125435 26125435 Broad HIST1H1E 3008 broad.mit.edu GRCh37 6 26157269 26157269 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000304218.3:c.651G>A p.Lys217= p.K217= ENST00000304218 NM_005321.2 217 aaG/aaA 0 Silent G 33 HIST1H1E SNP 6 G A 26265248 26265248 Broad UHRF1BP1 54887 broad.mit.edu GRCh37 6 34826116 34826116 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000192788.5:c.1983G>C p.Leu661= p.L661= ENST00000192788 NM_017754.3 661 ctG/ctC 0 Silent G 46 UHRF1BP1 SNP 6 G C 34934094 34934094 Broad PTCRA 171558 broad.mit.edu GRCh37 6 42890861 42890861 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000304672.1:c.155T>A p.Val52Asp p.V52D ENST00000304672 NM_001243168.1 52 gTt/gAt 0 Missense_Mutation T 60 PTCRA SNP 6 T A 42998839 42998839 Broad CAPN11 11131 broad.mit.edu GRCh37 6 44145089 44145089 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000398776.1:c.1348C>T p.Gln450Ter p.Q450* ENST00000398776 NM_007058.3 450 Cag/Tag 0 Nonsense_Mutation C 25 CAPN11 SNP 6 C T 44253067 44253067 Broad TTK 7272 broad.mit.edu GRCh37 6 80745120 80745120 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369798.2:c.1910C>G p.Thr637Arg p.T637R ENST00000369798 NM_003318.4 637 aCa/aGa 0 Missense_Mutation C 17 TTK SNP 6 C G 80801839 80801839 Broad DOPEY1 23033 broad.mit.edu GRCh37 6 83847764 83847764 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000349129.2:c.4003T>C p.Tyr1335His p.Y1335H ENST00000349129 NM_015018.3 1335 Tat/Cat 0 Missense_Mutation T 57 DOPEY1 SNP 6 T C 83904483 83904483 Broad FRK 2444 broad.mit.edu GRCh37 6 116325071 116325071 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000606080.1:c.435T>A p.Ser145Arg p.S145R ENST00000606080 NM_002031.2 145 agT/agA 0 Missense_Mutation A 6 FRK SNP 6 A T 116431764 116431764 Broad THEMIS 387357 broad.mit.edu GRCh37 6 128150780 128150780 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000543064.1:c.550C>G p.Leu184Val p.L184V ENST00000543064 NM_001164685.1 184 Cta/Gta 0 Missense_Mutation G 33 THEMIS SNP 6 G C 128192473 128192473 Broad ARG1 383 broad.mit.edu GRCh37 6 131897815 131897815 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000356962.2:c.70G>T p.Val24Leu p.V24L ENST00000356962 NM_001244438.1 24 Gtg/Ttg 0 Missense_Mutation G 44 ARG1 SNP 6 G T 131939508 131939508 Broad TAAR6 319100 broad.mit.edu GRCh37 6 132891644 132891644 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000275198.1:c.184C>A p.Gln62Lys p.Q62K ENST00000275198 NM_175067.1 62 Cag/Aag 0 Missense_Mutation C 25 TAAR6 SNP 6 C A 132933337 132933337 Broad FNDC1 84624 broad.mit.edu GRCh37 6 159654033 159654033 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000297267.9:c.2489G>T p.Arg830Met p.R830M ENST00000297267 NM_032532.2 830 aGg/aTg 0 Missense_Mutation G 35 FNDC1 SNP 6 G T 159574023 159574023 Broad TNRC18 84629 broad.mit.edu GRCh37 7 5410134 5410134 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000430969.1:c.4091G>C p.Gly1364Ala p.G1364A ENST00000430969 NM_001080495.2 1364 gGa/gCa 0 Missense_Mutation C 30 TNRC18B SNP 7 C G 5376660 5376660 Broad PTCD1 26024 broad.mit.edu GRCh37 7 99021578 99021578 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000413834.1:c.1887G>A p.Lys629= p.K629= ENST00000413834 629 aaG/aaA 0 Silent C 20 PTCD1 SNP 7 C T 98859514 98859514 Broad ZKSCAN5 23660 broad.mit.edu GRCh37 7 99123674 99123674 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000394170.2:c.1011G>C p.Lys337Asn p.K337N ENST00000394170 NM_014569.3 337 aaG/aaC 0 Missense_Mutation G 34 ZKSCAN5 SNP 7 G C 98961610 98961610 Broad MUC17 140453 broad.mit.edu GRCh37 7 100681243 100681243 + synonymous_variant Silent SNP A A T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000306151.4:c.6546A>T p.Ser2182= p.S2182= ENST00000306151 NM_001040105.1 2182 tcA/tcT 0 Silent A 5 MUC17 SNP 7 A T 100467963 100467963 Broad SRPK2 6733 broad.mit.edu GRCh37 7 104807867 104807867 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000393651.3:c.471C>T p.Val157= p.V157= ENST00000393651 NM_182692.2 157 gtC/gtT 0 Silent G 41 SRPK2 SNP 7 G A 104595103 104595103 Broad ZNF746 155061 broad.mit.edu GRCh37 7 149172373 149172373 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000458143.2:c.1040G>C p.Arg347Pro p.R347P ENST00000458143 NM_001163474.1 347 cGa/cCa 0 Missense_Mutation C 31 ZNF746 SNP 7 C G 148803306 148803306 Broad SSPO 23145 broad.mit.edu GRCh37 7 149475103 149475103 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000378016.2:n.804G>A *268* ENST00000378016 0 Silent G 47 SSPO SNP 7 G A 149106036 149106036 Broad VCPIP1 80124 broad.mit.edu GRCh37 8 67577756 67577756 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000310421.4:c.1438G>C p.Val480Leu p.V480L ENST00000310421 NM_025054.4 480 Gtt/Ctt 0 Missense_Mutation C 17 VCPIP1 SNP 8 C G 67740310 67740310 Broad ARFGEF1 10565 broad.mit.edu GRCh37 8 68139375 68139375 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000262215.3:c.3913G>A p.Val1305Ile p.V1305I ENST00000262215 NM_006421.4 1305 Gtc/Atc 0 Missense_Mutation C 17 ARFGEF1 SNP 8 C T 68301929 68301929 Broad ZC2HC1A 51101 broad.mit.edu GRCh37 8 79610699 79610699 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000263849.4:c.655C>T p.Leu219Phe p.L219F ENST00000263849 NM_016010.2 219 Ctt/Ttt 0 Missense_Mutation C 20 FAM164A SNP 8 C T 79773254 79773254 Broad PKHD1L1 93035 broad.mit.edu GRCh37 8 110534995 110534995 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000378402.5:c.12206G>C p.Arg4069Thr p.R4069T ENST00000378402 NM_177531.4 4069 aGg/aCg 0 Missense_Mutation G 35 PKHD1L1 SNP 8 G C 110604171 110604171 Broad FAM84B 157638 broad.mit.edu GRCh37 8 127568749 127568749 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000304916.3:c.886C>A p.Pro296Thr p.P296T ENST00000304916 NM_174911.4 296 Cct/Act 0 Missense_Mutation G 43 FAM84B SNP 8 G T 127637931 127637931 Broad SCRIB 23513 broad.mit.edu GRCh37 8 144895887 144895887 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000356994.2:c.366T>G p.Asp122Glu p.D122E ENST00000356994 NM_182706.4 122 gaT/gaG 0 Missense_Mutation A 8 SCRIB SNP 8 A C 144967875 144967875 Broad PARP10 84875 broad.mit.edu GRCh37 8 145058881 145058881 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000313028.7:c.1289T>G p.Val430Gly p.V430G ENST00000313028 NM_032789.3 430 gTg/gGg 0 Missense_Mutation A 6 PARP10 SNP 8 A C 145130869 145130869 Broad TONSL 4796 broad.mit.edu GRCh37 8 145661270 145661270 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000409379.3:c.2546G>A p.Arg849His p.R849H ENST00000409379 NM_013432.4 849 cGc/cAc 0 Missense_Mutation C 27 NFKBIL2 SNP 8 C T 145632078 145632078 Broad RMI1 80010 broad.mit.edu GRCh37 9 86617023 86617024 + stop_gained Nonsense_Mutation DNP TG TG AT novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000325875.3:c.1122_1123delinsAT p.Ser374_Glu375delinsArgTer p.S374_E375delinsR* ENST00000325875 NM_024945.2 374 agTGaa/agATaa 0 Nonsense_Mutation TG 59 RMI1 DNP 9 TG AT 85806844 85806843 Broad CENPP 401541 broad.mit.edu GRCh37 9 95094528 95094528 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000375587.3:c.184C>A p.His62Asn p.H62N ENST00000375587 NM_001012267.1 62 Cat/Aat 0 Missense_Mutation C 17 CENPP SNP 9 C A 94134349 94134349 Broad PTCH1 5727 broad.mit.edu GRCh37 9 98218563 98218563 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000331920.6:c.3301G>T p.Ala1101Ser p.A1101S ENST00000331920 NM_000264.3 1101 Gct/Tct 0 Missense_Mutation C 25 PTCH1 SNP 9 C A 97258384 97258384 Broad GALNT12 79695 broad.mit.edu GRCh37 9 101585623 101585623 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000375011.3:c.457C>G p.Leu153Val p.L153V ENST00000375011 NM_024642.4 153 Ctt/Gtt 0 Missense_Mutation C 24 GALNT12 SNP 9 C G 100625444 100625444 Broad INVS 27130 broad.mit.edu GRCh37 9 103035345 103035346 + missense_variant Missense_Mutation DNP GA GA TT novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000262457.2:c.1771_1772delinsTT p.Asp591Phe p.D591F ENST00000262457 NM_014425.3 591 GAt/TTt 0 Missense_Mutation GA 33 INVS DNP 9 GA TT 102075167 102075166 Broad CTNNAL1 8727 broad.mit.edu GRCh37 9 111739271 111739271 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 T G T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000325551.4:c.1159A>C p.Ser387Arg p.S387R ENST00000325551 NM_003798.2 387 Agt/Cgt 0 Missense_Mutation T 55 CTNNAL1 SNP 9 T G 110779092 110779092 Broad OR1K1 392392 broad.mit.edu GRCh37 9 125562795 125562795 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000277309.2:c.394C>T p.Pro132Ser p.P132S ENST00000277309 NM_080859.1 132 Ccc/Tcc 0 Missense_Mutation C 22 OR1K1 SNP 9 C T 124602616 124602616 Broad LINC02913 broad.mit.edu GRCh37 9 132084602 132084602 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000316786.1:n.563C>T *188* ENST00000316786 0 Silent C 29 C9orf106 SNP 9 C T 131124423 131124423 Broad PRDM12 59335 broad.mit.edu GRCh37 9 133542151 133542151 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000253008.2:c.380T>G p.Val127Gly p.V127G ENST00000253008 NM_021619.2 127 gTg/gGg 0 Missense_Mutation T 59 PRDM12 SNP 9 T G 132531972 132531972 Broad CAMSAP1 157922 broad.mit.edu GRCh37 9 138703182 138703182 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000389532.4:c.4782G>T p.Val1594= p.V1594= ENST00000389532 NM_015447.3 1594 gtG/gtT 0 Silent C 25 CAMSAP1 SNP 9 C A 137843003 137843003 Broad WWC3 55841 broad.mit.edu GRCh37 X 10085308 10085308 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000380861.4:c.1209C>G p.Pro403= p.P403= ENST00000380861 NM_015691.3 403 ccC/ccG 0 Silent C 23 WWC3 SNP 23 C G 10045308 10045308 Broad HDX 139324 broad.mit.edu GRCh37 X 83724007 83724007 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000297977.5:c.724A>G p.Asn242Asp p.N242D ENST00000297977 NM_001177479.1 242 Aac/Gac 0 Missense_Mutation T 61 HDX SNP 23 T C 83610663 83610663 Broad SLITRK2 84631 broad.mit.edu GRCh37 X 144905479 144905479 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1326-01 TCGA-25-1326-10 Unknown Unknown Unknown x x x ENST00000370490.1:c.1536A>C p.Lys512Asn p.K512N ENST00000370490 512 aaA/aaC 0 Missense_Mutation A 3 SLITRK2 SNP 23 A C 144713171 144713171 Broad ZC3H12A 80149 broad.mit.edu GRCh37 1 37945952 37945952 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000373087.6:c.505G>A p.Glu169Lys p.E169K ENST00000373087 NM_025079.2 169 Gag/Aag 0 Missense_Mutation G 41 ZC3H12A SNP 1 G A 37718539 37718539 Broad SNX7 51375 broad.mit.edu GRCh37 1 99156719 99156719 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000306121.3:c.452C>G p.Ala151Gly p.A151G ENST00000306121 NM_015976.4 151 gCa/gGa 0 Missense_Mutation C 25 SNX7 SNP 1 C G 98929307 98929307 Broad CELSR2 1952 broad.mit.edu GRCh37 1 109793755 109793755 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000271332.3:c.1054C>T p.Arg352Cys p.R352C ENST00000271332 NM_001408.2 352 Cgt/Tgt 0 Missense_Mutation C 23 CELSR2 SNP 1 C T 109595278 109595278 Broad CD1D 912 broad.mit.edu GRCh37 1 158152681 158152681 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000368171.3:c.621C>T p.Ala207= p.A207= ENST00000368171 NM_001766.3 207 gcC/gcT 0 Silent C 24 CD1D SNP 1 C T 156419305 156419305 Broad CACNA1E 777 broad.mit.edu GRCh37 1 181726188 181726188 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000367573.2:c.4255G>C p.Val1419Leu p.V1419L ENST00000367573 NM_001205293.1 1419 Gtg/Ctg 0 Missense_Mutation G 48 CACNA1E SNP 1 G C 179992811 179992811 Broad PFKFB3 5209 broad.mit.edu GRCh37 10 6261552 6261552 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000379775.4:c.519G>A p.Pro173= p.P173= ENST00000379775 NM_004566.3 173 ccG/ccA 0 Silent G 39 PFKFB3 SNP 10 G A 6301558 6301558 Broad ATAD1 84896 broad.mit.edu GRCh37 10 89514454 89514454 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000308448.7:c.1076G>T p.Cys359Phe p.C359F ENST00000308448 NM_032810.2 359 tGt/tTt 0 Missense_Mutation C 17 ATAD1 SNP 10 C A 89504434 89504434 Broad TRAF6 7189 broad.mit.edu GRCh37 11 36511561 36511561 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000526995.1:c.1396C>T p.Arg466Trp p.R466W ENST00000526995 NM_004620.3 466 Cgg/Tgg 0 Missense_Mutation G 40 TRAF6 SNP 11 G A 36468137 36468137 Broad CNTN5 53942 broad.mit.edu GRCh37 11 99715587 99715587 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000524871.1:c.281G>A p.Ser94Asn p.S94N ENST00000524871 NM_014361.3 94 aGt/aAt 0 Missense_Mutation G 36 CNTN5 SNP 11 G A 99220797 99220797 Broad C11orf87 399947 broad.mit.edu GRCh37 11 109294829 109294829 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000327419.6:c.470C>G p.Pro157Arg p.P157R ENST00000327419 NM_207645.3 157 cCg/cGg 0 Missense_Mutation C 23 C11orf87 SNP 11 C G 108800039 108800039 Broad STYK1 55359 broad.mit.edu GRCh37 12 10775266 10775266 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000075503.3:c.938G>T p.Gly313Val p.G313V ENST00000075503 NM_018423.2 313 gGg/gTg 0 Missense_Mutation C 22 STYK1 SNP 12 C A 10666533 10666533 Broad CASC1 55259 broad.mit.edu GRCh37 12 25297493 25297493 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000395987.3:c.808C>T p.His270Tyr p.H270Y ENST00000395987 NM_018272.3 270 Cac/Tac 0 Missense_Mutation G 46 CASC1 SNP 12 G A 25188760 25188760 Broad TMEM132D 121256 broad.mit.edu GRCh37 12 129566316 129566316 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000422113.2:c.1911G>A p.Met637Ile p.M637I ENST00000422113 NM_133448.2 637 atG/atA 0 Missense_Mutation C 29 TMEM132D SNP 12 C T 128132269 128132269 Broad RPGRIP1 57096 broad.mit.edu GRCh37 14 21785911 21785911 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000400017.2:c.1208C>A p.Ala403Glu p.A403E ENST00000400017 NM_020366.3 403 gCg/gAg 0 Missense_Mutation C 27 RPGRIP1 SNP 14 C A 20855751 20855751 Broad DACT1 51339 broad.mit.edu GRCh37 14 59112483 59112483 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000335867.4:c.1142C>T p.Pro381Leu p.P381L ENST00000335867 381 cCg/cTg 0 Missense_Mutation C 23 DACT1 SNP 14 C T 58182236 58182236 Broad AHNAK2 113146 broad.mit.edu GRCh37 14 105412407 105412407 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000333244.5:c.9381G>T p.Gly3127= p.G3127= ENST00000333244 NM_138420.2 3127 ggG/ggT 0 Silent C 22 AHNAK2 SNP 14 C A 104483452 104483452 Broad THBS1 7057 broad.mit.edu GRCh37 15 39880771 39880771 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000260356.5:c.1516G>C p.Val506Leu p.V506L ENST00000260356 NM_003246.2 506 Gtc/Ctc 0 Missense_Mutation G 48 THBS1 SNP 15 G C 37668063 37668063 Broad RPLP1 6176 broad.mit.edu GRCh37 15 69745309 69745309 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000260379.6:c.22G>A p.Ala8Thr p.A8T ENST00000260379 NM_001003.2 8 Gcc/Acc 0 Missense_Mutation G 38 RPLP1 SNP 15 G A 67532363 67532363 Broad MYH8 4626 broad.mit.edu GRCh37 17 10302910 10302910 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000403437.2:c.3812G>A p.Arg1271Gln p.R1271Q ENST00000403437 NM_002472.2 1271 cGg/cAg 0 Missense_Mutation C 23 MYH8 SNP 17 C T 10243635 10243635 Broad TRIM16 10626 broad.mit.edu GRCh37 17 15535020 15535020 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000455584.2:c.1024G>T p.Asp342Tyr p.D342Y ENST00000455584 342 Gac/Tac 0 Missense_Mutation C 29 TRIM16 SNP 17 C A 15475745 15475745 Broad NSF 4905 broad.mit.edu GRCh37 17 44828913 44828913 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000398238.4:c.2088G>A p.Gln696= p.Q696= ENST00000398238 NM_006178.3 696 caG/caA 0 Silent G 34 NSF SNP 17 G A 42184080 42184080 Broad THOC1 9984 broad.mit.edu GRCh37 18 223447 223447 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000261600.6:c.1363G>C p.Glu455Gln p.E455Q ENST00000261600 NM_005131.2 455 Gag/Cag 0 Missense_Mutation C 32 THOC1 SNP 18 C G 213447 213447 Broad DSG4 147409 broad.mit.edu GRCh37 18 28968372 28968372 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000359747.4:c.259A>T p.Ile87Phe p.I87F ENST00000359747 NM_001134453.1 87 Att/Ttt 0 Missense_Mutation A 12 DSG4 SNP 18 A T 27222370 27222370 Broad TSHZ3 57616 broad.mit.edu GRCh37 19 31768452 31768452 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000240587.4:c.2247G>A p.Met749Ile p.M749I ENST00000240587 NM_020856.2 749 atG/atA 0 Missense_Mutation C 25 TSHZ3 SNP 19 C T 36460292 36460292 Broad ZNF274 10782 broad.mit.edu GRCh37 19 58724491 58724491 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000326804.4:c.1941G>A p.Lys647= p.K647= ENST00000326804 NM_133502.2 647 aaG/aaA 0 Silent G 33 ZNF274 SNP 19 G A 63416303 63416303 Broad GMCL1 64395 broad.mit.edu GRCh37 2 70076786 70076786 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000282570.3:c.846G>T p.Trp282Cys p.W282C ENST00000282570 NM_178439.3 282 tgG/tgT 0 Missense_Mutation G 41 GMCL1 SNP 2 G T 69930290 69930290 Broad M1AP 130951 broad.mit.edu GRCh37 2 74787347 74787347 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000290536.5:c.1353C>A p.His451Gln p.H451Q ENST00000290536 NM_138804.4 451 caC/caA 0 Missense_Mutation G 44 C2orf65 SNP 2 G T 74640855 74640855 Broad SEMA4F 10505 broad.mit.edu GRCh37 2 74889904 74889904 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000357877.2:c.502G>A p.Gly168Arg p.G168R ENST00000357877 NM_004263.4 168 Ggg/Agg 0 Missense_Mutation G 43 SEMA4F SNP 2 G A 74743412 74743412 Broad STAM2 10254 broad.mit.edu GRCh37 2 152988652 152988652 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000263904.4:c.1001A>C p.Asp334Ala p.D334A ENST00000263904 NM_005843.4 334 gAt/gCt 0 Missense_Mutation T 50 STAM2 SNP 2 T G 152696898 152696898 Broad ZNF804A 91752 broad.mit.edu GRCh37 2 185800524 185800524 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000302277.6:c.401G>A p.Gly134Asp p.G134D ENST00000302277 NM_194250.1 134 gGc/gAc 0 Missense_Mutation G 42 ZNF804A SNP 2 G A 185508769 185508769 Broad PNKD 25953 broad.mit.edu GRCh37 2 219208278 219208278 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000273077.4:c.837G>T p.Leu279= p.L279= ENST00000273077 NM_015488.4 279 ctG/ctT 0 Silent G 47 PNKD SNP 2 G T 218916522 218916522 Broad PASK 23178 broad.mit.edu GRCh37 2 242078140 242078140 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000358649.4:c.670C>T p.Arg224Cys p.R224C ENST00000358649 224 Cgc/Tgc 0 Missense_Mutation G 38 PASK SNP 2 G A 241726813 241726813 Broad C20orf26 26074 broad.mit.edu GRCh37 20 20232314 20232314 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000245957.5:c.2235C>T p.Thr745= p.T745= ENST00000245957 NM_015585.3 745 acC/acT 0 Silent C 23 C20orf26 SNP 20 C T 20180314 20180314 Broad GTSE1 51512 broad.mit.edu GRCh37 22 46709817 46709817 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000454366.1:c.958C>T p.Pro320Ser p.P320S ENST00000454366 NM_016426.6 320 Ccc/Tcc 0 Missense_Mutation C 18 GTSE1 SNP 22 C T 45088481 45088481 Broad CSRNP1 64651 broad.mit.edu GRCh37 3 39185035 39185035 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000273153.5:c.1281C>T p.Asp427= p.D427= ENST00000273153 NM_033027.3 427 gaC/gaT 0 Silent G 48 CSRNP1 SNP 3 G A 39160039 39160039 Broad RAD54L2 23132 broad.mit.edu GRCh37 3 51663424 51663424 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000409535.2:c.416G>A p.Arg139His p.R139H ENST00000409535 NM_015106.2 139 cGc/cAc 0 Missense_Mutation G 38 RAD54L2 SNP 3 G A 51638464 51638464 Broad PHLDB2 90102 broad.mit.edu GRCh37 3 111603606 111603606 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000431670.2:c.682G>A p.Glu228Lys p.E228K ENST00000431670 NM_001134438.1 228 Gag/Aag 0 Missense_Mutation G 41 PHLDB2 SNP 3 G A 113086296 113086296 Broad PHLDB2 90102 broad.mit.edu GRCh37 3 111693368 111693368 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000431670.2:c.3720T>C p.Val1240= p.V1240= ENST00000431670 NM_001134438.1 1240 gtT/gtC 0 Silent T 61 PHLDB2 SNP 3 T C 113176058 113176058 Broad ACAD11 84129 broad.mit.edu GRCh37 3 132378535 132378535 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000264990.6:c.61G>A p.Asp21Asn p.D21N ENST00000264990 NM_032169.4 21 Gac/Aac 0 Missense_Mutation C 31 ACAD11 SNP 3 C T 133861225 133861225 Broad SLITRK3 22865 broad.mit.edu GRCh37 3 164906421 164906421 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000475390.1:c.2198C>A p.Ala733Asp p.A733D ENST00000475390 733 gCc/gAc 0 Missense_Mutation G 42 SLITRK3 SNP 3 G T 166389115 166389115 Broad PEX5L 51555 broad.mit.edu GRCh37 3 179527346 179527346 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000467460.1:c.1265A>C p.Lys422Thr p.K422T ENST00000467460 NM_001256751.1 422 aAg/aCg 0 Missense_Mutation T 56 PEX5L SNP 3 T G 181010040 181010040 Broad UBXN7 26043 broad.mit.edu GRCh37 3 196118689 196118689 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000296328.4:c.463G>C p.Glu155Gln p.E155Q ENST00000296328 NM_015562.1 155 Gaa/Caa 0 Missense_Mutation C 29 UBXN7 SNP 3 C G 197603086 197603086 Broad ADAMTS19 171019 broad.mit.edu GRCh37 5 128797400 128797400 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000274487.4:c.679C>A p.Leu227Met p.L227M ENST00000274487 NM_133638.3 227 Ctg/Atg 0 Missense_Mutation C 28 ADAMTS19 SNP 5 C A 128825299 128825299 Broad HAVCR1 26762 broad.mit.edu GRCh37 5 156482480 156482480 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000339252.3:c.111C>G p.His37Gln p.H37Q ENST00000339252 NM_012206.2 37 caC/caG 0 Missense_Mutation G 36 HAVCR1 SNP 5 G C 156415058 156415058 Broad ASCC3 10973 broad.mit.edu GRCh37 6 100957917 100957917 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000369162.2:c.6352A>G p.Ile2118Val p.I2118V ENST00000369162 NM_006828.2 2118 Ata/Gta 0 Missense_Mutation T 50 ASCC3 SNP 6 T C 101064638 101064638 Broad UST 10090 broad.mit.edu GRCh37 6 149285592 149285592 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000367463.4:c.574G>A p.Val192Ile p.V192I ENST00000367463 NM_005715.2 192 Gtc/Atc 0 Missense_Mutation G 40 UST SNP 6 G A 149327285 149327285 Broad PDE10A 10846 broad.mit.edu GRCh37 6 165806284 165806284 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000539869.2:c.1507T>G p.Phe503Val p.F503V ENST00000539869 NM_001130690.2 503 Ttt/Gtt 0 Missense_Mutation A 3 PDE10A SNP 6 A C 165726274 165726274 Broad PSMB1 5689 broad.mit.edu GRCh37 6 170846365 170846365 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000262193.6:c.497G>C p.Gly166Ala p.G166A ENST00000262193 NM_002793.3 166 gGa/gCa 0 Missense_Mutation C 30 PSMB1 SNP 6 C G 170688290 170688290 Broad DNAH11 8701 broad.mit.edu GRCh37 7 21726772 21726772 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000328843.6:c.5698G>T p.Gly1900Cys p.G1900C ENST00000328843 1900 Ggc/Tgc 0 Missense_Mutation G 47 DNAH11 SNP 7 G T 21693297 21693297 Broad FZD1 8321 broad.mit.edu GRCh37 7 90894996 90894996 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000287934.2:c.801C>T p.Gly267= p.G267= ENST00000287934 NM_003505.1 267 ggC/ggT 0 Silent C 27 FZD1 SNP 7 C T 90732932 90732932 Broad FOXP2 93986 broad.mit.edu GRCh37 7 114302155 114302155 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000408937.3:c.1758T>A p.Cys586Ter p.C586* ENST00000408937 NM_014491.3 586 tgT/tgA 0 Nonsense_Mutation T 60 FOXP2 SNP 7 T A 114089391 114089391 Broad OR6B1 135946 broad.mit.edu GRCh37 7 143701920 143701920 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000408922.2:c.831C>T p.Ala277= p.A277= ENST00000408922 NM_001005281.1 277 gcC/gcT 0 Silent C 21 OR6B1 SNP 7 C T 143332853 143332853 Broad CNTNAP2 26047 broad.mit.edu GRCh37 7 147914436 147914436 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000361727.3:c.3067G>A p.Ala1023Thr p.A1023T ENST00000361727 NM_014141.5 1023 Gca/Aca 0 Missense_Mutation G 34 CNTNAP2 SNP 7 G A 147545369 147545369 Broad PRKDC 5591 broad.mit.edu GRCh37 8 48841678 48841678 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000314191.2:c.2113G>A p.Ala705Thr p.A705T ENST00000314191 NM_006904.6 705 Gct/Act 0 Missense_Mutation C 25 PRKDC SNP 8 C T 49004231 49004231 Broad ZNF706 51123 broad.mit.edu GRCh37 8 102213962 102213962 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000520347.1:c.8G>C p.Arg3Pro p.R3P ENST00000520347 3 cGt/cCt 0 Missense_Mutation C 19 ZNF706 SNP 8 C G 102283138 102283138 Broad RIMS2 9699 broad.mit.edu GRCh37 8 104973342 104973342 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000406091.3:c.2751T>C p.Asp917= p.D917= ENST00000406091 NM_001100117.2 917 gaT/gaC 0 Silent T 51 RIMS2 SNP 8 T C 105042518 105042518 Broad PKHD1L1 93035 broad.mit.edu GRCh37 8 110457675 110457675 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000378402.5:c.5577C>T p.Gly1859= p.G1859= ENST00000378402 NM_177531.4 1859 ggC/ggT 0 Silent C 25 PKHD1L1 SNP 8 C T 110526851 110526851 Broad KIAA0196 9897 broad.mit.edu GRCh37 8 126091119 126091119 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000318410.7:c.572G>T p.Arg191Leu p.R191L ENST00000318410 NM_014846.3 191 cGa/cTa 0 Missense_Mutation C 31 KIAA0196 SNP 8 C A 126160301 126160301 Broad KIAA2026 158358 broad.mit.edu GRCh37 9 5923129 5923129 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000399933.3:c.2867G>A p.Ser956Asn p.S956N ENST00000399933 NM_001017969.2 956 aGc/aAc 0 Missense_Mutation C 28 KIAA2026 SNP 9 C T 5913129 5913129 Broad ZNF462 58499 broad.mit.edu GRCh37 9 109687547 109687547 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000277225.5:c.1354C>T p.Arg452Cys p.R452C ENST00000277225 452 Cgt/Tgt 0 Missense_Mutation C 19 ZNF462 SNP 9 C T 108727368 108727368 Broad MAGEB16 139604 broad.mit.edu GRCh37 X 35820780 35820780 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000399989.1:c.467T>G p.Leu156Arg p.L156R ENST00000399989 NM_001099921.1 156 cTg/cGg 0 Missense_Mutation T 55 MAGEB16 SNP 23 T G 35730701 35730701 Broad IL1RAPL2 26280 broad.mit.edu GRCh37 X 104440384 104440384 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000372582.1:c.310C>A p.His104Asn p.H104N ENST00000372582 NM_017416.1 104 Cac/Aac 0 Missense_Mutation C 29 IL1RAPL2 SNP 23 C A 104327040 104327040 Broad ZBTB33 10009 broad.mit.edu GRCh37 X 119388045 119388045 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown x x x ENST00000326624.2:c.775A>G p.Ser259Gly p.S259G ENST00000326624 NM_006777.3 259 Agc/Ggc 0 Missense_Mutation A 11 ZBTB33 SNP 23 A G 119272073 119272073 Broad TP53 7157 broad.mit.edu GRCh37 17 7578541 7578542 + frameshift_variant Frame_Shift_Ins INS - - GG novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.387_388dup p.Leu130ProfsTer41 p.L130Pfs*41 ENST00000269305 NM_001126112.2 130 ctc/cCCtc 0 Frame_Shift_Ins - 11 TP53 INS 17 - GG 7519267 7519266 Broad LPAR3 23566 broad.mit.edu GRCh37 1 85331281 85331281 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000440886.1:c.523del p.Ala175ProfsTer61 p.A175Pfs*61 ENST00000440886 175 Gcc/cc 0 Frame_Shift_Del C 25 LPAR3 DEL 1 - C 85103869 85103869 Broad CT47B1 643311 broad.mit.edu GRCh37 X 120008797 120008823 + inframe_deletion In_Frame_Del DEL TCCTCTGTGGCCTCCTCTGTGAGCTTC TCCTCTGTGGCCTCCTCTGTGAGCTTC - novel Unknown TCGA-13-1410-01 TCGA-13-1410-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000371311.3:c.702_728delGAAGCTCACAGAGGAGGCCACAGAGGA p.Lys235_Glu243del p.K235_E243del ENST00000371311 NM_001145718.1 234 gaGAAGCTCACAGAGGAGGCCACAGAGGAa/gaa 0 In_Frame_Del TCCTCTGTGGCCTCCTCTGTGAGCTTC 62 CT47B1 DEL 23 - TCCTCTGTGGCCTCCTCTGTGAGCTTC 119892851 119892825 Broad ANO6 196527 hgsc.bcm.edu GRCh37 12 45744463 45744463 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1623-01 TCGA-25-1623-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000423947.3:c.832G>C p.Glu278Gln p.E278Q ENST00000423947 NM_001204803.1 278 Gag/Cag 0 Missense_Mutation G 33 ANO6 SNP 12 G C 44030730 44030730 Baylor CAPN5 726 hgsc.bcm.edu GRCh37 11 76823744 76823744 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1623-01 TCGA-25-1623-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000278559.3:c.407T>C p.Ile136Thr p.I136T ENST00000278559 NM_004055.4 136 aTc/aCc 0 Missense_Mutation T 50 CAPN5 SNP 11 T C 76501392 76501392 Baylor CARD14 79092 hgsc.bcm.edu GRCh37 17 78176044 78176044 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1623-01 TCGA-25-1623-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000573882.1:c.2044C>T p.Arg682Trp p.R682W ENST00000573882 682 Cgg/Tgg 0 Missense_Mutation C 23 CARD14 SNP 17 C T 75790639 75790639 Baylor CYP4Z1 199974 hgsc.bcm.edu GRCh37 1 47533219 47533219 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-1623-01 TCGA-25-1623-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000334194.3:c.57C>A p.Leu19= p.L19= ENST00000334194 NM_178134.2 19 ctC/ctA 0 Silent C 30 CYP4Z1 SNP 1 C A 47305806 47305806 Baylor EZH1 2145 hgsc.bcm.edu GRCh37 17 40854913 40854913 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1623-01 TCGA-25-1623-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000428826.2:c.2165A>T p.Glu722Val p.E722V ENST00000428826 722 gAg/gTg 0 Missense_Mutation T 54 EZH1 SNP 17 T A 38108439 38108439 Baylor KALRN 8997 hgsc.bcm.edu GRCh37 3 124117635 124117635 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-25-1623-01 TCGA-25-1623-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000240874.3:c.2257C>T p.Gln753Ter p.Q753* ENST00000240874 NM_003947.4 753 Cag/Tag 0 Nonsense_Mutation C 25 KALRN SNP 3 C T 125600325 125600325 Baylor KDM6A 7403 hgsc.bcm.edu GRCh37 X 44922760 44922760 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-25-1623-01 TCGA-25-1623-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000377967.4:c.1621C>T p.Gln541Ter p.Q541* ENST00000377967 NM_021140.2 541 Cag/Tag 0 Nonsense_Mutation C 21 KDM6A SNP 23 C T 44807704 44807704 Baylor NR1H4 9971 hgsc.bcm.edu GRCh37 12 100930826 100930826 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-25-1623-01 TCGA-25-1623-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000551379.1:c.961+1G>A p.X321_splice ENST00000551379 0 Splice_Site_SNP G 44 NR1H4 SNP 12 G A 99454957 99454957 Baylor OR10H1 26539 hgsc.bcm.edu GRCh37 19 15918380 15918380 + synonymous_variant Silent SNP C C T rs28426969 Unknown TCGA-25-1623-01 TCGA-25-1623-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000334920.2:c.468G>A p.Gly156= p.G156= ENST00000334920 NM_013940.2 156 ggG/ggA 0 Silent C 30 OR10H1 SNP 19 C T 15779380 15779380 Baylor POLB 5423 hgsc.bcm.edu GRCh37 8 42206585 42206585 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1623-01 TCGA-25-1623-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000265421.4:c.238G>A p.Gly80Arg p.G80R ENST00000265421 NM_002690.2 80 Gga/Aga 0 Missense_Mutation G 47 POLB SNP 8 G A 42325742 42325742 Baylor POU5F1 5460 hgsc.bcm.edu GRCh37 6 31133009 31133009 + missense_variant Missense_Mutation SNP C C G rs60346131 Unknown TCGA-25-1623-01 TCGA-25-1623-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000259915.8:c.712G>C p.Glu238Gln p.E238Q ENST00000259915 NM_002701.4 238 Gag/Cag 0 Missense_Mutation C 31 POU5F1 SNP 6 C G 31240988 31240988 Baylor PRDM2 7799 hgsc.bcm.edu GRCh37 1 14106394 14106395 + inframe_insertion In_Frame_Ins INS - - CTC rs2308040 Unknown TCGA-25-1623-01 TCGA-25-1623-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000235372.7:c.2107_2109dup p.Pro703dup p.P703dup ENST00000235372 NM_012231.4 702 act/aCTCct 0 In_Frame_Ins - 2 PRDM2 INS 1 - CTC 13978982 13978981 Baylor PSD3 23362 hgsc.bcm.edu GRCh37 8 18662068 18662068 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1623-01 TCGA-25-1623-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000327040.8:c.1874T>C p.Phe625Ser p.F625S ENST00000327040 NM_015310.3 625 tTt/tCt 0 Missense_Mutation A 1 PSD3 SNP 8 A G 18706348 18706348 Baylor SLC13A1 6561 hgsc.bcm.edu GRCh37 7 122787229 122787229 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1623-01 TCGA-25-1623-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000194130.2:c.796G>A p.Ala266Thr p.A266T ENST00000194130 NM_022444.3 266 Gca/Aca 0 Missense_Mutation C 25 SLC13A1 SNP 7 C T 122574465 122574465 Baylor TMEM37 140738 hgsc.bcm.edu GRCh37 2 120194651 120194651 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1623-01 TCGA-25-1623-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000306406.4:c.208A>C p.Thr70Pro p.T70P ENST00000306406 NM_183240.2 70 Acg/Ccg 0 Missense_Mutation A 10 TMEM37 SNP 2 A C 119911121 119911121 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577094 7577094 + missense_variant Missense_Mutation SNP G G A rs28934574 Unknown TCGA-25-1623-01 TCGA-25-1623-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.844C>T p.Arg282Trp p.R282W ENST00000269305 NM_001126112.2 282 Cgg/Tgg 0 Missense_Mutation G 39 TP53 SNP 17 G A 7517819 7517819 Baylor UBR4 23352 hgsc.bcm.edu GRCh37 1 19442101 19442101 + synonymous_variant Silent SNP A A C novel Unknown TCGA-25-1623-01 TCGA-25-1623-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000375254.3:c.10854T>G p.Val3618= p.V3618= ENST00000375254 NM_020765.2 3618 gtT/gtG 0 Silent A 9 UBR4 SNP 1 A C 19314688 19314688 Baylor VANGL2 57216 hgsc.bcm.edu GRCh37 1 160390289 160390289 + missense_variant Missense_Mutation SNP G G A rs61744131 Unknown TCGA-25-1623-01 TCGA-25-1623-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368061.2:c.889G>A p.Val297Ile p.V297I ENST00000368061 NM_020335.2 297 Gtc/Atc 0 Missense_Mutation G 40 VANGL2 SNP 1 G A 158656913 158656913 Baylor ZNF267 10308 hgsc.bcm.edu GRCh37 16 31926955 31926955 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1623-01 TCGA-25-1623-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000300870.10:c.1385A>G p.Lys462Arg p.K462R ENST00000300870 NM_003414.5 462 aAa/aGa 0 Missense_Mutation A 1 ZNF267 SNP 16 A G 31834456 31834456 Baylor CARS 833 genome.wustl.edu GRCh37 11 3048008 3048008 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380525.4:c.1051G>C p.Val351Leu p.V351L ENST00000380525 NM_001194997.1 351 Gtc/Ctc 0 Missense_Mutation C 17 CARS SNP 11 C G 3004584 3004584 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577609 7577609 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.673-1G>A p.X225_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 24 TP53 SNP 17 T T 7518334 7518334 WashU GPR78 27201 genome.wustl.edu GRCh37 4 8584315 8584315 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382487.4:c.726G>T p.Lys242Asn p.K242N ENST00000382487 NM_080819.4 242 aaG/aaT 0 Missense_Mutation G 33 GPR78 SNP 4 T T 8635215 8635215 WashU PZP 5858 genome.wustl.edu GRCh37 12 9355158 9355158 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000261336.2:c.390C>T p.Val130= p.V130= ENST00000261336 NM_002864.2 130 gtC/gtT 0 Silent G 41 PZP SNP 12 G A 9246425 9246425 WashU WWC3 55841 genome.wustl.edu GRCh37 X 10035469 10035469 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380861.4:c.159C>T p.Ala53= p.A53= ENST00000380861 NM_015691.3 53 gcC/gcT 0 Silent C 22 WWC3 SNP 23 C T 9995469 9995469 WashU CSGALNACT1 55790 genome.wustl.edu GRCh37 8 19316132 19316132 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000454498.2:c.656A>G p.Asp219Gly p.D219G ENST00000454498 NM_001130518.1 219 gAc/gGc 0 Missense_Mutation T 58 CSGALNACT1 SNP 8 T C 19360412 19360412 WashU RP11-701I24.1 645490 genome.wustl.edu GRCh37 11 20596274 20596275 + non_coding_transcript_exon_variant RNA DNP GG GG TC novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 GG GG TC TC GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000525121.1:n.242_243delinsTC *81* ENST00000525121 0 Missense GG 47 LOC645490 DNP 11 TC TC 20552851 20552850 WashU EBF2 64641 genome.wustl.edu GRCh37 8 25899653 25899653 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000520164.1:c.246G>T p.Glu82Asp p.E82D ENST00000520164 NM_022659.3 82 gaG/gaT 0 Missense_Mutation C 32 EBF2 SNP 8 C A 25955570 25955570 WashU HOXA2 3199 genome.wustl.edu GRCh37 7 27140404 27140404 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000222718.5:c.1072A>G p.Ser358Gly p.S358G ENST00000222718 NM_006735.3 358 Agc/Ggc 0 Missense_Mutation T 55 HOXA2 SNP 7 T C 27106929 27106929 WashU CLU 1191 genome.wustl.edu GRCh37 8 27462678 27462678 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316403.10:c.592C>T p.Arg198Trp p.R198W ENST00000316403 198 Cgg/Tgg 0 Missense_Mutation G 39 CLU SNP 8 G A 27518595 27518595 WashU TRAPPC8 22878 genome.wustl.edu GRCh37 18 29444598 29444598 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000283351.4:c.2737C>T p.Leu913= p.L913= ENST00000283351 NM_014939.3 913 Ctg/Ttg 0 Silent G 36 TRAPPC8 SNP 18 G A 27698596 27698596 WashU TRIM39 56658 genome.wustl.edu GRCh37 6 30309530 30309530 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376656.4:c.1051G>C p.Val351Leu p.V351L ENST00000376656 NM_021253.3 351 Gtc/Ctc 0 Missense_Mutation G 36 TRIM39 SNP 6 G C 30417509 30417509 WashU RBBP4 5928 genome.wustl.edu GRCh37 1 33123108 33123108 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373493.5:c.245C>A p.Ala82Asp p.A82D ENST00000373493 NM_005610.2 82 gCc/gAc 0 Missense_Mutation C 26 RBBP4 SNP 1 C A 32895695 32895695 WashU SON 6651 genome.wustl.edu GRCh37 21 34926882 34926882 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356577.4:c.5345C>T p.Ser1782Phe p.S1782F ENST00000356577 NM_138927.2 1782 tCt/tTt 0 Missense_Mutation C 32 SON SNP 21 C T 33848752 33848752 WashU CA9 768 genome.wustl.edu GRCh37 9 35676372 35676372 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378357.4:c.826G>A p.Ala276Thr p.A276T ENST00000378357 NM_001216.2 276 Gcc/Acc 0 Missense_Mutation G 42 CA9 SNP 9 G A 35666372 35666372 WashU MAGEB16 139604 genome.wustl.edu GRCh37 X 35820616 35820616 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399989.1:c.303T>A p.Asp101Glu p.D101E ENST00000399989 NM_001099921.1 101 gaT/gaA 0 Missense_Mutation T 49 MAGEB16 SNP 23 T A 35730537 35730537 WashU FAM47C 442444 genome.wustl.edu GRCh37 X 37028413 37028413 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000358047.3:c.1930C>G p.Pro644Ala p.P644A ENST00000358047 NM_001013736.2 644 Ccg/Gcg 0 Missense_Mutation C 22 FAM47C SNP 23 C G 36938334 36938334 WashU SOS1 6654 genome.wustl.edu GRCh37 2 39213276 39213276 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000402219.2:c.3691C>G p.Leu1231Val p.L1231V ENST00000402219 NM_005633.3 1231 Cta/Gta 0 Missense_Mutation G 36 SOS1 SNP 2 G C 39066780 39066780 WashU CDKL4 344387 genome.wustl.edu GRCh37 2 39440595 39440595 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378803.1:c.309C>G p.Ile103Met p.I103M ENST00000378803 NM_001009565.1 103 atC/atG 0 Missense_Mutation G 45 CDKL4 SNP 2 G C 39294099 39294099 WashU RTF1 23168 genome.wustl.edu GRCh37 15 41772484 41772484 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389629.4:c.1987G>C p.Asp663His p.D663H ENST00000389629 NM_015138.4 663 Gat/Cat 0 Missense_Mutation G 37 RTF1 SNP 15 G C 39559776 39559776 WashU SLC28A2 9153 genome.wustl.edu GRCh37 15 45554233 45554233 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000347644.3:c.191G>A p.Ser64Asn p.S64N ENST00000347644 NM_004212.3 64 aGc/aAc 0 Missense_Mutation G 34 SLC28A2 SNP 15 G A 43341525 43341525 WashU ELK1 2002 genome.wustl.edu GRCh37 X 47500736 47500736 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000247161.3:c.105G>C p.Lys35Asn p.K35N ENST00000247161 NM_005229.4 35 aaG/aaC 0 Missense_Mutation C 28 ELK1 SNP 23 C G 47385680 47385680 WashU PKD1L1 168507 genome.wustl.edu GRCh37 7 47906198 47906198 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000289672.2:c.3911T>G p.Leu1304Arg p.L1304R ENST00000289672 NM_138295.3 1304 cTg/cGg 0 Missense_Mutation A 7 PKD1L1 SNP 7 A C 47872723 47872723 WashU PKD1L1 168507 genome.wustl.edu GRCh37 7 47933590 47933590 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000289672.2:c.2338C>A p.Pro780Thr p.P780T ENST00000289672 NM_138295.3 780 Cct/Act 0 Missense_Mutation G 43 PKD1L1 SNP 7 G T 47900115 47900115 WashU ZNF229 7772 genome.wustl.edu GRCh37 19 44934173 44934173 + synonymous_variant Silent SNP T T C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000588931.1:c.783A>G p.Gly261= p.G261= ENST00000588931 NM_014518.2 261 ggA/ggG 0 Silent T 54 ZNF229 SNP 19 T C 49626013 49626013 WashU ARL15 54622 genome.wustl.edu GRCh37 5 53467629 53467629 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000504924.1:c.178G>T p.Val60Phe p.V60F ENST00000504924 NM_019087.2 60 Gtc/Ttc 0 Missense_Mutation C 19 ARL15 SNP 5 C A 53503386 53503386 WashU OR5I1 10798 genome.wustl.edu GRCh37 11 55703285 55703285 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000301532.3:c.592G>A p.Glu198Lys p.E198K ENST00000301532 NM_006637.1 198 Gag/Aag 0 Missense_Mutation C 29 OR5I1 SNP 11 C T 55459861 55459861 WashU DIAPH3 81624 genome.wustl.edu GRCh37 13 60413502 60413502 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400324.4:c.2818C>T p.Pro940Ser p.P940S ENST00000400324 NM_001042517.1 940 Ccc/Tcc 0 Missense_Mutation G 41 DIAPH3 SNP 13 G A 59311503 59311503 WashU HERC1 8925 genome.wustl.edu GRCh37 15 63952072 63952072 + stop_gained Nonsense_Mutation SNP A A C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000443617.2:c.9287T>G p.Leu3096Ter p.L3096* ENST00000443617 NM_003922.3 3096 tTa/tGa 0 Nonsense_Mutation A 13 HERC1 SNP 15 A C 61739125 61739125 WashU ADAMTS3 9508 genome.wustl.edu GRCh37 4 73171758 73171758 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286657.4:c.2206C>G p.Pro736Ala p.P736A ENST00000286657 NM_014243.2 736 Cct/Gct 0 Missense_Mutation G 43 ADAMTS3 SNP 4 G C 73390622 73390622 WashU SEC11A 23478 genome.wustl.edu GRCh37 15 85213257 85213257 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268220.7:c.533G>A p.Arg178His p.R178H ENST00000268220 NM_014300.3 178 cGt/cAt 0 Missense_Mutation C 19 SEC11A SNP 15 C T 83014261 83014261 WashU LRRIQ1 84125 genome.wustl.edu GRCh37 12 85466872 85466872 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393217.2:c.2883G>C p.Trp961Cys p.W961C ENST00000393217 NM_001079910.1 961 tgG/tgC 0 Missense_Mutation G 41 LRRIQ1 SNP 12 G C 83991003 83991003 WashU SYDE2 84144 genome.wustl.edu GRCh37 1 85655917 85655917 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341460.5:c.1264T>G p.Ser422Ala p.S422A ENST00000341460 NM_032184.1 422 Tca/Gca 0 Missense_Mutation A 11 SYDE2 SNP 1 A C 85428505 85428505 WashU IGKV1D-43 genome.wustl.edu GRCh37 2 90249162 90249162 + synonymous_variant Silent SNP A A C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000468879.1:c.118A>C p.Arg40= p.R40= ENST00000468879 40 Aga/Cga 0 Silent A 7 ENSG00000211634 SNP 2 A C 89886467 89886467 WashU NR2F1 7025 genome.wustl.edu GRCh37 5 92929415 92929415 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327111.3:c.1139T>G p.Val380Gly p.V380G ENST00000327111 NM_005654.4 380 gTg/gGg 0 Missense_Mutation T 59 NR2F1 SNP 5 T G 92955171 92955171 WashU HEPHL1 341208 genome.wustl.edu GRCh37 11 93839282 93839282 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315765.9:c.3031A>T p.Ser1011Cys p.S1011C ENST00000315765 NM_001098672.1 1011 Agc/Tgc 0 Missense_Mutation A 11 HEPHL1 SNP 11 A T 93478930 93478930 WashU HEMGN 55363 genome.wustl.edu GRCh37 9 100693217 100693217 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000259456.3:c.460G>T p.Ala154Ser p.A154S ENST00000259456 NM_018437.4 154 Gca/Tca 0 Missense_Mutation C 28 HEMGN SNP 9 C A 99733038 99733038 WashU CHUK 1147 genome.wustl.edu GRCh37 10 101978483 101978483 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370397.7:c.789C>T p.Ser263= p.S263= ENST00000370397 NM_001278.3 263 agC/agT 0 Silent G 42 CHUK SNP 10 G A 101968473 101968473 WashU RIMS2 9699 genome.wustl.edu GRCh37 8 105010466 105010466 + intron_variant Intron SNP A A T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000406091.3:c.3044+8817A>T *1015* ENST00000406091 NM_001100117.2 0 Missense_Mutation A 6 RIMS2 SNP 8 A T 105079642 105079642 WashU IGHV1-18 genome.wustl.edu GRCh37 14 106641705 106641705 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390605.2:c.209T>A p.Ile70Asn p.I70N ENST00000390605 70 aTc/aAc 0 Missense_Mutation A 12 ENSG00000211945 SNP 14 A T 105712750 105712750 WashU SMC2 10592 genome.wustl.edu GRCh37 9 106887320 106887320 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286398.7:c.2385G>A p.Gln795= p.Q795= ENST00000286398 NM_006444.2 795 caG/caA 0 Silent G 33 SMC2 SNP 9 G A 105927141 105927141 WashU BEND3 57673 genome.wustl.edu GRCh37 6 107391738 107391738 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000429433.2:c.657G>A p.Leu219= p.L219= ENST00000429433 NM_001080450.2 219 ctG/ctA 0 Silent C 25 BEND3 SNP 6 C T 107498431 107498431 WashU ACAD10 80724 genome.wustl.edu GRCh37 12 112187149 112187149 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000455480.2:c.2910C>T p.Arg970= p.R970= ENST00000455480 NM_001136538.1 970 cgC/cgT 0 Silent C 27 ACAD10 SNP 12 C T 110671532 110671532 WashU SVEP1 79987 genome.wustl.edu GRCh37 9 113169063 113169063 + synonymous_variant Silent SNP T T G novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000401783.2:c.8817A>C p.Ala2939= p.A2939= ENST00000401783 NM_153366.3 2939 gcA/gcC 0 Silent T 55 SVEP1 SNP 9 T G 112208884 112208884 WashU ZCCHC12 170261 genome.wustl.edu GRCh37 X 117959654 117959654 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310164.2:c.447G>A p.Val149= p.V149= ENST00000310164 NM_173798.2 149 gtG/gtA 0 Silent G 45 ZCCHC12 SNP 23 G A 117843682 117843682 WashU PTPRZ1 5803 genome.wustl.edu GRCh37 7 121698857 121698857 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393386.2:c.6532G>A p.Asp2178Asn p.D2178N ENST00000393386 NM_001206838.1 2178 Gat/Aat 0 Missense_Mutation G 45 PTPRZ1 SNP 7 G A 121486093 121486093 WashU C11orf63 79864 genome.wustl.edu GRCh37 11 122774724 122774724 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000227349.2:c.436G>C p.Ala146Pro p.A146P ENST00000227349 NM_024806.3 146 Gcg/Ccg 0 Missense_Mutation G 34 C11orf63 SNP 11 G C 122279934 122279934 WashU THOC2 57187 genome.wustl.edu GRCh37 X 122829904 122829904 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000245838.8:c.568G>A p.Asp190Asn p.D190N ENST00000245838 NM_001081550.1 190 Gat/Aat 0 Missense_Mutation C 29 THOC2 SNP 23 C T 122657585 122657585 WashU FBXO40 51725 genome.wustl.edu GRCh37 3 121341495 121341495 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338040.4:c.1219G>T p.Glu407Ter p.E407* ENST00000338040 NM_016298.3 407 Gaa/Taa 0 Nonsense_Mutation G 33 FBXO40 SNP 3 G T 122824185 122824185 WashU LAMA2 3908 genome.wustl.edu GRCh37 6 129826344 129826344 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000421865.2:c.8548-1G>T p.X2850_splice ENST00000421865 NM_001079823.1 0 Splice_Site_SNP G 33 LAMA2 SNP 6 T T 129868037 129868037 WashU MEST 4232 genome.wustl.edu GRCh37 7 130138007 130138007 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000223215.4:c.367C>T p.Gln123Ter p.Q123* ENST00000223215 NM_001253900.1 123 Cag/Tag 0 Nonsense_Mutation C 25 MEST SNP 7 C T 129925243 129925243 WashU PLXNA4 91584 genome.wustl.edu GRCh37 7 131833364 131833364 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359827.3:c.4702G>T p.Glu1568Ter p.E1568* ENST00000359827 1568 Gaa/Taa 0 Nonsense_Mutation C 29 PLXNA4 SNP 7 C A 131483904 131483904 WashU AKAP7 9465 genome.wustl.edu GRCh37 6 131602692 131602692 + synonymous_variant Silent SNP C C G novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000431975.2:c.873C>G p.Pro291= p.P291= ENST00000431975 NM_016377.3 291 ccC/ccG 0 Silent C 23 AKAP7 SNP 6 C G 131644385 131644385 WashU ENPP3 5169 genome.wustl.edu GRCh37 6 131995408 131995408 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000414305.1:c.749G>A p.Trp250Ter p.W250* ENST00000414305 250 tGg/tAg 0 Nonsense_Mutation G 47 ENPP3 SNP 6 G A 132037101 132037101 WashU CLGN 1047 genome.wustl.edu GRCh37 4 141311798 141311798 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000325617.5:c.1736C>T p.Ser579Phe p.S579F ENST00000325617 NM_004362.2 579 tCt/tTt 0 Missense_Mutation G 33 CLGN SNP 4 G A 141531248 141531248 WashU HIVEP2 3097 genome.wustl.edu GRCh37 6 143090799 143090799 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367603.2:c.5077C>G p.Leu1693Val p.L1693V ENST00000367603 NM_006734.3 1693 Ctt/Gtt 0 Missense_Mutation G 33 HIVEP2 SNP 6 G C 143132492 143132492 WashU IVL 3713 genome.wustl.edu GRCh37 1 152882578 152882578 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368764.3:c.305A>C p.Glu102Ala p.E102A ENST00000368764 102 gAa/gCa 0 Missense_Mutation A 9 IVL SNP 1 A C 151149202 151149202 WashU SCN9A 6335 genome.wustl.edu GRCh37 2 167143055 167143055 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409672.1:c.1393A>T p.Thr465Ser p.T465S ENST00000409672 NM_002977.3 465 Aca/Tca 0 Missense_Mutation T 60 SCN9A SNP 2 T A 166851301 166851301 WashU TENM2 57451 genome.wustl.edu GRCh37 5 167642199 167642199 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000518659.1:c.4000G>C p.Glu1334Gln p.E1334Q ENST00000518659 NM_001122679.1 1334 Gag/Cag 0 Missense_Mutation G 33 ODZ2 SNP 5 G C 167574777 167574777 WashU LRP2 4036 genome.wustl.edu GRCh37 2 169989189 169989189 + splice_region_variant,synonymous_variant Splice_Region SNP C C G novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263816.3:c.13623G>C p.Val4541= p.V4541= ENST00000263816 NM_004525.2 4541 gtG/gtC 0 Silent C 29 LRP2 SNP 2 C G 169697435 169697435 WashU ZNF354A 6940 genome.wustl.edu GRCh37 5 178139749 178139749 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335815.2:c.1130C>A p.Thr377Asn p.T377N ENST00000335815 NM_005649.2 377 aCt/aAt 0 Missense_Mutation G 36 ZNF354A SNP 5 G T 178072355 178072355 WashU GLS 2744 genome.wustl.edu GRCh37 2 191819354 191819354 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000320717.3:c.1757C>G p.Ser586Cys p.S586C ENST00000320717 NM_014905.4 586 tCt/tGt 0 Missense_Mutation C 32 GLS SNP 2 C G 191527599 191527599 WashU CRB1 23418 genome.wustl.edu GRCh37 1 197391053 197391053 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367400.3:c.2095C>T p.His699Tyr p.H699Y ENST00000367400 NM_201253.2 699 Cac/Tac 0 Missense_Mutation C 21 CRB1 SNP 1 C T 195657676 195657676 WashU ETNK2 55224 genome.wustl.edu GRCh37 1 204116636 204116636 + intron_variant Intron SNP G G T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367202.4:c.519-744C>A *173* ENST00000367202 NM_018208.2 0 Missense_Mutation G 48 ETNK2 SNP 1 G T 202383259 202383259 WashU FAM183A 440585 genome.wustl.edu GRCh37 1 43616454 43616454 + synonymous_variant Silent SNP C C G Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C C G C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000335282.4:c.156C>G p.Pro52= p.P52= ENST00000335282 NM_001101376.2 52 ccC/ccG 0 Silent C 21 FAM183A SNP 1 C G 43389041 43389041 WashU PC 5091 genome.wustl.edu GRCh37 11 66618550 66618550 + synonymous_variant Silent SNP T T C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393960.1:c.2184A>G p.Glu728= p.E728= ENST00000393960 NM_001040716.1 728 gaA/gaG 0 Silent T 56 PC SNP 11 T C 66375126 66375126 WashU PDE2A 5138 genome.wustl.edu GRCh37 11 72300239 72300239 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334456.5:c.919C>A p.Gln307Lys p.Q307K ENST00000334456 NM_002599.4 307 Cag/Aag 0 Missense_Mutation G 47 PDE2A SNP 11 G T 71977887 71977887 WashU OTOP2 92736 genome.wustl.edu GRCh37 17 72929593 72929593 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331427.4:c.1642C>T p.Arg548Cys p.R548C ENST00000331427 NM_178160.2 548 Cgc/Tgc 0 Missense_Mutation C 23 OTOP2 SNP 17 T T 70441188 70441188 WashU AP1M1 8907 genome.wustl.edu GRCh37 19 16345060 16345060 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01 TCGA-04-1362-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000444449.2:c.1260G>C p.Trp420Cys p.W420C ENST00000444449 NM_001130524.1 420 tgG/tgC 0 Missense_Mutation G 43 AP1M1 SNP 19 G C 16206060 16206060 WashU CNNM3 26505 genome.wustl.edu GRCh37 2 97490936 97490936 + missense_variant,splice_region_variant Missense_Mutation SNP A A G Unknown TCGA-04-1362-01 TCGA-04-1362-10 A A A G A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000305510.3:c.1367A>G p.Tyr456Cys p.Y456C ENST00000305510 NM_017623.4 456 tAc/tGc 0 Missense_Mutation A 14 CNNM3 SNP 2 A G 96854663 96854663 WashU TDP1 55775 genome.wustl.edu GRCh37 14 90429796 90429799 + frameshift_variant Frame_Shift_Del DEL AGAA AGAA - Unknown TCGA-04-1362-01 TCGA-04-1362-10 AGAA AGAA AGAA - AGAA AGAA Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000335725.4:c.341_344del p.Lys114ThrfsTer98 p.K114Tfs*98 ENST00000335725 NM_018319.3 113 gAGAAa/ga 0 Frame_Shift_Del AGAA 11 TDP1 DEL 14 AGAA - 89499552 89499549 WashU JUP 3728 genome.wustl.edu GRCh37 17 39912440 39912442 + inframe_deletion In_Frame_Del DEL CTC CTC - Unknown TCGA-04-1362-01 TCGA-04-1362-10 CTC CTC CTC - CTC CTC Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000393931.3:c.2071_2073del p.Glu691del p.E691del ENST00000393931 NM_002230.2 691 GAG/- 0 In_Frame_Del CTC 28 JUP DEL 17 CTC - 37165968 37165966 WashU SCRN2 90507 genome.wustl.edu GRCh37 17 45915948 45915948 + missense_variant Missense_Mutation SNP T T A Unknown TCGA-04-1362-01 TCGA-04-1362-10 T T T A T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000290216.9:c.887A>T p.Asp296Val p.D296V ENST00000290216 NM_001145023.1 296 gAt/gTt 0 Missense_Mutation T 50 SCRN2 SNP 17 T A 43270947 43270947 WashU ABCA12 26154 hgsc.bcm.edu GRCh37 2 215914348 215914348 + splice_donor_variant Splice_Site SNP A A T novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000272895.7:c.693+2T>A p.X231_splice ENST00000272895 NM_173076.2 0 Splice_Site_SNP A 6 ABCA12 SNP 2 A T 215622593 215622593 Baylor APEH 327 hgsc.bcm.edu GRCh37 3 49712671 49712671 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000296456.5:c.201C>A p.Tyr67Ter p.Y67* ENST00000296456 NM_001640.3 67 taC/taA 0 Nonsense_Mutation C 18 APEH SNP 3 C A 49687675 49687675 Baylor ATG3 64422 hgsc.bcm.edu GRCh37 3 112280341 112280341 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000283290.5:c.35C>T p.Ala12Val p.A12V ENST00000283290 NM_022488.4 12 gCa/gTa 0 Missense_Mutation G 46 ATG3 SNP 3 G A 113763031 113763031 Baylor BRWD3 254065 hgsc.bcm.edu GRCh37 X 79988966 79988966 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373275.4:c.1116C>T p.Asn372= p.N372= ENST00000373275 NM_153252.4 372 aaC/aaT 0 Silent G 48 BRWD3 SNP 23 G A 79875622 79875622 Baylor GPATCH2L 55668 hgsc.bcm.edu GRCh37 14 76638272 76638272 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261530.7:c.814G>C p.Asp272His p.D272H ENST00000261530 NM_017926.2 272 Gat/Cat 0 Missense_Mutation G 45 C14orf118 SNP 14 G C 75708025 75708025 Baylor C3orf20 84077 hgsc.bcm.edu GRCh37 3 14768465 14768465 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000253697.3:c.1624G>T p.Ala542Ser p.A542S ENST00000253697 NM_032137.4 542 Gct/Tct 0 Missense_Mutation G 42 C3orf20 SNP 3 G T 14743469 14743469 Baylor CD3E 916 hgsc.bcm.edu GRCh37 11 118186243 118186243 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361763.4:c.610C>G p.Gln204Glu p.Q204E ENST00000361763 NM_000733.3 204 Cag/Gag 0 Missense_Mutation C 29 CD3E SNP 11 C G 117691453 117691453 Baylor DDIT3 1649 hgsc.bcm.edu GRCh37 12 57910760 57910760 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000551116.1:c.411G>A p.Arg137= p.R137= ENST00000551116 NM_001195054.1 137 cgG/cgA 0 Silent C 22 DDIT3 SNP 12 C T 56197027 56197027 Baylor DNMT1 1786 hgsc.bcm.edu GRCh37 19 10248608 10248608 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000340748.4:c.4145C>T p.Ser1382Leu p.S1382L ENST00000340748 1382 tCg/tTg 0 Missense_Mutation G 37 DNMT1 SNP 19 G A 10109608 10109608 Baylor GABRE 2564 hgsc.bcm.edu GRCh37 X 151129761 151129761 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000370328.3:c.640T>C p.Ser214Pro p.S214P ENST00000370328 NM_004961.3 214 Tct/Cct 0 Missense_Mutation A 11 GABRE SNP 23 A G 150880417 150880417 Baylor ITSN1 6453 hgsc.bcm.edu GRCh37 21 35195811 35195812 + stop_gained,frameshift_variant Nonsense_Mutation INS - - A novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381318.3:c.3038dup p.Tyr1013Ter p.Y1013* ENST00000381318 NM_003024.2 1013 tac/tAac 0 Frame_Shift_Ins - 61 ITSN1 INS 21 - A 34117682 34117681 Baylor OCA2 4948 hgsc.bcm.edu GRCh37 15 28196959 28196959 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000354638.3:c.1922C>G p.Ser641Trp p.S641W ENST00000354638 NM_000275.2 641 tCg/tGg 0 Missense_Mutation G 37 OCA2 SNP 15 G C 25870554 25870554 Baylor OLFM1 10439 hgsc.bcm.edu GRCh37 9 138011971 138011971 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000252854.4:c.1351C>A p.Gln451Lys p.Q451K ENST00000252854 NM_014279.4 451 Cag/Aag 0 Missense_Mutation C 21 OLFM1 SNP 9 C A 137151792 137151792 Baylor OR2D2 120776 hgsc.bcm.edu GRCh37 11 6913264 6913264 + synonymous_variant Silent SNP A A C novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000299459.2:c.468T>G p.Ser156= p.S156= ENST00000299459 NM_003700.1 156 tcT/tcG 0 Silent A 7 OR2D2 SNP 11 A C 6869840 6869840 Baylor PCDHGC5 56097 hgsc.bcm.edu GRCh37 5 140870326 140870326 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000252087.1:c.1519G>A p.Val507Met p.V507M ENST00000252087 NM_018929.2 507 Gtg/Atg 0 Missense_Mutation G 48 PCDHGC5 SNP 5 G A 140850510 140850510 Baylor PLB1 151056 hgsc.bcm.edu GRCh37 2 28849343 28849343 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000327757.5:c.3628G>T p.Val1210Phe p.V1210F ENST00000327757 NM_153021.4 1210 Gtc/Ttc 0 Missense_Mutation G 44 PLB1 SNP 2 G T 28702847 28702847 Baylor RPS18 6222 hgsc.bcm.edu GRCh37 6 33240430 33240430 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000439602.2:c.29A>G p.Gln10Arg p.Q10R ENST00000439602 10 cAg/cGg 0 Missense_Mutation A 7 RPS18 SNP 6 A G 33348408 33348408 Baylor RYR1 6261 hgsc.bcm.edu GRCh37 19 38980821 38980821 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000359596.3:c.5920C>T p.Arg1974Trp p.R1974W ENST00000359596 1974 Cgg/Tgg 0 Missense_Mutation C 27 RYR1 SNP 19 C T 43672661 43672661 Baylor PMEL 6490 hgsc.bcm.edu GRCh37 12 56355196 56355196 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000449260.2:c.239C>G p.Ala80Gly p.A80G ENST00000449260 NM_001200054.1 80 gCa/gGa 0 Missense_Mutation G 46 SILV SNP 12 G C 54641463 54641463 Baylor TNS1 7145 hgsc.bcm.edu GRCh37 2 218712478 218712478 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000171887.4:c.2387A>G p.Tyr796Cys p.Y796C ENST00000171887 NM_022648.4 796 tAt/tGt 0 Missense_Mutation T 49 TNS1 SNP 2 T C 218420723 218420723 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578555 7578555 + splice_acceptor_variant Splice_Site SNP C C A novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.376-1G>T p.X126_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 20 TP53 SNP 17 C A 7519280 7519280 Baylor TSC1 7248 hgsc.bcm.edu GRCh37 9 135771988 135771988 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000298552.3:c.3129C>A p.Ser1043Arg p.S1043R ENST00000298552 NM_001162426.1 1043 agC/agA 0 Missense_Mutation G 38 TSC1 SNP 9 G T 134761809 134761809 Baylor UQCRB 7381 hgsc.bcm.edu GRCh37 8 97247742 97247742 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-1666-01 TCGA-09-1666-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000518406.1:c.17C>G p.Ala6Gly p.A6G ENST00000518406 NM_001254752.1 6 gCc/gGc 0 Missense_Mutation G 42 UQCRB SNP 8 G C 97316918 97316918 Baylor TP53 7157 genome.wustl.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C T rs28934576 Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.818G>A p.Arg273His p.R273H ENST00000269305 NM_001126112.2 273 cGt/cAt 0 Missense_Mutation C 19 TP53 SNP 17 T T 7517845 7517845 WashU TAS2R1 50834 genome.wustl.edu GRCh37 5 9629483 9629483 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382492.2:c.662G>T p.Gly221Val p.G221V ENST00000382492 NM_019599.2 221 gGt/gTt 0 Missense_Mutation C 18 TAS2R1 SNP 5 C A 9682483 9682483 WashU IRAK2 3656 genome.wustl.edu GRCh37 3 10254964 10254964 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000256458.4:c.602C>T p.Ala201Val p.A201V ENST00000256458 NM_001570.3 201 gCa/gTa 0 Missense_Mutation C 25 IRAK2 SNP 3 C T 10229964 10229964 WashU ADTRP 84830 genome.wustl.edu GRCh37 6 11723656 11723657 + missense_variant Missense_Mutation DNP GC GC AT novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 GC GC GC AT GC GC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000229583.5:c.637_638delinsAT p.Ala213Ile p.A213I ENST00000229583 NM_001143948.1 213 GCt/ATt 0 Missense GC 34 C6orf105 DNP 6 GC AT 11831643 11831642 WashU MAN2B1 4125 genome.wustl.edu GRCh37 19 12775790 12775790 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000456935.2:c.446A>T p.Glu149Val p.E149V ENST00000456935 NM_000528.3 149 gAg/gTg 0 Missense_Mutation T 54 MAN2B1 SNP 19 T A 12636790 12636790 WashU OR7C1 26664 genome.wustl.edu GRCh37 19 14910239 14910239 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000248073.2:c.710C>T p.Ala237Val p.A237V ENST00000248073 NM_198944.1 237 gCg/gTg 0 Missense_Mutation G 38 OR7C1 SNP 19 G A 14771239 14771239 WashU NPIPP1 genome.wustl.edu GRCh37 16 15208329 15208329 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000448014.2:n.2117G>A *706* ENST00000448014 0 Missense_Mutation C 25 uc002ddh.1 SNP 16 C T 15115830 15115830 WashU ZNF624 57547 genome.wustl.edu GRCh37 17 16525650 16525650 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311331.7:c.2550C>T p.Ser850= p.S850= ENST00000311331 NM_020787.3 850 agC/agT 0 Silent G 42 ZNF624 SNP 17 G A 16466375 16466375 WashU JAK3 3718 genome.wustl.edu GRCh37 19 17937626 17937626 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000458235.1:c.3301G>A p.Gly1101Arg p.G1101R ENST00000458235 NM_000215.3 1101 Gga/Aga 0 Missense_Mutation C 23 JAK3 SNP 19 C T 17798626 17798626 WashU TXNRD2 10587 genome.wustl.edu GRCh37 22 19902798 19902798 + missense_variant,splice_region_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400521.1:c.530T>A p.Ile177Asn p.I177N ENST00000400521 NM_006440.3 177 aTt/aAt 0 Missense_Mutation A 4 TXNRD2 SNP 22 A T 18282798 18282798 WashU RP11-2F9.3 genome.wustl.edu GRCh37 15 22440472 22440472 + non_coding_transcript_exon_variant RNA SNP C C G novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000460876.2:n.377G>C *126* ENST00000460876 0 Missense_Mutation C 24 LOC388076 SNP 15 C G 19941836 19941836 WashU ACSM2B 348158 genome.wustl.edu GRCh37 16 20554276 20554276 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329697.6:c.1469A>C p.Glu490Ala p.E490A ENST00000329697 NM_001105069.1 490 gAg/gCg 0 Missense_Mutation T 54 ACSM2B SNP 16 T G 20461777 20461777 WashU LDHB 3945 genome.wustl.edu GRCh37 12 21796909 21796909 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396076.1:c.381G>C p.Lys127Asn p.K127N ENST00000396076 NM_001174097.1 127 aaG/aaC 0 Missense_Mutation C 20 LDHB SNP 12 C G 21688176 21688176 WashU SPOCD1 90853 genome.wustl.edu GRCh37 1 32280492 32280492 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360482.2:c.443C>A p.Ala148Asp p.A148D ENST00000360482 NM_144569.4 148 gCc/gAc 0 Missense_Mutation G 42 SPOCD1 SNP 1 G T 32053079 32053079 WashU TRPC4 7223 genome.wustl.edu GRCh37 13 38225513 38225513 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379681.3:c.1968C>G p.Pro656= p.P656= ENST00000379681 NM_001135955.1 656 ccC/ccG 0 Silent G 35 TRPC4 SNP 13 C C 37123513 37123513 WashU YBX1 4904 genome.wustl.edu GRCh37 1 43162857 43162857 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321358.7:c.664G>C p.Asp222His p.D222H ENST00000321358 NM_004559.3 222 Gac/Cac 0 Missense_Mutation G 45 YBX1 SNP 1 G C 42935444 42935444 WashU RAD54L 8438 genome.wustl.edu GRCh37 1 46743829 46743829 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371975.4:c.2119A>G p.Asn707Asp p.N707D ENST00000371975 NM_003579.3 707 Aac/Gac 0 Missense_Mutation A 9 RAD54L SNP 1 A G 46516416 46516416 WashU MEX3C 51320 genome.wustl.edu GRCh37 18 48703666 48703666 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000406189.3:c.1035A>C p.Lys345Asn p.K345N ENST00000406189 NM_016626.4 345 aaA/aaC 0 Missense_Mutation T 56 MEX3C SNP 18 T G 46957664 46957664 WashU CYP4X1 260293 genome.wustl.edu GRCh37 1 47501767 47501767 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371901.3:c.699C>G p.His233Gln p.H233Q ENST00000371901 NM_178033.1 233 caC/caG 0 Missense_Mutation C 17 CYP4X1 SNP 1 C G 47274354 47274354 WashU PKD1L1 168507 genome.wustl.edu GRCh37 7 47886536 47886536 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000289672.2:c.5094G>A p.Glu1698= p.E1698= ENST00000289672 NM_138295.3 1698 gaG/gaA 0 Silent C 20 PKD1L1 SNP 7 C T 47853061 47853061 WashU OR4A21P genome.wustl.edu GRCh37 11 55259392 55259392 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000532759.1:n.765G>T *255* ENST00000532759 0 Missense_Mutation G 48 ENSG00000181943 SNP 11 G T 55015968 55015968 WashU OR8K3 219473 genome.wustl.edu GRCh37 11 56086256 56086256 + synonymous_variant Silent SNP A A T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312711.1:c.474A>T p.Leu158= p.L158= ENST00000312711 NM_001005202.1 158 ctA/ctT 0 Silent A 15 OR8K3 SNP 11 A T 55842832 55842832 WashU OR5AK3P 81228 genome.wustl.edu GRCh37 11 56738971 56738971 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000527486.1:n.647T>C *216* ENST00000527486 0 Silent T 49 OR5AK3P SNP 11 T C 56495547 56495547 WashU SMTNL1 219537 genome.wustl.edu GRCh37 11 57310464 57310464 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000457912.1:c.403G>T p.Glu135Ter p.E135* ENST00000457912 135 Gag/Tag 0 Nonsense_Mutation G 33 SMTNL1 SNP 11 G T 57067040 57067040 WashU PHF3 23469 genome.wustl.edu GRCh37 6 64389952 64389952 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262043.3:c.296A>G p.Asn99Ser p.N99S ENST00000262043 99 aAt/aGt 0 Missense_Mutation A 4 PHF3 SNP 6 G G 64447911 64447911 WashU DLG2 1740 genome.wustl.edu GRCh37 11 83180390 83180390 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376104.2:c.2473G>A p.Glu825Lys p.E825K ENST00000376104 NM_001142699.1 825 Gag/Aag 0 Missense_Mutation C 31 DLG2 SNP 11 C T 82858038 82858038 WashU SEMA3D 223117 genome.wustl.edu GRCh37 7 84644478 84644478 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000284136.6:c.1600T>C p.Cys534Arg p.C534R ENST00000284136 NM_152754.2 534 Tgc/Cgc 0 Missense_Mutation A 8 SEMA3D SNP 7 A G 84482414 84482414 WashU COL24A1 255631 genome.wustl.edu GRCh37 1 86334224 86334224 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370571.2:c.3278G>A p.Arg1093Lys p.R1093K ENST00000370571 NM_152890.5 1093 aGa/aAa 0 Missense_Mutation C 32 COL24A1 SNP 1 C T 86106812 86106812 WashU NTRK3 4916 genome.wustl.edu GRCh37 15 88420205 88420205 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360948.2:c.2481G>T p.Leu827Phe p.L827F ENST00000360948 NM_001012338.2 827 ttG/ttT 0 Missense_Mutation C 21 NTRK3 SNP 15 C A 86221209 86221209 WashU GPR128 84873 genome.wustl.edu GRCh37 3 100373846 100373846 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273352.3:c.1547C>A p.Thr516Lys p.T516K ENST00000273352 NM_032787.2 516 aCa/aAa 0 Missense_Mutation C 17 GPR128 SNP 3 C A 101856536 101856536 WashU SORCS3 22986 genome.wustl.edu GRCh37 10 106982968 106982968 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369701.3:c.2829G>T p.Gly943= p.G943= ENST00000369701 NM_014978.1 943 ggG/ggT 0 Silent G 41 SORCS3 SNP 10 G T 106972958 106972958 WashU IRS4 8471 genome.wustl.edu GRCh37 X 107976663 107976663 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372129.2:c.2912C>T p.Pro971Leu p.P971L ENST00000372129 NM_003604.2 971 cCa/cTa 0 Missense_Mutation G 47 IRS4 SNP 23 G A 107863319 107863319 WashU TRPS1 7227 genome.wustl.edu GRCh37 8 116426774 116426774 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395715.3:c.3362C>G p.Ala1121Gly p.A1121G ENST00000395715 NM_014112.2 1121 gCt/gGt 0 Missense_Mutation G 34 TRPS1 SNP 8 G C 116495950 116495950 WashU ZCCHC8 55596 genome.wustl.edu GRCh37 12 122966491 122966491 + splice_donor_variant Splice_Site SNP C C G novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336229.4:c.875+1G>C p.X292_splice ENST00000336229 NM_017612.3 0 Splice_Site_SNP C 18 ZCCHC8 SNP 12 C G 121532444 121532444 WashU AASS 10157 genome.wustl.edu GRCh37 7 121758477 121758477 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393376.1:c.571A>C p.Ser191Arg p.S191R ENST00000393376 191 Agc/Cgc 0 Missense_Mutation T 53 AASS SNP 7 T G 121545713 121545713 WashU TENM1 10178 genome.wustl.edu GRCh37 X 123785913 123785913 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422452.2:c.1430A>G p.Asp477Gly p.D477G ENST00000422452 NM_001163279.1 477 gAt/gGt 0 Missense_Mutation T 50 ODZ1 SNP 23 T C 123613594 123613594 WashU RABEPK 10244 genome.wustl.edu GRCh37 9 127996047 127996047 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373538.3:c.907T>C p.Trp303Arg p.W303R ENST00000373538 NM_005833.3 303 Tgg/Cgg 0 Missense_Mutation T 51 RABEPK SNP 9 T C 127035868 127035868 WashU KCNQ3 3786 genome.wustl.edu GRCh37 8 133196524 133196524 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000388996.4:c.568C>T p.Arg190Ter p.R190* ENST00000388996 NM_004519.3 190 Cga/Tga 0 Nonsense_Mutation G 39 KCNQ3 SNP 8 G A 133265706 133265706 WashU VAV2 7410 genome.wustl.edu GRCh37 9 136656967 136656967 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371850.3:c.1126G>T p.Val376Phe p.V376F ENST00000371850 NM_001134398.1 376 Gtt/Ttt 0 Missense_Mutation C 20 VAV2 SNP 9 C A 135646788 135646788 WashU LRP1B 53353 genome.wustl.edu GRCh37 2 141214104 141214104 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389484.3:c.9883A>T p.Thr3295Ser p.T3295S ENST00000389484 NM_018557.2 3295 Acc/Tcc 0 Missense_Mutation T 60 LRP1B SNP 2 T A 140930574 140930574 WashU LRP1B 53353 genome.wustl.edu GRCh37 2 141459320 141459320 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389484.3:c.6397G>C p.Val2133Leu p.V2133L ENST00000389484 NM_018557.2 2133 Gtt/Ctt 0 Missense_Mutation C 18 LRP1B SNP 2 C G 141175790 141175790 WashU IGSF9 57549 genome.wustl.edu GRCh37 1 159912756 159912756 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368094.1:c.244G>A p.Val82Met p.V82M ENST00000368094 NM_001135050.1 82 Gtg/Atg 0 Missense_Mutation C 19 IGSF9 SNP 1 C T 158179380 158179380 WashU KCNJ10 3766 genome.wustl.edu GRCh37 1 160011339 160011339 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368089.3:c.984C>A p.Ser328Arg p.S328R ENST00000368089 NM_002241.4 328 agC/agA 0 Missense_Mutation G 42 KCNJ10 SNP 1 G T 158277963 158277963 WashU ZBBX 79740 genome.wustl.edu GRCh37 3 167016202 167016202 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000455345.2:c.1770A>G p.Gln590= p.Q590= ENST00000455345 590 caA/caG 0 Silent T 52 ZBBX SNP 3 T C 168498896 168498896 WashU HAT1 8520 genome.wustl.edu GRCh37 2 172844218 172844218 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264108.4:c.1034C>T p.Ala345Val p.A345V ENST00000264108 NM_003642.3 345 gCc/gTc 0 Missense_Mutation C 26 HAT1 SNP 2 C T 172552464 172552464 WashU MAP3K13 9175 genome.wustl.edu GRCh37 3 185165674 185165674 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265026.3:c.949G>T p.Val317Phe p.V317F ENST00000265026 NM_004721.4 317 Gtc/Ttc 0 Missense_Mutation G 44 MAP3K13 SNP 3 G T 186648368 186648368 WashU PDLIM3 27295 genome.wustl.edu GRCh37 4 186427686 186427686 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000284770.5:c.783C>T p.Asp261= p.D261= ENST00000284770 NM_014476.5 261 gaC/gaT 0 Silent G 40 PDLIM3 SNP 4 A A 186664680 186664680 WashU CDK5R2 8941 genome.wustl.edu GRCh37 2 219825429 219825429 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302625.4:c.887G>T p.Arg296Leu p.R296L ENST00000302625 NM_003936.4 296 cGc/cTc 0 Missense_Mutation G 38 CDK5R2 SNP 2 G T 219533673 219533673 WashU PSMD1 5707 genome.wustl.edu GRCh37 2 232026116 232026116 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308696.6:c.2281G>T p.Val761Phe p.V761F ENST00000308696 NM_002807.3 761 Gtt/Ttt 0 Missense_Mutation G 44 PSMD1 SNP 2 G T 231734360 231734360 WashU CHD7 55636 genome.wustl.edu GRCh37 8 61750655 61750655 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000423902.2:c.4374A>G p.Lys1458= p.K1458= ENST00000423902 NM_017780.3 1458 aaA/aaG 0 Silent A 3 CHD7 SNP 8 A G 61913209 61913209 WashU ZMYM6 9204 genome.wustl.edu GRCh37 1 35454374 35454374 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357182.4:c.2309T>G p.Ile770Ser p.I770S ENST00000357182 NM_007167.3 770 aTt/aGt 0 Missense_Mutation A 4 ZMYM6 SNP 1 A C 35226961 35226961 WashU H3F3AP4 440926 genome.wustl.edu GRCh37 2 175584699 175584699 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316450.4:n.195G>A *65* ENST00000316450 0 Missense_Mutation G 42 ENSG00000196285 SNP 2 G A 175292945 175292945 WashU AC027612.6 genome.wustl.edu GRCh37 2 91843530 91843530 + splice_acceptor_variant,non_coding_transcript_variant Splice_Site SNP T T G novel Unknown TCGA-25-1315-01 TCGA-25-1315-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000544283.1:n.174-2A>C p.X58_splice ENST00000544283 0 Splice_Site_SNP T 55 ENSG00000162685 SNP 2 T G 91207257 91207257 WashU DENND4B 9909 genome.wustl.edu GRCh37 1 153903542 153903543 + splice_region_variant,intron_variant Splice_Region INS - - G Unknown TCGA-25-1315-01 TCGA-25-1315-10 - - - G - - Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000361217.4:c.3997-3dup p.X1333_splice ENST00000361217 NM_014856.2 0 Splice_Site_Ins - 55 DENND4B INS 1 - G 152170167 152170166 WashU MAP3K7CL 56911 genome.wustl.edu GRCh37 21 30547115 30547115 + frameshift_variant Frame_Shift_Del DEL A A - Unknown TCGA-25-1315-01 TCGA-25-1315-10 A A A - A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000399947.2:c.631del p.Thr211ArgfsTer7 p.T211Rfs*7 ENST00000399947 NM_020152.2 211 Acg/cg 0 Frame_Shift_Del A 10 C21orf7 DEL 21 A - 29468986 29468986 WashU ACAD9 28976 genome.wustl.edu GRCh37 3 128625093 128625104 + splice_donor_variant,intron_variant Splice_Site DEL GTGAGTGGCCCC GTGAGTGGCCCC - Unknown TCGA-25-1315-01 TCGA-25-1315-10 GTGAGTGGCCCC GTGAGTGGCCCC GTGAGTGGCCCC - GTGAGTGGCCCC GTGAGTGGCCCC Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000308982.7:c.1278+2_1278+13del p.X426_splice ENST00000308982 NM_014049.4 0 Splice_Site_Del GTGAGTGGCCCC 44 ACAD9 DEL 3 GTGAGTGGCCCC - 130107794 130107783 WashU ECE1 1889 broad.mit.edu GRCh37 1 21599260 21599260 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000374893.6:c.425G>A p.Gly142Asp p.G142D ENST00000374893 NM_001397.2 142 gGc/gAc 0 Missense_Mutation C 26 ECE1 SNP 1 C T 21471847 21471847 Broad MACF1 23499 broad.mit.edu GRCh37 1 39853854 39853854 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000545844.1:c.9154A>T p.Met3052Leu p.M3052L ENST00000545844 3052 Atg/Ttg 0 Missense_Mutation A 12 MACF1 SNP 1 A T 39626441 39626441 Broad SLC6A9 6536 broad.mit.edu GRCh37 1 44463584 44463584 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000360584.2:c.1869C>T p.Cys623= p.C623= ENST00000360584 NM_201649.3 623 tgC/tgT 0 Silent G 46 SLC6A9 SNP 1 G A 44236171 44236171 Broad MROH7 374977 broad.mit.edu GRCh37 1 55172174 55172174 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000414150.2:c.3631C>T p.Arg1211Trp p.R1211W ENST00000414150 1211 Cgg/Tgg 0 Missense_Mutation C 19 C1orf175 SNP 1 C T 54944762 54944762 Broad WDR78 79819 broad.mit.edu GRCh37 1 67390460 67390460 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000371026.3:c.55T>A p.Trp19Arg p.W19R ENST00000371026 NM_024763.4 19 Tgg/Agg 0 Missense_Mutation A 5 WDR78 SNP 1 A T 67163048 67163048 Broad SARS 6301 broad.mit.edu GRCh37 1 109779110 109779110 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000234677.2:c.1197G>A p.Thr399= p.T399= ENST00000234677 NM_006513.3 399 acG/acA 0 Silent G 39 SARS SNP 1 G A 109580633 109580633 Broad ACP6 51205 broad.mit.edu GRCh37 1 147126383 147126383 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000369238.6:c.706A>G p.Lys236Glu p.K236E ENST00000369238 NM_016361.4 236 Aag/Gag 0 Missense_Mutation T 62 ACP6 SNP 1 T C 145593007 145593007 Broad CA14 23632 broad.mit.edu GRCh37 1 150235703 150235703 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000369111.4:c.726A>C p.Glu242Asp p.E242D ENST00000369111 NM_012113.1 242 gaA/gaC 0 Missense_Mutation A 1 CA14 SNP 1 A C 148502327 148502327 Broad INTS3 65123 broad.mit.edu GRCh37 1 153724880 153724880 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000318967.2:c.855C>T p.Phe285= p.F285= ENST00000318967 NM_023015.3 285 ttC/ttT 0 Silent C 29 INTS3 SNP 1 C T 151991504 151991504 Broad RUSC1 23623 broad.mit.edu GRCh37 1 155294895 155294895 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000368352.5:c.1459C>G p.Leu487Val p.L487V ENST00000368352 NM_001105203.1 487 Ctt/Gtt 0 Missense_Mutation C 32 RUSC1 SNP 1 C G 153561519 153561519 Broad HKDC1 80201 broad.mit.edu GRCh37 10 71025400 71025400 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000354624.5:c.2432C>G p.Thr811Arg p.T811R ENST00000354624 NM_025130.3 811 aCg/aGg 0 Missense_Mutation C 19 HKDC1 SNP 10 C G 70695406 70695406 Broad TIAL1 7073 broad.mit.edu GRCh37 10 121341479 121341479 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000369093.2:c.377C>T p.Thr126Ile p.T126I ENST00000369093 NM_001033925.1 126 aCa/aTa 0 Missense_Mutation G 48 TIAL1 SNP 10 G A 121331469 121331469 Broad TACC2 10579 broad.mit.edu GRCh37 10 124009142 124009142 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000369005.1:c.8744T>C p.Leu2915Pro p.L2915P ENST00000369005 NM_206862.2 2915 cTg/cCg 0 Missense_Mutation T 55 TACC2 SNP 10 T C 123999132 123999132 Broad CARS 833 broad.mit.edu GRCh37 11 3023240 3023240 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000380525.4:c.2321T>G p.Phe774Cys p.F774C ENST00000380525 NM_001194997.1 774 tTc/tGc 0 Missense_Mutation A 9 CARS SNP 11 A C 2979816 2979816 Broad NAV2 89797 broad.mit.edu GRCh37 11 19970554 19970554 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000396087.3:c.2642T>A p.Met881Lys p.M881K ENST00000396087 NM_001244963.1 881 aTg/aAg 0 Missense_Mutation T 51 NAV2 SNP 11 T A 19927130 19927130 Broad EEF1G 1937 broad.mit.edu GRCh37 11 62327302 62327302 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000329251.4:c.1163C>A p.Pro388Gln p.P388Q ENST00000329251 NM_001404.4 388 cCa/cAa 0 Missense_Mutation G 47 EEF1G SNP 11 G T 62083878 62083878 Broad NEU3 10825 broad.mit.edu GRCh37 11 74717460 74717460 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000294064.4:c.1309C>T p.His437Tyr p.H437Y ENST00000294064 NM_006656.5 437 Cac/Tac 0 Missense_Mutation C 17 NEU3 SNP 11 C T 74395108 74395108 Broad FAT3 120114 broad.mit.edu GRCh37 11 92534032 92534032 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000298047.6:c.7853T>G p.Leu2618Trp p.L2618W ENST00000298047 2618 tTg/tGg 0 Missense_Mutation T 63 FAT3 SNP 11 T G 92173680 92173680 Broad NPAT 4863 broad.mit.edu GRCh37 11 108044483 108044483 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000278612.8:c.1228C>G p.Gln410Glu p.Q410E ENST00000278612 NM_002519.2 410 Caa/Gaa 0 Missense_Mutation G 48 NPAT SNP 11 G C 107549693 107549693 Broad OR8G2P 26492 broad.mit.edu GRCh37 11 124096009 124096009 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000366149.3:n.573C>A *191* ENST00000366149 0 Missense_Mutation C 25 OR8G2 SNP 11 C A 123601219 123601219 Broad ALG10B 144245 broad.mit.edu GRCh37 12 38714340 38714340 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000308742.4:c.747G>A p.Met249Ile p.M249I ENST00000308742 NM_001013620.3 249 atG/atA 0 Missense_Mutation G 46 ALG10B SNP 12 G A 37000607 37000607 Broad KRT4 3851 broad.mit.edu GRCh37 12 53201603 53201603 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000551956.1:c.1171G>T p.Glu391Ter p.E391* ENST00000551956 391 Gag/Tag 0 Nonsense_Mutation C 29 KRT4 SNP 12 C A 51487870 51487870 Broad DCTN2 10540 broad.mit.edu GRCh37 12 57926548 57926548 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000434715.3:c.835G>A p.Ala279Thr p.A279T ENST00000434715 NM_006400.4 279 Gca/Aca 0 Missense_Mutation C 25 DCTN2 SNP 12 C T 56212815 56212815 Broad SBNO1 55206 broad.mit.edu GRCh37 12 123789158 123789159 + missense_variant Missense_Mutation DNP AA AA TT novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000420886.2:c.3738_3739inv p.Tyr1247Asn p.Y1247N ENST00000420886 NM_001167856.1 1246 atTTat/atAAat 0 Missense_Mutation AA 13 SBNO1 DNP 12 AA TT 122355112 122355111 Broad CCNA1 8900 broad.mit.edu GRCh37 13 37015268 37015268 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000255465.4:c.1112T>G p.Leu371Arg p.L371R ENST00000255465 371 cTg/cGg 0 Missense_Mutation T 55 CCNA1 SNP 13 T G 35913268 35913268 Broad LPAR6 10161 broad.mit.edu GRCh37 13 48986285 48986285 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000378434.4:c.275C>T p.Ser92Phe p.S92F ENST00000378434 NM_005767.5 92 tCt/tTt 0 Missense_Mutation G 33 LPAR6 SNP 13 G A 47884286 47884286 Broad EBPL 84650 broad.mit.edu GRCh37 13 50265536 50265537 + missense_variant Missense_Mutation DNP CC CC AG novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000242827.6:c.24_25delinsCT p.Ala9Ser p.A9S ENST00000242827 NM_032565.4 8 ggGGcc/ggCTcc 0 Missense_Mutation CC 26 EBPL DNP 13 CC AG 49163538 49163537 Broad ZFYVE26 23503 broad.mit.edu GRCh37 14 68249587 68249587 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000347230.4:c.4282C>A p.Arg1428= p.R1428= ENST00000347230 NM_015346.3 1428 Cgg/Agg 0 Silent G 39 ZFYVE26 SNP 14 G T 67319340 67319340 Broad MYO5A 4644 broad.mit.edu GRCh37 15 52611426 52611426 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000399231.3:c.4990A>G p.Ile1664Val p.I1664V ENST00000399231 NM_000259.3 1664 Atc/Gtc 0 Missense_Mutation T 51 MYO5A SNP 15 T C 50398718 50398718 Broad HERC1 8925 broad.mit.edu GRCh37 15 64005761 64005761 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000443617.2:c.4254T>C p.Pro1418= p.P1418= ENST00000443617 NM_003922.3 1418 ccT/ccC 0 Silent A 11 HERC1 SNP 15 A G 61792814 61792814 Broad AXIN1 8312 broad.mit.edu GRCh37 16 343556 343556 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000262320.3:c.2118G>A p.Gln706= p.Q706= ENST00000262320 NM_003502.3 706 caG/caA 0 Silent C 28 AXIN1 SNP 16 C T 283557 283557 Broad NUBP1 4682 broad.mit.edu GRCh37 16 10850620 10850620 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000283027.5:c.434G>C p.Arg145Thr p.R145T ENST00000283027 NM_002484.3 145 aGg/aCg 0 Missense_Mutation G 35 NUBP1 SNP 16 G C 10758121 10758121 Broad CTCF 10664 broad.mit.edu GRCh37 16 67663345 67663345 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000264010.4:c.1746C>T p.Gly582= p.G582= ENST00000264010 NM_006565.3 582 ggC/ggT 0 Silent C 27 CTCF SNP 16 C T 66220846 66220846 Broad EDC4 23644 broad.mit.edu GRCh37 16 67909991 67909991 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000358933.5:c.226G>A p.Glu76Lys p.E76K ENST00000358933 NM_014329.4 76 Gag/Aag 0 Missense_Mutation G 33 EDC4 SNP 16 G A 66467492 66467492 Broad HS3ST3A1 9955 broad.mit.edu GRCh37 17 13400029 13400029 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000284110.1:c.706A>C p.Thr236Pro p.T236P ENST00000284110 NM_006042.1 236 Acc/Ccc 0 Missense_Mutation T 59 HS3ST3A1 SNP 17 T G 13340754 13340754 Broad ZNF287 57336 broad.mit.edu GRCh37 17 16455544 16455544 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000395824.1:c.1912C>T p.His638Tyr p.H638Y ENST00000395824 638 Cat/Tat 0 Missense_Mutation G 48 ZNF287 SNP 17 G A 16396269 16396269 Broad MPRIP 23164 broad.mit.edu GRCh37 17 17061836 17061836 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000395811.5:c.1566G>T p.Pro522= p.P522= ENST00000395811 NM_015134.3 522 ccG/ccT 0 Silent G 39 MPRIP SNP 17 G T 17002561 17002561 Broad MPRIP 23164 broad.mit.edu GRCh37 17 17061839 17061840 + missense_variant Missense_Mutation DNP CC CC GG novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000395811.5:c.1569_1570inv p.Asp523_Pro524delinsGluAla p.D523_P524delinsEA ENST00000395811 NM_015134.3 523 gaCCct/gaGGct 0 Missense_Mutation CC 18 MPRIP DNP 17 CC GG 17002565 17002564 Broad UBTF 7343 broad.mit.edu GRCh37 17 42287737 42287737 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000302904.4:c.1464T>C p.Ala488= p.A488= ENST00000302904 488 gcT/gcC 0 Silent A 7 UBTF SNP 17 A G 39643263 39643263 Broad MYCBPAP 84073 broad.mit.edu GRCh37 17 48596440 48596440 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000323776.5:c.887G>C p.Arg296Pro p.R296P ENST00000323776 NM_032133.4 296 cGt/cCt 0 Missense_Mutation G 40 MYCBPAP SNP 17 G C 45951439 45951439 Broad SGSH 6448 broad.mit.edu GRCh37 17 78184775 78184775 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000326317.6:c.985C>T p.Pro329Ser p.P329S ENST00000326317 NM_000199.3 329 Ccg/Tcg 0 Missense_Mutation G 43 SGSH SNP 17 G A 75799370 75799370 Broad TJP3 27134 broad.mit.edu GRCh37 19 3735866 3735866 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000589378.1:c.1088-1G>T p.X363_splice ENST00000589378 NM_001267561.1 0 Splice_Site_SNP G 33 TJP3 SNP 19 G T 3686866 3686866 Broad MUC16 94025 broad.mit.edu GRCh37 19 9086617 9086617 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000397910.4:c.5198C>A p.Ser1733Tyr p.S1733Y ENST00000397910 NM_024690.2 1733 tCc/tAc 0 Missense_Mutation G 41 MUC16 SNP 19 G T 8947617 8947617 Broad ZNF560 147741 broad.mit.edu GRCh37 19 9581068 9581068 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000301480.4:c.448G>T p.Gly150Cys p.G150C ENST00000301480 NM_152476.2 150 Ggt/Tgt 0 Missense_Mutation C 24 ZNF560 SNP 19 C A 9442068 9442068 Broad DNMT1 1786 broad.mit.edu GRCh37 19 10265610 10265610 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000340748.4:c.1567A>G p.Thr523Ala p.T523A ENST00000340748 523 Acc/Gcc 0 Missense_Mutation T 58 DNMT1 SNP 19 T C 10126610 10126610 Broad KEAP1 9817 broad.mit.edu GRCh37 19 10610575 10610575 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000171111.5:c.135C>A p.Ser45= p.S45= ENST00000171111 NM_203500.1 45 tcC/tcA 0 Silent G 43 KEAP1 SNP 19 G T 10471575 10471575 Broad POU2F2 5452 broad.mit.edu GRCh37 19 42599765 42599765 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000526816.2:c.886C>T p.Arg296Trp p.R296W ENST00000526816 296 Cgg/Tgg 0 Missense_Mutation G 39 POU2F2 SNP 19 G A 47291605 47291605 Broad ZNF135 7694 broad.mit.edu GRCh37 19 58579392 58579392 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000401053.4:c.1612C>T p.Arg538Ter p.R538* ENST00000401053 NM_001164529.1 538 Cga/Tga 0 Nonsense_Mutation C 27 ZNF135 SNP 19 C T 63271204 63271204 Broad CLHC1 130162 broad.mit.edu GRCh37 2 55439841 55439841 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000401408.1:c.467C>G p.Thr156Ser p.T156S ENST00000401408 NM_152385.2 156 aCt/aGt 0 Missense_Mutation G 36 C2orf63 SNP 2 G C 55293345 55293345 Broad MAP3K19 80122 broad.mit.edu GRCh37 2 135745384 135745384 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000375845.3:c.1058G>T p.Gly353Val p.G353V ENST00000375845 NM_025052.3 353 gGt/gTt 0 Missense_Mutation C 18 YSK4 SNP 2 C A 135461854 135461854 Broad TTN 7273 broad.mit.edu GRCh37 2 179634580 179634580 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.8728G>T p.Val2910Phe p.V2910F ENST00000589042 NM_001267550.1 2910 Gtc/Ttc 0 Missense_Mutation C 17 TTN SNP 2 C A 179342825 179342825 Broad TTLL4 9654 broad.mit.edu GRCh37 2 219613996 219613996 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000392102.1:c.2621G>C p.Ser874Thr p.S874T ENST00000392102 NM_014640.4 874 aGc/aCc 0 Missense_Mutation G 34 TTLL4 SNP 2 G C 219322240 219322240 Broad PPP1R7 5510 broad.mit.edu GRCh37 2 242099843 242099843 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000234038.6:c.531T>C p.Ser177= p.S177= ENST00000234038 NM_002712.1 177 agT/agC 0 Silent T 57 PPP1R7 SNP 2 T C 241748516 241748516 Broad TAF4 6874 broad.mit.edu GRCh37 20 60551331 60551331 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000252996.4:c.3151A>G p.Thr1051Ala p.T1051A ENST00000252996 NM_003185.3 1051 Acg/Gcg 0 Missense_Mutation T 59 TAF4 SNP 20 T C 59984726 59984726 Broad PRPF6 24148 broad.mit.edu GRCh37 20 62632582 62632582 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000266079.4:c.1176T>A p.Val392= p.V392= ENST00000266079 NM_012469.3 392 gtT/gtA 0 Silent T 62 PRPF6 SNP 20 T A 62103026 62103026 Broad C21orf91 54149 broad.mit.edu GRCh37 21 19169163 19169163 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000284881.4:c.400C>G p.Gln134Glu p.Q134E ENST00000284881 NM_001100420.1 134 Cag/Gag 0 Missense_Mutation G 48 C21orf91 SNP 21 G C 18091034 18091034 Broad ETS2 2114 broad.mit.edu GRCh37 21 40186790 40186790 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000360214.3:c.390G>A p.Gln130= p.Q130= ENST00000360214 NM_001256295.1 130 caG/caA 0 Silent G 33 ETS2 SNP 21 G A 39108660 39108660 Broad UBASH3A 53347 broad.mit.edu GRCh37 21 43863427 43863427 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000319294.6:c.1637C>T p.Ala546Val p.A546V ENST00000319294 NM_018961.3 546 gCg/gTg 0 Missense_Mutation C 27 UBASH3A SNP 21 C T 42736496 42736496 Broad EDEM1 9695 broad.mit.edu GRCh37 3 5249779 5249779 + missense_variant,splice_region_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000256497.4:c.1340T>G p.Val447Gly p.V447G ENST00000256497 NM_014674.2 447 gTg/gGg 0 Missense_Mutation T 59 EDEM1 SNP 3 T G 5224779 5224779 Broad MYRIP 25924 broad.mit.edu GRCh37 3 40085601 40085601 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000302541.6:c.171G>T p.Gln57His p.Q57H ENST00000302541 NM_015460.2 57 caG/caT 0 Missense_Mutation G 34 MYRIP SNP 3 G T 40060605 40060605 Broad DNAH12 201625 broad.mit.edu GRCh37 3 57509542 57509542 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000311202.6:c.240T>C p.Asp80= p.D80= ENST00000311202 NM_198564.3 80 gaT/gaC 0 Silent A 4 DNAH12 SNP 3 A G 57484582 57484582 Broad LRIG1 26018 broad.mit.edu GRCh37 3 66431105 66431105 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000273261.3:c.2951C>A p.Ala984Asp p.A984D ENST00000273261 NM_015541.2 984 gCc/gAc 0 Missense_Mutation G 42 LRIG1 SNP 3 G T 66513795 66513795 Broad LMOD3 56203 broad.mit.edu GRCh37 3 69158249 69158249 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000420581.2:c.1680G>A p.Ala560= p.A560= ENST00000420581 NM_198271.3 560 gcG/gcA 0 Silent C 19 LMOD3 SNP 3 C T 69240939 69240939 Broad NXPE3 91775 broad.mit.edu GRCh37 3 101540352 101540352 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000422132.1:c.1234A>G p.Ile412Val p.I412V ENST00000422132 412 Atc/Gtc 0 Missense_Mutation A 8 FAM55C SNP 3 A G 103023042 103023042 Broad PIK3CA 5290 broad.mit.edu GRCh37 3 178917653 178917653 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000263967.3:c.528A>G p.Glu176= p.E176= ENST00000263967 NM_006218.2 176 gaA/gaG 0 Silent A 4 PIK3CA SNP 3 A G 180400347 180400347 Broad TMEM44 93109 broad.mit.edu GRCh37 3 194336309 194336309 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000392432.2:c.1042G>T p.Glu348Ter p.E348* ENST00000392432 NM_001166305.1 348 Gaa/Taa 0 Nonsense_Mutation C 32 TMEM44 SNP 3 C A 195817598 195817598 Broad SULT1E1 6783 broad.mit.edu GRCh37 4 70713415 70713415 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000226444.3:c.591+1G>A p.X197_splice ENST00000226444 NM_005420.2 0 Splice_Site_SNP C 18 SULT1E1 SNP 4 C T 70748004 70748004 Broad TLL1 7092 broad.mit.edu GRCh37 4 166978377 166978377 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000061240.2:c.1762C>A p.Gln588Lys p.Q588K ENST00000061240 NM_012464.4 588 Cag/Aag 0 Missense_Mutation C 25 TLL1 SNP 4 C A 167197827 167197827 Broad GPBP1 65056 broad.mit.edu GRCh37 5 56527014 56527014 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000264779.6:c.298G>A p.Gly100Arg p.G100R ENST00000264779 NM_001127236.2 100 Gga/Aga 0 Missense_Mutation G 47 GPBP1 SNP 5 G A 56562771 56562771 Broad GPR98 84059 broad.mit.edu GRCh37 5 90106338 90106338 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000405460.2:c.15261A>G p.Glu5087= p.E5087= ENST00000405460 NM_032119.3 5087 gaA/gaG 0 Silent A 3 GPR98 SNP 5 A G 90142094 90142094 Broad PDLIM4 8572 broad.mit.edu GRCh37 5 131606621 131606621 + missense_variant Missense_Mutation SNP C C A rs62384133 Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000253754.3:c.341C>A p.Thr114Lys p.T114K ENST00000253754 NM_003687.3 114 aCa/aAa 0 Missense_Mutation C 17 PDLIM4 SNP 5 C A 131634520 131634520 Broad PCDHAC1 56135 broad.mit.edu GRCh37 5 140389306 140389306 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000253807.2:c.2676C>T p.Ser892= p.S892= ENST00000253807 NM_018898.3 892 tcC/tcT 0 Silent C 23 PCDHA1 SNP 5 C T 140369490 140369490 Broad CLINT1 9685 broad.mit.edu GRCh37 5 157233043 157233043 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000523908.1:c.773C>T p.Thr258Met p.T258M ENST00000523908 258 aCg/aTg 0 Missense_Mutation G 40 CLINT1 SNP 5 G A 157165621 157165621 Broad IRF4 3662 broad.mit.edu GRCh37 6 394886 394887 + missense_variant Missense_Mutation DNP GA GA TC novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000380956.4:c.282_283inv p.Lys94_Thr95delinsAsnPro p.K94_T95delinsNP ENST00000380956 NM_001195286.1 94 aaGAcg/aaTCcg 0 Missense_Mutation GA 33 IRF4 DNP 6 GA TC 339887 339886 Broad EXOC2 55770 broad.mit.edu GRCh37 6 572577 572577 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000230449.4:c.1386G>T p.Gln462His p.Q462H ENST00000230449 NM_018303.5 462 caG/caT 0 Missense_Mutation C 28 EXOC2 SNP 6 C A 517577 517577 Broad MYLK4 340156 broad.mit.edu GRCh37 6 2671581 2671581 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000274643.7:c.1121A>G p.Lys374Arg p.K374R ENST00000274643 NM_001012418.3 374 aAg/aGg 0 Missense_Mutation T 56 MYLK4 SNP 6 T C 2616580 2616580 Broad TXNDC5 81567 broad.mit.edu GRCh37 6 7889807 7889807 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000379757.4:c.740G>C p.Cys247Ser p.C247S ENST00000379757 NM_030810.3 247 tGt/tCt 0 Missense_Mutation C 17 TXNDC5 SNP 6 C G 7834806 7834806 Broad SPDEF 25803 broad.mit.edu GRCh37 6 34512143 34512143 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000374037.3:c.90G>T p.Lys30Asn p.K30N ENST00000374037 NM_012391.2 30 aaG/aaT 0 Missense_Mutation C 24 SPDEF SNP 6 C A 34620121 34620121 Broad TFAP2D 83741 broad.mit.edu GRCh37 6 50697018 50697018 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000008391.3:c.876G>C p.Leu292Phe p.L292F ENST00000008391 NM_172238.3 292 ttG/ttC 0 Missense_Mutation G 47 TFAP2D SNP 6 G C 50804977 50804977 Broad TINAG 27283 broad.mit.edu GRCh37 6 54214665 54214665 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000259782.4:c.1051T>G p.Cys351Gly p.C351G ENST00000259782 NM_014464.3 351 Tgt/Ggt 0 Missense_Mutation T 51 TINAG SNP 6 T G 54322624 54322624 Broad DGKB 1607 broad.mit.edu GRCh37 7 14647109 14647109 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000403951.2:c.1386A>G p.Leu462= p.L462= ENST00000403951 462 ctA/ctG 0 Silent T 49 DGKB SNP 7 T C 14613634 14613634 Broad TAF6 6878 broad.mit.edu GRCh37 7 99711307 99711307 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000437822.2:c.440A>C p.Lys147Thr p.K147T ENST00000437822 NM_001190415.1 147 aAg/aCg 0 Missense_Mutation T 56 TAF6 SNP 7 T G 99549243 99549243 Broad MUC17 140453 broad.mit.edu GRCh37 7 100680242 100680242 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000306151.4:c.5545C>G p.Pro1849Ala p.P1849A ENST00000306151 NM_001040105.1 1849 Cct/Gct 0 Missense_Mutation C 30 MUC17 SNP 7 C G 100466962 100466962 Broad SRPK2 6733 broad.mit.edu GRCh37 7 104783613 104783613 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000393651.3:c.978G>C p.Gln326His p.Q326H ENST00000393651 NM_182692.2 326 caG/caC 0 Missense_Mutation C 24 SRPK2 SNP 7 C G 104570849 104570849 Broad SSPO 23145 broad.mit.edu GRCh37 7 149528291 149528292 + non_coding_transcript_exon_variant RNA DNP GG GG TA novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000378016.2:n.15210_15211delinsTA *5070* ENST00000378016 0 Missense_Mutation GG 47 SSPO DNP 7 GG TA 149159225 149159224 Broad TUSC3 7991 broad.mit.edu GRCh37 8 15588173 15588173 + splice_acceptor_variant Splice_Site SNP A A G novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000503731.1:c.799-2A>G p.X267_splice ENST00000503731 NM_006765.3 0 Splice_Site_SNP A 15 TUSC3 SNP 8 A G 15632544 15632544 Broad STC1 6781 broad.mit.edu GRCh37 8 23702311 23702311 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000290271.2:c.716T>A p.Ile239Asn p.I239N ENST00000290271 NM_003155.2 239 aTc/aAc 0 Missense_Mutation A 12 STC1 SNP 8 A T 23758256 23758256 Broad SNTG1 54212 broad.mit.edu GRCh37 8 51363273 51363273 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000522124.1:c.347G>A p.Cys116Tyr p.C116Y ENST00000522124 NM_018967.2 116 tGt/tAt 0 Missense_Mutation G 48 SNTG1 SNP 8 G A 51525826 51525826 Broad CSMD3 114788 broad.mit.edu GRCh37 8 113418909 113418909 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000297405.5:c.5653A>T p.Arg1885Ter p.R1885* ENST00000297405 NM_198123.1 1885 Aga/Tga 0 Nonsense_Mutation T 56 CSMD3 SNP 8 T A 113488085 113488085 Broad COLEC10 10584 broad.mit.edu GRCh37 8 120118245 120118245 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000332843.2:c.649G>C p.Glu217Gln p.E217Q ENST00000332843 NM_006438.3 217 Gag/Cag 0 Missense_Mutation G 41 COLEC10 SNP 8 G C 120187426 120187426 Broad COL14A1 7373 broad.mit.edu GRCh37 8 121243733 121243733 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000297848.3:c.2225T>C p.Val742Ala p.V742A ENST00000297848 NM_021110.2 742 gTt/gCt 0 Missense_Mutation T 60 COL14A1 SNP 8 T C 121312914 121312914 Broad ZHX2 22882 broad.mit.edu GRCh37 8 123965552 123965552 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000314393.4:c.1802G>C p.Gly601Ala p.G601A ENST00000314393 NM_014943.3 601 gGc/gCc 0 Missense_Mutation G 42 ZHX2 SNP 8 G C 124034733 124034733 Broad PTK2 5747 broad.mit.edu GRCh37 8 141771320 141771320 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000340930.3:c.1276C>T p.Arg426Ter p.R426* ENST00000340930 NM_001199649.1 426 Cga/Tga 0 Nonsense_Mutation G 40 PTK2 SNP 8 G A 141840502 141840502 Broad CNTFR 1271 broad.mit.edu GRCh37 9 34557627 34557627 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000378980.3:c.501C>A p.Arg167= p.R167= ENST00000378980 NM_147164.2 167 cgC/cgA 0 Silent G 34 CNTFR SNP 9 G T 34547627 34547627 Broad SUSD3 203328 broad.mit.edu GRCh37 9 95838102 95838102 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000375472.3:c.125C>A p.Thr42Asn p.T42N ENST00000375472 NM_145006.2 42 aCc/aAc 0 Missense_Mutation C 18 SUSD3 SNP 9 C A 94877923 94877923 Broad DFNB31 25861 broad.mit.edu GRCh37 9 117165592 117165592 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000362057.3:c.2446C>T p.Leu816= p.L816= ENST00000362057 NM_001173425.1 816 Ctg/Ttg 0 Silent G 33 DFNB31 SNP 9 G A 116205413 116205413 Broad LAMC3 10319 broad.mit.edu GRCh37 9 133954633 133954633 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000361069.4:c.3875C>A p.Thr1292Asn p.T1292N ENST00000361069 NM_006059.3 1292 aCc/aAc 0 Missense_Mutation C 18 LAMC3 SNP 9 C A 132944454 132944454 Broad C9orf171 389799 broad.mit.edu GRCh37 9 135418390 135418390 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000343036.2:c.796C>A p.Pro266Thr p.P266T ENST00000343036 NM_207417.1 266 Ccc/Acc 0 Missense_Mutation C 26 C9orf171 SNP 9 C A 134408211 134408211 Broad CAMSAP1 157922 broad.mit.edu GRCh37 9 138713707 138713707 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000389532.4:c.2800C>T p.His934Tyr p.H934Y ENST00000389532 NM_015447.3 934 Cac/Tac 0 Missense_Mutation G 46 CAMSAP1 SNP 9 G A 137853528 137853528 Broad FRMPD4 9758 broad.mit.edu GRCh37 X 12736890 12736890 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000380682.1:c.3945C>T p.Pro1315= p.P1315= ENST00000380682 NM_014728.3 1315 ccC/ccT 0 Silent C 21 FRMPD4 SNP 23 C T 12646811 12646811 Broad RS1 6247 broad.mit.edu GRCh37 X 18660213 18660213 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000379984.3:c.586T>G p.Ser196Ala p.S196A ENST00000379984 NM_000330.3 196 Tcc/Gcc 0 Missense_Mutation A 11 RS1 SNP 23 A C 18570134 18570134 Broad RLIM 51132 broad.mit.edu GRCh37 X 73811648 73811648 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000332687.6:c.1502C>T p.Ser501Leu p.S501L ENST00000332687 NM_016120.3 501 tCa/tTa 0 Missense_Mutation G 45 RLIM SNP 23 G A 73728373 73728373 Broad NRK 203447 broad.mit.edu GRCh37 X 105153288 105153288 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000428173.2:c.1658A>T p.Gln553Leu p.Q553L ENST00000428173 553 cAg/cTg 0 Missense_Mutation A 7 NRK SNP 23 A T 105039944 105039944 Broad COL4A6 1288 broad.mit.edu GRCh37 X 107403784 107403784 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown x x x ENST00000372216.4:c.4437G>A p.Val1479= p.V1479= ENST00000372216 NM_001847.2 1479 gtG/gtA 0 Silent C 25 COL4A6 SNP 23 C T 107290440 107290440 Broad OR52N2 390077 broad.mit.edu GRCh37 11 5841721 5841756 + inframe_deletion In_Frame_Del DEL CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT - novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000317037.2:c.158_193del p.His53_Phe64del p.H53_F64del ENST00000317037 NM_001005174.1 52 agCCATGAGGAGGCCCTGCACCGGCCCATGTACTACTTc/agc 0 In_Frame_Del CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT 26 OR52N2 DEL 11 - CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT 5798332 5798297 Broad BRCA1 672 broad.mit.edu GRCh37 17 41215914 41215914 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000357654.3:c.5129del p.Gly1710GlufsTer4 p.G1710Efs*4 ENST00000357654 NM_007294.3 1710 gGa/ga 0 Frame_Shift_Del C 30 BRCA1 DEL 17 - C 38469440 38469440 Broad PALLD 23022 broad.mit.edu GRCh37 4 169433138 169433162 + frameshift_variant Frame_Shift_Del DEL GGGTGGCCCCCAGAGCCAGCTGTGT GGGTGGCCCCCAGAGCCAGCTGTGT - novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000505667.1:c.484_508del p.Gly162ThrfsTer6 p.G162Tfs*6 ENST00000505667 161 aaGGGTGGCCCCCAGAGCCAGCTGTGT/aa 0 Frame_Shift_Del GGGTGGCCCCCAGAGCCAGCTGTGT 35 PALLD DEL 4 - GGGTGGCCCCCAGAGCCAGCTGTGT 169669737 169669713 Broad C9orf72 203228 broad.mit.edu GRCh37 9 27566898 27566918 + inframe_deletion In_Frame_Del DEL TTTCGAAGGATTTCTCCATTT TTTCGAAGGATTTCTCCATTT - novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000380003.3:c.201_221del p.Asn68_Asn74del p.N68_N74del ENST00000380003 NM_001256054.1 67 ctAAATGGAGAAATCCTTCGAAAt/ctt 0 In_Frame_Del TTTCGAAGGATTTCTCCATTT 52 C9orf72 DEL 9 - TTTCGAAGGATTTCTCCATTT 27556918 27556898 Broad TKTL1 8277 broad.mit.edu GRCh37 X 153540996 153541008 + frameshift_variant Frame_Shift_Del DEL AAATTAATTGAGA AAATTAATTGAGA - novel Unknown TCGA-24-2035-01 TCGA-24-2035-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000369915.3:c.736_748del p.Lys246AlafsTer26 p.K246Afs*26 ENST00000369915 NM_012253.3 246 AAATTAATTGAGAgc/gc 0 Frame_Shift_Del AAATTAATTGAGA 5 TKTL1 DEL 23 - AAATTAATTGAGA 153194202 153194190 Broad XG 7499 genome.wustl.edu GRCh37 X 2729383 2729383 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000419513.2:c.461T>C p.Met154Thr p.M154T ENST00000419513 NM_001141919.1 154 aTg/aCg 0 Missense_Mutation T 51 XG SNP 23 T C 2739383 2739383 WashU CREB3L3 84699 genome.wustl.edu GRCh37 19 4157240 4157240 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000078445.2:c.405A>G p.Thr135= p.T135= ENST00000078445 NM_032607.2 135 acA/acG 0 Silent A 5 CREB3L3 SNP 19 A G 4108240 4108240 WashU C3 718 genome.wustl.edu GRCh37 19 6697521 6697521 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000245907.6:c.2630C>A p.Thr877Asn p.T877N ENST00000245907 NM_000064.2 877 aCc/aAc 0 Missense_Mutation G 44 C3 SNP 19 G T 6648521 6648521 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578203 7578203 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.646G>A p.Val216Met p.V216M ENST00000269305 NM_001126112.2 216 Gtg/Atg 0 Missense_Mutation C 17 TP53 SNP 17 C T 7518928 7518928 WashU MUC16 94025 genome.wustl.edu GRCh37 19 9068974 9068974 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397910.4:c.18472C>A p.Gln6158Lys p.Q6158K ENST00000397910 NM_024690.2 6158 Caa/Aaa 0 Missense_Mutation G 48 MUC16 SNP 19 G T 8929974 8929974 WashU MUC16 94025 genome.wustl.edu GRCh37 19 9072137 9072137 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397910.4:c.15309G>C p.Lys5103Asn p.K5103N ENST00000397910 NM_024690.2 5103 aaG/aaC 0 Missense_Mutation C 32 MUC16 SNP 19 C G 8933137 8933137 WashU SLC6A6 6533 genome.wustl.edu GRCh37 3 14523332 14523332 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000454876.2:c.1705G>C p.Glu569Gln p.E569Q ENST00000454876 NM_001134367.2 569 Gag/Cag 0 Missense_Mutation G 45 SLC6A6 SNP 3 G C 14498336 14498336 WashU OTOR 56914 genome.wustl.edu GRCh37 20 16729556 16729556 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000246081.2:c.160G>A p.Asp54Asn p.D54N ENST00000246081 NM_020157.3 54 Gac/Aac 0 Missense_Mutation G 41 OTOR SNP 20 G A 16677556 16677556 WashU SLCO1C1 53919 genome.wustl.edu GRCh37 12 20885980 20885980 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381552.1:c.1324C>G p.Leu442Val p.L442V ENST00000381552 442 Ctg/Gtg 0 Missense_Mutation C 24 SLCO1C1 SNP 12 C G 20777247 20777247 WashU APOB 338 genome.wustl.edu GRCh37 2 21235160 21235160 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000233242.1:c.4580T>A p.Leu1527His p.L1527H ENST00000233242 NM_000384.2 1527 cTc/cAc 0 Missense_Mutation A 11 APOB SNP 2 A T 21088665 21088665 WashU ZNF729 100287226 genome.wustl.edu GRCh37 19 22498507 22498507 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000601693.1:c.2288C>G p.Thr763Ser p.T763S ENST00000601693 763 aCt/aGt 0 Missense_Mutation C 20 LOC100130518 SNP 19 C G 22290347 22290347 WashU RPL23A 6147 genome.wustl.edu GRCh37 17 27050601 27050601 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422514.2:c.399G>C p.Glu133Asp p.E133D ENST00000422514 NM_000984.5 133 gaG/gaC 0 Missense_Mutation G 33 RPL23A SNP 17 G C 24074728 24074728 WashU TNRC6A 27327 genome.wustl.edu GRCh37 16 24804800 24804800 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395799.3:c.3182G>T p.Gly1061Val p.G1061V ENST00000395799 NM_014494.2 1061 gGt/gTt 0 Missense_Mutation G 44 TNRC6A SNP 16 G T 24712301 24712301 WashU PI4K2B 55300 genome.wustl.edu GRCh37 4 25270129 25270129 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000264864.6:c.1143G>C p.Leu381Phe p.L381F ENST00000264864 NM_018323.3 381 ttG/ttC 0 Missense_Mutation G 45 PI4K2B SNP 4 G C 24879227 24879227 WashU SEC14L3 266629 genome.wustl.edu GRCh37 22 30858108 30858108 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000215812.4:c.736A>G p.Thr246Ala p.T246A ENST00000215812 NM_174975.4 246 Act/Gct 0 Missense_Mutation T 58 SEC14L3 SNP 22 T C 29188108 29188108 WashU DOC2A 8448 genome.wustl.edu GRCh37 16 30020582 30020582 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000350119.4:c.358G>C p.Asp120His p.D120H ENST00000350119 NM_003586.2 120 Gat/Cat 0 Missense_Mutation C 30 DOC2A SNP 16 C G 29928083 29928083 WashU ARHGAP5 394 genome.wustl.edu GRCh37 14 32561295 32561295 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000345122.3:c.1420G>A p.Val474Ile p.V474I ENST00000345122 NM_001030055.1 474 Gta/Ata 0 Missense_Mutation G 44 ARHGAP5 SNP 14 G A 31631046 31631046 WashU NLRC4 58484 genome.wustl.edu GRCh37 2 32475438 32475438 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000404025.2:c.1495G>T p.Val499Leu p.V499L ENST00000404025 499 Gtg/Ttg 0 Missense_Mutation C 17 NLRC4 SNP 2 C A 32328942 32328942 WashU GJB5 2709 genome.wustl.edu GRCh37 1 35223670 35223670 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338513.1:c.739G>A p.Asp247Asn p.D247N ENST00000338513 NM_005268.3 247 Gac/Aac 0 Missense_Mutation G 45 GJB5 SNP 1 G A 34996257 34996257 WashU TCP11 6954 genome.wustl.edu GRCh37 6 35086096 35086096 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311875.5:c.1501A>C p.Thr501Pro p.T501P ENST00000311875 501 Acc/Ccc 0 Missense_Mutation T 60 TCP11 SNP 6 T G 35194074 35194074 WashU PAMR1 25891 genome.wustl.edu GRCh37 11 35496225 35496225 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000278360.3:c.447C>G p.His149Gln p.H149Q ENST00000278360 NM_015430.2 149 caC/caG 0 Missense_Mutation G 36 PAMR1 SNP 11 G C 35452801 35452801 WashU GORASP1 64689 genome.wustl.edu GRCh37 3 39144201 39144201 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319283.3:c.316C>T p.Arg106Cys p.R106C ENST00000319283 NM_031899.3 106 Cgc/Tgc 0 Missense_Mutation G 39 GORASP1 SNP 3 G A 39119205 39119205 WashU MROH2B 133558 genome.wustl.edu GRCh37 5 41033156 41033156 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399564.4:c.2348T>C p.Ile783Thr p.I783T ENST00000399564 NM_173489.4 783 aTt/aCt 0 Missense_Mutation A 4 HEATR7B2 SNP 5 A G 41068913 41068913 WashU DYNC2LI1 51626 genome.wustl.edu GRCh37 2 44010664 44010664 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260605.8:c.132G>A p.Lys44= p.K44= ENST00000260605 NM_001193464.1 44 aaG/aaA 0 Silent G 33 DYNC2LI1 SNP 2 G A 43864168 43864168 WashU ST3GAL3 6487 genome.wustl.edu GRCh37 1 44290497 44290497 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262915.3:c.349C>G p.Pro117Ala p.P117A ENST00000262915 NM_174963.3 117 Cct/Gct 0 Missense_Mutation C 22 ST3GAL3 SNP 1 C G 44063084 44063084 WashU CCR3 1232 genome.wustl.edu GRCh37 3 46307596 46307596 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000545097.1:c.1010T>C p.Phe337Ser p.F337S ENST00000545097 NM_001164680.1 337 tTc/tCc 0 Missense_Mutation T 62 CCR3 SNP 3 T C 46282600 46282600 WashU LHCGR 3973 genome.wustl.edu GRCh37 2 48915723 48915723 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294954.7:c.1213G>A p.Asp405Asn p.D405N ENST00000294954 NM_000233.3 405 Gac/Aac 0 Splice_Site_SNP C 32 LHCGR SNP 2 C T 48769227 48769227 WashU TRAIP 10293 genome.wustl.edu GRCh37 3 49885593 49885593 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000331456.2:c.139C>G p.Pro47Ala p.P47A ENST00000331456 NM_005879.2 47 Cca/Gca 0 Missense_Mutation G 43 TRAIP SNP 3 G C 49860597 49860597 WashU IQSEC2 23096 genome.wustl.edu GRCh37 X 53283901 53283901 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396435.3:c.1212G>A p.Ala404= p.A404= ENST00000396435 NM_001111125.2 404 gcG/gcA 0 Silent C 19 IQSEC2 SNP 23 C T 53300626 53300626 WashU OR6C75 390323 genome.wustl.edu GRCh37 12 55759292 55759292 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343399.3:c.398T>A p.Ile133Asn p.I133N ENST00000343399 NM_001005497.1 133 aTc/aAc 0 Missense_Mutation T 50 OR6C75 SNP 12 T A 54045559 54045559 WashU OR5D16 390144 genome.wustl.edu GRCh37 11 55607071 55607071 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378396.1:c.844G>A p.Val282Met p.V282M ENST00000378396 NM_001005496.1 282 Gtg/Atg 0 Missense_Mutation G 40 OR5D16 SNP 11 G A 55363647 55363647 WashU FLNB 2317 genome.wustl.edu GRCh37 3 58111324 58111324 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000490882.1:c.3915G>C p.Glu1305Asp p.E1305D ENST00000490882 NM_001164317.1 1305 gaG/gaC 0 Missense_Mutation G 35 FLNB SNP 3 G C 58086364 58086364 WashU OR4D10 390197 genome.wustl.edu GRCh37 11 59245129 59245129 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000530162.1:c.227T>C p.Ile76Thr p.I76T ENST00000530162 NM_001004705.1 76 aTc/aCc 0 Missense_Mutation T 50 OR4D10 SNP 11 T C 59001705 59001705 WashU C14orf39 317761 genome.wustl.edu GRCh37 14 60903646 60903646 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321731.3:c.1681C>G p.Gln561Glu p.Q561E ENST00000321731 NM_174978.2 561 Cag/Gag 0 Missense_Mutation G 48 C14orf39 SNP 14 G C 59973399 59973399 WashU MS4A15 219995 genome.wustl.edu GRCh37 11 60531386 60531386 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405633.3:c.180G>T p.Leu60Phe p.L60F ENST00000405633 NM_001098835.1 60 ttG/ttT 0 Missense_Mutation G 46 MS4A15 SNP 11 G T 60287962 60287962 WashU ZNF609 23060 genome.wustl.edu GRCh37 15 64791989 64791989 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326648.3:c.371G>A p.Arg124His p.R124H ENST00000326648 NM_015042.1 124 cGc/cAc 0 Missense_Mutation G 38 ZNF609 SNP 15 G A 62579042 62579042 WashU VWA9 81556 genome.wustl.edu GRCh37 15 65899653 65899653 + intron_variant Intron SNP G G A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000420799.2:c.52-2079C>T *18* ENST00000420799 NM_001207059.1 0 Silent G 39 C15orf44 SNP 15 G A 63686706 63686706 WashU LAS1L 81887 genome.wustl.edu GRCh37 X 64744051 64744051 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374811.3:c.1185G>C p.Thr395= p.T395= ENST00000374811 NM_031206.4 395 acG/acC 0 Silent C 27 LAS1L SNP 23 C G 64660776 64660776 WashU PJA1 64219 genome.wustl.edu GRCh37 X 68382992 68382992 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000361478.1:c.90T>G p.Ala30= p.A30= ENST00000361478 NM_145119.3 30 gcT/gcG 0 Silent A 3 PJA1 SNP 23 A C 68299717 68299717 WashU ARFGEF1 10565 genome.wustl.edu GRCh37 8 68179365 68179365 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262215.3:c.1773A>G p.Gln591= p.Q591= ENST00000262215 NM_006421.4 591 caA/caG 0 Silent T 56 ARFGEF1 SNP 8 T C 68341919 68341919 WashU HCN4 10021 genome.wustl.edu GRCh37 15 73617776 73617776 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261917.3:c.1600G>A p.Val534Met p.V534M ENST00000261917 NM_005477.2 534 Gtg/Atg 0 Missense_Mutation C 18 HCN4 SNP 15 C T 71404829 71404829 WashU GTF2IRD2B 389524 genome.wustl.edu GRCh37 7 74564621 74564621 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312575.7:c.2368A>G p.Lys790Glu p.K790E ENST00000312575 NM_001003795.2 790 Aaa/Gaa 0 Missense_Mutation A 1 GTF2IRD2B SNP 7 A G 74202557 74202557 WashU MSS51 118490 genome.wustl.edu GRCh37 10 75185963 75185963 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299432.2:c.675G>A p.Pro225= p.P225= ENST00000299432 NM_001024593.1 225 ccG/ccA 0 Silent C 23 ZMYND17 SNP 10 C T 74855969 74855969 WashU CCDC146 57639 genome.wustl.edu GRCh37 7 76903942 76903942 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000285871.4:c.1413A>C p.Gln471His p.Q471H ENST00000285871 NM_020879.2 471 caA/caC 0 Missense_Mutation A 1 CCDC146 SNP 7 A C 76741878 76741878 WashU GAB2 9846 genome.wustl.edu GRCh37 11 77934467 77934467 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361507.4:c.1558G>A p.Asp520Asn p.D520N ENST00000361507 NM_080491.2 520 Gat/Aat 0 Missense_Mutation C 29 GAB2 SNP 11 C T 77612115 77612115 WashU ZNF292 23036 genome.wustl.edu GRCh37 6 87971465 87971465 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369577.3:c.8118G>T p.Met2706Ile p.M2706I ENST00000369577 NM_015021.1 2706 atG/atT 0 Missense_Mutation G 48 ZNF292 SNP 6 G T 88028184 88028184 WashU TYR 7299 genome.wustl.edu GRCh37 11 88924500 88924500 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263321.5:c.950A>C p.Asp317Ala p.D317A ENST00000263321 NM_000372.4 317 gAt/gCt 0 Missense_Mutation A 12 TYR SNP 11 A C 88564148 88564148 WashU FAM35A 54537 genome.wustl.edu GRCh37 10 88930699 88930699 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298784.1:c.1931C>G p.Ala644Gly p.A644G ENST00000298784 NM_019054.2 644 gCa/gGa 0 Missense_Mutation C 25 FAM35A SNP 10 C G 88920679 88920679 WashU SAMD9L 219285 genome.wustl.edu GRCh37 7 92761355 92761355 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318238.4:c.3930G>A p.Leu1310= p.L1310= ENST00000318238 NM_152703.2 1310 ttG/ttA 0 Silent C 21 SAMD9L SNP 7 C T 92599291 92599291 WashU ABCA4 24 genome.wustl.edu GRCh37 1 94528774 94528774 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000370225.3:c.1654G>T p.Val552Leu p.V552L ENST00000370225 NM_000350.2 552 Gta/Tta 0 Missense_Mutation C 18 ABCA4 SNP 1 C A 94301362 94301362 WashU CDH17 1015 genome.wustl.edu GRCh37 8 95172299 95172299 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000027335.3:c.1451G>T p.Ser484Ile p.S484I ENST00000027335 NM_004063.3 484 aGt/aTt 0 Missense_Mutation C 20 CDH17 SNP 8 C A 95241475 95241475 WashU VWA3B 200403 genome.wustl.edu GRCh37 2 98804464 98804464 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000477737.1:c.1338A>C p.Ala446= p.A446= ENST00000477737 NM_144992.4 446 gcA/gcC 0 Silent A 5 VWA3B SNP 2 A C 98170896 98170896 WashU RGS22 26166 genome.wustl.edu GRCh37 8 101117621 101117621 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360863.6:c.35C>T p.Thr12Ile p.T12I ENST00000360863 NM_015668.3 12 aCt/aTt 0 Missense_Mutation G 36 RGS22 SNP 8 G A 101186797 101186797 WashU RELN 5649 genome.wustl.edu GRCh37 7 103214613 103214613 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 A A A C A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000428762.1:c.4437T>G p.Asp1479Glu p.D1479E ENST00000428762 NM_005045.3 1479 gaT/gaG 0 Missense_Mutation A 8 RELN SNP 7 A C 103001849 103001849 WashU SLC26A3 1811 genome.wustl.edu GRCh37 7 107414533 107414533 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340010.5:c.1839A>G p.Ile613Met p.I613M ENST00000340010 NM_000111.2 613 atA/atG 0 Missense_Mutation T 53 SLC26A3 SNP 7 T C 107201769 107201769 WashU IFT81 28981 genome.wustl.edu GRCh37 12 110581325 110581325 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000242591.5:c.920C>G p.Ser307Cys p.S307C ENST00000242591 NM_014055.3 307 tCt/tGt 0 Missense_Mutation C 32 IFT81 SNP 12 C G 109065708 109065708 WashU SLC16A4 9122 genome.wustl.edu GRCh37 1 110923659 110923659 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369779.4:c.471G>A p.Leu157= p.L157= ENST00000369779 NM_001201547.1 157 ctG/ctA 0 Silent C 29 SLC16A4 SNP 1 C T 110725182 110725182 WashU KCND3 3752 genome.wustl.edu GRCh37 1 112329626 112329626 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315987.2:c.1209T>C p.Val403= p.V403= ENST00000315987 NM_004980.4 403 gtT/gtC 0 Silent A 1 KCND3 SNP 1 A G 112131149 112131149 WashU CADM1 23705 genome.wustl.edu GRCh37 11 115088693 115088693 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000452722.3:c.740T>A p.Ile247Asn p.I247N ENST00000452722 NM_014333.3 247 aTt/aAt 0 Missense_Mutation A 4 CADM1 SNP 11 A T 114593903 114593903 WashU ENPP2 5168 genome.wustl.edu GRCh37 8 120575156 120575156 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000259486.6:c.2518C>A p.Pro840Thr p.P840T ENST00000259486 NM_006209.4 840 Cct/Act 0 Missense_Mutation G 43 ENPP2 SNP 8 G T 120644337 120644337 WashU GRK5 2869 genome.wustl.edu GRCh37 10 121093310 121093310 + intron_variant Intron SNP C C G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392870.2:c.148+7187C>G *50* ENST00000392870 NM_005308.2 0 Missense_Mutation C 28 GRK5 SNP 10 C G 121083300 121083300 WashU UBC 7316 genome.wustl.edu GRCh37 12 125398164 125398164 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000536769.1:c.154G>A p.Asp52Asn p.D52N ENST00000536769 52 Gat/Aat 0 Missense_Mutation C 32 UBC SNP 12 C T 123964117 123964117 WashU KALRN 8997 genome.wustl.edu GRCh37 3 124413265 124413265 + downstream_gene_variant 3'Flank SNP C C G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000584173 0 Missense_Mutation C 26 KALRN SNP 3 C G 125895955 125895955 WashU LCT 3938 genome.wustl.edu GRCh37 2 136570088 136570088 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264162.2:c.2146G>C p.Val716Leu p.V716L ENST00000264162 NM_002299.2 716 Gtg/Ctg 0 Missense_Mutation C 17 LCT SNP 2 C G 136286558 136286558 WashU PIK3CB 5291 genome.wustl.edu GRCh37 3 138423330 138423330 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000289153.2:c.1536T>G p.Ile512Met p.I512M ENST00000289153 NM_006219.2 512 atT/atG 0 Missense_Mutation A 5 PIK3CB SNP 3 A C 139906020 139906020 WashU PCDHB12 56124 genome.wustl.edu GRCh37 5 140590510 140590510 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000239450.2:c.2031C>T p.Ala677= p.A677= ENST00000239450 NM_018932.3 677 gcC/gcT 0 Silent C 22 PCDHB12 SNP 5 C T 140570694 140570694 WashU LRP1B 53353 genome.wustl.edu GRCh37 2 141458145 141458145 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389484.3:c.6473G>A p.Cys2158Tyr p.C2158Y ENST00000389484 NM_018557.2 2158 tGt/tAt 0 Missense_Mutation C 17 LRP1B SNP 2 C T 141174615 141174615 WashU SPANXN3 139067 genome.wustl.edu GRCh37 X 142596669 142596669 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370503.2:c.401C>G p.Ser134Cys p.S134C ENST00000370503 NM_001009609.2 134 tCt/tGt 0 Missense_Mutation G 33 SPANXN3 SNP 23 G C 142424335 142424335 WashU ARHGAP30 257106 genome.wustl.edu GRCh37 1 161022312 161022312 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000368013.3:c.858C>T p.Val286= p.V286= ENST00000368013 NM_181720.2 286 gtC/gtT 0 Silent G 45 ARHGAP30 SNP 1 G A 159288936 159288936 WashU USP21 27005 genome.wustl.edu GRCh37 1 161130804 161130804 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000368002.3:c.374C>T p.Ala125Val p.A125V ENST00000368002 NM_001014443.2 125 gCc/gTc 0 Missense_Mutation C 26 USP21 SNP 1 C T 159397428 159397428 WashU MPZ 4359 genome.wustl.edu GRCh37 1 161275956 161275956 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000533357.1:c.587C>G p.Ala196Gly p.A196G ENST00000533357 NM_000530.6 196 gCt/gGt 0 Missense_Mutation G 34 MPZ SNP 1 G C 159542580 159542580 WashU ZNF354B 117608 genome.wustl.edu GRCh37 5 178310100 178310100 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322434.3:c.647G>A p.Cys216Tyr p.C216Y ENST00000322434 NM_058230.2 216 tGc/tAc 0 Missense_Mutation G 46 ZNF354B SNP 5 G A 178242706 178242706 WashU NCF2 4688 genome.wustl.edu GRCh37 1 183529377 183529378 + missense_variant Missense_Mutation DNP TC TC GT novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 TC TC TC GT TC TC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367535.3:c.1321_1322delinsAC p.Glu441Thr p.E441T ENST00000367535 NM_000433.3 441 GAa/ACa 0 Missense TC 62 NCF2 DNP 1 TC GT 181796001 181796000 WashU PPFIA4 8497 genome.wustl.edu GRCh37 1 203033069 203033069 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000272198.6:c.1470G>A p.Met490Ile p.M490I ENST00000272198 NM_015053.1 490 atG/atA 0 Missense_Mutation G 46 PPFIA4 SNP 1 G A 201299692 201299692 WashU KMO 8564 genome.wustl.edu GRCh37 1 241731804 241731804 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366559.4:c.814C>A p.Leu272Ile p.L272I ENST00000366559 NM_003679.4 272 Ctc/Atc 0 Missense_Mutation C 20 KMO SNP 1 C A 239798427 239798427 WashU AHCTF1 25909 genome.wustl.edu GRCh37 1 247071042 247071042 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326225.3:c.602G>C p.Gly201Ala p.G201A ENST00000326225 NM_015446.4 201 gGt/gCt 0 Missense_Mutation C 18 AHCTF1 SNP 1 G G 245137665 245137665 WashU DNAH9 1770 genome.wustl.edu GRCh37 17 11672606 11672606 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C T T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000262442.4:c.7512C>T p.Asn2504= p.N2504= ENST00000262442 NM_001372.3 2504 aaC/aaT 0 Silent C 19 DNAH9 SNP 17 T T 11613331 11613331 WashU ZNF320 162967 genome.wustl.edu GRCh37 19 53386928 53386928 + intron_variant Intron SNP G G A novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000595635.1:c.143-1692C>T *48* ENST00000595635 NM_207333.2 0 Missense_Mutation G 47 ZNF320 SNP 19 A G 58078740 58078740 WashU NRXN2 9379 genome.wustl.edu GRCh37 11 64390411 64390411 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1435-01 TCGA-24-1435-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265459.6:c.3987C>A p.Pro1329= p.P1329= ENST00000265459 NM_015080.3 1329 ccC/ccA 0 Silent G 47 NRXN2 SNP 11 G T 64146987 64146987 WashU TRAF1 7185 genome.wustl.edu GRCh37 9 123673632 123673632 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-24-1435-01 TCGA-24-1435-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000373887.3:c.865G>A p.Val289Ile p.V289I ENST00000373887 NM_005658.4 289 Gtc/Atc 0 Missense_Mutation C 19 TRAF1 SNP 9 C T 122713453 122713453 WashU COL24A1 255631 genome.wustl.edu GRCh37 1 86497578 86497585 + frameshift_variant Frame_Shift_Del DEL CCGGAGGA CCGGAGGA - Unknown TCGA-24-1435-01 TCGA-24-1435-10 CCGGAGGA CCGGAGGA CCGGAGGA - CCGGAGGA CCGGAGGA Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000370571.2:c.2025_2032del p.Pro676ValfsTer5 p.P676Vfs*5 ENST00000370571 NM_152890.5 675 ggTCCTCCGGgg/gggg 0 Frame_Shift_Del CCGGAGGA 22 COL24A1 DEL 1 CCGGAGGA - 86270173 86270166 WashU VSIG2 23584 genome.wustl.edu GRCh37 11 124620707 124620710 + frameshift_variant Frame_Shift_Del DEL GTCA GTCA - Unknown TCGA-24-1435-01 TCGA-24-1435-10 GTCA GTCA GTCA - GTCA GTCA Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000326621.5:c.327_330del p.Asp110SerfsTer26 p.D110Sfs*26 ENST00000326621 NM_014312.3 109 acTGAC/ac 0 Frame_Shift_Del GTCA 40 VSIG2 DEL 11 GTCA - 124125920 124125917 WashU AIM1 202 genome.wustl.edu GRCh37 6 106969189 106969214 + frameshift_variant Frame_Shift_Del DEL AGGCTAATCATATTGAAAGTGTTATT AGGCTAATCATATTGAAAGTGTTATT - Unknown TCGA-24-1435-01 TCGA-24-1435-10 AGGCTAATCATATTGAAAGTGTTATT AGGCTAATCATATTGAAAGTGTTATT AGGCTAATCATATTGAAAGTGTTATT - AGGCTAATCATATTGAAAGTGTTATT AGGCTAATCATATTGAAAGTGTTATT Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000369066.3:c.2883_2908del p.Ala962IlefsTer10 p.A962Ifs*10 ENST00000369066 NM_001624.2 961 aAGGCTAATCATATTGAAAGTGTTATT/a 0 Frame_Shift_Del AGGCTAATCATATTGAAAGTGTTATT 3 AIM1 DEL 6 AGGCTAATCATATTGAAAGTGTTATT - 107075907 107075882 WashU RPS6 6194 genome.wustl.edu GRCh37 9 19379608 19379610 + inframe_deletion In_Frame_Del DEL GAT GAT - Unknown TCGA-24-1435-01 TCGA-24-1435-10 GAT GAT GAT - GAT GAT Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000380394.4:c.13_15del p.Ile5del p.I5del ENST00000380394 NM_001010.2 5 ATC/- 0 In_Frame_Del GAT 33 RPS6 DEL 9 GAT - 19369610 19369608 WashU NBPF1 55672 broad.mit.edu GRCh37 1 16907929 16907929 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000430580.2:c.1365A>G p.Glu455= p.E455= ENST00000430580 NM_017940.4 455 gaA/gaG 0 Silent T 52 NBPF1 SNP 1 T C 16780516 16780516 Broad UBR4 23352 broad.mit.edu GRCh37 1 19443728 19443729 + stop_gained Nonsense_Mutation DNP CC CC AT novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000375254.3:c.10809_10810delinsAT p.Glu3604Ter p.E3604* ENST00000375254 NM_020765.2 3603 gtGGag/gtATag 0 Nonsense_Mutation CC 30 UBR4 DNP 1 CC AT 19316316 19316315 Broad E2F2 1870 broad.mit.edu GRCh37 1 23848384 23848384 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000361729.2:c.523G>A p.Val175Met p.V175M ENST00000361729 NM_004091.3 175 Gtg/Atg 0 Missense_Mutation C 19 E2F2 SNP 1 C T 23720971 23720971 Broad GPATCH4 54865 broad.mit.edu GRCh37 1 156568827 156568827 + splice_region_variant,intron_variant Splice_Region SNP G G A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000438976.2:c.32-5C>T p.X11_splice ENST00000438976 0 Silent G 43 GPATCH4 SNP 1 G A 154835451 154835451 Broad CUBN 8029 broad.mit.edu GRCh37 10 16911718 16911718 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000377833.4:c.9371G>A p.Ser3124Asn p.S3124N ENST00000377833 NM_001081.3 3124 aGc/aAc 0 Missense_Mutation C 28 CUBN SNP 10 C T 16951724 16951724 Broad YME1L1 10730 broad.mit.edu GRCh37 10 27425283 27425283 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000326799.3:c.633G>C p.Leu211Phe p.L211F ENST00000326799 NM_139312.2 211 ttG/ttC 0 Missense_Mutation C 29 YME1L1 SNP 10 C G 27465289 27465289 Broad ANKRD30A 91074 broad.mit.edu GRCh37 10 37451766 37451766 + synonymous_variant Silent SNP A A T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000361713.1:c.1824A>T p.Thr608= p.T608= ENST00000361713 NM_052997.2 608 acA/acT 0 Silent A 8 ANKRD30A SNP 10 A T 37491772 37491772 Broad ANK3 288 broad.mit.edu GRCh37 10 61967869 61967869 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000280772.2:c.1119G>A p.Val373= p.V373= ENST00000280772 NM_020987.3 373 gtG/gtA 0 Silent C 21 ANK3 SNP 10 C T 61637875 61637875 Broad PLCE1 51196 broad.mit.edu GRCh37 10 96006017 96006017 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000371380.3:c.2735A>G p.Asn912Ser p.N912S ENST00000371380 912 aAt/aGt 0 Missense_Mutation A 4 PLCE1 SNP 10 A G 95996007 95996007 Broad SLIT1 6585 broad.mit.edu GRCh37 10 98816965 98816965 + splice_donor_variant Splice_Site SNP A A C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000266058.4:c.1157+2T>G p.X386_splice ENST00000266058 NM_003061.2 0 Splice_Site_SNP A 14 SLIT1 SNP 10 A C 98806955 98806955 Broad NRAP 4892 broad.mit.edu GRCh37 10 115377234 115377234 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000359988.3:c.2953A>G p.Ser985Gly p.S985G ENST00000359988 NM_001261463.1 985 Agt/Ggt 0 Missense_Mutation T 53 NRAP SNP 10 T C 115367224 115367224 Broad MRPL23 6150 broad.mit.edu GRCh37 11 1972164 1972164 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000397298.3:c.53G>C p.Arg18Pro p.R18P ENST00000397298 NM_021134.3 18 cGg/cCg 0 Missense_Mutation G 39 MRPL23 SNP 11 G C 1928740 1928740 Broad TRIM6-TRIM34 445372 broad.mit.edu GRCh37 11 5653739 5653739 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000354852.5:c.1240G>C p.Gly414Arg p.G414R ENST00000354852 NM_001003819.3 414 Ggt/Cgt 0 Missense_Mutation G 47 TRIM6-TRIM34 SNP 11 G C 5610315 5610315 Broad OR5P2 120065 broad.mit.edu GRCh37 11 7818266 7818266 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000329434.2:c.224C>A p.Pro75His p.P75H ENST00000329434 NM_153444.1 75 cCc/cAc 0 Missense_Mutation G 43 OR5P2 SNP 11 G T 7774842 7774842 Broad HPS5 11234 broad.mit.edu GRCh37 11 18305396 18305396 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000349215.3:c.3004G>A p.Ala1002Thr p.A1002T ENST00000349215 NM_181507.1 1002 Gcc/Acc 0 Missense_Mutation C 26 HPS5 SNP 11 C T 18261972 18261972 Broad KCNA4 3739 broad.mit.edu GRCh37 11 30034024 30034024 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000328224.6:c.202C>G p.Arg68Gly p.R68G ENST00000328224 NM_002233.3 68 Cgc/Ggc 0 Missense_Mutation G 40 KCNA4 SNP 11 G C 29990600 29990600 Broad RAG1 5896 broad.mit.edu GRCh37 11 36597760 36597760 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000299440.5:c.2906A>C p.Lys969Thr p.K969T ENST00000299440 NM_000448.2 969 aAa/aCa 0 Missense_Mutation A 1 RAG1 SNP 11 A C 36554336 36554336 Broad PRPF19 27339 broad.mit.edu GRCh37 11 60668820 60668820 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000227524.4:c.589G>T p.Glu197Ter p.E197* ENST00000227524 NM_014502.4 197 Gag/Tag 0 Nonsense_Mutation C 30 PRPF19 SNP 11 C A 60425396 60425396 Broad NUMA1 4926 broad.mit.edu GRCh37 11 71724726 71724726 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000393695.3:c.3823G>A p.Glu1275Lys p.E1275K ENST00000393695 NM_006185.2 1275 Gag/Aag 0 Missense_Mutation C 32 NUMA1 SNP 11 C T 71402374 71402374 Broad NUMA1 4926 broad.mit.edu GRCh37 11 71725594 71725594 + synonymous_variant Silent SNP C C A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000393695.3:c.2955G>T p.Arg985= p.R985= ENST00000393695 NM_006185.2 985 cgG/cgT 0 Silent C 22 NUMA1 SNP 11 C A 71403242 71403242 Broad OR6X1 390260 broad.mit.edu GRCh37 11 123624729 123624729 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000327930.2:c.498C>T p.Phe166= p.F166= ENST00000327930 NM_001005188.1 166 ttC/ttT 0 Silent G 33 OR6X1 SNP 11 G A 123129939 123129939 Broad PKNOX2 63876 broad.mit.edu GRCh37 11 125300009 125300009 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000298282.9:c.1164G>A p.Gln388= p.Q388= ENST00000298282 NM_022062.2 388 caG/caA 0 Silent G 35 PKNOX2 SNP 11 G A 124805219 124805219 Broad CCDC77 84318 broad.mit.edu GRCh37 12 549794 549794 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000239830.4:c.1053T>C p.Asp351= p.D351= ENST00000239830 NM_032358.3 351 gaT/gaC 0 Silent T 49 CCDC77 SNP 12 T C 420055 420055 Broad WNK1 65125 broad.mit.edu GRCh37 12 977829 977829 + intron_variant Intron SNP A A G novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000315939.6:c.2140-2602A>G *714* ENST00000315939 NM_018979.3 0 Silent A 11 WNK1 SNP 12 A G 848090 848090 Broad KRT78 196374 broad.mit.edu GRCh37 12 53238393 53238393 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000304620.4:c.871G>T p.Glu291Ter p.E291* ENST00000304620 NM_173352.2 291 Gag/Tag 0 Nonsense_Mutation C 30 KRT78 SNP 12 C A 51524660 51524660 Broad EP400 57634 broad.mit.edu GRCh37 12 132497562 132497562 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000389561.2:c.3450C>T p.Ala1150= p.A1150= ENST00000389561 NM_015409.4 1150 gcC/gcT 0 Silent C 23 EP400 SNP 12 C T 131063515 131063515 Broad BRCA2 675 broad.mit.edu GRCh37 13 32914137 32914137 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000380152.3:c.5645C>A p.Ser1882Ter p.S1882* ENST00000380152 1882 tCa/tAa 0 Nonsense_Mutation C 29 BRCA2 SNP 13 C A 31812137 31812137 Broad SLC39A2 29986 broad.mit.edu GRCh37 14 21467686 21467686 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000298681.4:c.81C>T p.Ile27= p.I27= ENST00000298681 NM_014579.3 27 atC/atT 0 Silent C 32 SLC39A2 SNP 14 C T 20537526 20537526 Broad LRRC16B 90668 broad.mit.edu GRCh37 14 24525902 24525902 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000342740.5:c.937G>C p.Ala313Pro p.A313P ENST00000342740 NM_138360.3 313 Gcc/Ccc 0 Missense_Mutation G 46 LRRC16B SNP 14 G C 23595742 23595742 Broad LRFN5 145581 broad.mit.edu GRCh37 14 42373367 42373367 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000298119.4:c.2149G>T p.Glu717Ter p.E717* ENST00000298119 NM_152447.3 717 Gag/Tag 0 Nonsense_Mutation G 41 LRFN5 SNP 14 G T 41443117 41443117 Broad GOLGA5 9950 broad.mit.edu GRCh37 14 93282701 93282701 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000163416.2:c.1426G>C p.Glu476Gln p.E476Q ENST00000163416 NM_005113.3 476 Gag/Cag 0 Missense_Mutation G 33 GOLGA5 SNP 14 G C 92352454 92352454 Broad TMED3 23423 broad.mit.edu GRCh37 15 79606253 79606253 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000299705.5:c.323C>A p.Thr108Asn p.T108N ENST00000299705 NM_007364.2 108 aCc/aAc 0 Missense_Mutation C 18 TMED3 SNP 15 C A 77393308 77393308 Broad MPG 4350 broad.mit.edu GRCh37 16 135510 135510 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000219431.4:c.631G>T p.Asp211Tyr p.D211Y ENST00000219431 NM_002434.3 211 Gac/Tac 0 Missense_Mutation G 41 MPG SNP 16 G T 75510 75510 Broad GPR97 222487 broad.mit.edu GRCh37 16 57718387 57718387 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000333493.4:c.1248T>C p.Ser416= p.S416= ENST00000333493 NM_170776.4 416 tcT/tcC 0 Silent T 54 GPR97 SNP 16 T C 56275888 56275888 Broad CDH5 1003 broad.mit.edu GRCh37 16 66413331 66413331 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000341529.3:c.91G>A p.Ala31Thr p.A31T ENST00000341529 NM_001795.3 31 Gcc/Acc 0 Missense_Mutation G 46 CDH5 SNP 16 G A 64970832 64970832 Broad COG8 84342 broad.mit.edu GRCh37 16 69373397 69373397 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000306875.4:c.59A>T p.Glu20Val p.E20V ENST00000306875 NM_032382.4 20 gAg/gTg 0 Missense_Mutation T 54 COG8 SNP 16 T A 67930898 67930898 Broad TAF1C 9013 broad.mit.edu GRCh37 16 84213193 84213193 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000567759.1:c.1964C>T p.Ala655Val p.A655V ENST00000567759 NM_005679.3 655 gCa/gTa 0 Missense_Mutation G 46 TAF1C SNP 16 G A 82770694 82770694 Broad PLD2 5338 broad.mit.edu GRCh37 17 4711106 4711106 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000263088.6:c.39C>T p.Asp13= p.D13= ENST00000263088 NM_001243108.1 13 gaC/gaT 0 Silent C 19 PLD2 SNP 17 C T 4658070 4658070 Broad ZBTB4 57659 broad.mit.edu GRCh37 17 7366384 7366384 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000311403.4:c.1917C>T p.Asp639= p.D639= ENST00000311403 NM_020899.3 639 gaC/gaT 0 Silent G 40 ZBTB4 SNP 17 G A 7307108 7307108 Broad TP53 7157 broad.mit.edu GRCh37 17 7577511 7577511 + missense_variant Missense_Mutation SNP A A T rs28934577 Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.770T>A p.Leu257Gln p.L257Q ENST00000269305 NM_001126112.2 257 cTg/cAg 0 Missense_Mutation A 7 TP53 SNP 17 A T 7518236 7518236 Broad MYH2 4620 broad.mit.edu GRCh37 17 10442604 10442604 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000245503.5:c.1334G>A p.Arg445His p.R445H ENST00000245503 NM_017534.5 445 cGc/cAc 0 Missense_Mutation C 27 MYH2 SNP 17 C T 10383329 10383329 Broad SGCA 6442 broad.mit.edu GRCh37 17 48245919 48245919 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000262018.3:c.570G>C p.Glu190Asp p.E190D ENST00000262018 NM_000023.2 190 gaG/gaC 0 Missense_Mutation G 35 SGCA SNP 17 G C 45600918 45600918 Broad ABCA5 23461 broad.mit.edu GRCh37 17 67251926 67251926 + synonymous_variant Silent SNP T T A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000392676.3:c.3924A>T p.Ser1308= p.S1308= ENST00000392676 1308 tcA/tcT 0 Silent T 63 ABCA5 SNP 17 T A 64763521 64763521 Broad SLC25A23 79085 broad.mit.edu GRCh37 19 6454349 6454349 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000301454.4:c.780C>A p.Phe260Leu p.F260L ENST00000301454 NM_024103.2 260 ttC/ttA 0 Missense_Mutation G 45 SLC25A23 SNP 19 G T 6405349 6405349 Broad OR7D4 125958 broad.mit.edu GRCh37 19 9325271 9325271 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000308682.2:c.243G>A p.Met81Ile p.M81I ENST00000308682 NM_001005191.2 81 atG/atA 0 Missense_Mutation C 25 OR7D4 SNP 19 C T 9186271 9186271 Broad NOTCH3 4854 broad.mit.edu GRCh37 19 15300209 15300209 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000263388.2:c.1067T>C p.Val356Ala p.V356A ENST00000263388 NM_000435.2 356 gTc/gCc 0 Missense_Mutation A 10 NOTCH3 SNP 19 A G 15161209 15161209 Broad BST2 684 broad.mit.edu GRCh37 19 17515202 17515202 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000252593.6:c.330A>C p.Gln110His p.Q110H ENST00000252593 NM_004335.2 110 caA/caC 0 Missense_Mutation T 64 BST2 SNP 19 T G 17376202 17376202 Broad CD22 933 broad.mit.edu GRCh37 19 35828898 35828898 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000085219.5:c.959C>T p.Ser320Leu p.S320L ENST00000085219 NM_001771.3 320 tCg/tTg 0 Missense_Mutation C 31 CD22 SNP 19 C T 40520738 40520738 Broad CD22 933 broad.mit.edu GRCh37 19 35836609 35836609 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000085219.5:c.2313C>G p.Asn771Lys p.N771K ENST00000085219 NM_001771.3 771 aaC/aaG 0 Missense_Mutation C 17 CD22 SNP 19 C G 40528449 40528449 Broad ZNF112 7771 broad.mit.edu GRCh37 19 44831844 44831844 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000337401.4:c.2484A>G p.Thr828= p.T828= ENST00000337401 NM_001083335.1 828 acA/acG 0 Silent T 55 ZFP112 SNP 19 T C 49523684 49523684 Broad BCL3 602 broad.mit.edu GRCh37 19 45262838 45262838 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000164227.5:c.1331C>A p.Pro444Gln p.P444Q ENST00000164227 NM_005178.4 444 cCg/cAg 0 Missense_Mutation C 23 BCL3 SNP 19 C A 49954678 49954678 Broad GRIN2D 2906 broad.mit.edu GRCh37 19 48917363 48917363 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000263269.3:c.1200+1G>C p.X400_splice ENST00000263269 NM_000836.2 0 Splice_Site_SNP G 44 GRIN2D SNP 19 G C 53609175 53609175 Broad SNTG2 54221 broad.mit.edu GRCh37 2 1079341 1079341 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000308624.5:c.210T>A p.Asn70Lys p.N70K ENST00000308624 NM_018968.3 70 aaT/aaA 0 Missense_Mutation T 51 SNTG2 SNP 2 T A 1069341 1069341 Broad LHCGR 3973 broad.mit.edu GRCh37 2 48915191 48915191 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000294954.7:c.1745T>C p.Met582Thr p.M582T ENST00000294954 NM_000233.3 582 aTg/aCg 0 Missense_Mutation A 8 LHCGR SNP 2 A G 48768695 48768695 Broad USP34 9736 broad.mit.edu GRCh37 2 61493280 61493280 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000398571.2:c.5456A>T p.Asn1819Ile p.N1819I ENST00000398571 NM_014709.3 1819 aAt/aTt 0 Missense_Mutation T 52 USP34 SNP 2 T A 61346784 61346784 Broad WDPCP 51057 broad.mit.edu GRCh37 2 63631555 63631555 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000272321.7:c.1063G>T p.Gly355Cys p.G355C ENST00000272321 NM_015910.5 355 Ggc/Tgc 0 Missense_Mutation C 22 C2orf86 SNP 2 C A 63485059 63485059 Broad MAT2A 4144 broad.mit.edu GRCh37 2 85769846 85769847 + synonymous_variant Silent DNP TC TC AT novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000306434.3:c.927_928delinsAT p.GlyLeu309= p.GL309= ENST00000306434 NM_005911.5 309 ggTCtg/ggATtg 0 Silent TC 58 MAT2A DNP 2 TC AT 85623358 85623357 Broad MARCO 8685 broad.mit.edu GRCh37 2 119739825 119739825 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000327097.4:c.995G>T p.Arg332Leu p.R332L ENST00000327097 NM_006770.3 332 cGa/cTa 0 Missense_Mutation G 37 MARCO SNP 2 G T 119456295 119456295 Broad MGAT5 4249 broad.mit.edu GRCh37 2 135012008 135012008 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000409645.1:c.34C>T p.Gln12Ter p.Q12* ENST00000409645 12 Cag/Tag 0 Nonsense_Mutation C 29 MGAT5 SNP 2 C T 134728478 134728478 Broad SCN3A 6328 broad.mit.edu GRCh37 2 165947360 165947360 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000283254.7:c.5303C>G p.Ala1768Gly p.A1768G ENST00000283254 NM_001081676.1 1768 gCg/gGg 0 Missense_Mutation G 38 SCN3A SNP 2 G C 165655606 165655606 Broad TTN 7273 broad.mit.edu GRCh37 2 179600414 179600414 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.14759C>T p.Thr4920Met p.T4920M ENST00000589042 NM_001267550.1 4920 aCg/aTg 0 Missense_Mutation G 40 TTN SNP 2 G A 179308659 179308659 Broad PTH2R 5746 broad.mit.edu GRCh37 2 209358310 209358310 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000272847.2:c.1579G>C p.Glu527Gln p.E527Q ENST00000272847 NM_005048.3 527 Gag/Cag 0 Missense_Mutation G 41 PTH2R SNP 2 G C 209066555 209066555 Broad MAP2 4133 broad.mit.edu GRCh37 2 210559403 210559403 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000360351.4:c.2509G>C p.Glu837Gln p.E837Q ENST00000360351 NM_002374.3 837 Gag/Cag 0 Missense_Mutation G 33 MAP2 SNP 2 G C 210267648 210267648 Broad USP37 57695 broad.mit.edu GRCh37 2 219324534 219324534 + synonymous_variant Silent SNP C C T rs71415835 Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000258399.3:c.2622G>A p.Glu874= p.E874= ENST00000258399 NM_020935.2 874 gaG/gaA 0 Silent C 24 USP37 SNP 2 C T 219032778 219032778 Broad ASB18 401036 broad.mit.edu GRCh37 2 237149994 237149994 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000409749.3:c.257A>C p.Asn86Thr p.N86T ENST00000409749 NM_212556.2 86 aAc/aCc 0 Missense_Mutation T 60 ASB18 SNP 2 T G 236814733 236814733 Broad DZANK1 55184 broad.mit.edu GRCh37 20 18429628 18429628 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000262547.5:c.629A>G p.Lys210Arg p.K210R ENST00000262547 NM_001099407.1 210 aAg/aGg 0 Missense_Mutation T 56 C20orf12 SNP 20 T C 18377628 18377628 Broad BPIFB2 80341 broad.mit.edu GRCh37 20 31600702 31600702 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000170150.3:c.297C>G p.Phe99Leu p.F99L ENST00000170150 NM_025227.2 99 ttC/ttG 0 Missense_Mutation C 29 BPIL1 SNP 20 C G 31064363 31064363 Broad SLC7A4 6545 broad.mit.edu GRCh37 22 21384504 21384504 + synonymous_variant Silent SNP C C G novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000382932.2:c.1119G>C p.Ala373= p.A373= ENST00000382932 NM_004173.2 373 gcG/gcC 0 Silent C 19 SLC7A4 SNP 22 C G 19714504 19714504 Broad KLHL40 131377 broad.mit.edu GRCh37 3 42727422 42727422 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000287777.4:c.312G>T p.Leu104Phe p.L104F ENST00000287777 NM_152393.3 104 ttG/ttT 0 Missense_Mutation G 48 KBTBD5 SNP 3 G T 42702426 42702426 Broad CCR3 1232 broad.mit.edu GRCh37 3 46306815 46306815 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000545097.1:c.229G>T p.Val77Leu p.V77L ENST00000545097 NM_001164680.1 77 Gtg/Ttg 0 Missense_Mutation G 44 CCR3 SNP 3 G T 46281819 46281819 Broad HYAL3 8372 broad.mit.edu GRCh37 3 50332978 50332978 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000336307.1:c.56G>A p.Cys19Tyr p.C19Y ENST00000336307 NM_003549.3 19 tGt/tAt 0 Missense_Mutation C 17 HYAL3 SNP 3 C T 50307982 50307982 Broad GRK7 131890 broad.mit.edu GRCh37 3 141526491 141526491 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000264952.2:c.1055G>C p.Gly352Ala p.G352A ENST00000264952 NM_139209.2 352 gGa/gCa 0 Missense_Mutation G 41 GRK7 SNP 3 G C 143009181 143009181 Broad WDR49 151790 broad.mit.edu GRCh37 3 167254678 167254678 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000308378.3:c.878C>A p.Pro293His p.P293H ENST00000308378 NM_178824.3 293 cCt/cAt 0 Missense_Mutation G 35 WDR49 SNP 3 G T 168737372 168737372 Broad TP63 8626 broad.mit.edu GRCh37 3 189456558 189456558 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000264731.3:c.319A>T p.Met107Leu p.M107L ENST00000264731 NM_003722.4 107 Atg/Ttg 0 Missense_Mutation A 8 TP63 SNP 3 A T 190939252 190939252 Broad FAT4 79633 broad.mit.edu GRCh37 4 126241852 126241852 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000394329.3:c.4286T>C p.Ile1429Thr p.I1429T ENST00000394329 NM_024582.4 1429 aTt/aCt 0 Missense_Mutation T 52 FAT4 SNP 4 T C 126461302 126461302 Broad IQGAP2 10788 broad.mit.edu GRCh37 5 75989197 75989197 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000274364.6:c.3923T>C p.Ile1308Thr p.I1308T ENST00000274364 NM_006633.2 1308 aTt/aCt 0 Missense_Mutation T 52 IQGAP2 SNP 5 T C 76024953 76024953 Broad PCDHA2 56146 broad.mit.edu GRCh37 5 140175782 140175782 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000526136.1:c.1233C>T p.Ser411= p.S411= ENST00000526136 NM_018905.2 411 agC/agT 0 Silent C 27 PCDHA2 SNP 5 C T 140155966 140155966 Broad FBXO38 81545 broad.mit.edu GRCh37 5 147807510 147807510 + intron_variant Intron SNP G G C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000394370.3:c.2428+225G>C *810* ENST00000394370 0 Missense_Mutation G 35 FBXO38 SNP 5 G C 147787703 147787703 Broad LARP1 23367 broad.mit.edu GRCh37 5 154182974 154182974 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000336314.4:c.2002+1G>T p.X668_splice ENST00000336314 NM_015315.4 0 Splice_Site_SNP G 44 LARP1 SNP 5 G T 154163167 154163167 Broad HLA-DRA 3122 broad.mit.edu GRCh37 6 32410436 32410436 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000395388.2:c.294G>A p.Met98Ile p.M98I ENST00000395388 NM_019111.4 98 atG/atA 0 Missense_Mutation G 45 HLA-DRA SNP 6 G A 32518414 32518414 Broad ANKS1A 23294 broad.mit.edu GRCh37 6 35051281 35051281 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000360359.3:c.2994+1G>C p.X998_splice ENST00000360359 NM_015245.2 0 Splice_Site_SNP G 44 ANKS1A SNP 6 G C 35159259 35159259 Broad GLO1 2739 broad.mit.edu GRCh37 6 38670772 38670772 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000373365.4:c.59G>A p.Cys20Tyr p.C20Y ENST00000373365 NM_006708.2 20 tGc/tAc 0 Missense_Mutation C 25 GLO1 SNP 6 C T 38778750 38778750 Broad GLO1 2739 broad.mit.edu GRCh37 6 38670803 38670803 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000373365.4:c.28G>T p.Gly10Cys p.G10C ENST00000373365 NM_006708.2 10 Ggc/Tgc 0 Missense_Mutation C 23 GLO1 SNP 6 C A 38778781 38778781 Broad TCTE1 202500 broad.mit.edu GRCh37 6 44250202 44250202 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000371505.4:c.941T>G p.Leu314Trp p.L314W ENST00000371505 NM_182539.3 314 tTg/tGg 0 Missense_Mutation A 5 TCTE1 SNP 6 A C 44358180 44358180 Broad SUPT3H 8464 broad.mit.edu GRCh37 6 44971503 44971503 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000371460.1:c.424A>G p.Asn142Asp p.N142D ENST00000371460 NM_181356.2 142 Aac/Gac 0 Missense_Mutation T 62 SUPT3H SNP 6 T C 45079481 45079481 Broad GCLC 2729 broad.mit.edu GRCh37 6 53373417 53373417 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000229416.6:c.921A>G p.Arg307= p.R307= ENST00000229416 NM_001197115.1 307 agA/agG 0 Silent T 62 GCLC SNP 6 T C 53481376 53481376 Broad KIAA1244 57221 broad.mit.edu GRCh37 6 138531163 138531163 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000251691.4:c.336G>T p.Gln112His p.Q112H ENST00000251691 NM_020340.4 112 caG/caT 0 Missense_Mutation G 35 KIAA1244 SNP 6 G T 138572856 138572856 Broad TULP4 56995 broad.mit.edu GRCh37 6 158910754 158910754 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000367097.3:c.1621A>G p.Lys541Glu p.K541E ENST00000367097 NM_020245.4 541 Aaa/Gaa 0 Missense_Mutation A 5 TULP4 SNP 6 A G 158830742 158830742 Broad WIPF3 644150 broad.mit.edu GRCh37 7 29915498 29915498 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000409290.1:c.143C>T p.Ala48Val p.A48V ENST00000409290 NM_001080529.2 48 gCg/gTg 0 Missense_Mutation C 27 WIPF3 SNP 7 C T 29882023 29882023 Broad ELMO1 9844 broad.mit.edu GRCh37 7 37298836 37298836 + synonymous_variant Silent SNP T T A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000310758.4:c.363A>T p.Ile121= p.I121= ENST00000310758 NM_014800.10 121 atA/atT 0 Silent T 61 ELMO1 SNP 7 T A 37265361 37265361 Broad AMPH 273 broad.mit.edu GRCh37 7 38505849 38505849 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000356264.2:c.591-1G>A p.X197_splice ENST00000356264 NM_001635.3 0 Splice_Site_SNP C 32 AMPH SNP 7 C T 38472374 38472374 Broad EGFR 1956 broad.mit.edu GRCh37 7 55223626 55223626 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000275493.2:c.993G>A p.Gly331= p.G331= ENST00000275493 NM_005228.3 331 ggG/ggA 0 Silent G 42 EGFR SNP 7 G A 55191120 55191120 Broad MAGI2 9863 broad.mit.edu GRCh37 7 78636415 78636415 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000354212.4:c.409A>C p.Thr137Pro p.T137P ENST00000354212 NM_012301.3 137 Acg/Ccg 0 Missense_Mutation T 59 MAGI2 SNP 7 T G 78474351 78474351 Broad SEMA3A 10371 broad.mit.edu GRCh37 7 83764252 83764252 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000265362.4:c.128A>T p.Asn43Ile p.N43I ENST00000265362 NM_006080.2 43 aAc/aTc 0 Missense_Mutation T 60 SEMA3A SNP 7 T A 83602188 83602188 Broad PPP1R3A 5506 broad.mit.edu GRCh37 7 113558793 113558793 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000284601.3:c.259A>G p.Ser87Gly p.S87G ENST00000284601 NM_002711.3 87 Agt/Ggt 0 Missense_Mutation T 54 PPP1R3A SNP 7 T C 113346029 113346029 Broad UBXN2B 137886 broad.mit.edu GRCh37 8 59358548 59358548 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000399598.2:c.754G>A p.Asp252Asn p.D252N ENST00000399598 NM_001077619.1 252 Gat/Aat 0 Missense_Mutation G 45 UBXN2B SNP 8 G A 59521102 59521102 Broad VPS13B 157680 broad.mit.edu GRCh37 8 100887770 100887770 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000358544.2:c.11945C>A p.Ala3982Asp p.A3982D ENST00000358544 NM_017890.4 3982 gCt/gAt 0 Missense_Mutation C 28 VPS13B SNP 8 C A 100956946 100956946 Broad CHRAC1 54108 broad.mit.edu GRCh37 8 141521679 141521679 + synonymous_variant Silent SNP C C A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000220913.5:c.81C>A p.Ile27= p.I27= ENST00000220913 NM_017444.5 27 atC/atA 0 Silent C 29 CHRAC1 SNP 8 C A 141590861 141590861 Broad C8orf31 286122 broad.mit.edu GRCh37 8 144124643 144124643 + synonymous_variant Silent SNP C C G novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000395172.1:c.150C>G p.Pro50= p.P50= ENST00000395172 NM_173687.2 50 ccC/ccG 0 Silent C 24 C8orf31 SNP 8 C G 144196018 144196018 Broad SPATA31D1 389763 broad.mit.edu GRCh37 9 84607573 84607573 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000344803.2:c.2188G>C p.Gly730Arg p.G730R ENST00000344803 NM_001001670.2 730 Gga/Cga 0 Missense_Mutation G 47 FLJ46321 SNP 9 G C 83797393 83797393 Broad GRIN3A 116443 broad.mit.edu GRCh37 9 104432515 104432515 + synonymous_variant Silent SNP A A G novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000361820.3:c.2179T>C p.Leu727= p.L727= ENST00000361820 NM_133445.2 727 Ttg/Ctg 0 Silent A 3 GRIN3A SNP 9 A G 103472336 103472336 Broad TUBB4B 10383 broad.mit.edu GRCh37 9 140137892 140137892 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000340384.4:c.1222T>A p.Phe408Ile p.F408I ENST00000340384 NM_006088.5 408 Ttc/Atc 0 Missense_Mutation T 60 TUBB2C SNP 9 T A 139257713 139257713 Broad WWC3 55841 broad.mit.edu GRCh37 X 10062214 10062214 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000380861.4:c.550G>A p.Val184Ile p.V184I ENST00000380861 NM_015691.3 184 Gtt/Att 0 Missense_Mutation G 40 WWC3 SNP 23 G A 10022214 10022214 Broad ELK1 2002 broad.mit.edu GRCh37 X 47498652 47498652 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000247161.3:c.296G>T p.Cys99Phe p.C99F ENST00000247161 NM_005229.4 99 tGc/tTc 0 Missense_Mutation C 25 ELK1 SNP 23 C A 47383596 47383596 Broad HUWE1 10075 broad.mit.edu GRCh37 X 53607799 53607799 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000342160.3:c.5708C>G p.Ser1903Ter p.S1903* ENST00000342160 1903 tCa/tGa 0 Nonsense_Mutation G 45 HUWE1 SNP 23 G C 53624524 53624524 Broad NONO 4841 broad.mit.edu GRCh37 X 70511753 70511753 + synonymous_variant Silent SNP A A C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000276079.8:c.279A>C p.Leu93= p.L93= ENST00000276079 NM_007363.4 93 ctA/ctC 0 Silent A 16 NONO SNP 23 A C 70428478 70428478 Broad PHKA1 5255 broad.mit.edu GRCh37 X 71856224 71856224 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000373542.4:c.1472G>C p.Arg491Thr p.R491T ENST00000373542 NM_002637.3 491 aGa/aCa 0 Missense_Mutation C 32 PHKA1 SNP 23 C G 71772949 71772949 Broad ARMCX1 51309 broad.mit.edu GRCh37 X 100808009 100808009 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000372829.3:c.96C>T p.Asp32= p.D32= ENST00000372829 NM_016608.1 32 gaC/gaT 0 Silent C 19 ARMCX1 SNP 23 C T 100694665 100694665 Broad LRCH2 57631 broad.mit.edu GRCh37 X 114404900 114404900 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000317135.8:c.960A>G p.Ser320= p.S320= ENST00000317135 NM_020871.3 320 tcA/tcG 0 Silent T 51 LRCH2 SNP 23 T C 114311156 114311156 Broad GPR119 139760 broad.mit.edu GRCh37 X 129518830 129518830 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000276218.2:c.592C>A p.Gln198Lys p.Q198K ENST00000276218 NM_178471.2 198 Cag/Aag 0 Missense_Mutation G 46 GPR119 SNP 23 G T 129346511 129346511 Broad SLC9A6 10479 broad.mit.edu GRCh37 X 135092707 135092707 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown x x x ENST00000370695.4:c.1006G>T p.Ala336Ser p.A336S ENST00000370695 NM_001042537.1 336 Gca/Tca 0 Missense_Mutation G 46 SLC9A6 SNP 23 G T 134920373 134920373 Broad TTLL7 79739 broad.mit.edu GRCh37 1 84408222 84408222 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000260505.8:c.647del p.Leu216GlnfsTer26 p.L216Qfs*26 ENST00000260505 NM_024686.4 216 cTa/ca 0 Frame_Shift_Del A 15 TTLL7 DEL 1 - A 84180810 84180810 Broad MADD 8567 broad.mit.edu GRCh37 11 47297640 47297643 + frameshift_variant Frame_Shift_Del DEL CTTC CTTC - novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000311027.5:c.851_854del p.Leu284GlnfsTer8 p.L284Qfs*8 ENST00000311027 NM_003682.3 284 CTTCca/ca 0 Frame_Shift_Del CTTC 32 MADD DEL 11 - CTTC 47254219 47254216 Broad PRPF39 55015 broad.mit.edu GRCh37 14 45583439 45583441 + stop_gained,inframe_deletion Nonsense_Mutation DEL TAA TAA - novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000355765.6:c.1811_1813del p.Leu604_Lys605delinsTer p.L604_K605delins* ENST00000355765 NM_017922.3 604 tTAAaa/taa 0 In_Frame_Del TAA 61 PRPF39 DEL 14 - TAA 44653191 44653189 Broad GPR179 440435 broad.mit.edu GRCh37 17 36483547 36483572 + frameshift_variant Frame_Shift_Del DEL CGGAATCTGCTGGGGCAGTGGTCTCC CGGAATCTGCTGGGGCAGTGGTCTCC - novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000342292.4:c.5880_5905del p.Trp1960CysfsTer10 p.W1960Cfs*10 ENST00000342292 NM_001004334.2 1960 tgGGAGACCACTGCCCCAGCAGATTCCGtc/tgtc 0 Frame_Shift_Del CGGAATCTGCTGGGGCAGTGGTCTCC 19 GPR179 DEL 17 - - 33737098 33737073 Broad TGM3 7053 broad.mit.edu GRCh37 20 2320586 2320605 + frameshift_variant Frame_Shift_Del DEL GCTGATGGTGGAGGGAAGCG GCTGATGGTGGAGGGAAGCG - novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000381458.5:c.1889_1908del p.Leu630ProfsTer5 p.L630Pfs*5 ENST00000381458 NM_003245.3 629 gtGCTGATGGTGGAGGGAAGCGgc/gtgc 0 Frame_Shift_Del GCTGATGGTGGAGGGAAGCG 46 TGM3 DEL 20 - GCTGATGGTGGAGGGAAGCG 2268605 2268586 Broad RFTN1 23180 broad.mit.edu GRCh37 3 16358366 16358369 + frameshift_variant Frame_Shift_Del DEL ACTT ACTT - novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000334133.4:c.1703_1706del p.Glu568AlafsTer21 p.E568Afs*21 ENST00000334133 NM_015150.1 568 gAAGTc/gc 0 Frame_Shift_Del ACTT 10 RFTN1 DEL 3 - - 16333373 16333370 Broad KIAA1109 84162 broad.mit.edu GRCh37 4 123267917 123267935 + splice_donor_variant,intron_variant Splice_Site DEL TAAGCTTGTTATGTAATTT TAAGCTTGTTATGTAATTT - novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000264501.4:c.12871+5_12871+23del p.X4291_splice ENST00000264501 0 Splice_Site_Del TAAGCTTGTTATGTAATTT 57 KIAA1109 DEL 4 - TAAGCTTGTTATGTAATTT 123487385 123487367 Broad FAT4 79633 broad.mit.edu GRCh37 4 126367536 126367541 + inframe_deletion In_Frame_Del DEL AAAGAT AAAGAT - novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000394329.3:c.7284_7289del p.Lys2428_Asp2429del p.K2428_D2429del ENST00000394329 NM_024582.4 2428 AAAGAT/- 0 In_Frame_Del AAAGAT 1 FAT4 DEL 4 - - 126586991 126586986 Broad MSN 4478 broad.mit.edu GRCh37 X 64958948 64958953 + inframe_deletion In_Frame_Del DEL GGCAGA GGCAGA - novel Unknown TCGA-09-2050-01 TCGA-09-2050-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000360270.5:c.1464_1469del p.Glu489_Ala490del p.E489_A490del ENST00000360270 NM_002444.2 487 ggGGCAGAg/ggg 0 In_Frame_Del GGCAGA 43 MSN DEL 23 - GGCAGA 64875678 64875673 Broad ABCC12 94160 hgsc.bcm.edu GRCh37 16 48174701 48174701 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311303.3:c.554C>T p.Ala185Val p.A185V ENST00000311303 NM_033226.2 185 gCc/gTc 0 Missense_Mutation G 42 ABCC12 SNP 16 G A 46732202 46732202 Baylor ACTN2 88 hgsc.bcm.edu GRCh37 1 236900457 236900457 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000366578.4:c.819T>G p.Leu273= p.L273= ENST00000366578 NM_001278344.1 273 ctT/ctG 0 Silent T 63 ACTN2 SNP 1 T G 234967080 234967080 Baylor ADAM33 80332 hgsc.bcm.edu GRCh37 20 3655433 3655433 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356518.2:c.397T>C p.Cys133Arg p.C133R ENST00000356518 NM_025220.2 133 Tgc/Cgc 0 Missense_Mutation A 7 ADAM33 SNP 20 A G 3603433 3603433 Baylor ADAMTS9 56999 hgsc.bcm.edu GRCh37 3 64587734 64587734 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000498707.1:c.3903C>T p.Asp1301= p.D1301= ENST00000498707 NM_182920.1 1301 gaC/gaT 0 Silent G 48 ADAMTS9 SNP 3 G A 64562774 64562774 Baylor ADCK1 57143 hgsc.bcm.edu GRCh37 14 78397970 78397970 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000238561.5:c.1316G>A p.Arg439His p.R439H ENST00000238561 NM_020421.3 439 cGt/cAt 0 Missense_Mutation G 40 ADCK1 SNP 14 G A 77467723 77467723 Baylor AK7 122481 hgsc.bcm.edu GRCh37 14 96922785 96922785 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000267584.4:c.1200T>G p.Asp400Glu p.D400E ENST00000267584 NM_152327.3 400 gaT/gaG 0 Missense_Mutation T 51 AK7 SNP 14 T G 95992538 95992538 Baylor ARHGAP20 57569 hgsc.bcm.edu GRCh37 11 110454331 110454331 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000260283.4:c.1546A>C p.Ser516Arg p.S516R ENST00000260283 NM_020809.3 516 Agt/Cgt 0 Missense_Mutation T 56 ARHGAP20 SNP 11 T G 109959541 109959541 Baylor BACH1 571 hgsc.bcm.edu GRCh37 21 30715062 30715062 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000399921.1:c.2119G>T p.Glu707Ter p.E707* ENST00000399921 NM_206866.1 707 Gag/Tag 0 Nonsense_Mutation G 45 BACH1 SNP 21 G T 29636933 29636933 Baylor BDKRB1 623 hgsc.bcm.edu GRCh37 14 96730695 96730695 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000216629.6:c.676C>A p.Leu226Met p.L226M ENST00000216629 NM_000710.3 226 Ctg/Atg 0 Missense_Mutation C 24 BDKRB1 SNP 14 C A 95800448 95800448 Baylor BRCA2 675 hgsc.bcm.edu GRCh37 13 32936675 32936675 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380152.3:c.7821del p.Pro2608GlnfsTer40 p.P2608Qfs*40 ENST00000380152 2607 acT/ac 0 Frame_Shift_Del T 54 BRCA2 DEL 13 T - 31834675 31834675 Baylor SCAI 286205 hgsc.bcm.edu GRCh37 9 127818182 127818182 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373549.4:c.272A>T p.Lys91Ile p.K91I ENST00000373549 NM_173690.4 91 aAa/aTa 0 Missense_Mutation T 64 SCAI SNP 9 T A 126858003 126858003 Baylor CLPTM1L 81037 hgsc.bcm.edu GRCh37 5 1341926 1341926 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000320895.5:c.313T>C p.Tyr105His p.Y105H ENST00000320895 NM_030782.3 105 Tat/Cat 0 Missense_Mutation A 14 CLPTM1L SNP 5 A G 1394926 1394926 Baylor COL17A1 1308 hgsc.bcm.edu GRCh37 10 105821222 105821222 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000353479.5:c.920del p.Val307GlyfsTer12 p.V307Gfs*12 ENST00000353479 NM_000494.3 307 gTg/gg 0 Frame_Shift_Del A 6 COL17A1 DEL 10 A - 105811212 105811212 Baylor CTSE 1510 hgsc.bcm.edu GRCh37 1 206320307 206320307 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358184.2:c.450C>T p.Ala150= p.A150= ENST00000358184 NM_001910.3 150 gcC/gcT 0 Silent C 23 CTSE SNP 1 C T 204486930 204486930 Baylor DGKB 1607 hgsc.bcm.edu GRCh37 7 14613881 14613881 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000403951.2:c.1729C>T p.Pro577Ser p.P577S ENST00000403951 577 Cca/Tca 0 Missense_Mutation G 43 DGKB SNP 7 G A 14580406 14580406 Baylor DOC2B 8447 hgsc.bcm.edu GRCh37 17 11294 11295 + inframe_insertion In_Frame_Ins INS - - CAGTCC novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000343572.7:c.676_677insGGACTG p.Asn225_Glu226insGlyThr p.N225_E226insGT ENST00000343572 NM_003585.4 226 gag/gGGACTGag 0 In_Frame_Ins - 54 DOC2B INS 17 - CAGTCC 11295 11294 Baylor DONSON 29980 hgsc.bcm.edu GRCh37 21 34954294 34954294 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000303071.5:c.1114G>T p.Asp372Tyr p.D372Y ENST00000303071 NM_017613.3 372 Gat/Tat 0 Missense_Mutation C 32 DONSON SNP 21 C A 33876164 33876164 Baylor DRP2 1821 hgsc.bcm.edu GRCh37 X 100510224 100510224 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395209.3:c.2232C>T p.Ser744= p.S744= ENST00000395209 NM_001939.2 744 tcC/tcT 0 Silent C 22 DRP2 SNP 23 C T 100396880 100396880 Baylor COL26A1 136227 hgsc.bcm.edu GRCh37 7 101200669 101200669 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000313669.7:c.1184A>G p.Glu395Gly p.E395G ENST00000313669 NM_001278563.1 395 gAg/gGg 0 Missense_Mutation A 11 EMID2 SNP 7 A G 100987389 100987389 Baylor FAM160B2 64760 hgsc.bcm.edu GRCh37 8 21956051 21956052 + missense_variant Missense_Mutation DNP CA CA AC novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000289921.7:c.886_887delinsAC p.His296Thr p.H296T ENST00000289921 NM_022749.5 296 CAc/ACc 0 Indel -A 25 FAM160B2 Indel 8 -A AC 22011998 22011997 Baylor GOLGA4 2803 hgsc.bcm.edu GRCh37 3 37365328 37365328 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356847.4:c.2017C>G p.Gln673Glu p.Q673E ENST00000356847 NM_001172713.1 673 Caa/Gaa 0 Missense_Mutation C 17 GOLGA4 SNP 3 C G 37340332 37340332 Baylor HECW1 23072 hgsc.bcm.edu GRCh37 7 43590042 43590042 + splice_acceptor_variant Splice_Site SNP A A T novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395891.2:c.4249-2A>T p.X1417_splice ENST00000395891 NM_015052.3 0 Splice_Site_SNP A 3 HECW1 SNP 7 A T 43556567 43556567 Baylor HLA-DRB1 3123 hgsc.bcm.edu GRCh37 6 32551948 32551948 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360004.5:c.308delC p.Ala103GlyfsTer26 p.A103Gfs*26 ENST00000360004 NM_002124.3 103 gCg/gg 0 Frame_Shift_Del G 38 HLA-DRB1 DEL 6 G - 32659926 32659926 Baylor IGSF9B 22997 hgsc.bcm.edu GRCh37 11 133801003 133801003 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000533871.2:c.1395C>T p.His465= p.H465= ENST00000533871 NM_001277285.1 465 caC/caT 0 Silent G 48 IGSF9B SNP 11 G A 133306213 133306213 Baylor KCNMA1 3778 hgsc.bcm.edu GRCh37 10 78729786 78729786 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000404857.1:c.2132delA p.Lys711SerfsTer17 p.K711Sfs*17 ENST00000404857 NM_001161353.1 711 aAg/ag 0 Frame_Shift_Del T 56 KCNMA1 DEL 10 T - 78399792 78399792 Baylor AREL1 9870 hgsc.bcm.edu GRCh37 14 75131548 75131548 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000356357.4:c.2184C>G p.Phe728Leu p.F728L ENST00000356357 NM_001039479.1 728 ttC/ttG 0 Missense_Mutation G 45 KIAA0317 SNP 14 G C 74201301 74201301 Baylor KIAA0556 23247 hgsc.bcm.edu GRCh37 16 27629814 27629814 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000261588.4:c.132G>C p.Gln44His p.Q44H ENST00000261588 NM_015202.2 44 caG/caC 0 Missense_Mutation G 33 KIAA0556 SNP 16 G C 27537315 27537315 Baylor LAMB1 3912 hgsc.bcm.edu GRCh37 7 107599755 107599755 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000222399.6:c.2629G>A p.Asp877Asn p.D877N ENST00000222399 NM_002291.2 877 Gac/Aac 0 Missense_Mutation C 31 LAMB1 SNP 7 C T 107386991 107386991 Baylor LIMD1 8994 hgsc.bcm.edu GRCh37 3 45636879 45636879 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000273317.4:c.508G>T p.Asp170Tyr p.D170Y ENST00000273317 NM_014240.2 170 Gat/Tat 0 Missense_Mutation G 41 LIMD1 SNP 3 G T 45611883 45611883 Baylor MAP7D3 79649 hgsc.bcm.edu GRCh37 X 135326817 135326817 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000316077.9:c.391A>T p.Arg131Ter p.R131* ENST00000316077 NM_024597.3 131 Aga/Tga 0 Nonsense_Mutation T 56 MAP7D3 SNP 23 T A 135154483 135154483 Baylor OR5B17 219965 hgsc.bcm.edu GRCh37 11 58126355 58126355 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357377.3:c.188A>G p.Asn63Ser p.N63S ENST00000357377 NM_001005489.1 63 aAc/aGc 0 Missense_Mutation T 60 OR5B17 SNP 11 T C 57882931 57882931 Baylor OR8U1 219417 hgsc.bcm.edu GRCh37 11 56143126 56143126 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302270.1:c.27G>A p.Ala9= p.A9= ENST00000302270 NM_001005204.1 9 gcG/gcA 0 Silent G 37 OR8U1 SNP 11 G A 55899702 55899702 Baylor PARP10 84875 hgsc.bcm.edu GRCh37 8 145059425 145059425 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000313028.7:c.745A>G p.Ile249Val p.I249V ENST00000313028 NM_032789.3 249 Atc/Gtc 0 Missense_Mutation T 51 PARP10 SNP 8 T C 145131413 145131413 Baylor PARP3 10039 hgsc.bcm.edu GRCh37 3 51981825 51981825 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000398755.3:c.1367A>T p.Glu456Val p.E456V ENST00000398755 456 gAg/gTg 0 Missense_Mutation A 11 PARP3 SNP 3 A T 51956865 51956865 Baylor PPFIA4 8497 hgsc.bcm.edu GRCh37 1 203030110 203030110 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000272198.6:c.1279G>A p.Val427Ile p.V427I ENST00000272198 NM_015053.1 427 Gtc/Atc 0 Missense_Mutation G 48 PPFIA4 SNP 1 G A 201296733 201296733 Baylor PRAMEF12 390999 hgsc.bcm.edu GRCh37 1 12837322 12837322 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357726.4:c.1032G>T p.Glu344Asp p.E344D ENST00000357726 NM_001080830.1 344 gaG/gaT 0 Missense_Mutation G 34 PRAMEF12 SNP 1 G T 12759909 12759909 Baylor RHBG 57127 hgsc.bcm.edu GRCh37 1 156354348 156354348 + frameshift_variant Frame_Shift_Del DEL C C - rs11303415 Unknown TCGA-24-1555-01 TCGA-24-1555-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368249.1:c.1272delC p.Arg425AspfsTer35 p.R425Dfs*35 ENST00000368249 NM_020407.4 422 tCc/tc 0 Frame_Shift_Del C 30 RHBG DEL 1 C - 154620972 154620972 Baylor SLAMF6 114836 hgsc.bcm.edu GRCh37 1 160461154 160461154 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368057.3:c.407C>A p.Thr136Asn p.T136N ENST00000368057 136 aCc/aAc 0 Missense_Mutation G 44 SLAMF6 SNP 1 G T 158727778 158727778 Baylor SLC7A14 57709 hgsc.bcm.edu GRCh37 3 170198580 170198580 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000231706.5:c.1491G>A p.Gly497= p.G497= ENST00000231706 NM_020949.2 497 ggG/ggA 0 Silent C 30 SLC7A14 SNP 3 C T 171681274 171681274 Baylor SRRM2 23524 hgsc.bcm.edu GRCh37 16 2815496 2815496 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000301740.8:c.4967A>T p.Glu1656Val p.E1656V ENST00000301740 NM_016333.3 1656 gAg/gTg 0 Missense_Mutation A 11 SRRM2 SNP 16 A T 2755497 2755497 Baylor SYTL2 54843 hgsc.bcm.edu GRCh37 11 85435367 85435367 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354566.3:c.2133T>A p.Thr711= p.T711= ENST00000354566 NM_206927.2 711 acT/acA 0 Silent A 7 SYTL2 SNP 11 A T 85113015 85113015 Baylor TKT 7086 hgsc.bcm.edu GRCh37 3 53260781 53260781 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000423516.1:c.1711T>G p.Tyr571Asp p.Y571D ENST00000423516 NM_001258028.1 571 Tat/Gat 0 Missense_Mutation A 13 TKT SNP 3 A C 53235821 53235821 Baylor TMPRSS5 80975 hgsc.bcm.edu GRCh37 11 113560533 113560533 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000299882.5:c.1313A>G p.Tyr438Cys p.Y438C ENST00000299882 NM_030770.2 438 tAc/tGc 0 Missense_Mutation T 57 TMPRSS5 SNP 11 T C 113065743 113065743 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578393 7578393 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000269305.4:c.537T>G p.His179Gln p.H179Q ENST00000269305 NM_001126112.2 179 caT/caG 0 Missense_Mutation A 8 TP53 SNP 17 A C 7519118 7519118 Baylor TRPV4 59341 hgsc.bcm.edu GRCh37 12 110222186 110222186 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000418703.2:c.2393A>G p.Asp798Gly p.D798G ENST00000418703 NM_001177431.1 798 gAc/gGc 0 Missense_Mutation T 58 TRPV4 SNP 12 T C 108706569 108706569 Baylor TXLNA 200081 hgsc.bcm.edu GRCh37 1 32657974 32657974 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373609.1:c.1026G>T p.Gln342His p.Q342H ENST00000373609 342 caG/caT 0 Missense_Mutation G 34 TXLNA SNP 1 G T 32430561 32430561 Baylor ZDHHC9 51114 hgsc.bcm.edu GRCh37 X 128957688 128957688 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357166.6:c.454G>A p.Ala152Thr p.A152T ENST00000357166 NM_016032.3 152 Gcc/Acc 0 Missense_Mutation C 26 ZDHHC9 SNP 23 C T 128785369 128785369 Baylor ZNF451 26036 hgsc.bcm.edu GRCh37 6 57012439 57012439 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1555-01 TCGA-24-1555-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370706.4:c.1556G>T p.Arg519Leu p.R519L ENST00000370706 NM_001031623.2 519 cGg/cTg 0 Missense_Mutation G 39 ZNF451 SNP 6 G T 57120398 57120398 Baylor PRAMEF1 65121 broad.mit.edu GRCh37 1 12854535 12854535 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000332296.7:c.759A>T p.Gly253= p.G253= ENST00000332296 NM_023013.2 253 ggA/ggT 0 Silent A 10 PRAMEF1 SNP 1 A T 12777122 12777122 Broad FABP3 2170 broad.mit.edu GRCh37 1 31845845 31845845 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000373713.2:c.17T>G p.Leu6Arg p.L6R ENST00000373713 NM_004102.3 6 cTg/cGg 0 Missense_Mutation A 7 FABP3 SNP 1 A C 31618432 31618432 Broad FAM46C 54855 broad.mit.edu GRCh37 1 118165807 118165807 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000369448.3:c.317A>T p.Gln106Leu p.Q106L ENST00000369448 NM_017709.3 106 cAg/cTg 0 Missense_Mutation A 7 FAM46C SNP 1 A T 117967330 117967330 Broad GON4L 54856 broad.mit.edu GRCh37 1 155721913 155721913 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000437809.1:c.6308C>G p.Ser2103Ter p.S2103* ENST00000437809 2103 tCa/tGa 0 Nonsense_Mutation G 45 GON4L SNP 1 G C 153988537 153988537 Broad C1orf112 55732 broad.mit.edu GRCh37 1 169816937 169816937 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000286031.6:c.2051C>G p.Ala684Gly p.A684G ENST00000286031 NM_018186.2 684 gCt/gGt 0 Missense_Mutation C 28 C1orf112 SNP 1 C G 168083561 168083561 Broad FLVCR1 28982 broad.mit.edu GRCh37 1 213037125 213037125 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000366971.4:c.797A>C p.Asp266Ala p.D266A ENST00000366971 NM_014053.3 266 gAc/gCc 0 Missense_Mutation A 10 FLVCR1 SNP 1 A C 211103748 211103748 Broad EDARADD 128178 broad.mit.edu GRCh37 1 236645683 236645683 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000334232.4:c.382A>C p.Lys128Gln p.K128Q ENST00000334232 NM_145861.2 128 Aag/Cag 0 Missense_Mutation A 1 EDARADD SNP 1 A C 234712306 234712306 Broad NEURL1 9148 broad.mit.edu GRCh37 10 105330762 105330762 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000369780.4:c.219G>C p.Gln73His p.Q73H ENST00000369780 NM_004210.4 73 caG/caC 0 Missense_Mutation G 33 NEURL SNP 10 G C 105320752 105320752 Broad PIK3C2A 5286 broad.mit.edu GRCh37 11 17158079 17158079 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000265970.7:c.1798G>A p.Val600Ile p.V600I ENST00000265970 NM_002645.2 600 Gta/Ata 0 Missense_Mutation C 20 PIK3C2A SNP 11 C T 17114655 17114655 Broad LRP4 4038 broad.mit.edu GRCh37 11 46890610 46890610 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000378623.1:c.4766A>G p.Asn1589Ser p.N1589S ENST00000378623 NM_002334.3 1589 aAc/aGc 0 Missense_Mutation T 60 LRP4 SNP 11 T C 46847186 46847186 Broad FNBP4 23360 broad.mit.edu GRCh37 11 47746282 47746282 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000263773.5:c.2057T>C p.Leu686Pro p.L686P ENST00000263773 NM_015308.2 686 cTc/cCc 0 Missense_Mutation A 11 FNBP4 SNP 11 A G 47702858 47702858 Broad MS4A6A 64231 broad.mit.edu GRCh37 11 59945777 59945777 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000412309.2:c.379G>A p.Gly127Ser p.G127S ENST00000412309 NM_022349.3 127 Ggc/Agc 0 Missense_Mutation C 21 MS4A6A SNP 11 C T 59702353 59702353 Broad C11orf80 79703 broad.mit.edu GRCh37 11 66581446 66581446 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000360962.4:c.1149T>C p.His383= p.H383= ENST00000360962 NM_024650.3 383 caT/caC 0 Silent T 52 C11orf80 SNP 11 T C 66338022 66338022 Broad PGM2L1 283209 broad.mit.edu GRCh37 11 74047745 74047745 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000298198.4:c.1821G>C p.Glu607Asp p.E607D ENST00000298198 NM_173582.3 607 gaG/gaC 0 Missense_Mutation C 32 PGM2L1 SNP 11 C G 73725393 73725393 Broad MRE11A 4361 broad.mit.edu GRCh37 11 94209517 94209517 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000323929.3:c.597A>T p.Thr199= p.T199= ENST00000323929 NM_005591.3 199 acA/acT 0 Silent T 63 MRE11A SNP 11 T A 93849165 93849165 Broad IL10RA 3587 broad.mit.edu GRCh37 11 117864092 117864092 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000227752.3:c.504G>C p.Glu168Asp p.E168D ENST00000227752 NM_001558.3 168 gaG/gaC 0 Missense_Mutation G 33 IL10RA SNP 11 G C 117369302 117369302 Broad AICDA 57379 broad.mit.edu GRCh37 12 8757516 8757516 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000229335.6:c.430T>C p.Tyr144His p.Y144H ENST00000229335 NM_020661.2 144 Tat/Cat 0 Missense_Mutation A 13 AICDA SNP 12 A G 8648783 8648783 Broad GRIN2B 2904 broad.mit.edu GRCh37 12 14018753 14018753 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000609686.1:c.390C>A p.Ser130= p.S130= ENST00000609686 NM_000834.3 130 tcC/tcA 0 Silent G 35 GRIN2B SNP 12 G T 13910020 13910020 Broad LRMP 4033 broad.mit.edu GRCh37 12 25255168 25255168 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000354454.3:c.926A>T p.Asn309Ile p.N309I ENST00000354454 NM_006152.3 309 aAc/aTc 0 Missense_Mutation A 2 LRMP SNP 12 A T 25146435 25146435 Broad KIF21A 55605 broad.mit.edu GRCh37 12 39711962 39711962 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000361418.5:c.3821C>T p.Ser1274Phe p.S1274F ENST00000361418 1274 tCt/tTt 0 Missense_Mutation G 33 KIF21A SNP 12 G A 37998229 37998229 Broad TIMELESS 8914 broad.mit.edu GRCh37 12 56824745 56824745 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000553532.1:c.829C>A p.Arg277= p.R277= ENST00000553532 277 Cga/Aga 0 Silent G 37 TIMELESS SNP 12 G T 55111012 55111012 Broad GLI1 2735 broad.mit.edu GRCh37 12 57864464 57864464 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000228682.2:c.1941C>A p.Asp647Glu p.D647E ENST00000228682 NM_005269.2 647 gaC/gaA 0 Missense_Mutation C 18 GLI1 SNP 12 C A 56150731 56150731 Broad XPOT 11260 broad.mit.edu GRCh37 12 64824051 64824051 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000332707.5:c.1960G>A p.Ala654Thr p.A654T ENST00000332707 NM_007235.4 654 Gct/Act 0 Missense_Mutation G 46 XPOT SNP 12 G A 63110318 63110318 Broad GLIPR1L2 144321 broad.mit.edu GRCh37 12 75804241 75804241 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000550916.1:c.262G>C p.Ala88Pro p.A88P ENST00000550916 NM_001270396.1 88 Gct/Cct 0 Missense_Mutation G 46 GLIPR1L2 SNP 12 G C 74090508 74090508 Broad CDK17 5128 broad.mit.edu GRCh37 12 96688840 96688840 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000261211.3:c.934C>G p.Arg312Gly p.R312G ENST00000261211 NM_002595.4 312 Cga/Gga 0 Missense_Mutation G 37 CDK17 SNP 12 G C 95212971 95212971 Broad HECTD4 283450 broad.mit.edu GRCh37 12 112667666 112667666 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000550722.1:c.5917A>G p.Met1973Val p.M1973V ENST00000550722 NM_001109662.3 1973 Atg/Gtg 0 Missense_Mutation T 50 C12orf51 SNP 12 T C 111152049 111152049 Broad SACS 26278 broad.mit.edu GRCh37 13 23914961 23914961 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000382298.3:c.3054G>C p.Glu1018Asp p.E1018D ENST00000382298 NM_014363.5 1018 gaG/gaC 0 Missense_Mutation C 32 SACS SNP 13 C G 22812961 22812961 Broad SLITRK1 114798 broad.mit.edu GRCh37 13 84454092 84454092 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000377084.2:c.1551G>T p.Gln517His p.Q517H ENST00000377084 NM_052910.2 517 caG/caT 0 Missense_Mutation C 20 SLITRK1 SNP 13 C A 83352093 83352093 Broad KLHDC1 122773 broad.mit.edu GRCh37 14 50196231 50196231 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000359332.2:c.675C>T p.His225= p.H225= ENST00000359332 NM_172193.2 225 caC/caT 0 Silent C 20 KLHDC1 SNP 14 C T 49265981 49265981 Broad BDKRB1 623 broad.mit.edu GRCh37 14 96730165 96730165 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000216629.6:c.146T>C p.Phe49Ser p.F49S ENST00000216629 NM_000710.3 49 tTc/tCc 0 Missense_Mutation T 62 BDKRB1 SNP 14 T C 95799918 95799918 Broad TRPM7 54822 broad.mit.edu GRCh37 15 50884152 50884152 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000313478.7:c.4280C>G p.Ser1427Cys p.S1427C ENST00000313478 NM_017672.4 1427 tCt/tGt 0 Missense_Mutation G 33 TRPM7 SNP 15 G C 48671444 48671444 Broad RORA 6095 broad.mit.edu GRCh37 15 60824025 60824025 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000261523.5:c.321G>C p.Lys107Asn p.K107N ENST00000261523 NM_134260.2 107 aaG/aaC 0 Missense_Mutation C 32 RORA SNP 15 C G 58611317 58611317 Broad KIAA1024 23251 broad.mit.edu GRCh37 15 79750095 79750095 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000305428.3:c.1606G>T p.Val536Leu p.V536L ENST00000305428 NM_015206.2 536 Gtg/Ttg 0 Missense_Mutation G 36 KIAA1024 SNP 15 G T 77537150 77537150 Broad AP3B2 8120 broad.mit.edu GRCh37 15 83330674 83330674 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000261722.3:c.2862C>T p.Cys954= p.C954= ENST00000261722 NM_004644.4 954 tgC/tgT 0 Silent G 46 AP3B2 SNP 15 G A 81127729 81127729 Broad TICRR 90381 broad.mit.edu GRCh37 15 90167091 90167091 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000268138.7:c.3550G>A p.Glu1184Lys p.E1184K ENST00000268138 1184 Gaa/Aaa 0 Missense_Mutation G 33 C15orf42 SNP 15 G A 87968095 87968095 Broad SRRM2 23524 broad.mit.edu GRCh37 16 2812191 2812191 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000301740.8:c.1662T>A p.Ser554= p.S554= ENST00000301740 NM_016333.3 554 tcT/tcA 0 Silent T 53 SRRM2 SNP 16 T A 2752192 2752192 Broad TBC1D10B 26000 broad.mit.edu GRCh37 16 30380578 30380578 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000409939.3:c.927C>T p.Phe309= p.F309= ENST00000409939 NM_015527.3 309 ttC/ttT 0 Silent G 41 TBC1D10B SNP 16 G A 30288079 30288079 Broad NLRC5 84166 broad.mit.edu GRCh37 16 57101303 57101303 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000262510.6:c.4327G>C p.Ala1443Pro p.A1443P ENST00000262510 NM_032206.4 1443 Gct/Cct 0 Missense_Mutation G 42 NLRC5 SNP 16 G C 55658804 55658804 Broad ACD 65057 broad.mit.edu GRCh37 16 67694099 67694099 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000393919.4:c.283C>G p.Leu95Val p.L95V ENST00000393919 95 Cta/Gta 0 Missense_Mutation G 35 ACD SNP 16 G C 66251600 66251600 Broad RANBP10 57610 broad.mit.edu GRCh37 16 67778293 67778293 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000317506.3:c.466G>A p.Gly156Ser p.G156S ENST00000317506 NM_020850.1 156 Ggc/Agc 0 Missense_Mutation C 21 RANBP10 SNP 16 C T 66335794 66335794 Broad CNTNAP4 85445 broad.mit.edu GRCh37 16 76528870 76528870 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000478060.1:c.1925C>G p.Ser642Cys p.S642C ENST00000478060 NM_138994.3 642 tCt/tGt 0 Missense_Mutation C 32 CNTNAP4 SNP 16 C G 75086371 75086371 Broad ALOX15 246 broad.mit.edu GRCh37 17 4542416 4542416 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000570836.1:c.349G>T p.Gly117Cys p.G117C ENST00000570836 117 Ggc/Tgc 0 Missense_Mutation C 22 ALOX15 SNP 17 C A 4489165 4489165 Broad ZMYND15 84225 broad.mit.edu GRCh37 17 4648646 4648646 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000573751.2:c.2057G>C p.Arg686Thr p.R686T ENST00000573751 686 aGa/aCa 0 Missense_Mutation G 33 ZMYND15 SNP 17 G C 4595395 4595395 Broad MYH4 4622 broad.mit.edu GRCh37 17 10346815 10346815 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000255381.2:c.5697G>T p.Lys1899Asn p.K1899N ENST00000255381 NM_017533.2 1899 aaG/aaT 0 Missense_Mutation C 20 MYH4 SNP 17 C A 10287540 10287540 Broad FAM222B 55731 broad.mit.edu GRCh37 17 27086227 27086227 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000341217.5:c.750C>A p.Pro250= p.P250= ENST00000341217 NM_001288633.1 250 ccC/ccA 0 Missense_Mutation G 43 C17orf63 SNP 17 G T 24110354 24110354 Broad CYGB 114757 broad.mit.edu GRCh37 17 74527692 74527692 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000293230.5:c.225C>A p.Ser75Arg p.S75R ENST00000293230 NM_134268.4 75 agC/agA 0 Missense_Mutation G 42 CYGB SNP 17 G T 72039287 72039287 Broad ANKRD12 23253 broad.mit.edu GRCh37 18 9256624 9256624 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000262126.4:c.3359T>C p.Ile1120Thr p.I1120T ENST00000262126 NM_015208.4 1120 aTa/aCa 0 Missense_Mutation T 49 ANKRD12 SNP 18 T C 9246624 9246624 Broad RIOK3 8780 broad.mit.edu GRCh37 18 21044582 21044582 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000339486.3:c.533G>C p.Arg178Thr p.R178T ENST00000339486 NM_003831.3 178 aGa/aCa 0 Missense_Mutation G 33 RIOK3 SNP 18 G C 19298580 19298580 Broad CDH20 28316 broad.mit.edu GRCh37 18 59157965 59157965 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000262717.4:c.179G>C p.Ser60Thr p.S60T ENST00000262717 60 aGc/aCc 0 Missense_Mutation G 34 CDH20 SNP 18 G C 57308945 57308945 Broad FAM69C 125704 broad.mit.edu GRCh37 18 72103739 72103739 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000343998.6:c.1257G>T p.Lys419Asn p.K419N ENST00000343998 NM_001044369.2 419 aaG/aaT 0 Missense_Mutation C 20 FAM69C SNP 18 C A 70254719 70254719 Broad EBI3 10148 broad.mit.edu GRCh37 19 4229575 4229575 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000221847.5:c.28G>C p.Val10Leu p.V10L ENST00000221847 NM_005755.2 10 Gtc/Ctc 0 Missense_Mutation G 48 EBI3 SNP 19 G C 4180575 4180575 Broad TIMM44 10469 broad.mit.edu GRCh37 19 7992971 7992971 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000270538.3:c.1119C>T p.Asp373= p.D373= ENST00000270538 NM_006351.3 373 gaC/gaT 0 Silent G 48 TIMM44 SNP 19 G A 7898971 7898971 Broad ZNF121 7675 broad.mit.edu GRCh37 19 9677491 9677491 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000320451.6:c.298C>T p.Gln100Ter p.Q100* ENST00000320451 NM_001008727.2 100 Cag/Tag 0 Nonsense_Mutation G 45 ZNF121 SNP 19 G A 9538491 9538491 Broad OLFM2 93145 broad.mit.edu GRCh37 19 9965216 9965216 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000264833.4:c.1011C>G p.Thr337= p.T337= ENST00000264833 NM_058164.2 337 acC/acG 0 Silent G 47 OLFM2 SNP 19 G C 9826216 9826216 Broad TYK2 7297 broad.mit.edu GRCh37 19 10473303 10473303 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000525621.1:c.1398C>T p.Pro466= p.P466= ENST00000525621 NM_003331.4 466 ccC/ccT 0 Silent G 39 TYK2 SNP 19 G A 10334303 10334303 Broad IL27RA 9466 broad.mit.edu GRCh37 19 14162431 14162431 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000263379.2:c.1541G>T p.Arg514Met p.R514M ENST00000263379 NM_004843.3 514 aGg/aTg 0 Missense_Mutation G 35 IL27RA SNP 19 G T 14023431 14023431 Broad CILP2 148113 broad.mit.edu GRCh37 19 19656673 19656673 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000291495.5:c.3319C>A p.Pro1107Thr p.P1107T ENST00000291495 NM_153221.2 1107 Cca/Aca 0 Missense_Mutation C 26 CILP2 SNP 19 C A 19517673 19517673 Broad ANKRD27 84079 broad.mit.edu GRCh37 19 33110432 33110432 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000306065.4:c.1855C>G p.Leu619Val p.L619V ENST00000306065 NM_032139.2 619 Ctg/Gtg 0 Missense_Mutation G 35 ANKRD27 SNP 19 G C 37802272 37802272 Broad WDR88 126248 broad.mit.edu GRCh37 19 33642161 33642161 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000355868.3:c.754A>T p.Arg252Trp p.R252W ENST00000355868 NM_173479.3 252 Agg/Tgg 0 Missense_Mutation A 7 WDR88 SNP 19 A T 38334001 38334001 Broad ZNF345 25850 broad.mit.edu GRCh37 19 37368496 37368496 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000529555.1:c.764A>T p.Glu255Val p.E255V ENST00000529555 255 gAg/gTg 0 Missense_Mutation A 11 ZNF345 SNP 19 A T 42060336 42060336 Broad ADCY3 109 broad.mit.edu GRCh37 2 25141784 25141784 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000260600.5:c.73C>T p.Pro25Ser p.P25S ENST00000260600 NM_004036.3 25 Ccc/Tcc 0 Missense_Mutation G 42 ADCY3 SNP 2 G A 24995288 24995288 Broad POMC 5443 broad.mit.edu GRCh37 2 25387508 25387508 + splice_donor_variant Splice_Site SNP A A C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000405623.1:c.132+2T>G p.X44_splice ENST00000405623 0 Splice_Site_SNP A 14 POMC SNP 2 A C 25241012 25241012 Broad PLB1 151056 broad.mit.edu GRCh37 2 28814614 28814614 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000327757.5:c.2175G>C p.Leu725Phe p.L725F ENST00000327757 NM_153021.4 725 ttG/ttC 0 Missense_Mutation G 46 PLB1 SNP 2 G C 28668118 28668118 Broad SPR 6697 broad.mit.edu GRCh37 2 73118520 73118520 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000234454.5:c.640G>A p.Val214Met p.V214M ENST00000234454 NM_003124.4 214 Gtg/Atg 0 Missense_Mutation G 40 SPR SNP 2 G A 72972028 72972028 Broad ALMS1 7840 broad.mit.edu GRCh37 2 73646442 73646442 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000264448.6:c.642G>T p.Leu214= p.L214= ENST00000264448 NM_015120.4 214 ctG/ctT 0 Silent G 46 ALMS1 SNP 2 G T 73499950 73499950 Broad SH3RF3 344558 broad.mit.edu GRCh37 2 109964324 109964324 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000309415.6:c.768C>T p.His256= p.H256= ENST00000309415 NM_001099289.1 256 caC/caT 0 Silent C 19 SH3RF3 SNP 2 C T 109330756 109330756 Broad SCN3A 6328 broad.mit.edu GRCh37 2 165952156 165952156 + splice_region_variant,synonymous_variant Splice_Region SNP A A G novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000283254.7:c.4296T>C p.Val1432= p.V1432= ENST00000283254 NM_001081676.1 1432 gtT/gtC 0 Silent A 13 SCN3A SNP 2 A G 165660402 165660402 Broad DNAH7 56171 broad.mit.edu GRCh37 2 196740466 196740466 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000312428.6:c.6219T>C p.Tyr2073= p.Y2073= ENST00000312428 NM_018897.2 2073 taT/taC 0 Silent A 8 DNAH7 SNP 2 A G 196448711 196448711 Broad MAP2 4133 broad.mit.edu GRCh37 2 210518128 210518128 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000360351.4:c.234G>A p.Glu78= p.E78= ENST00000360351 NM_002374.3 78 gaG/gaA 0 Silent G 34 MAP2 SNP 2 G A 210226373 210226373 Broad RRBP1 6238 broad.mit.edu GRCh37 20 17641138 17641138 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000377807.2:c.15C>T p.Asp5= p.D5= ENST00000377807 NM_001042576.1 5 gaC/gaT 0 Silent G 48 RRBP1 SNP 20 G A 17589138 17589138 Broad C20orf26 26074 broad.mit.edu GRCh37 20 20243721 20243721 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000245957.5:c.2450A>T p.Glu817Val p.E817V ENST00000245957 NM_015585.3 817 gAg/gTg 0 Missense_Mutation A 11 C20orf26 SNP 20 A T 20191721 20191721 Broad SNAI1 6615 broad.mit.edu GRCh37 20 48600422 48600422 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000244050.2:c.144G>C p.Glu48Asp p.E48D ENST00000244050 NM_005985.3 48 gaG/gaC 0 Missense_Mutation G 33 SNAI1 SNP 20 G C 48033829 48033829 Broad PHACTR3 116154 broad.mit.edu GRCh37 20 58318189 58318189 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000371015.1:c.146G>A p.Arg49His p.R49H ENST00000371015 NM_080672.4 49 cGt/cAt 0 Missense_Mutation G 40 PHACTR3 SNP 20 G A 57751584 57751584 Broad MYT1 4661 broad.mit.edu GRCh37 20 62848515 62848515 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000328439.1:c.1727A>G p.Glu576Gly p.E576G ENST00000328439 NM_004535.2 576 gAg/gGg 0 Missense_Mutation A 11 MYT1 SNP 20 A G 62318959 62318959 Broad MICAL3 57553 broad.mit.edu GRCh37 22 18363984 18363984 + intron_variant Intron SNP T T C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000441493.2:c.2241+4660A>G *747* ENST00000441493 NM_015241.2 0 Missense_Mutation T 51 MICAL3 SNP 22 T C 16743984 16743984 Broad SF3A1 10291 broad.mit.edu GRCh37 22 30738210 30738210 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000215793.8:c.856G>T p.Asp286Tyr p.D286Y ENST00000215793 NM_005877.4 286 Gac/Tac 0 Missense_Mutation C 30 SF3A1 SNP 22 C A 29068210 29068210 Broad CELSR3 1951 broad.mit.edu GRCh37 3 48686226 48686226 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000164024.4:c.6703G>T p.Ala2235Ser p.A2235S ENST00000164024 NM_001407.2 2235 Gcc/Tcc 0 Missense_Mutation C 26 CELSR3 SNP 3 C A 48661230 48661230 Broad RBM6 10180 broad.mit.edu GRCh37 3 50095971 50095971 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000266022.4:c.2106C>G p.Gly702= p.G702= ENST00000266022 NM_005777.2 702 ggC/ggG 0 Silent C 28 RBM6 SNP 3 C G 50070975 50070975 Broad CADPS 8618 broad.mit.edu GRCh37 3 62518675 62518675 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000383710.4:c.2162T>A p.Val721Asp p.V721D ENST00000383710 NM_003716.3 721 gTc/gAc 0 Missense_Mutation A 10 CADPS SNP 3 A T 62493715 62493715 Broad CD80 941 broad.mit.edu GRCh37 3 119256010 119256010 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264246.3:c.674T>A p.Val225Glu p.V225E ENST00000264246 NM_005191.3 225 gTg/gAg 0 Missense_Mutation A 6 CD80 SNP 3 A T 120738700 120738700 Broad CD86 942 broad.mit.edu GRCh37 3 121822481 121822481 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000330540.2:c.187T>G p.Leu63Val p.L63V ENST00000330540 NM_175862.4 63 Ttg/Gtg 0 Missense_Mutation T 56 CD86 SNP 3 T G 123305171 123305171 Broad SLC12A8 84561 broad.mit.edu GRCh37 3 124909290 124909290 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000393469.4:c.127G>T p.Asp43Tyr p.D43Y ENST00000393469 NM_001195483.1 43 Gat/Tat 0 Missense_Mutation C 30 SLC12A8 SNP 3 C A 126391980 126391980 Broad MBD4 8930 broad.mit.edu GRCh37 3 129155468 129155468 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000249910.1:c.1019A>G p.Lys340Arg p.K340R ENST00000249910 340 aAa/aGa 0 Missense_Mutation T 64 MBD4 SNP 3 T C 130638158 130638158 Broad P2RY12 64805 broad.mit.edu GRCh37 3 151055941 151055941 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000302632.3:c.693G>T p.Arg231Ser p.R231S ENST00000302632 NM_022788.4 231 agG/agT 0 Missense_Mutation C 30 P2RY12 SNP 3 C A 152538631 152538631 Broad GPR149 344758 broad.mit.edu GRCh37 3 154147257 154147257 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000389740.2:c.148G>T p.Gly50Cys p.G50C ENST00000389740 NM_001038705.1 50 Ggc/Tgc 0 Missense_Mutation C 22 GPR149 SNP 3 C A 155629951 155629951 Broad LEKR1 389170 broad.mit.edu GRCh37 3 156763145 156763145 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000356539.4:c.1685A>G p.Glu562Gly p.E562G ENST00000356539 NM_001004316.2 562 gAg/gGg 0 Missense_Mutation A 11 LEKR1 SNP 3 A G 158245839 158245839 Broad TNIK 23043 broad.mit.edu GRCh37 3 170811744 170811744 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000436636.2:c.2605C>A p.Pro869Thr p.P869T ENST00000436636 NM_015028.2 869 Cca/Aca 0 Missense_Mutation G 41 TNIK SNP 3 G T 172294438 172294438 Broad FGFRL1 53834 broad.mit.edu GRCh37 4 1016193 1016193 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000398484.2:c.282C>T p.Ala94= p.A94= ENST00000398484 94 gcC/gcT 0 Silent C 23 FGFRL1 SNP 4 C T 1006193 1006193 Broad RBM47 54502 broad.mit.edu GRCh37 4 40440784 40440784 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000381793.2:c.127G>T p.Gly43Cys p.G43C ENST00000381793 43 Ggc/Tgc 0 Missense_Mutation C 22 RBM47 SNP 4 C A 40135541 40135541 Broad FGB 2244 broad.mit.edu GRCh37 4 155488794 155488794 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000302068.4:c.540A>G p.Gln180= p.Q180= ENST00000302068 NM_005141.4 180 caA/caG 0 Silent A 4 FGB SNP 4 A G 155708244 155708244 Broad BRD9 65980 broad.mit.edu GRCh37 5 865625 865625 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000467963.1:c.1597G>T p.Asp533Tyr p.D533Y ENST00000467963 NM_023924.4 533 Gac/Tac 0 Missense_Mutation C 30 BRD9 SNP 5 C A 918625 918625 Broad DROSHA 29102 broad.mit.edu GRCh37 5 31449423 31449423 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000344624.3:c.2786A>T p.Asp929Val p.D929V ENST00000344624 929 gAc/gTc 0 Missense_Mutation T 58 RNASEN SNP 5 T A 31485180 31485180 Broad NDST1 3340 broad.mit.edu GRCh37 5 149901054 149901054 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000261797.6:c.238C>T p.Arg80Cys p.R80C ENST00000261797 NM_001543.4 80 Cgc/Tgc 0 Missense_Mutation C 23 NDST1 SNP 5 C T 149881247 149881247 Broad FAT2 2196 broad.mit.edu GRCh37 5 150917475 150917475 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000261800.5:c.9072A>T p.Val3024= p.V3024= ENST00000261800 NM_001447.2 3024 gtA/gtT 0 Silent T 49 FAT2 SNP 5 T A 150897668 150897668 Broad SPARC 6678 broad.mit.edu GRCh37 5 151047084 151047084 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000231061.4:c.529A>T p.Thr177Ser p.T177S ENST00000231061 NM_003118.3 177 Acc/Tcc 0 Missense_Mutation T 59 SPARC SNP 5 T A 151027277 151027277 Broad COL23A1 91522 broad.mit.edu GRCh37 5 177669341 177669341 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000390654.3:c.1494+1G>T p.X498_splice ENST00000390654 NM_173465.3 0 Splice_Site_SNP C 18 COL23A1 SNP 5 C A 177601947 177601947 Broad BEND3 57673 broad.mit.edu GRCh37 6 107390876 107390876 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000429433.2:c.1519G>A p.Asp507Asn p.D507N ENST00000429433 NM_001080450.2 507 Gac/Aac 0 Missense_Mutation C 31 BEND3 SNP 6 C T 107497569 107497569 Broad KIAA0408 9729 broad.mit.edu GRCh37 6 127768163 127768163 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000483725.3:c.1301G>A p.Arg434Lys p.R434K ENST00000483725 NM_014702.4 434 aGg/aAg 0 Missense_Mutation C 24 KIAA0408 SNP 6 C T 127809856 127809856 Broad TNFAIP3 7128 broad.mit.edu GRCh37 6 138199843 138199843 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000237289.4:c.1261C>G p.Leu421Val p.L421V ENST00000237289 NM_001270507.1 421 Ctg/Gtg 0 Missense_Mutation C 28 TNFAIP3 SNP 6 C G 138241536 138241536 Broad RBAK 57786 broad.mit.edu GRCh37 7 5104645 5104646 + missense_variant Missense_Mutation DNP TT TT AA novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 TT AA TT TT Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000396912.1:c.1558_1559inv p.Phe520Asn p.F520N ENST00000396912 NM_021163.3 520 TTc/AAc 0 Missense_Mutation TT 56 RBAK DNP 7 TT AA 5071172 5071171 Broad VPS41 27072 broad.mit.edu GRCh37 7 38812121 38812121 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000310301.4:c.1128+1G>A p.X376_splice ENST00000310301 NM_014396.3 0 Splice_Site_SNP C 20 VPS41 SNP 7 C T 38778646 38778646 Broad PPP1R3A 5506 broad.mit.edu GRCh37 7 113519908 113519908 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000284601.3:c.1239A>T p.Gly413= p.G413= ENST00000284601 NM_002711.3 413 ggA/ggT 0 Silent T 54 PPP1R3A SNP 7 T A 113307144 113307144 Broad IMPDH1 3614 broad.mit.edu GRCh37 7 128038521 128038521 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000338791.6:c.1021G>A p.Asp341Asn p.D341N ENST00000338791 NM_000883.3 341 Gac/Aac 0 Missense_Mutation C 29 IMPDH1 SNP 7 C T 127825757 127825757 Broad MKLN1 4289 broad.mit.edu GRCh37 7 131155683 131155683 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000352689.6:c.2011G>C p.Asp671His p.D671H ENST00000352689 NM_013255.4 671 Gac/Cac 0 Missense_Mutation G 33 MKLN1 SNP 7 G C 130806223 130806223 Broad CNPY1 285888 broad.mit.edu GRCh37 7 155299769 155299769 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000321736.5:c.187C>T p.Leu63Phe p.L63F ENST00000321736 NM_001103176.1 63 Ctt/Ttt 0 Missense_Mutation G 36 CNPY1 SNP 7 G A 154992530 154992530 Broad SQLE 6713 broad.mit.edu GRCh37 8 126011654 126011654 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265896.5:c.9T>A p.Thr3= p.T3= ENST00000265896 NM_003129.3 3 acT/acA 0 Silent T 56 SQLE SNP 8 T A 126080835 126080835 Broad CTD-3064M3.7 broad.mit.edu GRCh37 8 142446070 142446070 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000606664.1:n.1426G>T *476* ENST00000606664 0 Missense_Mutation G 44 FLJ43860 SNP 8 G T 142515252 142515252 Broad SLC39A4 55630 broad.mit.edu GRCh37 8 145638009 145638009 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000301305.3:c.1857C>T p.Leu619= p.L619= ENST00000301305 NM_130849.3 619 ctC/ctT 0 Silent G 41 SLC39A4 SNP 8 G A 145608817 145608817 Broad TRPM6 140803 broad.mit.edu GRCh37 9 77370284 77370284 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000360774.1:c.4891A>G p.Lys1631Glu p.K1631E ENST00000360774 NM_017662.4 1631 Aaa/Gaa 0 Missense_Mutation T 63 TRPM6 SNP 9 T C 76560104 76560104 Broad PTGR1 22949 broad.mit.edu GRCh37 9 114345778 114345778 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000407693.2:c.469G>C p.Val157Leu p.V157L ENST00000407693 NM_001146108.1 157 Gtc/Ctc 0 Missense_Mutation C 20 PTGR1 SNP 9 C G 113385599 113385599 Broad LMX1B 4010 broad.mit.edu GRCh37 9 129455542 129455542 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000355497.5:c.681C>A p.Thr227= p.T227= ENST00000355497 NM_001174146.1 227 acC/acA 0 Silent C 21 LMX1B SNP 9 C A 128495363 128495363 Broad KLHL13 90293 broad.mit.edu GRCh37 X 117035823 117035823 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown x x x ENST00000539496.1:c.1462G>T p.Val488Leu p.V488L ENST00000539496 NM_001168299.1 488 Gtg/Ttg 0 Missense_Mutation C 17 KLHL13 SNP 23 C A 116919851 116919851 Broad DCAF12L2 340578 broad.mit.edu GRCh37 X 125298656 125298656 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000538699.1:c.1252G>T p.Val418Leu p.V418L ENST00000538699 NM_001013628.2 418 Gtg/Ttg 0 Missense_Mutation C 18 DCAF12L2 SNP 23 C A 125126337 125126337 Broad FAP 2191 broad.mit.edu GRCh37 2 163044874 163044910 + splice_acceptor_variant,intron_variant Splice_Site DEL CTAAAGGAAAAACAAAAAAAACAAGAATCTTTGATTG CTAAAGGAAAAACAAAAAAAACAAGAATCTTTGATTG - novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000188790.4:c.1620-37_1620-1del p.X540_splice ENST00000188790 NM_004460.2 0 Splice_Site_Del CTAAAGGAAAAACAAAAAAAACAAGAATCTTTGATTG 24 FAP DEL 2 - CTAAAGGAAAAACAAAAAAAACAAGAATCTTTGATTG 162753156 162753120 Broad UTP3 57050 broad.mit.edu GRCh37 4 71554419 71554431 + frameshift_variant Frame_Shift_Del DEL GGAGCAGCTAAGT GGAGCAGCTAAGT - novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000254803.2:c.27_39del p.Ala10GlnfsTer19 p.A10Qfs*19 ENST00000254803 NM_020368.2 9 GGAGCAGCTAAGTgg/gg 0 Frame_Shift_Del GGAGCAGCTAAGT 39 UTP3 DEL 4 - GGAGCAGCTAAGT 71773295 71773283 Broad GSTCD 79807 broad.mit.edu GRCh37 4 106755654 106755678 + frameshift_variant Frame_Shift_Del DEL GTGATTGAGCACTGTATCAAAACAC GTGATTGAGCACTGTATCAAAACAC - novel Unknown TCGA-13-1510-01 TCGA-13-1510-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000515279.1:c.1568_1592del p.Val523GlyfsTer38 p.V523Gfs*38 ENST00000515279 523 GTGATTGAGCACTGTATCAAAACACgg/gg 0 Frame_Shift_Del GTGATTGAGCACTGTATCAAAACAC 44 GSTCD DEL 4 - GTGATTGAGCACTGTATCAAAACAC 106975127 106975103 Broad ART3 419 hgsc.bcm.edu GRCh37 4 77003060 77003060 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000355810.4:c.153C>T p.Tyr51= p.Y51= ENST00000355810 NM_001130016.2 51 taC/taT 0 Silent C 19 ART3 SNP 4 C T 77222084 77222084 Baylor ATP13A4 84239 hgsc.bcm.edu GRCh37 3 193125105 193125105 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000342695.4:c.3375C>A p.Ala1125= p.A1125= ENST00000342695 NM_032279.2 1125 gcC/gcA 0 Silent G 39 ATP13A4 SNP 3 G T 194607799 194607799 Baylor CHRND 1144 hgsc.bcm.edu GRCh37 2 233394757 233394757 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000258385.3:c.728G>A p.Arg243His p.R243H ENST00000258385 NM_000751.2 243 cGc/cAc 0 Missense_Mutation G 38 CHRND SNP 2 G A 233103001 233103001 Baylor CIZ1 25792 hgsc.bcm.edu GRCh37 9 130942745 130942745 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393608.1:c.740C>G p.Pro247Arg p.P247R ENST00000393608 NM_012127.2 247 cCt/cGt 0 Missense_Mutation G 35 CIZ1 SNP 9 G C 129982566 129982566 Baylor COMMD3 23412 hgsc.bcm.edu GRCh37 10 22605357 22605357 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000376836.3:c.11C>T p.Ser4Leu p.S4L ENST00000376836 NM_012071.3 4 tCg/tTg 0 Missense_Mutation C 31 COMMD3 SNP 10 C T 22645363 22645363 Baylor COPS5 10987 hgsc.bcm.edu GRCh37 8 67974106 67974106 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357849.4:c.126G>T p.Ala42= p.A42= ENST00000357849 NM_006837.2 42 gcG/gcT 0 Silent C 31 COPS5 SNP 8 C A 68136660 68136660 Baylor DHX30 22907 hgsc.bcm.edu GRCh37 3 47888228 47888228 + missense_variant Missense_Mutation SNP G G A rs36045705 Unknown TCGA-25-1634-01 TCGA-25-1634-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000445061.1:c.1666G>A p.Val556Ile p.V556I ENST00000445061 NM_138615.2 556 Gtc/Atc 0 Missense_Mutation G 40 DHX30 SNP 3 G A 47863232 47863232 Baylor EGFR 1956 hgsc.bcm.edu GRCh37 7 55259452 55259452 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000275493.2:c.2510A>T p.Asp837Val p.D837V ENST00000275493 NM_005228.3 837 gAc/gTc 0 Missense_Mutation A 10 EGFR SNP 7 A T 55226946 55226946 Baylor EIF3E 3646 hgsc.bcm.edu GRCh37 8 109215225 109215225 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000220849.5:c.1286del p.Asn429IlefsTer21 p.N429Ifs*21 ENST00000220849 NM_001568.2 429 aAt/at 0 Indel T 52 EIF3E Indel 8 T - 109284401 109284401 Baylor FERD3L 222894 hgsc.bcm.edu GRCh37 7 19184746 19184747 + inframe_insertion In_Frame_Ins INS - - TCT rs34966908 Unknown TCGA-25-1634-01 TCGA-25-1634-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000275461.3:c.237_239dupAGA p.Glu81dup p.E81dup ENST00000275461 NM_152898.2 80 gag/gaAGAg 0 In_Frame_Ins - 24 FERD3L INS 7 - TCT 19151272 19151271 Baylor GBP5 115362 hgsc.bcm.edu GRCh37 1 89730613 89730613 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000343435.5:c.905T>A p.Ile302Asn p.I302N ENST00000343435 NM_001134486.2 302 aTc/aAc 0 Missense_Mutation A 12 GBP5 SNP 1 A T 89503201 89503201 Baylor GDPD5 81544 hgsc.bcm.edu GRCh37 11 75188687 75188687 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000336898.3:c.94C>T p.Arg32Cys p.R32C ENST00000336898 NM_030792.6 32 Cgc/Tgc 0 Missense_Mutation G 38 GDPD5 SNP 11 G A 74866335 74866335 Baylor GPRC6A 222545 hgsc.bcm.edu GRCh37 6 117130582 117130582 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000310357.3:c.393T>C p.Cys131= p.C131= ENST00000310357 NM_148963.2 131 tgT/tgC 0 Silent A 6 GPRC6A SNP 6 A G 117237275 117237275 Baylor GPRIN2 9721 hgsc.bcm.edu GRCh37 10 46999863 46999863 + missense_variant Missense_Mutation SNP C C G rs4445576 Unknown TCGA-25-1634-01 TCGA-25-1634-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000374314.4:c.983C>G p.Ser328Cys p.S328C ENST00000374314 328 tCc/tGc 0 Missense_Mutation C 30 GPRIN2 SNP 10 C G 46419869 46419869 Baylor GSN 2934 hgsc.bcm.edu GRCh37 9 124094799 124094799 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373818.4:c.2267T>C p.Phe756Ser p.F756S ENST00000373818 NM_000177.4 756 tTt/tCt 0 Missense_Mutation T 64 GSN SNP 9 T C 123134620 123134620 Baylor INHBA 3624 hgsc.bcm.edu GRCh37 7 41729297 41729297 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000242208.4:c.1232del p.Ile411ThrfsTer8 p.I411Tfs*8 ENST00000242208 NM_002192.2 411 aTc/ac 0 Frame_Shift_Del A 12 INHBA DEL 7 A - 41695822 41695822 Baylor KLF6 1316 hgsc.bcm.edu GRCh37 10 3824281 3824281 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000497571.1:c.228A>G p.Glu76= p.E76= ENST00000497571 NM_001300.5 76 gaA/gaG 0 Silent T 52 KLF6 SNP 10 T C 3814281 3814281 Baylor L3MBTL1 26013 hgsc.bcm.edu GRCh37 20 42168808 42168808 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000427442.2:c.2125G>A p.Val709Met p.V709M ENST00000427442 709 Gtg/Atg 0 Missense_Mutation G 40 L3MBTL SNP 20 G A 41602222 41602222 Baylor MCM4 4173 hgsc.bcm.edu GRCh37 8 48882466 48882466 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262105.2:c.1283G>A p.Arg428His p.R428H ENST00000262105 NM_005914.3 428 cGt/cAt 0 Missense_Mutation G 40 MCM4 SNP 8 G A 49045019 49045019 Baylor MYH10 4628 hgsc.bcm.edu GRCh37 17 8415793 8415793 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000360416.3:c.2928del p.Met979CysfsTer12 p.M979Cfs*12 ENST00000360416 NM_001256012.1 976 aaG/aa 0 Frame_Shift_Del C 32 MYH10 DEL 17 C - 8356518 8356518 Baylor NBPF14 25832 hgsc.bcm.edu GRCh37 1 148009509 148009509 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000310701.10:c.1815G>A p.Gly606Arg p.G606R ENST00000310701 606 Ggg/Agg 0 Missense_Mutation C 23 NBPF14 SNP 1 C T 146476133 146476133 Baylor NUF2 83540 hgsc.bcm.edu GRCh37 1 163310216 163310216 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000271452.3:c.669G>C p.Leu223Phe p.L223F ENST00000271452 NM_145697.2 223 ttG/ttC 0 Missense_Mutation G 47 NUF2 SNP 1 G C 161576840 161576840 Baylor PNPLA8 50640 hgsc.bcm.edu GRCh37 7 108154999 108154999 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000422087.1:c.937T>G p.Leu313Val p.L313V ENST00000422087 NM_015723.3 313 Tta/Gta 0 Missense_Mutation A 4 PNPLA8 SNP 7 A C 107942235 107942235 Baylor RBL2 5934 hgsc.bcm.edu GRCh37 16 53498216 53498216 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262133.6:c.1639C>G p.Pro547Ala p.P547A ENST00000262133 NM_005611.3 547 Cct/Gct 0 Missense_Mutation C 30 RBL2 SNP 16 C G 52055717 52055717 Baylor RBM25 58517 hgsc.bcm.edu GRCh37 14 73576088 73576088 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261973.7:c.1580A>G p.Lys527Arg p.K527R ENST00000261973 NM_021239.2 527 aAg/aGg 0 Missense_Mutation A 3 RBM25 SNP 14 A G 72645841 72645841 Baylor RPS6KC1 26750 hgsc.bcm.edu GRCh37 1 213403885 213403885 + stop_gained,splice_region_variant Nonsense_Mutation SNP A A T novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000366960.3:c.1090A>T p.Lys364Ter p.K364* ENST00000366960 NM_012424.3 364 Aaa/Taa 0 Nonsense_Mutation A 1 RPS6KC1 SNP 1 A T 211470508 211470508 Baylor SCLT1 132320 hgsc.bcm.edu GRCh37 4 129960215 129960215 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000281142.5:c.271G>C p.Val91Leu p.V91L ENST00000281142 NM_144643.2 91 Gtc/Ctc 0 Missense_Mutation C 17 SCLT1 SNP 4 C G 130179665 130179665 Baylor SMOC2 64094 hgsc.bcm.edu GRCh37 6 169008908 169008908 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000354536.5:c.929del p.Arg310ProfsTer15 p.R310Pfs*15 ENST00000354536 NM_022138.2 310 cGc/cc 0 Frame_Shift_Del G 38 SMOC2 DEL 6 G - 168750833 168750833 Baylor TBX3 6926 hgsc.bcm.edu GRCh37 12 115115428 115115428 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000257566.3:c.898del p.Ala300GlnfsTer23 p.A300Qfs*23 ENST00000257566 NM_016569.3 300 Gca/ca 0 Frame_Shift_Del C 25 TBX3 DEL 12 C - 113599811 113599811 Baylor U2AF2 11338 hgsc.bcm.edu GRCh37 19 56179887 56179887 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000308924.4:c.757G>A p.Val253Met p.V253M ENST00000308924 253 Gtg/Atg 0 Missense_Mutation G 48 U2AF2 SNP 19 G A 60871699 60871699 Baylor WDFY3 23001 hgsc.bcm.edu GRCh37 4 85717847 85717847 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295888.4:c.2994A>T p.Glu998Asp p.E998D ENST00000295888 NM_014991.4 998 gaA/gaT 0 Missense_Mutation T 56 WDFY3 SNP 4 T A 85936871 85936871 Baylor ZNF286A 57335 hgsc.bcm.edu GRCh37 17 15611544 15611544 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1634-01 TCGA-25-1634-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000413242.2:c.317C>T p.Pro106Leu p.P106L ENST00000413242 106 cCc/cTc 0 Missense_Mutation C 22 ZNF286A SNP 17 C T 15552269 15552269 Baylor MINK1 50488 genome.wustl.edu GRCh37 17 4799859 4799860 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000355280.6:c.3757dup p.Glu1253GlyfsTer19 p.E1253Gfs*19 ENST00000355280 NM_001024937.3 1251 tgg/tGgg 0 Frame_Shift_Ins - 59 MINK1 INS 17 - G 4740636 4740635 WashU CHD5 26038 genome.wustl.edu GRCh37 1 6206923 6206924 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000262450.3:c.1391dup p.Leu465ThrfsTer28 p.L465Tfs*28 ENST00000262450 NM_015557.2 464 cca/ccCa 0 Frame_Shift_Ins - 59 CHD5 INS 1 - G 6129511 6129510 WashU MYH13 8735 genome.wustl.edu GRCh37 17 10216067 10216068 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000418404.3:c.4188dupA p.Leu1397ThrfsTer74 p.L1397Tfs*74 ENST00000418404 1396 -/A 0 Frame_Shift_Ins - 36 MYH13 INS 17 - T 10156793 10156792 WashU GALNT15 117248 genome.wustl.edu GRCh37 3 16217061 16217062 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000339732.5:c.409dup p.Ala137GlyfsTer2 p.A137Gfs*2 ENST00000339732 NM_054110.4 135 tgg/tGgg 0 Frame_Shift_Ins - 55 GALNTL2 INS 3 - G 16192066 16192065 WashU ZNF736 728927 genome.wustl.edu GRCh37 7 63808785 63808786 + frameshift_variant Frame_Shift_Del DEL TG TG - novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 TG TG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000423484.2:c.545_546del p.Cys182Ter p.C182* ENST00000423484 182 TGt/t 0 Frame_Shift_Del TG 55 LOC728927 DEL 7 TG - 63446221 63446220 WashU PSD 5662 genome.wustl.edu GRCh37 10 104176573 104176574 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000020673.5:c.222dupC p.Ser75LeufsTer127 p.S75Lfs*127 ENST00000020673 NM_001270966.1 74 -/C 0 Frame_Shift_Ins - 11 PSD INS 10 - G 104166564 104166563 WashU LINC00443 100874173 genome.wustl.edu GRCh37 13 107316292 107316293 + intron_variant,non_coding_transcript_variant Intron INS - - A novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000421601.2:n.240-4696dup *80* ENST00000421601 0 Frame_Shift_Ins - 53 LOC390424 INS 13 - A 106114294 106114293 WashU CEP164 22897 genome.wustl.edu GRCh37 11 117222685 117222686 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000278935.3:c.381dup p.Lys128GlnfsTer77 p.K128Qfs*77 ENST00000278935 NM_014956.4 125 gac/gaCc 0 Frame_Shift_Ins - 10 CEP164 INS 11 - C 116727896 116727895 WashU ACTL8 81569 genome.wustl.edu GRCh37 1 18153008 18153008 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375406.1:c.1095G>A p.Arg365= p.R365= ENST00000375406 NM_030812.2 365 agG/agA 0 Silent G 41 ACTL8 SNP 1 G A 18025595 18025595 WashU IVNS1ABP 10625 genome.wustl.edu GRCh37 1 185267296 185267296 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367498.3:c.1800G>C p.Gly600= p.G600= ENST00000367498 NM_006469.4 600 ggG/ggC 0 Silent C 30 IVNS1ABP SNP 1 C G 183533919 183533919 WashU ARID4B 51742 genome.wustl.edu GRCh37 1 235344929 235344929 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264183.3:c.3305A>G p.Asn1102Ser p.N1102S ENST00000264183 NM_016374.5 1102 aAt/aGt 0 Missense_Mutation T 52 ARID4B SNP 1 T C 233411552 233411552 WashU KMO 8564 genome.wustl.edu GRCh37 1 241753389 241753389 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366559.4:c.1174T>G p.Ser392Ala p.S392A ENST00000366559 NM_003679.4 392 Tcg/Gcg 0 Missense_Mutation T 50 KMO SNP 1 T G 239820012 239820012 WashU NHLRC2 374354 genome.wustl.edu GRCh37 10 115668208 115668208 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369301.3:c.2094G>A p.Met698Ile p.M698I ENST00000369301 NM_198514.3 698 atG/atA 0 Missense_Mutation G 45 NHLRC2 SNP 10 G A 115658198 115658198 WashU KIAA1462 57608 genome.wustl.edu GRCh37 10 30317348 30317348 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375377.1:c.1729G>T p.Glu577Ter p.E577* ENST00000375377 NM_020848.2 577 Gag/Tag 0 Nonsense_Mutation C 31 KIAA1462 SNP 10 C A 30357354 30357354 WashU KIF5B 3799 genome.wustl.edu GRCh37 10 32329377 32329377 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302418.4:c.223G>A p.Glu75Lys p.E75K ENST00000302418 NM_004521.2 75 Gaa/Aaa 0 Missense_Mutation C 29 KIF5B SNP 10 C T 32369383 32369383 WashU RASSF4 83937 genome.wustl.edu GRCh37 10 45467201 45467201 + intron_variant Intron SNP G G A novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340258.5:c.63-20G>A *21* ENST00000340258 NM_032023.3 0 Missense_Mutation G 48 RASSF4 SNP 10 G A 44787207 44787207 WashU C11orf40 143501 genome.wustl.edu GRCh37 11 4594688 4594688 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307616.1:c.156T>C p.Asn52= p.N52= ENST00000307616 NM_144663.1 52 aaT/aaC 0 Silent A 16 C11orf40 SNP 11 A G 4551264 4551264 WashU OR4C16 219428 genome.wustl.edu GRCh37 11 55339859 55339859 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314634.3:c.256A>T p.Lys86Ter p.K86* ENST00000314634 NM_001004701.2 86 Aag/Tag 0 Nonsense_Mutation A 9 OR4C16 SNP 11 A T 55096435 55096435 WashU OR10Q1 219960 genome.wustl.edu GRCh37 11 57995922 57995922 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316770.2:c.426C>T p.Arg142= p.R142= ENST00000316770 NM_001004471.2 142 cgC/cgT 0 Silent G 38 OR10Q1 SNP 11 G A 57752498 57752498 WashU FERMT3 83706 genome.wustl.edu GRCh37 11 63988554 63988554 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000279227.5:c.1624C>T p.Arg542Cys p.R542C ENST00000279227 NM_178443.2 542 Cgc/Tgc 0 Missense_Mutation C 27 FERMT3 SNP 11 C T 63745130 63745130 WashU MAML2 84441 genome.wustl.edu GRCh37 11 95825655 95825655 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000524717.1:c.1540A>G p.Met514Val p.M514V ENST00000524717 NM_032427.1 514 Atg/Gtg 0 Missense_Mutation T 51 MAML2 SNP 11 T C 95465303 95465303 WashU CNTN5 53942 genome.wustl.edu GRCh37 11 100061892 100061892 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000524871.1:c.1615C>G p.Leu539Val p.L539V ENST00000524871 NM_014361.3 539 Cta/Gta 0 Missense_Mutation C 24 CNTN5 SNP 11 C G 99567102 99567102 WashU GCN1L1 10985 genome.wustl.edu GRCh37 12 120595680 120595680 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300648.6:c.3060C>T p.Pro1020= p.P1020= ENST00000300648 NM_006836.1 1020 ccC/ccT 0 Silent G 47 GCN1L1 SNP 12 G A 119080063 119080063 WashU WBP11 51729 genome.wustl.edu GRCh37 12 14946790 14946790 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261167.2:c.788A>G p.Asp263Gly p.D263G ENST00000261167 NM_016312.2 263 gAt/gGt 0 Missense_Mutation T 50 WBP11 SNP 12 T C 14838057 14838057 WashU HOXC4 3221 genome.wustl.edu GRCh37 12 54447926 54447926 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000430889.2:c.220G>C p.Gly74Arg p.G74R ENST00000430889 NM_153633.2 74 Ggg/Cgg 0 Missense_Mutation G 43 HOXC4 SNP 12 G C 52734193 52734193 WashU TMTC2 160335 genome.wustl.edu GRCh37 12 83081385 83081385 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321196.3:c.20G>T p.Ser7Ile p.S7I ENST00000321196 NM_152588.1 7 aGc/aTc 0 Missense_Mutation G 34 TMTC2 SNP 12 G T 81605516 81605516 WashU PDS5B 23047 genome.wustl.edu GRCh37 13 33330035 33330035 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315596.10:c.2997G>T p.Leu999Phe p.L999F ENST00000315596 NM_015032.3 999 ttG/ttT 0 Missense_Mutation G 47 PDS5B SNP 13 G T 32228035 32228035 WashU GAN 8139 genome.wustl.edu GRCh37 16 81385238 81385238 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000568107.2:c.218T>C p.Ile73Thr p.I73T ENST00000568107 NM_022041.3 73 aTt/aCt 0 Missense_Mutation T 52 GAN SNP 16 T C 79942739 79942739 WashU HSD17B2 3294 genome.wustl.edu GRCh37 16 82131895 82131895 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000199936.4:c.1018C>T p.Pro340Ser p.P340S ENST00000199936 NM_002153.2 340 Cca/Tca 0 Missense_Mutation C 26 HSD17B2 SNP 16 T T 80689396 80689396 WashU BECN1 8678 genome.wustl.edu GRCh37 17 40962917 40962917 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361523.4:c.1214A>G p.Asp405Gly p.D405G ENST00000361523 NM_003766.3 405 gAc/gGc 0 Missense_Mutation T 58 BECN1 SNP 17 C C 38216443 38216443 WashU BCAS3 54828 genome.wustl.edu GRCh37 17 59161887 59161887 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390652.5:c.2432A>T p.Asp811Val p.D811V ENST00000390652 NM_001099432.1 811 gAt/gTt 0 Missense_Mutation A 12 BCAS3 SNP 17 T T 56516669 56516669 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577565 7577565 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.716A>G p.Asn239Ser p.N239S ENST00000269305 NM_001126112.2 239 aAc/aGc 0 Missense_Mutation T 60 TP53 SNP 17 T C 7518290 7518290 WashU RPL36AP51 genome.wustl.edu GRCh37 19 21416235 21416235 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000487216.1:n.99G>C *33* ENST00000487216 0 Silent G 48 LOC649299 SNP 19 G C 21208075 21208075 WashU THOP1 7064 genome.wustl.edu GRCh37 19 2794857 2794857 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307741.6:c.325G>A p.Asp109Asn p.D109N ENST00000307741 NM_003249.3 109 Gac/Aac 0 Missense_Mutation G 37 THOP1 SNP 19 G A 2745857 2745857 WashU C19orf48 84798 genome.wustl.edu GRCh37 19 51301634 51301634 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000598463.1:c.72G>A p.Gly24= p.G24= ENST00000598463 24 ggG/ggA 0 Silent C 26 C19orf48 SNP 19 C T 55993446 55993446 WashU FHL2 2274 genome.wustl.edu GRCh37 2 105990124 105990124 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358129.4:c.223C>T p.Leu75= p.L75= ENST00000358129 NM_201555.1 75 Ctg/Ttg 0 Silent G 36 FHL2 SNP 2 G A 105356556 105356556 WashU NEB 4703 genome.wustl.edu GRCh37 2 152409234 152409234 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397345.3:c.19788T>C p.Asp6596= p.D6596= ENST00000397345 NM_001164508.1 6596 gaT/gaC 0 Silent A 16 NEB SNP 2 A G 152117480 152117480 WashU TTN 7273 genome.wustl.edu GRCh37 2 179579191 179579191 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.26310C>T p.Phe8770= p.F8770= ENST00000589042 NM_001267550.1 8770 ttC/ttT 0 Silent G 45 TTN SNP 2 G A 179287436 179287436 WashU CCDC141 285025 genome.wustl.edu GRCh37 2 179718332 179718332 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000420890.2:c.3080A>T p.Asp1027Val p.D1027V ENST00000420890 NM_173648.3 1027 gAt/gTt 0 Missense_Mutation T 50 CCDC141 SNP 2 T A 179426577 179426577 WashU TUBA4A 7277 genome.wustl.edu GRCh37 2 220116426 220116426 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000248437.4:c.236G>A p.Arg79Gln p.R79Q ENST00000248437 NM_006000.2 79 cGa/cAa 0 Missense_Mutation C 31 TUBA4A SNP 2 C T 219824670 219824670 WashU MSH6 2956 genome.wustl.edu GRCh37 2 48028254 48028254 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000234420.5:c.3132C>G p.Tyr1044Ter p.Y1044* ENST00000234420 NM_000179.2 1044 taC/taG 0 Nonsense_Mutation C 17 MSH6 SNP 2 C G 47881758 47881758 WashU EPB41L1 2036 genome.wustl.edu GRCh37 20 34761810 34761810 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338074.2:c.111C>T p.His37= p.H37= ENST00000338074 NM_012156.2 37 caC/caT 0 Silent C 19 EPB41L1 SNP 20 C T 34225224 34225224 WashU SNX25 83891 genome.wustl.edu GRCh37 4 186267690 186267690 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000504273.1:c.1696-1G>A p.X566_splice ENST00000504273 0 Splice_Site_SNP G 36 SNX25 SNP 4 G A 186504684 186504684 WashU CAMK4 814 genome.wustl.edu GRCh37 5 110730457 110730457 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282356.4:c.436A>G p.Lys146Glu p.K146E ENST00000282356 NM_001744.4 146 Aaa/Gaa 0 Missense_Mutation A 13 CAMK4 SNP 5 A G 110758356 110758356 WashU COMMD10 51397 genome.wustl.edu GRCh37 5 115428328 115428328 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274458.4:c.330C>T p.Val110= p.V110= ENST00000274458 NM_016144.2 110 gtC/gtT 0 Silent C 29 COMMD10 SNP 5 C T 115456227 115456227 WashU CDX1 1044 genome.wustl.edu GRCh37 5 149562371 149562371 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000231656.8:c.486C>T p.Thr162= p.T162= ENST00000231656 NM_001804.2 162 acC/acT 0 Silent C 23 CDX1 SNP 5 C T 149542564 149542564 WashU IRX1 79192 genome.wustl.edu GRCh37 5 3599809 3599809 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302006.3:c.747C>T p.Ala249= p.A249= ENST00000302006 NM_024337.3 249 gcC/gcT 0 Silent C 23 IRX1 SNP 5 C T 3652809 3652809 WashU VARS2 57176 genome.wustl.edu GRCh37 6 30892146 30892146 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000541562.1:c.2572G>A p.Val858Met p.V858M ENST00000541562 NM_001167734.1 858 Gtg/Atg 0 Missense_Mutation G 40 VARS2 SNP 6 G A 31000125 31000125 WashU MSH5 4439 genome.wustl.edu GRCh37 6 31715210 31715210 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375703.3:c.812+1G>T p.X271_splice ENST00000375703 0 Splice_Site_SNP G 44 MSH5 SNP 6 G T 31823189 31823189 WashU VPS52 6293 genome.wustl.edu GRCh37 6 33231265 33231265 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000445902.2:c.1790C>G p.Thr597Arg p.T597R ENST00000445902 NM_022553.4 597 aCa/aGa 0 Missense_Mutation G 48 VPS52 SNP 6 G C 33339243 33339243 WashU RIOK1 83732 genome.wustl.edu GRCh37 6 7414604 7414604 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379834.2:c.1577A>G p.Asp526Gly p.D526G ENST00000379834 NM_031480.2 526 gAc/gGc 0 Missense_Mutation A 10 RIOK1 SNP 6 A G 7359603 7359603 WashU LRRC17 10234 genome.wustl.edu GRCh37 7 102579998 102579998 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339431.4:c.894C>T p.Asn298= p.N298= ENST00000339431 NM_001031692.2 298 aaC/aaT 0 Silent C 18 LRRC17 SNP 7 C T 102367234 102367234 WashU ZNF706 51123 genome.wustl.edu GRCh37 8 102213847 102213847 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000520347.1:c.123C>A p.Cys41Ter p.C41* ENST00000520347 41 tgC/tgA 0 Nonsense_Mutation G 46 ZNF706 SNP 8 G T 102283023 102283023 WashU CSMD3 114788 genome.wustl.edu GRCh37 8 113563048 113563048 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297405.5:c.4416G>C p.Trp1472Cys p.W1472C ENST00000297405 NM_198123.1 1472 tgG/tgC 0 Missense_Mutation C 22 CSMD3 SNP 8 C G 113632224 113632224 WashU PHF20L1 51105 genome.wustl.edu GRCh37 8 133816277 133816277 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395386.2:c.721G>T p.Gly241Ter p.G241* ENST00000395386 NM_016018.4 241 Gga/Tga 0 Nonsense_Mutation G 47 PHF20L1 SNP 8 G T 133885459 133885459 WashU MROH6 642475 genome.wustl.edu GRCh37 8 144654356 144654356 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398882.3:c.295-1G>C p.X99_splice ENST00000398882 NM_001100878.1 0 Splice_Site_SNP C 24 C8orf73 SNP 8 C G 144725499 144725499 WashU KCNU1 157855 genome.wustl.edu GRCh37 8 36661448 36661448 + intron_variant Intron SNP G G A novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399881.3:c.316-97G>A *106* ENST00000399881 NM_001031836.2 0 Silent G 40 uc010lvw.1 SNP 8 G A 36780606 36780606 WashU AKNA 80709 genome.wustl.edu GRCh37 9 117138616 117138616 + intron_variant Intron SNP C C G novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307564.4:c.1341+130G>C *447* ENST00000307564 NM_030767.4 0 Missense_Mutation C 22 AKNA SNP 9 G G 116178437 116178437 WashU RP11-350E12.5 645937 genome.wustl.edu GRCh37 9 90559231 90559231 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000427728.1:n.708C>T *236* ENST00000427728 0 Silent G 40 LOC645937 SNP 9 A A 89749051 89749051 WashU DMD 1756 genome.wustl.edu GRCh37 X 32583978 32583978 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357033.4:c.1833A>G p.Glu611= p.E611= ENST00000357033 NM_004007.2 611 gaA/gaG 0 Silent T 64 DMD SNP 23 T C 32493899 32493899 WashU SMC1A 8243 genome.wustl.edu GRCh37 X 53423416 53423416 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322213.4:c.2684G>A p.Arg895His p.R895H ENST00000322213 NM_001281463.1 895 cGt/cAt 0 Missense_Mutation C 19 SMC1A SNP 23 C T 53440141 53440141 WashU KIAA2022 340533 genome.wustl.edu GRCh37 X 73965420 73965420 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1464-01 TCGA-24-1464-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000055682.6:c.66G>A p.Gly22= p.G22= ENST00000055682 NM_001008537.2 22 ggG/ggA 0 Silent C 22 KIAA2022 SNP 23 C T 73882145 73882145 WashU AASDH 132949 hgsc.bcm.edu GRCh37 4 57220269 57220269 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000205214.6:c.1319delT p.Leu440TrpfsTer43 p.L440Wfs*43 ENST00000205214 NM_181806.2 440 tTg/tg 0 Frame_Shift_Del A 5 AASDH DEL 4 A - 56915026 56915026 Baylor ABT1 29777 hgsc.bcm.edu GRCh37 6 26598254 26598254 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000274849.1:c.354C>G p.Ala118= p.A118= ENST00000274849 NM_013375.3 118 gcC/gcG 0 Silent C 21 ABT1 SNP 6 C G 26706233 26706233 Baylor ADAMTS14 140766 hgsc.bcm.edu GRCh37 10 72520313 72520313 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373208.1:c.3385G>T p.Asp1129Tyr p.D1129Y ENST00000373208 NM_139155.2 1129 Gac/Tac 0 Missense_Mutation G 41 ADAMTS14 SNP 10 G T 72190319 72190319 Baylor AGTPBP1 23287 hgsc.bcm.edu GRCh37 9 88257774 88257774 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000376083.3:c.1150C>A p.His384Asn p.H384N ENST00000376083 NM_015239.2 384 Cac/Aac 0 Missense_Mutation G 48 AGTPBP1 SNP 9 G T 87447594 87447594 Baylor ASAP1 50807 hgsc.bcm.edu GRCh37 8 131165027 131165027 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357668.1:c.1035G>T p.Arg345Ser p.R345S ENST00000357668 345 agG/agT 0 Missense_Mutation C 30 ASAP1 SNP 8 C A 131234209 131234209 Baylor GPR75-ASB3 100302652 hgsc.bcm.edu GRCh37 2 53956675 53956675 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000352846.3:c.502C>T p.Leu168= p.L168= ENST00000352846 NM_001164165.1 168 Ctg/Ttg 0 Silent G 34 ASB3 SNP 2 G A 53810179 53810179 Baylor BRCA1 672 hgsc.bcm.edu GRCh37 17 41243899 41243900 + frameshift_variant Frame_Shift_Ins INS - - TAAGTTCT novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357654.3:c.3641_3648dup p.Ser1217ArgfsTer21 p.S1217Rfs*21 ENST00000357654 NM_007294.3 1216 -/AGAACTTA 0 Frame_Shift_Ins - 12 BRCA1 INS 17 - TAAGTTCT 38497426 38497425 Baylor CXCL13 10563 hgsc.bcm.edu GRCh37 4 78528991 78528991 + splice_donor_variant Splice_Site SNP T T G novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000286758.4:c.197+2T>G p.X66_splice ENST00000286758 NM_006419.2 0 Splice_Site_SNP T 57 CXCL13 SNP 4 T G 78748015 78748015 Baylor CYP2A13 1553 hgsc.bcm.edu GRCh37 19 41601813 41601813 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000330436.3:c.1452A>G p.Pro484= p.P484= ENST00000330436 NM_000766.4 484 ccA/ccG 0 Silent A 6 CYP2A13 SNP 19 A G 46293653 46293653 Baylor DPY19L2 283417 hgsc.bcm.edu GRCh37 12 63954300 63954300 + missense_variant Missense_Mutation SNP C C T rs12314553 Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000324472.4:c.2269G>A p.Val757Ile p.V757I ENST00000324472 NM_173812.4 757 Gtt/Att 0 Missense_Mutation C 18 DPY19L2 SNP 12 C T 62240567 62240567 Baylor ENAM 10117 hgsc.bcm.edu GRCh37 4 71509258 71509258 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000396073.3:c.2115T>A p.Asp705Glu p.D705E ENST00000396073 NM_031889.2 705 gaT/gaA 0 Missense_Mutation T 49 ENAM SNP 4 T A 71728122 71728122 Baylor FAM65A 79567 hgsc.bcm.edu GRCh37 16 67576923 67576923 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000422602.2:c.2294C>A p.Ser765Ter p.S765* ENST00000422602 NM_001193523.1 765 tCa/tAa 0 Nonsense_Mutation C 29 FAM65A SNP 16 C A 66134424 66134424 Baylor FAT2 2196 hgsc.bcm.edu GRCh37 5 150901462 150901462 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261800.5:c.10692G>C p.Leu3564= p.L3564= ENST00000261800 NM_001447.2 3564 ctG/ctC 0 Silent C 29 FAT2 SNP 5 C G 150881655 150881655 Baylor FUCA2 2519 hgsc.bcm.edu GRCh37 6 143825326 143825326 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000002165.6:c.476G>A p.Arg159Lys p.R159K ENST00000002165 NM_032020.4 159 aGg/aAg 0 Missense_Mutation C 24 FUCA2 SNP 6 C T 143867019 143867019 Baylor GART 2618 hgsc.bcm.edu GRCh37 21 34882122 34882122 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381831.3:c.2420delA p.Lys807ArgfsTer7 p.K807Rfs*7 ENST00000381831 NM_001136005.1 807 aAg/ag 0 Frame_Shift_Del T 56 GART DEL 21 T - 33803992 33803992 Baylor GBP6 163351 hgsc.bcm.edu GRCh37 1 89845978 89845978 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000370456.4:c.659C>T p.Pro220Leu p.P220L ENST00000370456 NM_198460.2 220 cCc/cTc 0 Missense_Mutation C 22 GBP6 SNP 1 C T 89618566 89618566 Baylor GRIN3A 116443 hgsc.bcm.edu GRCh37 9 104449422 104449422 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361820.3:c.760G>A p.Val254Ile p.V254I ENST00000361820 NM_133445.2 254 Gtc/Atc 0 Missense_Mutation C 17 GRIN3A SNP 9 C T 103489243 103489243 Baylor HERC5 51191 hgsc.bcm.edu GRCh37 4 89397041 89397041 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264350.3:c.1442C>T p.Ser481Phe p.S481F ENST00000264350 NM_016323.3 481 tCt/tTt 0 Missense_Mutation C 32 HERC5 SNP 4 C T 89616064 89616064 Baylor HNF1B 6928 hgsc.bcm.edu GRCh37 17 36093625 36093625 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000225893.4:c.734T>C p.Ile245Thr p.I245T ENST00000225893 NM_001165923.1 245 aTc/aCc 0 Missense_Mutation A 12 HNF1B SNP 17 G G 33167738 33167738 Baylor IRF2 3660 hgsc.bcm.edu GRCh37 4 185339692 185339692 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393593.3:c.358A>T p.Lys120Ter p.K120* ENST00000393593 NM_002199.3 120 Aag/Tag 0 Nonsense_Mutation T 61 IRF2 SNP 4 T A 185576686 185576686 Baylor ITGA3 3675 hgsc.bcm.edu GRCh37 17 48148246 48148246 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000007722.7:c.703T>C p.Ser235Pro p.S235P ENST00000007722 235 Tct/Cct 0 Missense_Mutation T 50 ITGA3 SNP 17 C C 45503245 45503245 Baylor VWA8 23078 hgsc.bcm.edu GRCh37 13 42385438 42385438 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379310.3:c.1986G>C p.Leu662= p.L662= ENST00000379310 NM_015058.1 662 ctG/ctC 0 Silent C 17 KIAA0564 SNP 13 C G 41283438 41283438 Baylor CCSER2 54462 hgsc.bcm.edu GRCh37 10 86259652 86259652 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000224756.8:c.2347T>G p.Phe783Val p.F783V ENST00000224756 NM_018999.2 783 Ttc/Gtc 0 Missense_Mutation T 56 FAM190B SNP 10 T G 86249632 86249632 Baylor KIF21B 23046 hgsc.bcm.edu GRCh37 1 200956256 200956256 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000422435.2:c.3482C>A p.Thr1161Asn p.T1161N ENST00000422435 NM_001252100.1 1161 aCc/aAc 0 Missense_Mutation G 44 KIF21B SNP 1 G T 199222879 199222879 Baylor KLK10 5655 hgsc.bcm.edu GRCh37 19 51519365 51519365 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000309958.3:c.317G>T p.Gly106Val p.G106V ENST00000309958 NM_002776.4 106 gGa/gTa 0 Missense_Mutation C 30 KLK10 SNP 19 C A 56211177 56211177 Baylor LGR6 59352 hgsc.bcm.edu GRCh37 1 202279332 202279332 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367278.3:c.1414G>T p.Glu472Ter p.E472* ENST00000367278 NM_001017403.1 472 Gag/Tag 0 Nonsense_Mutation G 41 LGR6 SNP 1 G T 200545955 200545955 Baylor MAML1 9794 hgsc.bcm.edu GRCh37 5 179193618 179193618 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000292599.3:c.1607A>G p.Lys536Arg p.K536R ENST00000292599 NM_014757.4 536 aAg/aGg 0 Missense_Mutation A 3 MAML1 SNP 5 A G 179126224 179126224 Baylor TAB3 257397 hgsc.bcm.edu GRCh37 X 30873227 30873227 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000378933.1:c.555G>A p.Met185Ile p.M185I ENST00000378933 NM_152787.3 185 atG/atA 0 Missense_Mutation C 25 TAB3 SNP 23 C T 30783148 30783148 Baylor MDN1 23195 hgsc.bcm.edu GRCh37 6 90358040 90358040 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000369393.3:c.16215T>G p.Phe5405Leu p.F5405L ENST00000369393 5405 ttT/ttG 0 Missense_Mutation A 5 MDN1 SNP 6 A C 90414761 90414761 Baylor MGAT5 4249 hgsc.bcm.edu GRCh37 2 135012017 135012017 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000409645.1:c.43G>C p.Gly15Arg p.G15R ENST00000409645 15 Ggc/Cgc 0 Missense_Mutation G 43 MGAT5 SNP 2 G C 134728487 134728487 Baylor MNS1 55329 hgsc.bcm.edu GRCh37 15 56736697 56736697 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000260453.3:c.631A>G p.Lys211Glu p.K211E ENST00000260453 NM_018365.2 211 Aaa/Gaa 0 Missense_Mutation T 64 MNS1 SNP 15 T C 54523989 54523989 Baylor PRSS38 339501 hgsc.bcm.edu GRCh37 1 228005071 228005071 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000366757.3:c.473C>T p.Thr158Ile p.T158I ENST00000366757 NM_183062.2 158 aCc/aTc 0 Missense_Mutation C 18 PRSS38 SNP 1 C T 226071694 226071694 Baylor MTTP 4547 hgsc.bcm.edu GRCh37 4 100516041 100516041 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000457717.1:c.909+1G>T p.X303_splice ENST00000457717 NM_000253.2 0 Splice_Site_SNP G 48 MTTP SNP 4 G T 100735064 100735064 Baylor MYH2 4620 hgsc.bcm.edu GRCh37 17 10440647 10440647 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000245503.5:c.1800C>A p.Asn600Lys p.N600K ENST00000245503 NM_017534.5 600 aaC/aaA 0 Missense_Mutation G 48 MYH2 SNP 17 T T 10381372 10381372 Baylor NKAP 79576 hgsc.bcm.edu GRCh37 X 119077253 119077253 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371410.3:c.316C>T p.Arg106Cys p.R106C ENST00000371410 NM_024528.3 106 Cgc/Tgc 0 Missense_Mutation G 38 NKAP SNP 23 G A 118961281 118961281 Baylor NRP2 8828 hgsc.bcm.edu GRCh37 2 206590770 206590770 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000360409.3:c.954G>A p.Trp318Ter p.W318* ENST00000360409 NM_003872.2 318 tgG/tgA 0 Nonsense_Mutation G 41 NRP2 SNP 2 G A 206299015 206299015 Baylor NUP188 23511 hgsc.bcm.edu GRCh37 9 131745578 131745578 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000372577.2:c.1803G>A p.Thr601= p.T601= ENST00000372577 NM_015354.2 601 acG/acA 0 Silent G 37 NUP188 SNP 9 G A 130785399 130785399 Baylor NVL 4931 hgsc.bcm.edu GRCh37 1 224415342 224415342 + missense_variant Missense_Mutation SNP A A G rs41271483 Unknown TCGA-25-1632-01 TCGA-25-1632-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000281701.6:c.2557T>C p.Ser853Pro p.S853P ENST00000281701 NM_002533.3 853 Tcc/Ccc 0 Missense_Mutation A 10 NVL SNP 1 A G 222481965 222481965 Baylor OGT 8473 hgsc.bcm.edu GRCh37 X 70757809 70757809 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373719.3:c.349C>T p.Arg117Cys p.R117C ENST00000373719 NM_181673.2 117 Cgt/Tgt 0 Missense_Mutation C 27 OGT SNP 23 C T 70674534 70674534 Baylor OMG 4974 hgsc.bcm.edu GRCh37 17 29622674 29622674 + synonymous_variant Silent SNP T T G novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000247271.4:c.676A>C p.Arg226= p.R226= ENST00000247271 NM_002544.4 226 Agg/Cgg 0 Silent T 55 OMG SNP 17 T G 26646800 26646800 Baylor OR51B5 282763 hgsc.bcm.edu GRCh37 11 5364542 5364558 + frameshift_variant Frame_Shift_Del DEL CAGCCCCAGGTCTGTGG CAGCCCCAGGTCTGTGG - novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 CAGCCCCAGGTCTGTGG CAGCCCCAGGTCTGTGG . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000300773.2:c.197_213delCCACAGACCTGGGGCTG p.Ala66GlyfsTer48 p.A66Gfs*48 ENST00000300773 NM_001005567.2 66 gCCACAGACCTGGGGCTG/g 0 Frame_Shift_Del CAGCCCCAGGTCTGTGG 21 OR51B5 DEL 11 CAGCCCCAGGTCTGTGG - 5321134 5321118 Baylor OR51I1 390063 hgsc.bcm.edu GRCh37 11 5461952 5461952 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000380211.1:c.793C>T p.Arg265Cys p.R265C ENST00000380211 NM_001005288.2 265 Cgc/Tgc 0 Missense_Mutation G 39 OR51I1 SNP 11 G A 5418528 5418528 Baylor PAN2 9924 hgsc.bcm.edu GRCh37 12 56718841 56718841 + synonymous_variant Silent SNP A A C novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000425394.2:c.1551T>G p.Ala517= p.A517= ENST00000425394 NM_001127460.2 517 gcT/gcG 0 Silent A 7 PAN2 SNP 12 A C 55005108 55005108 Baylor PDK1 5163 hgsc.bcm.edu GRCh37 2 173460655 173460655 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000282077.3:c.1269C>T p.Pro423= p.P423= ENST00000282077 423 ccC/ccT 0 Silent C 21 PDK1 SNP 2 C T 173168901 173168901 Baylor QARS1 5859 hgsc.bcm.edu GRCh37 3 49137481 49137481 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000306125.6:c.1208G>A p.Arg403Gln p.R403Q ENST00000306125 NM_001272073.1 403 cGg/cAg 0 Missense_Mutation C 23 QARS SNP 3 C T 49112485 49112485 Baylor SCPEP1 59342 hgsc.bcm.edu GRCh37 17 55065617 55065617 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262288.3:c.512A>G p.Lys171Arg p.K171R ENST00000262288 NM_021626.2 171 aAa/aGa 0 Missense_Mutation A 1 SCPEP1 SNP 17 A G 52420616 52420616 Baylor SECISBP2 79048 hgsc.bcm.edu GRCh37 9 91947874 91947874 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000375807.3:c.853G>A p.Ala285Thr p.A285T ENST00000375807 NM_024077.3 285 Gct/Act 0 Missense_Mutation G 38 SECISBP2 SNP 9 G A 91137694 91137694 Baylor SHROOM2 357 hgsc.bcm.edu GRCh37 X 9841753 9841753 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000380913.3:c.227G>A p.Gly76Asp p.G76D ENST00000380913 NM_001649.2 76 gGc/gAc 0 Missense_Mutation G 42 SHROOM2 SNP 23 G A 9801753 9801753 Baylor SLAMF1 6504 hgsc.bcm.edu GRCh37 1 160589601 160589601 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000302035.6:c.829delA p.Ser277AlafsTer54 p.S277Afs*54 ENST00000302035 NM_003037.2 277 Agc/gc 0 Frame_Shift_Del T 56 SLAMF1 DEL 1 T - 158856225 158856225 Baylor SLC18A1 6570 hgsc.bcm.edu GRCh37 8 20031929 20031929 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000440926.1:c.574C>G p.Leu192Val p.L192V ENST00000440926 NM_001135691.2 192 Cta/Gta 0 Missense_Mutation G 33 SLC18A1 SNP 8 G C 20076209 20076209 Baylor SLTM 79811 hgsc.bcm.edu GRCh37 15 59189413 59189413 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000380516.2:c.1128T>C p.Ser376= p.S376= ENST00000380516 NM_001013843.1 376 agT/agC 0 Silent A 6 SLTM SNP 15 A G 56976705 56976705 Baylor SPTBN1 6711 hgsc.bcm.edu GRCh37 2 54874342 54874342 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000356805.4:c.4941C>T p.Thr1647= p.T1647= ENST00000356805 NM_003128.2 1647 acC/acT 0 Silent C 23 SPTBN1 SNP 2 C T 54727846 54727846 Baylor SRPX2 27286 hgsc.bcm.edu GRCh37 X 99925848 99925848 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373004.3:c.1262T>A p.Ile421Asn p.I421N ENST00000373004 NM_014467.2 421 aTt/aAt 0 Missense_Mutation T 52 SRPX2 SNP 23 T A 99812504 99812504 Baylor STYK1 55359 hgsc.bcm.edu GRCh37 12 10783890 10783890 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000075503.3:c.205C>G p.Pro69Ala p.P69A ENST00000075503 NM_018423.2 69 Cca/Gca 0 Missense_Mutation G 41 STYK1 SNP 12 G C 10675157 10675157 Baylor TBL1X 6907 hgsc.bcm.edu GRCh37 X 9673064 9673064 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000217964.7:c.1146C>A p.Asn382Lys p.N382K ENST00000217964 NM_005647.3 382 aaC/aaA 0 Missense_Mutation C 17 TBL1X SNP 23 C A 9633064 9633064 Baylor TEX13B 56156 hgsc.bcm.edu GRCh37 X 107225184 107225184 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000302917.1:c.174G>T p.Glu58Asp p.E58D ENST00000302917 NM_031273.2 58 gaG/gaT 0 Missense_Mutation C 24 TEX13B SNP 23 C A 107111840 107111840 Baylor TMEM130 222865 hgsc.bcm.edu GRCh37 7 98452934 98452934 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000416379.2:c.732C>A p.Gly244= p.G244= ENST00000416379 244 ggC/ggA 0 Silent G 46 TMEM130 SNP 7 G T 98290870 98290870 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577539 7577539 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.742C>G p.Arg248Gly p.R248G ENST00000269305 NM_001126112.2 248 Cgg/Ggg 0 Missense_Mutation G 39 TP53 SNP 17 C C 7518264 7518264 Baylor TRPV6 55503 hgsc.bcm.edu GRCh37 7 142583147 142583147 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000359396.3:c.115C>A p.Leu39Met p.L39M ENST00000359396 NM_018646.4 39 Ctg/Atg 0 Missense_Mutation G 34 TRPV6 SNP 7 G T 142293269 142293269 Baylor PRSS58 136541 hgsc.bcm.edu GRCh37 7 141954986 141954986 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000552471.1:c.325A>T p.Thr109Ser p.T109S ENST00000552471 109 Aca/Tca 0 Missense_Mutation T 60 TRYX3 SNP 7 T A 141601463 141601463 Baylor XIRP1 165904 hgsc.bcm.edu GRCh37 3 39227664 39227664 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1632-01 TCGA-25-1632-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000340369.3:c.3273C>T p.Asp1091= p.D1091= ENST00000340369 NM_194293.2 1091 gaC/gaT 0 Silent G 40 XIRP1 SNP 3 G A 39202668 39202668 Baylor AKNAD1 254268 broad.mit.edu GRCh37 1 109394991 109394991 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000370001.3:c.296C>T p.Ala99Val p.A99V ENST00000370001 NM_152763.4 99 gCa/gTa 0 Missense_Mutation G 46 AKNAD1 SNP 1 G A 109196514 109196514 Broad CHRM3 1131 broad.mit.edu GRCh37 1 240071232 240071232 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000255380.4:c.481G>T p.Val161Phe p.V161F ENST00000255380 NM_000740.2 161 Gtc/Ttc 0 Missense_Mutation G 44 CHRM3 SNP 1 G T 238137855 238137855 Broad OR4A5 81318 broad.mit.edu GRCh37 11 51411670 51411670 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000319760.6:c.726N>G p.Thr242= p.T242= ENST00000319760 NM_001005272.3 242 acC/acG 0 Silent G 39 OR4A5 SNP 11 G C 51268246 51268246 Broad ST14 6768 broad.mit.edu GRCh37 11 130058087 130058087 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000278742.5:c.160C>T p.Arg54Cys p.R54C ENST00000278742 NM_021978.3 54 Cgc/Tgc 0 Missense_Mutation C 27 ST14 SNP 11 C T 129563297 129563297 Broad POLE2 5427 broad.mit.edu GRCh37 14 50140860 50140860 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000216367.5:c.398G>A p.Arg133Gln p.R133Q ENST00000216367 NM_002692.3 133 cGa/cAa 0 Missense_Mutation C 31 POLE2 SNP 14 C T 49210610 49210610 Broad TTYH2 94015 broad.mit.edu GRCh37 17 72249275 72249275 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000269346.4:c.1315C>T p.Arg439Cys p.R439C ENST00000269346 NM_032646.5 439 Cgc/Tgc 0 Missense_Mutation C 27 TTYH2 SNP 17 C T 69760870 69760870 Broad RTTN 25914 broad.mit.edu GRCh37 18 67684648 67684648 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000255674.6:c.6416C>G p.Ala2139Gly p.A2139G ENST00000255674 NM_173630.3 2139 gCt/gGt 0 Missense_Mutation G 34 RTTN SNP 18 G C 65835628 65835628 Broad RAVER1 125950 broad.mit.edu GRCh37 19 10431538 10431538 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000293677.6:c.1614G>A p.Leu538= p.L538= ENST00000293677 NM_133452.2 538 ctG/ctA 0 Silent C 21 RAVER1 SNP 19 C T 10292538 10292538 Broad LDLR 3949 broad.mit.edu GRCh37 19 11218140 11218140 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000558518.1:c.890A>G p.Asn297Ser p.N297S ENST00000558518 NM_001195798.1 297 aAc/aGc 0 Missense_Mutation A 2 LDLR SNP 19 A G 11079140 11079140 Broad DPF1 8193 broad.mit.edu GRCh37 19 38702963 38702963 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000355526.4:c.1131C>A p.Tyr377Ter p.Y377* ENST00000355526 NM_001135155.1 377 taC/taA 0 Nonsense_Mutation G 44 DPF1 SNP 19 G T 43394803 43394803 Broad CD79A 973 broad.mit.edu GRCh37 19 42383707 42383707 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000221972.3:c.482C>T p.Thr161Met p.T161M ENST00000221972 NM_021601.3 161 aCg/aTg 0 Missense_Mutation C 19 CD79A SNP 19 C T 47075547 47075547 Broad ITPRIPL1 150771 broad.mit.edu GRCh37 2 96992716 96992716 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000361124.4:c.371G>T p.Gly124Val p.G124V ENST00000361124 NM_178495.5 124 gGc/gTc 0 Missense_Mutation G 42 ITPRIPL1 SNP 2 G T 96356443 96356443 Broad CACNB4 785 broad.mit.edu GRCh37 2 152695844 152695844 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000539935.1:c.1352A>T p.Glu451Val p.E451V ENST00000539935 NM_001145798.1 451 gAa/gTa 0 Missense_Mutation T 62 CACNB4 SNP 2 T A 152404090 152404090 Broad SNAI1 6615 broad.mit.edu GRCh37 20 48604442 48604442 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000244050.2:c.644G>A p.Arg215His p.R215H ENST00000244050 NM_005985.3 215 cGt/cAt 0 Missense_Mutation G 40 SNAI1 SNP 20 G A 48037849 48037849 Broad GRIK1 2897 broad.mit.edu GRCh37 21 31023550 31023550 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000399907.1:c.842G>A p.Arg281Gln p.R281Q ENST00000399907 NM_000830.3 281 cGg/cAg 0 Missense_Mutation C 23 GRIK1 SNP 21 C T 29945421 29945421 Broad WDR4 10785 broad.mit.edu GRCh37 21 44270236 44270236 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000398208.2:c.1162C>T p.Arg388Trp p.R388W ENST00000398208 NM_001260476.1 388 Cgg/Tgg 0 Missense_Mutation G 38 WDR4 SNP 21 G A 43143305 43143305 Broad ADCY2 108 broad.mit.edu GRCh37 5 7802364 7802364 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000338316.4:c.2662G>A p.Val888Ile p.V888I ENST00000338316 NM_020546.2 888 Gtc/Atc 0 Missense_Mutation G 40 ADCY2 SNP 5 G A 7855364 7855364 Broad LNPEP 4012 broad.mit.edu GRCh37 5 96328796 96328796 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000231368.5:c.1209T>C p.Phe403= p.F403= ENST00000231368 NM_005575.2 403 ttT/ttC 0 Silent T 64 LNPEP SNP 5 T C 96354552 96354552 Broad DST 667 broad.mit.edu GRCh37 6 56496755 56496755 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000244364.6:c.2278C>A p.Leu760Met p.L760M ENST00000244364 NM_015548.4 760 Ctg/Atg 0 Missense_Mutation G 34 DST SNP 6 G T 56604714 56604714 Broad LATS1 9113 broad.mit.edu GRCh37 6 150001524 150001524 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000253339.5:c.2080C>T p.Arg694Cys p.R694C ENST00000253339 694 Cgt/Tgt 0 Missense_Mutation G 39 LATS1 SNP 6 G A 150043217 150043217 Broad DNAH11 8701 broad.mit.edu GRCh37 7 21788246 21788246 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000328843.6:c.8580G>T p.Leu2860Phe p.L2860F ENST00000328843 2860 ttG/ttT 0 Missense_Mutation G 47 DNAH11 SNP 7 G T 21754771 21754771 Broad DOCK4 9732 broad.mit.edu GRCh37 7 111540571 111540571 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000437633.1:c.1339G>C p.Gly447Arg p.G447R ENST00000437633 NM_014705.3 447 Ggg/Cgg 0 Missense_Mutation C 21 DOCK4 SNP 7 C G 111327807 111327807 Broad SPTAN1 6709 broad.mit.edu GRCh37 9 131386698 131386698 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000372739.3:c.5924C>T p.Ala1975Val p.A1975V ENST00000372739 NM_001130438.2 1975 gCg/gTg 0 Missense_Mutation C 27 SPTAN1 SNP 9 C T 130426519 130426519 Broad TSC1 7248 broad.mit.edu GRCh37 9 135778139 135778139 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown x x x ENST00000298552.3:c.2244G>A p.Gln748= p.Q748= ENST00000298552 NM_001162426.1 748 caG/caA 0 Silent C 32 TSC1 SNP 9 C T 134767960 134767960 Broad KLHL4 56062 broad.mit.edu GRCh37 X 86888775 86888775 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000373114.4:c.1576T>A p.Tyr526Asn p.Y526N ENST00000373114 NM_057162.2 526 Tat/Aat 0 Missense_Mutation T 57 KLHL4 SNP 23 T A 86775431 86775431 Broad TP53 7157 broad.mit.edu GRCh37 17 7576900 7576901 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 A A - - Unknown Valid Somatic Phase_I Capture Illumina GAIIx ENST00000269305.4:c.945dup p.Pro316SerfsTer21 p.P316Sfs*21 ENST00000269305 NM_001126112.2 315 -/T 0 Frame_Shift_Ins - 41 TP53 INS 17 A A 7517626 7517625 Broad RNF213 57674 broad.mit.edu GRCh37 17 78321089 78321089 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000582970.1:c.8955del p.Asn2986ThrfsTer32 p.N2986Tfs*32 ENST00000582970 NM_001256071.1 2985 aGg/ag 0 Frame_Shift_Del G 35 RNF213 DEL 17 - - 75935684 75935684 Broad FAM47A 158724 broad.mit.edu GRCh37 X 34149658 34149693 + inframe_deletion In_Frame_Del DEL ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG - novel Unknown TCGA-24-1603-01 TCGA-24-1603-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000346193.3:c.703_738delCTCCGCCCGGAGCCTCCAGAGACTGGAGTGTCCCAT p.Leu235_His246del p.L235_H246del ENST00000346193 NM_203408.3 235 CTCCGCCCGGAGCCTCCAGAGACTGGAGTGTCCCAT/- 0 In_Frame_Del ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG 16 FAM47A DEL 23 - ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG 34059614 34059579 Broad ABCC1 4363 hgsc.bcm.edu GRCh37 16 16130332 16130332 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399410.3:c.681G>A p.Leu227= p.L227= ENST00000399410 NM_004996.3 227 ttG/ttA 0 Silent G 45 ABCC1 SNP 16 G A 16037833 16037833 Baylor ACCSL 390110 hgsc.bcm.edu GRCh37 11 44069679 44069679 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378832.1:c.93G>A p.Glu31= p.E31= ENST00000378832 NM_001031854.2 31 gaG/gaA 0 Silent G 33 ACCSL SNP 11 G A 44026255 44026255 Baylor CARNS1 57571 hgsc.bcm.edu GRCh37 11 67191291 67191291 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000445895.2:c.2072C>A p.Ala691Glu p.A691E ENST00000445895 691 gCg/gAg 0 Missense_Mutation C 27 CARNS1 SNP 11 C A 66947867 66947867 Baylor BBX 56987 hgsc.bcm.edu GRCh37 3 107435479 107435479 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000325805.8:c.188T>C p.Leu63Pro p.L63P ENST00000325805 63 cTa/cCa 0 Missense_Mutation T 53 BBX SNP 3 T C 108918169 108918169 Baylor BTBD9 114781 hgsc.bcm.edu GRCh37 6 38561772 38561772 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000481247.1:c.517C>T p.Leu173Phe p.L173F ENST00000481247 NM_052893.1 173 Ctc/Ttc 0 Missense_Mutation G 35 BTBD9 SNP 6 G A 38669750 38669750 Baylor CAMK1 8536 hgsc.bcm.edu GRCh37 3 9803325 9803325 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000256460.3:c.546G>A p.Pro182= p.P182= ENST00000256460 NM_003656.4 182 ccG/ccA 0 Silent C 23 CAMK1 SNP 3 C T 9778325 9778325 Baylor CCL17 6361 hgsc.bcm.edu GRCh37 16 57449102 57449102 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000219244.4:c.180T>A p.Asp60Glu p.D60E ENST00000219244 NM_002987.2 60 gaT/gaA 0 Missense_Mutation T 51 CCL17 SNP 16 T A 56006603 56006603 Baylor CCRL2 9034 hgsc.bcm.edu GRCh37 3 46449636 46449636 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357392.4:c.102C>T p.Ser34= p.S34= ENST00000357392 NM_001130910.1 34 agC/agT 0 Silent C 27 CCRL2 SNP 3 C T 46424640 46424640 Baylor COMMD5 28991 hgsc.bcm.edu GRCh37 8 146076705 146076705 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000450361.2:c.19G>A p.Ala7Thr p.A7T ENST00000450361 NM_001081003.2 7 Gca/Aca 0 Missense_Mutation C 25 COMMD5 SNP 8 C T 146047509 146047509 Baylor COMP 1311 hgsc.bcm.edu GRCh37 19 18896323 18896324 + frameshift_variant Frame_Shift_Ins INS - - GA novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000222271.2:c.1701_1702insTC p.Pro568SerfsTer22 p.P568Sfs*22 ENST00000222271 NM_000095.2 567 -/TC 0 Frame_Shift_Ins - 43 COMP INS 19 - GA 18757324 18757323 Baylor CSPP1 79848 hgsc.bcm.edu GRCh37 8 68105774 68105775 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262210.5:c.3392dup p.Val1132SerfsTer4 p.V1132Sfs*4 ENST00000262210 NM_024790.6 1131 aga/aGga 0 Frame_Shift_Ins - 15 CSPP1 INS 8 - G 68268329 68268328 Baylor CYFIP1 23191 hgsc.bcm.edu GRCh37 15 22963843 22963843 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000313077.7:c.2357G>A p.Arg786Gln p.R786Q ENST00000313077 NM_014608.2 786 cGa/cAa 0 Missense_Mutation G 37 CYFIP1 SNP 15 G A 20515284 20515284 Baylor DNAH5 1767 hgsc.bcm.edu GRCh37 5 13763005 13763005 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265104.4:c.10107C>A p.Phe3369Leu p.F3369L ENST00000265104 NM_001369.2 3369 ttC/ttA 0 Missense_Mutation G 41 DNAH5 SNP 5 G T 13816005 13816005 Baylor DNAH5 1767 hgsc.bcm.edu GRCh37 5 13868012 13868012 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265104.4:c.3924G>T p.Lys1308Asn p.K1308N ENST00000265104 NM_001369.2 1308 aaG/aaT 0 Missense_Mutation C 28 DNAH5 SNP 5 C A 13921012 13921012 Baylor DSCAM 1826 hgsc.bcm.edu GRCh37 21 41414566 41414566 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000400454.1:c.5418T>C p.Ser1806= p.S1806= ENST00000400454 NM_001271534.1 1806 agT/agC 0 Silent A 6 DSCAM SNP 21 A G 40336436 40336436 Baylor FRY 10129 hgsc.bcm.edu GRCh37 13 32731510 32731510 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000380250.3:c.1752G>C p.Gln584His p.Q584H ENST00000380250 NM_023037.2 584 caG/caC 0 Missense_Mutation G 33 FRY SNP 13 G C 31629510 31629510 Baylor GPR113 165082 hgsc.bcm.edu GRCh37 2 26535951 26535951 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311519.1:c.1513C>G p.Pro505Ala p.P505A ENST00000311519 NM_001145168.1 505 Cca/Gca 0 Missense_Mutation G 42 GPR113 SNP 2 G C 26389455 26389455 Baylor HAS2 3037 hgsc.bcm.edu GRCh37 8 122641020 122641020 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000303924.4:c.561G>T p.Trp187Cys p.W187C ENST00000303924 NM_005328.2 187 tgG/tgT 0 Missense_Mutation C 22 HAS2 SNP 8 C A 122710201 122710201 Baylor IL16 3603 hgsc.bcm.edu GRCh37 15 81571970 81571970 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302987.4:c.936C>A p.His312Gln p.H312Q ENST00000302987 312 caC/caA 0 Missense_Mutation C 18 IL16 SNP 15 C A 79359025 79359025 Baylor IL6R 3570 hgsc.bcm.edu GRCh37 1 154420632 154420632 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368485.3:c.981G>T p.Val327= p.V327= ENST00000368485 NM_000565.3 327 gtG/gtT 0 Silent G 48 IL6R SNP 1 G T 152687256 152687256 Baylor IQGAP3 128239 hgsc.bcm.edu GRCh37 1 156496299 156496299 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361170.2:c.4875C>T p.Asn1625= p.N1625= ENST00000361170 NM_178229.4 1625 aaC/aaT 0 Silent G 48 IQGAP3 SNP 1 G A 154762923 154762923 Baylor ITGA8 8516 hgsc.bcm.edu GRCh37 10 15720743 15720743 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000378076.3:c.608G>T p.Gly203Val p.G203V ENST00000378076 NM_003638.1 203 gGa/gTa 0 Missense_Mutation C 30 ITGA8 SNP 10 C A 15760749 15760749 Baylor KCNB1 3745 hgsc.bcm.edu GRCh37 20 47990775 47990775 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371741.4:c.1322G>T p.Arg441Met p.R441M ENST00000371741 NM_004975.2 441 aGg/aTg 0 Missense_Mutation C 24 KCNB1 SNP 20 C A 47424182 47424182 Baylor KIAA1841 84542 hgsc.bcm.edu GRCh37 2 61315323 61315324 + frameshift_variant Frame_Shift_Del DEL TG TG - novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 TG TG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000402291.1:c.921_922del p.Phe308Ter p.F308* ENST00000402291 NM_001129993.1 307 cTG/c 0 Frame_Shift_Del TG 55 KIAA1841 DEL 2 TG - 61168828 61168827 Baylor KRT27 342574 hgsc.bcm.edu GRCh37 17 38936007 38936008 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000301656.3:c.790dup p.Tyr264LeufsTer29 p.Y264Lfs*29 ENST00000301656 NM_181537.3 264 tac/tTac 0 Frame_Shift_Ins - 57 KRT27 INS 17 - A 36189534 36189533 Baylor LRP1 4035 hgsc.bcm.edu GRCh37 12 57552345 57552345 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000243077.3:c.1722C>A p.Tyr574Ter p.Y574* ENST00000243077 NM_002332.2 574 taC/taA 0 Nonsense_Mutation C 20 LRP1 SNP 12 C A 55838612 55838612 Baylor LRRC36 55282 hgsc.bcm.edu GRCh37 16 67405071 67405071 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000329956.6:c.1420G>A p.Gly474Arg p.G474R ENST00000329956 NM_018296.5 474 Gga/Aga 0 Missense_Mutation G 35 LRRC36 SNP 16 G A 65962572 65962572 Baylor MAP3K10 4294 hgsc.bcm.edu GRCh37 19 40720904 40720904 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000253055.3:c.2570G>A p.Arg857His p.R857H ENST00000253055 NM_002446.3 857 cGc/cAc 0 Missense_Mutation G 38 MAP3K10 SNP 19 G A 45412744 45412744 Baylor MCCC2 64087 hgsc.bcm.edu GRCh37 5 70900297 70900297 + splice_donor_variant Splice_Site SNP T T C novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000340941.6:c.624+2T>C p.X208_splice ENST00000340941 NM_022132.4 0 Splice_Site_SNP T 57 MCCC2 SNP 5 T C 70936053 70936053 Baylor MFSD6 54842 hgsc.bcm.edu GRCh37 2 191301317 191301317 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000392328.1:c.562T>G p.Phe188Val p.F188V ENST00000392328 NM_017694.3 188 Ttc/Gtc 0 Missense_Mutation T 64 MFSD6 SNP 2 T G 191009562 191009562 Baylor MYEOV 26579 hgsc.bcm.edu GRCh37 11 69063572 69063572 + missense_variant Missense_Mutation SNP A A G rs17856376 Unknown TCGA-23-1028-01 TCGA-23-1028-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000308946.3:c.655A>G p.Met219Val p.M219V ENST00000308946 NM_138768.2 219 Atg/Gtg 0 Missense_Mutation A 8 MYEOV SNP 11 A G 68820148 68820148 Baylor KAT6B 23522 hgsc.bcm.edu GRCh37 10 76781770 76781770 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000287239.4:c.3153C>T p.Ser1051= p.S1051= ENST00000287239 NM_001256468.1 1051 agC/agT 0 Silent C 26 MYST4 SNP 10 C T 76451776 76451776 Baylor KAT6B 23522 hgsc.bcm.edu GRCh37 10 76781906 76781908 + inframe_deletion In_Frame_Del DEL GAA GAA - rs3217598 Unknown TCGA-23-1028-01 TCGA-23-1028-10 GAA GAA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000287239.4:c.3310_3312del p.Glu1104del p.E1104del ENST00000287239 NM_001256468.1 1097 GAA/- 0 In_Frame_Del GAA 41 MYST4 DEL 10 GAA - 76451914 76451912 Baylor NCR2 9436 hgsc.bcm.edu GRCh37 6 41304034 41304034 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373089.5:c.262G>C p.Asp88His p.D88H ENST00000373089 NM_004828.3 88 Gat/Cat 0 Missense_Mutation G 45 NCR2 SNP 6 G C 41412012 41412012 Baylor NF1 4763 hgsc.bcm.edu GRCh37 17 29654578 29654581 + frameshift_variant Frame_Shift_Del DEL TCTT TCTT - novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 TCTT TCTT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358273.4:c.5333_5336del p.Phe1778Ter p.F1778* ENST00000358273 NM_001042492.2 1777 gTCTTt/gt 0 Frame_Shift_Del TCTT 58 NF1 DEL 17 TCTT - 26678707 26678704 Baylor POM121 9883 hgsc.bcm.edu GRCh37 7 72420389 72420393 + 3_prime_UTR_variant 3'UTR DEL GGTTC GGTTC - novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 GGTTC GGTTC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395270.1:c.*1380_*1384del *460* ENST00000395270 NM_001257190.2 0 Frame_Shift_Del GGTTC 47 NSUN5P2 DEL 7 GGTTC - 72058329 72058325 Baylor OAS3 4940 hgsc.bcm.edu GRCh37 12 113379415 113379415 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000228928.7:c.218G>T p.Cys73Phe p.C73F ENST00000228928 NM_006187.2 73 tGt/tTt 0 Missense_Mutation G 48 OAS3 SNP 12 G T 111863798 111863798 Baylor OR6T1 219874 hgsc.bcm.edu GRCh37 11 123814385 123814385 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000321252.2:c.161G>A p.Arg54His p.R54H ENST00000321252 NM_001005187.1 54 cGc/cAc 0 Missense_Mutation C 27 OR6T1 SNP 11 C T 123319595 123319595 Baylor PAFAH2 5051 hgsc.bcm.edu GRCh37 1 26299186 26299186 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000374282.3:c.947G>A p.Ser316Asn p.S316N ENST00000374282 NM_000437.3 316 aGt/aAt 0 Missense_Mutation C 20 PAFAH2 SNP 1 C T 26171773 26171773 Baylor PHKG2 5261 hgsc.bcm.edu GRCh37 16 30768418 30768418 + stop_retained_variant Silent SNP G G A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000563588.1:c.1221G>A p.Ter407= p.*407= ENST00000563588 NM_000294.2 407 taG/taA 0 Silent G 35 PHKG2 SNP 16 G A 30675919 30675919 Baylor GSAP 54103 hgsc.bcm.edu GRCh37 7 76950105 76950105 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000257626.7:c.2026G>A p.Val676Ile p.V676I ENST00000257626 NM_017439.3 676 Gtt/Att 0 Missense_Mutation C 20 PION SNP 7 C T 76788041 76788041 Baylor PLXNC1 10154 hgsc.bcm.edu GRCh37 12 94641843 94641843 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000258526.4:c.2553G>T p.Val851= p.V851= ENST00000258526 NM_005761.2 851 gtG/gtT 0 Silent G 47 PLXNC1 SNP 12 G T 93165974 93165974 Baylor PRTN3 5657 hgsc.bcm.edu GRCh37 19 847909 847909 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000234347.5:c.711C>T p.Ala237= p.A237= ENST00000234347 NM_002777.3 237 gcC/gcT 0 Silent C 22 PRTN3 SNP 19 C T 798909 798909 Baylor RAD51 5888 hgsc.bcm.edu GRCh37 15 41001312 41001312 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000267868.3:c.433C>T p.Gln145Ter p.Q145* ENST00000267868 NM_002875.4 145 Cag/Tag 0 Nonsense_Mutation C 21 RAD51 SNP 15 C T 38788604 38788604 Baylor RAD9A 5883 hgsc.bcm.edu GRCh37 11 67164680 67164680 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000307980.2:c.903C>T p.Asp301= p.D301= ENST00000307980 NM_004584.2 301 gaC/gaT 0 Silent C 19 RAD9A SNP 11 C T 66921256 66921256 Baylor RASAL1 8437 hgsc.bcm.edu GRCh37 12 113565669 113565671 + inframe_deletion In_Frame_Del DEL GTC GTC - novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 GTC GTC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000546530.1:c.244_246del p.Asp82del p.D82del ENST00000546530 NM_004658.2 82 GAC/- 0 In_Frame_Del GTC 48 RASAL1 DEL 12 GTC - 112050054 112050052 Baylor RNF25 64320 hgsc.bcm.edu GRCh37 2 219528823 219528823 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295704.2:c.1237A>G p.Arg413Gly p.R413G ENST00000295704 NM_022453.2 413 Agg/Ggg 0 Missense_Mutation T 55 RNF25 SNP 2 T C 219237067 219237067 Baylor FAM227A 646851 hgsc.bcm.edu GRCh37 22 38995892 38995892 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000406767.2:c.1241del p.Ser414Ter p.S414* ENST00000406767 414 tCa/ta 0 Frame_Shift_Del G 45 RP1-199H16.1 DEL 22 G - 37325838 37325838 Baylor SIX6 4990 hgsc.bcm.edu GRCh37 14 60976473 60976473 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000327720.5:c.357C>T p.Phe119= p.F119= ENST00000327720 NM_007374.2 119 ttC/ttT 0 Silent C 30 SIX6 SNP 14 C T 60046226 60046226 Baylor SLCO6A1 133482 hgsc.bcm.edu GRCh37 5 101709112 101709112 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000506729.1:c.2104C>A p.Pro702Thr p.P702T ENST00000506729 702 Cca/Aca 0 Missense_Mutation G 43 SLCO6A1 SNP 5 G T 101737011 101737011 Baylor TAF1B 9014 hgsc.bcm.edu GRCh37 2 10045024 10045024 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263663.5:c.844del p.Val282Ter p.V282* ENST00000263663 NM_005680.2 282 Gta/ta 0 Frame_Shift_Del G 36 TAF1B DEL 2 G - 9962475 9962475 Baylor TOB1 10140 hgsc.bcm.edu GRCh37 17 48941049 48941050 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000499247.2:c.329_330insT p.Lys110AsnfsTer7 p.K110Nfs*7 ENST00000499247 NM_005749.3 110 aag/aaTg 0 Frame_Shift_Ins - 24 TOB1 INS 17 - A 46296049 46296048 Baylor TOP2A 7153 hgsc.bcm.edu GRCh37 17 38569218 38569219 + stop_gained,frameshift_variant Nonsense_Mutation INS - - CATGT novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000423485.1:c.577_581dup p.Trp194Ter p.W194* ENST00000423485 NM_001067.3 194 tgg/tgACATGg 0 Frame_Shift_Ins - 30 TOP2A INS 17 - CATGT 35822745 35822744 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577532 7577532 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000269305.4:c.749C>T p.Pro250Leu p.P250L ENST00000269305 NM_001126112.2 250 cCc/cTc 0 Missense_Mutation G 43 TP53 SNP 17 G A 7518257 7518257 Baylor TRNAU1AP 54952 hgsc.bcm.edu GRCh37 1 28897732 28897732 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373830.3:c.575G>C p.Ser192Thr p.S192T ENST00000373830 NM_017846.4 192 aGc/aCc 0 Missense_Mutation G 34 TRNAU1AP SNP 1 G C 28770319 28770319 Baylor TSEN34 79042 hgsc.bcm.edu GRCh37 19 54696097 54696097 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000396383.1:c.618T>C p.Ser206= p.S206= ENST00000396383 206 tcT/tcC 0 Silent T 53 TSEN34 SNP 19 T C 59387909 59387909 Baylor UBL7 84993 hgsc.bcm.edu GRCh37 15 74743861 74743861 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000567435.1:c.388G>A p.Val130Ile p.V130I ENST00000567435 NM_001286741.1 130 Gtc/Atc 0 Missense_Mutation C 18 UBL7 SNP 15 C T 72530914 72530914 Baylor ZDBF2 57683 hgsc.bcm.edu GRCh37 2 207174848 207174848 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-23-1028-01 TCGA-23-1028-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374423.3:c.5601del p.Val1868PhefsTer46 p.V1868Ffs*46 ENST00000374423 NM_020923.1 1866 Aaa/aa 0 Frame_Shift_Del A 5 ZDBF2 DEL 2 A - 206883093 206883093 Baylor GLDC 2731 genome.wustl.edu GRCh37 9 6589283 6589283 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321612.6:c.1492G>C p.Ala498Pro p.A498P ENST00000321612 NM_000170.2 498 Gct/Cct 0 Missense_Mutation C 25 GLDC SNP 9 C G 6579283 6579283 WashU GPS2 2874 genome.wustl.edu GRCh37 17 7216433 7216433 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380728.2:c.815G>A p.Arg272His p.R272H ENST00000380728 272 cGc/cAc 0 Missense_Mutation C 27 GPS2 SNP 17 C T 7157157 7157157 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577112 7577112 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.826G>C p.Ala276Pro p.A276P ENST00000269305 NM_001126112.2 276 Gcc/Ccc 0 Missense_Mutation C 25 TP53 SNP 17 C G 7517837 7517837 WashU MYH1 4619 genome.wustl.edu GRCh37 17 10415500 10415500 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000226207.5:c.1157A>G p.Lys386Arg p.K386R ENST00000226207 NM_005963.3 386 aAg/aGg 0 Missense_Mutation T 56 MYH1 SNP 17 T C 10356225 10356225 WashU CCDC3 83643 genome.wustl.edu GRCh37 10 12940645 12940645 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378825.3:c.584A>T p.Glu195Val p.E195V ENST00000378825 NM_031455.3 195 gAg/gTg 0 Missense_Mutation T 54 CCDC3 SNP 10 T A 12980651 12980651 WashU EMR3 84658 genome.wustl.edu GRCh37 19 14765803 14765803 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253673.5:c.568G>A p.Asp190Asn p.D190N ENST00000253673 NM_032571.3 190 Gat/Aat 0 Missense_Mutation C 31 EMR3 SNP 19 C T 14626803 14626803 WashU CYP2R1 120227 genome.wustl.edu GRCh37 11 14902270 14902270 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334636.5:c.412C>T p.Arg138Ter p.R138* ENST00000334636 NM_024514.4 138 Cga/Tga 0 Nonsense_Mutation G 40 CYP2R1 SNP 11 G A 14858846 14858846 WashU CIB3 117286 genome.wustl.edu GRCh37 19 16275555 16275555 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269878.4:c.516G>A p.Met172Ile p.M172I ENST00000269878 NM_054113.2 172 atG/atA 0 Missense_Mutation C 29 CIB3 SNP 19 C T 16136555 16136555 WashU AC025627.9 100132639 genome.wustl.edu GRCh37 17 20417937 20417937 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000453795.2:n.675C>A *225* ENST00000453795 0 Silent G 46 LOC100132639 SNP 17 G T 20358529 20358529 WashU UBXN10 127733 genome.wustl.edu GRCh37 1 20517093 20517093 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375099.3:c.39G>A p.Glu13= p.E13= ENST00000375099 NM_152376.3 13 gaG/gaA 0 Silent G 36 UBXN10 SNP 1 G A 20389680 20389680 WashU DNAH3 55567 genome.wustl.edu GRCh37 16 20944760 20944760 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261383.3:c.12067G>C p.Glu4023Gln p.E4023Q ENST00000261383 NM_017539.1 4023 Gaa/Caa 0 Missense_Mutation C 32 DNAH3 SNP 16 C G 20852261 20852261 WashU IFNA1 3439 genome.wustl.edu GRCh37 9 21440948 21440948 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276927.1:c.442C>G p.Arg148Gly p.R148G ENST00000276927 NM_024013.2 148 Cga/Gga 0 Missense_Mutation C 23 IFNA1 SNP 9 C G 21430948 21430948 WashU PHEX 5251 genome.wustl.edu GRCh37 X 22115157 22115157 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379374.4:c.933+1G>T p.X311_splice ENST00000379374 NM_000444.4 0 Splice_Site_SNP G 44 PHEX SNP 23 G T 22025078 22025078 WashU SLFN12L 100506736 genome.wustl.edu GRCh37 17 33806779 33806779 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260908.7:c.450G>A p.Thr150= p.T150= ENST00000260908 NM_001195790.1 150 acG/acA 0 Silent C 19 SLFN12L SNP 17 C T 30830892 30830892 WashU NBEA 26960 genome.wustl.edu GRCh37 13 35735998 35735998 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400445.3:c.3973C>T p.Arg1325Trp p.R1325W ENST00000400445 NM_015678.4 1325 Cgg/Tgg 0 Missense_Mutation C 19 NBEA SNP 13 C T 34633998 34633998 WashU FAM47B 170062 genome.wustl.edu GRCh37 X 34962306 34962306 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329357.5:c.1358C>G p.Ser453Cys p.S453C ENST00000329357 NM_152631.2 453 tCt/tGt 0 Missense_Mutation C 32 FAM47B SNP 23 C G 34872227 34872227 WashU TCP11 6954 genome.wustl.edu GRCh37 6 35088057 35088057 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311875.5:c.1033G>T p.Val345Phe p.V345F ENST00000311875 345 Gtc/Ttc 0 Missense_Mutation C 19 TCP11 SNP 6 C A 35196035 35196035 WashU XYLB 9942 genome.wustl.edu GRCh37 3 38407184 38407184 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000207870.3:c.464G>T p.Gly155Val p.G155V ENST00000207870 NM_005108.3 155 gGt/gTt 0 Missense_Mutation G 44 XYLB SNP 3 G T 38382188 38382188 WashU SGSM3 27352 genome.wustl.edu GRCh37 22 40802177 40802177 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000248929.9:c.910G>A p.Glu304Lys p.E304K ENST00000248929 NM_015705.4 304 Gag/Aag 0 Missense_Mutation G 37 SGSM3 SNP 22 G A 39132123 39132123 WashU KCNK16 83795 genome.wustl.edu GRCh37 6 39282850 39282850 + 3_prime_UTR_variant 3'UTR SNP G G C novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000425054.2:c.*50C>G *17* ENST00000425054 NM_001135105.1 0 Silent G 34 KCNK16 SNP 6 G C 39390828 39390828 WashU UBA2 10054 genome.wustl.edu GRCh37 19 34949673 34949673 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000246548.4:c.1246-1G>T p.X416_splice ENST00000246548 NM_005499.2 0 Splice_Site_SNP G 33 UBA2 SNP 19 G T 39641513 39641513 WashU UBASH3A 53347 genome.wustl.edu GRCh37 21 43867232 43867232 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319294.6:c.1914C>G p.Asn638Lys p.N638K ENST00000319294 NM_018961.3 638 aaC/aaG 0 Missense_Mutation C 18 UBASH3A SNP 21 C G 42740301 42740301 WashU MAST2 23139 genome.wustl.edu GRCh37 1 46494576 46494576 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361297.2:c.2189C>T p.Pro730Leu p.P730L ENST00000361297 NM_015112.2 730 cCg/cTg 0 Missense_Mutation C 23 MAST2 SNP 1 C T 46267163 46267163 WashU AKAP4 8852 genome.wustl.edu GRCh37 X 49958492 49958492 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358526.2:c.872A>C p.Glu291Ala p.E291A ENST00000358526 NM_003886.2 291 gAg/gCg 0 Missense_Mutation T 54 AKAP4 SNP 23 T G 49845232 49845232 WashU INTS6 26512 genome.wustl.edu GRCh37 13 51943315 51943316 + missense_variant Missense_Mutation DNP CC CC TT novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 CC CC CC TT CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311234.4:c.2235_2236delinsAA p.Glu746Lys p.E746K ENST00000311234 NM_012141.2 745 ctGGaa/ctAAaa 0 Missense CC 30 INTS6 DNP 13 CC TT 50841317 50841316 WashU ATF7 11016 genome.wustl.edu GRCh37 12 53931309 53931309 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000420353.2:c.292C>G p.Leu98Val p.L98V ENST00000420353 NM_006856.2 98 Ctg/Gtg 0 Missense_Mutation G 33 ATF7 SNP 12 G C 52217576 52217576 WashU OR5D14 219436 genome.wustl.edu GRCh37 11 55563272 55563272 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335605.1:c.241C>A p.Pro81Thr p.P81T ENST00000335605 NM_001004735.1 81 Ccc/Acc 0 Missense_Mutation C 30 OR5D14 SNP 11 C A 55319848 55319848 WashU VN1R4 317703 genome.wustl.edu GRCh37 19 53770598 53770598 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311170.4:c.321C>A p.Ile107= p.I107= ENST00000311170 NM_173857.2 107 atC/atA 0 Silent G 45 VN1R4 SNP 19 G T 58462410 58462410 WashU VN1R4 317703 genome.wustl.edu GRCh37 19 53770850 53770850 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311170.4:c.69C>G p.Phe23Leu p.F23L ENST00000311170 NM_173857.2 23 ttC/ttG 0 Missense_Mutation G 33 VN1R4 SNP 19 G C 58462662 58462662 WashU DHRS7 51635 genome.wustl.edu GRCh37 14 60616107 60616107 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216500.5:c.936G>A p.Met312Ile p.M312I ENST00000216500 312 atG/atA 0 Nonsense_Mutation C 21 DHRS7 SNP 14 C T 59685860 59685860 WashU CDH1 999 genome.wustl.edu GRCh37 16 68842671 68842671 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000261769.5:c.607G>A p.Gly203Ser p.G203S ENST00000261769 NM_004360.3 203 Ggt/Agt 0 Missense_Mutation G 47 CDH1 SNP 16 G A 67400172 67400172 WashU SLC8A3 6547 genome.wustl.edu GRCh37 14 70512826 70512826 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000381269.2:c.2622C>T p.Val874= p.V874= ENST00000381269 NM_183002.1 874 gtC/gtT 0 Silent G 33 SLC8A3 SNP 14 G A 69582579 69582579 WashU BAI3 577 genome.wustl.edu GRCh37 6 69772906 69772906 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370598.1:c.2414T>C p.Ile805Thr p.I805T ENST00000370598 NM_001704.2 805 aTa/aCa 0 Missense_Mutation T 49 BAI3 SNP 6 T C 69829627 69829627 WashU DYSF 8291 genome.wustl.edu GRCh37 2 71795139 71795139 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000410020.3:c.2624G>T p.Trp875Leu p.W875L ENST00000410020 NM_001130987.1 875 tGg/tTg 0 Missense_Mutation G 47 DYSF SNP 2 G T 71648647 71648647 WashU ANKRD17 26057 genome.wustl.edu GRCh37 4 73951027 73951027 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358602.4:c.7098C>T p.Asn2366= p.N2366= ENST00000358602 NM_032217.3 2366 aaC/aaT 0 Silent G 36 ANKRD17 SNP 4 G A 74169891 74169891 WashU SALL3 27164 genome.wustl.edu GRCh37 18 76757179 76757179 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000537592.2:c.3760G>T p.Gly1254Cys p.G1254C ENST00000537592 NM_171999.3 1254 Ggc/Tgc 0 Missense_Mutation G 43 SALL3 SNP 18 T T 74858167 74858167 WashU NFATC1 4772 genome.wustl.edu GRCh37 18 77227620 77227620 + intron_variant Intron SNP G G A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329101.4:c.2053+38G>A *685* ENST00000329101 NM_172387.2 0 Silent G 34 NFATC1 SNP 18 G A 75328608 75328608 WashU BRWD3 254065 genome.wustl.edu GRCh37 X 79936995 79936995 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373275.4:c.4499C>G p.Ser1500Ter p.S1500* ENST00000373275 NM_153252.4 1500 tCa/tGa 0 Nonsense_Mutation G 45 BRWD3 SNP 23 G C 79823651 79823651 WashU ALPK3 57538 genome.wustl.edu GRCh37 15 85383903 85383903 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000258888.5:c.1999C>A p.Gln667Lys p.Q667K ENST00000258888 NM_020778.4 667 Cag/Aag 0 Missense_Mutation C 21 ALPK3 SNP 15 C A 83184907 83184907 WashU FOLH1B 219595 genome.wustl.edu GRCh37 11 89413790 89413790 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000525540.1:n.988G>A *330* ENST00000525540 0 Silent G 45 FOLH1B SNP 11 G A 89053438 89053438 WashU IGKV2D-29 genome.wustl.edu GRCh37 2 89987025 89987025 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000491977.1:c.306G>C p.Arg102= p.R102= ENST00000491977 102 cgG/cgC 0 Silent G 43 ENSG00000211622 SNP 2 G C 89624330 89624330 WashU GPR98 84059 genome.wustl.edu GRCh37 5 89988572 89988572 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405460.2:c.7102A>G p.Ser2368Gly p.S2368G ENST00000405460 NM_032119.3 2368 Agt/Ggt 0 Missense_Mutation A 3 GPR98 SNP 5 A G 90024328 90024328 WashU CLDN10 9071 genome.wustl.edu GRCh37 13 96086272 96086272 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376873.3:c.185G>T p.Arg62Leu p.R62L ENST00000376873 NM_182848.3 62 cGa/cTa 0 Missense_Mutation G 37 CLDN10 SNP 13 G T 94884273 94884273 WashU PROM2 150696 genome.wustl.edu GRCh37 2 95940495 95940495 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000317620.9:c.162T>G p.Val54= p.V54= ENST00000317620 NM_001165978.1 54 gtT/gtG 0 Silent T 62 PROM2 SNP 2 T G 95304222 95304222 WashU PTCH1 5727 genome.wustl.edu GRCh37 9 98239912 98239912 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331920.6:c.1420G>A p.Val474Ile p.V474I ENST00000331920 NM_000264.3 474 Gtc/Atc 0 Missense_Mutation C 19 PTCH1 SNP 9 C T 97279733 97279733 WashU RIMS2 9699 genome.wustl.edu GRCh37 8 104955050 104955050 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000406091.3:c.2597A>C p.Tyr866Ser p.Y866S ENST00000406091 NM_001100117.2 866 tAc/tCc 0 Missense_Mutation A 14 RIMS2 SNP 8 A C 105024226 105024226 WashU EIF3E 3646 genome.wustl.edu GRCh37 8 109241314 109241314 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000220849.5:c.582G>C p.Glu194Asp p.E194D ENST00000220849 NM_001568.2 194 gaG/gaC 0 Missense_Mutation C 32 EIF3E SNP 8 C G 109310490 109310490 WashU C9orf84 158401 genome.wustl.edu GRCh37 9 114476800 114476800 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374287.3:c.2148G>T p.Lys716Asn p.K716N ENST00000374287 716 aaG/aaT 0 Missense_Mutation C 28 C9orf84 SNP 9 C A 113516621 113516621 WashU LRCH2 57631 genome.wustl.edu GRCh37 X 114347848 114347848 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000317135.8:c.2229A>T p.Lys743Asn p.K743N ENST00000317135 NM_020871.3 743 aaA/aaT 0 Missense_Mutation T 56 LRCH2 SNP 23 T A 114254104 114254104 WashU OR10G7 390265 genome.wustl.edu GRCh37 11 123909674 123909674 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330487.5:c.35T>A p.Leu12His p.L12H ENST00000330487 NM_001004463.1 12 cTc/cAc 0 Missense_Mutation A 11 OR10G7 SNP 11 A T 123414884 123414884 WashU OR8B8 26493 genome.wustl.edu GRCh37 11 124310489 124310489 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328064.2:c.493G>C p.Gly165Arg p.G165R ENST00000328064 NM_012378.1 165 Ggt/Cgt 0 Missense_Mutation C 22 OR8B8 SNP 11 C G 123815699 123815699 WashU CDON 50937 genome.wustl.edu GRCh37 11 125873858 125873858 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392693.3:c.1965G>T p.Met655Ile p.M655I ENST00000392693 NM_001243597.1 655 atG/atT 0 Missense_Mutation C 21 CDON SNP 11 C A 125379068 125379068 WashU PTPN18 26469 genome.wustl.edu GRCh37 2 131128838 131128838 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000175756.5:c.991C>T p.Arg331Cys p.R331C ENST00000175756 NM_014369.3 331 Cgc/Tgc 0 Missense_Mutation C 23 PTPN18 SNP 2 C T 130845308 130845308 WashU ACTR3C 653857 genome.wustl.edu GRCh37 7 149983504 149983504 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000539352.1:c.423C>A p.Asp141Glu p.D141E ENST00000539352 NM_001164458.1 141 gaC/gaA 0 Missense_Mutation G 40 uc003wgu.1 SNP 7 G T 149614437 149614437 WashU MNDA 4332 genome.wustl.edu GRCh37 1 158812137 158812137 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368141.4:c.194T>G p.Leu65Arg p.L65R ENST00000368141 NM_002432.1 65 cTa/cGa 0 Missense_Mutation T 53 MNDA SNP 1 T G 157078761 157078761 WashU DOCK2 1794 genome.wustl.edu GRCh37 5 169230068 169230068 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256935.8:c.2561G>A p.Arg854Gln p.R854Q ENST00000256935 NM_004946.2 854 cGg/cAg 0 Missense_Mutation G 39 DOCK2 SNP 5 G A 169162646 169162646 WashU C4orf27 54969 genome.wustl.edu GRCh37 4 170663135 170663135 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393381.2:c.621C>T p.Thr207= p.T207= ENST00000393381 NM_017867.2 207 acC/acT 0 Silent G 39 C4orf27 SNP 4 G A 170899710 170899710 WashU TTN 7273 genome.wustl.edu GRCh37 2 179397613 179397613 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.103729C>G p.Gln34577Glu p.Q34577E ENST00000589042 NM_001267550.1 34577 Cag/Gag 0 Missense_Mutation G 45 TTN SNP 2 G C 179105859 179105859 WashU ANKRD44 91526 genome.wustl.edu GRCh37 2 197953512 197953512 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000424317.1:c.615C>T p.His205= p.H205= ENST00000424317 205 caC/caT 0 Silent G 40 ANKRD44 SNP 2 G A 197661757 197661757 WashU RBM44 375316 genome.wustl.edu GRCh37 2 238726221 238726221 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316997.4:c.662G>A p.Gly221Glu p.G221E ENST00000316997 NM_001080504.2 221 gGa/gAa 0 Missense_Mutation G 41 RBM44 SNP 2 G A 238390960 238390960 WashU RGS7 6000 genome.wustl.edu GRCh37 1 241033371 241033371 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366565.1:c.434T>A p.Leu145His p.L145H ENST00000366565 NM_002924.4 145 cTc/cAc 0 Missense_Mutation A 11 RGS7 SNP 1 A T 239099994 239099994 WashU SH3GL1 6455 genome.wustl.edu GRCh37 19 4362368 4362368 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000269886.3:c.868C>T p.Arg290Ter p.R290* ENST00000269886 NM_003025.3 290 Cga/Tga 0 Nonsense_Mutation G 39 SH3GL1 SNP 19 G A 4313368 4313368 WashU TP73 7161 genome.wustl.edu GRCh37 1 3624325 3624325 + missense_variant Missense_Mutation SNP G G T Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000378295.4:c.399G>T p.Gln133His p.Q133H ENST00000378295 NM_005427.3 133 caG/caT 0 Missense_Mutation G 36 TP73 SNP 1 G T 3614185 3614185 WashU OR7C2 26658 genome.wustl.edu GRCh37 19 15052973 15052973 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000248072.3:c.673G>A p.Val225Ile p.V225I ENST00000248072 NM_012377.1 225 Gtc/Atc 0 Missense_Mutation G 40 OR7C2 SNP 19 G A 14913973 14913973 WashU RP1L1 94137 genome.wustl.edu GRCh37 8 10466880 10466880 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0807-01 TCGA-13-0807-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382483.3:c.4728C>A p.Leu1576= p.L1576= ENST00000382483 NM_178857.5 1576 ctC/ctA 0 Silent G 41 RP1L1 SNP 8 G T 10504290 10504290 WashU VPS13D 55187 broad.mit.edu GRCh37 1 12403079 12403079 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000358136.3:c.8856A>C p.Glu2952Asp p.E2952D ENST00000358136 NM_015378.2 2952 gaA/gaC 0 Missense_Mutation A 4 VPS13D SNP 1 A C 12325666 12325666 Broad EPHA2 1969 broad.mit.edu GRCh37 1 16451772 16451772 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000358432.5:c.2869C>T p.Arg957Cys p.R957C ENST00000358432 NM_004431.3 957 Cgc/Tgc 0 Missense_Mutation G 38 EPHA2 SNP 1 G A 16324359 16324359 Broad USP24 23358 broad.mit.edu GRCh37 1 55624694 55624694 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000294383.6:c.1084C>G p.Pro362Ala p.P362A ENST00000294383 NM_015306.2 362 Cct/Gct 0 Missense_Mutation G 43 USP24 SNP 1 G C 55397282 55397282 Broad RSBN1 54665 broad.mit.edu GRCh37 1 114354853 114354853 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000261441.5:c.182C>A p.Ala61Glu p.A61E ENST00000261441 NM_018364.3 61 gCg/gAg 0 Missense_Mutation G 38 RSBN1 SNP 1 G T 114156376 114156376 Broad CD84 8832 broad.mit.edu GRCh37 1 160535272 160535272 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000311224.4:c.310G>A p.Ala104Thr p.A104T ENST00000311224 NM_001184879.1 104 Gca/Aca 0 Missense_Mutation C 27 CD84 SNP 1 C T 158801896 158801896 Broad C12orf40 283461 broad.mit.edu GRCh37 12 40044120 40044120 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000324616.5:c.650C>T p.Thr217Ile p.T217I ENST00000324616 NM_001031748.2 217 aCt/aTt 0 Missense_Mutation C 20 C12orf40 SNP 12 C T 38330387 38330387 Broad SCN8A 6334 broad.mit.edu GRCh37 12 52115545 52115545 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000354534.6:c.1851C>A p.Tyr617Ter p.Y617* ENST00000354534 NM_014191.3 617 taC/taA 0 Nonsense_Mutation C 17 SCN8A SNP 12 C A 50401812 50401812 Broad TIMELESS 8914 broad.mit.edu GRCh37 12 56827621 56827621 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000553532.1:c.187A>T p.Ser63Cys p.S63C ENST00000553532 63 Agc/Tgc 0 Missense_Mutation T 54 TIMELESS SNP 12 T A 55113888 55113888 Broad PLEKHG7 440107 broad.mit.edu GRCh37 12 93147942 93147942 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000344636.3:c.392G>A p.Arg131Gln p.R131Q ENST00000344636 NM_001004330.2 131 cGa/cAa 0 Missense_Mutation G 37 PLEKHG7 SNP 12 G A 91672073 91672073 Broad UBE3B 89910 broad.mit.edu GRCh37 12 109968395 109968395 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000342494.3:c.2854G>T p.Val952Phe p.V952F ENST00000342494 NM_130466.3 952 Gtc/Ttc 0 Missense_Mutation G 36 UBE3B SNP 12 G T 108452778 108452778 Broad ZNF268 10795 broad.mit.edu GRCh37 12 133764548 133764548 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000536435.2:c.124C>G p.Leu42Val p.L42V ENST00000536435 NM_003415.2 42 Ctg/Gtg 0 Missense_Mutation C 32 ZNF268 SNP 12 C G 132274621 132274621 Broad ADAD2 161931 broad.mit.edu GRCh37 16 84228562 84228562 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000268624.3:c.799C>T p.Pro267Ser p.P267S ENST00000268624 NM_139174.3 267 Cct/Tct 0 Missense_Mutation C 26 ADAD2 SNP 16 C T 82786063 82786063 Broad TP53 7157 broad.mit.edu GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T rs11540652 byHapMap TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 Missense_Mutation C 23 TP53 SNP 17 C T 7518263 7518263 Broad PNKP 11284 broad.mit.edu GRCh37 19 50365864 50365864 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000322344.3:c.867C>A p.Asp289Glu p.D289E ENST00000322344 NM_007254.3 289 gaC/gaA 0 Missense_Mutation G 40 PNKP SNP 19 G T 55057676 55057676 Broad CCDC104 112942 broad.mit.edu GRCh37 2 55756101 55756101 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000349456.4:c.370G>T p.Ala124Ser p.A124S ENST00000349456 124 Gcc/Tcc 0 Missense_Mutation G 34 CCDC104 SNP 2 G T 55609605 55609605 Broad UXS1 80146 broad.mit.edu GRCh37 2 106761805 106761805 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000283148.7:c.313G>C p.Val105Leu p.V105L ENST00000283148 NM_001253875.1 105 Gtg/Ctg 0 Missense_Mutation C 19 UXS1 SNP 2 C G 106128237 106128237 Broad RBMS1 5937 broad.mit.edu GRCh37 2 161349853 161349853 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000348849.3:c.22C>T p.Gln8Ter p.Q8* ENST00000348849 NM_002897.4 8 Cag/Tag 0 Nonsense_Mutation G 46 RBMS1 SNP 2 G A 161058099 161058099 Broad SP100 6672 broad.mit.edu GRCh37 2 231368939 231368939 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000340126.4:c.1804C>T p.Gln602Ter p.Q602* ENST00000340126 NM_001080391.1 602 Caa/Taa 0 Nonsense_Mutation C 17 SP100 SNP 2 C T 231077183 231077183 Broad LBP 3929 broad.mit.edu GRCh37 20 36983801 36983801 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000217407.2:c.580G>C p.Glu194Gln p.E194Q ENST00000217407 NM_004139.3 194 Gag/Cag 0 Missense_Mutation G 41 LBP SNP 20 G C 36417215 36417215 Broad SCN5A 6331 broad.mit.edu GRCh37 3 38646297 38646297 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000413689.1:c.1441C>T p.Arg481Trp p.R481W ENST00000413689 NM_001160160.1 481 Cgg/Tgg 0 Missense_Mutation G 40 SCN5A SNP 3 G A 38621301 38621301 Broad CCDC37 348807 broad.mit.edu GRCh37 3 126154467 126154467 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000352312.1:c.1694C>T p.Ala565Val p.A565V ENST00000352312 NM_182628.2 565 gCg/gTg 0 Missense_Mutation C 27 CCDC37 SNP 3 C T 127637157 127637157 Broad USP13 8975 broad.mit.edu GRCh37 3 179478937 179478937 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000263966.3:c.1986C>G p.Ala662= p.A662= ENST00000263966 NM_003940.2 662 gcC/gcG 0 Silent C 23 USP13 SNP 3 C G 180961631 180961631 Broad B3GNT5 84002 broad.mit.edu GRCh37 3 182988300 182988300 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000326505.3:c.714C>A p.Tyr238Ter p.Y238* ENST00000326505 NM_032047.4 238 taC/taA 0 Nonsense_Mutation C 19 B3GNT5 SNP 3 C A 184470994 184470994 Broad MAGEF1 64110 broad.mit.edu GRCh37 3 184429502 184429502 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000317897.3:c.108C>T p.Arg36= p.R36= ENST00000317897 NM_022149.4 36 cgC/cgT 0 Silent G 42 MAGEF1 SNP 3 G A 185912196 185912196 Broad PDLIM5 10611 broad.mit.edu GRCh37 4 95578684 95578684 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000514743.1:c.1658C>A p.Pro553His p.P553H ENST00000514743 NM_001256426.1 553 cCc/cAc 0 Missense_Mutation C 22 PDLIM5 SNP 4 C A 95797707 95797707 Broad ADAM29 11086 broad.mit.edu GRCh37 4 175896854 175896854 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000359240.3:c.178G>A p.Gly60Ser p.G60S ENST00000359240 NM_014269.4 60 Ggc/Agc 0 Missense_Mutation G 35 ADAM29 SNP 4 G A 176133429 176133429 Broad PLCXD3 345557 broad.mit.edu GRCh37 5 41510527 41510527 + splice_region_variant,synonymous_variant Splice_Region SNP T T A novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000377801.3:c.102A>T p.Pro34= p.P34= ENST00000377801 34 ccA/ccT 0 Silent T 55 PLCXD3 SNP 5 T A 41546284 41546284 Broad LATS1 9113 broad.mit.edu GRCh37 6 150001362 150001362 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000253339.5:c.2242G>A p.Ala748Thr p.A748T ENST00000253339 748 Gct/Act 0 Missense_Mutation C 27 LATS1 SNP 6 C T 150043055 150043055 Broad LAMB1 3912 broad.mit.edu GRCh37 7 107570040 107570040 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000222399.6:c.4562T>C p.Ile1521Thr p.I1521T ENST00000222399 NM_002291.2 1521 aTt/aCt 0 Missense_Mutation A 4 LAMB1 SNP 7 A G 107357276 107357276 Broad FOCAD 54914 broad.mit.edu GRCh37 9 20885120 20885120 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000380249.1:c.2516T>A p.Phe839Tyr p.F839Y ENST00000380249 NM_017794.3 839 tTt/tAt 0 Missense_Mutation T 64 KIAA1797 SNP 9 T A 20875120 20875120 Broad MOB3B 79817 broad.mit.edu GRCh37 9 27455162 27455162 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000262244.5:c.387C>T p.Ile129= p.I129= ENST00000262244 NM_024761.4 129 atC/atT 0 Silent G 45 MOBKL2B SNP 9 G A 27445162 27445162 Broad PCSK5 5125 broad.mit.edu GRCh37 9 78784684 78784684 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000545128.1:c.1684G>C p.Glu562Gln p.E562Q ENST00000545128 NM_001190482.1 562 Gaa/Caa 0 Missense_Mutation G 33 PCSK5 SNP 9 G C 77974504 77974504 Broad ROR2 4920 broad.mit.edu GRCh37 9 94487038 94487038 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000375708.3:c.1738G>T p.Asp580Tyr p.D580Y ENST00000375708 NM_004560.3 580 Gac/Tac 0 Missense_Mutation C 29 ROR2 SNP 9 C A 93526859 93526859 Broad OR2K2 26248 broad.mit.edu GRCh37 9 114089965 114089965 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000302681.1:c.749A>T p.Tyr250Phe p.Y250F ENST00000302681 NM_205859.1 250 tAt/tTt 0 Missense_Mutation T 49 OR2K2 SNP 9 T A 113129786 113129786 Broad NLGN4X 57502 broad.mit.edu GRCh37 X 5821627 5821627 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000381095.3:c.1092C>A p.Asn364Lys p.N364K ENST00000381095 NM_181332.1 364 aaC/aaA 0 Missense_Mutation G 36 NLGN4X SNP 23 G T 5831627 5831627 Broad DOCK11 139818 broad.mit.edu GRCh37 X 117706331 117706331 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000276202.7:c.1081G>C p.Glu361Gln p.E361Q ENST00000276202 NM_144658.3 361 Gaa/Caa 0 Missense_Mutation G 33 DOCK11 SNP 23 G C 117590359 117590359 Broad DDX26B 203522 broad.mit.edu GRCh37 X 134706755 134706755 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000370752.4:c.1303G>T p.Glu435Ter p.E435* ENST00000370752 NM_182540.4 435 Gaa/Taa 0 Nonsense_Mutation G 33 DDX26B SNP 23 G T 134534421 134534421 Broad SPANXN2 494119 broad.mit.edu GRCh37 X 142795567 142795567 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown x x x ENST00000370498.1:c.111C>A p.Pro37= p.P37= ENST00000370498 NM_001009615.1 37 ccC/ccA 0 Silent G 47 SPANXN2 SNP 23 G T 142623233 142623233 Broad TP53BP1 7158 broad.mit.edu GRCh37 15 43767836 43767841 + inframe_deletion In_Frame_Del DEL AAGCCA AAGCCA - novel Unknown TCGA-24-1419-01 TCGA-24-1419-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000382044.4:c.1007_1012del p.Leu336_Ala337del p.L336_A337del ENST00000382044 NM_001141980.1 336 tTGGCTTcc/tcc 0 In_Frame_Del AAGCCA 9 TP53BP1 DEL 15 - AAGCCA 41555133 41555128 Broad HSPG2 3339 broad.mit.edu GRCh37 1 22178133 22178133 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000374695.3:c.7064G>C p.Gly2355Ala p.G2355A ENST00000374695 NM_005529.5 2355 gGg/gCg 0 Missense_Mutation C 22 HSPG2 SNP 1 C G 22050720 22050720 Broad EPHB2 2048 broad.mit.edu GRCh37 1 23111184 23111184 + synonymous_variant Silent SNP A A C novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000374632.3:c.426A>C p.Ala142= p.A142= ENST00000374632 142 gcA/gcC 0 Silent A 7 EPHB2 SNP 1 A C 22983771 22983771 Broad CSMD2 114784 broad.mit.edu GRCh37 1 34128623 34128623 + synonymous_variant,NMD_transcript_variant Silent SNP C C T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000241312.4:c.4002G>A p.Glu1334= p.E1334= ENST00000241312 1334 gaG/gaA 0 Silent C 32 CSMD2 SNP 1 C T 33901210 33901210 Broad COL9A2 1298 broad.mit.edu GRCh37 1 40777384 40777384 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000372748.3:c.421G>A p.Asp141Asn p.D141N ENST00000372748 NM_001852.3 141 Gac/Aac 0 Missense_Mutation C 30 COL9A2 SNP 1 C T 40549971 40549971 Broad C1orf141 400757 broad.mit.edu GRCh37 1 67559074 67559074 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000371007.2:c.817C>G p.Pro273Ala p.P273A ENST00000371007 273 Cct/Gct 0 Missense_Mutation G 42 C1orf141 SNP 1 G C 67331662 67331662 Broad ST6GALNAC3 256435 broad.mit.edu GRCh37 1 76779491 76779491 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000328299.3:c.20G>T p.Arg7Ile p.R7I ENST00000328299 NM_152996.2 7 aGa/aTa 0 Missense_Mutation G 33 ST6GALNAC3 SNP 1 G T 76552079 76552079 Broad OVGP1 5016 broad.mit.edu GRCh37 1 111964026 111964026 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000369732.3:c.775G>A p.Gly259Arg p.G259R ENST00000369732 NM_002557.3 259 Ggg/Agg 0 Missense_Mutation C 22 OVGP1 SNP 1 C T 111765549 111765549 Broad LCE2B 26239 broad.mit.edu GRCh37 1 152659649 152659649 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000368780.3:c.330C>T p.Cys110= p.C110= ENST00000368780 NM_014357.4 110 tgC/tgT 0 Silent C 28 LCE2B SNP 1 C T 150926273 150926273 Broad ELF3 1999 broad.mit.edu GRCh37 1 201980352 201980352 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000359651.3:c.88C>T p.Pro30Ser p.P30S ENST00000359651 30 Ccc/Tcc 0 Missense_Mutation C 30 ELF3 SNP 1 C T 200246975 200246975 Broad PGBD5 79605 broad.mit.edu GRCh37 1 230513265 230513265 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000525115.1:c.103C>T p.Gln35Ter p.Q35* ENST00000525115 35 Cag/Tag 0 Nonsense_Mutation G 46 PGBD5 SNP 1 G A 228579888 228579888 Broad ZNF670 93474 broad.mit.edu GRCh37 1 247201191 247201191 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000366503.2:c.730G>A p.Glu244Lys p.E244K ENST00000366503 NM_001204220.1 244 Gaa/Aaa 0 Missense_Mutation C 29 ZNF670 SNP 1 C T 245267814 245267814 Broad FAM21C 253725 broad.mit.edu GRCh37 10 46272810 46272810 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000374362.2:c.2232G>C p.Lys744Asn p.K744N ENST00000374362 744 aaG/aaC 0 Missense_Mutation G 33 FAM21C SNP 10 G C 45592816 45592816 Broad PNLIPRP3 119548 broad.mit.edu GRCh37 10 118220544 118220544 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000369230.3:c.632C>G p.Ala211Gly p.A211G ENST00000369230 NM_001011709.2 211 gCc/gGc 0 Missense_Mutation C 26 PNLIPRP3 SNP 10 C G 118210534 118210534 Broad PAOX 196743 broad.mit.edu GRCh37 10 135195006 135195007 + missense_variant Missense_Mutation DNP GG GG AA novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000278060.5:c.711_712delinsAA p.Glu238Lys p.E238K ENST00000278060 NM_152911.2 237 ccGGag/ccAAag 0 Missense_Mutation GG 39 PAOX DNP 10 GG AA 135044997 135044996 Broad MICAL2 9645 broad.mit.edu GRCh37 11 12244975 12244975 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000256194.4:c.1467C>T p.Ile489= p.I489= ENST00000256194 NM_014632.2 489 atC/atT 0 Silent C 29 MICAL2 SNP 11 C T 12201551 12201551 Broad MICAL2 9645 broad.mit.edu GRCh37 11 12264259 12264259 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000256194.4:c.2598G>C p.Lys866Asn p.K866N ENST00000256194 NM_014632.2 866 aaG/aaC 0 Missense_Mutation G 33 MICAL2 SNP 11 G C 12220835 12220835 Broad OR8K3 219473 broad.mit.edu GRCh37 11 56085842 56085842 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000312711.1:c.60C>A p.Ile20= p.I20= ENST00000312711 NM_001005202.1 20 atC/atA 0 Silent C 31 OR8K3 SNP 11 C A 55842418 55842418 Broad TAF6L 10629 broad.mit.edu GRCh37 11 62545450 62545450 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000294168.3:c.235G>A p.Ala79Thr p.A79T ENST00000294168 NM_006473.3 79 Gct/Act 0 Missense_Mutation G 42 TAF6L SNP 11 G A 62302026 62302026 Broad FAT3 120114 broad.mit.edu GRCh37 11 92600070 92600070 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000298047.6:c.11822G>A p.Arg3941His p.R3941H ENST00000298047 3941 cGc/cAc 0 Missense_Mutation G 38 FAT3 SNP 11 G A 92239718 92239718 Broad KDELC2 143888 broad.mit.edu GRCh37 11 108350193 108350193 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000323468.5:c.1128C>T p.Thr376= p.T376= ENST00000323468 NM_153705.4 376 acC/acT 0 Silent G 39 KDELC2 SNP 11 G A 107855403 107855403 Broad VSIG2 23584 broad.mit.edu GRCh37 11 124621997 124621997 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000326621.5:c.37C>A p.Leu13Met p.L13M ENST00000326621 NM_014312.3 13 Ctg/Atg 0 Missense_Mutation G 35 VSIG2 SNP 11 G T 124127207 124127207 Broad CAPZA3 93661 broad.mit.edu GRCh37 12 18891609 18891609 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000317658.3:c.407G>C p.Gly136Ala p.G136A ENST00000317658 NM_033328.2 136 gGa/gCa 0 Missense_Mutation G 41 CAPZA3 SNP 12 G C 18782876 18782876 Broad ALG10B 144245 broad.mit.edu GRCh37 12 38710737 38710737 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000308742.4:c.42C>A p.Ser14Arg p.S14R ENST00000308742 NM_001013620.3 14 agC/agA 0 Missense_Mutation C 28 ALG10B SNP 12 C A 36997004 36997004 Broad OR10A7 121364 broad.mit.edu GRCh37 12 55615709 55615709 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000326258.1:c.901G>A p.Val301Ile p.V301I ENST00000326258 NM_001005280.1 301 Gtc/Atc 0 Missense_Mutation G 48 OR10A7 SNP 12 G A 53901976 53901976 Broad GALNT4 8693 broad.mit.edu GRCh37 12 89917956 89917956 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000529983.2:c.371G>C p.Cys124Ser p.C124S ENST00000529983 NM_003774.4 124 tGt/tCt 0 Missense_Mutation C 17 GALNT4 SNP 12 C G 88442087 88442087 Broad AMDHD1 144193 broad.mit.edu GRCh37 12 96356225 96356225 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000266736.2:c.906C>T p.Ala302= p.A302= ENST00000266736 NM_152435.2 302 gcC/gcT 0 Silent C 21 AMDHD1 SNP 12 C T 94880356 94880356 Broad ZFYVE26 23503 broad.mit.edu GRCh37 14 68268819 68268819 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000347230.4:c.1616C>T p.Ala539Val p.A539V ENST00000347230 NM_015346.3 539 gCg/gTg 0 Missense_Mutation G 38 ZFYVE26 SNP 14 G A 67338572 67338572 Broad TTLL5 23093 broad.mit.edu GRCh37 14 76211898 76211898 + synonymous_variant Silent SNP T T A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000298832.9:c.1461T>A p.Pro487= p.P487= ENST00000298832 NM_015072.4 487 ccT/ccA 0 Silent T 53 TTLL5 SNP 14 T A 75281651 75281651 Broad PDIA3 2923 broad.mit.edu GRCh37 15 44038793 44038793 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000300289.5:c.56C>T p.Ala19Val p.A19V ENST00000300289 NM_005313.4 19 gCc/gTc 0 Missense_Mutation C 26 PDIA3 SNP 15 C T 41826085 41826085 Broad PAQR5 54852 broad.mit.edu GRCh37 15 69696080 69696080 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000340965.3:c.912C>G p.Ile304Met p.I304M ENST00000340965 NM_001104554.1 304 atC/atG 0 Missense_Mutation C 32 PAQR5 SNP 15 C G 67483134 67483134 Broad NPIPB3 broad.mit.edu GRCh37 16 21416271 21416271 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000458643.2:c.437C>G p.Thr146Ser p.T146S ENST00000458643 146 aCt/aGt 0 Missense_Mutation G 36 NPIPL3 SNP 16 G C 21323772 21323772 Broad ESRP2 80004 broad.mit.edu GRCh37 16 68265187 68265187 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000473183.2:c.1605G>C p.Glu535Asp p.E535D ENST00000473183 535 gaG/gaC 0 Missense_Mutation C 28 ESRP2 SNP 16 C G 66822688 66822688 Broad CLEC18B 497190 broad.mit.edu GRCh37 16 74447537 74447537 + missense_variant Missense_Mutation SNP C C T rs58016779 Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000339953.5:c.494G>A p.Arg165Gln p.R165Q ENST00000339953 NM_001011880.2 165 cGg/cAg 0 Missense_Mutation C 23 CLEC18B SNP 16 C T 73005038 73005038 Broad PKD1L2 114780 broad.mit.edu GRCh37 16 81190525 81190525 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000525539.1:c.4064G>A p.Cys1355Tyr p.C1355Y ENST00000525539 NM_052892.3 1355 tGt/tAt 0 Missense_Mutation C 17 PKD1L2 SNP 16 C T 79748026 79748026 Broad TP53 7157 broad.mit.edu GRCh37 17 7578406 7578406 + missense_variant Missense_Mutation SNP C C T rs28934578 Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.524G>A p.Arg175His p.R175H ENST00000269305 NM_001126112.2 175 cGc/cAc 0 Missense_Mutation C 27 TP53 SNP 17 C T 7519131 7519131 Broad CD300E 342510 broad.mit.edu GRCh37 17 72613409 72613409 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000328630.3:c.236G>C p.Arg79Thr p.R79T ENST00000328630 79 aGa/aCa 0 Missense_Mutation C 32 CD300E SNP 17 C G 70125004 70125004 Broad TSEN54 283989 broad.mit.edu GRCh37 17 73519781 73519781 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000333213.6:c.1351G>C p.Asp451His p.D451H ENST00000333213 NM_207346.2 451 Gat/Cat 0 Missense_Mutation G 45 TSEN54 SNP 17 G C 71031376 71031376 Broad SLC25A10 1468 broad.mit.edu GRCh37 17 79682763 79682763 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000331531.5:c.369C>G p.Val123= p.V123= ENST00000331531 NM_001270888.1 123 gtC/gtG 0 Silent C 29 SLC25A10 SNP 17 C G 77293168 77293168 Broad ZGLP1 100125288 broad.mit.edu GRCh37 19 10415818 10415818 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000403903.3:c.765G>C p.Lys255Asn p.K255N ENST00000403903 NM_001103167.1 255 aaG/aaC 0 Missense_Mutation C 32 ZGLP1 SNP 19 C G 10276818 10276818 Broad MAN2B1 4125 broad.mit.edu GRCh37 19 12774203 12774203 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000456935.2:c.837G>T p.Val279= p.V279= ENST00000456935 NM_000528.3 279 gtG/gtT 0 Silent C 21 MAN2B1 SNP 19 C A 12635203 12635203 Broad MAST1 22983 broad.mit.edu GRCh37 19 12979505 12979505 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000251472.4:c.2615A>G p.Asp872Gly p.D872G ENST00000251472 NM_014975.2 872 gAt/gGt 0 Missense_Mutation A 12 MAST1 SNP 19 A G 12840505 12840505 Broad ZSWIM4 65249 broad.mit.edu GRCh37 19 13923970 13923971 + missense_variant Missense_Mutation DNP CC CC TG novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000254323.2:c.1172_1173delinsTG p.Pro391Leu p.P391L ENST00000254323 NM_023072.2 391 cCC/cTG 0 Missense_Mutation CC 22 ZSWIM4 DNP 19 CC TG 13784971 13784970 Broad EMR3 84658 broad.mit.edu GRCh37 19 14752392 14752392 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000253673.5:c.1087G>A p.Gly363Arg p.G363R ENST00000253673 NM_032571.3 363 Ggg/Agg 0 Missense_Mutation C 22 EMR3 SNP 19 C T 14613392 14613392 Broad UNC13A 23025 broad.mit.edu GRCh37 19 17785535 17785535 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000519716.2:c.83T>A p.Val28Glu p.V28E ENST00000519716 NM_001080421.2 28 gTg/gAg 0 Missense_Mutation A 6 UNC13A SNP 19 A T 17646535 17646535 Broad DYRK1B 9149 broad.mit.edu GRCh37 19 40321171 40321171 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000593685.1:c.216G>C p.Gln72His p.Q72H ENST00000593685 72 caG/caC 0 Missense_Mutation C 28 DYRK1B SNP 19 C G 45013011 45013011 Broad PXDN 7837 broad.mit.edu GRCh37 2 1652025 1652025 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000252804.4:c.3527A>C p.Tyr1176Ser p.Y1176S ENST00000252804 NM_012293.1 1176 tAc/tCc 0 Missense_Mutation T 57 PXDN SNP 2 T G 1631032 1631032 Broad EIF2B4 8890 broad.mit.edu GRCh37 2 27590650 27590650 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000451130.2:c.805T>C p.Ser269Pro p.S269P ENST00000451130 NM_172195.3 269 Tcc/Ccc 0 Missense_Mutation A 11 EIF2B4 SNP 2 A G 27444154 27444154 Broad PROM2 150696 broad.mit.edu GRCh37 2 95952260 95952260 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000317620.9:c.1981G>A p.Glu661Lys p.E661K ENST00000317620 NM_001165978.1 661 Gag/Aag 0 Missense_Mutation G 41 PROM2 SNP 2 G A 95315987 95315987 Broad LRP2 4036 broad.mit.edu GRCh37 2 170070307 170070307 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000263816.3:c.5900C>A p.Ala1967Glu p.A1967E ENST00000263816 NM_004525.2 1967 gCa/gAa 0 Missense_Mutation G 46 LRP2 SNP 2 G T 169778553 169778553 Broad MTX2 10651 broad.mit.edu GRCh37 2 177191609 177191609 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000249442.6:c.265G>A p.Val89Ile p.V89I ENST00000249442 NM_006554.4 89 Gtc/Atc 0 Missense_Mutation G 36 MTX2 SNP 2 G A 176899855 176899855 Broad COL4A4 1286 broad.mit.edu GRCh37 2 227872074 227872074 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000396625.3:c.5040C>A p.Ile1680= p.I1680= ENST00000396625 NM_000092.4 1680 atC/atA 0 Silent G 45 COL4A4 SNP 2 G T 227580318 227580318 Broad SPHKAP 80309 broad.mit.edu GRCh37 2 228855883 228855883 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000392056.3:c.4792C>A p.Pro1598Thr p.P1598T ENST00000392056 NM_001142644.1 1598 Cct/Act 0 Missense_Mutation G 42 SPHKAP SNP 2 G T 228564127 228564127 Broad GIGYF2 26058 broad.mit.edu GRCh37 2 233684544 233684544 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000409451.3:c.2441C>T p.Ala814Val p.A814V ENST00000409451 814 gCt/gTt 0 Missense_Mutation C 28 GIGYF2 SNP 2 C T 233392788 233392788 Broad AGXT 189 broad.mit.edu GRCh37 2 241817519 241817519 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000307503.3:c.1023C>A p.Asp341Glu p.D341E ENST00000307503 NM_000030.2 341 gaC/gaA 0 Missense_Mutation C 18 AGXT SNP 2 C A 241466192 241466192 Broad DNMT3B 1789 broad.mit.edu GRCh37 20 31390200 31390200 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000328111.2:c.2155G>T p.Val719Leu p.V719L ENST00000328111 NM_006892.3 719 Gtg/Ttg 0 Missense_Mutation G 36 DNMT3B SNP 20 G T 30853861 30853861 Broad BPIFB3 359710 broad.mit.edu GRCh37 20 31644409 31644409 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000375494.3:c.186T>C p.Ala62= p.A62= ENST00000375494 NM_182658.1 62 gcT/gcC 0 Silent T 55 C20orf185 SNP 20 T C 31108070 31108070 Broad RIMS4 140730 broad.mit.edu GRCh37 20 43386740 43386740 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000541604.2:c.325C>T p.Arg109Cys p.R109C ENST00000541604 109 Cgc/Tgc 0 Missense_Mutation G 39 RIMS4 SNP 20 G A 42820154 42820154 Broad ELMO2 63916 broad.mit.edu GRCh37 20 45004386 45004386 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000290246.6:c.851A>T p.His284Leu p.H284L ENST00000290246 NM_133171.3 284 cAt/cTt 0 Missense_Mutation T 51 ELMO2 SNP 20 T A 44437793 44437793 Broad CTCFL 140690 broad.mit.edu GRCh37 20 56099088 56099088 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000423479.3:c.174C>A p.Asp58Glu p.D58E ENST00000423479 NM_001269043.1 58 gaC/gaA 0 Missense_Mutation G 48 CTCFL SNP 20 G T 55532494 55532494 Broad ABCF3 55324 broad.mit.edu GRCh37 3 183909027 183909027 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000429586.2:c.1553A>T p.Glu518Val p.E518V ENST00000429586 NM_018358.2 518 gAg/gTg 0 Missense_Mutation A 11 ABCF3 SNP 3 A T 185391721 185391721 Broad MROH2B 133558 broad.mit.edu GRCh37 5 41048528 41048528 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000399564.4:c.1582G>C p.Ala528Pro p.A528P ENST00000399564 NM_173489.4 528 Gct/Cct 0 Missense_Mutation C 26 HEATR7B2 SNP 5 C G 41084285 41084285 Broad ACOT12 134526 broad.mit.edu GRCh37 5 80689815 80689815 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000307624.3:c.119G>T p.Cys40Phe p.C40F ENST00000307624 NM_130767.2 40 tGc/tTc 0 Missense_Mutation C 25 ACOT12 SNP 5 C A 80725571 80725571 Broad GMPR 2766 broad.mit.edu GRCh37 6 16290697 16290697 + synonymous_variant Silent SNP T T A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000259727.4:c.702T>A p.Ala234= p.A234= ENST00000259727 NM_006877.3 234 gcT/gcA 0 Silent T 55 GMPR SNP 6 T A 16398676 16398676 Broad OR5V1 81696 broad.mit.edu GRCh37 6 29323191 29323191 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000377154.1:c.782G>A p.Arg261Gln p.R261Q ENST00000377154 261 cGg/cAg 0 Missense_Mutation C 23 OR5V1 SNP 6 C T 29431170 29431170 Broad TFAP2D 83741 broad.mit.edu GRCh37 6 50740384 50740384 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000008391.3:c.1166C>T p.Pro389Leu p.P389L ENST00000008391 NM_172238.3 389 cCg/cTg 0 Missense_Mutation C 23 TFAP2D SNP 6 C T 50848343 50848343 Broad BAZ1B 9031 broad.mit.edu GRCh37 7 72907176 72907176 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000339594.4:c.647A>T p.Lys216Ile p.K216I ENST00000339594 NM_032408.3 216 aAa/aTa 0 Missense_Mutation T 64 BAZ1B SNP 7 T A 72545112 72545112 Broad ABCB1 5243 broad.mit.edu GRCh37 7 87173491 87173491 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000265724.3:c.2165G>T p.Gly722Val p.G722V ENST00000265724 NM_000927.4 722 gGa/gTa 0 Missense_Mutation C 30 ABCB1 SNP 7 C A 87011427 87011427 Broad BAIAP2L1 55971 broad.mit.edu GRCh37 7 97937073 97937073 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000005260.8:c.1091G>C p.Gly364Ala p.G364A ENST00000005260 NM_018842.4 364 gGa/gCa 0 Missense_Mutation C 30 BAIAP2L1 SNP 7 C G 97775009 97775009 Broad PLOD3 8985 broad.mit.edu GRCh37 7 100849632 100849633 + missense_variant Missense_Mutation DNP GT GT TG novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000223127.3:c.2146_2147delinsCA p.Thr716His p.T716H ENST00000223127 NM_001084.4 716 ACc/CAc 0 Missense_Mutation GT 44 PLOD3 DNP 7 GT TG 100636353 100636352 Broad DENND2A 27147 broad.mit.edu GRCh37 7 140302091 140302091 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000275884.6:c.107G>C p.Arg36Thr p.R36T ENST00000275884 36 aGa/aCa 0 Missense_Mutation C 32 DENND2A SNP 7 C G 139948560 139948560 Broad OR2A7 401427 broad.mit.edu GRCh37 7 143955998 143955998 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000493325.1:c.724T>C p.Ser242Pro p.S242P ENST00000493325 NM_001005328.1 242 Tcc/Ccc 0 Missense_Mutation A 11 OR2A7 SNP 7 A G 143586931 143586931 Broad EIF3E 3646 broad.mit.edu GRCh37 8 109240604 109240604 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000220849.5:c.614T>A p.Leu205His p.L205H ENST00000220849 NM_001568.2 205 cTt/cAt 0 Missense_Mutation A 3 EIF3E SNP 8 A T 109309780 109309780 Broad ASAP1 50807 broad.mit.edu GRCh37 8 131073206 131073206 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000357668.1:c.2811A>G p.Gly937= p.G937= ENST00000357668 937 ggA/ggG 0 Silent T 54 ASAP1 SNP 8 T C 131142388 131142388 Broad ERMP1 79956 broad.mit.edu GRCh37 9 5801200 5801200 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000339450.5:c.2043G>C p.Pro681= p.P681= ENST00000339450 NM_024896.2 681 ccG/ccC 0 Silent C 31 ERMP1 SNP 9 C G 5791200 5791200 Broad TMEM2 23670 broad.mit.edu GRCh37 9 74365245 74365245 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000377044.4:c.45A>G p.Gln15= p.Q15= ENST00000377044 NM_013390.2 15 caA/caG 0 Silent T 60 TMEM2 SNP 9 T C 73555065 73555065 Broad VAV2 7410 broad.mit.edu GRCh37 9 136677286 136677286 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000371850.3:c.502G>C p.Gly168Arg p.G168R ENST00000371850 NM_001134398.1 168 Ggg/Cgg 0 Missense_Mutation C 24 VAV2 SNP 9 C G 135667107 135667107 Broad THOC2 57187 broad.mit.edu GRCh37 X 122759896 122759896 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2077-01 TCGA-23-2077-10 Unknown Unknown Unknown x x x ENST00000245838.8:c.2924C>G p.Thr975Arg p.T975R ENST00000245838 NM_001081550.1 975 aCa/aGa 0 Missense_Mutation G 48 THOC2 SNP 23 G C 122587577 122587577 Broad DLGAP2 9228 genome.wustl.edu GRCh37 8 1497660 1497660 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000421627.2:c.801C>T p.Asn267= p.N267= ENST00000421627 NM_004745.4 267 aaC/aaT 0 Silent C 19 DLGAP2 SNP 8 C T 1485067 1485067 WashU WHSC1 7468 genome.wustl.edu GRCh37 4 1980538 1980538 + synonymous_variant Silent SNP A A C novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382891.5:c.4000A>C p.Arg1334= p.R1334= ENST00000382891 NM_133335.3 1334 Aga/Cga 0 Silent A 7 WHSC1 SNP 4 A C 1950336 1950336 WashU GNA12 2768 genome.wustl.edu GRCh37 7 2771257 2771257 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000275364.3:c.704G>A p.Arg235His p.R235H ENST00000275364 NM_007353.2 235 cGc/cAc 0 Missense_Mutation C 27 GNA12 SNP 7 C T 2737783 2737783 WashU CSMD1 64478 genome.wustl.edu GRCh37 8 2820044 2820044 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000537824.1:c.9572C>G p.Ser3191Cys p.S3191C ENST00000537824 NM_033225.5 3191 tCc/tGc 0 Missense_Mutation G 41 CSMD1 SNP 8 G C 2807451 2807451 WashU ANO2 57101 genome.wustl.edu GRCh37 12 5963224 5963224 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327087.8:c.606A>C p.Lys202Asn p.K202N ENST00000327087 NM_001278596.1 202 aaA/aaC 0 Missense_Mutation T 56 ANO2 SNP 12 T G 5833485 5833485 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578271 7578271 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.578A>G p.His193Arg p.H193R ENST00000269305 NM_001126112.2 193 cAt/cGt 0 Missense_Mutation T 51 TP53 SNP 17 C C 7518996 7518996 WashU PZP 5858 genome.wustl.edu GRCh37 12 9356365 9356365 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261336.2:c.266C>T p.Thr89Ile p.T89I ENST00000261336 NM_002864.2 89 aCt/aTt 0 Missense_Mutation G 36 PZP SNP 12 G A 9247632 9247632 WashU SLC2A9 56606 genome.wustl.edu GRCh37 4 9909889 9909889 + synonymous_variant Silent SNP C C A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264784.3:c.1083G>T p.Gly361= p.G361= ENST00000264784 NM_020041.2 361 ggG/ggT 0 Silent C 22 SLC2A9 SNP 4 C A 9518987 9518987 WashU MYCN 4613 genome.wustl.edu GRCh37 2 16085897 16085897 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000281043.3:c.1073C>T p.Pro358Leu p.P358L ENST00000281043 NM_005378.4 358 cCg/cTg 0 Missense_Mutation C 23 MYCN SNP 2 C T 16003348 16003348 WashU AP1M1 8907 genome.wustl.edu GRCh37 19 16314300 16314300 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000444449.2:c.73G>A p.Val25Met p.V25M ENST00000444449 NM_001130524.1 25 Gtg/Atg 0 Missense_Mutation G 40 AP1M1 SNP 19 G A 16175300 16175300 WashU CCNB1IP1 57820 genome.wustl.edu GRCh37 14 20781754 20781754 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398169.3:c.504T>A p.Asn168Lys p.N168K ENST00000398169 168 aaT/aaA 0 Missense_Mutation A 12 CCNB1IP1 SNP 14 A T 19851594 19851594 WashU ZNF729 100287226 genome.wustl.edu GRCh37 19 22499601 22499601 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000601693.1:c.3382G>T p.Gly1128Trp p.G1128W ENST00000601693 1128 Ggg/Tgg 0 Missense_Mutation G 47 LOC100130518 SNP 19 G T 22291441 22291441 WashU TRA2A 29896 genome.wustl.edu GRCh37 7 23561393 23561393 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297071.4:c.103G>C p.Gly35Arg p.G35R ENST00000297071 NM_013293.3 35 Gga/Cga 0 Missense_Mutation C 24 TRA2A SNP 7 C G 23527918 23527918 WashU CDH10 1008 genome.wustl.edu GRCh37 5 24488057 24488057 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264463.4:c.2082G>A p.Thr694= p.T694= ENST00000264463 NM_006727.3 694 acG/acA 0 Silent C 19 CDH10 SNP 5 C T 24523814 24523814 WashU VSX1 30813 genome.wustl.edu GRCh37 20 25062081 25062081 + intron_variant Intron SNP A A G novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000376709.4:c.424+228T>C *142* ENST00000376709 NM_014588.5 0 Missense_Mutation A 8 VSX1 SNP 20 A G 25010081 25010081 WashU CAD 790 genome.wustl.edu GRCh37 2 27454914 27454914 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264705.4:c.2467G>C p.Val823Leu p.V823L ENST00000264705 NM_004341.3 823 Gtg/Ctg 0 Missense_Mutation G 36 CAD SNP 2 G C 27308418 27308418 WashU FLT3 2322 genome.wustl.edu GRCh37 13 28608122 28608122 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000241453.7:c.1844T>C p.Val615Ala p.V615A ENST00000241453 NM_004119.2 615 gTa/gCa 0 Missense_Mutation A 14 FLT3 SNP 13 G G 27506122 27506122 WashU ITGAX 3687 genome.wustl.edu GRCh37 16 31373161 31373161 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268296.4:c.1017G>A p.Thr339= p.T339= ENST00000268296 NM_000887.3 339 acG/acA 0 Silent G 39 ITGAX SNP 16 G A 31280662 31280662 WashU PDZD2 23037 genome.wustl.edu GRCh37 5 32048781 32048781 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000438447.1:c.1656T>G p.Ser552Arg p.S552R ENST00000438447 552 agT/agG 0 Missense_Mutation T 59 PDZD2 SNP 5 T G 32084538 32084538 WashU NME8 51314 genome.wustl.edu GRCh37 7 37907476 37907476 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000199447.4:c.794G>T p.Gly265Val p.G265V ENST00000199447 NM_016616.4 265 gGa/gTa 0 Missense_Mutation G 41 TXNDC3 SNP 7 G T 37874001 37874001 WashU AOC2 314 genome.wustl.edu GRCh37 17 41001637 41001637 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253799.3:c.1894C>T p.Gln632Ter p.Q632* ENST00000253799 NM_009590.2 632 Cag/Tag 0 Nonsense_Mutation C 21 AOC2 SNP 17 C T 38255163 38255163 WashU GCHFR 2644 genome.wustl.edu GRCh37 15 41059450 41059450 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260447.4:c.158C>T p.Pro53Leu p.P53L ENST00000260447 NM_005258.2 53 cCc/cTc 0 Missense_Mutation C 22 GCHFR SNP 15 C T 38846742 38846742 WashU LRRK2 120892 genome.wustl.edu GRCh37 12 40688693 40688693 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298910.7:c.2855T>C p.Ile952Thr p.I952T ENST00000298910 NM_198578.3 952 aTa/aCa 0 Missense_Mutation T 49 LRRK2 SNP 12 T C 38974960 38974960 WashU ACBD4 79777 genome.wustl.edu GRCh37 17 43213977 43213977 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000431281.1:c.199C>T p.Arg67Ter p.R67* ENST00000431281 NM_001135704.1 67 Cga/Tga 0 Nonsense_Mutation C 19 ACBD4 SNP 17 C T 40569503 40569503 WashU PSENEN 55851 genome.wustl.edu GRCh37 19 36237686 36237686 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000587708.2:c.244C>T p.Arg82Trp p.R82W ENST00000587708 82 Cgg/Tgg 0 Missense_Mutation C 23 PSENEN SNP 19 C T 40929526 40929526 WashU SZT2 23334 genome.wustl.edu GRCh37 1 43896652 43896652 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000562955.1:c.4636G>A p.Val1546Ile p.V1546I ENST00000562955 NM_015284.3 1546 Gtt/Att 0 Missense_Mutation G 36 KIAA0467 SNP 1 G A 43669239 43669239 WashU CELSR3 1951 genome.wustl.edu GRCh37 3 48697823 48697823 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000164024.4:c.2245G>A p.Val749Ile p.V749I ENST00000164024 NM_001407.2 749 Gtt/Att 0 Missense_Mutation C 19 CELSR3 SNP 3 C T 48672827 48672827 WashU SLC1A7 6512 genome.wustl.edu GRCh37 1 53554599 53554599 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371494.4:c.1414A>T p.Ile472Phe p.I472F ENST00000371494 NM_006671.4 472 Atc/Ttc 0 Missense_Mutation T 50 SLC1A7 SNP 1 T A 53327187 53327187 WashU OR10A7 121364 genome.wustl.edu GRCh37 12 55615503 55615503 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326258.1:c.695C>T p.Thr232Ile p.T232I ENST00000326258 NM_001005280.1 232 aCt/aTt 0 Missense_Mutation C 20 OR10A7 SNP 12 C T 53901770 53901770 WashU ZNF274 10782 genome.wustl.edu GRCh37 19 58723004 58723004 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000326804.4:c.928G>T p.Glu310Ter p.E310* ENST00000326804 NM_133502.2 310 Gag/Tag 0 Nonsense_Mutation G 37 ZNF274 SNP 19 G T 63414816 63414816 WashU SNX15 29907 genome.wustl.edu GRCh37 11 64799920 64799920 + synonymous_variant Silent SNP G G T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377244.3:c.153G>T p.Arg51= p.R51= ENST00000377244 NM_013306.4 51 cgG/cgT 0 Silent G 44 SNX15 SNP 11 G T 64556496 64556496 WashU ATP6V1D 51382 genome.wustl.edu GRCh37 14 67805358 67805358 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216442.7:c.724G>A p.Glu242Lys p.E242K ENST00000216442 NM_015994.3 242 Gag/Aag 0 Missense_Mutation C 31 ATP6V1D SNP 14 C T 66875111 66875111 WashU CSN3 1448 genome.wustl.edu GRCh37 4 71114806 71114806 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304954.3:c.179C>A p.Thr60Asn p.T60N ENST00000304954 NM_005212.2 60 aCc/aAc 0 Missense_Mutation C 18 CSN3 SNP 4 C A 71149395 71149395 WashU ADAMTS14 140766 genome.wustl.edu GRCh37 10 72492028 72492028 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373208.1:c.1130G>A p.Gly377Asp p.G377D ENST00000373208 NM_139155.2 377 gGc/gAc 0 Missense_Mutation G 42 ADAMTS14 SNP 10 G A 72162034 72162034 WashU GTF2IRD1 9569 genome.wustl.edu GRCh37 7 73944096 73944096 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000455841.2:c.1219G>A p.Val407Met p.V407M ENST00000455841 NM_001199207.1 407 Gtg/Atg 0 Missense_Mutation G 40 GTF2IRD1 SNP 7 G A 73582032 73582032 WashU MYF5 4617 genome.wustl.edu GRCh37 12 81112214 81112214 + splice_donor_variant Splice_Site SNP T T G novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000228644.3:c.577+2T>G p.X193_splice ENST00000228644 NM_005593.2 0 Splice_Site_SNP T 57 MYF5 SNP 12 T G 79636345 79636345 WashU CERS3 204219 genome.wustl.edu GRCh37 15 101013152 101013152 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000284382.4:c.715G>A p.Asp239Asn p.D239N ENST00000284382 NM_178842.3 239 Gat/Aat 0 Missense_Mutation C 31 LASS3 SNP 15 T T 98830675 98830675 WashU IL18RAP 8807 genome.wustl.edu GRCh37 2 103057835 103057835 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264260.2:c.794T>A p.Leu265His p.L265H ENST00000264260 NM_003853.2 265 cTt/cAt 0 Missense_Mutation T 56 IL18RAP SNP 2 T A 102424267 102424267 WashU AIM1 202 genome.wustl.edu GRCh37 6 106968144 106968144 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369066.3:c.1837C>T p.Leu613Phe p.L613F ENST00000369066 NM_001624.2 613 Ctc/Ttc 0 Missense_Mutation C 28 AIM1 SNP 6 C T 107074837 107074837 WashU LAMB4 22798 genome.wustl.edu GRCh37 7 107678032 107678032 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000388781.3:c.4480G>C p.Val1494Leu p.V1494L ENST00000388781 NM_007356.2 1494 Gtg/Ctg 0 Missense_Mutation C 19 LAMB4 SNP 7 C G 107465268 107465268 WashU HENMT1 113802 genome.wustl.edu GRCh37 1 109197423 109197423 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370032.5:c.313A>C p.Asn105His p.N105H ENST00000370032 NM_144584.2 105 Aat/Cat 0 Missense_Mutation T 62 C1orf59 SNP 1 T G 108998946 108998946 WashU RFX6 222546 genome.wustl.edu GRCh37 6 117232163 117232163 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000332958.2:c.738C>T p.Ser246= p.S246= ENST00000332958 NM_173560.3 246 agC/agT 0 Silent C 27 RFX6 SNP 6 C T 117338856 117338856 WashU FEZF1 389549 genome.wustl.edu GRCh37 7 121943817 121943817 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000442488.2:c.675G>C p.Gln225His p.Q225H ENST00000442488 NM_001160264.1 225 caG/caC 0 Missense_Mutation C 28 FEZF1 SNP 7 C G 121731053 121731053 WashU GJA1 2697 genome.wustl.edu GRCh37 6 121768858 121768858 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282561.3:c.865G>C p.Val289Leu p.V289L ENST00000282561 NM_000165.3 289 Gtt/Ctt 0 Missense_Mutation G 44 GJA1 SNP 6 G C 121810557 121810557 WashU LAMC3 10319 genome.wustl.edu GRCh37 9 133942439 133942439 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361069.4:c.2440G>A p.Gly814Arg p.G814R ENST00000361069 NM_006059.3 814 Ggg/Agg 0 Missense_Mutation G 39 LAMC3 SNP 9 G A 132932260 132932260 WashU TRAF2 7186 genome.wustl.edu GRCh37 9 139814809 139814809 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000247668.2:c.802C>T p.Leu268Phe p.L268F ENST00000247668 NM_021138.3 268 Ctc/Ttc 0 Missense_Mutation C 28 TRAF2 SNP 9 C T 138934630 138934630 WashU MRAS 22808 genome.wustl.edu GRCh37 3 138117370 138117370 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000289104.4:c.407T>G p.Ile136Ser p.I136S ENST00000289104 NM_012219.4 136 aTc/aGc 0 Missense_Mutation T 50 MRAS SNP 3 T G 139600060 139600060 WashU PCDHB11 56125 genome.wustl.edu GRCh37 5 140580437 140580437 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354757.3:c.1090G>A p.Val364Met p.V364M ENST00000354757 NM_018931.2 364 Gtg/Atg 0 Missense_Mutation G 40 PCDHB11 SNP 5 G A 140560621 140560621 WashU CLGN 1047 genome.wustl.edu GRCh37 4 141321660 141321660 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000325617.5:c.545C>G p.Pro182Arg p.P182R ENST00000325617 NM_004362.2 182 cCa/cGa 0 Missense_Mutation G 47 CLGN SNP 4 G C 141541110 141541110 WashU FLNA 2316 genome.wustl.edu GRCh37 X 153577752 153577752 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000369850.3:c.7734C>T p.Phe2578= p.F2578= ENST00000369850 NM_001110556.1 2578 ttC/ttT 0 Silent G 45 FLNA SNP 23 G A 153230946 153230946 WashU CD1C 911 genome.wustl.edu GRCh37 1 158262529 158262529 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368170.3:c.754G>T p.Gly252Cys p.G252C ENST00000368170 NM_001765.2 252 Ggt/Tgt 0 Missense_Mutation G 47 CD1C SNP 1 G T 156529153 156529153 WashU SCN9A 6335 genome.wustl.edu GRCh37 2 167108389 167108389 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409672.1:c.3325A>T p.Asn1109Tyr p.N1109Y ENST00000409672 NM_002977.3 1109 Aac/Tac 0 Missense_Mutation T 64 SCN9A SNP 2 T A 166816635 166816635 WashU LRP2 4036 genome.wustl.edu GRCh37 2 170129508 170129508 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263816.3:c.2045A>T p.Asn682Ile p.N682I ENST00000263816 NM_004525.2 682 aAt/aTt 0 Missense_Mutation T 52 LRP2 SNP 2 T A 169837754 169837754 WashU TTN 7273 genome.wustl.edu GRCh37 2 179495021 179495021 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.44228G>T p.Gly14743Val p.G14743V ENST00000589042 NM_001267550.1 14743 gGg/gTg 0 Missense_Mutation C 22 TTN SNP 2 A A 179203266 179203266 WashU ETNK2 55224 genome.wustl.edu GRCh37 1 204115852 204115852 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367202.4:c.559G>A p.Ala187Thr p.A187T ENST00000367202 NM_018208.2 187 Gcc/Acc 0 Missense_Mutation C 27 ETNK2 SNP 1 C T 202382475 202382475 WashU TRAF3IP3 80342 genome.wustl.edu GRCh37 1 209948835 209948835 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367024.1:c.915+1G>T p.X305_splice ENST00000367024 0 Splice_Site_SNP G 44 TRAF3IP3 SNP 1 G T 208015458 208015458 WashU ILKAP 80895 genome.wustl.edu GRCh37 2 239092348 239092348 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000254654.3:c.660G>A p.Thr220= p.T220= ENST00000254654 NM_030768.2 220 acG/acA 0 Silent C 19 ILKAP SNP 2 C T 238757087 238757087 WashU E2F5 1875 genome.wustl.edu GRCh37 8 86125997 86125997 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 T T A T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000416274.2:c.941T>A p.Leu314His p.L314H ENST00000416274 NM_001083588.1 314 cTc/cAc 0 Missense_Mutation T 54 E2F5 SNP 8 A T 86313249 86313249 WashU AMER1 139285 genome.wustl.edu GRCh37 X 63410536 63410536 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-0369-01 TCGA-09-0369-10 G A G G Unknown Valid Somatic Phase_III Capture Sequenom_PCR_WGA dbGAP Illumina GAIIx ENST00000330258.3:c.2631C>T p.Gly877= p.G877= ENST00000330258 NM_152424.3 877 ggC/ggT 0 Silent G 42 FAM123B SNP 23 G A 63327261 63327261 WashU ATG2A 23130 genome.wustl.edu GRCh37 11 64679721 64679721 + missense_variant,splice_region_variant Missense_Mutation SNP T T A Unknown TCGA-09-0369-01 TCGA-09-0369-10 T T T A T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000377264.3:c.923A>T p.Asp308Val p.D308V ENST00000377264 NM_015104.2 308 gAc/gTc 0 Missense_Mutation T 58 ATG2A SNP 11 T A 64436297 64436297 WashU MFGE8 4240 genome.wustl.edu GRCh37 15 89450599 89450599 + missense_variant Missense_Mutation SNP C C G Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C G C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000268150.8:c.214G>C p.Glu72Gln p.E72Q ENST00000268150 NM_005928.2 72 Gag/Cag 0 Missense_Mutation C 31 MFGE8 SNP 15 C G 87251603 87251603 WashU GPR62 118442 genome.wustl.edu GRCh37 3 51990611 51990611 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000322241.4:c.943G>A p.Ala315Thr p.A315T ENST00000322241 NM_080865.3 315 Gcc/Acc 0 Missense_Mutation G 42 GPR62 SNP 3 G A 51965651 51965651 WashU PCDHA2 56146 genome.wustl.edu GRCh37 5 140176419 140176419 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000526136.1:c.1870G>A p.Val624Met p.V624M ENST00000526136 NM_018905.2 624 Gtg/Atg 0 Missense_Mutation G 40 PCDHA2 SNP 5 G A 140156603 140156603 WashU SUMF2 25870 genome.wustl.edu GRCh37 7 56147289 56147289 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-09-0369-01 TCGA-09-0369-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000342190.6:c.802C>T p.Arg268Cys p.R268C ENST00000342190 NM_001130069.2 268 Cgc/Tgc 0 Missense_Mutation C 23 SUMF2 SNP 7 C T 56114783 56114783 WashU VAV2 7410 genome.wustl.edu GRCh37 9 136726544 136726544 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-09-0369-01 TCGA-09-0369-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000371850.3:c.332C>T p.Ala111Val p.A111V ENST00000371850 NM_001134398.1 111 gCg/gTg 0 Missense_Mutation G 38 VAV2 SNP 9 G A 135716365 135716365 WashU CAMTA1 23261 broad.mit.edu GRCh37 1 7811267 7811267 + synonymous_variant Silent SNP T T A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000303635.7:c.4698T>A p.Leu1566= p.L1566= ENST00000303635 NM_015215.2 1566 ctT/ctA 0 Silent T 64 CAMTA1 SNP 1 T A 7733854 7733854 Broad C8B 732 broad.mit.edu GRCh37 1 57415368 57415368 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000371237.4:c.724C>G p.Arg242Gly p.R242G ENST00000371237 NM_000066.3 242 Cgc/Ggc 0 Missense_Mutation G 40 C8B SNP 1 G C 57187956 57187956 Broad ZZZ3 26009 broad.mit.edu GRCh37 1 78041807 78041807 + synonymous_variant Silent SNP A A G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000370801.3:c.2277T>C p.Asp759= p.D759= ENST00000370801 NM_015534.4 759 gaT/gaC 0 Silent A 8 ZZZ3 SNP 1 A G 77814395 77814395 Broad SORT1 6272 broad.mit.edu GRCh37 1 109870143 109870143 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000256637.6:c.1452C>T p.Ala484= p.A484= ENST00000256637 NM_002959.5 484 gcC/gcT 0 Silent G 39 SORT1 SNP 1 G A 109671666 109671666 Broad FLG2 388698 broad.mit.edu GRCh37 1 152325862 152325862 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000388718.5:c.4400C>T p.Thr1467Ile p.T1467I ENST00000388718 NM_001014342.2 1467 aCt/aTt 0 Missense_Mutation G 36 FLG2 SNP 1 G A 150592486 150592486 Broad S100A2 6273 broad.mit.edu GRCh37 1 153533949 153533949 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000368708.3:c.260A>G p.Asn87Ser p.N87S ENST00000368708 NM_005978.3 87 aAt/aGt 0 Missense_Mutation T 52 S100A2 SNP 1 T C 151800573 151800573 Broad RUSC1-AS1 broad.mit.edu GRCh37 1 155291124 155291124 + non_coding_transcript_exon_variant RNA SNP T T G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000446880.1:n.212A>C *71* ENST00000446880 0 Silent T 58 C1orf104 SNP 1 T G 153557748 153557748 Broad ATP1A4 480 broad.mit.edu GRCh37 1 160128842 160128842 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000368081.4:c.576G>A p.Glu192= p.E192= ENST00000368081 NM_144699.3 192 gaG/gaA 0 Silent G 35 ATP1A4 SNP 1 G A 158395466 158395466 Broad SCYL3 57147 broad.mit.edu GRCh37 1 169823884 169823884 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000367772.4:c.1696G>A p.Glu566Lys p.E566K ENST00000367772 NM_181093.3 566 Gaa/Aaa 0 Missense_Mutation C 30 SCYL3 SNP 1 C T 168090508 168090508 Broad RGL1 23179 broad.mit.edu GRCh37 1 183874041 183874041 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000304685.4:c.1513A>C p.Met505Leu p.M505L ENST00000304685 NM_015149.3 505 Atg/Ctg 0 Missense_Mutation A 8 RGL1 SNP 1 A C 182140664 182140664 Broad HMCN1 83872 broad.mit.edu GRCh37 1 186008099 186008099 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000271588.4:c.5990C>G p.Ala1997Gly p.A1997G ENST00000271588 NM_031935.2 1997 gCt/gGt 0 Missense_Mutation C 28 HMCN1 SNP 1 C G 184274722 184274722 Broad CFH 3075 broad.mit.edu GRCh37 1 196695952 196695952 + synonymous_variant Silent SNP C C A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000367429.4:c.2118C>A p.Ser706= p.S706= ENST00000367429 NM_000186.3 706 tcC/tcA 0 Silent C 22 CFH SNP 1 C A 194962575 194962575 Broad HEATR1 55127 broad.mit.edu GRCh37 1 236748330 236748330 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000366582.3:c.2236G>A p.Ala746Thr p.A746T ENST00000366582 NM_018072.5 746 Gca/Aca 0 Missense_Mutation C 25 HEATR1 SNP 1 C T 234814953 234814953 Broad FMN2 56776 broad.mit.edu GRCh37 1 240370875 240370875 + synonymous_variant Silent SNP T T C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000319653.9:c.2763T>C p.Pro921= p.P921= ENST00000319653 NM_020066.4 921 ccT/ccC 0 Silent T 54 FMN2 SNP 1 T C 238437498 238437498 Broad JMJD1C 221037 broad.mit.edu GRCh37 10 64960235 64960235 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000399262.2:c.5276+1G>T p.X1759_splice ENST00000399262 NM_032776.1 0 Splice_Site_SNP C 18 JMJD1C SNP 10 C A 64630241 64630241 Broad DNA2 1763 broad.mit.edu GRCh37 10 70225458 70225458 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000399180.2:c.811C>G p.Gln271Glu p.Q271E ENST00000399180 271 Caa/Gaa 0 Missense_Mutation G 45 DNA2 SNP 10 G C 69895464 69895464 Broad MICU1 10367 broad.mit.edu GRCh37 10 74135575 74135575 + synonymous_variant Silent SNP C C G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000361114.5:c.1236G>C p.Val412= p.V412= ENST00000361114 NM_001195518.1 412 gtG/gtC 0 Silent C 17 CBARA1 SNP 10 C G 73805581 73805581 Broad LRIT2 340745 broad.mit.edu GRCh37 10 85985240 85985240 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000372113.4:c.37G>A p.Val13Ile p.V13I ENST00000372113 NM_001017924.2 13 Gtc/Atc 0 Missense_Mutation C 18 LRIT2 SNP 10 C T 85975220 85975220 Broad SEC31B 25956 broad.mit.edu GRCh37 10 102255224 102255224 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000370345.3:c.2390C>G p.Pro797Arg p.P797R ENST00000370345 NM_015490.3 797 cCc/cGc 0 Missense_Mutation G 43 SEC31B SNP 10 G C 102245214 102245214 Broad DEPDC7 91614 broad.mit.edu GRCh37 11 33054966 33054966 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000241051.3:c.1501C>A p.His501Asn p.H501N ENST00000241051 NM_001077242.1 501 Cac/Aac 0 Missense_Mutation C 29 DEPDC7 SNP 11 C A 33011542 33011542 Broad GANAB 23193 broad.mit.edu GRCh37 11 62398582 62398582 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000346178.4:c.1136C>G p.Ser379Ter p.S379* ENST00000346178 NM_198335.3 379 tCa/tGa 0 Nonsense_Mutation G 45 GANAB SNP 11 G C 62155158 62155158 Broad GALNT8 26290 broad.mit.edu GRCh37 12 4853717 4853717 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000252318.2:c.711G>C p.Lys237Asn p.K237N ENST00000252318 NM_017417.1 237 aaG/aaC 0 Missense_Mutation G 34 GALNT8 SNP 12 G C 4723978 4723978 Broad TAS2R8 50836 broad.mit.edu GRCh37 12 10958714 10958714 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000240615.2:c.866A>G p.Asn289Ser p.N289S ENST00000240615 NM_023918.1 289 aAt/aGt 0 Missense_Mutation T 52 TAS2R8 SNP 12 T C 10849981 10849981 Broad PIK3C2G 5288 broad.mit.edu GRCh37 12 18499747 18499747 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000266497.5:c.1602C>T p.Asn534= p.N534= ENST00000266497 534 aaC/aaT 0 Silent C 17 PIK3C2G SNP 12 C T 18391014 18391014 Broad KMT2D 8085 broad.mit.edu GRCh37 12 49432061 49432061 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000301067.7:c.9078C>T p.Gly3026= p.G3026= ENST00000301067 NM_003482.3 3026 ggC/ggT 0 Silent G 46 MLL2 SNP 12 G A 47718328 47718328 Broad KRT6B 3854 broad.mit.edu GRCh37 12 52843335 52843335 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000252252.3:c.995G>C p.Ser332Thr p.S332T ENST00000252252 NM_005555.3 332 aGc/aCc 0 Missense_Mutation C 28 KRT6B SNP 12 C G 51129602 51129602 Broad TIMELESS 8914 broad.mit.edu GRCh37 12 56817375 56817375 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000553532.1:c.2083C>T p.Leu695= p.L695= ENST00000553532 695 Ctg/Ttg 0 Silent G 35 TIMELESS SNP 12 G A 55103642 55103642 Broad PPP1R12A 4659 broad.mit.edu GRCh37 12 80199435 80199435 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000450142.2:c.1937C>G p.Thr646Arg p.T646R ENST00000450142 NM_002480.2 646 aCa/aGa 0 Missense_Mutation G 48 PPP1R12A SNP 12 G C 78723566 78723566 Broad POC1B 282809 broad.mit.edu GRCh37 12 89864231 89864231 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000313546.3:c.717G>A p.Ser239= p.S239= ENST00000313546 NM_172240.2 239 tcG/tcA 0 Silent C 23 POC1B SNP 12 C T 88388362 88388362 Broad AMER2 219287 broad.mit.edu GRCh37 13 25743819 25743819 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000515384.1:c.1939C>T p.Arg647Cys p.R647C ENST00000515384 647 Cgc/Tgc 0 Missense_Mutation G 39 FAM123A SNP 13 G A 24641819 24641819 Broad LPAR6 10161 broad.mit.edu GRCh37 13 48986113 48986113 + synonymous_variant Silent SNP T T G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000378434.4:c.447A>C p.Ala149= p.A149= ENST00000378434 NM_005767.5 149 gcA/gcC 0 Silent T 59 LPAR6 SNP 13 T G 47884114 47884114 Broad RPGRIP1 57096 broad.mit.edu GRCh37 14 21793543 21793543 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000400017.2:c.2367+1G>T p.X789_splice ENST00000400017 NM_020366.3 0 Splice_Site_SNP G 44 RPGRIP1 SNP 14 G T 20863383 20863383 Broad AHNAK2 113146 broad.mit.edu GRCh37 14 105415174 105415174 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000333244.5:c.6614C>A p.Pro2205His p.P2205H ENST00000333244 NM_138420.2 2205 cCc/cAc 0 Missense_Mutation G 43 AHNAK2 SNP 14 G T 104486219 104486219 Broad DISP2 85455 broad.mit.edu GRCh37 15 40661346 40661346 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000267889.3:c.3033G>A p.Glu1011= p.E1011= ENST00000267889 NM_033510.1 1011 gaG/gaA 0 Silent G 36 DISP2 SNP 15 G A 38448638 38448638 Broad CDAN1 146059 broad.mit.edu GRCh37 15 43017755 43017755 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000356231.3:c.3382C>T p.Pro1128Ser p.P1128S ENST00000356231 NM_138477.2 1128 Ccg/Tcg 0 Missense_Mutation G 42 CDAN1 SNP 15 G A 40805047 40805047 Broad DMXL2 23312 broad.mit.edu GRCh37 15 51828931 51828931 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000543779.2:c.1746G>C p.Glu582Asp p.E582D ENST00000543779 582 gaG/gaC 0 Missense_Mutation C 24 DMXL2 SNP 15 C G 49616223 49616223 Broad LRRC49 54839 broad.mit.edu GRCh37 15 71302332 71302332 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000560369.1:c.1608+1G>A p.X536_splice ENST00000560369 0 Splice_Site_SNP G 44 LRRC49 SNP 15 G A 69089386 69089386 Broad EDC3 80153 broad.mit.edu GRCh37 15 74964117 74964117 + splice_acceptor_variant Splice_Site SNP T T C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000315127.4:c.165-2A>G p.X55_splice ENST00000315127 NM_025083.3 0 Splice_Site_SNP T 55 EDC3 SNP 15 T C 72751170 72751170 Broad PEAK1 79834 broad.mit.edu GRCh37 15 77472051 77472051 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000560626.2:c.2218G>A p.Glu740Lys p.E740K ENST00000560626 740 Gag/Aag 0 Missense_Mutation C 32 SGK269 SNP 15 C T 75259106 75259106 Broad IQGAP1 8826 broad.mit.edu GRCh37 15 91029272 91029272 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000268182.5:c.3932A>G p.Asp1311Gly p.D1311G ENST00000268182 NM_003870.3 1311 gAt/gGt 0 Missense_Mutation A 12 IQGAP1 SNP 15 A G 88830276 88830276 Broad BLM 641 broad.mit.edu GRCh37 15 91290711 91290711 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000355112.3:c.89C>G p.Pro30Arg p.P30R ENST00000355112 NM_000057.2 30 cCa/cGa 0 Missense_Mutation C 21 BLM SNP 15 C G 89091715 89091715 Broad ERN2 10595 broad.mit.edu GRCh37 16 23713839 23713839 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000256797.4:c.1097C>A p.Ala366Asp p.A366D ENST00000256797 NM_033266.3 366 gCc/gAc 0 Missense_Mutation G 42 ERN2 SNP 16 G T 23621340 23621340 Broad NOL3 8996 broad.mit.edu GRCh37 16 67208591 67208591 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000568146.1:c.353G>T p.Gly118Val p.G118V ENST00000568146 118 gGa/gTa 0 Silent G 41 NOL3 SNP 16 G T 65766092 65766092 Broad VPS9D1 9605 broad.mit.edu GRCh37 16 89776184 89776184 + splice_donor_variant Splice_Site SNP C C G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000389386.3:c.1388+1G>C p.X463_splice ENST00000389386 NM_004913.2 0 Splice_Site_SNP C 18 C16orf7 SNP 16 C G 88303685 88303685 Broad DNAH9 1770 broad.mit.edu GRCh37 17 11872710 11872710 + missense_variant Missense_Mutation SNP C C T rs9913494 byCluster;byHapMap TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000262442.4:c.13327C>T p.Arg4443Cys p.R4443C ENST00000262442 NM_001372.3 4443 Cgc/Tgc 0 Missense_Mutation C 23 DNAH9 SNP 17 C T 11813435 11813435 Broad CDK12 51755 broad.mit.edu GRCh37 17 37673769 37673769 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000447079.4:c.2923A>G p.Lys975Glu p.K975E ENST00000447079 NM_015083.1 975 Aag/Gag 0 Missense_Mutation A 9 CDK12 SNP 17 A G 34927295 34927295 Broad SGCA 6442 broad.mit.edu GRCh37 17 48247635 48247635 + synonymous_variant Silent SNP C C A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000262018.3:c.879C>A p.Thr293= p.T293= ENST00000262018 NM_000023.2 293 acC/acA 0 Silent C 22 SGCA SNP 17 C A 45602634 45602634 Broad MAP2K6 5608 broad.mit.edu GRCh37 17 67517194 67517194 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000590474.1:c.488T>G p.Val163Gly p.V163G ENST00000590474 NM_002758.3 163 gTa/gGa 0 Missense_Mutation T 57 MAP2K6 SNP 17 T G 65028789 65028789 Broad CCDC178 374864 broad.mit.edu GRCh37 18 30795568 30795568 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000383096.3:c.2024T>A p.Leu675Ter p.L675* ENST00000383096 675 tTa/tAa 0 Nonsense_Mutation A 13 C18orf34 SNP 18 A T 29049566 29049566 Broad SAFB2 9667 broad.mit.edu GRCh37 19 5616291 5616291 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000252542.4:c.395G>A p.Ser132Asn p.S132N ENST00000252542 NM_014649.2 132 aGt/aAt 0 Missense_Mutation C 20 SAFB2 SNP 19 C T 5567291 5567291 Broad FBN3 84467 broad.mit.edu GRCh37 19 8145997 8145997 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000600128.1:c.7343A>G p.Asp2448Gly p.D2448G ENST00000600128 2448 gAc/gGc 0 Missense_Mutation T 58 FBN3 SNP 19 T C 8051997 8051997 Broad MUC16 94025 broad.mit.edu GRCh37 19 9086728 9086728 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000397910.4:c.5087C>G p.Ser1696Ter p.S1696* ENST00000397910 NM_024690.2 1696 tCa/tGa 0 Nonsense_Mutation G 45 MUC16 SNP 19 G C 8947728 8947728 Broad COL5A3 50509 broad.mit.edu GRCh37 19 10090669 10090669 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000264828.3:c.2658+1G>T p.X886_splice ENST00000264828 NM_015719.3 0 Splice_Site_SNP C 17 COL5A3 SNP 19 C A 9951669 9951669 Broad SLC44A2 57153 broad.mit.edu GRCh37 19 10746124 10746124 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000335757.5:c.1166A>G p.Asn389Ser p.N389S ENST00000335757 389 aAc/aGc 0 Missense_Mutation A 2 SLC44A2 SNP 19 A G 10607124 10607124 Broad RYR1 6261 broad.mit.edu GRCh37 19 39023345 39023345 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000359596.3:c.11228A>G p.Glu3743Gly p.E3743G ENST00000359596 3743 gAa/gGa 0 Missense_Mutation A 9 RYR1 SNP 19 A G 43715185 43715185 Broad TIMM50 92609 broad.mit.edu GRCh37 19 39978811 39978811 + synonymous_variant Silent SNP C C G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000314349.4:c.1116C>G p.Gly372= p.G372= ENST00000314349 NM_001001563.1 372 ggC/ggG 0 Silent C 25 TIMM50 SNP 19 C G 44670651 44670651 Broad CIC 23152 broad.mit.edu GRCh37 19 42793479 42793479 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000575354.2:c.1281G>C p.Gln427His p.Q427H ENST00000575354 NM_015125.3 427 caG/caC 0 Missense_Mutation G 34 CIC SNP 19 G C 47485319 47485319 Broad CCDC8 83987 broad.mit.edu GRCh37 19 46915211 46915211 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000307522.3:c.857G>C p.Gly286Ala p.G286A ENST00000307522 NM_032040.4 286 gGt/gCt 0 Missense_Mutation C 18 CCDC8 SNP 19 C G 51607051 51607051 Broad LMTK3 114783 broad.mit.edu GRCh37 19 48994461 48994461 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000270238.3:c.4357C>T p.Pro1453Ser p.P1453S ENST00000270238 NM_001080434.1 1453 Cct/Tct 0 Missense_Mutation G 43 LMTK3 SNP 19 G A 53686273 53686273 Broad BCL2L12 83596 broad.mit.edu GRCh37 19 50176980 50176980 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000246785.3:c.980T>C p.Val327Ala p.V327A ENST00000246785 NM_138639.1 327 gTg/gCg 0 Missense_Mutation T 59 BCL2L12 SNP 19 T C 54868792 54868792 Broad ZSCAN5A 79149 broad.mit.edu GRCh37 19 56734000 56734000 + synonymous_variant Silent SNP T T A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000587340.1:c.699A>T p.Pro233= p.P233= ENST00000587340 233 ccA/ccT 0 Silent T 55 ZSCAN5A SNP 19 T A 61425812 61425812 Broad KCNS3 3790 broad.mit.edu GRCh37 2 18112771 18112771 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000403915.1:c.496C>G p.Gln166Glu p.Q166E ENST00000403915 NM_001282428.1 166 Cag/Gag 0 Missense_Mutation C 29 KCNS3 SNP 2 C G 17976252 17976252 Broad ERCC3 2071 broad.mit.edu GRCh37 2 128046408 128046408 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000285398.2:c.855C>T p.Ile285= p.I285= ENST00000285398 NM_000122.1 285 atC/atT 0 Silent G 41 ERCC3 SNP 2 G A 127762878 127762878 Broad LRP2 4036 broad.mit.edu GRCh37 2 170034471 170034471 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000263816.3:c.10235C>A p.Ala3412Asp p.A3412D ENST00000263816 NM_004525.2 3412 gCt/gAt 0 Missense_Mutation G 34 LRP2 SNP 2 G T 169742717 169742717 Broad TTN 7273 broad.mit.edu GRCh37 2 179393799 179393799 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.106679A>C p.Lys35560Thr p.K35560T ENST00000589042 NM_001267550.1 35560 aAg/aCg 0 Missense_Mutation T 56 TTN SNP 2 T G 179102045 179102045 Broad MAP2 4133 broad.mit.edu GRCh37 2 210517953 210517953 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000360351.4:c.59C>A p.Thr20Lys p.T20K ENST00000360351 NM_002374.3 20 aCa/aAa 0 Missense_Mutation C 17 MAP2 SNP 2 C A 210226198 210226198 Broad INPP5D 3635 broad.mit.edu GRCh37 2 234112923 234112923 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000359570.5:c.3091C>A p.Pro1031Thr p.P1031T ENST00000359570 1031 Ccg/Acg 0 Missense_Mutation C 26 INPP5D SNP 2 C A 233777662 233777662 Broad SIRPG 55423 broad.mit.edu GRCh37 20 1617038 1617038 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000303415.3:c.544T>C p.Trp182Arg p.W182R ENST00000303415 NM_018556.3 182 Tgg/Cgg 0 Missense_Mutation A 8 SIRPG SNP 20 A G 1565038 1565038 Broad PRAME 23532 broad.mit.edu GRCh37 22 22899242 22899243 + missense_variant Missense_Mutation DNP CT CT AA novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000543184.1:c.10_11delinsTT p.Arg4Leu p.R4L ENST00000543184 NM_206953.1 4 AGg/TTg 0 Missense_Mutation CT 24 PRAME DNP 22 CT AA 21229243 21229242 Broad ZPLD1 131368 broad.mit.edu GRCh37 3 102187907 102187907 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000306176.1:c.909G>A p.Gln303= p.Q303= ENST00000306176 NM_175056.1 303 caG/caA 0 Silent G 33 ZPLD1 SNP 3 G A 103670597 103670597 Broad MYLK 4638 broad.mit.edu GRCh37 3 123451760 123451760 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000360304.3:c.1499G>A p.Trp500Ter p.W500* ENST00000360304 NM_053025.3 500 tGg/tAg 0 Nonsense_Mutation C 21 MYLK SNP 3 C T 124934450 124934450 Broad KALRN 8997 broad.mit.edu GRCh37 3 124436217 124436217 + synonymous_variant Silent SNP A A T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000291478.5:c.3309A>T p.Ala1103= p.A1103= ENST00000291478 NM_007064.3 1103 gcA/gcT 0 Silent A 6 KALRN SNP 3 A T 125918907 125918907 Broad EIF2B5 8893 broad.mit.edu GRCh37 3 183861929 183861929 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000273783.3:c.1912C>T p.Arg638Cys p.R638C ENST00000273783 NM_003907.2 638 Cgc/Tgc 0 Missense_Mutation C 27 EIF2B5 SNP 3 C T 185344623 185344623 Broad EIF4G1 1981 broad.mit.edu GRCh37 3 184041297 184041297 + synonymous_variant Silent SNP A A G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000424196.1:c.2211A>G p.Ala737= p.A737= ENST00000424196 737 gcA/gcG 0 Silent A 7 EIF4G1 SNP 3 A G 185523991 185523991 Broad TP63 8626 broad.mit.edu GRCh37 3 189585724 189585724 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000264731.3:c.985A>C p.Thr329Pro p.T329P ENST00000264731 NM_003722.4 329 Acc/Ccc 0 Missense_Mutation A 2 TP63 SNP 3 A C 191068418 191068418 Broad PROM1 8842 broad.mit.edu GRCh37 4 15987617 15987617 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000510224.1:c.2174A>G p.Asn725Ser p.N725S ENST00000510224 725 aAc/aGc 0 Missense_Mutation T 60 PROM1 SNP 4 T C 15596715 15596715 Broad FAT1 2195 broad.mit.edu GRCh37 4 187525561 187525561 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000441802.2:c.10518G>T p.Lys3506Asn p.K3506N ENST00000441802 NM_005245.3 3506 aaG/aaT 0 Missense_Mutation C 24 FAT1 SNP 4 C A 187762555 187762555 Broad FYB 2533 broad.mit.edu GRCh37 5 39134990 39134990 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000540520.1:c.1672G>T p.Gly558Ter p.G558* ENST00000540520 NM_001243093.1 558 Gga/Tga 0 Nonsense_Mutation C 24 FYB SNP 5 C A 39170747 39170747 Broad MCTP1 79772 broad.mit.edu GRCh37 5 94244963 94244963 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000515393.1:c.1645A>C p.Ile549Leu p.I549L ENST00000515393 NM_024717.4 549 Att/Ctt 0 Missense_Mutation T 51 MCTP1 SNP 5 T G 94270719 94270719 Broad ADAMTS19 171019 broad.mit.edu GRCh37 5 129072908 129072908 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000274487.4:c.3621T>A p.Ser1207Arg p.S1207R ENST00000274487 NM_133638.3 1207 agT/agA 0 Missense_Mutation T 60 ADAMTS19 SNP 5 T A 129100807 129100807 Broad UNC5CL 222643 broad.mit.edu GRCh37 6 41002798 41002798 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000244565.3:c.16A>G p.Ser6Gly p.S6G ENST00000244565 NM_173561.2 6 Agt/Ggt 0 Missense_Mutation T 54 UNC5CL SNP 6 T C 41110776 41110776 Broad TREM2 54209 broad.mit.edu GRCh37 6 41126710 41126710 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000373113.3:c.577C>T p.Leu193Phe p.L193F ENST00000373113 NM_018965.3 193 Ctc/Ttc 0 Missense_Mutation G 35 TREM2 SNP 6 G A 41234688 41234688 Broad MDN1 23195 broad.mit.edu GRCh37 6 90418252 90418252 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000369393.3:c.7861G>C p.Asp2621His p.D2621H ENST00000369393 2621 Gac/Cac 0 Missense_Mutation C 29 MDN1 SNP 6 C G 90474973 90474973 Broad REV3L 5980 broad.mit.edu GRCh37 6 111737566 111737566 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000358835.3:c.249C>G p.Ile83Met p.I83M ENST00000358835 83 atC/atG 0 Missense_Mutation G 37 REV3L SNP 6 G C 111844259 111844259 Broad SMPDL3A 10924 broad.mit.edu GRCh37 6 123117972 123117972 + synonymous_variant Silent SNP T T C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000368440.4:c.330T>C p.Asp110= p.D110= ENST00000368440 NM_006714.3 110 gaT/gaC 0 Silent T 49 SMPDL3A SNP 6 T C 123159671 123159671 Broad FBXL18 80028 broad.mit.edu GRCh37 7 5540703 5540703 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000382368.3:c.1197G>A p.Glu399= p.E399= ENST00000382368 NM_024963.4 399 gaG/gaA 0 Silent C 24 FBXL18 SNP 7 C T 5507229 5507229 Broad ZMIZ2 83637 broad.mit.edu GRCh37 7 44801429 44801429 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000309315.4:c.1521C>A p.His507Gln p.H507Q ENST00000309315 NM_031449.3 507 caC/caA 0 Missense_Mutation C 17 ZMIZ2 SNP 7 C A 44767954 44767954 Broad PKD1L1 168507 broad.mit.edu GRCh37 7 47872764 47872764 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000289672.2:c.6261G>A p.Lys2087= p.K2087= ENST00000289672 NM_138295.3 2087 aaG/aaA 0 Silent C 28 PKD1L1 SNP 7 C T 47839289 47839289 Broad GRB10 2887 broad.mit.edu GRCh37 7 50742219 50742219 + synonymous_variant Silent SNP A A G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000398812.2:c.276T>C p.Ala92= p.A92= ENST00000398812 NM_005311.4 92 gcT/gcC 0 Silent A 3 GRB10 SNP 7 A G 50709713 50709713 Broad AZGP1 563 broad.mit.edu GRCh37 7 99565930 99565930 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000292401.4:c.461G>C p.Trp154Ser p.W154S ENST00000292401 NM_001185.3 154 tGg/tCg 0 Missense_Mutation C 21 AZGP1 SNP 7 C G 99403866 99403866 Broad TMEM209 84928 broad.mit.edu GRCh37 7 129832614 129832614 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000397622.2:c.623G>A p.Gly208Glu p.G208E ENST00000397622 NM_032842.3 208 gGa/gAa 0 Missense_Mutation C 30 TMEM209 SNP 7 C T 129619850 129619850 Broad PAG1 55824 broad.mit.edu GRCh37 8 81897173 81897173 + synonymous_variant Silent SNP T T C novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000220597.4:c.714A>G p.Gln238= p.Q238= ENST00000220597 NM_018440.3 238 caA/caG 0 Silent T 64 PAG1 SNP 8 T C 82059728 82059728 Broad ATAD2 29028 broad.mit.edu GRCh37 8 124349876 124349876 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000287394.5:c.3040G>C p.Asp1014His p.D1014H ENST00000287394 NM_014109.3 1014 Gac/Cac 0 Missense_Mutation C 29 ATAD2 SNP 8 C G 124419057 124419057 Broad AIFM1 9131 broad.mit.edu GRCh37 X 129281494 129281494 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown x x x ENST00000287295.3:c.579C>A p.Phe193Leu p.F193L ENST00000287295 NM_004208.3 193 ttC/ttA 0 Missense_Mutation G 45 AIFM1 SNP 23 G T 129109175 129109175 Broad TP53 7157 broad.mit.edu GRCh37 17 7578510 7578510 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.420del p.Cys141AlafsTer29 p.C141Afs*29 ENST00000269305 NM_001126112.2 140 acC/ac 0 Frame_Shift_Del G 35 TP53 DEL 17 - G 7519235 7519235 Broad OR4F21 441308 broad.mit.edu GRCh37 8 116893 116894 + frameshift_variant Frame_Shift_Del DEL GA GA - novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000320901.3:c.131_132del p.Phe44TyrfsTer8 p.F44Yfs*8 ENST00000320901 NM_001005504.1 44 tTC/t 0 Frame_Shift_Del GA 45 OR4F21 DEL 8 - GA 106894 106893 Broad PRUNE2 158471 broad.mit.edu GRCh37 9 79270331 79270341 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL GCTCTCACCAG GCTCTCACCAG - novel Unknown TCGA-59-2351-01 TCGA-59-2351-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000376718.3:c.8354_8356+8del p.X2785_splice ENST00000376718 NM_015225.2 2785 0 Splice_Site_Del GCTCTCACCAG 46 PRUNE2 DEL 9 - GCTCTCACCAG 78460161 78460151 Broad C1orf222 broad.mit.edu GRCh37 1 1897862 1897862 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000604159.1:c.104T>C p.Leu35Ser p.L35S ENST00000604159 NM_001080484.1 35 tTa/tCa 0 Missense_Mutation A 13 KIAA1751 SNP 1 A G 1887722 1887722 Broad PRDM16 63976 broad.mit.edu GRCh37 1 3328970 3328970 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000270722.5:c.2209C>G p.Leu737Val p.L737V ENST00000270722 737 Ctt/Gtt 0 Missense_Mutation C 24 PRDM16 SNP 1 C G 3318830 3318830 Broad GRIK3 2899 broad.mit.edu GRCh37 1 37356623 37356624 + missense_variant Missense_Mutation DNP CA CA AG novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000373091.3:c.189_190delinsCT p.Ala64Ser p.A64S ENST00000373091 NM_000831.3 63 tcTGcc/tcCTcc 0 Missense_Mutation CA 25 GRIK3 DNP 1 CA AG 37129211 37129210 Broad MACF1 23499 broad.mit.edu GRCh37 1 39916817 39916817 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000545844.1:c.14175G>A p.Gln4725= p.Q4725= ENST00000545844 4725 caG/caA 0 Silent G 34 MACF1 SNP 1 G A 39689404 39689404 Broad CCDC17 149483 broad.mit.edu GRCh37 1 46088468 46088468 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000528266.1:c.695C>A p.Ser232Tyr p.S232Y ENST00000528266 232 tCt/tAt 0 Missense_Mutation G 33 CCDC17 SNP 1 G T 45861055 45861055 Broad BSND 7809 broad.mit.edu GRCh37 1 55473915 55473915 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000371265.4:c.577C>T p.Pro193Ser p.P193S ENST00000371265 NM_057176.2 193 Ccc/Tcc 0 Missense_Mutation C 22 BSND SNP 1 C T 55246503 55246503 Broad CLCA1 1179 broad.mit.edu GRCh37 1 86959205 86959205 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000234701.3:c.1603A>T p.Ser535Cys p.S535C ENST00000234701 535 Agt/Tgt 0 Missense_Mutation A 7 CLCA1 SNP 1 A T 86731793 86731793 Broad CSDE1 7812 broad.mit.edu GRCh37 1 115263244 115263244 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000438362.2:c.2106G>T p.Leu702Phe p.L702F ENST00000438362 NM_001242891.1 702 ttG/ttT 0 Missense_Mutation C 17 CSDE1 SNP 1 C A 115064767 115064767 Broad CD48 962 broad.mit.edu GRCh37 1 160681482 160681482 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000368046.3:c.72C>T p.Thr24= p.T24= ENST00000368046 NM_001778.3 24 acC/acT 0 Silent G 47 CD48 SNP 1 G A 158948106 158948106 Broad SH3BP5L 80851 broad.mit.edu GRCh37 1 249106291 249106291 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000366472.5:c.990C>T p.Thr330= p.T330= ENST00000366472 NM_030645.1 330 acC/acT 0 Silent G 39 SH3BP5L SNP 1 G A 247072914 247072914 Broad WAPAL 23063 broad.mit.edu GRCh37 10 88259482 88259482 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000298767.5:c.1518C>A p.Asn506Lys p.N506K ENST00000298767 NM_015045.2 506 aaC/aaA 0 Missense_Mutation G 48 WAPAL SNP 10 G T 88249462 88249462 Broad CCDC73 493860 broad.mit.edu GRCh37 11 32635947 32635947 + synonymous_variant Silent SNP A A C novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000335185.5:c.1917T>G p.Pro639= p.P639= ENST00000335185 NM_001008391.3 639 ccT/ccG 0 Silent A 7 CCDC73 SNP 11 A C 32592523 32592523 Broad SLCO2B1 11309 broad.mit.edu GRCh37 11 74915485 74915485 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000289575.5:c.1990A>T p.Ile664Phe p.I664F ENST00000289575 NM_007256.4 664 Atc/Ttc 0 Missense_Mutation A 12 SLCO2B1 SNP 11 A T 74593133 74593133 Broad NCAM1 4684 broad.mit.edu GRCh37 11 113104016 113104016 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000524665.1:c.1817C>T p.Ser606Phe p.S606F ENST00000524665 NM_000615.6 606 tCc/tTc 0 Missense_Mutation C 30 NCAM1 SNP 11 C T 112609226 112609226 Broad ZBTB16 7704 broad.mit.edu GRCh37 11 113934883 113934883 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000335953.4:c.861C>G p.Ser287Arg p.S287R ENST00000335953 NM_006006.4 287 agC/agG 0 Missense_Mutation C 27 ZBTB16 SNP 11 C G 113440093 113440093 Broad LRP6 4040 broad.mit.edu GRCh37 12 12278278 12278278 + synonymous_variant Silent SNP T T A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000261349.4:c.4401A>T p.Gly1467= p.G1467= ENST00000261349 NM_002336.2 1467 ggA/ggT 0 Silent T 54 LRP6 SNP 12 T A 12169545 12169545 Broad ENDOU 8909 broad.mit.edu GRCh37 12 48104664 48104664 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000422538.3:c.1154G>A p.Arg385Gln p.R385Q ENST00000422538 NM_001172439.1 385 cGg/cAg 0 Missense_Mutation C 23 ENDOU SNP 12 C T 46390931 46390931 Broad DPY19L2 283417 broad.mit.edu GRCh37 12 64062050 64062050 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000324472.4:c.124C>G p.Leu42Val p.L42V ENST00000324472 NM_173812.4 42 Cta/Gta 0 Missense_Mutation G 35 DPY19L2 SNP 12 G C 62348317 62348317 Broad MYBPC1 4604 broad.mit.edu GRCh37 12 102074234 102074234 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000452455.2:c.3339T>G p.Asp1113Glu p.D1113E ENST00000452455 NM_001254718.1 1113 gaT/gaG 0 Missense_Mutation T 51 MYBPC1 SNP 12 T G 100598365 100598365 Broad AHNAK2 113146 broad.mit.edu GRCh37 14 105409924 105409924 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000333244.5:c.11864C>T p.Ser3955Phe p.S3955F ENST00000333244 NM_138420.2 3955 tCc/tTc 0 Missense_Mutation G 41 AHNAK2 SNP 14 G A 104480969 104480969 Broad MAP1A 4130 broad.mit.edu GRCh37 15 43816827 43816827 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000300231.5:c.3156G>T p.Gly1052= p.G1052= ENST00000300231 1052 ggG/ggT 0 Silent G 42 MAP1A SNP 15 G T 41604119 41604119 Broad SIN3A 25942 broad.mit.edu GRCh37 15 75693135 75693135 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000394947.3:c.1673A>G p.Tyr558Cys p.Y558C ENST00000394947 NM_001145358.1 558 tAt/tGt 0 Missense_Mutation T 49 SIN3A SNP 15 T C 73480188 73480188 Broad ZNF423 23090 broad.mit.edu GRCh37 16 49672444 49672444 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000561648.1:c.619G>T p.Asp207Tyr p.D207Y ENST00000561648 NM_015069.3 207 Gac/Tac 0 Missense_Mutation C 31 ZNF423 SNP 16 C A 48229945 48229945 Broad MYBBP1A 10514 broad.mit.edu GRCh37 17 4455904 4455904 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000381556.2:c.579G>T p.Leu193Phe p.L193F ENST00000381556 NM_014520.3 193 ttG/ttT 0 Missense_Mutation C 25 MYBBP1A SNP 17 C A 4402653 4402653 Broad TP53 7157 broad.mit.edu GRCh37 17 7578542 7578542 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.388C>G p.Leu130Val p.L130V ENST00000269305 NM_001126112.2 130 Ctc/Gtc 0 Missense_Mutation G 35 TP53 SNP 17 G C 7519267 7519267 Broad NF1 4763 broad.mit.edu GRCh37 17 29556136 29556136 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000358273.4:c.2503C>T p.Gln835Ter p.Q835* ENST00000358273 NM_001042492.2 835 Cag/Tag 0 Nonsense_Mutation C 17 NF1 SNP 17 C T 26580262 26580262 Broad AATF 26574 broad.mit.edu GRCh37 17 35413929 35413929 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000225402.5:c.1648C>G p.Gln550Glu p.Q550E ENST00000225402 NM_012138.3 550 Cag/Gag 0 Missense_Mutation C 21 AATF SNP 17 C G 32488042 32488042 Broad CNTNAP1 8506 broad.mit.edu GRCh37 17 40839888 40839888 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000264638.4:c.1195C>G p.Leu399Val p.L399V ENST00000264638 NM_003632.2 399 Ctt/Gtt 0 Missense_Mutation C 24 CNTNAP1 SNP 17 C G 38093414 38093414 Broad CDH7 1005 broad.mit.edu GRCh37 18 63526944 63526944 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000397968.2:c.1495G>T p.Val499Phe p.V499F ENST00000397968 NM_004361.2 499 Gtt/Ttt 0 Missense_Mutation G 44 CDH7 SNP 18 G T 61677924 61677924 Broad SAFB 6294 broad.mit.edu GRCh37 19 5668291 5668291 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000588852.1:c.2743C>G p.Arg915Gly p.R915G ENST00000588852 915 Cgc/Ggc 0 Missense_Mutation C 31 SAFB SNP 19 C G 5619291 5619291 Broad OR7E24 26648 broad.mit.edu GRCh37 19 9361964 9361964 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000456448.1:c.245C>T p.Ser82Phe p.S82F ENST00000456448 NM_001079935.1 82 tCc/tTc 0 Missense_Mutation C 30 OR7E24 SNP 19 C T 9222964 9222964 Broad PXDN 7837 broad.mit.edu GRCh37 2 1691466 1691466 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000252804.4:c.354C>T p.Tyr118= p.Y118= ENST00000252804 NM_012293.1 118 taC/taT 0 Silent G 48 PXDN SNP 2 G A 1670473 1670473 Broad ACVR1C 130399 broad.mit.edu GRCh37 2 158399365 158399366 + missense_variant Missense_Mutation DNP GC GC AA novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000243349.8:c.952_953delinsTT p.Ala318Phe p.A318F ENST00000243349 NM_001111032.1 318 GCt/TTt 0 Missense_Mutation GC 34 ACVR1C DNP 2 GC AA 158107612 158107611 Broad TTN 7273 broad.mit.edu GRCh37 2 179433209 179433209 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000589042.1:c.77650G>A p.Glu25884Lys p.E25884K ENST00000589042 NM_001267550.1 25884 Gaa/Aaa 0 Missense_Mutation C 31 TTN SNP 2 C T 179141455 179141455 Broad CERKL 375298 broad.mit.edu GRCh37 2 182403829 182403829 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000339098.5:c.1606G>A p.Val536Ile p.V536I ENST00000339098 536 Gtc/Atc 0 Missense_Mutation C 18 CERKL SNP 2 C T 182112074 182112074 Broad CLK1 1195 broad.mit.edu GRCh37 2 201722576 201722576 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000434813.2:c.823C>A p.His275Asn p.H275N ENST00000434813 NM_001162407.1 275 Cat/Aat 0 Missense_Mutation G 46 CLK1 SNP 2 G T 201430821 201430821 Broad INO80D 54891 broad.mit.edu GRCh37 2 206869554 206869554 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000403263.1:c.2622C>A p.Thr874= p.T874= ENST00000403263 NM_017759.4 874 acC/acA 0 Silent G 43 INO80D SNP 2 G T 206577799 206577799 Broad VIL1 7429 broad.mit.edu GRCh37 2 219294592 219294592 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000248444.5:c.870G>A p.Gln290= p.Q290= ENST00000248444 NM_007127.2 290 caG/caA 0 Silent G 35 VIL1 SNP 2 G A 219002836 219002836 Broad BPIFB2 80341 broad.mit.edu GRCh37 20 31608383 31608383 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000170150.3:c.1184G>A p.Gly395Asp p.G395D ENST00000170150 NM_025227.2 395 gGc/gAc 0 Missense_Mutation G 42 BPIL1 SNP 20 G A 31072044 31072044 Broad TTPAL 79183 broad.mit.edu GRCh37 20 43108870 43108870 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000372904.3:c.231C>T p.Asp77= p.D77= ENST00000372904 NM_024331.4 77 gaC/gaT 0 Silent C 19 TTPAL SNP 20 C T 42542284 42542284 Broad FBLN2 2199 broad.mit.edu GRCh37 3 13678069 13678069 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000404922.3:c.3338+1G>A p.X1113_splice ENST00000404922 NM_001004019.1 0 Splice_Site_SNP G 40 FBLN2 SNP 3 G A 13653070 13653070 Broad C3orf20 84077 broad.mit.edu GRCh37 3 14798891 14798891 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000253697.3:c.1954G>A p.Glu652Lys p.E652K ENST00000253697 NM_032137.4 652 Gag/Aag 0 Missense_Mutation G 37 C3orf20 SNP 3 G A 14773895 14773895 Broad ZKSCAN7 55888 broad.mit.edu GRCh37 3 44611962 44611962 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000273320.3:c.1360C>G p.Leu454Val p.L454V ENST00000273320 NM_018651.2 454 Ctc/Gtc 0 Missense_Mutation C 32 ZNF167 SNP 3 C G 44586966 44586966 Broad ROBO2 6092 broad.mit.edu GRCh37 3 77600071 77600071 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000487694.3:c.1210T>A p.Tyr404Asn p.Y404N ENST00000487694 NM_001128929.2 404 Tac/Aac 0 Missense_Mutation T 61 ROBO2 SNP 3 T A 77682761 77682761 Broad COL6A6 131873 broad.mit.edu GRCh37 3 130293357 130293357 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000358511.6:c.3535G>C p.Ala1179Pro p.A1179P ENST00000358511 NM_001102608.1 1179 Gcg/Ccg 0 Missense_Mutation G 34 COL6A6 SNP 3 G C 131776047 131776047 Broad TACC3 10460 broad.mit.edu GRCh37 4 1730364 1730364 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000313288.4:c.1235A>G p.Asp412Gly p.D412G ENST00000313288 NM_006342.2 412 gAc/gGc 0 Missense_Mutation A 10 TACC3 SNP 4 A G 1700162 1700162 Broad MYLIP 29116 broad.mit.edu GRCh37 6 16143276 16143276 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000356840.3:c.490G>A p.Glu164Lys p.E164K ENST00000356840 NM_013262.3 164 Gag/Aag 0 Missense_Mutation G 41 MYLIP SNP 6 G A 16251255 16251255 Broad TINAG 27283 broad.mit.edu GRCh37 6 54173463 54173463 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000259782.4:c.115C>G p.His39Asp p.H39D ENST00000259782 NM_014464.3 39 Cac/Gac 0 Missense_Mutation C 29 TINAG SNP 6 C G 54281422 54281422 Broad ROS1 6098 broad.mit.edu GRCh37 6 117708056 117708056 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000368508.3:c.2121G>T p.Val707= p.V707= ENST00000368508 NM_002944.2 707 gtG/gtT 0 Silent C 17 ROS1 SNP 6 C A 117814749 117814749 Broad RAET1L 154064 broad.mit.edu GRCh37 6 150343305 150343305 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000367341.1:c.160G>A p.Gly54Ser p.G54S ENST00000367341 54 Ggc/Agc 0 Missense_Mutation C 24 RAET1L SNP 6 C T 150384998 150384998 Broad AUTS2 26053 broad.mit.edu GRCh37 7 70255188 70255188 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000342771.4:c.2986G>A p.Ala996Thr p.A996T ENST00000342771 NM_015570.2 996 Gcc/Acc 0 Missense_Mutation G 42 AUTS2 SNP 7 G A 69893124 69893124 Broad TEX15 56154 broad.mit.edu GRCh37 8 30701009 30701009 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000256246.2:c.5525C>G p.Ser1842Cys p.S1842C ENST00000256246 NM_031271.3 1842 tCt/tGt 0 Missense_Mutation G 33 TEX15 SNP 8 G C 30820551 30820551 Broad DCSTAMP 81501 broad.mit.edu GRCh37 8 105361543 105361543 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000297581.2:c.763G>C p.Asp255His p.D255H ENST00000297581 NM_030788.3 255 Gat/Cat 0 Missense_Mutation G 45 TM7SF4 SNP 8 G C 105430719 105430719 Broad ANGPT1 284 broad.mit.edu GRCh37 8 108348443 108348443 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000517746.1:c.510C>A p.Thr170= p.T170= ENST00000517746 NM_001199859.1 170 acC/acA 0 Silent G 35 ANGPT1 SNP 8 G T 108417619 108417619 Broad FAM135B 51059 broad.mit.edu GRCh37 8 139145004 139145004 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000395297.1:c.4053C>A p.Gly1351= p.G1351= ENST00000395297 NM_015912.3 1351 ggC/ggA 0 Silent G 42 FAM135B SNP 8 G T 139214186 139214186 Broad IFNW1 3467 broad.mit.edu GRCh37 9 21141017 21141017 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000380229.2:c.553C>T p.Leu185= p.L185= ENST00000380229 NM_002177.1 185 Ctg/Ttg 0 Silent G 36 IFNW1 SNP 9 G A 21131017 21131017 Broad FAM47C 442444 broad.mit.edu GRCh37 X 37028667 37028667 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000358047.3:c.2184G>A p.Pro728= p.P728= ENST00000358047 NM_001013736.2 728 ccG/ccA 0 Silent G 39 FAM47C SNP 23 G A 36938588 36938588 Broad CAPN6 827 broad.mit.edu GRCh37 X 110507056 110507056 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown x x x ENST00000324068.1:c.109G>C p.Asp37His p.D37H ENST00000324068 NM_014289.3 37 Gat/Cat 0 Missense_Mutation C 29 CAPN6 SNP 23 C G 110393712 110393712 Broad DMKN 93099 broad.mit.edu GRCh37 19 36002362 36002412 + inframe_deletion In_Frame_Del DEL CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG - novel Unknown TCGA-61-2094-01 TCGA-61-2094-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000339686.3:c.819_869del p.Ser274_Ser290del p.S274_S290del ENST00000339686 NM_033317.4 273 agCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGt/agt 0 In_Frame_Del CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG 20 DMKN DEL 19 - CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG 40694252 40694202 Broad PTPRF 5792 broad.mit.edu GRCh37 1 44085815 44085815 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000359947.4:c.5161G>C p.Glu1721Gln p.E1721Q ENST00000359947 NM_002840.3 1721 Gag/Cag 0 Missense_Mutation G 37 PTPRF SNP 1 G C 43858402 43858402 Broad ABL2 27 broad.mit.edu GRCh37 1 179100549 179100549 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000502732.1:c.288C>T p.Ser96= p.S96= ENST00000502732 NM_001168237.1 96 agC/agT 0 Silent G 34 ABL2 SNP 1 G A 177367172 177367172 Broad CEP350 9857 broad.mit.edu GRCh37 1 180080188 180080188 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000367607.3:c.9246G>A p.Leu3082= p.L3082= ENST00000367607 NM_014810.4 3082 ttG/ttA 0 Silent G 48 CEP350 SNP 1 G A 178346811 178346811 Broad IGFN1 91156 broad.mit.edu GRCh37 1 201182657 201182657 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000335211.4:c.8636G>A p.Arg2879Lys p.R2879K ENST00000335211 NM_001164586.1 2879 aGg/aAg 0 Missense_Mutation G 35 IGFN1 SNP 1 G A 199449280 199449280 Broad ANO9 338440 broad.mit.edu GRCh37 11 433411 433411 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000332826.6:c.253A>G p.Ser85Gly p.S85G ENST00000332826 NM_001012302.2 85 Agt/Ggt 0 Missense_Mutation T 55 ANO9 SNP 11 T C 423411 423411 Broad MRVI1 10335 broad.mit.edu GRCh37 11 10631309 10631309 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000423302.2:c.1537C>T p.Arg513Cys p.R513C ENST00000423302 NM_130385.3 513 Cgc/Tgc 0 Missense_Mutation G 38 MRVI1 SNP 11 G A 10587885 10587885 Broad CST6 1474 broad.mit.edu GRCh37 11 65780321 65780321 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000312134.2:c.265C>T p.Leu89= p.L89= ENST00000312134 NM_001323.3 89 Ctg/Ttg 0 Silent C 24 CST6 SNP 11 C T 65536897 65536897 Broad CASP4 837 broad.mit.edu GRCh37 11 104820470 104820470 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000444739.2:c.581G>C p.Arg194Thr p.R194T ENST00000444739 NM_001225.3 194 aGa/aCa 0 Missense_Mutation C 32 CASP4 SNP 11 C G 104325680 104325680 Broad GRIA4 2893 broad.mit.edu GRCh37 11 105483009 105483009 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000282499.5:c.95T>C p.Leu32Pro p.L32P ENST00000282499 NM_000829.3 32 cTc/cCc 0 Missense_Mutation T 54 GRIA4 SNP 11 T C 104988219 104988219 Broad CACNA1C 775 broad.mit.edu GRCh37 12 2797734 2797734 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000347598.4:c.6050T>C p.Val2017Ala p.V2017A ENST00000347598 NM_199460.2 2017 gTc/gCc 0 Missense_Mutation T 58 CACNA1C SNP 12 T C 2667995 2667995 Broad C12orf40 283461 broad.mit.edu GRCh37 12 40076581 40076581 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000324616.5:c.855C>A p.Asn285Lys p.N285K ENST00000324616 NM_001031748.2 285 aaC/aaA 0 Missense_Mutation C 18 C12orf40 SNP 12 C A 38362848 38362848 Broad NABP2 79035 broad.mit.edu GRCh37 12 56622860 56622860 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000380198.2:c.499C>A p.Pro167Thr p.P167T ENST00000380198 167 Ccc/Acc 0 Missense_Mutation C 30 OBFC2B SNP 12 C A 54909127 54909127 Broad PAN2 9924 broad.mit.edu GRCh37 12 56717139 56717139 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000425394.2:c.2313C>A p.His771Gln p.H771Q ENST00000425394 NM_001127460.2 771 caC/caA 0 Missense_Mutation G 40 PAN2 SNP 12 G T 55003406 55003406 Broad RIMBP2 23504 broad.mit.edu GRCh37 12 130926553 130926553 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000261655.4:c.1293C>A p.Ile431= p.I431= ENST00000261655 NM_015347.4 431 atC/atA 0 Silent G 37 RIMBP2 SNP 12 G T 129492506 129492506 Broad XPO4 64328 broad.mit.edu GRCh37 13 21396414 21396414 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000255305.6:c.855C>G p.Ile285Met p.I285M ENST00000255305 285 atC/atG 0 Missense_Mutation G 45 XPO4 SNP 13 G C 20294414 20294414 Broad RB1 5925 broad.mit.edu GRCh37 13 48941648 48941648 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000267163.4:c.958C>T p.Arg320Ter p.R320* ENST00000267163 NM_000321.2 320 Cga/Tga 0 Nonsense_Mutation C 19 RB1 SNP 13 C T 47839649 47839649 Broad TTC5 91875 broad.mit.edu GRCh37 14 20757901 20757901 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000258821.3:c.1208A>T p.Tyr403Phe p.Y403F ENST00000258821 NM_138376.2 403 tAt/tTt 0 Missense_Mutation T 49 TTC5 SNP 14 T A 19827741 19827741 Broad SALL2 6297 broad.mit.edu GRCh37 14 21991569 21991569 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000327430.3:c.2293G>T p.Glu765Ter p.E765* ENST00000327430 NM_005407.1 765 Gag/Tag 0 Nonsense_Mutation C 30 SALL2 SNP 14 C A 21061409 21061409 Broad PMM2 5373 broad.mit.edu GRCh37 16 8895757 8895757 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000268261.4:c.168G>A p.Leu56= p.L56= ENST00000268261 NM_000303.2 56 ctG/ctA 0 Silent G 47 PMM2 SNP 16 G A 8803258 8803258 Broad PARN 5073 broad.mit.edu GRCh37 16 14530615 14530615 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000437198.2:c.1879A>T p.Asn627Tyr p.N627Y ENST00000437198 NM_002582.3 627 Aac/Tac 0 Missense_Mutation T 62 PARN SNP 16 T A 14438116 14438116 Broad GTF3C1 2975 broad.mit.edu GRCh37 16 27501066 27501066 + splice_acceptor_variant Splice_Site SNP T T A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000356183.4:c.3152-2A>T p.X1051_splice ENST00000356183 NM_001520.3 0 Splice_Site_SNP T 55 GTF3C1 SNP 16 T A 27408567 27408567 Broad LPO 4025 broad.mit.edu GRCh37 17 56329650 56329650 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000262290.4:c.888G>T p.Gln296His p.Q296H ENST00000262290 NM_006151.2 296 caG/caT 0 Missense_Mutation G 33 LPO SNP 17 G T 53684649 53684649 Broad DDX42 11325 broad.mit.edu GRCh37 17 61886264 61886264 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000578681.1:c.1108G>A p.Ala370Thr p.A370T ENST00000578681 NM_007372.3 370 Gcc/Acc 0 Missense_Mutation G 42 DDX42 SNP 17 G A 59239996 59239996 Broad SRP68 6730 broad.mit.edu GRCh37 17 74046604 74046604 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000307877.2:c.982G>A p.Glu328Lys p.E328K ENST00000307877 NM_014230.3 328 Gaa/Aaa 0 Missense_Mutation C 29 SRP68 SNP 17 C T 71558199 71558199 Broad RNF157 114804 broad.mit.edu GRCh37 17 74152374 74152374 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000269391.6:c.1442A>C p.Asn481Thr p.N481T ENST00000269391 NM_052916.2 481 aAt/aCt 0 Missense_Mutation T 52 RNF157 SNP 17 T G 71663969 71663969 Broad ABCA7 10347 broad.mit.edu GRCh37 19 1042357 1042357 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000263094.6:c.459G>A p.Met153Ile p.M153I ENST00000263094 NM_019112.3 153 atG/atA 0 Missense_Mutation G 46 ABCA7 SNP 19 G A 993357 993357 Broad TUBB4A 10382 broad.mit.edu GRCh37 19 6495339 6495339 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000264071.2:c.1171C>T p.Arg391Cys p.R391C ENST00000264071 391 Cgc/Tgc 0 Missense_Mutation G 38 TUBB4 SNP 19 G A 6446339 6446339 Broad CENPO 79172 broad.mit.edu GRCh37 2 25022649 25022649 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000380834.2:c.152A>T p.Lys51Met p.K51M ENST00000380834 51 aAg/aTg 0 Missense_Mutation A 3 CENPO SNP 2 A T 24876153 24876153 Broad MYLK2 85366 broad.mit.edu GRCh37 20 30414648 30414648 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000375994.2:c.1131T>A p.His377Gln p.H377Q ENST00000375994 377 caT/caA 0 Missense_Mutation T 50 MYLK2 SNP 20 T A 29878309 29878309 Broad BPIFA3 128861 broad.mit.edu GRCh37 20 31805447 31805447 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000375454.3:c.105C>A p.Asp35Glu p.D35E ENST00000375454 NM_178466.3 35 gaC/gaA 0 Missense_Mutation C 17 C20orf71 SNP 20 C A 31269108 31269108 Broad KCNJ6 3763 broad.mit.edu GRCh37 21 39086984 39086984 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000609713.1:c.476T>G p.Val159Gly p.V159G ENST00000609713 NM_002240.3 159 gTc/gGc 0 Missense_Mutation A 10 KCNJ6 SNP 21 A C 38008854 38008854 Broad FAM208A 23272 broad.mit.edu GRCh37 3 56667184 56667184 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000493960.2:c.3635T>A p.Leu1212Ter p.L1212* ENST00000493960 NM_001112736.1 1212 tTa/tAa 0 Nonsense_Mutation A 13 C3orf63 SNP 3 A T 56642224 56642224 Broad OSBPL11 114885 broad.mit.edu GRCh37 3 125271465 125271465 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000296220.5:c.1214T>G p.Phe405Cys p.F405C ENST00000296220 NM_022776.4 405 tTt/tGt 0 Missense_Mutation A 1 OSBPL11 SNP 3 A C 126754155 126754155 Broad PPP2R3A 5523 broad.mit.edu GRCh37 3 135722027 135722027 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000264977.3:c.1687C>A p.Pro563Thr p.P563T ENST00000264977 NM_001190447.1 563 Ccc/Acc 0 Missense_Mutation C 18 PPP2R3A SNP 3 C A 137204717 137204717 Broad CC2D2A 57545 broad.mit.edu GRCh37 4 15569104 15569104 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000424120.1:c.3287A>C p.Gln1096Pro p.Q1096P ENST00000424120 1096 cAg/cCg 0 Missense_Mutation A 7 CC2D2A SNP 4 A C 15178202 15178202 Broad NEK1 4750 broad.mit.edu GRCh37 4 170398372 170398372 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000507142.1:c.2337A>T p.Lys779Asn p.K779N ENST00000507142 NM_001199397.1 779 aaA/aaT 0 Missense_Mutation T 52 NEK1 SNP 4 T A 170634947 170634947 Broad UGT3A1 133688 broad.mit.edu GRCh37 5 35965531 35965531 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000274278.3:c.800A>G p.Tyr267Cys p.Y267C ENST00000274278 NM_152404.3 267 tAt/tGt 0 Missense_Mutation T 49 UGT3A1 SNP 5 T C 36001288 36001288 Broad MROH2B 133558 broad.mit.edu GRCh37 5 41038893 41038893 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000399564.4:c.2159G>C p.Arg720Thr p.R720T ENST00000399564 NM_173489.4 720 aGa/aCa 0 Missense_Mutation C 32 HEATR7B2 SNP 5 C G 41074650 41074650 Broad KCNN2 3781 broad.mit.edu GRCh37 5 113808788 113808788 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000512097.3:c.1181C>T p.Ala394Val p.A394V ENST00000512097 394 gCa/gTa 0 Missense_Mutation C 25 KCNN2 SNP 5 C T 113836687 113836687 Broad PCDHGA3 56112 broad.mit.edu GRCh37 5 140725696 140725696 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000253812.6:c.2096C>T p.Ala699Val p.A699V ENST00000253812 NM_018916.3 699 gCg/gTg 0 Missense_Mutation C 27 PCDHGA3 SNP 5 C T 140705880 140705880 Broad HLA-E 3133 broad.mit.edu GRCh37 6 30460343 30460343 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000376630.4:c.1062G>A p.Glu354= p.E354= ENST00000376630 NM_005516.5 354 gaG/gaA 0 Silent G 36 HLA-E SNP 6 G A 30568322 30568322 Broad TUBE1 51175 broad.mit.edu GRCh37 6 112397247 112397247 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000368662.5:c.705G>A p.Lys235= p.K235= ENST00000368662 NM_016262.4 235 aaG/aaA 0 Silent C 28 TUBE1 SNP 6 C T 112503940 112503940 Broad CHD7 55636 broad.mit.edu GRCh37 8 61736434 61736434 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000423902.2:c.3237C>T p.Ala1079= p.A1079= ENST00000423902 NM_017780.3 1079 gcC/gcT 0 Silent C 21 CHD7 SNP 8 C T 61898988 61898988 Broad STMN2 11075 broad.mit.edu GRCh37 8 80553642 80553642 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000518111.1:c.145G>A p.Ala49Thr p.A49T ENST00000518111 49 Gcc/Acc 0 Missense_Mutation G 46 STMN2 SNP 8 G A 80716197 80716197 Broad TSPYL5 85453 broad.mit.edu GRCh37 8 98289380 98289380 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000322128.3:c.693G>C p.Gly231= p.G231= ENST00000322128 NM_033512.2 231 ggG/ggC 0 Silent C 26 TSPYL5 SNP 8 C G 98358556 98358556 Broad RIMS2 9699 broad.mit.edu GRCh37 8 104928759 104928759 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000406091.3:c.2030C>G p.Pro677Arg p.P677R ENST00000406091 NM_001100117.2 677 cCt/cGt 0 Missense_Mutation C 24 RIMS2 SNP 8 C G 104997935 104997935 Broad RNF20 56254 broad.mit.edu GRCh37 9 104323145 104323145 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000389120.3:c.2445C>A p.Asn815Lys p.N815K ENST00000389120 NM_019592.6 815 aaC/aaA 0 Missense_Mutation C 17 RNF20 SNP 9 C A 103362966 103362966 Broad DFNB31 25861 broad.mit.edu GRCh37 9 117165105 117165105 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000362057.3:c.2653G>T p.Ala885Ser p.A885S ENST00000362057 NM_001173425.1 885 Gcc/Tcc 0 Missense_Mutation C 27 DFNB31 SNP 9 C A 116204926 116204926 Broad FAM47A 158724 broad.mit.edu GRCh37 X 34150181 34150181 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000346193.3:c.215G>A p.Arg72His p.R72H ENST00000346193 NM_203408.3 72 cGc/cAc 0 Missense_Mutation C 27 FAM47A SNP 23 C T 34060102 34060102 Broad H2BFWT 158983 broad.mit.edu GRCh37 X 103268205 103268205 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000217926.5:c.28C>A p.Pro10Thr p.P10T ENST00000217926 NM_001002916.4 10 Ccc/Acc 0 Missense_Mutation G 41 H2BFWT SNP 23 G T 103154861 103154861 Broad ARHGAP36 158763 broad.mit.edu GRCh37 X 130218611 130218611 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-2079-01 TCGA-23-2079-10 Unknown Unknown Unknown x x x ENST00000276211.5:c.760G>A p.Val254Met p.V254M ENST00000276211 NM_144967.3 254 Gtg/Atg 0 Missense_Mutation G 36 ARHGAP36 SNP 23 G A 130046292 130046292 Broad ARHGEF10 9639 genome.wustl.edu GRCh37 8 1812549 1812549 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000349830.3:c.492A>C p.Glu164Asp p.E164D ENST00000349830 NM_014629.2 164 gaA/gaC 0 Missense_Mutation A 3 ARHGEF10 SNP 8 A C 1799956 1799956 WashU TSR1 55720 genome.wustl.edu GRCh37 17 2236408 2236408 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000301364.5:c.1152G>C p.Lys384Asn p.K384N ENST00000301364 NM_018128.4 384 aaG/aaC 0 Missense_Mutation C 24 TSR1 SNP 17 C G 2183158 2183158 WashU FBXO18 84893 genome.wustl.edu GRCh37 10 5958363 5958363 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379999.5:c.1885A>T p.Ile629Phe p.I629F ENST00000379999 NM_032807.4 629 Att/Ttt 0 Missense_Mutation A 16 FBXO18 SNP 10 A T 5998369 5998369 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578555 7578555 + splice_acceptor_variant Splice_Site SNP C C A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.376-1G>T p.X126_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 20 TP53 SNP 17 C A 7519280 7519280 WashU ARHGEF15 22899 genome.wustl.edu GRCh37 17 8222704 8222704 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361926.3:c.2261A>G p.Glu754Gly p.E754G ENST00000361926 NM_173728.3 754 gAg/gGg 0 Missense_Mutation A 11 ARHGEF15 SNP 17 A G 8163429 8163429 WashU PTH 5741 genome.wustl.edu GRCh37 11 13513970 13513970 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282091.1:c.330T>C p.Thr110= p.T110= ENST00000282091 NM_000315.2 110 acT/acC 0 Silent A 15 PTH SNP 11 A G 13470546 13470546 WashU TMEM27 57393 genome.wustl.edu GRCh37 X 15646102 15646102 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380342.3:c.661C>T p.Pro221Ser p.P221S ENST00000380342 NM_020665.5 221 Cct/Tct 0 Missense_Mutation G 43 TMEM27 SNP 23 G A 15556023 15556023 WashU TBC1D5 9779 genome.wustl.edu GRCh37 3 17279813 17279813 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000446818.2:c.1430G>C p.Ser477Thr p.S477T ENST00000446818 NM_001134381.1 477 aGt/aCt 0 Missense_Mutation C 20 TBC1D5 SNP 3 C G 17254817 17254817 WashU SYT17 51760 genome.wustl.edu GRCh37 16 19195086 19195086 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355377.2:c.568T>G p.Phe190Val p.F190V ENST00000355377 NM_016524.2 190 Ttc/Gtc 0 Missense_Mutation T 56 SYT17 SNP 16 T G 19102587 19102587 WashU HRH4 59340 genome.wustl.edu GRCh37 18 22057426 22057426 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256906.4:c.1073A>T p.Tyr358Phe p.Y358F ENST00000256906 NM_021624.3 358 tAt/tTt 0 Missense_Mutation A 16 HRH4 SNP 18 A T 20311424 20311424 WashU ZNF429 353088 genome.wustl.edu GRCh37 19 21713460 21713460 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358491.4:c.200G>C p.Arg67Pro p.R67P ENST00000358491 NM_001001415.2 67 cGa/cCa 0 Missense_Mutation G 37 ZNF429 SNP 19 G C 21505300 21505300 WashU RPS20P32 genome.wustl.edu GRCh37 13 27591838 27591838 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000456044.1:n.209T>C *70* ENST00000456044 0 Silent A 6 LOC100129306 SNP 13 A G 26489838 26489838 WashU IFT172 26160 genome.wustl.edu GRCh37 2 27708306 27708306 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260570.3:c.104C>T p.Thr35Ile p.T35I ENST00000260570 NM_015662.1 35 aCa/aTa 0 Missense_Mutation G 48 IFT172 SNP 2 G A 27561810 27561810 WashU ATP2A1 487 genome.wustl.edu GRCh37 16 28905521 28905521 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357084.3:c.1141G>A p.Glu381Lys p.E381K ENST00000357084 NM_173201.3 381 Gag/Aag 0 Missense_Mutation G 45 ATP2A1 SNP 16 G A 28813022 28813022 WashU WAC 51322 genome.wustl.edu GRCh37 10 28900852 28900852 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354911.4:c.1437+1G>T p.X479_splice ENST00000354911 NM_016628.4 0 Splice_Site_SNP G 44 WAC SNP 10 G T 28940858 28940858 WashU MTMR12 54545 genome.wustl.edu GRCh37 5 32242202 32242202 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382142.3:c.1132G>C p.Glu378Gln p.E378Q ENST00000382142 NM_001040446.1 378 Gaa/Caa 0 Missense_Mutation C 32 MTMR12 SNP 5 C G 32277959 32277959 WashU APOBEC3B 9582 genome.wustl.edu GRCh37 22 39387497 39387497 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333467.3:c.884C>T p.Ala295Val p.A295V ENST00000333467 NM_004900.4 295 gCg/gTg 0 Missense_Mutation C 27 APOBEC3B SNP 22 C T 37717443 37717443 WashU ADAMTS20 80070 genome.wustl.edu GRCh37 12 43847845 43847845 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389420.3:c.1625A>C p.His542Pro p.H542P ENST00000389420 NM_025003.3 542 cAt/cCt 0 Missense_Mutation T 51 ADAMTS20 SNP 12 T G 42134112 42134112 WashU NCOA3 8202 genome.wustl.edu GRCh37 20 46277795 46277795 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371998.3:c.3593C>G p.Pro1198Arg p.P1198R ENST00000371998 1198 cCt/cGt 0 Missense_Mutation C 24 NCOA3 SNP 20 C G 45711202 45711202 WashU GDF2 2658 genome.wustl.edu GRCh37 10 48413906 48413906 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000249598.1:c.962C>G p.Ala321Gly p.A321G ENST00000249598 NM_016204.1 321 gCc/gGc 0 Missense_Mutation G 42 GDF2 SNP 10 G C 48033912 48033912 WashU SIX5 147912 genome.wustl.edu GRCh37 19 46271385 46271385 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000317578.6:c.718C>T p.Leu240= p.L240= ENST00000317578 NM_175875.4 240 Ctg/Ttg 0 Silent G 35 SIX5 SNP 19 A A 50963225 50963225 WashU AKAP1 8165 genome.wustl.edu GRCh37 17 55194232 55194232 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337714.3:c.2444T>A p.Val815Asp p.V815D ENST00000337714 NM_003488.3 815 gTc/gAc 0 Missense_Mutation T 58 AKAP1 SNP 17 T A 52549231 52549231 WashU AURKA 6790 genome.wustl.edu GRCh37 20 54948523 54948523 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312783.6:c.795A>G p.Gly265= p.G265= ENST00000312783 NM_198436.1 265 ggA/ggG 0 Silent T 50 AURKA SNP 20 T C 54381930 54381930 WashU LYN 4067 genome.wustl.edu GRCh37 8 56879390 56879390 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000519728.1:c.907G>C p.Val303Leu p.V303L ENST00000519728 NM_002350.3 303 Gtg/Ctg 0 Missense_Mutation G 40 LYN SNP 8 G C 57041944 57041944 WashU KIAA1468 57614 genome.wustl.edu GRCh37 18 59894532 59894532 + stop_gained Nonsense_Mutation SNP T T G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398130.2:c.869T>G p.Leu290Ter p.L290* ENST00000398130 NM_020854.3 290 tTa/tGa 0 Nonsense_Mutation T 61 KIAA1468 SNP 18 T G 58045512 58045512 WashU GIF 2694 genome.wustl.edu GRCh37 11 59609970 59609970 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257248.2:c.457A>T p.Ile153Leu p.I153L ENST00000257248 NM_005142.2 153 Ata/Tta 0 Missense_Mutation T 50 GIF SNP 11 T A 59366546 59366546 WashU MYT1 4661 genome.wustl.edu GRCh37 20 62843483 62843483 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328439.1:c.1509G>A p.Thr503= p.T503= ENST00000328439 NM_004535.2 503 acG/acA 0 Silent G 38 MYT1 SNP 20 G A 62313927 62313927 WashU ZBTB1 22890 genome.wustl.edu GRCh37 14 64990179 64990179 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394712.2:c.1957A>T p.Met653Leu p.M653L ENST00000394712 NM_001123329.1 653 Atg/Ttg 0 Missense_Mutation A 16 ZBTB1 SNP 14 A T 64059932 64059932 WashU TAF1 6872 genome.wustl.edu GRCh37 X 70627868 70627868 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276072.3:c.4311C>G p.Asp1437Glu p.D1437E ENST00000276072 1437 gaC/gaG 0 Missense_Mutation C 20 TAF1 SNP 23 C G 70544593 70544593 WashU MPHOSPH10 10199 genome.wustl.edu GRCh37 2 71377105 71377105 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244230.2:c.2006A>G p.Lys669Arg p.K669R ENST00000244230 NM_005791.2 669 aAg/aGg 0 Missense_Mutation A 3 MPHOSPH10 SNP 2 A G 71230613 71230613 WashU RIMS1 22999 genome.wustl.edu GRCh37 6 72984124 72984124 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000521978.1:c.3471G>A p.Pro1157= p.P1157= ENST00000521978 NM_014989.5 1157 ccG/ccA 0 Silent G 39 RIMS1 SNP 6 G A 73040845 73040845 WashU RP11-293M10.4 genome.wustl.edu GRCh37 14 75758828 75758828 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000238638.1:n.383C>T *128* ENST00000238638 0 Missense_Mutation G 44 ENSG00000119660 SNP 14 G A 74828581 74828581 WashU C11orf30 56946 genome.wustl.edu GRCh37 11 76175080 76175080 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000529032.1:c.787T>C p.Phe263Leu p.F263L ENST00000529032 263 Ttc/Ctc 0 Missense_Mutation T 56 C11orf30 SNP 11 T C 75852728 75852728 WashU SENP6 26054 genome.wustl.edu GRCh37 6 76373130 76373130 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000447266.2:c.890C>G p.Thr297Ser p.T297S ENST00000447266 NM_015571.2 297 aCt/aGt 0 Missense_Mutation C 20 SENP6 SNP 6 C G 76429850 76429850 WashU ADCK1 57143 genome.wustl.edu GRCh37 14 78353538 78353538 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000238561.5:c.528G>T p.Lys176Asn p.K176N ENST00000238561 NM_020421.3 176 aaG/aaT 0 Missense_Mutation G 35 ADCK1 SNP 14 G T 77423291 77423291 WashU PRC1 9055 genome.wustl.edu GRCh37 15 91517424 91517424 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394249.3:c.1403C>G p.Pro468Arg p.P468R ENST00000394249 NM_003981.3 468 cCt/cGt 0 Missense_Mutation G 35 PRC1 SNP 15 G C 89318428 89318428 WashU STAG3 10734 genome.wustl.edu GRCh37 7 99796176 99796176 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000426455.1:c.1323C>A p.Ala441= p.A441= ENST00000426455 NM_001282716.1 441 gcC/gcA 0 Silent C 24 STAG3 SNP 7 C A 99634112 99634112 WashU MUC3A 4584 genome.wustl.edu GRCh37 7 100552162 100552162 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319509.7:c.913C>A p.Leu305Ile p.L305I ENST00000319509 305 Ctc/Atc 0 Missense_Mutation C 32 MUC3B SNP 7 C A 100390098 100390098 WashU STAB2 55576 genome.wustl.edu GRCh37 12 103984748 103984748 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000388887.2:c.155T>A p.Val52Asp p.V52D ENST00000388887 NM_017564.9 52 gTc/gAc 0 Missense_Mutation T 58 STAB2 SNP 12 T A 102508878 102508878 WashU ACACB 32 genome.wustl.edu GRCh37 12 109660344 109660344 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338432.7:c.3597G>A p.Ser1199= p.S1199= ENST00000338432 1199 tcG/tcA 0 Silent G 39 ACACB SNP 12 G A 108144727 108144727 WashU OVGP1 5016 genome.wustl.edu GRCh37 1 111969249 111969249 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369732.3:c.70C>G p.Leu24Val p.L24V ENST00000369732 NM_002557.3 24 Ctc/Gtc 0 Missense_Mutation G 36 OVGP1 SNP 1 G C 111770772 111770772 WashU SIK3 23387 genome.wustl.edu GRCh37 11 116732096 116732096 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000292055.4:c.2001A>C p.Leu667Phe p.L667F ENST00000292055 NM_025164.3 667 ttA/ttC 0 Missense_Mutation T 61 SIK3 SNP 11 T G 116237306 116237306 WashU INPP5F 22876 genome.wustl.edu GRCh37 10 121587056 121587056 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361976.2:c.3163G>T p.Val1055Leu p.V1055L ENST00000361976 NM_014937.3 1055 Gta/Tta 0 Missense_Mutation G 48 INPP5F SNP 10 G T 121577046 121577046 WashU BCORL1 63035 genome.wustl.edu GRCh37 X 129147148 129147148 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000540052.1:c.400A>T p.Asn134Tyr p.N134Y ENST00000540052 NM_021946.4 134 Aac/Tac 0 Missense_Mutation A 5 BCORL1 SNP 23 A T 128974829 128974829 WashU MTHFD1L 25902 genome.wustl.edu GRCh37 6 151331076 151331076 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367321.3:c.2247G>C p.Met749Ile p.M749I ENST00000367321 NM_001242768.1 749 atG/atC 0 Missense_Mutation G 46 MTHFD1L SNP 6 G C 151372769 151372769 WashU NUP210L 91181 genome.wustl.edu GRCh37 1 154033062 154033062 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368559.3:c.2804A>C p.Gln935Pro p.Q935P ENST00000368559 NM_207308.2 935 cAg/cCg 0 Missense_Mutation T 55 NUP210L SNP 1 T G 152299686 152299686 WashU NUP210L 91181 genome.wustl.edu GRCh37 1 154098925 154098925 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368559.3:c.1200A>G p.Thr400= p.T400= ENST00000368559 NM_207308.2 400 acA/acG 0 Silent T 51 NUP210L SNP 1 T C 152365549 152365549 WashU GPR149 344758 genome.wustl.edu GRCh37 3 154146603 154146603 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389740.2:c.802T>G p.Ser268Ala p.S268A ENST00000389740 NM_001038705.1 268 Tct/Gct 0 Missense_Mutation A 11 GPR149 SNP 3 A C 155629297 155629297 WashU IGF2R 3482 genome.wustl.edu GRCh37 6 160504993 160504993 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356956.1:c.5845C>G p.Arg1949Gly p.R1949G ENST00000356956 NM_000876.2 1949 Cgg/Ggg 0 Missense_Mutation C 23 IGF2R SNP 6 C G 160424983 160424983 WashU TENM2 57451 genome.wustl.edu GRCh37 5 167617460 167617460 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000518659.1:c.2688G>T p.Trp896Cys p.W896C ENST00000518659 NM_001122679.1 896 tgG/tgT 0 Missense_Mutation G 42 ODZ2 SNP 5 G T 167550038 167550038 WashU NEK1 4750 genome.wustl.edu GRCh37 4 170476982 170476982 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000507142.1:c.1451G>A p.Arg484His p.R484H ENST00000507142 NM_001199397.1 484 cGt/cAt 0 Missense_Mutation C 19 NEK1 SNP 4 C T 170713557 170713557 WashU TNIK 23043 genome.wustl.edu GRCh37 3 170857307 170857307 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000436636.2:c.1371G>T p.Gln457His p.Q457H ENST00000436636 NM_015028.2 457 caG/caT 0 Missense_Mutation C 20 TNIK SNP 3 C A 172340001 172340001 WashU PIK3CA 5290 genome.wustl.edu GRCh37 3 178928344 178928344 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263967.3:c.1530C>T p.His510= p.H510= ENST00000263967 NM_006218.2 510 caC/caT 0 Silent C 19 PIK3CA SNP 3 C T 180411038 180411038 WashU LAMP3 27074 genome.wustl.edu GRCh37 3 182870292 182870292 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265598.3:c.760-1G>C p.X254_splice ENST00000265598 NM_014398.3 0 Splice_Site_SNP C 24 LAMP3 SNP 3 C G 184352986 184352986 WashU SORBS2 8470 genome.wustl.edu GRCh37 4 186536052 186536052 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355634.5:c.3116A>G p.Glu1039Gly p.E1039G ENST00000355634 NM_001270771.1 1039 gAa/gGa 0 Missense_Mutation T 62 SORBS2 SNP 4 T C 186773046 186773046 WashU BOLL 66037 genome.wustl.edu GRCh37 2 198631309 198631309 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321801.7:c.535T>G p.Ser179Ala p.S179A ENST00000321801 NM_197970.2 179 Tcc/Gcc 0 Missense_Mutation A 11 BOLL SNP 2 A C 198339554 198339554 WashU OBSCN 84033 genome.wustl.edu GRCh37 1 228433206 228433206 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000570156.2:c.3850C>G p.Gln1284Glu p.Q1284E ENST00000570156 NM_001271223.2 1284 Cag/Gag 0 Missense_Mutation C 21 OBSCN SNP 1 C G 226499829 226499829 WashU OR2W5 401989 genome.wustl.edu GRCh37 1 247654759 247654759 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000530852.2:n.390C>A *130* ENST00000530852 0 Silent C 23 OR2W5 SNP 1 C A 245721382 245721382 WashU BRCA2 675 genome.wustl.edu GRCh37 13 32912178 32912178 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 T T T - T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380152.3:c.3688del p.Ser1230LeufsTer9 p.S1230Lfs*9 ENST00000380152 1229 gTt/gt 0 Frame_Shift_Del T 60 BRCA2 DEL 13 T - 31810178 31810178 WashU KCNA10 3744 genome.wustl.edu GRCh37 1 111060744 111060744 + synonymous_variant Silent SNP C C G Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C G C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000369771.2:c.666G>C p.Ser222= p.S222= ENST00000369771 NM_005549.2 222 tcG/tcC 0 Silent C 23 KCNA10 SNP 1 C G 110862267 110862267 WashU THNSL2 55258 genome.wustl.edu GRCh37 2 88485424 88485424 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324166.5:c.1237C>A p.Arg413= p.R413= ENST00000324166 NM_018271.4 413 Cgg/Agg 0 Missense_Mutation C 23 THNSL2 SNP 2 C A 88266539 88266539 WashU PHF21B 112885 genome.wustl.edu GRCh37 22 45312458 45312458 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313237.5:c.266A>C p.Asp89Ala p.D89A ENST00000313237 NM_138415.4 89 gAc/gCc 0 Missense_Mutation T 58 PHF21B SNP 22 T G 43691122 43691122 WashU RP11-40M23.1 genome.wustl.edu GRCh37 3 103782264 103782264 + non_coding_transcript_exon_variant RNA SNP C C G novel Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000478270.1:n.382C>G *128* ENST00000478270 0 Missense_Mutation C 17 ENSG00000214405 SNP 3 C G 105264954 105264954 WashU EVC2 132884 genome.wustl.edu GRCh37 4 5627605 5627616 + inframe_deletion In_Frame_Del DEL TTCCATTTGGTC TTCCATTTGGTC - Unknown TCGA-13-0890-01 TCGA-13-0890-10 TTCCATTTGGTC TTCCATTTGGTC TTCCATTTGGTC - TTCCATTTGGTC TTCCATTTGGTC Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000344408.5:c.1906_1917del p.Asp636_Glu639del p.D636_E639del ENST00000344408 NM_147127.4 636 GACCAAATGGAA/- 0 In_Frame_Del TTCCATTTGGTC 64 EVC2 DEL 4 TTCCATTTGGTC - 5678517 5678506 WashU AWAT1 158833 genome.wustl.edu GRCh37 X 69455988 69455988 + missense_variant,splice_region_variant Missense_Mutation SNP C C T Unknown TCGA-13-0890-01 TCGA-13-0890-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000374521.3:c.254C>T p.Thr85Met p.T85M ENST00000374521 NM_001013579.2 85 aCg/aTg 0 Missense_Mutation C 19 AWAT1 SNP 23 C T 69372713 69372713 WashU ARHGEF10L 55160 broad.mit.edu GRCh37 1 17961477 17961477 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000361221.3:c.1893C>T p.Gly631= p.G631= ENST00000361221 NM_018125.3 631 ggC/ggT 0 Silent C 27 ARHGEF10L SNP 1 C T 17834064 17834064 Broad MACF1 23499 broad.mit.edu GRCh37 1 39827223 39827223 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000545844.1:c.6459A>G p.Leu2153= p.L2153= ENST00000545844 2153 ctA/ctG 0 Silent A 14 MACF1 SNP 1 A G 39599810 39599810 Broad DAB1 1600 broad.mit.edu GRCh37 1 57480699 57480699 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000371236.2:c.1301C>A p.Pro434His p.P434H ENST00000371236 434 cCc/cAc 0 Missense_Mutation G 43 DAB1 SNP 1 G T 57253287 57253287 Broad CEPT1 10390 broad.mit.edu GRCh37 1 111703829 111703829 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000545121.1:c.540T>C p.Asp180= p.D180= ENST00000545121 NM_001007794.1 180 gaT/gaC 0 Silent T 52 CEPT1 SNP 1 T C 111505352 111505352 Broad TBX15 6913 broad.mit.edu GRCh37 1 119427404 119427404 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000207157.3:c.1442A>T p.Tyr481Phe p.Y481F ENST00000207157 NM_152380.2 481 tAt/tTt 0 Missense_Mutation T 49 TBX15 SNP 1 T A 119228927 119228927 Broad ADCY10 55811 broad.mit.edu GRCh37 1 167847868 167847868 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000367851.4:c.1222G>T p.Gly408Cys p.G408C ENST00000367851 NM_018417.4 408 Ggt/Tgt 0 Missense_Mutation C 21 ADCY10 SNP 1 C A 166114492 166114492 Broad PPP1R12B 4660 broad.mit.edu GRCh37 1 202385964 202385964 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000608999.1:c.341G>C p.Arg114Thr p.R114T ENST00000608999 NM_002481.3 114 aGa/aCa 0 Missense_Mutation G 33 PPP1R12B SNP 1 G C 200652587 200652587 Broad GFRA1 2674 broad.mit.edu GRCh37 10 117856204 117856204 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000355422.6:c.842A>T p.Asn281Ile p.N281I ENST00000355422 NM_005264.4 281 aAc/aTc 0 Missense_Mutation T 60 GFRA1 SNP 10 T A 117846194 117846194 Broad OR5M11 219487 broad.mit.edu GRCh37 11 56310660 56310660 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000528616.2:c.74C>G p.Ser25Cys p.S25C ENST00000528616 NM_001005245.1 25 tCt/tGt 0 Missense_Mutation G 33 OR5M11 SNP 11 G C 56067236 56067236 Broad NRXN2 9379 broad.mit.edu GRCh37 11 64428304 64428304 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000265459.6:c.2106G>T p.Gly702= p.G702= ENST00000265459 NM_015080.3 702 ggG/ggT 0 Silent C 22 NRXN2 SNP 11 C A 64184880 64184880 Broad AP5B1 91056 broad.mit.edu GRCh37 11 65546387 65546387 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000532090.2:c.1577T>G p.Val526Gly p.V526G ENST00000532090 NM_138368.4 526 gTg/gGg 0 Missense_Mutation A 6 DKFZp761E198 SNP 11 A C 65302963 65302963 Broad RAB1B 81876 broad.mit.edu GRCh37 11 66043557 66043557 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000311481.6:c.454G>A p.Ala152Thr p.A152T ENST00000311481 NM_030981.2 152 Gcc/Acc 0 Missense_Mutation G 38 RAB1B SNP 11 G A 65800133 65800133 Broad NTF3 4908 broad.mit.edu GRCh37 12 5603753 5603753 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000423158.3:c.412G>C p.Gly138Arg p.G138R ENST00000423158 NM_001102654.1 138 Ggc/Cgc 0 Missense_Mutation G 43 NTF3 SNP 12 G C 5474014 5474014 Broad CUX2 23316 broad.mit.edu GRCh37 12 111785434 111785434 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000261726.6:c.3766C>T p.Pro1256Ser p.P1256S ENST00000261726 NM_015267.3 1256 Ccc/Tcc 0 Missense_Mutation C 22 CUX2 SNP 12 C T 110269817 110269817 Broad FLT3 2322 broad.mit.edu GRCh37 13 28609758 28609758 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000241453.7:c.1471G>C p.Val491Leu p.V491L ENST00000241453 NM_004119.2 491 Gtg/Ctg 0 Missense_Mutation C 20 FLT3 SNP 13 C G 27507758 27507758 Broad NID2 22795 broad.mit.edu GRCh37 14 52478316 52478316 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000216286.5:c.3506C>G p.Ala1169Gly p.A1169G ENST00000216286 NM_007361.3 1169 gCt/gGt 0 Missense_Mutation G 34 NID2 SNP 14 G C 51548066 51548066 Broad AQR 9716 broad.mit.edu GRCh37 15 35230978 35230978 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000156471.5:c.678C>T p.Ile226= p.I226= ENST00000156471 NM_014691.2 226 atC/atT 0 Silent G 41 AQR SNP 15 G A 33018270 33018270 Broad ZNF106 64397 broad.mit.edu GRCh37 15 42744056 42744056 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000263805.4:c.345G>T p.Glu115Asp p.E115D ENST00000263805 NM_022473.1 115 gaG/gaT 0 Missense_Mutation C 32 ZFP106 SNP 15 C A 40531348 40531348 Broad C15orf40 123207 broad.mit.edu GRCh37 15 83680351 83680351 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000451195.3:c.9G>A p.Arg3= p.R3= ENST00000451195 NM_001160115.1 3 cgG/cgA 0 Silent C 26 C15orf40 SNP 15 C T 81471355 81471355 Broad ZNF629 23361 broad.mit.edu GRCh37 16 30794743 30794743 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000262525.4:c.906C>A p.Asn302Lys p.N302K ENST00000262525 NM_001080417.1 302 aaC/aaA 0 Missense_Mutation G 44 ZNF629 SNP 16 G T 30702244 30702244 Broad AP2B1 163 broad.mit.edu GRCh37 17 34044340 34044340 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000312678.8:c.2753G>C p.Arg918Pro p.R918P ENST00000312678 NM_001030006.1 918 cGt/cCt 0 Missense_Mutation G 40 AP2B1 SNP 17 G C 31068453 31068453 Broad NOG 9241 broad.mit.edu GRCh37 17 54672169 54672169 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000332822.4:c.585C>T p.Ser195= p.S195= ENST00000332822 NM_005450.4 195 tcC/tcT 0 Silent C 21 NOG SNP 17 C T 52027168 52027168 Broad HSF5 124535 broad.mit.edu GRCh37 17 56557583 56557583 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000323777.3:c.596G>C p.Ser199Thr p.S199T ENST00000323777 NM_001080439.1 199 aGt/aCt 0 Missense_Mutation C 20 HSF5 SNP 17 C G 53912582 53912582 Broad SEPT4 5414 broad.mit.edu GRCh37 17 56604318 56604318 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000457347.2:c.127A>C p.Thr43Pro p.T43P ENST00000457347 NM_001256782.1 43 Acc/Ccc 0 Missense_Mutation T 59 SEPT4 SNP 17 T G 53959317 53959317 Broad KIAA0195 9772 broad.mit.edu GRCh37 17 73491027 73491027 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000314256.7:c.2640C>G p.Ser880= p.S880= ENST00000314256 NM_014738.4 880 tcC/tcG 0 Silent C 22 KIAA0195 SNP 17 C G 71002622 71002622 Broad MRPL38 64978 broad.mit.edu GRCh37 17 73897323 73897323 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000309352.3:c.623C>T p.Ala208Val p.A208V ENST00000309352 NM_032478.3 208 gCa/gTa 0 Missense_Mutation G 46 MRPL38 SNP 17 G A 71408918 71408918 Broad ACTG1 71 broad.mit.edu GRCh37 17 79478478 79478478 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000575842.1:c.538C>G p.Leu180Val p.L180V ENST00000575842 180 Ctg/Gtg 0 Missense_Mutation G 35 ACTG1 SNP 17 G C 77093073 77093073 Broad DSG4 147409 broad.mit.edu GRCh37 18 28971095 28971095 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000359747.4:c.739G>A p.Asp247Asn p.D247N ENST00000359747 NM_001134453.1 247 Gat/Aat 0 Missense_Mutation G 33 DSG4 SNP 18 G A 27225093 27225093 Broad PEX11G 92960 broad.mit.edu GRCh37 19 7550868 7550868 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000221480.1:c.105G>C p.Leu35= p.L35= ENST00000221480 NM_001270539.1 35 ctG/ctC 0 Silent C 21 PEX11G SNP 19 C G 7456868 7456868 Broad MUC16 94025 broad.mit.edu GRCh37 19 9060436 9060436 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000397910.4:c.27010C>G p.Pro9004Ala p.P9004A ENST00000397910 NM_024690.2 9004 Cca/Gca 0 Missense_Mutation G 44 MUC16 SNP 19 G C 8921436 8921436 Broad ZNF14 7561 broad.mit.edu GRCh37 19 19822497 19822497 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000344099.3:c.1593T>A p.Phe531Leu p.F531L ENST00000344099 NM_021030.2 531 ttT/ttA 0 Missense_Mutation A 5 ZNF14 SNP 19 A T 19683497 19683497 Broad NLRP4 147945 broad.mit.edu GRCh37 19 56370354 56370354 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000301295.6:c.1595A>G p.His532Arg p.H532R ENST00000301295 NM_134444.4 532 cAc/cGc 0 Missense_Mutation A 6 NLRP4 SNP 19 A G 61062166 61062166 Broad LMAN2L 81562 broad.mit.edu GRCh37 2 97369334 97369334 + downstream_gene_variant 3'Flank SNP G G A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000377079 NM_001142292.1 0 Silent G 39 FER1L5 SNP 2 G A 96733061 96733061 Broad IL37 27178 broad.mit.edu GRCh37 2 113676282 113676282 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000263326.3:c.553G>C p.Glu185Gln p.E185Q ENST00000263326 NM_014439.3 185 Gag/Cag 0 Missense_Mutation G 45 IL1F7 SNP 2 G C 113392753 113392753 Broad IL1RN 3557 broad.mit.edu GRCh37 2 113888704 113888704 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000259206.5:c.297G>T p.Lys99Asn p.K99N ENST00000259206 NM_173841.2 99 aaG/aaT 0 Missense_Mutation G 36 IL1RN SNP 2 G T 113605175 113605175 Broad NCKAP5 344148 broad.mit.edu GRCh37 2 133540222 133540222 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000409261.1:c.4162C>G p.Gln1388Glu p.Q1388E ENST00000409261 NM_207363.2 1388 Cag/Gag 0 Missense_Mutation G 47 NCKAP5 SNP 2 G C 133256692 133256692 Broad NEUROD1 4760 broad.mit.edu GRCh37 2 182543103 182543103 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000295108.3:c.485G>C p.Ser162Thr p.S162T ENST00000295108 NM_002500.4 162 aGc/aCc 0 Missense_Mutation C 28 NEUROD1 SNP 2 C G 182251348 182251348 Broad MC3R 4159 broad.mit.edu GRCh37 20 54824551 54824551 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000243911.2:c.652G>A p.Val218Ile p.V218I ENST00000243911 NM_019888.3 218 Gtc/Atc 0 Missense_Mutation G 40 MC3R SNP 20 G A 54257958 54257958 Broad GNAT1 2779 broad.mit.edu GRCh37 3 50230598 50230598 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000232461.3:c.139A>C p.Lys47Gln p.K47Q ENST00000232461 NM_144499.2 47 Aag/Cag 0 Missense_Mutation A 5 GNAT1 SNP 3 A C 50205602 50205602 Broad ZNF654 55279 broad.mit.edu GRCh37 3 88188865 88188865 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000309495.5:c.405T>C p.Pro135= p.P135= ENST00000309495 NM_018293.2 135 ccT/ccC 0 Silent T 53 ZNF654 SNP 3 T C 88271555 88271555 Broad CCDC80 151887 broad.mit.edu GRCh37 3 112357631 112357631 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000206423.3:c.1122A>T p.Arg374Ser p.R374S ENST00000206423 NM_199512.1 374 agA/agT 0 Missense_Mutation T 58 CCDC80 SNP 3 T A 113840321 113840321 Broad GSK3B 2932 broad.mit.edu GRCh37 3 119666118 119666118 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000316626.5:c.363G>C p.Glu121Asp p.E121D ENST00000316626 121 gaG/gaC 0 Missense_Mutation C 32 GSK3B SNP 3 C G 121148808 121148808 Broad KBTBD12 166348 broad.mit.edu GRCh37 3 127642767 127642767 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000405109.1:c.863G>C p.Arg288Thr p.R288T ENST00000405109 288 aGa/aCa 0 Missense_Mutation G 33 KBTBD12 SNP 3 G C 129125457 129125457 Broad EFCAB12 90288 broad.mit.edu GRCh37 3 129120635 129120635 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000505956.1:c.1520C>T p.Pro507Leu p.P507L ENST00000505956 NM_207307.1 507 cCg/cTg 0 Missense_Mutation G 39 C3orf25 SNP 3 G A 130603325 130603325 Broad KLHL6 89857 broad.mit.edu GRCh37 3 183217473 183217474 + missense_variant Missense_Mutation DNP GC GC AA novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000341319.3:c.1051_1052delinsTT p.Ala351Phe p.A351F ENST00000341319 NM_130446.2 351 GCc/TTc 0 Missense_Mutation GC 42 KLHL6 DNP 3 GC AA 184700168 184700167 Broad LRRC15 131578 broad.mit.edu GRCh37 3 194080481 194080481 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000439944.2:c.1310T>C p.Ile437Thr p.I437T ENST00000439944 NM_001135057.2 437 aTc/aCc 0 Missense_Mutation A 12 LRRC15 SNP 3 A G 195561776 195561776 Broad SNCA 6622 broad.mit.edu GRCh37 4 90756762 90756762 + synonymous_variant Silent SNP A A T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000394986.1:c.57T>A p.Ala19= p.A19= ENST00000394986 19 gcT/gcA 0 Silent A 7 SNCA SNP 4 A T 90975785 90975785 Broad FBXW7 55294 broad.mit.edu GRCh37 4 153244080 153244080 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000281708.4:c.2077G>A p.Glu693Lys p.E693K ENST00000281708 NM_033632.3 693 Gaa/Aaa 0 Missense_Mutation C 29 FBXW7 SNP 4 C T 153463530 153463530 Broad PDZD2 23037 broad.mit.edu GRCh37 5 32061116 32061116 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000438447.1:c.2327A>T p.Asp776Val p.D776V ENST00000438447 776 gAt/gTt 0 Missense_Mutation A 12 PDZD2 SNP 5 A T 32096873 32096873 Broad RASA1 5921 broad.mit.edu GRCh37 5 86672296 86672296 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000274376.6:c.2098G>T p.Gly700Cys p.G700C ENST00000274376 NM_002890.2 700 Ggt/Tgt 0 Missense_Mutation G 35 RASA1 SNP 5 G T 86708052 86708052 Broad KCTD16 57528 broad.mit.edu GRCh37 5 143586849 143586849 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000507359.3:c.572G>A p.Arg191Gln p.R191Q ENST00000507359 NM_020768.3 191 cGg/cAg 0 Missense_Mutation G 39 KCTD16 SNP 5 G A 143567042 143567042 Broad DSP 1832 broad.mit.edu GRCh37 6 7575671 7575671 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000379802.3:c.2580C>T p.Val860= p.V860= ENST00000379802 NM_004415.2 860 gtC/gtT 0 Silent C 29 DSP SNP 6 C T 7520670 7520670 Broad SCAND3 114821 broad.mit.edu GRCh37 6 28541351 28541351 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000452236.2:c.2315A>T p.Lys772Ile p.K772I ENST00000452236 NM_052923.1 772 aAa/aTa 0 Missense_Mutation T 64 SCAND3 SNP 6 T A 28649330 28649330 Broad MRPS18B 28973 broad.mit.edu GRCh37 6 30592684 30592684 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000259873.4:c.446G>A p.Arg149Gln p.R149Q ENST00000259873 NM_014046.3 149 cGg/cAg 0 Missense_Mutation G 39 MRPS18B SNP 6 G A 30700663 30700663 Broad TIAM2 26230 broad.mit.edu GRCh37 6 155451255 155451255 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000461783.3:c.898C>T p.Arg300Trp p.R300W ENST00000461783 300 Cgg/Tgg 0 Missense_Mutation C 23 TIAM2 SNP 6 C T 155492947 155492947 Broad IQCE 23288 broad.mit.edu GRCh37 7 2629721 2629721 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000402050.2:c.1225G>A p.Glu409Lys p.E409K ENST00000402050 NM_152558.3 409 Gag/Aag 0 Missense_Mutation G 41 IQCE SNP 7 G A 2596247 2596247 Broad ACTR3B 57180 broad.mit.edu GRCh37 7 152551587 152551587 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000256001.8:c.1206G>T p.Glu402Asp p.E402D ENST00000256001 NM_020445.5 402 gaG/gaT 0 Missense_Mutation G 36 ACTR3B SNP 7 G T 152182520 152182520 Broad GPR124 25960 broad.mit.edu GRCh37 8 37672441 37672441 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000412232.2:c.294G>T p.Gly98= p.G98= ENST00000412232 NM_032777.9 98 ggG/ggT 0 Silent G 42 GPR124 SNP 8 G T 37791599 37791599 Broad TSNARE1 203062 broad.mit.edu GRCh37 8 143413137 143413137 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000307180.3:c.801C>T p.Asn267= p.N267= ENST00000307180 NM_145003.3 267 aaC/aaT 0 Silent G 40 TSNARE1 SNP 8 G A 143411044 143411044 Broad SMC2 10592 broad.mit.edu GRCh37 9 106858434 106858434 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown x x x ENST00000286398.7:c.174G>A p.Arg58= p.R58= ENST00000286398 NM_006444.2 58 cgG/cgA 0 Silent G 43 SMC2 SNP 9 G A 105898255 105898255 Broad NBPF10 100132406 broad.mit.edu GRCh37 1 145362099 145362100 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000342960.5:c.9407_9408insC p.Ser3137Ter p.S3137* ENST00000342960 NM_001039703.5 3136 ctt/ctCt 0 Frame_Shift_Ins - 56 NBPF10 INS 1 C - 144073457 144073456 Broad YOD1 55432 broad.mit.edu GRCh37 1 207222733 207222741 + inframe_deletion In_Frame_Del DEL TCGATATCT TCGATATCT - novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000315927.4:c.671_679del p.Glu224_Ile227delinsVal p.E224_I227delinsV ENST00000315927 NM_018566.3 224 gAGATATCGAtt/gtt 0 In_Frame_Del TCGATATCT 50 YOD1 DEL 1 - TCGATATCT 205289364 205289356 Broad TP53 7157 broad.mit.edu GRCh37 17 7579535 7579536 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.151dup p.Glu51GlyfsTer6 p.E51Gfs*6 ENST00000269305 NM_001126112.2 51 gaa/gGaa 0 Frame_Shift_Ins - 62 TP53 INS 17 C - 7520261 7520260 Broad AKAP10 11216 broad.mit.edu GRCh37 17 19861389 19861390 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000225737.6:c.814dup p.Thr272AsnfsTer5 p.T272Nfs*5 ENST00000225737 NM_007202.3 272 aca/aAca 0 Frame_Shift_Ins - 48 AKAP10 INS 17 T - 19801982 19801981 Broad ANKRD7 56311 broad.mit.edu GRCh37 7 117864925 117864931 + frameshift_variant Frame_Shift_Del DEL CCCGCAG CCCGCAG - novel Unknown TCGA-25-2391-01 TCGA-25-2391-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000265224.4:c.43_49del p.Ser16AlafsTer9 p.S16Afs*9 ENST00000265224 NM_019644.3 14 aCCCGCAGc/ac 0 Frame_Shift_Del CCCGCAG 18 ANKRD7 DEL 7 - CCCGCAG 117652167 117652161 Broad ABCC1 4363 hgsc.bcm.edu GRCh37 16 16130388 16130388 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399410.3:c.737A>C p.Lys246Thr p.K246T ENST00000399410 NM_004996.3 246 aAg/aCg 0 Missense_Mutation A 3 ABCC1 SNP 16 A C 16037889 16037889 Baylor AHNAK2 113146 hgsc.bcm.edu GRCh37 14 105404929 105404930 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000333244.5:c.16858dup p.Gln5620ProfsTer10 p.Q5620Pfs*10 ENST00000333244 NM_138420.2 5620 caa/cCaa 0 Frame_Shift_Ins - 63 AHNAK2 INS 14 - G 104475975 104475974 Baylor ANKRD17 26057 hgsc.bcm.edu GRCh37 4 73951137 73951137 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358602.4:c.6988G>A p.Gly2330Ser p.G2330S ENST00000358602 NM_032217.3 2330 Ggt/Agt 0 Missense_Mutation C 21 ANKRD17 SNP 4 C T 74170001 74170001 Baylor ARL8A 127829 hgsc.bcm.edu GRCh37 1 202104655 202104655 + splice_acceptor_variant Splice_Site SNP C C A novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000272217.2:c.373-1G>T p.X125_splice ENST00000272217 NM_001256129.1 0 Splice_Site_SNP C 24 ARL8A SNP 1 C A 200371278 200371278 Baylor ATP13A2 23400 hgsc.bcm.edu GRCh37 1 17319010 17319010 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000326735.8:c.1816C>G p.Pro606Ala p.P606A ENST00000326735 606 Cca/Gca 0 Missense_Mutation G 43 ATP13A2 SNP 1 G C 17191597 17191597 Baylor ATP9A 10079 hgsc.bcm.edu GRCh37 20 50255883 50255883 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000338821.5:c.1667G>A p.Arg556Gln p.R556Q ENST00000338821 NM_006045.1 556 cGg/cAg 0 Missense_Mutation C 23 ATP9A SNP 20 C T 49689290 49689290 Baylor BPIFB3 359710 hgsc.bcm.edu GRCh37 20 31656703 31656703 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375494.3:c.1073T>A p.Val358Asp p.V358D ENST00000375494 NM_182658.1 358 gTc/gAc 0 Missense_Mutation T 58 C20orf185 SNP 20 T A 31120364 31120364 Baylor SLC35F6 54978 hgsc.bcm.edu GRCh37 2 26999335 26999335 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000344420.5:c.631G>T p.Ala211Ser p.A211S ENST00000344420 NM_017877.3 211 Gca/Tca 0 Missense_Mutation G 42 C2orf18 SNP 2 G T 26852839 26852839 Baylor CABLES1 91768 hgsc.bcm.edu GRCh37 18 20833760 20833760 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000256925.7:c.1621G>A p.Ala541Thr p.A541T ENST00000256925 NM_001100619.2 541 Gcc/Acc 0 Missense_Mutation G 42 CABLES1 SNP 18 G A 19087758 19087758 Baylor CELA1 1990 hgsc.bcm.edu GRCh37 12 51723598 51723599 + frameshift_variant Frame_Shift_Ins INS - - G rs17860363 Unknown TCGA-04-1530-01 TCGA-04-1530-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000293636.1:c.628dupC p.Leu210ProfsTer24 p.L210Pfs*24 ENST00000293636 NM_001971.5 210 ctc/cCtc 0 Frame_Shift_Ins - 11 CELA1 INS 12 - G 50009866 50009865 Baylor COL14A1 7373 hgsc.bcm.edu GRCh37 8 121259876 121259876 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000297848.3:c.2504T>C p.Leu835Ser p.L835S ENST00000297848 NM_021110.2 835 tTg/tCg 0 Missense_Mutation T 63 COL14A1 SNP 8 T C 121329057 121329057 Baylor CSNK1A1L 122011 hgsc.bcm.edu GRCh37 13 37679077 37679077 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000379800.3:c.317G>A p.Arg106Lys p.R106K ENST00000379800 NM_145203.5 106 aGa/aAa 0 Missense_Mutation C 32 CSNK1A1L SNP 13 C T 36577077 36577077 Baylor CYP26A1 1592 hgsc.bcm.edu GRCh37 10 94835617 94835617 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000224356.4:c.899G>C p.Gly300Ala p.G300A ENST00000224356 NM_000783.3 300 gGa/gCa 0 Missense_Mutation G 41 CYP26A1 SNP 10 G C 94825607 94825607 Baylor DHX8 1659 hgsc.bcm.edu GRCh37 17 41571123 41571123 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262415.3:c.1081G>T p.Glu361Ter p.E361* ENST00000262415 NM_004941.1 361 Gag/Tag 0 Nonsense_Mutation G 41 DHX8 SNP 17 G T 38926649 38926649 Baylor DNMT3B 1789 hgsc.bcm.edu GRCh37 20 31376728 31376728 + synonymous_variant Silent SNP C C G novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328111.2:c.723C>G p.Ala241= p.A241= ENST00000328111 NM_006892.3 241 gcC/gcG 0 Silent C 21 DNMT3B SNP 20 C G 30840389 30840389 Baylor DOPEY2 9980 hgsc.bcm.edu GRCh37 21 37609580 37609580 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399151.3:c.2643G>C p.Trp881Cys p.W881C ENST00000399151 NM_005128.2 881 tgG/tgC 0 Missense_Mutation G 41 DOPEY2 SNP 21 G C 36531450 36531450 Baylor FABP3 2170 hgsc.bcm.edu GRCh37 1 31845809 31845809 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373713.2:c.53A>T p.Asp18Val p.D18V ENST00000373713 NM_004102.3 18 gAt/gTt 0 Missense_Mutation T 50 FABP3 SNP 1 T A 31618396 31618396 Baylor FER1L6 654463 hgsc.bcm.edu GRCh37 8 125047661 125047661 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000522917.1:c.2430C>T p.Gly810= p.G810= ENST00000522917 NM_001039112.2 810 ggC/ggT 0 Silent C 25 FER1L6 SNP 8 C T 125116842 125116842 Baylor FKBP9 11328 hgsc.bcm.edu GRCh37 7 33016064 33016064 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000242209.4:c.656G>A p.Arg219His p.R219H ENST00000242209 NM_007270.3 219 cGc/cAc 0 Missense_Mutation G 38 FKBP9 SNP 7 G A 32982589 32982589 Baylor FLVCR2 55640 hgsc.bcm.edu GRCh37 14 76107536 76107536 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000238667.4:c.1353C>A p.Ile451= p.I451= ENST00000238667 NM_017791.2 451 atC/atA 0 Silent C 29 FLVCR2 SNP 14 C A 75177289 75177289 Baylor FMN1 342184 hgsc.bcm.edu GRCh37 15 33091129 33091129 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000334528.9:c.3337G>A p.Gly1113Arg p.G1113R ENST00000334528 NM_001103184.3 1113 Ggg/Agg 0 Missense_Mutation C 21 FMN1 SNP 15 C T 30878421 30878421 Baylor FOXP3 50943 hgsc.bcm.edu GRCh37 X 49113978 49113978 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000376207.4:c.360G>A p.Val120= p.V120= ENST00000376207 NM_014009.3 120 gtG/gtA 0 Silent C 25 FOXP3 SNP 23 C T 49000922 49000922 Baylor GRIK3 2899 hgsc.bcm.edu GRCh37 1 37271784 37271784 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373091.3:c.2235C>T p.Tyr745= p.Y745= ENST00000373091 NM_000831.3 745 taC/taT 0 Silent G 40 GRIK3 SNP 1 G A 37044371 37044371 Baylor GRIN2B 2904 hgsc.bcm.edu GRCh37 12 13716935 13716935 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000609686.1:c.3237G>A p.Lys1079= p.K1079= ENST00000609686 NM_000834.3 1079 aaG/aaA 0 Silent C 32 GRIN2B SNP 12 C T 13608202 13608202 Baylor GRIN2B 2904 hgsc.bcm.edu GRCh37 12 13716950 13716950 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000609686.1:c.3222G>A p.Glu1074= p.E1074= ENST00000609686 NM_000834.3 1074 gaG/gaA 0 Silent C 24 GRIN2B SNP 12 C T 13608217 13608217 Baylor GTF3C3 9330 hgsc.bcm.edu GRCh37 2 197639868 197639868 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263956.3:c.1803C>G p.Asp601Glu p.D601E ENST00000263956 NM_012086.4 601 gaC/gaG 0 Missense_Mutation G 44 GTF3C3 SNP 2 G C 197348113 197348113 Baylor IDI2 91734 hgsc.bcm.edu GRCh37 10 1066735 1066735 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000277517.1:c.338A>C p.Gln113Pro p.Q113P ENST00000277517 NM_033261.2 113 cAa/cCa 0 Missense_Mutation T 63 IDI2 SNP 10 T G 1056735 1056735 Baylor IL22 50616 hgsc.bcm.edu GRCh37 12 68647174 68647174 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000538666.1:c.55A>G p.Ser19Gly p.S19G ENST00000538666 19 Agc/Ggc 0 Missense_Mutation T 55 IL22 SNP 12 T C 66933441 66933441 Baylor IFNLR1 163702 hgsc.bcm.edu GRCh37 1 24484066 24484066 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000327535.1:c.1117C>G p.Pro373Ala p.P373A ENST00000327535 NM_170743.3 373 Cct/Gct 0 Missense_Mutation G 41 IL28RA SNP 1 G C 24356653 24356653 Baylor KIAA2018 205717 hgsc.bcm.edu GRCh37 3 113377826 113377826 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000316407.4:c.2703T>C p.His901= p.H901= ENST00000316407 NM_001009899.2 901 caT/caC 0 Silent A 4 KIAA2018 SNP 3 A G 114860516 114860516 Baylor MAGEB1 4112 hgsc.bcm.edu GRCh37 X 30268730 30268730 + synonymous_variant Silent SNP C C G novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378981.3:c.120C>G p.Ser40= p.S40= ENST00000378981 NM_002363.4 40 tcC/tcG 0 Silent C 24 MAGEB1 SNP 23 C G 30178651 30178651 Baylor MAOA 4128 hgsc.bcm.edu GRCh37 X 43603056 43603061 + inframe_deletion In_Frame_Del DEL CGTGGG CGTGGG - novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 CGTGGG CGTGGG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000338702.3:c.1279_1284del p.Val427_Gly428del p.V427_G428del ENST00000338702 NM_000240.3 426 ccCGTGGGc/ccc 0 In_Frame_Del CGTGGG 23 MAOA DEL 23 CGTGGG - 43488005 43488000 Baylor MAPRE3 22924 hgsc.bcm.edu GRCh37 2 27248516 27248517 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000233121.2:c.543dupC p.Cys182LeufsTer16 p.C182Lfs*16 ENST00000233121 179 gcc/gCcc 0 Frame_Shift_Ins - 42 MAPRE3 INS 2 - C 27102021 27102020 Baylor MEF2C 4208 hgsc.bcm.edu GRCh37 5 88018549 88018549 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000340208.5:c.1324G>T p.Asp442Tyr p.D442Y ENST00000340208 NM_001193347.1 442 Gac/Tac 0 Missense_Mutation C 31 MEF2C SNP 5 C A 88054305 88054305 Baylor KMT2E 55904 hgsc.bcm.edu GRCh37 7 104752614 104752614 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311117.3:c.4411T>A p.Ser1471Thr p.S1471T ENST00000311117 NM_182931.2 1471 Tca/Aca 0 Missense_Mutation T 62 MLL5 SNP 7 T A 104539850 104539850 Baylor MORN1 79906 hgsc.bcm.edu GRCh37 1 2317304 2317304 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378531.3:c.391G>A p.Val131Met p.V131M ENST00000378531 NM_024848.1 131 Gtg/Atg 0 Missense_Mutation C 20 MORN1 SNP 1 C T 2307164 2307164 Baylor MUC16 94025 hgsc.bcm.edu GRCh37 19 9087711 9087711 + synonymous_variant Silent SNP A A T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397910.4:c.4104T>A p.Pro1368= p.P1368= ENST00000397910 NM_024690.2 1368 ccT/ccA 0 Silent A 15 MUC16 SNP 19 A T 8948711 8948711 Baylor NAV1 89796 hgsc.bcm.edu GRCh37 1 201779701 201779701 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367296.4:c.4612A>G p.Lys1538Glu p.K1538E ENST00000367296 NM_020443.4 1538 Aag/Gag 0 Missense_Mutation A 5 NAV1 SNP 1 A G 200046324 200046324 Baylor NOL8 55035 hgsc.bcm.edu GRCh37 9 95077666 95077666 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000545558.1:c.1241A>C p.Asn414Thr p.N414T ENST00000545558 414 aAt/aCt 0 Missense_Mutation T 52 NOL8 SNP 9 T G 94117487 94117487 Baylor OLFM3 118427 hgsc.bcm.edu GRCh37 1 102302461 102302461 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370103.4:c.190A>T p.Arg64Trp p.R64W ENST00000370103 NM_058170.2 64 Agg/Tgg 0 Missense_Mutation T 55 OLFM3 SNP 1 T A 102075049 102075049 Baylor OR7D2 162998 hgsc.bcm.edu GRCh37 19 9297069 9297069 + synonymous_variant Silent SNP T T A novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000344248.2:c.612T>A p.Gly204= p.G204= ENST00000344248 NM_175883.2 204 ggT/ggA 0 Silent T 59 OR7D2 SNP 19 T A 9158069 9158069 Baylor PMFBP1 83449 hgsc.bcm.edu GRCh37 16 72159992 72159992 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000237353.10:c.2128C>A p.Gln710Lys p.Q710K ENST00000237353 NM_031293.2 710 Cag/Aag 0 Missense_Mutation G 47 PMFBP1 SNP 16 G T 70717493 70717493 Baylor PRAMEF3 401940 hgsc.bcm.edu GRCh37 1 13330767 13330767 + synonymous_variant Silent SNP G G C rs1320957 Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000376173.3:c.519C>G p.Val173= p.V173= ENST00000376173 NM_001013692.1 173 gtC/gtG 0 Silent G 41 PRAMEF3 SNP 1 G C 13203354 13203354 Baylor PTPDC1 138639 hgsc.bcm.edu GRCh37 9 96859668 96859668 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000288976.3:c.814G>C p.Val272Leu p.V272L ENST00000288976 NM_001253829.1 272 Gtg/Ctg 0 Missense_Mutation G 48 PTPDC1 SNP 9 G C 95899489 95899489 Baylor RBBP6 5930 hgsc.bcm.edu GRCh37 16 24578678 24578678 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000319715.4:c.1804C>T p.Pro602Ser p.P602S ENST00000319715 NM_006910.4 602 Cca/Tca 0 Missense_Mutation C 30 RBBP6 SNP 16 C T 24486179 24486179 Baylor RBM20 282996 hgsc.bcm.edu GRCh37 10 112581637 112581638 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369519.3:c.3267dupC p.Ile1090HisfsTer4 p.I1090Hfs*4 ENST00000369519 NM_001134363.1 1087 agc/agCc 0 Frame_Shift_Ins - 34 RBM20 INS 10 - C 112571628 112571627 Baylor RNASE11 122651 hgsc.bcm.edu GRCh37 14 21052068 21052068 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000610205.1:c.566T>G p.Leu189Arg p.L189R ENST00000610205 NM_145250.3 189 cTg/cGg 0 Missense_Mutation A 7 RNASE11 SNP 14 A C 20121908 20121908 Baylor SCUBE1 80274 hgsc.bcm.edu GRCh37 22 43604161 43604161 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360835.4:c.2651G>A p.Arg884His p.R884H ENST00000360835 NM_173050.3 884 cGc/cAc 0 Missense_Mutation C 27 SCUBE1 SNP 22 C T 41934105 41934105 Baylor SCYL1 57410 hgsc.bcm.edu GRCh37 11 65303522 65303522 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000270176.5:c.1485C>G p.His495Gln p.H495Q ENST00000270176 NM_020680.3 495 caC/caG 0 Missense_Mutation C 17 SCYL1 SNP 11 C G 65060098 65060098 Baylor SETD4 54093 hgsc.bcm.edu GRCh37 21 37420633 37420633 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399215.1:c.269G>A p.Arg90Gln p.R90Q ENST00000399215 90 cGa/cAa 0 Missense_Mutation C 31 SETD4 SNP 21 C T 36342503 36342503 Baylor SIRPD 128646 hgsc.bcm.edu GRCh37 20 1532543 1532543 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381623.3:c.215G>A p.Arg72Gln p.R72Q ENST00000381623 72 cGg/cAg 0 Missense_Mutation C 23 SIRPD SNP 20 C T 1480543 1480543 Baylor SLC16A9 220963 hgsc.bcm.edu GRCh37 10 61413432 61413432 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395348.3:c.1351+1G>A p.X451_splice ENST00000395348 NM_194298.2 0 Splice_Site_SNP C 18 SLC16A9 SNP 10 C T 61083438 61083438 Baylor SLC25A44 9673 hgsc.bcm.edu GRCh37 1 156177778 156177778 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359511.4:c.727A>T p.Met243Leu p.M243L ENST00000359511 NM_014655.2 243 Atg/Ttg 0 Missense_Mutation A 8 SLC25A44 SNP 1 A T 154444402 154444402 Baylor SLC26A7 115111 hgsc.bcm.edu GRCh37 8 92355655 92355655 + synonymous_variant Silent SNP A A T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000309536.2:c.1101A>T p.Gly367= p.G367= ENST00000309536 NM_134266.1 367 ggA/ggT 0 Silent A 9 SLC26A7 SNP 8 A T 92424831 92424831 Baylor SLC9A5 6553 hgsc.bcm.edu GRCh37 16 67288982 67288982 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000299798.11:c.549G>A p.Ala183= p.A183= ENST00000299798 NM_004594.2 183 gcG/gcA 0 Silent G 39 SLC9A5 SNP 16 G A 65846483 65846483 Baylor SMARCAL1 50485 hgsc.bcm.edu GRCh37 2 217280023 217280023 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000357276.4:c.596C>G p.Pro199Arg p.P199R ENST00000357276 NM_014140.3 199 cCt/cGt 0 Missense_Mutation C 24 SMARCAL1 SNP 2 C G 216988268 216988268 Baylor SORT1 6272 hgsc.bcm.edu GRCh37 1 109857366 109857366 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000256637.6:c.2285C>G p.Ala762Gly p.A762G ENST00000256637 NM_002959.5 762 gCc/gGc 0 Missense_Mutation G 42 SORT1 SNP 1 G C 109658889 109658889 Baylor SPINT4 391253 hgsc.bcm.edu GRCh37 20 44351107 44351107 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000279058.3:c.101G>A p.Cys34Tyr p.C34Y ENST00000279058 NM_178455.1 34 tGt/tAt 0 Missense_Mutation G 48 SPINT4 SNP 20 G A 43784521 43784521 Baylor TBC1D21 161514 hgsc.bcm.edu GRCh37 15 74178503 74178503 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000300504.2:c.664G>C p.Ala222Pro p.A222P ENST00000300504 NM_153356.1 222 Gct/Cct 0 Missense_Mutation G 46 TBC1D21 SNP 15 G C 71965556 71965556 Baylor TFRC 7037 hgsc.bcm.edu GRCh37 3 195782162 195782162 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000360110.4:c.1688A>G p.Tyr563Cys p.Y563C ENST00000360110 NM_001128148.1 563 tAt/tGt 0 Missense_Mutation T 49 TFRC SNP 3 T C 197266559 197266559 Baylor TIMELESS 8914 hgsc.bcm.edu GRCh37 12 56815921 56815921 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000553532.1:c.2493G>A p.Arg831= p.R831= ENST00000553532 831 cgG/cgA 0 Silent C 22 TIMELESS SNP 12 C T 55102188 55102188 Baylor TIPRL 261726 hgsc.bcm.edu GRCh37 1 168160704 168160704 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367833.2:c.482del p.His161LeufsTer8 p.H161Lfs*8 ENST00000367833 NM_152902.3 161 cAt/ct 0 Frame_Shift_Del A 8 TIPRL DEL 1 A - 166427328 166427328 Baylor TMEM39A 55254 hgsc.bcm.edu GRCh37 3 119151002 119151002 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000319172.5:c.1293C>T p.Val431= p.V431= ENST00000319172 NM_018266.2 431 gtC/gtT 0 Silent G 37 TMEM39A SNP 3 G A 120633692 120633692 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C T rs28934576 Unknown TCGA-04-1530-01 TCGA-04-1530-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269305.4:c.818G>A p.Arg273His p.R273H ENST00000269305 NM_001126112.2 273 cGt/cAt 0 Missense_Mutation C 19 TP53 SNP 17 C T 7517845 7517845 Baylor UQCRC1 7384 hgsc.bcm.edu GRCh37 3 48638211 48638211 + synonymous_variant Silent SNP G G C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000203407.5:c.1029C>G p.Thr343= p.T343= ENST00000203407 NM_003365.2 343 acC/acG 0 Silent G 35 UQCRC1 SNP 3 G C 48613215 48613215 Baylor WBP2NL 164684 hgsc.bcm.edu GRCh37 22 42423015 42423015 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328823.9:c.760G>A p.Ala254Thr p.A254T ENST00000328823 NM_152613.2 254 Gcc/Acc 0 Missense_Mutation G 34 WBP2NL SNP 22 G A 40752961 40752961 Baylor WDR75 84128 hgsc.bcm.edu GRCh37 2 190340030 190340030 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000314761.4:c.2380G>C p.Asp794His p.D794H ENST00000314761 NM_032168.1 794 Gat/Cat 0 Missense_Mutation G 41 WDR75 SNP 2 G C 190048275 190048275 Baylor XPNPEP3 63929 hgsc.bcm.edu GRCh37 22 41322426 41322426 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357137.4:c.1511G>C p.Ser504Thr p.S504T ENST00000357137 NM_022098.3 504 aGc/aCc 0 Missense_Mutation G 34 XPNPEP3 SNP 22 G C 39652372 39652372 Baylor ZMYND12 84217 hgsc.bcm.edu GRCh37 1 42921578 42921578 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372565.3:c.91del p.Cys31AlafsTer27 p.C31Afs*27 ENST00000372565 NM_032257.4 31 Tgc/gc 0 Frame_Shift_Del A 7 ZMYND12 DEL 1 A - 42694165 42694165 Baylor ZNF292 23036 hgsc.bcm.edu GRCh37 6 87968048 87968048 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1530-01 TCGA-04-1530-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369577.3:c.4701G>T p.Leu1567Phe p.L1567F ENST00000369577 NM_015021.1 1567 ttG/ttT 0 Missense_Mutation G 46 ZNF292 SNP 6 G T 88024767 88024767 Baylor ZBTB17 7709 broad.mit.edu GRCh37 1 16269158 16269158 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000375743.4:c.1904C>G p.Thr635Ser p.T635S ENST00000375743 NM_003443.2 635 aCc/aGc 0 Missense_Mutation G 44 ZBTB17 SNP 1 G C 16141745 16141745 Broad HTR6 3362 broad.mit.edu GRCh37 1 20005622 20005622 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000289753.1:c.1084C>T p.Pro362Ser p.P362S ENST00000289753 NM_000871.1 362 Ccc/Tcc 0 Missense_Mutation C 26 HTR6 SNP 1 C T 19878209 19878209 Broad USP48 84196 broad.mit.edu GRCh37 1 22016487 22016487 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000308271.9:c.2989G>T p.Glu997Ter p.E997* ENST00000308271 NM_032236.5 997 Gaa/Taa 0 Nonsense_Mutation C 29 USP48 SNP 1 C A 21889074 21889074 Broad CYP4A11 1579 broad.mit.edu GRCh37 1 47401260 47401260 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000310638.4:c.570C>T p.Ser190= p.S190= ENST00000310638 NM_000778.3 190 tcC/tcT 0 Silent G 35 CYP4A11 SNP 1 G A 47173847 47173847 Broad VAV3 10451 broad.mit.edu GRCh37 1 108507379 108507379 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000370056.4:c.113G>C p.Arg38Pro p.R38P ENST00000370056 NM_006113.4 38 cGc/cCc 0 Missense_Mutation C 27 VAV3 SNP 1 C G 108308902 108308902 Broad SHE 126669 broad.mit.edu GRCh37 1 154471696 154471696 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000304760.2:c.610T>C p.Tyr204His p.Y204H ENST00000304760 NM_001010846.2 204 Tat/Cat 0 Missense_Mutation A 15 SHE SNP 1 A G 152738320 152738320 Broad FLAD1 80308 broad.mit.edu GRCh37 1 154960906 154960906 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000292180.3:c.698C>A p.Thr233Lys p.T233K ENST00000292180 NM_025207.4 233 aCa/aAa 0 Missense_Mutation C 17 FLAD1 SNP 1 C A 153227530 153227530 Broad CD55 1604 broad.mit.edu GRCh37 1 207495738 207495738 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000314754.8:c.112C>A p.Leu38Ile p.L38I ENST00000314754 NM_001114752.1 38 Ctt/Att 0 Missense_Mutation C 24 CD55 SNP 1 C A 205562361 205562361 Broad OBSCN 84033 broad.mit.edu GRCh37 1 228402113 228402113 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000570156.2:c.1497G>T p.Thr499= p.T499= ENST00000570156 NM_001271223.2 499 acG/acT 0 Silent G 40 OBSCN SNP 1 G T 226468736 226468736 Broad CYP26C1 340665 broad.mit.edu GRCh37 10 94828165 94828166 + missense_variant Missense_Mutation DNP GC GC AT novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000285949.5:c.1280_1281delinsAT p.Gly427Asp p.G427D ENST00000285949 NM_183374.2 427 gGC/gAT 0 Missense_Mutation GC 42 CYP26C1 DNP 10 GC AT 94818156 94818155 Broad DCHS1 8642 broad.mit.edu GRCh37 11 6646656 6646656 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000299441.3:c.6919C>A p.Pro2307Thr p.P2307T ENST00000299441 NM_003737.2 2307 Ccc/Acc 0 Missense_Mutation G 44 DCHS1 SNP 11 G T 6603232 6603232 Broad METTL15 196074 broad.mit.edu GRCh37 11 28135029 28135029 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000407364.3:c.148G>T p.Asp50Tyr p.D50Y ENST00000407364 50 Gat/Tat 0 Missense_Mutation G 33 METT5D1 SNP 11 G T 28091605 28091605 Broad ARFGAP2 84364 broad.mit.edu GRCh37 11 47196804 47196804 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000524782.1:c.325C>T p.Arg109Ter p.R109* ENST00000524782 NM_032389.4 109 Cga/Tga 0 Nonsense_Mutation G 39 ARFGAP2 SNP 11 G A 47153380 47153380 Broad GDPD5 81544 broad.mit.edu GRCh37 11 75153484 75153484 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000336898.3:c.1091G>A p.Arg364Gln p.R364Q ENST00000336898 NM_030792.6 364 cGg/cAg 0 Missense_Mutation C 23 GDPD5 SNP 11 C T 74831132 74831132 Broad MYO7A 4647 broad.mit.edu GRCh37 11 76900433 76900433 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000409709.3:c.3548C>A p.Pro1183His p.P1183H ENST00000409709 NM_000260.3 1183 cCc/cAc 0 Missense_Mutation C 22 MYO7A SNP 11 C A 76578081 76578081 Broad FLI1 2313 broad.mit.edu GRCh37 11 128680705 128680705 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000527786.2:c.1181A>G p.His394Arg p.H394R ENST00000527786 NM_001271010.1 394 cAc/cGc 0 Missense_Mutation A 6 FLI1 SNP 11 A G 128185915 128185915 Broad NCAPD3 23310 broad.mit.edu GRCh37 11 134090513 134090513 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000534548.2:c.172T>A p.Tyr58Asn p.Y58N ENST00000534548 NM_015261.2 58 Tat/Aat 0 Missense_Mutation A 15 NCAPD3 SNP 11 A T 133595723 133595723 Broad CD9 928 broad.mit.edu GRCh37 12 6309730 6309730 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000382518.1:c.65G>T p.Trp22Leu p.W22L ENST00000382518 22 tGg/tTg 0 Missense_Mutation G 47 CD9 SNP 12 G T 6179991 6179991 Broad LPAR5 57121 broad.mit.edu GRCh37 12 6730295 6730295 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000329858.4:c.120C>A p.Asn40Lys p.N40K ENST00000329858 NM_020400.5 40 aaC/aaA 0 Missense_Mutation G 40 LPAR5 SNP 12 G T 6600556 6600556 Broad ESPL1 9700 broad.mit.edu GRCh37 12 53676072 53676072 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000257934.4:c.2644C>T p.Leu882= p.L882= ENST00000257934 NM_012291.4 882 Ctg/Ttg 0 Silent C 28 ESPL1 SNP 12 C T 51962339 51962339 Broad ITGA7 3679 broad.mit.edu GRCh37 12 56092571 56092571 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000553804.1:c.933C>T p.Pro311= p.P311= ENST00000553804 NM_001144996.1 311 ccC/ccT 0 Silent G 39 ITGA7 SNP 12 G A 54378838 54378838 Broad GNPTAB 79158 broad.mit.edu GRCh37 12 102155355 102155355 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000299314.7:c.2902G>A p.Glu968Lys p.E968K ENST00000299314 NM_024312.4 968 Gaa/Aaa 0 Missense_Mutation C 32 GNPTAB SNP 12 C T 100679486 100679486 Broad DRAM1 55332 broad.mit.edu GRCh37 12 102315002 102315002 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000258534.8:c.681C>A p.Thr227= p.T227= ENST00000258534 NM_018370.2 227 acC/acA 0 Silent C 22 DRAM1 SNP 12 C A 100839133 100839133 Broad ALG11 440138 broad.mit.edu GRCh37 13 52593264 52593264 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000521508.1:c.260G>C p.Arg87Thr p.R87T ENST00000521508 NM_001004127.2 87 aGa/aCa 0 Missense_Mutation G 33 ALG11 SNP 13 G C 51491265 51491265 Broad PCDH9 5101 broad.mit.edu GRCh37 13 67799663 67799663 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000544246.1:c.2910C>A p.Asp970Glu p.D970E ENST00000544246 NM_203487.2 970 gaC/gaA 0 Missense_Mutation G 48 PCDH9 SNP 13 G T 66697664 66697664 Broad RPGRIP1 57096 broad.mit.edu GRCh37 14 21819340 21819340 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000400017.2:c.3826A>G p.Ile1276Val p.I1276V ENST00000400017 NM_020366.3 1276 Att/Gtt 0 Missense_Mutation A 16 RPGRIP1 SNP 14 A G 20889180 20889180 Broad AKAP6 9472 broad.mit.edu GRCh37 14 33291441 33291441 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000280979.4:c.4422A>C p.Gln1474His p.Q1474H ENST00000280979 NM_004274.4 1474 caA/caC 0 Missense_Mutation A 3 AKAP6 SNP 14 A C 32361192 32361192 Broad SRP54 6729 broad.mit.edu GRCh37 14 35492183 35492183 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000556994.1:c.1224A>G p.Arg408= p.R408= ENST00000556994 408 agA/agG 0 Silent A 11 SRP54 SNP 14 A G 34561934 34561934 Broad FUT8 2530 broad.mit.edu GRCh37 14 66136172 66136172 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000360689.5:c.809C>T p.Ser270Phe p.S270F ENST00000360689 NM_178155.2 270 tCt/tTt 0 Missense_Mutation C 32 FUT8 SNP 14 C T 65205925 65205925 Broad TRIP11 9321 broad.mit.edu GRCh37 14 92471206 92471206 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000267622.4:c.3114G>T p.Lys1038Asn p.K1038N ENST00000267622 NM_004239.3 1038 aaG/aaT 0 Missense_Mutation C 32 TRIP11 SNP 14 C A 91540959 91540959 Broad ADSSL1 122622 broad.mit.edu GRCh37 14 105207464 105207464 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000332972.5:c.806A>G p.Glu269Gly p.E269G ENST00000332972 NM_199165.1 269 gAg/gGg 0 Missense_Mutation A 11 ADSSL1 SNP 14 A G 104278509 104278509 Broad PACS2 23241 broad.mit.edu GRCh37 14 105814830 105814830 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000458164.2:c.120G>T p.Arg40Ser p.R40S ENST00000458164 NM_001100913.2 40 agG/agT 0 Missense_Mutation G 44 PACS2 SNP 14 G T 104885875 104885875 Broad PLA2G4F 255189 broad.mit.edu GRCh37 15 42442884 42442884 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000382396.4:c.693C>G p.Pro231= p.P231= ENST00000382396 231 ccC/ccG 0 Silent G 47 PLA2G4F SNP 15 G C 40230176 40230176 Broad ADCY9 115 broad.mit.edu GRCh37 16 4164975 4164975 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000294016.3:c.469G>T p.Val157Leu p.V157L ENST00000294016 NM_001116.3 157 Gtg/Ttg 0 Missense_Mutation C 17 ADCY9 SNP 16 C A 4104976 4104976 Broad MYH13 8735 broad.mit.edu GRCh37 17 10223673 10223673 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000418404.3:c.3252G>T p.Leu1084Phe p.L1084F ENST00000418404 1084 ttG/ttT 0 Missense_Mutation C 29 MYH13 SNP 17 C A 10164398 10164398 Broad BLMH 642 broad.mit.edu GRCh37 17 28612458 28612458 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000261714.6:c.593G>C p.Ser198Thr p.S198T ENST00000261714 NM_000386.3 198 aGt/aCt 0 Missense_Mutation C 20 BLMH SNP 17 C G 25636584 25636584 Broad FNDC8 54752 broad.mit.edu GRCh37 17 33448915 33448915 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000158009.5:c.203A>T p.Asn68Ile p.N68I ENST00000158009 NM_017559.2 68 aAc/aTc 0 Missense_Mutation A 2 FNDC8 SNP 17 A T 30473028 30473028 Broad JMJD6 23210 broad.mit.edu GRCh37 17 74722536 74722536 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000445478.2:c.22C>A p.Arg8Ser p.R8S ENST00000445478 NM_001081461.1 8 Cgc/Agc 0 Missense_Mutation G 38 JMJD6 SNP 17 G T 72234131 72234131 Broad DNAH17 8632 broad.mit.edu GRCh37 17 76523069 76523069 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000389840.5:c.3517G>C p.Glu1173Gln p.E1173Q ENST00000389840 1173 Gag/Cag 0 Missense_Mutation C 30 DNAH17 SNP 17 C G 74034664 74034664 Broad USP36 57602 broad.mit.edu GRCh37 17 76799703 76799703 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000542802.3:c.2574C>T p.Ser858= p.S858= ENST00000542802 858 agC/agT 0 Silent G 38 USP36 SNP 17 G A 74311298 74311298 Broad PCYT2 5833 broad.mit.edu GRCh37 17 79864371 79864372 + missense_variant Missense_Mutation DNP GG GG TT novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000538721.2:c.781_782delinsAA p.Pro261Asn p.P261N ENST00000538721 NM_001184917.1 261 CCc/AAc 0 Missense_Mutation GG 43 PCYT2 DNP 17 GG TT 77457664 77457663 Broad FN3KRP 79672 broad.mit.edu GRCh37 17 80676927 80676927 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000269373.6:c.287T>A p.Leu96Gln p.L96Q ENST00000269373 NM_024619.3 96 cTg/cAg 0 Missense_Mutation T 55 FN3KRP SNP 17 T A 78270216 78270216 Broad CPLX4 339302 broad.mit.edu GRCh37 18 56980001 56980001 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000299721.3:c.171G>T p.Met57Ile p.M57I ENST00000299721 NM_181654.3 57 atG/atT 0 Missense_Mutation C 21 CPLX4 SNP 18 C A 55130981 55130981 Broad SALL3 27164 broad.mit.edu GRCh37 18 76753216 76753216 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000537592.2:c.1225C>A p.Pro409Thr p.P409T ENST00000537592 NM_171999.3 409 Ccc/Acc 0 Missense_Mutation C 26 SALL3 SNP 18 C A 74854204 74854204 Broad MAST1 22983 broad.mit.edu GRCh37 19 12949413 12949413 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000251472.4:c.27T>C p.Leu9= p.L9= ENST00000251472 NM_014975.2 9 ctT/ctC 0 Silent T 64 MAST1 SNP 19 T C 12810413 12810413 Broad CPAMD8 27151 broad.mit.edu GRCh37 19 17108035 17108035 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000443236.1:c.1122G>T p.Gly374= p.G374= ENST00000443236 NM_015692.2 374 ggG/ggT 0 Silent C 30 CPAMD8 SNP 19 C A 16969035 16969035 Broad KIAA1683 80726 broad.mit.edu GRCh37 19 18377290 18377290 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000392413.4:c.1060T>C p.Tyr354His p.Y354H ENST00000392413 NM_001145304.1 354 Tat/Cat 0 Missense_Mutation A 16 KIAA1683 SNP 19 A G 18238290 18238290 Broad KLK7 5650 broad.mit.edu GRCh37 19 51480944 51480944 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000391807.1:c.610G>A p.Asp204Asn p.D204N ENST00000391807 NM_139277.2 204 Gac/Aac 0 Missense_Mutation C 29 KLK7 SNP 19 C T 56172756 56172756 Broad PRKCG 5582 broad.mit.edu GRCh37 19 54394975 54394975 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000263431.3:c.577G>A p.Asp193Asn p.D193N ENST00000263431 NM_002739.3 193 Gat/Aat 0 Missense_Mutation G 45 PRKCG SNP 19 G A 59086787 59086787 Broad ZNF581 51545 broad.mit.edu GRCh37 19 56156074 56156074 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000587252.1:c.137C>A p.Ser46Tyr p.S46Y ENST00000587252 46 tCt/tAt 0 Missense_Mutation C 32 ZNF581 SNP 19 C A 60847886 60847886 Broad SCN9A 6335 broad.mit.edu GRCh37 2 167094661 167094661 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000409672.1:c.3711T>C p.Tyr1237= p.Y1237= ENST00000409672 NM_002977.3 1237 taT/taC 0 Silent A 8 SCN9A SNP 2 A G 166802907 166802907 Broad CHRNA1 1134 broad.mit.edu GRCh37 2 175618310 175618310 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000261007.5:c.774C>T p.Tyr258= p.Y258= ENST00000261007 NM_001039523.2 258 taC/taT 0 Silent G 36 CHRNA1 SNP 2 G A 175326556 175326556 Broad PMS1 5378 broad.mit.edu GRCh37 2 190728639 190728639 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000441310.2:c.2027C>G p.Pro676Arg p.P676R ENST00000441310 NM_000534.4 676 cCa/cGa 0 Missense_Mutation C 21 PMS1 SNP 2 C G 190436884 190436884 Broad INO80D 54891 broad.mit.edu GRCh37 2 206869178 206869178 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000403263.1:c.2998A>G p.Ile1000Val p.I1000V ENST00000403263 NM_017759.4 1000 Ata/Gta 0 Missense_Mutation T 49 INO80D SNP 2 T C 206577423 206577423 Broad INO80D 54891 broad.mit.edu GRCh37 2 206927647 206927647 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000403263.1:c.94G>A p.Gly32Ser p.G32S ENST00000403263 NM_017759.4 32 Ggc/Agc 0 Missense_Mutation C 23 INO80D SNP 2 C T 206635892 206635892 Broad TRIP12 9320 broad.mit.edu GRCh37 2 230683210 230683210 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000283943.5:c.1325T>A p.Leu442Gln p.L442Q ENST00000283943 NM_004238.1 442 cTa/cAa 0 Missense_Mutation A 15 TRIP12 SNP 2 A T 230391454 230391454 Broad TRAF3IP1 26146 broad.mit.edu GRCh37 2 239306171 239306171 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000373327.4:c.1761C>T p.Arg587= p.R587= ENST00000373327 NM_015650.3 587 cgC/cgT 0 Silent C 25 TRAF3IP1 SNP 2 C T 238970910 238970910 Broad SNED1 25992 broad.mit.edu GRCh37 2 241988519 241988519 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000310397.8:c.1585T>C p.Cys529Arg p.C529R ENST00000310397 NM_001080437.1 529 Tgc/Cgc 0 Missense_Mutation T 55 SNED1 SNP 2 T C 241637192 241637192 Broad MTERFD2 130916 broad.mit.edu GRCh37 2 242035472 242035472 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000391980.2:c.1087G>C p.Glu363Gln p.E363Q ENST00000391980 NM_182501.3 363 Gag/Cag 0 Missense_Mutation C 29 MTERFD2 SNP 2 C G 241684145 241684145 Broad CPXM1 56265 broad.mit.edu GRCh37 20 2778886 2778886 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000380605.2:c.502C>T p.Gln168Ter p.Q168* ENST00000380605 NM_001184699.1 168 Cag/Tag 0 Nonsense_Mutation G 46 CPXM1 SNP 20 G A 2726886 2726886 Broad TSHZ2 128553 broad.mit.edu GRCh37 20 51872506 51872506 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000371497.5:c.2509A>G p.Thr837Ala p.T837A ENST00000371497 NM_173485.5 837 Act/Gct 0 Missense_Mutation A 2 TSHZ2 SNP 20 A G 51305913 51305913 Broad TAF4 6874 broad.mit.edu GRCh37 20 60573230 60573230 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000252996.4:c.2932G>A p.Asp978Asn p.D978N ENST00000252996 NM_003185.3 978 Gat/Aat 0 Missense_Mutation C 32 TAF4 SNP 20 C T 60006625 60006625 Broad TRPM2 7226 broad.mit.edu GRCh37 21 45858975 45858975 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000397928.1:c.4193T>C p.Leu1398Pro p.L1398P ENST00000397928 NM_003307.3 1398 cTa/cCa 0 Missense_Mutation T 53 TRPM2 SNP 21 T C 44683403 44683403 Broad MKL1 57591 broad.mit.edu GRCh37 22 40814890 40814890 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000355630.3:c.1552C>G p.Leu518Val p.L518V ENST00000355630 NM_020831.3 518 Cta/Gta 0 Missense_Mutation G 34 MKL1 SNP 22 G C 39144836 39144836 Broad MOBP 4336 broad.mit.edu GRCh37 3 39543701 39543701 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000383754.3:c.141T>G p.Cys47Trp p.C47W ENST00000383754 NM_182935.3 47 tgT/tgG 0 Missense_Mutation T 57 MOBP SNP 3 T G 39518705 39518705 Broad COL6A6 131873 broad.mit.edu GRCh37 3 130282099 130282099 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000358511.6:c.252C>A p.Phe84Leu p.F84L ENST00000358511 NM_001102608.1 84 ttC/ttA 0 Missense_Mutation C 29 COL6A6 SNP 3 C A 131764789 131764789 Broad EPHB3 2049 broad.mit.edu GRCh37 3 184298234 184298234 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000330394.2:c.2217G>C p.Leu739Phe p.L739F ENST00000330394 NM_004443.3 739 ttG/ttC 0 Missense_Mutation G 46 EPHB3 SNP 3 G C 185780928 185780928 Broad LMLN 89782 broad.mit.edu GRCh37 3 197687130 197687130 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000420910.2:c.38G>T p.Trp13Leu p.W13L ENST00000420910 NM_001136049.2 13 tGg/tTg 0 Missense_Mutation G 47 LMLN SNP 3 G T 199171527 199171527 Broad ELMOD2 255520 broad.mit.edu GRCh37 4 141446607 141446607 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000323570.3:c.25T>A p.Phe9Ile p.F9I ENST00000323570 NM_153702.3 9 Ttc/Atc 0 Missense_Mutation T 56 ELMOD2 SNP 4 T A 141666057 141666057 Broad RXFP3 51289 broad.mit.edu GRCh37 5 33937399 33937399 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000330120.3:c.554C>T p.Ala185Val p.A185V ENST00000330120 NM_016568.3 185 gCc/gTc 0 Missense_Mutation C 26 RXFP3 SNP 5 C T 33973156 33973156 Broad ZNF608 57507 broad.mit.edu GRCh37 5 124080050 124080050 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000306315.5:c.633G>A p.Arg211= p.R211= ENST00000306315 NM_020747.2 211 agG/agA 0 Silent C 30 ZNF608 SNP 5 C T 124107949 124107949 Broad FAM65B 9750 broad.mit.edu GRCh37 6 24869353 24869353 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000259698.4:c.383A>T p.Tyr128Phe p.Y128F ENST00000259698 NM_014722.2 128 tAc/tTc 0 Missense_Mutation T 57 FAM65B SNP 6 T A 24977332 24977332 Broad MAS1L 116511 broad.mit.edu GRCh37 6 29454674 29454674 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000377127.3:c.1006G>A p.Ala336Thr p.A336T ENST00000377127 NM_052967.1 336 Gcg/Acg 0 Missense_Mutation C 26 MAS1L SNP 6 C T 29562653 29562653 Broad GNL1 2794 broad.mit.edu GRCh37 6 30514020 30514020 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000376621.3:c.1653C>T p.Asp551= p.D551= ENST00000376621 NM_005275.3 551 gaC/gaT 0 Silent G 40 GNL1 SNP 6 G A 30621999 30621999 Broad KLHL31 401265 broad.mit.edu GRCh37 6 53518999 53518999 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000370905.3:c.1072C>T p.Gln358Ter p.Q358* ENST00000370905 NM_001003760.4 358 Cag/Tag 0 Nonsense_Mutation G 45 KLHL31 SNP 6 G A 53626958 53626958 Broad ABCB5 340273 broad.mit.edu GRCh37 7 20685403 20685403 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000404938.2:c.703G>A p.Glu235Lys p.E235K ENST00000404938 NM_001163941.1 235 Gaa/Aaa 0 Missense_Mutation G 41 ABCB5 SNP 7 G A 20651928 20651928 Broad PIK3CG 5294 broad.mit.edu GRCh37 7 106513376 106513376 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000359195.3:c.2280T>A p.Ser760Arg p.S760R ENST00000359195 NM_002649.2 760 agT/agA 0 Missense_Mutation T 60 PIK3CG SNP 7 T A 106300612 106300612 Broad C7orf60 154743 broad.mit.edu GRCh37 7 112461967 112461967 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000297145.4:c.1050G>A p.Glu350= p.E350= ENST00000297145 NM_152556.2 350 gaG/gaA 0 Silent C 24 C7orf60 SNP 7 C T 112249203 112249203 Broad ARF5 381 broad.mit.edu GRCh37 7 127230153 127230153 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000000233.5:c.292G>T p.Glu98Ter p.E98* ENST00000000233 NM_001662.3 98 Gag/Tag 0 Nonsense_Mutation G 41 ARF5 SNP 7 G T 127017389 127017389 Broad OPN1SW 611 broad.mit.edu GRCh37 7 128415779 128415779 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000249389.2:c.66T>G p.Asp22Glu p.D22E ENST00000249389 NM_001708.2 22 gaT/gaG 0 Missense_Mutation A 8 OPN1SW SNP 7 A C 128203015 128203015 Broad SLC18A1 6570 broad.mit.edu GRCh37 8 20038460 20038460 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000440926.1:c.16C>G p.Leu6Val p.L6V ENST00000440926 NM_001135691.2 6 Ctg/Gtg 0 Missense_Mutation G 33 SLC18A1 SNP 8 G C 20082740 20082740 Broad TMEM70 54968 broad.mit.edu GRCh37 8 74893720 74893720 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000312184.5:c.647C>T p.Thr216Ile p.T216I ENST00000312184 NM_001040613.2 216 aCa/aTa 0 Missense_Mutation C 17 TMEM70 SNP 8 C T 75056274 75056274 Broad COL22A1 169044 broad.mit.edu GRCh37 8 139606337 139606337 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000303045.6:c.4538G>A p.Arg1513Gln p.R1513Q ENST00000303045 NM_152888.1 1513 cGg/cAg 0 Missense_Mutation C 23 COL22A1 SNP 8 C T 139675519 139675519 Broad AK3 50808 broad.mit.edu GRCh37 9 4722564 4722564 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000381809.3:c.213G>C p.Met71Ile p.M71I ENST00000381809 NM_016282.3 71 atG/atC 0 Missense_Mutation C 29 AK3 SNP 9 C G 4712564 4712564 Broad FOXD4L3 286380 broad.mit.edu GRCh37 9 70918851 70918851 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000342833.2:c.984A>T p.Arg328Ser p.R328S ENST00000342833 NM_199135.4 328 agA/agT 0 Missense_Mutation A 11 FOXD4L3 SNP 9 A T 70108671 70108671 Broad PRUNE2 158471 broad.mit.edu GRCh37 9 79324786 79324786 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown x x x ENST00000376718.3:c.2404G>T p.Ala802Ser p.A802S ENST00000376718 NM_015225.2 802 Gca/Tca 0 Missense_Mutation C 25 PRUNE2 SNP 9 C A 78514606 78514606 Broad MYOM3 127294 broad.mit.edu GRCh37 1 24435077 24435078 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-24-2298-01 TCGA-24-2298-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000374434.3:c.49dup p.Gln17ProfsTer43 p.Q17Pfs*43 ENST00000374434 NM_152372.3 17 cag/cCag 0 Frame_Shift_Ins - 55 MYOM3 INS 1 G - 24307665 24307664 Broad DIP2C 22982 genome.wustl.edu GRCh37 10 468810 468810 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000280886.6:c.558C>T p.Ser186= p.S186= ENST00000280886 NM_014974.2 186 agC/agT 0 Silent G 38 DIP2C SNP 10 G A 458810 458810 WashU FAM86A 196483 genome.wustl.edu GRCh37 16 5140488 5140488 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000427587.4:c.421G>A p.Ala141Thr p.A141T ENST00000427587 NM_201400.2 141 Gcc/Acc 0 Missense_Mutation C 27 FAM86A SNP 16 C T 5080489 5080489 WashU ASGR2 433 genome.wustl.edu GRCh37 17 7005424 7005424 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380952.2:c.755A>G p.Tyr252Cys p.Y252C ENST00000380952 NM_080912.3 252 tAt/tGt 0 Missense_Mutation T 49 ASGR2 SNP 17 T C 6946148 6946148 WashU KLRC2 3822 genome.wustl.edu GRCh37 12 10587934 10587934 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000381902.2:c.263T>C p.Leu88Ser p.L88S ENST00000381902 NM_002260.3 88 tTa/tCa 0 Missense_Mutation A 13 KLRC2 SNP 12 A G 10479201 10479201 WashU PDE3A 5139 genome.wustl.edu GRCh37 12 20803391 20803391 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359062.3:c.2782G>T p.Val928Phe p.V928F ENST00000359062 NM_001244683.1 928 Gtt/Ttt 0 Missense_Mutation G 48 PDE3A SNP 12 G T 20694658 20694658 WashU CABIN1 23523 genome.wustl.edu GRCh37 22 24530285 24530285 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398319.2:c.4649G>A p.Arg1550His p.R1550H ENST00000398319 NM_001199281.1 1550 cGc/cAc 0 Missense_Mutation G 38 CABIN1 SNP 22 G A 22860285 22860285 WashU HIST1H2BC 8347 genome.wustl.edu GRCh37 6 26124115 26124115 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314332.5:c.18G>T p.Lys6Asn p.K6N ENST00000314332 6 aaG/aaT 0 Missense_Mutation C 20 HIST1H2BC SNP 6 C A 26232094 26232094 WashU PRSS16 10279 genome.wustl.edu GRCh37 6 27216899 27216899 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000230582.3:c.358C>T p.Pro120Ser p.P120S ENST00000230582 NM_005865.3 120 Cca/Tca 0 Missense_Mutation C 22 PRSS16 SNP 6 C T 27324878 27324878 WashU KRT18P36 genome.wustl.edu GRCh37 9 30800374 30800374 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000411618.1:n.371A>G *124* ENST00000411618 0 Splice_Site_SNP T 53 ENSG00000215208 SNP 9 T C 30790374 30790374 WashU BPIFB3 359710 genome.wustl.edu GRCh37 20 31659911 31659911 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375494.3:c.1262G>A p.Gly421Glu p.G421E ENST00000375494 NM_182658.1 421 gGa/gAa 0 Missense_Mutation G 41 C20orf185 SNP 20 G A 31123572 31123572 WashU NEUROD6 63974 genome.wustl.edu GRCh37 7 31377934 31377934 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297142.3:c.949G>A p.Asp317Asn p.D317N ENST00000297142 NM_022728.3 317 Gac/Aac 0 Missense_Mutation C 31 NEUROD6 SNP 7 C T 31344459 31344459 WashU GBA2 57704 genome.wustl.edu GRCh37 9 35740010 35740010 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378103.3:c.1394C>T p.Pro465Leu p.P465L ENST00000378103 NM_020944.2 465 cCg/cTg 0 Missense_Mutation G 39 GBA2 SNP 9 G A 35730010 35730010 WashU THRAP3 9967 genome.wustl.edu GRCh37 1 36754874 36754874 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354618.5:c.1254T>G p.Phe418Leu p.F418L ENST00000354618 NM_005119.3 418 ttT/ttG 0 Missense_Mutation T 63 THRAP3 SNP 1 T G 36527461 36527461 WashU FREM2 341640 genome.wustl.edu GRCh37 13 39430279 39430279 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000280481.7:c.6942A>T p.Glu2314Asp p.E2314D ENST00000280481 NM_207361.4 2314 gaA/gaT 0 Missense_Mutation A 3 FREM2 SNP 13 A T 38328279 38328279 WashU DSCR4 10281 genome.wustl.edu GRCh37 21 39426984 39426984 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328264.3:c.322A>G p.Arg108Gly p.R108G ENST00000328264 NM_005867.2 108 Agg/Ggg 0 Missense_Mutation T 56 DSCR4 SNP 21 T C 38348854 38348854 WashU CCNYL2 414194 genome.wustl.edu GRCh37 10 42965595 42965595 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000483242.3:n.558T>C *186* ENST00000483242 0 Missense_Mutation A 10 CCNYL2 SNP 10 A G 42285601 42285601 WashU ARHGEF1 9138 genome.wustl.edu GRCh37 19 42398330 42398330 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337665.4:c.740G>A p.Arg247Gln p.R247Q ENST00000337665 NM_199002.1 247 cGg/cAg 0 Missense_Mutation G 39 ARHGEF1 SNP 19 G A 47090170 47090170 WashU PPP1R21 129285 genome.wustl.edu GRCh37 2 48687278 48687278 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294952.8:c.585T>G p.Leu195= p.L195= ENST00000294952 NM_001135629.2 195 ctT/ctG 0 Silent T 62 KLRAQ1 SNP 2 T G 48540782 48540782 WashU AMT 275 genome.wustl.edu GRCh37 3 49456462 49456462 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000273588.3:c.819T>C p.Tyr273= p.Y273= ENST00000273588 NM_000481.3 273 taT/taC 0 Silent A 8 AMT SNP 3 A G 49431466 49431466 WashU KRT72 140807 genome.wustl.edu GRCh37 12 52981485 52981485 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000293745.2:c.1240G>A p.Val414Met p.V414M ENST00000293745 NM_080747.2 414 Gtg/Atg 0 Missense_Mutation C 19 KRT72 SNP 12 C T 51267752 51267752 WashU EHD2 30846 genome.wustl.edu GRCh37 19 48244158 48244158 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263277.3:c.1101C>G p.Asp367Glu p.D367E ENST00000263277 NM_014601.3 367 gaC/gaG 0 Missense_Mutation C 20 EHD2 SNP 19 C G 52935970 52935970 WashU GLI1 2735 genome.wustl.edu GRCh37 12 57864433 57864433 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000228682.2:c.1910G>A p.Arg637Gln p.R637Q ENST00000228682 NM_005269.2 637 cGg/cAg 0 Missense_Mutation G 39 GLI1 SNP 12 G A 56150700 56150700 WashU USP1 7398 genome.wustl.edu GRCh37 1 62916019 62916019 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339950.4:c.1725C>G p.Ser575Arg p.S575R ENST00000339950 NM_003368.4 575 agC/agG 0 Missense_Mutation C 28 USP1 SNP 1 C G 62688607 62688607 WashU FRMD4B 23150 genome.wustl.edu GRCh37 3 69230516 69230516 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398540.3:c.2385G>A p.Lys795= p.K795= ENST00000398540 NM_015123.1 795 aaG/aaA 0 Silent C 32 FRMD4B SNP 3 C T 69313206 69313206 WashU NFATC1 4772 genome.wustl.edu GRCh37 18 77193581 77193581 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329101.4:c.1190C>T p.Pro397Leu p.P397L ENST00000329101 NM_172387.2 397 cCg/cTg 0 Missense_Mutation C 23 NFATC1 SNP 18 C T 75294569 75294569 WashU GPR98 84059 genome.wustl.edu GRCh37 5 89938502 89938502 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405460.2:c.2290C>T p.Leu764= p.L764= ENST00000405460 NM_032119.3 764 Cta/Tta 0 Silent C 24 GPR98 SNP 5 C T 89974258 89974258 WashU MRPL42 28977 genome.wustl.edu GRCh37 12 93881354 93881354 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000549982.1:c.301G>T p.Glu101Ter p.E101* ENST00000549982 NM_172177.3 101 Gaa/Taa 0 Nonsense_Mutation G 45 MRPL42 SNP 12 G T 92405485 92405485 WashU TDRD7 23424 genome.wustl.edu GRCh37 9 100237743 100237743 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355295.4:c.2158C>T p.Arg720Ter p.R720* ENST00000355295 NM_014290.2 720 Cga/Tga 0 Nonsense_Mutation C 19 TDRD7 SNP 9 C T 99277564 99277564 WashU GAL3ST4 79690 genome.wustl.edu GRCh37 7 99757778 99757778 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360039.4:c.1234G>T p.Glu412Ter p.E412* ENST00000360039 NM_024637.4 412 Gag/Tag 0 Nonsense_Mutation C 29 GAL3ST4 SNP 7 C A 99595714 99595714 WashU CBLB 868 genome.wustl.edu GRCh37 3 105438963 105438963 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264122.4:c.1335G>A p.Pro445= p.P445= ENST00000264122 NM_170662.3 445 ccG/ccA 0 Silent C 31 CBLB SNP 3 C T 106921653 106921653 WashU ARHGEF7 8874 genome.wustl.edu GRCh37 13 111938519 111938519 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375741.2:c.2039T>G p.Met680Arg p.M680R ENST00000375741 NM_145735.2 680 aTg/aGg 0 Missense_Mutation T 51 ARHGEF7 SNP 13 T G 110736520 110736520 WashU TBX5 6910 genome.wustl.edu GRCh37 12 114793647 114793647 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310346.4:c.1247A>T p.Gln416Leu p.Q416L ENST00000310346 NM_000192.3 416 cAg/cTg 0 Missense_Mutation T 55 TBX5 SNP 12 T A 113278030 113278030 WashU CNTNAP5 129684 genome.wustl.edu GRCh37 2 124999868 124999868 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000431078.1:c.279G>A p.Thr93= p.T93= ENST00000431078 NM_130773.3 93 acG/acA 0 Silent G 38 CNTNAP5 SNP 2 G A 124716338 124716338 WashU UROC1 131669 genome.wustl.edu GRCh37 3 126220718 126220718 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000383579.3:c.976T>C p.Ser326Pro p.S326P ENST00000383579 NM_001165974.1 326 Tcc/Ccc 0 Missense_Mutation A 9 UROC1 SNP 3 A G 127703408 127703408 WashU L3MBTL3 84456 genome.wustl.edu GRCh37 6 130413937 130413937 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000529410.1:c.1566A>G p.Ala522= p.A522= ENST00000529410 522 gcA/gcG 0 Silent A 7 L3MBTL3 SNP 6 A G 130455630 130455630 WashU TUBBP5 genome.wustl.edu GRCh37 9 141071195 141071195 + non_coding_transcript_exon_variant,non_coding_transcript_variant RNA SNP C C T novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C C T C T Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000508529.2:n.813C>T *271* ENST00000508529 0 Missense_Mutation C 22 ENSG00000159247 SNP 9 C T 140191016 140191016 WashU OR2F2 135948 genome.wustl.edu GRCh37 7 143632549 143632549 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000408955.2:c.224C>G p.Thr75Arg p.T75R ENST00000408955 NM_001004685.1 75 aCa/aGa 0 Missense_Mutation C 17 OR2F2 SNP 7 C G 143263482 143263482 WashU TCHH 7062 genome.wustl.edu GRCh37 1 152080310 152080310 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368804.1:c.5383A>G p.Arg1795Gly p.R1795G ENST00000368804 NM_007113.3 1795 Aga/Gga 0 Missense_Mutation T 55 TCHH SNP 1 T C 150346934 150346934 WashU MAP3K4 4216 genome.wustl.edu GRCh37 6 161513105 161513105 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392142.4:c.3199A>G p.Ile1067Val p.I1067V ENST00000392142 NM_005922.2 1067 Ata/Gta 0 Missense_Mutation A 16 MAP3K4 SNP 6 A G 161433095 161433095 WashU SI 6476 genome.wustl.edu GRCh37 3 164737512 164737512 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000264382.3:c.3301C>A p.Gln1101Lys p.Q1101K ENST00000264382 NM_001041.3 1101 Caa/Aaa 0 Missense_Mutation G 45 SI SNP 3 G T 166220206 166220206 WashU TNR 7143 genome.wustl.edu GRCh37 1 175293628 175293628 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367674.2:c.3821G>T p.Arg1274Leu p.R1274L ENST00000367674 1274 cGc/cTc 0 Missense_Mutation C 27 TNR SNP 1 C A 173560251 173560251 WashU CEP350 9857 genome.wustl.edu GRCh37 1 180023593 180023593 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000367607.3:c.5218C>T p.Arg1740Trp p.R1740W ENST00000367607 NM_014810.4 1740 Cgg/Tgg 0 Missense_Mutation C 23 CEP350 SNP 1 C T 178290216 178290216 WashU TRIML1 339976 genome.wustl.edu GRCh37 4 189068452 189068452 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000332517.3:c.1333T>A p.Phe445Ile p.F445I ENST00000332517 NM_178556.3 445 Ttt/Att 0 Missense_Mutation T 56 TRIML1 SNP 4 T A 189305446 189305446 WashU GRHL2 79977 genome.wustl.edu GRCh37 8 102570843 102570844 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000251808.3:c.481_482insT p.Glu161ValfsTer28 p.E161Vfs*28 ENST00000251808 NM_024915.3 161 gaa/gTaa 0 Frame_Shift_Ins - 45 GRHL2 INS 8 - T 102640020 102640019 WashU MKNK1 8569 genome.wustl.edu GRCh37 1 47051647 47051647 + intron_variant Intron SNP C C G novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 C C G C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000371946.4:c.35-2646G>C *12* ENST00000371946 NM_003684.5 0 Splice_Site_SNP C 20 MKNK1 SNP 1 G C 46824234 46824234 WashU OR5T2 219464 genome.wustl.edu GRCh37 11 56000395 56000395 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313264.4:c.267T>C p.Ile89= p.I89= ENST00000313264 NM_001004746.1 89 atT/atC 0 Silent A 13 OR5T2 SNP 11 A G 55756971 55756971 WashU GPR142 350383 genome.wustl.edu GRCh37 17 72368575 72368575 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01 TCGA-13-0723-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335666.4:c.1225G>A p.Ala409Thr p.A409T ENST00000335666 NM_181790.1 409 Gcc/Acc 0 Missense_Mutation G 34 GPR142 SNP 17 G A 69880170 69880170 WashU ATP6V1F 9296 genome.wustl.edu GRCh37 7 128505510 128505510 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-13-0723-01 TCGA-13-0723-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000492758.1:c.322G>A p.Ala108Thr p.A108T ENST00000492758 NM_001198909.1 108 Gcc/Acc 0 Missense_Mutation G 38 ATP6V1F SNP 7 G A 128292746 128292746 WashU RAP1GAP 5909 broad.mit.edu GRCh37 1 21943859 21943859 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000290101.4:c.423C>A p.Thr141= p.T141= ENST00000290101 NM_001145658.1 141 acC/acA 0 Silent G 47 RAP1GAP SNP 1 G T 21816446 21816446 Broad IQCC 55721 broad.mit.edu GRCh37 1 32672631 32672631 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000537469.1:c.708C>T p.Ser236= p.S236= ENST00000537469 NM_001160042.1 236 agC/agT 0 Silent C 26 IQCC SNP 1 C T 32445218 32445218 Broad GLB1L2 89944 broad.mit.edu GRCh37 11 134212707 134212707 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000535456.2:c.146C>T p.Ala49Val p.A49V ENST00000535456 NM_138342.3 49 gCc/gTc 0 Missense_Mutation C 26 GLB1L2 SNP 11 C T 133717917 133717917 Broad STAB2 55576 broad.mit.edu GRCh37 12 104118857 104118857 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000388887.2:c.4788C>T p.Arg1596= p.R1596= ENST00000388887 NM_017564.9 1596 cgC/cgT 0 Silent C 27 STAB2 SNP 12 C T 102642987 102642987 Broad SRRM4 84530 broad.mit.edu GRCh37 12 119568488 119568488 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000267260.4:c.620G>A p.Arg207His p.R207H ENST00000267260 NM_194286.3 207 cGc/cAc 0 Missense_Mutation G 38 SRRM4 SNP 12 G A 118052871 118052871 Broad AP5M1 55745 broad.mit.edu GRCh37 14 57752967 57752967 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000261558.3:c.1320A>G p.Thr440= p.T440= ENST00000261558 NM_018229.3 440 acA/acG 0 Silent A 6 MUDENG SNP 14 A G 56822720 56822720 Broad DYNC1H1 1778 broad.mit.edu GRCh37 14 102492939 102492939 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000360184.4:c.8666T>A p.Leu2889Ter p.L2889* ENST00000360184 NM_001376.4 2889 tTa/tAa 0 Nonsense_Mutation T 61 DYNC1H1 SNP 14 T A 101562692 101562692 Broad ACAN 176 broad.mit.edu GRCh37 15 89417204 89417204 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000439576.2:c.7465C>T p.Arg2489Trp p.R2489W ENST00000439576 NM_013227.3 2489 Cgg/Tgg 0 Missense_Mutation C 23 ACAN SNP 15 C T 87218208 87218208 Broad WDR90 197335 broad.mit.edu GRCh37 16 705065 705065 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000293879.4:c.1474G>A p.Gly492Ser p.G492S ENST00000293879 492 Ggt/Agt 0 Missense_Mutation G 39 WDR90 SNP 16 G A 645066 645066 Broad PKMYT1 9088 broad.mit.edu GRCh37 16 3024084 3024084 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000262300.8:c.1227G>A p.Pro409= p.P409= ENST00000262300 NM_001258450.1 409 ccG/ccA 0 Silent C 27 PKMYT1 SNP 16 C T 2964085 2964085 Broad WIPF2 147179 broad.mit.edu GRCh37 17 38416786 38416786 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000323571.4:c.64-1G>A p.X22_splice ENST00000323571 NM_133264.4 0 Splice_Site_SNP G 35 WIPF2 SNP 17 G A 35670312 35670312 Broad OR7C1 26664 broad.mit.edu GRCh37 19 14910869 14910869 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000248073.2:c.80T>C p.Leu27Pro p.L27P ENST00000248073 NM_198944.1 27 cTc/cCc 0 Missense_Mutation A 11 OR7C1 SNP 19 A G 14771869 14771869 Broad AMER3 205147 broad.mit.edu GRCh37 2 131520567 131520567 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000423981.1:c.922A>T p.Arg308Trp p.R308W ENST00000423981 NM_001105194.1 308 Agg/Tgg 0 Missense_Mutation A 7 FAM123C SNP 2 A T 131237037 131237037 Broad C20orf197 284756 broad.mit.edu GRCh37 20 58645767 58645767 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000313426.1:c.185T>C p.Leu62Pro p.L62P ENST00000313426 NM_173644.1 62 cTg/cCg 0 Missense_Mutation T 55 C20orf197 SNP 20 T C 58079162 58079162 Broad WBP2NL 164684 broad.mit.edu GRCh37 22 42394838 42394838 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000328823.9:c.16A>T p.Ser6Cys p.S6C ENST00000328823 NM_152613.2 6 Agc/Tgc 0 Missense_Mutation A 11 WBP2NL SNP 22 A T 40724784 40724784 Broad SEMA3G 56920 broad.mit.edu GRCh37 3 52475405 52475405 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000231721.2:c.688G>A p.Ala230Thr p.A230T ENST00000231721 NM_020163.1 230 Gcc/Acc 0 Missense_Mutation C 27 SEMA3G SNP 3 C T 52450445 52450445 Broad ST3GAL6 10402 broad.mit.edu GRCh37 3 98510736 98510736 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000394162.1:c.808A>G p.Ile270Val p.I270V ENST00000394162 NM_006100.3 270 Ata/Gta 0 Missense_Mutation A 8 ST3GAL6 SNP 3 A G 99993426 99993426 Broad CHRD 8646 broad.mit.edu GRCh37 3 184104504 184104504 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000204604.1:c.2157G>A p.Ala719= p.A719= ENST00000204604 NM_003741.2 719 gcG/gcA 0 Silent G 38 CHRD SNP 3 G A 185587198 185587198 Broad MED10 84246 broad.mit.edu GRCh37 5 6372624 6372624 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000255764.3:c.400C>T p.Pro134Ser p.P134S ENST00000255764 NM_032286.2 134 Cct/Tct 0 Missense_Mutation G 42 MED10 SNP 5 G A 6425624 6425624 Broad MAST4 375449 broad.mit.edu GRCh37 5 66350300 66350300 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000403625.2:c.743C>T p.Ser248Leu p.S248L ENST00000403625 NM_001164664.1 248 tCa/tTa 0 Missense_Mutation C 29 MAST4 SNP 5 C T 66386056 66386056 Broad KCNN2 3781 broad.mit.edu GRCh37 5 113740528 113740528 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000512097.3:c.976G>A p.Ala326Thr p.A326T ENST00000512097 326 Gca/Aca 0 Missense_Mutation G 38 KCNN2 SNP 5 G A 113768427 113768427 Broad UNC5A 90249 broad.mit.edu GRCh37 5 176301409 176301409 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000329542.4:c.1220G>A p.Arg407His p.R407H ENST00000329542 NM_133369.2 407 cGc/cAc 0 Missense_Mutation G 38 UNC5A SNP 5 G A 176234015 176234015 Broad FOXC1 2296 broad.mit.edu GRCh37 6 1611121 1611121 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000380874.2:c.441C>T p.Gly147= p.G147= ENST00000380874 NM_001453.2 147 ggC/ggT 0 Silent C 25 FOXC1 SNP 6 C T 1556120 1556120 Broad HIST1H2BK 85236 broad.mit.edu GRCh37 6 27114488 27114488 + synonymous_variant Silent SNP G G A rs12207760 Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000396891.4:c.90C>T p.Arg30= p.R30= ENST00000396891 NM_080593.2 30 cgC/cgT 0 Silent G 46 HIST1H2BK SNP 6 G A 27222467 27222467 Broad MAS1L 116511 broad.mit.edu GRCh37 6 29454807 29454807 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000377127.3:c.873G>A p.Met291Ile p.M291I ENST00000377127 NM_052967.1 291 atG/atA 0 Missense_Mutation C 17 MAS1L SNP 6 C T 29562786 29562786 Broad DNAH8 1769 broad.mit.edu GRCh37 6 38841076 38841076 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000359357.3:c.6893T>C p.Phe2298Ser p.F2298S ENST00000359357 2298 tTt/tCt 0 Missense_Mutation T 64 DNAH8 SNP 6 T C 38949054 38949054 Broad PAPOLB 56903 broad.mit.edu GRCh37 7 4901292 4901292 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000404991.1:c.147C>T p.Phe49= p.F49= ENST00000404991 NM_020144.4 49 ttC/ttT 0 Silent G 37 PAPOLB SNP 7 G A 4867818 4867818 Broad PRKAR2B 5577 broad.mit.edu GRCh37 7 106786832 106786832 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265717.4:c.667G>A p.Glu223Lys p.E223K ENST00000265717 NM_002736.2 223 Gaa/Aaa 0 Missense_Mutation G 37 PRKAR2B SNP 7 G A 106574068 106574068 Broad ING3 54556 broad.mit.edu GRCh37 7 120609159 120609159 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000315870.5:c.809G>C p.Arg270Thr p.R270T ENST00000315870 NM_019071.2 270 aGg/aCg 0 Missense_Mutation G 35 ING3 SNP 7 G C 120396395 120396395 Broad FLNC 2318 broad.mit.edu GRCh37 7 128484983 128484983 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000325888.8:c.3464C>T p.Pro1155Leu p.P1155L ENST00000325888 NM_001458.4 1155 cCg/cTg 0 Missense_Mutation C 23 FLNC SNP 7 C T 128272219 128272219 Broad ZFHX4 79776 broad.mit.edu GRCh37 8 77766282 77766282 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000521891.2:c.7125C>T p.Asn2375= p.N2375= ENST00000521891 NM_024721.4 2375 aaC/aaT 0 Silent C 19 ZFHX4 SNP 8 C T 77928837 77928837 Broad DCAF4L2 138009 broad.mit.edu GRCh37 8 88885752 88885752 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000319675.3:c.448G>C p.Ala150Pro p.A150P ENST00000319675 NM_152418.3 150 Gca/Cca 0 Missense_Mutation C 25 DCAF4L2 SNP 8 C G 88954868 88954868 Broad CBWD1 55871 broad.mit.edu GRCh37 9 178930 178930 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000356521.4:c.40C>G p.Pro14Ala p.P14A ENST00000356521 NM_018491.3 14 Cct/Gct 0 Missense_Mutation G 41 CBWD1 SNP 9 G C 168930 168930 Broad ADAMTSL1 92949 broad.mit.edu GRCh37 9 18574169 18574169 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000380548.4:c.379G>A p.Gly127Arg p.G127R ENST00000380548 NM_001040272.5 127 Gga/Aga 0 Missense_Mutation G 35 ADAMTSL1 SNP 9 G A 18564169 18564169 Broad SLC44A1 23446 broad.mit.edu GRCh37 9 108110708 108110708 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown x x x ENST00000374720.3:c.476G>T p.Cys159Phe p.C159F ENST00000374720 NM_080546.3 159 tGc/tTc 0 Missense_Mutation G 46 SLC44A1 SNP 9 G T 107150529 107150529 Broad PLP1 5354 broad.mit.edu GRCh37 X 103041611 103041611 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000418604.1:c.409C>T p.Arg137Trp p.R137W ENST00000418604 NM_001128834.1 137 Cgg/Tgg 0 Missense_Mutation C 27 PLP1 SNP 23 C T 102928267 102928267 Broad TP53 7157 broad.mit.edu GRCh37 17 7577529 7577529 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.752T>G p.Ile251Ser p.I251S ENST00000269305 NM_001126112.2 251 aTc/aGc 0 Missense_Mutation A 12 TP53 SNP 17 A C 7518254 7518254 Broad ITPKB 3707 broad.mit.edu GRCh37 1 226923331 226923333 + inframe_deletion In_Frame_Del DEL GAG GAG - novel Unknown TCGA-13-1504-01 TCGA-13-1504-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000429204.1:c.1827_1829del p.Ser611del p.S611del ENST00000429204 NM_002221.3 609 tcCTCa/tca 0 In_Frame_Del GAG 45 ITPKB DEL 1 - GAG 224989956 224989954 Broad NPPA 4878 broad.mit.edu GRCh37 1 11906071 11906071 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000376480.3:c.451T>C p.Tyr151His p.Y151H ENST00000376480 NM_006172.3 151 Tac/Cac 0 Missense_Mutation A 14 NPPA SNP 1 A G 11828658 11828658 Broad PADI3 51702 broad.mit.edu GRCh37 1 17594343 17594343 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000375460.3:c.538A>G p.Met180Val p.M180V ENST00000375460 NM_016233.2 180 Atg/Gtg 0 Missense_Mutation A 8 PADI3 SNP 1 A G 17466930 17466930 Broad HIST2H2AC 8338 broad.mit.edu GRCh37 1 149858597 149858597 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000331380.2:c.73C>T p.Gln25Ter p.Q25* ENST00000331380 NM_003517.2 25 Cag/Tag 0 Nonsense_Mutation C 21 HIST2H2AC SNP 1 C T 148125221 148125221 Broad PGLYRP4 57115 broad.mit.edu GRCh37 1 153312924 153312924 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000359650.5:c.757C>T p.Arg253Cys p.R253C ENST00000359650 NM_020393.2 253 Cgc/Tgc 0 Missense_Mutation G 39 PGLYRP4 SNP 1 G A 151579548 151579548 Broad RASAL2 9462 broad.mit.edu GRCh37 1 178269208 178269208 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000367649.3:c.412G>T p.Glu138Ter p.E138* ENST00000367649 138 Gag/Tag 0 Nonsense_Mutation G 37 RASAL2 SNP 1 G T 176535831 176535831 Broad KCNT2 343450 broad.mit.edu GRCh37 1 196250056 196250056 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000294725.9:c.2844T>G p.Cys948Trp p.C948W ENST00000294725 948 tgT/tgG 0 Missense_Mutation A 2 KCNT2 SNP 1 A C 194516679 194516679 Broad CR2 1380 broad.mit.edu GRCh37 1 207640107 207640107 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000367057.3:c.295G>T p.Gly99Ter p.G99* ENST00000367057 NM_001006658.2 99 Gga/Tga 0 Nonsense_Mutation G 35 CR2 SNP 1 G T 205706730 205706730 Broad RYR2 6262 broad.mit.edu GRCh37 1 237660038 237660038 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000366574.2:c.2189T>C p.Leu730Pro p.L730P ENST00000366574 NM_001035.2 730 cTt/cCt 0 Missense_Mutation T 56 RYR2 SNP 1 T C 235726661 235726661 Broad VN1R5 317705 broad.mit.edu GRCh37 1 247420019 247420019 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000472952.2:n.646G>C *216* ENST00000472952 0 Missense_Mutation G 48 VN1R5 SNP 1 G C 245486642 245486642 Broad LIPK 643414 broad.mit.edu GRCh37 10 90512322 90512322 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000404190.1:c.1009A>G p.Ile337Val p.I337V ENST00000404190 NM_001080518.1 337 Ata/Gta 0 Missense_Mutation A 4 LIPK SNP 10 A G 90502302 90502302 Broad CYP2C19 1557 broad.mit.edu GRCh37 10 96602729 96602729 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000371321.3:c.1097T>A p.Leu366Gln p.L366Q ENST00000371321 NM_000769.1 366 cTg/cAg 0 Missense_Mutation T 55 CYP2C19 SNP 10 T A 96592719 96592719 Broad RAPSN 5913 broad.mit.edu GRCh37 11 47463166 47463166 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000298854.2:c.909C>G p.Asp303Glu p.D303E ENST00000298854 NM_005055.4 303 gaC/gaG 0 Missense_Mutation G 48 RAPSN SNP 11 G C 47419742 47419742 Broad OR8H1 219469 broad.mit.edu GRCh37 11 56057870 56057870 + synonymous_variant Silent SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000313022.2:c.669C>A p.Thr223= p.T223= ENST00000313022 NM_001005199.1 223 acC/acA 0 Silent G 47 OR8H1 SNP 11 G T 55814446 55814446 Broad SSRP1 6749 broad.mit.edu GRCh37 11 57095888 57095888 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000278412.2:c.1494C>T p.Asn498= p.N498= ENST00000278412 NM_003146.2 498 aaC/aaT 0 Silent G 40 SSRP1 SNP 11 G A 56852464 56852464 Broad TCN1 6947 broad.mit.edu GRCh37 11 59630092 59630092 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000257264.3:c.363G>T p.Lys121Asn p.K121N ENST00000257264 NM_001062.3 121 aaG/aaT 0 Missense_Mutation C 28 TCN1 SNP 11 C A 59386668 59386668 Broad PACS1 55690 broad.mit.edu GRCh37 11 65978677 65978677 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000320580.4:c.607C>T p.Arg203Trp p.R203W ENST00000320580 NM_018026.3 203 Cgg/Tgg 0 Missense_Mutation C 31 PACS1 SNP 11 C T 65735253 65735253 Broad C11orf82 220042 broad.mit.edu GRCh37 11 82639884 82639884 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000533655.1:c.179C>T p.Ser60Phe p.S60F ENST00000533655 NM_145018.3 60 tCc/tTc 0 Missense_Mutation C 30 C11orf82 SNP 11 C T 82317532 82317532 Broad FAT3 120114 broad.mit.edu GRCh37 11 92087887 92087887 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000298047.6:c.2609T>G p.Val870Gly p.V870G ENST00000298047 870 gTc/gGc 0 Missense_Mutation T 58 FAT3 SNP 11 T G 91727535 91727535 Broad ACAT1 38 broad.mit.edu GRCh37 11 108012384 108012384 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000265838.4:c.783T>C p.Phe261= p.F261= ENST00000265838 NM_000019.3 261 ttT/ttC 0 Silent T 61 ACAT1 SNP 11 T C 107517594 107517594 Broad FGF14 2259 broad.mit.edu GRCh37 13 102379046 102379046 + synonymous_variant Silent SNP A A G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000376131.4:c.538T>C p.Leu180= p.L180= ENST00000376131 NM_175929.2 180 Tta/Cta 0 Silent A 4 FGF14 SNP 13 A G 101177047 101177047 Broad AKAP6 9472 broad.mit.edu GRCh37 14 33015182 33015182 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000280979.4:c.1323G>A p.Leu441= p.L441= ENST00000280979 NM_004274.4 441 ttG/ttA 0 Silent G 46 AKAP6 SNP 14 G A 32084933 32084933 Broad GPATCH2L 55668 broad.mit.edu GRCh37 14 76644340 76644340 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000261530.7:c.1062A>T p.Lys354Asn p.K354N ENST00000261530 NM_017926.2 354 aaA/aaT 0 Missense_Mutation A 3 C14orf118 SNP 14 A T 75714093 75714093 Broad BDKRB1 623 broad.mit.edu GRCh37 14 96730614 96730614 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000216629.6:c.595C>A p.His199Asn p.H199N ENST00000216629 NM_000710.3 199 Cac/Aac 0 Missense_Mutation C 25 BDKRB1 SNP 14 C A 95800367 95800367 Broad RYR3 6263 broad.mit.edu GRCh37 15 33893658 33893658 + synonymous_variant Silent SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000389232.4:c.1827G>T p.Gly609= p.G609= ENST00000389232 NM_001036.3 609 ggG/ggT 0 Silent G 43 RYR3 SNP 15 G T 31680950 31680950 Broad NPRL3 8131 broad.mit.edu GRCh37 16 142697 142697 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000399953.3:c.1058C>G p.Ser353Cys p.S353C ENST00000399953 NM_001243247.1 353 tCc/tGc 0 Missense_Mutation G 41 NPRL3 SNP 16 G C 82697 82697 Broad TELO2 9894 broad.mit.edu GRCh37 16 1549265 1549265 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000262319.6:c.864G>A p.Leu288= p.L288= ENST00000262319 NM_016111.3 288 ctG/ctA 0 Silent G 47 TELO2 SNP 16 G A 1489266 1489266 Broad RMI2 116028 broad.mit.edu GRCh37 16 11444576 11444576 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000312499.5:c.373C>T p.Leu125Phe p.L125F ENST00000312499 NM_152308.1 125 Ctt/Ttt 0 Missense_Mutation C 24 C16orf75 SNP 16 C T 11352077 11352077 Broad ERCC4 2072 broad.mit.edu GRCh37 16 14041793 14041793 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000311895.7:c.2340C>T p.Ser780= p.S780= ENST00000311895 NM_005236.2 780 tcC/tcT 0 Silent C 21 ERCC4 SNP 16 C T 13949294 13949294 Broad PRRT2 112476 broad.mit.edu GRCh37 16 29824513 29824513 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000567659.1:c.138G>A p.Glu46= p.E46= ENST00000567659 46 gaG/gaA 0 Silent G 35 PRRT2 SNP 16 G A 29732014 29732014 Broad EIF4A1 1973 broad.mit.edu GRCh37 17 7480957 7480957 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000293831.8:c.839A>G p.Asn280Ser p.N280S ENST00000293831 NM_001416.3 280 aAc/aGc 0 Missense_Mutation A 2 EIF4A1 SNP 17 A G 7421681 7421681 Broad LGALS9C 654346 broad.mit.edu GRCh37 17 18387230 18387230 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000328114.6:c.81C>A p.Asp27Glu p.D27E ENST00000328114 NM_001040078.2 27 gaC/gaA 0 Missense_Mutation C 19 LGALS9C SNP 17 C A 18327955 18327955 Broad IFI35 3430 broad.mit.edu GRCh37 17 41165628 41165628 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000438323.2:c.517G>T p.Val173Phe p.V173F ENST00000438323 173 Gtt/Ttt 0 Missense_Mutation G 40 IFI35 SNP 17 G T 38419154 38419154 Broad RGS9 8787 broad.mit.edu GRCh37 17 63221418 63221418 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000262406.9:c.1706G>A p.Arg569Gln p.R569Q ENST00000262406 NM_003835.3 569 cGg/cAg 0 Missense_Mutation G 39 RGS9 SNP 17 G A 60651880 60651880 Broad BPTF 2186 broad.mit.edu GRCh37 17 65900902 65900902 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000306378.6:c.2758G>C p.Val920Leu p.V920L ENST00000306378 NM_182641.3 920 Gtt/Ctt 0 Missense_Mutation G 48 BPTF SNP 17 G C 63331364 63331364 Broad CYP2A6 1548 broad.mit.edu GRCh37 19 41352954 41352954 + splice_region_variant,synonymous_variant Splice_Region SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000301141.5:c.657C>A p.Leu219= p.L219= ENST00000301141 NM_000762.5 219 ctC/ctA 0 Silent G 33 CYP2A6 SNP 19 G T 46044794 46044794 Broad MYH14 79784 broad.mit.edu GRCh37 19 50779348 50779348 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000601313.1:c.3568G>T p.Val1190Leu p.V1190L ENST00000601313 NM_001145809.1 1190 Gtg/Ttg 0 Missense_Mutation G 48 MYH14 SNP 19 G T 55471160 55471160 Broad ZNF765 91661 broad.mit.edu GRCh37 19 53912330 53912330 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000396408.3:c.1522A>T p.Asn508Tyr p.N508Y ENST00000396408 NM_001040185.1 508 Aac/Tac 0 Missense_Mutation A 1 ZNF765 SNP 19 A T 58604142 58604142 Broad LILRA1 11024 broad.mit.edu GRCh37 19 55106396 55106396 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000251372.3:c.337C>T p.Pro113Ser p.P113S ENST00000251372 NM_006863.3 113 Ccc/Tcc 0 Missense_Mutation C 22 LILRA1 SNP 19 C T 59798208 59798208 Broad KIF3C 3797 broad.mit.edu GRCh37 2 26203452 26203452 + synonymous_variant Silent SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000264712.3:c.1335C>A p.Pro445= p.P445= ENST00000264712 NM_002254.6 445 ccC/ccA 0 Silent G 43 KIF3C SNP 2 G T 26056956 26056956 Broad IL18RAP 8807 broad.mit.edu GRCh37 2 103053804 103053804 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000264260.2:c.712G>T p.Val238Phe p.V238F ENST00000264260 NM_003853.2 238 Gtt/Ttt 0 Missense_Mutation G 48 IL18RAP SNP 2 G T 102420236 102420236 Broad BIN1 274 broad.mit.edu GRCh37 2 127828167 127828167 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000316724.5:c.277G>A p.Asp93Asn p.D93N ENST00000316724 NM_139343.2 93 Gat/Aat 0 Missense_Mutation C 31 BIN1 SNP 2 C T 127544637 127544637 Broad MYO1B 4430 broad.mit.edu GRCh37 2 192261220 192261220 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000392318.3:c.2292G>C p.Trp764Cys p.W764C ENST00000392318 NM_001130158.1 764 tgG/tgC 0 Missense_Mutation G 41 MYO1B SNP 2 G C 191969465 191969465 Broad UGT1A10 54575 broad.mit.edu GRCh37 2 234545823 234545823 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000344644.5:c.655T>C p.Phe219Leu p.F219L ENST00000344644 NM_019075.2 219 Ttt/Ctt 0 Missense_Mutation T 52 UGT1A10 SNP 2 T C 234210562 234210562 Broad VPS16 64601 broad.mit.edu GRCh37 20 2846086 2846086 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000380445.3:c.2216A>G p.Asp739Gly p.D739G ENST00000380445 NM_022575.2 739 gAt/gGt 0 Missense_Mutation A 12 VPS16 SNP 20 A G 2794086 2794086 Broad BPIFB2 80341 broad.mit.edu GRCh37 20 31601751 31601752 + missense_variant Missense_Mutation DNP TG TG AA novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000170150.3:c.444_445delinsAA p.Asp148_Gly149delinsGluSer p.D148_G149delinsES ENST00000170150 NM_025227.2 148 gaTGgc/gaAAgc 0 Missense_Mutation TG 51 BPIL1 DNP 20 TG AA 31065413 31065412 Broad DSN1 79980 broad.mit.edu GRCh37 20 35399277 35399277 + splice_region_variant,synonymous_variant Splice_Region SNP T T G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000426836.1:c.354A>C p.Thr118= p.T118= ENST00000426836 NM_001145316.1 118 acA/acC 0 Silent T 55 DSN1 SNP 20 T G 34832691 34832691 Broad DNTTIP1 116092 broad.mit.edu GRCh37 20 44430077 44430077 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000372622.3:c.478G>T p.Gly160Ter p.G160* ENST00000372622 NM_052951.2 160 Gga/Tga 0 Nonsense_Mutation G 35 DNTTIP1 SNP 20 G T 43863484 43863484 Broad SULF2 55959 broad.mit.edu GRCh37 20 46365480 46365480 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000359930.4:c.382G>T p.Ala128Ser p.A128S ENST00000359930 NM_018837.3 128 Gcc/Tcc 0 Missense_Mutation C 25 SULF2 SNP 20 C A 45798887 45798887 Broad B4GALT5 9334 broad.mit.edu GRCh37 20 48263528 48263528 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000371711.4:c.338C>A p.Thr113Asn p.T113N ENST00000371711 NM_004776.3 113 aCc/aAc 0 Missense_Mutation G 44 B4GALT5 SNP 20 G T 47696935 47696935 Broad POTED 317754 broad.mit.edu GRCh37 21 14987796 14987796 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000299443.5:c.715G>T p.Gly239Ter p.G239* ENST00000299443 NM_174981.3 239 Gga/Tga 0 Nonsense_Mutation G 47 POTED SNP 21 G T 13909667 13909667 Broad PAXBP1 94104 broad.mit.edu GRCh37 21 34117135 34117135 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000331923.4:c.2158T>G p.Ser720Ala p.S720A ENST00000331923 NM_016631.3 720 Tca/Gca 0 Missense_Mutation A 9 GCFC1 SNP 21 A C 33039006 33039006 Broad HLCS 3141 broad.mit.edu GRCh37 21 38309277 38309277 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000399120.1:c.468C>A p.Asn156Lys p.N156K ENST00000399120 NM_001242784.1 156 aaC/aaA 0 Missense_Mutation G 44 HLCS SNP 21 G T 37231147 37231147 Broad SLC6A1 6529 broad.mit.edu GRCh37 3 11059656 11059656 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000287766.4:c.366C>T p.Phe122= p.F122= ENST00000287766 NM_003042.3 122 ttC/ttT 0 Silent C 29 SLC6A1 SNP 3 C T 11034656 11034656 Broad CTNNB1 1499 broad.mit.edu GRCh37 3 41278077 41278077 + splice_acceptor_variant Splice_Site SNP A A G rs71811389 Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000349496.5:c.1955-2A>G p.X652_splice ENST00000349496 NM_001904.3 0 Splice_Site_SNP A 15 CTNNB1 SNP 3 A G 41253081 41253081 Broad COL7A1 1294 broad.mit.edu GRCh37 3 48609450 48609450 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000328333.8:c.7052G>C p.Gly2351Ala p.G2351A ENST00000328333 NM_000094.3 2351 gGa/gCa 0 Missense_Mutation C 30 COL7A1 SNP 3 C G 48584454 48584454 Broad UQCRC1 7384 broad.mit.edu GRCh37 3 48643278 48643279 + missense_variant Missense_Mutation DNP CC CC AA novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000203407.5:c.221_222delinsTT p.Trp74Phe p.W74F ENST00000203407 NM_003365.2 74 tGG/tTT 0 Missense_Mutation CC 30 UQCRC1 DNP 3 CC AA 48618283 48618282 Broad EEFSEC 60678 broad.mit.edu GRCh37 3 128060192 128060192 + synonymous_variant Silent SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000254730.6:c.903G>T p.Gly301= p.G301= ENST00000254730 NM_021937.3 301 ggG/ggT 0 Silent G 44 EEFSEC SNP 3 G T 129542882 129542882 Broad ABCF3 55324 broad.mit.edu GRCh37 3 183910418 183910418 + synonymous_variant Silent SNP C C G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000429586.2:c.1599C>G p.Thr533= p.T533= ENST00000429586 NM_018358.2 533 acC/acG 0 Silent C 21 ABCF3 SNP 3 C G 185393112 185393112 Broad THAP9 79725 broad.mit.edu GRCh37 4 83839692 83839692 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000302236.5:c.2327A>T p.Glu776Val p.E776V ENST00000302236 NM_024672.4 776 gAg/gTg 0 Missense_Mutation A 11 THAP9 SNP 4 A T 84058716 84058716 Broad PTPN13 5783 broad.mit.edu GRCh37 4 87731088 87731088 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000436978.1:c.7265C>A p.Thr2422Asn p.T2422N ENST00000436978 NM_080685.2 2422 aCc/aAc 0 Missense_Mutation C 18 PTPN13 SNP 4 C A 87950112 87950112 Broad MEPE 56955 broad.mit.edu GRCh37 4 88767088 88767088 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000424957.3:c.1068C>A p.Asn356Lys p.N356K ENST00000424957 NM_001184694.1 356 aaC/aaA 0 Missense_Mutation C 17 MEPE SNP 4 C A 88986112 88986112 Broad FAT4 79633 broad.mit.edu GRCh37 4 126241925 126241925 + synonymous_variant Silent SNP T T A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000394329.3:c.4359T>A p.Gly1453= p.G1453= ENST00000394329 NM_024582.4 1453 ggT/ggA 0 Silent T 58 FAT4 SNP 4 T A 126461375 126461375 Broad TKTL2 84076 broad.mit.edu GRCh37 4 164393547 164393547 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000280605.3:c.1340G>T p.Cys447Phe p.C447F ENST00000280605 NM_032136.4 447 tGt/tTt 0 Missense_Mutation C 17 TKTL2 SNP 4 C A 164612997 164612997 Broad SAP30 8819 broad.mit.edu GRCh37 4 174292633 174292633 + synonymous_variant Silent SNP C C A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000296504.3:c.300C>A p.Ile100= p.I100= ENST00000296504 NM_003864.3 100 atC/atA 0 Silent C 31 SAP30 SNP 4 C A 174529208 174529208 Broad GLRA3 8001 broad.mit.edu GRCh37 4 175580273 175580273 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000274093.3:c.1003G>A p.Ala335Thr p.A335T ENST00000274093 NM_006529.2 335 Gca/Aca 0 Missense_Mutation C 25 GLRA3 SNP 4 C T 175816848 175816848 Broad KIAA0947 23379 broad.mit.edu GRCh37 5 5460573 5460573 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000296564.7:c.1126G>A p.Asp376Asn p.D376N ENST00000296564 NM_015325.2 376 Gat/Aat 0 Missense_Mutation G 33 KIAA0947 SNP 5 G A 5513573 5513573 Broad MYO10 4651 broad.mit.edu GRCh37 5 16672879 16672879 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000513610.1:c.5228C>T p.Ala1743Val p.A1743V ENST00000513610 NM_012334.2 1743 gCt/gTt 0 Missense_Mutation G 34 MYO10 SNP 5 G A 16725879 16725879 Broad IL31RA 133396 broad.mit.edu GRCh37 5 55212641 55212641 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000447346.2:c.1988A>G p.Asn663Ser p.N663S ENST00000447346 NM_001242636.1 663 aAt/aGt 0 Missense_Mutation A 4 IL31RA SNP 5 A G 55248398 55248398 Broad FCHO2 115548 broad.mit.edu GRCh37 5 72364550 72364550 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000430046.2:c.1523G>T p.Ser508Ile p.S508I ENST00000430046 NM_138782.2 508 aGt/aTt 0 Missense_Mutation G 36 FCHO2 SNP 5 G T 72400306 72400306 Broad SLCO6A1 133482 broad.mit.edu GRCh37 5 101834369 101834369 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000506729.1:c.180G>T p.Arg60Ser p.R60S ENST00000506729 60 agG/agT 0 Missense_Mutation C 18 SLCO6A1 SNP 5 C A 101862268 101862268 Broad FCHSD1 89848 broad.mit.edu GRCh37 5 141026288 141026288 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000435817.2:c.926T>C p.Val309Ala p.V309A ENST00000435817 NM_033449.2 309 gTg/gCg 0 Missense_Mutation A 6 FCHSD1 SNP 5 A G 141006472 141006472 Broad TEAD3 7005 broad.mit.edu GRCh37 6 35454350 35454350 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000338863.7:c.90T>G p.Asp30Glu p.D30E ENST00000338863 NM_003214.3 30 gaT/gaG 0 Missense_Mutation A 8 TEAD3 SNP 6 A C 35562328 35562328 Broad MOCS1 4337 broad.mit.edu GRCh37 6 39877596 39877596 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000373186.4:c.1085A>G p.Lys362Arg p.K362R ENST00000373186 NM_005943.5 362 aAg/aGg 0 Missense_Mutation T 56 MOCS1 SNP 6 T C 39985574 39985574 Broad CD109 135228 broad.mit.edu GRCh37 6 74517956 74517956 + synonymous_variant Silent SNP A A C novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000287097.5:c.3340A>C p.Arg1114= p.R1114= ENST00000287097 1114 Aga/Cga 0 Silent A 11 CD109 SNP 6 A C 74574677 74574677 Broad CGA 1081 broad.mit.edu GRCh37 6 87795538 87795538 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000369582.2:c.287G>C p.Gly96Ala p.G96A ENST00000369582 NM_000735.3 96 gGg/gCg 0 Missense_Mutation C 22 CGA SNP 6 C G 87852257 87852257 Broad MET 4233 broad.mit.edu GRCh37 7 116339800 116339800 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000397752.3:c.662A>G p.Glu221Gly p.E221G ENST00000397752 NM_000245.2 221 gAa/gGa 0 Missense_Mutation A 9 MET SNP 7 A G 116127036 116127036 Broad NPBWR1 2831 broad.mit.edu GRCh37 8 53853435 53853435 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000331251.3:c.968C>T p.Thr323Ile p.T323I ENST00000331251 NM_005285.3 323 aCt/aTt 0 Missense_Mutation C 20 NPBWR1 SNP 8 C T 54015988 54015988 Broad ASPH 444 broad.mit.edu GRCh37 8 62489351 62489351 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000379454.4:c.1129G>C p.Ala377Pro p.A377P ENST00000379454 NM_004318.3 377 Gca/Cca 0 Missense_Mutation C 28 ASPH SNP 8 C G 62651905 62651905 Broad CYP7B1 9420 broad.mit.edu GRCh37 8 65509443 65509443 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000310193.3:c.1277C>T p.Thr426Ile p.T426I ENST00000310193 NM_004820.3 426 aCc/aTc 0 Missense_Mutation G 44 CYP7B1 SNP 8 G A 65671997 65671997 Broad C9orf72 203228 broad.mit.edu GRCh37 9 27548308 27548308 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000380003.3:c.1372G>C p.Gly458Arg p.G458R ENST00000380003 NM_001256054.1 458 Ggc/Cgc 0 Missense_Mutation C 24 C9orf72 SNP 9 C G 27538308 27538308 Broad UNC13B 10497 broad.mit.edu GRCh37 9 35310543 35310543 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000378495.3:c.841C>T p.His281Tyr p.H281Y ENST00000378495 NM_006377.3 281 Cac/Tac 0 Missense_Mutation C 29 UNC13B SNP 9 C T 35300543 35300543 Broad TBC1D2 55357 broad.mit.edu GRCh37 9 101017822 101017822 + start_lost Translation_Start_Site SNP A A G novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000375066.5:c.2T>C p.Met1? p.M1? ENST00000375066 NM_018421.3 1 aTg/aCg 0 Missense_Mutation A 8 TBC1D2 SNP 9 A G 100057643 100057643 Broad SURF6 6838 broad.mit.edu GRCh37 9 136199561 136199561 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000372022.4:c.429G>A p.Glu143= p.E143= ENST00000372022 NM_006753.5 143 gaG/gaA 0 Silent C 32 SURF6 SNP 9 C T 135189382 135189382 Broad MAGED1 9500 broad.mit.edu GRCh37 X 51639606 51639606 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000375695.2:c.1023G>A p.Gln341= p.Q341= ENST00000375695 NM_001005333.1 341 caG/caA 0 Silent G 33 MAGED1 SNP 23 G A 51656346 51656346 Broad HUWE1 10075 broad.mit.edu GRCh37 X 53560356 53560356 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000342160.3:c.13039C>A p.Leu4347Met p.L4347M ENST00000342160 4347 Ctg/Atg 0 Missense_Mutation G 33 HUWE1 SNP 23 G T 53577081 53577081 Broad PHF8 23133 broad.mit.edu GRCh37 X 54020323 54020323 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000357988.5:c.1445A>G p.Gln482Arg p.Q482R ENST00000357988 NM_001184896.1 482 cAg/cGg 0 Missense_Mutation T 55 PHF8 SNP 23 T C 54037048 54037048 Broad FAM199X 139231 broad.mit.edu GRCh37 X 103434385 103434385 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000493442.1:c.1093T>C p.Phe365Leu p.F365L ENST00000493442 NM_207318.3 365 Ttc/Ctc 0 Missense_Mutation T 56 FAM199X SNP 23 T C 103321041 103321041 Broad KIAA1210 57481 broad.mit.edu GRCh37 X 118228015 118228015 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000402510.2:c.1311A>T p.Leu437Phe p.L437F ENST00000402510 NM_020721.1 437 ttA/ttT 0 Missense_Mutation T 53 KIAA1210 SNP 23 T A 118112043 118112043 Broad SPANXN4 441525 broad.mit.edu GRCh37 X 142122003 142122003 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000446864.1:c.271G>T p.Gly91Ter p.G91* ENST00000446864 NM_001009613.2 91 Gga/Tga 0 Nonsense_Mutation G 35 SPANXN4 SNP 23 G T 141949669 141949669 Broad TREX2 11219 broad.mit.edu GRCh37 X 152710775 152710775 + synonymous_variant Silent SNP G G T novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown x x x ENST00000330912.2:c.114C>A p.Ser38= p.S38= ENST00000330912 38 tcC/tcA 0 Silent G 35 TREX2 SNP 23 G T 152363969 152363969 Broad HMBS 3145 broad.mit.edu GRCh37 11 118958941 118958967 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL GTGACCTGGGGACTTTTTCTGCAGGAA GTGACCTGGGGACTTTTTCTGCAGGAA - novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000278715.3:c.34-23_37del p.X12_splice ENST00000278715 NM_000190.3 0 Splice_Site_Del GTGACCTGGGGACTTTTTCTGCAGGAA 48 HMBS DEL 11 - GTGACCTGGGGACTTTTTCTGCAGGAA 118464177 118464151 Broad RIMBP2 23504 broad.mit.edu GRCh37 12 130897146 130897174 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL ATAGGGGTTTGCGCTTACCTATTTTCTCC ATAGGGGTTTGCGCTTACCTATTTTCTCC - novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000261655.4:c.2811_2821+18del p.X937_splice ENST00000261655 NM_015347.4 937 0 Splice_Site_Del ATAGGGGTTTGCGCTTACCTATTTTCTCC 4 RIMBP2 DEL 12 - ATAGGGGTTTGCGCTTACCTATTTTCTCC 129463127 129463099 Broad PNP 4860 broad.mit.edu GRCh37 14 20940544 20940545 + frameshift_variant Frame_Shift_Del DEL TC TC - novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000361505.5:c.90_91del p.Ile30MetfsTer10 p.I30Mfs*10 ENST00000361505 NM_000270.3 30 aTC/a 0 Frame_Shift_Del TC 50 PNP DEL 14 - TC 20010385 20010384 Broad YLPM1 56252 broad.mit.edu GRCh37 14 75265245 75265248 + frameshift_variant Frame_Shift_Del DEL GGTT GGTT - novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000325680.7:c.3248_3251del p.Leu1083Ter p.L1083* ENST00000325680 NM_019589.2 1082 gGGTTg/gg 0 Frame_Shift_Del GGTT 43 YLPM1 DEL 14 - GGTT 74335001 74334998 Broad TDP1 55775 broad.mit.edu GRCh37 14 90455304 90455310 + frameshift_variant Frame_Shift_Del DEL GTCAGTT GTCAGTT - novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000335725.4:c.1187_1193del p.Gly396ValfsTer24 p.G396Vfs*24 ENST00000335725 NM_018319.3 396 gGTCAGTTt/gt 0 Frame_Shift_Del GTCAGTT 44 TDP1 DEL 14 - GTCAGTT 89525063 89525057 Broad ATG2B 55102 broad.mit.edu GRCh37 14 96788593 96788594 + splice_region_variant,intron_variant Splice_Region INS - - AA novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000359933.4:c.2737-4_2737-3dup p.X913_splice ENST00000359933 NM_018036.5 0 Splice_Site_Ins - 53 ATG2B INS 14 AA - 95858347 95858346 Broad IL21R 50615 broad.mit.edu GRCh37 16 27448978 27449003 + frameshift_variant Frame_Shift_Del DEL GAGTGTGGCAGCTTTCTCCTGGCTGA GAGTGTGGCAGCTTTCTCCTGGCTGA - novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000337929.3:c.325_350del p.Cys109HisfsTer18 p.C109Hfs*18 ENST00000337929 NM_181078.2 108 GAGTGTGGCAGCTTTCTCCTGGCTGAg/g 0 Frame_Shift_Del GAGTGTGGCAGCTTTCTCCTGGCTGA 41 IL21R DEL 16 - GAGTGTGGCAGCTTTCTCCTGGCTGA 27356504 27356479 Broad TP53 7157 broad.mit.edu GRCh37 17 7578266 7578290 + splice_acceptor_variant,coding_sequence_variant Splice_Site DEL TAAGATGCTGAGGAGGGGCCAGACC TAAGATGCTGAGGAGGGGCCAGACC - novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.560-1_583del p.X187_splice ENST00000269305 NM_001126112.2 0 Splice_Site_Del TAAGATGCTGAGGAGGGGCCAGACC 49 TP53 DEL 17 - TAAGATGCTGAGGAGGGGCCAGACC 7519015 7518991 Broad TSC1 7248 broad.mit.edu GRCh37 9 135779074 135779084 + frameshift_variant Frame_Shift_Del DEL GATCACCTTGC GATCACCTTGC - novel Unknown TCGA-09-2044-01 TCGA-09-2044-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000298552.3:c.2162_2172del p.Arg721GlnfsTer9 p.R721Qfs*9 ENST00000298552 NM_001162426.1 721 cGCAAGGTGATC/c 0 Frame_Shift_Del GATCACCTTGC 45 TSC1 DEL 9 - GATCACCTTGC 134768905 134768895 Broad FBXO44 93611 broad.mit.edu GRCh37 1 11718362 11718362 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000376770.1:c.304G>A p.Asp102Asn p.D102N ENST00000376770 NM_001014765.1 102 Gat/Aat 0 Missense_Mutation G 37 FBXO44 SNP 1 G A 11640949 11640949 Broad VPS13D 55187 broad.mit.edu GRCh37 1 12333152 12333152 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000358136.3:c.2196T>A p.Val732= p.V732= ENST00000358136 NM_015378.2 732 gtT/gtA 0 Silent T 63 VPS13D SNP 1 T A 12255739 12255739 Broad CACHD1 57685 broad.mit.edu GRCh37 1 65146957 65146957 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000290039.5:c.3270G>A p.Met1090Ile p.M1090I ENST00000290039 NM_020925.2 1090 atG/atA 0 Missense_Mutation G 48 CACHD1 SNP 1 G A 64919545 64919545 Broad OR10J3 441911 broad.mit.edu GRCh37 1 159284385 159284385 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000332217.5:c.65G>A p.Arg22Gln p.R22Q ENST00000332217 NM_001004467.1 22 cGg/cAg 0 Missense_Mutation C 23 OR10J3 SNP 1 C T 157551009 157551009 Broad TAF3 83860 broad.mit.edu GRCh37 10 8007590 8007590 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000344293.5:c.2117A>G p.Lys706Arg p.K706R ENST00000344293 NM_031923.3 706 aAg/aGg 0 Missense_Mutation A 3 TAF3 SNP 10 A G 8047596 8047596 Broad STAMBPL1 57559 broad.mit.edu GRCh37 10 90676486 90676486 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000371926.3:c.953C>A p.Ala318Glu p.A318E ENST00000371926 NM_020799.3 318 gCg/gAg 0 Missense_Mutation C 27 STAMBPL1 SNP 10 C A 90666466 90666466 Broad LOXL4 84171 broad.mit.edu GRCh37 10 100011329 100011329 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000260702.3:c.2082C>T p.Ile694= p.I694= ENST00000260702 NM_032211.6 694 atC/atT 0 Silent G 33 LOXL4 SNP 10 G A 100001319 100001319 Broad LZTS2 84445 broad.mit.edu GRCh37 10 102763916 102763916 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000370220.1:c.1061T>A p.Met354Lys p.M354K ENST00000370220 354 aTg/aAg 0 Missense_Mutation T 51 LZTS2 SNP 10 T A 102753906 102753906 Broad EBF3 253738 broad.mit.edu GRCh37 10 131757199 131757199 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000368648.3:c.484A>G p.Ser162Gly p.S162G ENST00000368648 NM_001005463.2 162 Agc/Ggc 0 Missense_Mutation T 55 EBF3 SNP 10 T C 131647189 131647189 Broad OR51B2 79345 broad.mit.edu GRCh37 11 5344732 5344732 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000328813.2:c.796G>A p.Val266Met p.V266M ENST00000328813 NM_033180.4 266 Gtg/Atg 0 Missense_Mutation C 17 OR51B2 SNP 11 C T 5301308 5301308 Broad C11orf94 143678 broad.mit.edu GRCh37 11 45928420 45928420 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000449465.1:c.175G>T p.Asp59Tyr p.D59Y ENST00000449465 NM_001080446.2 59 Gac/Tac 0 Missense_Mutation C 21 LOC143678 SNP 11 C A 45884996 45884996 Broad OR5AP2 338675 broad.mit.edu GRCh37 11 56409376 56409376 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000302981.1:c.540C>G p.Ile180Met p.I180M ENST00000302981 NM_001002925.1 180 atC/atG 0 Missense_Mutation G 45 OR5AP2 SNP 11 G C 56165952 56165952 Broad MMP3 4314 broad.mit.edu GRCh37 11 102710943 102710943 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000299855.5:c.831G>C p.Thr277= p.T277= ENST00000299855 NM_002422.3 277 acG/acC 0 Silent C 23 MMP3 SNP 11 C G 102216153 102216153 Broad STAB2 55576 broad.mit.edu GRCh37 12 104134438 104134438 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000388887.2:c.5785C>A p.Pro1929Thr p.P1929T ENST00000388887 NM_017564.9 1929 Ccc/Acc 0 Missense_Mutation C 26 STAB2 SNP 12 C A 102658568 102658568 Broad C12orf76 400073 broad.mit.edu GRCh37 12 110480186 110480186 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000309050.5:c.378G>A p.Ala126= p.A126= ENST00000309050 NM_207435.1 126 gcG/gcA 0 Silent C 19 C12orf76 SNP 12 C T 108964569 108964569 Broad POP5 51367 broad.mit.edu GRCh37 12 121019028 121019028 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000357500.4:c.53C>T p.Pro18Leu p.P18L ENST00000357500 NM_015918.3 18 cCc/cTc 0 Missense_Mutation G 43 POP5 SNP 12 G A 119503411 119503411 Broad WDR66 144406 broad.mit.edu GRCh37 12 122369783 122369783 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000288912.4:c.879C>A p.Tyr293Ter p.Y293* ENST00000288912 NM_144668.5 293 taC/taA 0 Nonsense_Mutation C 18 WDR66 SNP 12 C A 120854166 120854166 Broad MLXIP 22877 broad.mit.edu GRCh37 12 122612462 122612462 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000319080.7:c.553T>C p.Phe185Leu p.F185L ENST00000319080 NM_014938.4_dupl16 185 Ttt/Ctt 0 Missense_Mutation T 56 MLXIP SNP 12 T C 121178416 121178416 Broad CYB5D2 124936 broad.mit.edu GRCh37 17 4060287 4060287 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000301391.3:c.706C>A p.His236Asn p.H236N ENST00000301391 NM_144611.3 236 Cac/Aac 0 Missense_Mutation C 17 CYB5D2 SNP 17 C A 4007036 4007036 Broad MYH2 4620 broad.mit.edu GRCh37 17 10429940 10429940 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000245503.5:c.4163G>A p.Arg1388His p.R1388H ENST00000245503 NM_017534.5 1388 cGc/cAc 0 Missense_Mutation C 27 MYH2 SNP 17 C T 10370665 10370665 Broad FAM211A 388341 broad.mit.edu GRCh37 17 16347318 16347318 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000470794.1:c.619G>C p.Val207Leu p.V207L ENST00000470794 NM_001113567.2 207 Gtg/Ctg 0 Missense_Mutation C 19 C17orf76 SNP 17 C G 16288043 16288043 Broad UTP6 55813 broad.mit.edu GRCh37 17 30202395 30202395 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000261708.4:c.1163C>G p.Ala388Gly p.A388G ENST00000261708 NM_018428.2 388 gCt/gGt 0 Missense_Mutation G 34 UTP6 SNP 17 G C 27226508 27226508 Broad USP36 57602 broad.mit.edu GRCh37 17 76799798 76799798 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000542802.3:c.2479A>G p.Thr827Ala p.T827A ENST00000542802 827 Acg/Gcg 0 Missense_Mutation T 58 USP36 SNP 17 T C 74311393 74311393 Broad KEAP1 9817 broad.mit.edu GRCh37 19 10610143 10610143 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000171111.5:c.567C>G p.Asn189Lys p.N189K ENST00000171111 NM_203500.1 189 aaC/aaG 0 Missense_Mutation G 36 KEAP1 SNP 19 G C 10471143 10471143 Broad SMARCA4 6597 broad.mit.edu GRCh37 19 11138568 11138568 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000344626.4:c.3324C>T p.Leu1108= p.L1108= ENST00000344626 NM_003072.3 1108 ctC/ctT 0 Silent C 29 SMARCA4 SNP 19 C T 10999568 10999568 Broad NOTCH3 4854 broad.mit.edu GRCh37 19 15278118 15278118 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000263388.2:c.5304G>T p.Leu1768= p.L1768= ENST00000263388 NM_000435.2 1768 ctG/ctT 0 Silent C 29 NOTCH3 SNP 19 C A 15139118 15139118 Broad CPAMD8 27151 broad.mit.edu GRCh37 19 17025585 17025585 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000443236.1:c.3809G>A p.Arg1270His p.R1270H ENST00000443236 NM_015692.2 1270 cGc/cAc 0 Missense_Mutation C 27 CPAMD8 SNP 19 C T 16886585 16886585 Broad KCNN4 3783 broad.mit.edu GRCh37 19 44284881 44284881 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000262888.3:c.133G>A p.Glu45Lys p.E45K ENST00000262888 NM_002250.2 45 Gag/Aag 0 Missense_Mutation C 32 KCNN4 SNP 19 C T 48976721 48976721 Broad NCR1 9437 broad.mit.edu GRCh37 19 55420747 55420747 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000291890.4:c.499G>A p.Gly167Arg p.G167R ENST00000291890 NM_004829.6 167 Gga/Aga 0 Missense_Mutation G 39 NCR1 SNP 19 G A 60112559 60112559 Broad BRSK1 84446 broad.mit.edu GRCh37 19 55815055 55815055 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000309383.1:c.1147G>T p.Asp383Tyr p.D383Y ENST00000309383 NM_032430.1 383 Gat/Tat 0 Missense_Mutation G 41 BRSK1 SNP 19 G T 60506867 60506867 Broad SESTD1 91404 broad.mit.edu GRCh37 2 180008450 180008450 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000428443.3:c.718G>A p.Glu240Lys p.E240K ENST00000428443 NM_178123.4 240 Gaa/Aaa 0 Missense_Mutation C 29 SESTD1 SNP 2 C T 179716695 179716695 Broad MAP2 4133 broad.mit.edu GRCh37 2 210574938 210574938 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000360351.4:c.5033G>C p.Gly1678Ala p.G1678A ENST00000360351 NM_002374.3 1678 gGa/gCa 0 Missense_Mutation G 41 MAP2 SNP 2 G C 210283183 210283183 Broad SLC16A14 151473 broad.mit.edu GRCh37 2 230923879 230923879 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000295190.4:c.190G>T p.Glu64Ter p.E64* ENST00000295190 NM_152527.4 64 Gaa/Taa 0 Nonsense_Mutation C 32 SLC16A14 SNP 2 C A 230632123 230632123 Broad BPIFB6 128859 broad.mit.edu GRCh37 20 31626752 31626752 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000349552.1:c.884C>T p.Ala295Val p.A295V ENST00000349552 NM_174897.2 295 gCt/gTt 0 Missense_Mutation C 28 BPIL3 SNP 20 C T 31090413 31090413 Broad MATN4 8785 broad.mit.edu GRCh37 20 43932967 43932967 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000537548.1:c.544C>T p.Arg182Cys p.R182C ENST00000537548 NM_003833.4 182 Cgc/Tgc 0 Missense_Mutation G 38 MATN4 SNP 20 G A 43366381 43366381 Broad KRTAP27-1 643812 broad.mit.edu GRCh37 21 31709535 31709535 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000382835.2:c.452T>C p.Phe151Ser p.F151S ENST00000382835 NM_001077711.1 151 tTc/tCc 0 Missense_Mutation A 9 KRTAP27-1 SNP 21 A G 30631406 30631406 Broad TFF1 7031 broad.mit.edu GRCh37 21 43786532 43786532 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000291527.2:c.73G>C p.Glu25Gln p.E25Q ENST00000291527 NM_003225.2 25 Gag/Cag 0 Missense_Mutation C 31 TFF1 SNP 21 C G 42659601 42659601 Broad MORC2 22880 broad.mit.edu GRCh37 22 31330166 31330166 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000215862.4:c.2020C>T p.Arg674Trp p.R674W ENST00000215862 NM_014941.1 674 Cgg/Tgg 0 Missense_Mutation G 37 MORC2 SNP 22 G A 29660166 29660166 Broad IQSEC1 9922 broad.mit.edu GRCh37 3 12963738 12963738 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000273221.4:c.1777G>A p.Val593Ile p.V593I ENST00000273221 NM_014869.5 593 Gtc/Atc 0 Missense_Mutation C 19 IQSEC1 SNP 3 C T 12938738 12938738 Broad SLC4A7 9497 broad.mit.edu GRCh37 3 27472842 27472842 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000295736.5:c.1070C>A p.Ala357Glu p.A357E ENST00000295736 NM_003615.4 357 gCa/gAa 0 Missense_Mutation G 46 SLC4A7 SNP 3 G T 27447846 27447846 Broad SLC9C1 285335 broad.mit.edu GRCh37 3 111997686 111997686 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000305815.5:c.208G>A p.Ala70Thr p.A70T ENST00000305815 NM_183061.1 70 Gcc/Acc 0 Missense_Mutation C 27 SLC9A10 SNP 3 C T 113480376 113480376 Broad RTP1 132112 broad.mit.edu GRCh37 3 186917725 186917725 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000312295.4:c.659C>T p.Ala220Val p.A220V ENST00000312295 NM_153708.2 220 gCg/gTg 0 Missense_Mutation C 27 RTP1 SNP 3 C T 188400419 188400419 Broad CPZ 8532 broad.mit.edu GRCh37 4 8605814 8605814 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000360986.4:c.608G>A p.Arg203His p.R203H ENST00000360986 NM_001014447.2 203 cGc/cAc 0 Missense_Mutation G 38 CPZ SNP 4 G A 8656714 8656714 Broad ADH1B 125 broad.mit.edu GRCh37 4 100235225 100235225 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000305046.8:c.581C>T p.Ser194Phe p.S194F ENST00000305046 194 tCt/tTt 0 Missense_Mutation G 33 ADH1B SNP 4 G A 100454248 100454248 Broad TENM2 57451 broad.mit.edu GRCh37 5 167517659 167517659 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000518659.1:c.1596C>A p.Thr532= p.T532= ENST00000518659 NM_001122679.1 532 acC/acA 0 Silent C 24 ODZ2 SNP 5 C A 167450237 167450237 Broad SLC17A2 10246 broad.mit.edu GRCh37 6 25916965 25916965 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000360488.3:c.878T>G p.Leu293Arg p.L293R ENST00000360488 NM_005835.2 293 cTa/cGa 0 Missense_Mutation A 15 SLC17A2 SNP 6 A C 26024944 26024944 Broad USP45 85015 broad.mit.edu GRCh37 6 99894075 99894075 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000327681.6:c.1573G>T p.Gly525Ter p.G525* ENST00000327681 NM_001080481.1 525 Gga/Tga 0 Nonsense_Mutation C 21 USP45 SNP 6 C A 100000796 100000796 Broad SERINC1 57515 broad.mit.edu GRCh37 6 122777762 122777762 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000339697.4:c.235G>C p.Val79Leu p.V79L ENST00000339697 NM_020755.2 79 Gtc/Ctc 0 Missense_Mutation C 17 SERINC1 SNP 6 C G 122819461 122819461 Broad PHACTR2 9749 broad.mit.edu GRCh37 6 144095220 144095220 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000440869.2:c.1457G>A p.Arg486Gln p.R486Q ENST00000440869 NM_001100164.1 486 cGg/cAg 0 Missense_Mutation G 39 PHACTR2 SNP 6 G A 144136913 144136913 Broad TTLL2 83887 broad.mit.edu GRCh37 6 167754356 167754356 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000239587.5:c.968C>T p.Thr323Met p.T323M ENST00000239587 NM_031949.4 323 aCg/aTg 0 Missense_Mutation C 19 TTLL2 SNP 6 C T 167674346 167674346 Broad FAM200A 221786 broad.mit.edu GRCh37 7 99145297 99145297 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000449309.1:c.734G>A p.Arg245Gln p.R245Q ENST00000449309 NM_145111.3 245 cGa/cAa 0 Missense_Mutation C 31 FAM200A SNP 7 C T 98983233 98983233 Broad SRRT 51593 broad.mit.edu GRCh37 7 100482600 100482600 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000347433.4:c.1098C>T p.Ser366= p.S366= ENST00000347433 366 agC/agT 0 Silent C 27 SRRT SNP 7 C T 100320536 100320536 Broad MET 4233 broad.mit.edu GRCh37 7 116339852 116339852 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000397752.3:c.714A>T p.Leu238Phe p.L238F ENST00000397752 NM_000245.2 238 ttA/ttT 0 Missense_Mutation A 14 MET SNP 7 A T 116127088 116127088 Broad DOLK 22845 broad.mit.edu GRCh37 9 131708478 131708478 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000372586.3:c.1105G>T p.Val369Phe p.V369F ENST00000372586 NM_014908.3 369 Gtc/Ttc 0 Missense_Mutation C 18 DOLK SNP 9 C A 130748299 130748299 Broad FUBP3 8939 broad.mit.edu GRCh37 9 133511477 133511477 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000319725.9:c.1674C>T p.Tyr558= p.Y558= ENST00000319725 NM_003934.1 558 taC/taT 0 Silent C 19 FUBP3 SNP 9 C T 132501298 132501298 Broad ZXDA 7789 broad.mit.edu GRCh37 X 57935896 57935896 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000358697.4:c.959A>C p.His320Pro p.H320P ENST00000358697 NM_007156.4 320 cAc/cCc 0 Missense_Mutation T 59 ZXDA SNP 23 T G 57952621 57952621 Broad SMARCA1 6594 broad.mit.edu GRCh37 X 128645834 128645834 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000371122.4:c.757C>T p.Arg253Ter p.R253* ENST00000371122 NM_003069.3 253 Cga/Tga 0 Nonsense_Mutation G 40 SMARCA1 SNP 23 G A 128473515 128473515 Broad ATP11C 286410 broad.mit.edu GRCh37 X 138865393 138865393 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000327569.3:c.1709C>G p.Ser570Trp p.S570W ENST00000327569 NM_173694.4 570 tCg/tGg 0 Missense_Mutation G 37 ATP11C SNP 23 G C 138693059 138693059 Broad SLITRK4 139065 broad.mit.edu GRCh37 X 142716427 142716427 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000381779.4:c.2498C>A p.Ala833Asp p.A833D ENST00000381779 NM_001184750.1 833 gCt/gAt 0 Missense_Mutation G 34 SLITRK4 SNP 23 G T 142544093 142544093 Broad GABRE 2564 broad.mit.edu GRCh37 X 151123994 151123994 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown x x x ENST00000370328.3:c.983G>A p.Arg328His p.R328H ENST00000370328 NM_004961.3 328 cGt/cAt 0 Missense_Mutation C 19 GABRE SNP 23 C T 150874650 150874650 Broad TP53 7157 broad.mit.edu GRCh37 17 7578275 7578275 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1474-01 TCGA-24-1474-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.574C>T p.Gln192Ter p.Q192* ENST00000269305 NM_001126112.2 192 Cag/Tag 0 Nonsense_Mutation G 45 TP53 SNP 17 G A 7519000 7519000 Broad SLC9A1 6548 broad.mit.edu GRCh37 1 27432547 27432547 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000263980.3:c.1314G>A p.Lys438= p.K438= ENST00000263980 NM_003047.4 438 aaG/aaA 0 Silent C 20 SLC9A1 SNP 1 C T 27305134 27305134 Broad FLG2 388698 broad.mit.edu GRCh37 1 152324055 152324055 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000388718.5:c.6207C>T p.His2069= p.H2069= ENST00000388718 NM_001014342.2 2069 caC/caT 0 Silent G 40 FLG2 SNP 1 G A 150590679 150590679 Broad PAQR6 79957 broad.mit.edu GRCh37 1 156214595 156214595 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000335852.1:c.399C>T p.Ser133= p.S133= ENST00000335852 NM_024897.3 133 tcC/tcT 0 Silent G 43 PAQR6 SNP 1 G A 154481219 154481219 Broad RCSD1 92241 broad.mit.edu GRCh37 1 167666650 167666650 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000367854.3:c.789G>T p.Lys263Asn p.K263N ENST00000367854 NM_052862.3 263 aaG/aaT 0 Missense_Mutation G 35 RCSD1 SNP 1 G T 165933274 165933274 Broad HMCN1 83872 broad.mit.edu GRCh37 1 186084057 186084057 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000271588.4:c.11383C>T p.Arg3795Ter p.R3795* ENST00000271588 NM_031935.2 3795 Cga/Tga 0 Nonsense_Mutation C 27 HMCN1 SNP 1 C T 184350680 184350680 Broad JMJD4 65094 broad.mit.edu GRCh37 1 227921325 227921325 + synonymous_variant Silent SNP C C G novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000366758.3:c.750G>C p.Gly250= p.G250= ENST00000366758 NM_023007.2 250 ggG/ggC 0 Silent C 30 JMJD4 SNP 1 C G 225987948 225987948 Broad OBSCN 84033 broad.mit.edu GRCh37 1 228400296 228400296 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000570156.2:c.812G>A p.Trp271Ter p.W271* ENST00000570156 NM_001271223.2 271 tGg/tAg 0 Nonsense_Mutation G 47 OBSCN SNP 1 G A 226466919 226466919 Broad PLD5 200150 broad.mit.edu GRCh37 1 242383405 242383405 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000536534.2:c.620C>T p.Thr207Met p.T207M ENST00000536534 207 aCg/aTg 0 Missense_Mutation G 40 PLD5 SNP 1 G A 240450028 240450028 Broad KIAA1217 56243 broad.mit.edu GRCh37 10 24762850 24762850 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000376454.3:c.1540G>A p.Glu514Lys p.E514K ENST00000376454 NM_019590.3 514 Gag/Aag 0 Missense_Mutation G 41 KIAA1217 SNP 10 G A 24802856 24802856 Broad ARMC4 55130 broad.mit.edu GRCh37 10 28233340 28233340 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000305242.5:c.1554G>T p.Leu518= p.L518= ENST00000305242 NM_018076.2 518 ctG/ctT 0 Silent C 29 ARMC4 SNP 10 C A 28273346 28273346 Broad COL17A1 1308 broad.mit.edu GRCh37 10 105819892 105819892 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000353479.5:c.1126G>A p.Ala376Thr p.A376T ENST00000353479 NM_000494.3 376 Gcc/Acc 0 Missense_Mutation C 25 COL17A1 SNP 10 C T 105809882 105809882 Broad DOCK1 1793 broad.mit.edu GRCh37 10 129207368 129207369 + missense_variant Missense_Mutation DNP CT CT AG novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000280333.6:c.4127_4128inv p.Thr1376Lys p.T1376K ENST00000280333 NM_001380.3 1376 aCT/aAG 0 Missense_Mutation CT 20 DOCK1 DNP 10 CT AG 129097359 129097358 Broad CNTN5 53942 broad.mit.edu GRCh37 11 100095518 100095518 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000524871.1:c.1979C>A p.Ser660Ter p.S660* ENST00000524871 NM_014361.3 660 tCa/tAa 0 Nonsense_Mutation C 29 CNTN5 SNP 11 C A 99600728 99600728 Broad TBC1D4 9882 broad.mit.edu GRCh37 13 75869049 75869049 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000377636.3:c.3257C>T p.Pro1086Leu p.P1086L ENST00000377636 NM_014832.2 1086 cCc/cTc 0 Missense_Mutation G 43 TBC1D4 SNP 13 G A 74767050 74767050 Broad RASA3 22821 broad.mit.edu GRCh37 13 114751254 114751254 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000334062.7:c.2261A>C p.Lys754Thr p.K754T ENST00000334062 NM_007368.2 754 aAa/aCa 0 Missense_Mutation T 64 RASA3 SNP 13 T G 113769356 113769356 Broad TEP1 7011 broad.mit.edu GRCh37 14 20864064 20864064 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000262715.5:c.1704C>T p.Asn568= p.N568= ENST00000262715 NM_007110.4 568 aaC/aaT 0 Silent G 40 TEP1 SNP 14 G A 19933904 19933904 Broad KHNYN 23351 broad.mit.edu GRCh37 14 24901081 24901081 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000251343.5:c.614C>T p.Ala205Val p.A205V ENST00000251343 205 gCa/gTa 0 Missense_Mutation C 25 KHNYN SNP 14 C T 23970921 23970921 Broad AGBL1 123624 broad.mit.edu GRCh37 15 87217595 87217595 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000441037.2:c.3011G>A p.Ser1004Asn p.S1004N ENST00000441037 NM_152336.2 1004 aGc/aAc 0 Missense_Mutation G 34 AGBL1 SNP 15 G A 85018599 85018599 Broad ZNF785 146540 broad.mit.edu GRCh37 16 30594011 30594011 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000395216.2:c.1088G>A p.Arg363His p.R363H ENST00000395216 NM_152458.6 363 cGc/cAc 0 Missense_Mutation C 27 ZNF785 SNP 16 C T 30501512 30501512 Broad MYBBP1A 10514 broad.mit.edu GRCh37 17 4453489 4453489 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000381556.2:c.1183G>C p.Val395Leu p.V395L ENST00000381556 NM_014520.3 395 Gtg/Ctg 0 Missense_Mutation C 19 MYBBP1A SNP 17 C G 4400238 4400238 Broad TP53 7157 broad.mit.edu GRCh37 17 7578550 7578550 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.380C>A p.Ser127Tyr p.S127Y ENST00000269305 NM_001126112.2 127 tCc/tAc 0 Missense_Mutation G 41 TP53 SNP 17 G T 7519275 7519275 Broad C17orf104 284071 broad.mit.edu GRCh37 17 42745400 42745400 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000409122.2:c.2121T>C p.Tyr707= p.Y707= ENST00000409122 NM_001145080.2 707 taT/taC 0 Silent T 51 uc002igz.2 SNP 17 T C 40100926 40100926 Broad THOP1 7064 broad.mit.edu GRCh37 19 2799759 2799759 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000307741.6:c.559A>C p.Thr187Pro p.T187P ENST00000307741 NM_003249.3 187 Acc/Ccc 0 Missense_Mutation A 10 THOP1 SNP 19 A C 2750759 2750759 Broad MYT1L 23040 broad.mit.edu GRCh37 2 1906916 1906916 + synonymous_variant Silent SNP A A G novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000428368.2:c.1962T>C p.Tyr654= p.Y654= ENST00000428368 654 taT/taC 0 Silent A 8 MYT1L SNP 2 A G 1885923 1885923 Broad SOWAHC 65124 broad.mit.edu GRCh37 2 110372940 110372940 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000356454.3:c.874G>A p.Gly292Ser p.G292S ENST00000356454 NM_023016.3 292 Ggc/Agc 0 Missense_Mutation G 39 ANKRD57 SNP 2 G A 109730229 109730229 Broad TTN 7273 broad.mit.edu GRCh37 2 179440618 179440618 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000589042.1:c.70241T>C p.Val23414Ala p.V23414A ENST00000589042 NM_001267550.1 23414 gTc/gCc 0 Missense_Mutation A 10 TTN SNP 2 A G 179148864 179148864 Broad FAM124B 79843 broad.mit.edu GRCh37 2 225266122 225266122 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000409685.3:c.364C>T p.Gln122Ter p.Q122* ENST00000409685 NM_001122779.1 122 Cag/Tag 0 Nonsense_Mutation G 45 FAM124B SNP 2 G A 224974366 224974366 Broad PER2 8864 broad.mit.edu GRCh37 2 239169529 239169529 + synonymous_variant Silent SNP A A C novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000254657.3:c.1482T>G p.Leu494= p.L494= ENST00000254657 NM_022817.2 494 ctT/ctG 0 Silent A 13 PER2 SNP 2 A C 238834268 238834268 Broad TLDC2 140711 broad.mit.edu GRCh37 20 35507570 35507570 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000217320.3:c.316C>T p.Leu106= p.L106= ENST00000217320 NM_080628.1 106 Ctg/Ttg 0 Silent C 28 C20orf118 SNP 20 C T 34940984 34940984 Broad PREX1 57580 broad.mit.edu GRCh37 20 47305234 47305234 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000371941.3:c.1295G>A p.Arg432Gln p.R432Q ENST00000371941 NM_020820.3 432 cGg/cAg 0 Missense_Mutation C 23 PREX1 SNP 20 C T 46738641 46738641 Broad HIRA 7290 broad.mit.edu GRCh37 22 19340961 19340961 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000263208.5:c.2766G>T p.Gln922His p.Q922H ENST00000263208 NM_003325.3 922 caG/caT 0 Missense_Mutation C 24 HIRA SNP 22 C A 17720961 17720961 Broad TTLL12 23170 broad.mit.edu GRCh37 22 43570517 43570517 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000216129.6:c.1022T>G p.Phe341Cys p.F341C ENST00000216129 NM_015140.3 341 tTc/tGc 0 Missense_Mutation A 9 TTLL12 SNP 22 A C 41900461 41900461 Broad SNRK 54861 broad.mit.edu GRCh37 3 43389239 43389239 + synonymous_variant Silent SNP C C T rs2036617 byCluster;byFrequency;by2Hit2Allele;byHapMap TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000296088.7:c.1488C>T p.Asp496= p.D496= ENST00000296088 NM_017719.4 496 gaC/gaT 0 Silent C 19 SNRK SNP 3 C T 43364243 43364243 Broad MON1A 84315 broad.mit.edu GRCh37 3 49949408 49949408 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000296473.3:c.455G>A p.Arg152His p.R152H ENST00000296473 NM_032355.3 152 cGt/cAt 0 Missense_Mutation C 19 MON1A SNP 3 C T 49924412 49924412 Broad SUCNR1 56670 broad.mit.edu GRCh37 3 151599309 151599309 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000362032.5:c.978A>T p.Glu326Asp p.E326D ENST00000362032 NM_033050.4 326 gaA/gaT 0 Missense_Mutation A 2 SUCNR1 SNP 3 A T 153081999 153081999 Broad HSD17B11 51170 broad.mit.edu GRCh37 4 88261739 88261739 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000358290.4:c.715C>T p.Pro239Ser p.P239S ENST00000358290 NM_016245.3 239 Cct/Tct 0 Missense_Mutation G 44 HSD17B11 SNP 4 G A 88480763 88480763 Broad EXOC3 11336 broad.mit.edu GRCh37 5 454157 454157 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000512944.1:c.1037C>A p.Thr346Asn p.T346N ENST00000512944 NM_007277.4 346 aCc/aAc 0 Missense_Mutation C 18 EXOC3 SNP 5 C A 507157 507157 Broad C7 730 broad.mit.edu GRCh37 5 40976882 40976882 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000313164.9:c.2105G>A p.Cys702Tyr p.C702Y ENST00000313164 NM_000587.2 702 tGt/tAt 0 Missense_Mutation G 48 C7 SNP 5 G A 41012639 41012639 Broad PCDHA4 56144 broad.mit.edu GRCh37 5 140188264 140188264 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000530339.1:c.1492C>T p.Arg498Trp p.R498W ENST00000530339 NM_018907.2 498 Cgg/Tgg 0 Missense_Mutation C 27 PCDHA4 SNP 5 C T 140168448 140168448 Broad GRM6 2916 broad.mit.edu GRCh37 5 178413884 178413884 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000231188.5:c.1455C>T p.Gly485= p.G485= ENST00000231188 NM_000843.3 485 ggC/ggT 0 Silent G 38 GRM6 SNP 5 G A 178346490 178346490 Broad SLC44A4 80736 broad.mit.edu GRCh37 6 31831460 31831460 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000229729.6:c.2077A>G p.Lys693Glu p.K693E ENST00000229729 NM_025257.2 693 Aag/Gag 0 Missense_Mutation T 64 SLC44A4 SNP 6 T C 31939439 31939439 Broad UTRN 7402 broad.mit.edu GRCh37 6 145157613 145157613 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000367545.3:c.10001T>C p.Ile3334Thr p.I3334T ENST00000367545 NM_007124.2 3334 aTt/aCt 0 Missense_Mutation T 52 UTRN SNP 6 T C 145199306 145199306 Broad HECW1 23072 broad.mit.edu GRCh37 7 43590137 43590137 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000395891.2:c.4342G>A p.Val1448Met p.V1448M ENST00000395891 NM_015052.3 1448 Gtg/Atg 0 Missense_Mutation G 44 HECW1 SNP 7 G A 43556662 43556662 Broad C7orf65 401335 broad.mit.edu GRCh37 7 47694947 47694947 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000408988.2:c.70+1G>C p.X24_splice ENST00000408988 NM_001123065.1 0 Splice_Site_SNP G 44 C7orf65 SNP 7 G C 47661472 47661472 Broad SLC20A2 6575 broad.mit.edu GRCh37 8 42275437 42275437 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000342228.3:c.1843G>A p.Asp615Asn p.D615N ENST00000342228 NM_006749.4 615 Gac/Aac 0 Missense_Mutation C 30 SLC20A2 SNP 8 C T 42394594 42394594 Broad OR1L4 254973 broad.mit.edu GRCh37 9 125486515 125486515 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000259466.1:c.247C>G p.Leu83Val p.L83V ENST00000259466 NM_001005235.1 83 Ctg/Gtg 0 Missense_Mutation C 28 OR1L4 SNP 9 C G 124526336 124526336 Broad SHROOM2 357 broad.mit.edu GRCh37 X 9900829 9900829 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000380913.3:c.3506C>T p.Ser1169Leu p.S1169L ENST00000380913 NM_001649.2 1169 tCg/tTg 0 Missense_Mutation C 31 SHROOM2 SNP 23 C T 9860829 9860829 Broad WWC3 55841 broad.mit.edu GRCh37 X 10096631 10096631 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000380861.4:c.2315C>T p.Ala772Val p.A772V ENST00000380861 NM_015691.3 772 gCa/gTa 0 Missense_Mutation C 25 WWC3 SNP 23 C T 10056631 10056631 Broad DMD 1756 broad.mit.edu GRCh37 X 32382739 32382739 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000357033.4:c.5114C>T p.Ser1705Leu p.S1705L ENST00000357033 NM_004007.2 1705 tCa/tTa 0 Missense_Mutation G 45 DMD SNP 23 G A 32292660 32292660 Broad FAM47A 158724 broad.mit.edu GRCh37 X 34148259 34148259 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000346193.3:c.2137C>A p.Pro713Thr p.P713T ENST00000346193 NM_203408.3 713 Cct/Act 0 Missense_Mutation G 44 FAM47A SNP 23 G T 34058180 34058180 Broad AWAT1 158833 broad.mit.edu GRCh37 X 69460020 69460020 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000374521.3:c.867G>T p.Lys289Asn p.K289N ENST00000374521 NM_001013579.2 289 aaG/aaT 0 Missense_Mutation G 34 AWAT1 SNP 23 G T 69376745 69376745 Broad SASH3 54440 broad.mit.edu GRCh37 X 128926972 128926972 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000356892.3:c.809C>T p.Thr270Ile p.T270I ENST00000356892 NM_018990.3 270 aCa/aTa 0 Missense_Mutation C 17 SASH3 SNP 23 C T 128754653 128754653 Broad ZNF185 7739 broad.mit.edu GRCh37 X 152113972 152113972 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2110-01 TCGA-61-2110-11 Unknown Unknown Unknown x x x ENST00000535861.1:c.1466C>A p.Ser489Tyr p.S489Y ENST00000535861 NM_001178106.1 489 tCt/tAt 0 Missense_Mutation C 32 ZNF185 SNP 23 C A 151864628 151864628 Broad ADAM2 2515 hgsc.bcm.edu GRCh37 8 39613302 39613302 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265708.4:c.1742A>C p.His581Pro p.H581P ENST00000265708 NM_001464.4 581 cAt/cCt 0 Missense_Mutation T 51 ADAM2 SNP 8 T G 39732459 39732459 Baylor ARSF 416 hgsc.bcm.edu GRCh37 X 3002505 3002505 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381127.1:c.628G>A p.Gly210Ser p.G210S ENST00000381127 NM_001201539.1 210 Ggc/Agc 0 Missense_Mutation G 39 ARSF SNP 23 G A 3012505 3012505 Baylor ATRNL1 26033 hgsc.bcm.edu GRCh37 10 117059759 117059759 + splice_donor_variant Splice_Site SNP T T A novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000355044.3:c.2629+2T>A p.X877_splice ENST00000355044 NM_207303.2 0 Splice_Site_SNP T 57 ATRNL1 SNP 10 T A 117049749 117049749 Baylor SUGCT 79783 hgsc.bcm.edu GRCh37 7 40488936 40488936 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000309930.5:c.888G>T p.Gln296His p.Q296H ENST00000309930 NM_024728.2 296 caG/caT 0 Missense_Mutation G 34 C7orf10 SNP 7 G T 40455461 40455461 Baylor CA9 768 hgsc.bcm.edu GRCh37 9 35679874 35679874 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378357.4:c.1089G>A p.Leu363= p.L363= ENST00000378357 NM_001216.2 363 ctG/ctA 0 Silent G 48 CA9 SNP 9 G A 35669874 35669874 Baylor CDK5RAP1 51654 hgsc.bcm.edu GRCh37 20 31984680 31984680 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000346416.2:c.191C>A p.Thr64Asn p.T64N ENST00000346416 NM_001278169.1 64 aCt/aAt 0 Missense_Mutation G 36 CDK5RAP1 SNP 20 G T 31448341 31448341 Baylor CEBPZ 10153 hgsc.bcm.edu GRCh37 2 37456031 37456031 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000234170.5:c.305T>C p.Val102Ala p.V102A ENST00000234170 NM_005760.2 102 gTt/gCt 0 Missense_Mutation A 2 CEBPZ SNP 2 A G 37309535 37309535 Baylor CENPE 1062 hgsc.bcm.edu GRCh37 4 104065688 104065688 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265148.3:c.4945T>C p.Leu1649= p.L1649= ENST00000265148 NM_001813.2 1649 Ttg/Ctg 0 Silent A 3 CENPE SNP 4 A G 104285137 104285137 Baylor COL6A3 1293 hgsc.bcm.edu GRCh37 2 238303599 238303599 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295550.4:c.340G>T p.Gly114Ter p.G114* ENST00000295550 NM_004369.3 114 Gga/Tga 0 Nonsense_Mutation C 22 COL6A3 SNP 2 C A 237968338 237968338 Baylor CTDSP1 58190 hgsc.bcm.edu GRCh37 2 219266330 219266330 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000273062.2:c.111C>T p.Gly37= p.G37= ENST00000273062 NM_021198.2 37 ggC/ggT 0 Silent C 25 CTDSP1 SNP 2 C T 218974574 218974574 Baylor CTNND2 1501 hgsc.bcm.edu GRCh37 5 10973590 10973590 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000304623.8:c.3653C>T p.Pro1218Leu p.P1218L ENST00000304623 NM_001332.2 1218 cCg/cTg 0 Missense_Mutation G 39 CTNND2 SNP 5 G A 11026590 11026590 Baylor EIF2AK3 9451 hgsc.bcm.edu GRCh37 2 88857412 88857412 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000303236.3:c.3193C>T p.Arg1065Ter p.R1065* ENST00000303236 NM_004836.5 1065 Cga/Tga 0 Nonsense_Mutation G 40 EIF2AK3 SNP 2 G A 88638527 88638527 Baylor EPHB4 2050 hgsc.bcm.edu GRCh37 7 100410422 100410422 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358173.3:c.2065G>A p.Val689Ile p.V689I ENST00000358173 NM_004444.4 689 Gtc/Atc 0 Missense_Mutation C 19 EPHB4 SNP 7 C T 100248358 100248358 Baylor FBXL20 84961 hgsc.bcm.edu GRCh37 17 37425079 37425079 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264658.6:c.933+1G>A p.X311_splice ENST00000264658 NM_032875.2 0 Splice_Site_SNP C 18 FBXL20 SNP 17 C T 34678605 34678605 Baylor FGFR1 2260 hgsc.bcm.edu GRCh37 8 38275796 38275796 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000425967.3:c.1473C>T p.Val491= p.V491= ENST00000425967 NM_001174067.1 491 gtC/gtT 0 Silent G 33 FGFR1 SNP 8 G A 38394953 38394953 Baylor FNDC3B 64778 hgsc.bcm.edu GRCh37 3 171965365 171965365 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000336824.4:c.307C>T p.Pro103Ser p.P103S ENST00000336824 NM_001135095.1 103 Ccc/Tcc 0 Missense_Mutation C 18 FNDC3B SNP 3 C T 173448059 173448059 Baylor GJA5 2702 hgsc.bcm.edu GRCh37 1 147231245 147231245 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000271348.2:c.102G>A p.Met34Ile p.M34I ENST00000271348 NM_005266.6 34 atG/atA 0 Missense_Mutation C 25 GJA5 SNP 1 C T 145697869 145697869 Baylor INPP5F 22876 hgsc.bcm.edu GRCh37 10 121586929 121586929 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361976.2:c.3036G>A p.Ser1012= p.S1012= ENST00000361976 NM_014937.3 1012 tcG/tcA 0 Silent G 38 INPP5F SNP 10 G A 121576919 121576919 Baylor ITGB7 3695 hgsc.bcm.edu GRCh37 12 53585702 53585702 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000267082.5:c.2257T>C p.Tyr753His p.Y753H ENST00000267082 NM_000889.1 753 Tat/Cat 0 Missense_Mutation A 15 ITGB7 SNP 12 A G 51871969 51871969 Baylor KCNJ1 3758 hgsc.bcm.edu GRCh37 11 128709991 128709991 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000392664.2:c.205del p.Trp69GlyfsTer13 p.W69Gfs*13 ENST00000392664 NM_000220.4 69 Tgg/gg 0 Frame_Shift_Del A 7 KCNJ1 DEL 11 A - 128215201 128215201 Baylor KCNK10 54207 hgsc.bcm.edu GRCh37 14 88693873 88693873 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000319231.5:c.527G>C p.Gly176Ala p.G176A ENST00000319231 NM_138317.2 176 gGg/gCg 0 Missense_Mutation C 22 KCNK10 SNP 14 C G 87763626 87763626 Baylor LAMA2 3908 hgsc.bcm.edu GRCh37 6 129663610 129663610 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000421865.2:c.4434C>T p.Asn1478= p.N1478= ENST00000421865 NM_001079823.1 1478 aaC/aaT 0 Silent C 17 LAMA2 SNP 6 C T 129705303 129705303 Baylor MAS1L 116511 hgsc.bcm.edu GRCh37 6 29455532 29455532 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377127.3:c.148G>A p.Val50Ile p.V50I ENST00000377127 NM_052967.1 50 Gtc/Atc 0 Missense_Mutation C 19 MAS1L SNP 6 C T 29563511 29563511 Baylor MMP1 4312 hgsc.bcm.edu GRCh37 11 102663432 102663432 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000315274.6:c.937G>C p.Glu313Gln p.E313Q ENST00000315274 NM_002421.3 313 Gag/Cag 0 Missense_Mutation C 29 MMP1 SNP 11 C G 102168642 102168642 Baylor MNAT1 4331 hgsc.bcm.edu GRCh37 14 61285490 61285490 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261245.4:c.612A>G p.Arg204= p.R204= ENST00000261245 NM_002431.3 204 agA/agG 0 Silent A 12 MNAT1 SNP 14 A G 60355243 60355243 Baylor NUPL1 9818 hgsc.bcm.edu GRCh37 13 25910372 25910372 + intron_variant Intron SNP C C A novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000381736.3:c.1436-702C>A *479* ENST00000381736 NM_014089.3 0 Missense_Mutation C 25 NUPL1 SNP 13 C A 24808372 24808372 Baylor OR5B17 219965 hgsc.bcm.edu GRCh37 11 58126179 58126179 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357377.3:c.364G>A p.Ala122Thr p.A122T ENST00000357377 NM_001005489.1 122 Gca/Aca 0 Missense_Mutation C 27 OR5B17 SNP 11 C T 57882755 57882755 Baylor PDCL2 132954 hgsc.bcm.edu GRCh37 4 56428648 56428648 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295645.4:c.494T>G p.Phe165Cys p.F165C ENST00000295645 NM_152401.2 165 tTt/tGt 0 Missense_Mutation A 1 PDCL2 SNP 4 A C 56123405 56123405 Baylor PRPF6 24148 hgsc.bcm.edu GRCh37 20 62641616 62641616 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000266079.4:c.1250A>T p.Glu417Val p.E417V ENST00000266079 NM_012469.3 417 gAa/gTa 0 Missense_Mutation A 9 PRPF6 SNP 20 A T 62112060 62112060 Baylor RBM10 8241 hgsc.bcm.edu GRCh37 X 47028833 47028833 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000329236.7:c.137G>A p.Arg46His p.R46H ENST00000329236 NM_001204466.1 46 cGc/cAc 0 Missense_Mutation G 38 RBM10 SNP 23 G A 46913777 46913777 Baylor SLC2A14 144195 hgsc.bcm.edu GRCh37 12 7970608 7970608 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000543909.1:c.1163T>G p.Phe388Cys p.F388C ENST00000543909 NM_001286233.1 388 tTt/tGt 0 Missense_Mutation A 1 SLC2A14 SNP 12 A C 7861875 7861875 Baylor SLK 9748 hgsc.bcm.edu GRCh37 10 105762745 105762745 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369755.3:c.1809A>G p.Lys603= p.K603= ENST00000369755 NM_014720.2 603 aaA/aaG 0 Silent A 3 SLK SNP 10 A G 105752735 105752735 Baylor SNX12 29934 hgsc.bcm.edu GRCh37 X 70282710 70282710 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374274.3:c.255T>C p.Asp85= p.D85= ENST00000374274 NM_001256188.1 85 gaT/gaC 0 Silent A 16 SNX12 SNP 23 A G 70199435 70199435 Baylor SON 6651 hgsc.bcm.edu GRCh37 21 34948696 34948696 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356577.4:c.7247del p.Arg2416AsnfsTer8 p.R2416Nfs*8 ENST00000356577 NM_138927.2 2416 aGa/aa 0 Frame_Shift_Del G 33 SON DEL 21 G - 33870566 33870566 Baylor SREBF2 6721 hgsc.bcm.edu GRCh37 22 42269825 42269825 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361204.4:c.891C>G p.Thr297= p.T297= ENST00000361204 NM_004599.3 297 acC/acG 0 Silent C 21 SREBF2 SNP 22 C G 40599771 40599771 Baylor TDRD7 23424 hgsc.bcm.edu GRCh37 9 100190856 100190856 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000355295.4:c.109G>C p.Asp37His p.D37H ENST00000355295 NM_014290.2 37 Gac/Cac 0 Missense_Mutation G 33 TDRD7 SNP 9 G C 99230677 99230677 Baylor TMEM132D 121256 hgsc.bcm.edu GRCh37 12 129558988 129558988 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000422113.2:c.2732A>T p.Lys911Ile p.K911I ENST00000422113 NM_133448.2 911 aAa/aTa 0 Missense_Mutation T 64 TMEM132D SNP 12 T A 128124941 128124941 Baylor TNR 7143 hgsc.bcm.edu GRCh37 1 175372583 175372583 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367674.2:c.669C>T p.Ser223= p.S223= ENST00000367674 223 agC/agT 0 Silent G 38 TNR SNP 1 G A 173639206 173639206 Baylor TTC33 23548 hgsc.bcm.edu GRCh37 5 40716408 40716408 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000337702.4:c.628G>T p.Glu210Ter p.E210* ENST00000337702 NM_012382.2 210 Gag/Tag 0 Nonsense_Mutation C 29 TTC33 SNP 5 C A 40752165 40752165 Baylor VPS13A 23230 hgsc.bcm.edu GRCh37 9 79929533 79929533 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360280.3:c.4365C>G p.Asn1455Lys p.N1455K ENST00000360280 NM_033305.2 1455 aaC/aaG 0 Missense_Mutation C 20 VPS13A SNP 9 C G 79119353 79119353 Baylor XRN1 54464 hgsc.bcm.edu GRCh37 3 142140334 142140334 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264951.4:c.1019T>A p.Leu340His p.L340H ENST00000264951 NM_019001.3 340 cTt/cAt 0 Missense_Mutation A 3 XRN1 SNP 3 A T 143623024 143623024 Baylor ZFP69 339559 hgsc.bcm.edu GRCh37 1 40945126 40945126 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-23-1023-01 TCGA-23-1023-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372706.1:c.93del p.Trp32GlyfsTer4 p.W32Gfs*4 ENST00000372706 31 ctG/ct 0 Frame_Shift_Del G 48 ZNF642 DEL 1 G - 40717713 40717713 Baylor ACAT2 39 hgsc.bcm.edu GRCh37 6 160183960 160183960 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367048.4:c.65A>G p.Asn22Ser p.N22S ENST00000367048 NM_005891.2 22 aAt/aGt 0 Missense_Mutation A 4 ACAT2 SNP 6 A G 160103950 160103950 Baylor AP1B1 162 hgsc.bcm.edu GRCh37 22 29737638 29737638 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357586.2:c.1648G>A p.Glu550Lys p.E550K ENST00000357586 NM_001127.3 550 Gaa/Aaa 0 Missense_Mutation C 29 AP1B1 SNP 22 C T 28067638 28067638 Baylor BCL9L 283149 hgsc.bcm.edu GRCh37 11 118771885 118771885 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000334801.3:c.2567A>T p.Tyr856Phe p.Y856F ENST00000334801 NM_182557.2 856 tAc/tTc 0 Missense_Mutation T 57 BCL9L SNP 11 T A 118277095 118277095 Baylor BMP5 653 hgsc.bcm.edu GRCh37 6 55739403 55739403 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000370830.3:c.261C>A p.Ala87= p.A87= ENST00000370830 NM_021073.2 87 gcC/gcA 0 Silent G 47 BMP5 SNP 6 G T 55847362 55847362 Baylor RRNAD1 51093 hgsc.bcm.edu GRCh37 1 156706497 156706497 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368216.4:c.1380G>A p.Lys460= p.K460= ENST00000368216 NM_015997.3 460 aaG/aaA 0 Silent G 33 C1orf66 SNP 1 G A 154973121 154973121 Baylor CATSPER1 117144 hgsc.bcm.edu GRCh37 11 65788337 65788337 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000312106.5:c.1872C>T p.Phe624= p.F624= ENST00000312106 NM_053054.3 624 ttC/ttT 0 Silent G 45 CATSPER1 SNP 11 G A 65544913 65544913 Baylor CCL7 6354 hgsc.bcm.edu GRCh37 17 32598200 32598200 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000378569.2:c.112T>A p.Phe38Ile p.F38I ENST00000378569 NM_006273.3 38 Ttt/Att 0 Missense_Mutation T 52 CCL7 SNP 17 T A 29622313 29622313 Baylor CREBBP 1387 hgsc.bcm.edu GRCh37 16 3790512 3790512 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262367.5:c.4021C>T p.Arg1341Ter p.R1341* ENST00000262367 NM_004380.2 1341 Cga/Tga 0 Nonsense_Mutation G 39 CREBBP SNP 16 G A 3730513 3730513 Baylor CYLC1 1538 hgsc.bcm.edu GRCh37 X 83128420 83128420 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000329312.4:c.704C>A p.Ser235Ter p.S235* ENST00000329312 NM_021118.2 235 tCa/tAa 0 Nonsense_Mutation C 29 CYLC1 SNP 23 C A 83015076 83015076 Baylor DDHD1 80821 hgsc.bcm.edu GRCh37 14 53525224 53525225 + frameshift_variant Frame_Shift_Del DEL GT GT - novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 GT GT . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000323669.5:c.1962_1963del p.Leu654PhefsTer13 p.L654Ffs*13 ENST00000323669 NM_001160148.1 654 ttACta/ttta 0 Frame_Shift_Del GT 36 DDHD1 DEL 14 GT - 52594975 52594974 Baylor FASTKD1 79675 hgsc.bcm.edu GRCh37 2 170394536 170394536 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000453153.2:c.2061A>C p.Gln687His p.Q687H ENST00000453153 NM_024622.4 687 caA/caC 0 Missense_Mutation T 60 FASTKD1 SNP 2 T G 170102782 170102782 Baylor GPR176 11245 hgsc.bcm.edu GRCh37 15 40093373 40093373 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000561100.1:c.1508G>T p.Arg503Ile p.R503I ENST00000561100 NM_007223.2 503 aGa/aTa 0 Missense_Mutation C 32 GPR176 SNP 15 C A 37880665 37880665 Baylor HCN4 10021 hgsc.bcm.edu GRCh37 15 73617477 73617477 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261917.3:c.1797G>A p.Ala599= p.A599= ENST00000261917 NM_005477.2 599 gcG/gcA 0 Silent C 23 HCN4 SNP 15 C T 71404530 71404530 Baylor HPGD 3248 hgsc.bcm.edu GRCh37 4 175439136 175439136 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000296522.6:c.310C>T p.Leu104= p.L104= ENST00000296522 NM_001256307.1 104 Ctg/Ttg 0 Silent G 33 HPGD SNP 4 G A 175675711 175675711 Baylor LPAR3 23566 hgsc.bcm.edu GRCh37 1 85279814 85279814 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000440886.1:c.777G>A p.Leu259= p.L259= ENST00000440886 259 ctG/ctA 0 Silent C 25 LPAR3 SNP 1 C T 85052402 85052402 Baylor MAS1L 116511 hgsc.bcm.edu GRCh37 6 29455352 29455352 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000377127.3:c.328G>T p.Val110Leu p.V110L ENST00000377127 NM_052967.1 110 Gta/Tta 0 Missense_Mutation C 18 MAS1L SNP 6 C A 29563331 29563331 Baylor MCM3AP 8888 hgsc.bcm.edu GRCh37 21 47655329 47655329 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000397708.1:c.5796G>A p.Met1932Ile p.M1932I ENST00000397708 1932 atG/atA 0 Missense_Mutation C 29 MCM3AP SNP 21 C T 46479757 46479757 Baylor MRPS22 56945 hgsc.bcm.edu GRCh37 3 139069895 139069895 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000495075.1:c.725A>G p.Tyr242Cys p.Y242C ENST00000495075 242 tAt/tGt 0 Missense_Mutation A 16 MRPS22 SNP 3 A G 140552585 140552585 Baylor MYH2 4620 hgsc.bcm.edu GRCh37 17 10435046 10435046 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000245503.5:c.2601C>T p.Asp867= p.D867= ENST00000245503 NM_017534.5 867 gaC/gaT 0 Silent G 40 MYH2 SNP 17 G A 10375771 10375771 Baylor NHS 4810 hgsc.bcm.edu GRCh37 X 17750349 17750349 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000380060.3:c.4658C>T p.Ser1553Phe p.S1553F ENST00000380060 NM_198270.2 1553 tCc/tTc 0 Missense_Mutation C 30 NHS SNP 23 C T 17660270 17660270 Baylor NKAPL 222698 hgsc.bcm.edu GRCh37 6 28228152 28228152 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000343684.3:c.1003G>A p.Glu335Lys p.E335K ENST00000343684 NM_001007531.2 335 Gaa/Aaa 0 Missense_Mutation G 45 NKAPL SNP 6 G A 28336131 28336131 Baylor OPTN 10133 hgsc.bcm.edu GRCh37 10 13166082 13166082 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000378748.3:c.970G>C p.Glu324Gln p.E324Q ENST00000378748 NM_001008211.1 324 Gag/Cag 0 Missense_Mutation G 45 OPTN SNP 10 G C 13206088 13206088 Baylor OR10H2 26538 hgsc.bcm.edu GRCh37 19 15839078 15839078 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000305899.3:c.225G>A p.Val75= p.V75= ENST00000305899 NM_013939.2 75 gtG/gtA 0 Silent G 47 OR10H2 SNP 19 G A 15700078 15700078 Baylor OR2B11 127623 hgsc.bcm.edu GRCh37 1 247615261 247615261 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000318749.6:c.24del p.Leu9Ter p.L9* ENST00000318749 NM_001004492.1 8 ttC/tt 0 Frame_Shift_Del G 33 OR2B11 DEL 1 G - 245681884 245681884 Baylor PKHD1 5314 hgsc.bcm.edu GRCh37 6 51732836 51732836 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371117.3:c.7558C>T p.His2520Tyr p.H2520Y ENST00000371117 NM_138694.3 2520 Cat/Tat 0 Missense_Mutation G 45 PKHD1 SNP 6 G A 51840795 51840795 Baylor SLC12A3 6559 hgsc.bcm.edu GRCh37 16 56926038 56926038 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000438926.2:c.2412C>A p.Ser804Arg p.S804R ENST00000438926 NM_001126108.1 804 agC/agA 0 Missense_Mutation C 27 SLC12A3 SNP 16 C A 55483539 55483539 Baylor SLC30A8 169026 hgsc.bcm.edu GRCh37 8 118170071 118170071 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000456015.2:c.560C>T p.Ala187Val p.A187V ENST00000456015 NM_173851.2 187 gCg/gTg 0 Missense_Mutation C 27 SLC30A8 SNP 8 C T 118239252 118239252 Baylor STC2 8614 hgsc.bcm.edu GRCh37 5 172755131 172755131 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000265087.4:c.66G>C p.Ala22= p.A22= ENST00000265087 NM_003714.2 22 gcG/gcC 0 Silent C 27 STC2 SNP 5 C G 172687737 172687737 Baylor TNFAIP3 7128 hgsc.bcm.edu GRCh37 6 138202336 138202336 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000237289.4:c.2253G>A p.Glu751= p.E751= ENST00000237289 NM_001270507.1 751 gaG/gaA 0 Silent G 34 TNFAIP3 SNP 6 G A 138244029 138244029 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7579311 7579311 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.375+1G>T p.X125_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 18 TP53 SNP 17 C A 7520036 7520036 Baylor ZFYVE9 9372 hgsc.bcm.edu GRCh37 1 52798516 52798516 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1631-01 TCGA-25-1631-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000287727.3:c.3515A>T p.His1172Leu p.H1172L ENST00000287727 NM_004799.3 1172 cAt/cTt 0 Missense_Mutation A 8 ZFYVE9 SNP 1 A T 52571104 52571104 Baylor PANK4 55229 broad.mit.edu GRCh37 1 2449637 2449637 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000378466.3:c.1184A>T p.Glu395Val p.E395V ENST00000378466 NM_018216.1 395 gAg/gTg 0 Missense_Mutation T 54 PANK4 SNP 1 T A 2439497 2439497 Broad MMEL1 79258 broad.mit.edu GRCh37 1 2525350 2525350 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000378412.3:c.1770G>T p.Gln590His p.Q590H ENST00000378412 590 caG/caT 0 Missense_Mutation C 28 MMEL1 SNP 1 C A 2515210 2515210 Broad ZBTB17 7709 broad.mit.edu GRCh37 1 16273503 16273503 + synonymous_variant Silent SNP G G C novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000375743.4:c.321C>G p.Ala107= p.A107= ENST00000375743 NM_003443.2 107 gcC/gcG 0 Silent G 35 ZBTB17 SNP 1 G C 16146090 16146090 Broad CSMD2 114784 broad.mit.edu GRCh37 1 33998804 33998804 + synonymous_variant,NMD_transcript_variant Silent SNP C C T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000241312.4:c.9585G>A p.Thr3195= p.T3195= ENST00000241312 3195 acG/acA 0 Silent C 27 CSMD2 SNP 1 C T 33771391 33771391 Broad MTF1 4520 broad.mit.edu GRCh37 1 38305705 38305705 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000373036.4:c.534C>T p.Gly178= p.G178= ENST00000373036 NM_005955.2 178 ggC/ggT 0 Silent G 46 MTF1 SNP 1 G A 38078292 38078292 Broad LEPRE1 64175 broad.mit.edu GRCh37 1 43213441 43213441 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000236040.4:c.1867G>A p.Asp623Asn p.D623N ENST00000236040 NM_001243246.1 623 Gat/Aat 0 Missense_Mutation C 31 LEPRE1 SNP 1 C T 42986028 42986028 Broad GLIS1 148979 broad.mit.edu GRCh37 1 53972319 53972320 + missense_variant Missense_Mutation DNP GT GT TG novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000312233.2:c.1835_1836delinsCA p.His612Pro p.H612P ENST00000312233 NM_147193.2 612 cAC/cCA 0 Missense_Mutation GT 48 GLIS1 DNP 1 GT TG 53744908 53744907 Broad C1orf85 112770 broad.mit.edu GRCh37 1 156264687 156264687 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000362007.1:c.241G>A p.Val81Ile p.V81I ENST00000362007 NM_001256609.1 81 Gta/Ata 0 Missense_Mutation C 18 C1orf85 SNP 1 C T 154531311 154531311 Broad FCRL5 83416 broad.mit.edu GRCh37 1 157490961 157490961 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000361835.3:c.2361T>C p.Phe787= p.F787= ENST00000361835 NM_001195388.1 787 ttT/ttC 0 Silent A 9 FCRL5 SNP 1 A G 155757585 155757585 Broad HSD17B7 51478 broad.mit.edu GRCh37 1 162773313 162773313 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000254521.3:c.735G>A p.Pro245= p.P245= ENST00000254521 NM_016371.2 245 ccG/ccA 0 Silent G 39 HSD17B7 SNP 1 G A 161039937 161039937 Broad PM20D1 148811 broad.mit.edu GRCh37 1 205814514 205814514 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000367136.4:c.428G>C p.Gly143Ala p.G143A ENST00000367136 NM_152491.4 143 gGg/gCg 0 Missense_Mutation C 22 PM20D1 SNP 1 C G 204081137 204081137 Broad MUC6 4588 broad.mit.edu GRCh37 11 1018575 1018575 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000421673.2:c.4226C>A p.Pro1409Gln p.P1409Q ENST00000421673 NM_005961.2 1409 cCg/cAg 0 Missense_Mutation G 39 MUC6 SNP 11 G T 1008575 1008575 Broad KCNQ1 3784 broad.mit.edu GRCh37 11 2869021 2869021 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000155840.5:c.1819G>C p.Ala607Pro p.A607P ENST00000155840 NM_000218.2 607 Gca/Cca 0 Missense_Mutation G 42 KCNQ1 SNP 11 G C 2825597 2825597 Broad OR51S1 119692 broad.mit.edu GRCh37 11 4870049 4870049 + synonymous_variant Silent SNP C C G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000322101.2:c.390G>C p.Arg130= p.R130= ENST00000322101 NM_001004758.1 130 cgG/cgC 0 Silent C 22 OR51S1 SNP 11 C G 4826625 4826625 Broad OR2AG2 338755 broad.mit.edu GRCh37 11 6789379 6789379 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000338569.2:c.810A>C p.Gln270His p.Q270H ENST00000338569 NM_001004490.1 270 caA/caC 0 Missense_Mutation T 56 OR2AG2 SNP 11 T G 6745955 6745955 Broad NUP160 23279 broad.mit.edu GRCh37 11 47869814 47869814 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000378460.2:c.159C>T p.Arg53= p.R53= ENST00000378460 NM_015231.1 53 cgC/cgT 0 Silent G 38 NUP160 SNP 11 G A 47826390 47826390 Broad OR5D14 219436 broad.mit.edu GRCh37 11 55563433 55563433 + synonymous_variant Silent SNP T T C novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000335605.1:c.402T>C p.Tyr134= p.Y134= ENST00000335605 NM_001004735.1 134 taT/taC 0 Silent T 49 OR5D14 SNP 11 T C 55320009 55320009 Broad INTS5 80789 broad.mit.edu GRCh37 11 62416167 62416167 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000330574.2:c.1385T>C p.Leu462Pro p.L462P ENST00000330574 NM_030628.1 462 cTa/cCa 0 Missense_Mutation A 15 INTS5 SNP 11 A G 62172743 62172743 Broad ATG2A 23130 broad.mit.edu GRCh37 11 64675292 64675294 + missense_variant Missense_Mutation TNP CTG CTG TCA novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000377264.3:c.2433_2435delinsTGA p.Ser812Asp p.S812D ENST00000377264 NM_015104.2 811 tgCAGc/tgTGAc 0 Missense_Mutation CTG 28 ATG2A TNP 11 CTG TCA 64431870 64431868 Broad PITPNM1 9600 broad.mit.edu GRCh37 11 67265653 67265654 + missense_variant Missense_Mutation DNP GC GC TG novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000356404.3:c.1624_1625delinsCA p.Ala542His p.A542H ENST00000356404 NM_001130848.1 542 GCc/CAc 0 Missense_Mutation GC 42 PITPNM1 DNP 11 GC TG 67022230 67022229 Broad SIDT2 51092 broad.mit.edu GRCh37 11 117052204 117052204 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000324225.4:c.256C>A p.Gln86Lys p.Q86K ENST00000324225 NM_001040455.1 86 Cag/Aag 0 Missense_Mutation C 21 SIDT2 SNP 11 C A 116557414 116557414 Broad BACE1 23621 broad.mit.edu GRCh37 11 117186334 117186334 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000313005.6:c.178T>C p.Phe60Leu p.F60L ENST00000313005 NM_138971.3 60 Ttt/Ctt 0 Missense_Mutation A 3 BACE1 SNP 11 A G 116691544 116691544 Broad ABCB9 23457 broad.mit.edu GRCh37 12 123414661 123414661 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000542678.1:c.2098C>T p.Arg700Trp p.R700W ENST00000542678 700 Cgg/Tgg 0 Missense_Mutation G 39 ABCB9 SNP 12 G A 121980614 121980614 Broad CENPJ 55835 broad.mit.edu GRCh37 13 25480632 25480632 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000381884.4:c.1544C>A p.Thr515Lys p.T515K ENST00000381884 NM_018451.4 515 aCa/aAa 0 Missense_Mutation G 48 CENPJ SNP 13 G T 24378632 24378632 Broad PCDH17 27253 broad.mit.edu GRCh37 13 58209190 58209190 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000377918.3:c.2510C>A p.Thr837Asn p.T837N ENST00000377918 NM_001040429.2 837 aCc/aAc 0 Missense_Mutation C 18 PCDH17 SNP 13 C A 57107191 57107191 Broad KLHL1 57626 broad.mit.edu GRCh37 13 70681661 70681661 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000377844.4:c.171C>T p.Leu57= p.L57= ENST00000377844 NM_020866.2 57 ctC/ctT 0 Silent G 45 KLHL1 SNP 13 G A 69579662 69579662 Broad TNFSF13B 10673 broad.mit.edu GRCh37 13 108922505 108922505 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000375887.4:c.262G>C p.Ala88Pro p.A88P ENST00000375887 NM_006573.4 88 Gcg/Ccg 0 Missense_Mutation G 38 TNFSF13B SNP 13 G C 107720506 107720506 Broad ALKBH1 8846 broad.mit.edu GRCh37 14 78161112 78161112 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000216489.3:c.424G>A p.Asp142Asn p.D142N ENST00000216489 NM_006020.2 142 Gat/Aat 0 Missense_Mutation C 32 ALKBH1 SNP 14 C T 77230865 77230865 Broad PLCB2 5330 broad.mit.edu GRCh37 15 40580971 40580971 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000260402.3:c.3503T>G p.Leu1168Arg p.L1168R ENST00000260402 NM_004573.2 1168 cTg/cGg 0 Missense_Mutation A 7 PLCB2 SNP 15 A C 38368263 38368263 Broad WDR90 197335 broad.mit.edu GRCh37 16 703655 703656 + missense_variant Missense_Mutation DNP TT TT CC novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000293879.4:c.1364_1365delinsCC p.Val455Ala p.V455A ENST00000293879 455 gTT/gCC 0 Missense_Mutation TT 60 WDR90 DNP 16 TT CC 643657 643656 Broad RNPS1 10921 broad.mit.edu GRCh37 16 2305708 2305708 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000565678.1:c.696G>T p.Glu232Asp p.E232D ENST00000565678 NM_001286625.1 232 gaG/gaT 0 Missense_Mutation C 32 RNPS1 SNP 16 C A 2245709 2245709 Broad PAQR4 124222 broad.mit.edu GRCh37 16 3021896 3021897 + missense_variant Missense_Mutation DNP GG GG CT novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000318782.8:c.769_770delinsCT p.Gly257Leu p.G257L ENST00000318782 NM_152341.3 257 GGc/CTc 0 Missense_Mutation GG 39 PAQR4 DNP 16 GG CT 2961898 2961897 Broad KATNB1 10300 broad.mit.edu GRCh37 16 57787110 57787110 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000379661.3:c.977T>G p.Leu326Arg p.L326R ENST00000379661 NM_005886.2 326 cTg/cGg 0 Missense_Mutation T 55 KATNB1 SNP 16 T G 56344611 56344611 Broad METTL16 79066 broad.mit.edu GRCh37 17 2323627 2323627 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000263092.6:c.1326C>T p.Ala442= p.A442= ENST00000263092 NM_024086.3 442 gcC/gcT 0 Silent G 39 METT10D SNP 17 G A 2270377 2270377 Broad OR3A1 4994 broad.mit.edu GRCh37 17 3195235 3195235 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000323404.1:c.642G>A p.Met214Ile p.M214I ENST00000323404 NM_002550.2 214 atG/atA 0 Missense_Mutation C 21 OR3A1 SNP 17 C T 3141985 3141985 Broad CHRNB1 1140 broad.mit.edu GRCh37 17 7348475 7348475 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000306071.2:c.29T>C p.Leu10Pro p.L10P ENST00000306071 NM_000747.2 10 cTg/cCg 0 Missense_Mutation T 55 CHRNB1 SNP 17 T C 7289199 7289199 Broad KCNH6 81033 broad.mit.edu GRCh37 17 61601672 61601672 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000583023.1:c.249G>T p.Ala83= p.A83= ENST00000583023 NM_030779.3 83 gcG/gcT 0 Silent G 38 KCNH6 SNP 17 G T 58955404 58955404 Broad ANKRD12 23253 broad.mit.edu GRCh37 18 9208762 9208762 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000262126.4:c.412G>A p.Ala138Thr p.A138T ENST00000262126 NM_015208.4 138 Gca/Aca 0 Missense_Mutation G 42 ANKRD12 SNP 18 G A 9198762 9198762 Broad SMAD7 4092 broad.mit.edu GRCh37 18 46476315 46476315 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000262158.2:c.480C>A p.Cys160Ter p.C160* ENST00000262158 NM_001190821.1 160 tgC/tgA 0 Nonsense_Mutation G 46 SMAD7 SNP 18 G T 44730313 44730313 Broad SMARCA4 6597 broad.mit.edu GRCh37 19 11144525 11144526 + missense_variant Missense_Mutation DNP AG AG CA novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000344626.4:c.3857_3858delinsCA p.Glu1286Ala p.E1286A ENST00000344626 NM_003072.3 1286 gAG/gCA 0 Missense_Mutation AG 11 SMARCA4 DNP 19 AG CA 11005526 11005525 Broad AKAP8 10270 broad.mit.edu GRCh37 19 15483906 15483906 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000269701.2:c.617G>T p.Arg206Leu p.R206L ENST00000269701 NM_005858.3 206 cGc/cTc 0 Missense_Mutation C 27 AKAP8 SNP 19 C A 15344906 15344906 Broad ANO8 57719 broad.mit.edu GRCh37 19 17440630 17440630 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000159087.4:c.1340T>A p.Val447Asp p.V447D ENST00000159087 NM_020959.2 447 gTc/gAc 0 Missense_Mutation A 10 ANO8 SNP 19 A T 17301630 17301630 Broad KCNN1 3780 broad.mit.edu GRCh37 19 18084992 18084992 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000222249.9:c.295C>G p.Leu99Val p.L99V ENST00000222249 NM_002248.4 99 Ctc/Gtc 0 Missense_Mutation C 28 KCNN1 SNP 19 C G 17945992 17945992 Broad NUDT19 390916 broad.mit.edu GRCh37 19 33183390 33183391 + missense_variant Missense_Mutation DNP CG CG AC novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000397061.3:c.524_525delinsAC p.Pro175His p.P175H ENST00000397061 NM_001105570.1 175 cCG/cAC 0 Missense_Mutation CG 23 NUDT19 DNP 19 CG AC 37875231 37875230 Broad IRGQ 126298 broad.mit.edu GRCh37 19 44097194 44097194 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000422989.1:c.856A>C p.Thr286Pro p.T286P ENST00000422989 NM_001007561.2 286 Acc/Ccc 0 Missense_Mutation T 59 IRGQ SNP 19 T G 48789034 48789034 Broad FCAR 2204 broad.mit.edu GRCh37 19 55401079 55401079 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000355524.3:c.714C>T p.Leu238= p.L238= ENST00000355524 NM_002000.2 238 ctC/ctT 0 Missense_Mutation C 31 FCAR SNP 19 C T 60092891 60092891 Broad BRSK1 84446 broad.mit.edu GRCh37 19 55814187 55814187 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000309383.1:c.980G>A p.Gly327Asp p.G327D ENST00000309383 NM_032430.1 327 gGc/gAc 0 Missense_Mutation G 42 BRSK1 SNP 19 G A 60505999 60505999 Broad NLRP5 126206 broad.mit.edu GRCh37 19 56538441 56538441 + missense_variant Missense_Mutation SNP C C T rs45627733 Unknown TCGA-04-1342-01 TCGA-04-1342-11 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000390649.3:c.842C>T p.Thr281Met p.T281M ENST00000390649 NM_153447.4 281 aCg/aTg 0 Missense_Mutation C 19 NLRP5 SNP 19 C T 61230253 61230253 Broad STON1-GTF2A1L 286749 broad.mit.edu GRCh37 2 48873885 48873885 + missense_variant Missense_Mutation SNP G G A rs61754876 Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000394754.1:c.2794G>A p.Val932Met p.V932M ENST00000394754 NM_172311.2 932 Gtg/Atg 0 Missense_Mutation G 40 STON1-GTF2A1L SNP 2 G A 48727389 48727389 Broad SNRNP200 23020 broad.mit.edu GRCh37 2 96957584 96957584 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000323853.5:c.2215C>T p.Arg739Trp p.R739W ENST00000323853 NM_014014.4 739 Cgg/Tgg 0 Missense_Mutation G 39 SNRNP200 SNP 2 G A 96321311 96321311 Broad CNNM3 26505 broad.mit.edu GRCh37 2 97482930 97482931 + missense_variant Missense_Mutation DNP AA AA CT novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000305510.3:c.916_917delinsCT p.Lys306Leu p.K306L ENST00000305510 NM_017623.4 306 AAg/CTg 0 Missense_Mutation AA 5 CNNM3 DNP 2 AA CT 96846658 96846657 Broad MARS2 92935 broad.mit.edu GRCh37 2 198571596 198571596 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000282276.6:c.1467G>T p.Arg489Ser p.R489S ENST00000282276 NM_138395.3 489 agG/agT 0 Missense_Mutation G 42 MARS2 SNP 2 G T 198279841 198279841 Broad SLCO4A1 28231 broad.mit.edu GRCh37 20 61297799 61297799 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000217159.1:c.1344G>C p.Arg448Ser p.R448S ENST00000217159 NM_016354.3 448 agG/agC 0 Missense_Mutation G 42 SLCO4A1 SNP 20 G C 60768244 60768244 Broad DGCR2 9993 broad.mit.edu GRCh37 22 19026556 19026556 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000263196.7:c.1475G>T p.Arg492Leu p.R492L ENST00000263196 NM_001184781.1 492 cGc/cTc 0 Missense_Mutation C 27 DGCR2 SNP 22 C A 17406556 17406556 Broad LZTR1 8216 broad.mit.edu GRCh37 22 21336711 21336712 + missense_variant Missense_Mutation DNP AG AG CA novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000215739.8:c.51_52delinsCA p.Gly18Ser p.G18S ENST00000215739 NM_006767.3 17 gcAGgc/gcCAgc 0 Missense_Mutation AG 7 LZTR1 DNP 22 AG CA 19666712 19666711 Broad MICALL1 85377 broad.mit.edu GRCh37 22 38320678 38320678 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000215957.6:c.1036G>T p.Glu346Ter p.E346* ENST00000215957 NM_033386.3 346 Gaa/Taa 0 Nonsense_Mutation G 37 MICALL1 SNP 22 G T 36650624 36650624 Broad CHKB 1120 broad.mit.edu GRCh37 22 51017932 51017933 + stop_gained Nonsense_Mutation DNP CA CA AC novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000406938.2:c.1035_1036delinsGT p.Tyr345_Ala346delinsTer p.Y345_A346delins* ENST00000406938 NM_005198.4 345 taTGct/taGTct 0 Nonsense_Mutation CA 25 CHKB DNP 22 CA AC 49364799 49364798 Broad GRIP2 80852 broad.mit.edu GRCh37 3 14536473 14536473 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000273083.3:n.2913C>T *971* ENST00000273083 0 Missense_Mutation G 38 GRIP2 SNP 3 G A 14511477 14511477 Broad SCN10A 6336 broad.mit.edu GRCh37 3 38802218 38802218 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000449082.2:c.904C>T p.Arg302Ter p.R302* ENST00000449082 NM_006514.2 302 Cga/Tga 0 Nonsense_Mutation G 38 SCN10A SNP 3 G A 38777222 38777222 Broad LAMB2 3913 broad.mit.edu GRCh37 3 49161168 49161168 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000418109.1:c.3790G>A p.Glu1264Lys p.E1264K ENST00000418109 NM_002292.3 1264 Gag/Aag 0 Missense_Mutation C 30 LAMB2 SNP 3 C T 49136172 49136172 Broad BSN 8927 broad.mit.edu GRCh37 3 49688124 49688124 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000296452.4:c.1598C>T p.Pro533Leu p.P533L ENST00000296452 NM_003458.3 533 cCg/cTg 0 Missense_Mutation C 23 BSN SNP 3 C T 49663128 49663128 Broad ZNF721 170960 broad.mit.edu GRCh37 4 436638 436638 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000511833.2:c.1618C>T p.Gln540Ter p.Q540* ENST00000511833 NM_133474.3 540 Cag/Tag 0 Nonsense_Mutation G 48 ZNF721 SNP 4 G A 426638 426638 Broad NELFA 7469 broad.mit.edu GRCh37 4 1985221 1985221 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000382882.3:c.1445G>T p.Cys482Phe p.C482F ENST00000382882 482 tGc/tTc 0 Missense_Mutation C 25 WHSC2 SNP 4 C A 1955019 1955019 Broad RAB28 9364 broad.mit.edu GRCh37 4 13383174 13383174 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000330852.5:c.436C>T p.Arg146Trp p.R146W ENST00000330852 NM_001017979.2 146 Cgg/Tgg 0 Missense_Mutation G 40 RAB28 SNP 4 G A 12992272 12992272 Broad KIT 3815 broad.mit.edu GRCh37 4 55604662 55604662 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000288135.5:c.2870T>C p.Ile957Thr p.I957T ENST00000288135 NM_000222.2 957 aTc/aCc 0 Missense_Mutation T 50 KIT SNP 4 T C 55299419 55299419 Broad UGT2B17 7367 broad.mit.edu GRCh37 4 69434111 69434111 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000317746.2:c.92C>T p.Thr31Ile p.T31I ENST00000317746 NM_001077.3 31 aCa/aTa 0 Missense_Mutation G 48 UGT2B17 SNP 4 G A 69116706 69116706 Broad SLC12A7 10723 broad.mit.edu GRCh37 5 1076888 1076889 + stop_gained Nonsense_Mutation DNP CC CC GT novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000264930.5:c.1668_1669delinsAC p.Trp556_Ala557delinsTer p.W556_A557delins* ENST00000264930 NM_006598.2 556 tgGGcg/tgACcg 0 Nonsense_Mutation CC 26 SLC12A7 DNP 5 CC GT 1129889 1129888 Broad MTRR 4552 broad.mit.edu GRCh37 5 7897055 7897055 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000264668.2:c.1836G>T p.Arg612Ser p.R612S ENST00000264668 NM_024010.2 612 agG/agT 0 Missense_Mutation G 43 MTRR SNP 5 G T 7950055 7950055 Broad ANKRD32 84250 broad.mit.edu GRCh37 5 94031004 94031004 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000265140.5:c.3164T>C p.Met1055Thr p.M1055T ENST00000265140 NM_032290.3 1055 aTg/aCg 0 Missense_Mutation T 51 ANKRD32 SNP 5 T C 94056760 94056760 Broad WDR36 134430 broad.mit.edu GRCh37 5 110446633 110446633 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000506538.2:c.1756A>G p.Met586Val p.M586V ENST00000506538 NM_139281.2 586 Atg/Gtg 0 Missense_Mutation A 8 WDR36 SNP 5 A G 110474532 110474532 Broad CAMK4 814 broad.mit.edu GRCh37 5 110819728 110819728 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000282356.4:c.986C>A p.Ala329Glu p.A329E ENST00000282356 NM_001744.4 329 gCg/gAg 0 Missense_Mutation C 27 CAMK4 SNP 5 C A 110847627 110847627 Broad REEP2 51308 broad.mit.edu GRCh37 5 137774925 137774925 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000254901.5:c.28G>A p.Val10Met p.V10M ENST00000254901 10 Gtg/Atg 0 Missense_Mutation G 44 REEP2 SNP 5 G A 137802824 137802824 Broad PCDHA11 56138 broad.mit.edu GRCh37 5 140249647 140249647 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000398640.2:c.959A>G p.Gln320Arg p.Q320R ENST00000398640 NM_018902.3 320 cAg/cGg 0 Missense_Mutation A 7 PCDHA11 SNP 5 A G 140229831 140229831 Broad PCDHB14 56122 broad.mit.edu GRCh37 5 140604613 140604613 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000239449.4:c.1536C>G p.His512Gln p.H512Q ENST00000239449 NM_018934.2 512 caC/caG 0 Missense_Mutation C 18 PCDHB14 SNP 5 C G 140584797 140584797 Broad SH3PXD2B 285590 broad.mit.edu GRCh37 5 171765936 171765936 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000311601.5:c.2173T>G p.Ser725Ala p.S725A ENST00000311601 NM_001017995.2 725 Tcc/Gcc 0 Missense_Mutation A 9 SH3PXD2B SNP 5 A C 171698541 171698541 Broad KCND2 3751 broad.mit.edu GRCh37 7 119915568 119915568 + synonymous_variant Silent SNP C C G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000331113.4:c.882C>G p.Val294= p.V294= ENST00000331113 NM_012281.2 294 gtC/gtG 0 Silent C 32 KCND2 SNP 7 C G 119702804 119702804 Broad FEZF1 389549 broad.mit.edu GRCh37 7 121943234 121943234 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000442488.2:c.933G>A p.Thr311= p.T311= ENST00000442488 NM_001160264.1 311 acG/acA 0 Silent C 27 FEZF1 SNP 7 C T 121730470 121730470 Broad GDF6 392255 broad.mit.edu GRCh37 8 97172702 97172702 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000287020.5:c.219C>T p.Asp73= p.D73= ENST00000287020 NM_001001557.2 73 gaC/gaT 0 Silent G 40 GDF6 SNP 8 G A 97241878 97241878 Broad PLEC 5339 broad.mit.edu GRCh37 8 145006392 145006392 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000322810.4:c.2399G>A p.Arg800Gln p.R800Q ENST00000322810 NM_201380.2 800 cGg/cAg 0 Missense_Mutation C 23 PLEC SNP 8 C T 145078380 145078380 Broad S1PR3 1903 broad.mit.edu GRCh37 9 91617112 91617112 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000375846.3:c.997G>C p.Asp333His p.D333H ENST00000375846 333 Gac/Cac 0 Missense_Mutation G 37 S1PR3 SNP 9 G C 90806932 90806932 Broad C9orf129 445577 broad.mit.edu GRCh37 9 96081452 96081452 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000375419.1:c.370A>C p.Thr124Pro p.T124P ENST00000375419 NM_001098808.1 124 Aca/Cca 0 Missense_Mutation T 57 C9orf129 SNP 9 T G 95121273 95121273 Broad PAPPA 5069 broad.mit.edu GRCh37 9 119065126 119065126 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000328252.3:c.3044C>G p.Thr1015Arg p.T1015R ENST00000328252 NM_002581.3 1015 aCg/aGg 0 Missense_Mutation C 19 PAPPA SNP 9 C G 118104947 118104947 Broad TLR4 7099 broad.mit.edu GRCh37 9 120475251 120475251 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000355622.6:c.845A>G p.Asn282Ser p.N282S ENST00000355622 NM_138557.2 282 aAt/aGt 0 Missense_Mutation A 4 TLR4 SNP 9 A G 119515072 119515072 Broad C9orf16 79095 broad.mit.edu GRCh37 9 130925891 130925891 + synonymous_variant Silent SNP C C G novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000372994.1:c.249C>G p.Pro83= p.P83= ENST00000372994 NM_024112.3 83 ccC/ccG 0 Silent C 24 C9orf16 SNP 9 C G 129965712 129965712 Broad C9orf114 51490 broad.mit.edu GRCh37 9 131589348 131589348 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown x x x ENST00000361256.5:c.331G>A p.Glu111Lys p.E111K ENST00000361256 NM_016390.3 111 Gag/Aag 0 Missense_Mutation C 29 C9orf114 SNP 9 C T 130629169 130629169 Broad L1CAM 3897 broad.mit.edu GRCh37 X 153129865 153129865 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000370060.1:c.3234G>A p.Trp1078Ter p.W1078* ENST00000370060 NM_001278116.1 1078 tgG/tgA 0 Nonsense_Mutation C 22 L1CAM SNP 23 C T 152783059 152783059 Broad WDR81 124997 broad.mit.edu GRCh37 17 1631515 1631521 + frameshift_variant Frame_Shift_Del DEL GGGCTCT GGGCTCT - novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000409644.1:c.3262_3268del p.Gly1088MetfsTer2 p.G1088Mfs*2 ENST00000409644 NM_001163809.1 1088 GGGCTCTat/at 0 Frame_Shift_Del GGGCTCT 39 WDR81 DEL 17 - - 1578271 1578265 Broad MCM5 4174 broad.mit.edu GRCh37 22 35817330 35817332 + inframe_deletion In_Frame_Del DEL CGC CGC - novel Unknown TCGA-04-1342-01 TCGA-04-1342-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000216122.4:c.1852_1854del p.Arg618del p.R618del ENST00000216122 NM_006739.3 618 CGC/- 0 In_Frame_Del CGC 27 MCM5 DEL 22 - CGC 34147332 34147330 Broad ANXA7 310 hgsc.bcm.edu GRCh37 10 75138681 75138681 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000372919.4:c.1332C>T p.Val444= p.V444= ENST00000372919 NM_004034.2 444 gtC/gtT 0 Silent G 45 ANXA7 SNP 10 G A 74808687 74808687 Baylor ARHGAP25 9938 hgsc.bcm.edu GRCh37 2 69053251 69053251 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000409202.3:c.1866G>T p.Glu622Asp p.E622D ENST00000409202 622 gaG/gaT 0 Missense_Mutation G 33 ARHGAP25 SNP 2 G T 68906755 68906755 Baylor CCDC93 54520 hgsc.bcm.edu GRCh37 2 118703104 118703104 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000376300.2:c.1350+1G>T p.X450_splice ENST00000376300 NM_019044.4 0 Splice_Site_SNP C 19 CCDC93 SNP 2 C A 118419574 118419574 Baylor COL22A1 169044 hgsc.bcm.edu GRCh37 8 139890548 139890548 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000303045.6:c.103G>A p.Val35Ile p.V35I ENST00000303045 NM_152888.1 35 Gtc/Atc 0 Missense_Mutation C 17 COL22A1 SNP 8 C T 139959730 139959730 Baylor DUOX2 50506 hgsc.bcm.edu GRCh37 15 45398834 45398834 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000603300.1:c.1837C>T p.Leu613= p.L613= ENST00000603300 NM_014080.4 613 Ctg/Ttg 0 Silent G 33 DUOX2 SNP 15 G A 43186126 43186126 Baylor EFCAB6 64800 hgsc.bcm.edu GRCh37 22 44011727 44011727 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262726.7:c.2541del p.Asn847LysfsTer11 p.N847Kfs*11 ENST00000262726 NM_022785.3 847 aaC/aa 0 Indel G- 48 EFCAB6 Indel 22 G- T 42343061 42343060 Baylor F13A1 2162 hgsc.bcm.edu GRCh37 6 6305671 6305671 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264870.3:c.232C>T p.Arg78Cys p.R78C ENST00000264870 NM_000129.3 78 Cgc/Tgc 0 Missense_Mutation G 39 F13A1 SNP 6 G A 6250670 6250670 Baylor F2 2147 hgsc.bcm.edu GRCh37 11 46741372 46741372 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000311907.5:c.200A>T p.Tyr67Phe p.Y67F ENST00000311907 NM_000506.3 67 tAc/tTc 0 Missense_Mutation A 14 F2 SNP 11 A T 46697948 46697948 Baylor FBXO28 23219 hgsc.bcm.edu GRCh37 1 224318212 224318212 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000366862.5:c.306G>A p.Leu102= p.L102= ENST00000366862 NM_015176.3 102 ttG/ttA 0 Silent G 45 FBXO28 SNP 1 G A 222384835 222384835 Baylor FKBP10 60681 hgsc.bcm.edu GRCh37 17 39977990 39977990 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000321562.4:c.1484T>G p.Phe495Cys p.F495C ENST00000321562 NM_021939.3 495 tTt/tGt 0 Missense_Mutation T 64 FKBP10 SNP 17 T G 37231516 37231516 Baylor FZD7 8324 hgsc.bcm.edu GRCh37 2 202900306 202900306 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000286201.1:c.936del p.Ala313ProfsTer55 p.A313Pfs*55 ENST00000286201 NM_003507.1 312 cgC/cg 0 Frame_Shift_Del C 27 FZD7 DEL 2 C - 202608551 202608551 Baylor HDAC6 10013 hgsc.bcm.edu GRCh37 X 48678567 48678567 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000334136.5:c.2242C>A p.Pro748Thr p.P748T ENST00000334136 748 Ccg/Acg 0 Missense_Mutation C 30 HDAC6 SNP 23 C A 48563511 48563511 Baylor GSE1 23199 hgsc.bcm.edu GRCh37 16 85667554 85667554 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000253458.7:c.42G>A p.Gly14= p.G14= ENST00000253458 NM_014615.3 14 ggG/ggA 0 Silent G 41 KIAA0182 SNP 16 G A 84225055 84225055 Baylor KIF14 9928 hgsc.bcm.edu GRCh37 1 200571080 200571080 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367350.4:c.2096G>A p.Arg699His p.R699H ENST00000367350 NM_014875.2 699 cGt/cAt 0 Missense_Mutation C 19 KIF14 SNP 1 C T 198837703 198837703 Baylor LRRC8C 84230 hgsc.bcm.edu GRCh37 1 90178828 90178828 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000370454.4:c.699G>T p.Lys233Asn p.K233N ENST00000370454 NM_032270.4 233 aaG/aaT 0 Missense_Mutation G 35 LRRC8C SNP 1 G T 89951416 89951416 Baylor MAML1 9794 hgsc.bcm.edu GRCh37 5 179200915 179200915 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000292599.3:c.2088C>A p.Pro696= p.P696= ENST00000292599 NM_014757.4 696 ccC/ccA 0 Silent C 23 MAML1 SNP 5 C A 179133521 179133521 Baylor MAP3K15 389840 hgsc.bcm.edu GRCh37 X 19380930 19380930 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000338883.4:c.3605A>G p.Gln1202Arg p.Q1202R ENST00000338883 NM_001001671.3 1202 cAg/cGg 0 Missense_Mutation T 55 MAP3K15 SNP 23 T C 19290851 19290851 Baylor MTMR3 8897 hgsc.bcm.edu GRCh37 22 30416522 30416522 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000401950.2:c.2874C>T p.Cys958= p.C958= ENST00000401950 NM_021090.3 958 tgC/tgT 0 Silent C 27 MTMR3 SNP 22 C T 28746522 28746522 Baylor MVP 9961 hgsc.bcm.edu GRCh37 16 29851523 29851523 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357402.5:c.934C>A p.Pro312Thr p.P312T ENST00000357402 NM_017458.3 312 Cca/Aca 0 Missense_Mutation C 26 MVP SNP 16 C A 29759024 29759024 Baylor MYH3 4621 hgsc.bcm.edu GRCh37 17 10535888 10535888 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000583535.1:c.4861G>T p.Gly1621Trp p.G1621W ENST00000583535 NM_002470.3 1621 Ggg/Tgg 0 Missense_Mutation C 22 MYH3 SNP 17 C A 10476613 10476613 Baylor NLRP12 91662 hgsc.bcm.edu GRCh37 19 54310888 54310888 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000324134.6:c.2104A>G p.Ser702Gly p.S702G ENST00000324134 NM_144687.3 702 Agt/Ggt 0 Missense_Mutation T 55 NLRP12 SNP 19 T C 59002700 59002700 Baylor PHIP 55023 hgsc.bcm.edu GRCh37 6 79655099 79655099 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000275034.4:c.4746A>G p.Glu1582= p.E1582= ENST00000275034 NM_017934.5 1582 gaA/gaG 0 Silent T 64 PHIP SNP 6 T C 79711818 79711818 Baylor PIK3R4 30849 hgsc.bcm.edu GRCh37 3 130425975 130425975 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000356763.3:c.2538A>G p.Arg846= p.R846= ENST00000356763 NM_014602.2 846 agA/agG 0 Silent T 62 PIK3R4 SNP 3 T C 131908665 131908665 Baylor PKD1L1 168507 hgsc.bcm.edu GRCh37 7 47852856 47852857 + frameshift_variant Frame_Shift_Del DEL AG AG - novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 AG AG . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000289672.2:c.7208_7209del p.Ser2403TyrfsTer5 p.S2403Yfs*5 ENST00000289672 NM_138295.3 2403 tCT/t 0 Frame_Shift_Del AG 15 PKD1L1 DEL 7 AG - 47819382 47819381 Baylor SIM1 6492 hgsc.bcm.edu GRCh37 6 100841521 100841521 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000369208.3:c.1412G>A p.Arg471Gln p.R471Q ENST00000369208 471 cGa/cAa 0 Missense_Mutation C 31 SIM1 SNP 6 C T 100948242 100948242 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578403 7578403 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.527G>T p.Cys176Phe p.C176F ENST00000269305 NM_001126112.2 176 tGc/tTc 0 Missense_Mutation C 25 TP53 SNP 17 A A 7519128 7519128 Baylor TTC3 7267 hgsc.bcm.edu GRCh37 21 38498393 38498393 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000399017.2:c.1247C>T p.Ala416Val p.A416V ENST00000399017 NM_003316.3 416 gCg/gTg 0 Missense_Mutation C 27 TTC3 SNP 21 C T 37420263 37420263 Baylor ZNF112 7771 hgsc.bcm.edu GRCh37 19 44832145 44832145 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000337401.4:c.2183A>G p.Lys728Arg p.K728R ENST00000337401 NM_001083335.1 728 aAg/aGg 0 Missense_Mutation T 56 ZFP112 SNP 19 T C 49523985 49523985 Baylor ZNF462 58499 hgsc.bcm.edu GRCh37 9 109687141 109687141 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1544-01 TCGA-24-1544-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000277225.5:c.948C>T p.Thr316= p.T316= ENST00000277225 316 acC/acT 0 Silent C 23 ZNF462 SNP 9 C T 108726962 108726962 Baylor MYOM2 9172 genome.wustl.edu GRCh37 8 2057292 2057292 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262113.4:c.3150T>C p.Ile1050= p.I1050= ENST00000262113 NM_003970.2 1050 atT/atC 0 Silent T 61 MYOM2 SNP 8 T C 2044699 2044699 WashU KCNA5 3741 genome.wustl.edu GRCh37 12 5153871 5153871 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000252321.3:c.558G>A p.Arg186= p.R186= ENST00000252321 NM_002234.3 186 cgG/cgA 0 Silent G 41 KCNA5 SNP 12 G A 5024132 5024132 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577539 7577539 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.742C>T p.Arg248Trp p.R248W ENST00000269305 NM_001126112.2 248 Cgg/Tgg 0 Missense_Mutation G 39 TP53 SNP 17 G A 7518264 7518264 WashU TUB 7275 genome.wustl.edu GRCh37 11 8122521 8122521 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000305253.4:c.1529T>A p.Phe510Tyr p.F510Y ENST00000305253 NM_003320.4 510 tTc/tAc 0 Missense_Mutation T 62 TUB SNP 11 T A 8079097 8079097 WashU BOD1L1 259282 genome.wustl.edu GRCh37 4 13612616 13612616 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000040738.5:c.1433C>T p.Ser478Leu p.S478L ENST00000040738 NM_148894.2 478 tCa/tTa 0 Missense_Mutation G 45 BOD1L SNP 4 G A 13221714 13221714 WashU POTEH 23784 genome.wustl.edu GRCh37 22 16287661 16287661 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000343518.6:c.225C>T p.Ser75= p.S75= ENST00000343518 NM_001136213.1 75 agC/agT 0 Silent G 38 POTEH SNP 22 G A 14667661 14667661 WashU PADI2 11240 genome.wustl.edu GRCh37 1 17401419 17401419 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375486.4:c.1481C>T p.Thr494Ile p.T494I ENST00000375486 NM_007365.2 494 aCc/aTc 0 Missense_Mutation G 44 PADI2 SNP 1 G A 17274006 17274006 WashU SLIT2 9353 genome.wustl.edu GRCh37 4 20493434 20493434 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000504154.1:c.826G>A p.Ala276Thr p.A276T ENST00000504154 NM_004787.1 276 Gcc/Acc 0 Missense_Mutation G 38 SLIT2 SNP 4 G A 20102532 20102532 WashU CES5AP1 genome.wustl.edu GRCh37 22 23712642 23712642 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000542510.1:n.460C>T *154* ENST00000542510 0 Missense_Mutation G 33 LOC649264 SNP 22 G A 22042642 22042642 WashU AP000344.4 645904 genome.wustl.edu GRCh37 22 23802596 23802596 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000454268.1:n.262C>T *88* ENST00000454268 0 Silent C 23 LOC645904 SNP 22 C T 22132596 22132596 WashU WNT4 54361 genome.wustl.edu GRCh37 1 22453784 22453784 + intron_variant Intron SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000290167.6:c.313+2325C>T *105* ENST00000290167 NM_030761.4 0 Silent G 39 WNT4 SNP 1 G A 22326371 22326371 WashU SLC17A6 57084 genome.wustl.edu GRCh37 11 22398211 22398211 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263160.3:c.1406A>G p.Lys469Arg p.K469R ENST00000263160 NM_020346.2 469 aAg/aGg 0 Missense_Mutation A 3 SLC17A6 SNP 11 A G 22354787 22354787 WashU PSMB5 5693 genome.wustl.edu GRCh37 14 23504059 23504059 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361611.6:c.32T>A p.Leu11Gln p.L11Q ENST00000361611 NM_002797.3 11 cTa/cAa 0 Missense_Mutation A 15 PSMB5 SNP 14 A T 22573899 22573899 WashU ZKSCAN2 342357 genome.wustl.edu GRCh37 16 25266695 25266695 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328086.7:c.418C>G p.Arg140Gly p.R140G ENST00000328086 NM_001012981.4 140 Cgg/Ggg 0 Missense_Mutation G 39 ZKSCAN2 SNP 16 G C 25174196 25174196 WashU COL16A1 1307 genome.wustl.edu GRCh37 1 32163510 32163510 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373672.3:c.654C>G p.Val218= p.V218= ENST00000373672 NM_001856.3 218 gtC/gtG 0 Silent G 33 COL16A1 SNP 1 G C 31936097 31936097 WashU ADAMTS12 81792 genome.wustl.edu GRCh37 5 33615972 33615972 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000504830.1:c.2349G>C p.Leu783= p.L783= ENST00000504830 NM_030955.2 783 ctG/ctC 0 Silent C 29 ADAMTS12 SNP 5 C G 33651729 33651729 WashU DUOXA1 90527 genome.wustl.edu GRCh37 15 45410236 45410236 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000267803.4:c.1023G>A p.Ala341= p.A341= ENST00000267803 NM_144565.3 341 gcG/gcA 0 Silent C 23 DUOXA1 SNP 15 C T 43197528 43197528 WashU CDH22 64405 genome.wustl.edu GRCh37 20 44815563 44815563 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372262.3:c.1447G>A p.Ala483Thr p.A483T ENST00000372262 483 Gca/Aca 0 Missense_Mutation C 26 CDH22 SNP 20 C T 44248970 44248970 WashU SLC35C2 51006 genome.wustl.edu GRCh37 20 44984490 44984490 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372227.1:c.359C>T p.Ala120Val p.A120V ENST00000372227 NM_001281460.1 120 gCt/gTt 0 Missense_Mutation G 34 SLC35C2 SNP 20 G A 44417897 44417897 WashU TP53I11 9537 genome.wustl.edu GRCh37 11 44956477 44956477 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000533940.1:c.528T>G p.Ile176Met p.I176M ENST00000533940 NM_001258320.1 176 atT/atG 0 Missense_Mutation A 1 TP53I11 SNP 11 A C 44913053 44913053 WashU SMC1A 8243 genome.wustl.edu GRCh37 X 53432592 53432592 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322213.4:c.1744G>T p.Asp582Tyr p.D582Y ENST00000322213 NM_001281463.1 582 Gat/Tat 0 Missense_Mutation C 32 SMC1A SNP 23 C A 53449317 53449317 WashU CBLN4 140689 genome.wustl.edu GRCh37 20 54579014 54579014 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000064571.2:c.214G>A p.Ala72Thr p.A72T ENST00000064571 NM_080617.5 72 Gcc/Acc 0 Missense_Mutation C 27 CBLN4 SNP 20 T T 54012421 54012421 WashU MBL2 4153 genome.wustl.edu GRCh37 10 54531252 54531252 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373968.3:c.144C>A p.Gly48= p.G48= ENST00000373968 NM_000242.2 48 ggC/ggA 0 Silent G 46 MBL2 SNP 10 G T 54201258 54201258 WashU DLGAP5 9787 genome.wustl.edu GRCh37 14 55642645 55642645 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000247191.2:c.1141T>G p.Cys381Gly p.C381G ENST00000247191 NM_014750.4 381 Tgt/Ggt 0 Missense_Mutation A 8 DLGAP5 SNP 14 A C 54712398 54712398 WashU AC111155.1 genome.wustl.edu GRCh37 17 58804589 58804589 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000437414.1:n.255G>A *85* ENST00000437414 0 Silent C 32 LOC729621 SNP 17 C T 56159371 56159371 WashU AQP7P1 375719 genome.wustl.edu GRCh37 9 67272170 67272170 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334576.3:n.1243C>T *415* ENST00000334576 0 Silent G 39 AQP7P1 SNP 9 G A 66961990 66961990 WashU GLCE 26035 genome.wustl.edu GRCh37 15 69561147 69561147 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261858.2:c.1418C>T p.Ala473Val p.A473V ENST00000261858 NM_015554.1 473 gCa/gTa 0 Missense_Mutation C 25 GLCE SNP 15 C T 67348201 67348201 WashU AUTS2 26053 genome.wustl.edu GRCh37 7 70229813 70229813 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000342771.4:c.1290G>A p.Pro430= p.P430= ENST00000342771 NM_015570.2 430 ccG/ccA 0 Silent G 40 AUTS2 SNP 7 G A 69867749 69867749 WashU SCAMP5 192683 genome.wustl.edu GRCh37 15 75308997 75308997 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361900.6:c.200G>A p.Gly67Glu p.G67E ENST00000361900 NM_001178111.1 67 gGa/gAa 0 Missense_Mutation G 41 SCAMP5 SNP 15 G A 73096050 73096050 WashU CCDC40 55036 genome.wustl.edu GRCh37 17 78061473 78061473 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397545.4:c.2517C>T p.Asp839= p.D839= ENST00000397545 NM_017950.3 839 gaC/gaT 0 Silent C 18 CCDC40 SNP 17 C T 75676068 75676068 WashU IL17C 27189 genome.wustl.edu GRCh37 16 88706362 88706362 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G A A G A Unknown Valid LOH 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244241.4:c.476G>A p.Arg159His p.R159H ENST00000244241 NM_013278.3 159 cGc/cAc 0 Missense_Mutation G 38 IL17C SNP 16 A A 87233863 87233863 WashU IARS 3376 genome.wustl.edu GRCh37 9 95013039 95013039 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375643.3:c.2385C>G p.Asp795Glu p.D795E ENST00000375643 NM_013417.3 795 gaC/gaG 0 Missense_Mutation G 48 IARS SNP 9 G C 94052860 94052860 WashU KRT18P50 442236 genome.wustl.edu GRCh37 6 96440053 96440053 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G A A G A Unknown Valid LOH 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000404337.1:n.1071G>A *357* ENST00000404337 0 Missense_Mutation G 39 KRT18P50 SNP 6 A A 96546774 96546774 WashU WASH2P 375260 genome.wustl.edu GRCh37 15 102515347 102515347 + downstream_gene_variant 3'Flank SNP C C A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000354296 0 Missense_Mutation C 25 WASH2P SNP 15 C A 100332870 100332870 WashU CLDN15 24146 genome.wustl.edu GRCh37 7 100877639 100877639 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000401528.1:c.302G>A p.Arg101His p.R101H ENST00000401528 NM_001185080.1 101 cGc/cAc 0 Missense_Mutation C 27 CLDN15 SNP 7 C T 100664359 100664359 WashU RP4-545K15.3 genome.wustl.edu GRCh37 X 100852697 100852697 + upstream_gene_variant 5'Flank SNP T T A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000602449 0 Nonsense_Mutation T 61 LOC653354 SNP 23 T A 100739353 100739353 WashU MYO16 23026 genome.wustl.edu GRCh37 13 109318424 109318424 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356711.2:c.153G>A p.Ala51= p.A51= ENST00000356711 NM_015011.1 51 gcG/gcA 0 Silent G 37 MYO16 SNP 13 G A 108116425 108116425 WashU SYBU 55638 genome.wustl.edu GRCh37 8 110587148 110587148 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422135.1:c.1979G>A p.Arg660His p.R660H ENST00000422135 NM_001099744.1 660 cGt/cAt 0 Missense_Mutation C 19 SYBU SNP 8 C T 110656324 110656324 WashU LRIG2 9860 genome.wustl.edu GRCh37 1 113657287 113657287 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361127.5:c.2319G>A p.Gly773= p.G773= ENST00000361127 NM_014813.1 773 ggG/ggA 0 Silent G 41 LRIG2 SNP 1 G A 113458810 113458810 WashU SIDT1 54847 genome.wustl.edu GRCh37 3 113286443 113286443 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264852.4:c.401C>T p.Ala134Val p.A134V ENST00000264852 NM_017699.2 134 gCa/gTa 0 Missense_Mutation C 25 SIDT1 SNP 3 C T 114769133 114769133 WashU STXBP5L 9515 genome.wustl.edu GRCh37 3 120973862 120973862 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273666.6:c.1562A>G p.Tyr521Cys p.Y521C ENST00000273666 NM_014980.2 521 tAc/tGc 0 Missense_Mutation A 14 STXBP5L SNP 3 A G 122456552 122456552 WashU FAM83A 84985 genome.wustl.edu GRCh37 8 124195554 124195554 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000518448.1:c.458G>A p.Arg153His p.R153H ENST00000518448 153 cGc/cAc 0 Missense_Mutation G 38 FAM83A SNP 8 G A 124264735 124264735 WashU FBN2 2201 genome.wustl.edu GRCh37 5 127681245 127681245 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000508053.1:c.3021G>T p.Trp1007Cys p.W1007C ENST00000508053 1007 tgG/tgT 0 Missense_Mutation C 22 FBN2 SNP 5 C A 127709144 127709144 WashU DOCK1 1793 genome.wustl.edu GRCh37 10 129172467 129172467 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000280333.6:c.3601G>A p.Val1201Ile p.V1201I ENST00000280333 NM_001380.3 1201 Gtc/Atc 0 Missense_Mutation G 40 DOCK1 SNP 10 G A 129062457 129062457 WashU DNM1 1759 genome.wustl.edu GRCh37 9 131008774 131008774 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372923.3:c.1773G>A p.Thr591= p.T591= ENST00000372923 NM_004408.2 591 acG/acA 0 Silent G 39 DNM1 SNP 9 G A 130048595 130048595 WashU PPP2R2B 5521 genome.wustl.edu GRCh37 5 145969658 145969658 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336640.6:c.1193T>G p.Val398Gly p.V398G ENST00000336640 NM_181676.2 398 gTg/gGg 0 Missense_Mutation A 6 PPP2R2B SNP 5 A C 145949851 145949851 WashU ZNF16 7564 genome.wustl.edu GRCh37 8 146157787 146157787 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276816.4:c.386C>A p.Ser129Tyr p.S129Y ENST00000276816 NM_001029976.2 129 tCc/tAc 0 Missense_Mutation G 41 ZNF16 SNP 8 G T 146128591 146128591 WashU FGB 2244 genome.wustl.edu GRCh37 4 155491741 155491741 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302068.4:c.1415G>A p.Gly472Glu p.G472E ENST00000302068 NM_005141.4 472 gGg/gAg 0 Missense_Mutation G 43 FGB SNP 4 G A 155711191 155711191 WashU DNAJB6 10049 genome.wustl.edu GRCh37 7 157177652 157177652 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262177.4:c.570G>A p.Ser190= p.S190= ENST00000262177 NM_058246.3 190 tcG/tcA 0 Silent G 37 DNAJB6 SNP 7 G A 156870413 156870413 WashU PDE11A 50940 genome.wustl.edu GRCh37 2 178936480 178936480 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286063.6:c.685G>A p.Val229Ile p.V229I ENST00000286063 NM_016953.3 229 Gtc/Atc 0 Missense_Mutation C 17 PDE11A SNP 2 C T 178644726 178644726 WashU RGS21 431704 genome.wustl.edu GRCh37 1 192316515 192316515 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000417209.2:c.84C>A p.Asn28Lys p.N28K ENST00000417209 NM_001039152.3 28 aaC/aaA 0 Missense_Mutation C 18 RGS21 SNP 1 C A 190583138 190583138 WashU SPAG16 79582 genome.wustl.edu GRCh37 2 214228856 214228856 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000331683.5:c.819T>C p.Gly273= p.G273= ENST00000331683 NM_024532.4 273 ggT/ggC 0 Silent T 58 SPAG16 SNP 2 T C 213937101 213937101 WashU FRG1B genome.wustl.edu GRCh37 20 29612385 29612385 + intron_variant Intron SNP A A C novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 A A C C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000278882.3:c.-124+272A>C *42* ENST00000278882 0 Missense_Mutation A 7 ENSG00000215548 SNP 20 C C 28226046 28226046 WashU BLVRA 644 genome.wustl.edu GRCh37 7 43846616 43846616 + stop_gained Nonsense_Mutation SNP C C T Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000402924.1:c.673C>T p.Arg225Ter p.R225* ENST00000402924 NM_001253823.1 225 Cga/Tga 0 Nonsense_Mutation C 19 BLVRA SNP 7 C T 43813141 43813141 WashU POSTN 10631 genome.wustl.edu GRCh37 13 38138662 38138663 + frameshift_variant Frame_Shift_Ins INS - - T Unknown TCGA-24-0982-01 TCGA-24-0982-10 - - - T - - Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000379747.4:c.2466dupA p.Val823SerfsTer5 p.V823Sfs*5 ENST00000379747 NM_006475.2 822 -/A 0 Frame_Shift_Ins - 20 POSTN INS 13 - T 37036663 37036662 WashU L3MBTL2 83746 genome.wustl.edu GRCh37 22 41605732 41605733 + missense_variant Missense_Mutation DNP GG GG AA Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000216237.5:c.57_58delinsAA p.Glu20Lys p.E20K ENST00000216237 NM_031488.4 19 gaGGaa/gaAAaa 0 Missense GG 35 L3MBTL2 DNP 22 GG AA 39935679 39935678 WashU L3MBTL2 83746 genome.wustl.edu GRCh37 22 41605747 41605747 + synonymous_variant Silent SNP G G A Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000216237.5:c.72G>A p.Leu24= p.L24= ENST00000216237 NM_031488.4 24 ttG/ttA 0 Silent G 47 L3MBTL2 SNP 22 G A 39935693 39935693 WashU L3MBTL2 83746 genome.wustl.edu GRCh37 22 41605761 41605761 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-24-0982-01 TCGA-24-0982-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000216237.5:c.86G>A p.Gly29Asp p.G29D ENST00000216237 NM_031488.4 29 gGc/gAc 0 Missense_Mutation G 42 L3MBTL2 SNP 22 G A 39935707 39935707 WashU FLG 2312 broad.mit.edu GRCh37 1 152282663 152282663 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000368799.1:c.4699C>T p.Arg1567Trp p.R1567W ENST00000368799 NM_002016.1 1567 Cgg/Tgg 0 Missense_Mutation G 37 FLG SNP 1 G A 150549287 150549287 Broad FLG 2312 broad.mit.edu GRCh37 1 152287816 152287816 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000368799.1:c.117G>T p.Lys39Asn p.K39N ENST00000368799 NM_002016.1 39 aaG/aaT 0 Missense_Mutation C 24 FLG SNP 1 C A 150554440 150554440 Broad RGS7 6000 broad.mit.edu GRCh37 1 240977019 240977019 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000366565.1:c.855T>A p.Ser285Arg p.S285R ENST00000366565 NM_002924.4 285 agT/agA 0 Missense_Mutation A 2 RGS7 SNP 1 A T 239043642 239043642 Broad PLXDC2 84898 broad.mit.edu GRCh37 10 20290850 20290850 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000377252.4:c.259C>A p.Pro87Thr p.P87T ENST00000377252 NM_032812.7 87 Cct/Act 0 Missense_Mutation C 30 PLXDC2 SNP 10 C A 20330856 20330856 Broad SYT8 90019 broad.mit.edu GRCh37 11 1858460 1858460 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000381968.3:c.1005G>T p.Leu335= p.L335= ENST00000381968 NM_138567.3 335 ctG/ctT 0 Silent G 46 SYT8 SNP 11 G T 1815036 1815036 Broad ACCSL 390110 broad.mit.edu GRCh37 11 44069884 44069884 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000378832.1:c.298G>A p.Asp100Asn p.D100N ENST00000378832 NM_001031854.2 100 Gac/Aac 0 Missense_Mutation G 41 ACCSL SNP 11 G A 44026460 44026460 Broad DGKZ 8525 broad.mit.edu GRCh37 11 46387847 46387847 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000454345.1:c.41C>T p.Pro14Leu p.P14L ENST00000454345 NM_001105540.1 14 cCa/cTa 0 Missense_Mutation C 21 DGKZ SNP 11 C T 46344423 46344423 Broad PACS1 55690 broad.mit.edu GRCh37 11 66000503 66000503 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000320580.4:c.1804G>A p.Val602Met p.V602M ENST00000320580 NM_018026.3 602 Gtg/Atg 0 Missense_Mutation G 40 PACS1 SNP 11 G A 65757079 65757079 Broad ANO1 55107 broad.mit.edu GRCh37 11 70028619 70028619 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000355303.5:c.2415C>A p.Ile805= p.I805= ENST00000355303 NM_018043.5 805 atC/atA 0 Silent C 32 ANO1 SNP 11 C A 69706267 69706267 Broad KRTAP5-7 440050 broad.mit.edu GRCh37 11 71238604 71238604 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000398536.4:c.258C>T p.Gly86= p.G86= ENST00000398536 NM_001012503.1 86 ggC/ggT 0 Silent C 28 KRTAP5-7 SNP 11 C T 70916252 70916252 Broad GDPD5 81544 broad.mit.edu GRCh37 11 75160025 75160025 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000336898.3:c.711C>G p.Pro237= p.P237= ENST00000336898 NM_030792.6 237 ccC/ccG 0 Silent G 47 GDPD5 SNP 11 G C 74837673 74837673 Broad C11orf82 220042 broad.mit.edu GRCh37 11 82625793 82625793 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000533655.1:c.13C>T p.Arg5Ter p.R5* ENST00000533655 NM_145018.3 5 Cga/Tga 0 Nonsense_Mutation C 19 C11orf82 SNP 11 C T 82303441 82303441 Broad EXPH5 23086 broad.mit.edu GRCh37 11 108381960 108381960 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000265843.4:c.4274C>T p.Ser1425Phe p.S1425F ENST00000265843 NM_015065.2 1425 tCt/tTt 0 Missense_Mutation G 33 EXPH5 SNP 11 G A 107887170 107887170 Broad ATP5G2 517 broad.mit.edu GRCh37 12 54059178 54059178 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000394349.3:c.517G>A p.Ala173Thr p.A173T ENST00000394349 NM_005176.5 173 Gcc/Acc 0 Missense_Mutation C 27 ATP5G2 SNP 12 C T 52345445 52345445 Broad CRY1 1407 broad.mit.edu GRCh37 12 107395141 107395141 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000008527.5:c.601G>A p.Asp201Asn p.D201N ENST00000008527 NM_004075.4 201 Gat/Aat 0 Missense_Mutation C 29 CRY1 SNP 12 C T 105919271 105919271 Broad DNAH10 196385 broad.mit.edu GRCh37 12 124283833 124283833 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000409039.3:c.1850A>G p.Glu617Gly p.E617G ENST00000409039 NM_207437.3 617 gAg/gGg 0 Missense_Mutation A 11 DNAH10 SNP 12 A G 122849786 122849786 Broad GPR133 283383 broad.mit.edu GRCh37 12 131466490 131466490 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000261654.5:c.372G>A p.Ala124= p.A124= ENST00000261654 NM_198827.3 124 gcG/gcA 0 Silent G 40 GPR133 SNP 12 G A 130032443 130032443 Broad DDX51 317781 broad.mit.edu GRCh37 12 132627283 132627283 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000397333.3:c.660C>A p.Ser220= p.S220= ENST00000397333 NM_175066.3 220 tcC/tcA 0 Silent G 35 DDX51 SNP 12 G T 131193236 131193236 Broad ZNF605 100289635 broad.mit.edu GRCh37 12 133503655 133503655 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000392321.3:c.323A>G p.Lys108Arg p.K108R ENST00000392321 NM_001164715.1 108 aAa/aGa 0 Missense_Mutation T 64 ZNF605 SNP 12 T C 132013728 132013728 Broad RNF17 56163 broad.mit.edu GRCh37 13 25374504 25374504 + splice_region_variant,synonymous_variant Splice_Region SNP A A T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000255324.5:c.1590A>T p.Gly530= p.G530= ENST00000255324 NM_031277.2 530 ggA/ggT 0 Silent A 11 RNF17 SNP 13 A T 24272504 24272504 Broad PCDH9 5101 broad.mit.edu GRCh37 13 67205409 67205409 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000544246.1:c.3273C>T p.Asp1091= p.D1091= ENST00000544246 NM_203487.2 1091 gaC/gaT 0 Silent G 40 PCDH9 SNP 13 G A 66103410 66103410 Broad DOCK9 23348 broad.mit.edu GRCh37 13 99452646 99452646 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000376460.1:c.5854G>C p.Asp1952His p.D1952H ENST00000376460 NM_015296.2 1952 Gac/Cac 0 Missense_Mutation C 29 DOCK9 SNP 13 C G 98250647 98250647 Broad OR4K13 390433 broad.mit.edu GRCh37 14 20502317 20502317 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000315693.2:c.601G>T p.Ala201Ser p.A201S ENST00000315693 NM_001004714.1 201 Gct/Tct 0 Missense_Mutation C 25 OR4K13 SNP 14 C A 19572157 19572157 Broad PAK6 56924 broad.mit.edu GRCh37 15 40557179 40557179 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000560346.1:c.193C>A p.Gln65Lys p.Q65K ENST00000560346 65 Cag/Aag 0 Missense_Mutation C 21 PAK6 SNP 15 C A 38344471 38344471 Broad IL4R 3566 broad.mit.edu GRCh37 16 27374954 27374954 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000395762.2:c.2281G>A p.Ala761Thr p.A761T ENST00000395762 NM_000418.3 761 Gcc/Acc 0 Missense_Mutation G 42 IL4R SNP 16 G A 27282455 27282455 Broad MVP 9961 broad.mit.edu GRCh37 16 29853155 29853155 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000357402.5:c.1430G>A p.Arg477Gln p.R477Q ENST00000357402 NM_017458.3 477 cGa/cAa 0 Missense_Mutation G 37 MVP SNP 16 G A 29760656 29760656 Broad GAS8 2622 broad.mit.edu GRCh37 16 90103716 90103716 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000268699.4:c.833G>T p.Arg278Leu p.R278L ENST00000268699 NM_001481.2 278 cGc/cTc 0 Missense_Mutation G 38 GAS8 SNP 16 G T 88631217 88631217 Broad DNM2 1785 broad.mit.edu GRCh37 19 10897342 10897342 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000389253.4:c.952C>T p.Arg318Trp p.R318W ENST00000389253 NM_001005361.2 318 Cgg/Tgg 0 Missense_Mutation C 31 DNM2 SNP 19 C T 10758342 10758342 Broad KCNN1 3780 broad.mit.edu GRCh37 19 18085960 18085960 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000222249.9:c.462G>T p.Leu154= p.L154= ENST00000222249 NM_002248.4 154 ctG/ctT 0 Silent G 47 KCNN1 SNP 19 G T 17946960 17946960 Broad PSG1 5669 broad.mit.edu GRCh37 19 43376096 43376096 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 A T A A Unknown Valid Somatic x x 454_PCR_WGA x ENST00000244296.2:c.532T>A p.Tyr178Asn p.Y178N ENST00000244296 NM_006905.2 178 Tac/Aac 0 Missense_Mutation A 15 PSG1 SNP 19 A T 48067936 48067936 Broad MITD1 129531 broad.mit.edu GRCh37 2 99786056 99786056 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000289359.2:c.611T>C p.Met204Thr p.M204T ENST00000289359 NM_138798.1 204 aTg/aCg 0 Missense_Mutation A 8 MITD1 SNP 2 A G 99152488 99152488 Broad TTN 7273 broad.mit.edu GRCh37 2 179612039 179612039 + intron_variant Intron SNP T T G novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 T G T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000589042.1:c.11312-5391A>C *3771* ENST00000589042 NM_001267550.1 0 Missense_Mutation T 59 TTN SNP 2 T G 179320284 179320284 Broad DOCK3 1795 broad.mit.edu GRCh37 3 51400103 51400103 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000266037.9:c.5291G>A p.Arg1764Gln p.R1764Q ENST00000266037 NM_004947.4 1764 cGa/cAa 0 Missense_Mutation G 37 DOCK3 SNP 3 G A 51375143 51375143 Broad SPICE1 152185 broad.mit.edu GRCh37 3 113187693 113187693 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000295872.4:c.805G>A p.Glu269Lys p.E269K ENST00000295872 NM_144718.3 269 Gaa/Aaa 0 Missense_Mutation C 29 CCDC52 SNP 3 C T 114670383 114670383 Broad SIDT1 54847 broad.mit.edu GRCh37 3 113327010 113327010 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000264852.4:c.1548G>A p.Leu516= p.L516= ENST00000264852 NM_017699.2 516 ttG/ttA 0 Silent G 46 SIDT1 SNP 3 G A 114809700 114809700 Broad ZNF80 7634 broad.mit.edu GRCh37 3 113955519 113955519 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000482457.2:c.403T>G p.Cys135Gly p.C135G ENST00000482457 NM_007136.3 135 Tgc/Ggc 0 Missense_Mutation A 6 ZNF80 SNP 3 A C 115438209 115438209 Broad CD86 942 broad.mit.edu GRCh37 3 121825047 121825047 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000330540.2:c.403A>C p.Asn135His p.N135H ENST00000330540 NM_175862.4 135 Aac/Cac 0 Missense_Mutation A 13 CD86 SNP 3 A C 123307737 123307737 Broad KIAA1109 84162 broad.mit.edu GRCh37 4 123167884 123167884 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000264501.4:c.5231C>T p.Thr1744Met p.T1744M ENST00000264501 1744 aCg/aTg 0 Missense_Mutation C 19 KIAA1109 SNP 4 C T 123387334 123387334 Broad TAS2R1 50834 broad.mit.edu GRCh37 5 9629601 9629601 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000382492.2:c.544G>T p.Glu182Ter p.E182* ENST00000382492 NM_019599.2 182 Gag/Tag 0 Nonsense_Mutation C 29 TAS2R1 SNP 5 C A 9682601 9682601 Broad NADK2 133686 broad.mit.edu GRCh37 5 36197738 36197738 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000381937.4:c.1095C>T p.Leu365= p.L365= ENST00000381937 NM_001085411.1 365 ctC/ctT 0 Silent G 33 C5orf33 SNP 5 G A 36233495 36233495 Broad PCDHB4 56131 broad.mit.edu GRCh37 5 140503174 140503174 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000194152.1:c.1594G>A p.Ala532Thr p.A532T ENST00000194152 NM_018938.2 532 Gcc/Acc 0 Missense_Mutation G 38 PCDHB4 SNP 5 G A 140483358 140483358 Broad CPLX2 10814 broad.mit.edu GRCh37 5 175306958 175306958 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000359546.4:c.315C>T p.Cys105= p.C105= ENST00000359546 NM_006650.3 105 tgC/tgT 0 Silent C 27 CPLX2 SNP 5 C T 175239564 175239564 Broad TAP2 6891 broad.mit.edu GRCh37 6 32803463 32803463 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000374899.4:c.696C>A p.Ser232= p.S232= ENST00000374899 NM_018833.2 232 tcC/tcA 0 Silent G 43 TAP2 SNP 6 G T 32911441 32911441 Broad TTBK1 84630 broad.mit.edu GRCh37 6 43251672 43251672 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000259750.4:c.3194C>G p.Thr1065Arg p.T1065R ENST00000259750 NM_032538.1 1065 aCg/aGg 0 Missense_Mutation C 19 TTBK1 SNP 6 C G 43359650 43359650 Broad EPHA7 2045 broad.mit.edu GRCh37 6 94120434 94120434 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369303.4:c.617G>T p.Trp206Leu p.W206L ENST00000369303 NM_004440.3 206 tGg/tTg 0 Missense_Mutation C 21 EPHA7 SNP 6 C A 94177155 94177155 Broad AP5Z1 9907 broad.mit.edu GRCh37 7 4823018 4823018 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000348624.4:c.438G>C p.Glu146Asp p.E146D ENST00000348624 NM_014855.2 146 gaG/gaC 0 Missense_Mutation G 35 KIAA0415 SNP 7 G C 4789544 4789544 Broad ZAN 7455 broad.mit.edu GRCh37 7 100364276 100364276 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000546292.1:c.4599C>T p.Gly1533= p.G1533= ENST00000546292 NM_173059.1 1533 ggC/ggT 0 Silent C 28 ZAN SNP 7 C T 100202212 100202212 Broad KMT2E 55904 broad.mit.edu GRCh37 7 104752974 104752974 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000311117.3:c.4771C>G p.Pro1591Ala p.P1591A ENST00000311117 NM_182931.2 1591 Cct/Gct 0 Missense_Mutation C 30 MLL5 SNP 7 C G 104540210 104540210 Broad PRAG1 157285 broad.mit.edu GRCh37 8 8234804 8234804 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000520004.1:c.1115C>T p.Pro372Leu p.P372L ENST00000520004 372 cCa/cTa 0 Missense_Mutation G 47 PRAGMIN SNP 8 G A 8272214 8272214 Broad ZNF169 169841 broad.mit.edu GRCh37 9 97062480 97062480 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown x x x ENST00000395395.2:c.640C>T p.Arg214Cys p.R214C ENST00000395395 NM_194320.2 214 Cgt/Tgt 0 Missense_Mutation C 19 ZNF169 SNP 9 C T 96102301 96102301 Broad TP53 7157 broad.mit.edu GRCh37 17 7573995 7573995 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.1032del p.Asn345MetfsTer25 p.N345Mfs*25 ENST00000269305 NM_001126112.2 344 ctG/ct 0 Frame_Shift_Del C 29 TP53 DEL 17 C - 7514720 7514720 Broad KDM5C 8242 broad.mit.edu GRCh37 X 53239653 53239654 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-24-1434-01 TCGA-24-1434-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000375401.3:c.1688dup p.Leu564ProfsTer58 p.L564Pfs*58 ENST00000375401 NM_004187.3 563 ctc/ctTc 0 Frame_Shift_Ins - 41 KDM5C INS 23 A - 53256379 53256378 Broad RHBDF1 64285 genome.wustl.edu GRCh37 16 109279 109279 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262316.6:c.1962C>T p.Tyr654= p.Y654= ENST00000262316 NM_022450.3 654 taC/taT 0 Silent G 44 RHBDF1 SNP 16 G A 49279 49279 WashU POLRMT 5442 genome.wustl.edu GRCh37 19 623499 623499 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000588649.2:c.1245G>T p.Val415= p.V415= ENST00000588649 NM_005035.3 415 gtG/gtT 0 Silent C 17 POLRMT SNP 19 C A 574499 574499 WashU WNK1 65125 genome.wustl.edu GRCh37 12 988974 988974 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000315939.6:c.2609C>T p.Thr870Ile p.T870I ENST00000315939 NM_018979.3 870 aCt/aTt 0 Missense_Mutation C 20 WNK1 SNP 12 C T 859235 859235 WashU NOC2L 26155 genome.wustl.edu GRCh37 1 881892 881892 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327044.6:c.1693A>C p.Asn565His p.N565H ENST00000327044 NM_015658.3 565 Aac/Cac 0 Missense_Mutation T 63 NOC2L SNP 1 T G 871755 871755 WashU TERT 7015 genome.wustl.edu GRCh37 5 1280401 1280401 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310581.5:c.1822C>A p.Gln608Lys p.Q608K ENST00000310581 NM_198253.2 608 Cag/Aag 0 Missense_Mutation G 46 TERT SNP 5 G T 1333401 1333401 WashU ERC1 23085 genome.wustl.edu GRCh37 12 1553751 1553751 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397203.2:c.3048T>G p.Leu1016= p.L1016= ENST00000397203 1016 ctT/ctG 0 Silent T 63 ERC1 SNP 12 T G 1424012 1424012 WashU CACNA1C 775 genome.wustl.edu GRCh37 12 2224552 2224552 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000347598.4:c.212C>A p.Ala71Glu p.A71E ENST00000347598 NM_199460.2 71 gCg/gAg 0 Missense_Mutation C 27 CACNA1C SNP 12 C A 2094813 2094813 WashU MLST8 64223 genome.wustl.edu GRCh37 16 2258832 2258832 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000569417.1:c.935A>G p.Gln312Arg p.Q312R ENST00000569417 NM_022372.4 312 cAg/cGg 0 Missense_Mutation A 7 MLST8 SNP 16 A G 2198833 2198833 WashU THOP1 7064 genome.wustl.edu GRCh37 19 2799744 2799744 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307741.6:c.544C>A p.Leu182Met p.L182M ENST00000307741 NM_003249.3 182 Ctg/Atg 0 Missense_Mutation C 24 THOP1 SNP 19 C A 2750744 2750744 WashU CLUAP1 23059 genome.wustl.edu GRCh37 16 3573215 3573215 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000576634.1:c.771C>T p.Asp257= p.D257= ENST00000576634 NM_015041.2 257 gaC/gaT 0 Silent C 17 CLUAP1 SNP 16 C T 3513216 3513216 WashU ZZEF1 23140 genome.wustl.edu GRCh37 17 3920845 3920845 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381638.2:c.7821C>G p.Leu2607= p.L2607= ENST00000381638 NM_015113.3 2607 ctC/ctG 0 Silent G 33 ZZEF1 SNP 17 C C 3867594 3867594 WashU PSMB6 5694 genome.wustl.edu GRCh37 17 4700982 4700982 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270586.3:c.308A>G p.Glu103Gly p.E103G ENST00000270586 NM_002798.2 103 gAa/gGa 0 Missense_Mutation A 9 PSMB6 SNP 17 A G 4647940 4647940 WashU KIAA2026 158358 genome.wustl.edu GRCh37 9 5969314 5969314 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399933.3:c.917C>G p.Ala306Gly p.A306G ENST00000399933 NM_001017969.2 306 gCt/gGt 0 Missense_Mutation G 34 KIAA2026 SNP 9 C C 5959314 5959314 WashU TBC1D14 57533 genome.wustl.edu GRCh37 4 6995910 6995910 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409757.4:c.844-1G>C p.X282_splice ENST00000409757 NM_020773.2 0 Splice_Site_SNP G 35 TBC1D14 SNP 4 G C 7046811 7046811 WashU DSP 1832 genome.wustl.edu GRCh37 6 7559457 7559457 + splice_acceptor_variant Splice_Site SNP A A G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379802.3:c.423-2A>G p.X141_splice ENST00000379802 NM_004415.2 0 Splice_Site_SNP A 7 DSP SNP 6 A G 7504456 7504456 WashU FBN3 84467 genome.wustl.edu GRCh37 19 8201405 8201405 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000600128.1:c.1212C>T p.Thr404= p.T404= ENST00000600128 404 acC/acT 0 Silent G 43 FBN3 SNP 19 G A 8107405 8107405 WashU CLEC4D 338339 genome.wustl.edu GRCh37 12 8672897 8672898 + missense_variant Missense_Mutation DNP TG TG GT novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 TG TG TG GT TG TG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299665.2:c.460_461delinsGT p.Trp154Val p.W154V ENST00000299665 NM_080387.4 154 TGg/GTg 0 Missense TG 59 CLEC4D DNP 12 TG GT 8564165 8564164 WashU CPZ 8532 genome.wustl.edu GRCh37 4 8608994 8608994 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360986.4:c.1069G>T p.Val357Leu p.V357L ENST00000360986 NM_001014447.2 357 Gtg/Ttg 0 Missense_Mutation G 44 CPZ SNP 4 G T 8659894 8659894 WashU TMED1 11018 genome.wustl.edu GRCh37 19 10945964 10945964 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000214869.2:c.249C>A p.Val83= p.V83= ENST00000214869 NM_006858.3 83 gtC/gtA 0 Silent G 45 TMED1 SNP 19 G T 10806964 10806964 WashU SCIN 85477 genome.wustl.edu GRCh37 7 12664740 12664740 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297029.5:c.865G>A p.Ala289Thr p.A289T ENST00000297029 NM_001112706.2 289 Gct/Act 0 Missense_Mutation G 42 SCIN SNP 7 G A 12631265 12631265 WashU HOOK2 29911 genome.wustl.edu GRCh37 19 12881827 12881827 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397668.3:c.821C>T p.Ala274Val p.A274V ENST00000397668 NM_013312.2 274 gCg/gTg 0 Missense_Mutation G 38 HOOK2 SNP 19 G A 12742827 12742827 WashU CACNA1A 773 genome.wustl.edu GRCh37 19 13397396 13397396 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360228.5:c.3474G>C p.Lys1158Asn p.K1158N ENST00000360228 NM_001127222.1 1158 aaG/aaC 0 Missense_Mutation C 32 CACNA1A SNP 19 C G 13258396 13258396 WashU MGP 4256 genome.wustl.edu GRCh37 12 15035113 15035113 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000228938.5:c.347C>T p.Ala116Val p.A116V ENST00000228938 NM_001190839.1 116 gCc/gTc 0 Missense_Mutation G 42 MGP SNP 12 G A 14926380 14926380 WashU CELA2B 51032 genome.wustl.edu GRCh37 1 15807631 15807631 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375910.3:c.168C>G p.His56Gln p.H56Q ENST00000375910 NM_015849.2 56 caC/caG 0 Missense_Mutation C 17 CELA2B SNP 1 C G 15680218 15680218 WashU RPL15P20 genome.wustl.edu GRCh37 16 16025570 16025570 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000482912.2:n.582T>C *194* ENST00000482912 0 Missense_Mutation A 11 ENSG00000215003 SNP 16 A G 15933071 15933071 WashU PTER 9317 genome.wustl.edu GRCh37 10 16526424 16526424 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378000.1:c.41T>C p.Leu14Pro p.L14P ENST00000378000 NM_001001484.2 14 cTt/cCt 0 Missense_Mutation T 56 PTER SNP 10 T C 16566430 16566430 WashU UPF1 5976 genome.wustl.edu GRCh37 19 18963027 18963027 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262803.5:c.894C>T p.Asp298= p.D298= ENST00000262803 NM_002911.3 298 gaC/gaT 0 Silent C 19 UPF1 SNP 19 C T 18824027 18824027 WashU TUBA3FP 113691 genome.wustl.edu GRCh37 22 21363539 21363539 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422086.1:n.917G>A *306* ENST00000422086 0 Silent C 31 ENSG00000161149 SNP 22 C T 19693539 19693539 WashU KCNIP4 80333 genome.wustl.edu GRCh37 4 20884250 20884250 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382152.2:c.144G>A p.Thr48= p.T48= ENST00000382152 NM_025221.5 48 acG/acA 0 Silent C 19 KCNIP4 SNP 4 C T 20493348 20493348 WashU IGLV10-54 28772 genome.wustl.edu GRCh37 22 22569407 22569407 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390287.2:c.99G>T p.Leu33Phe p.L33F ENST00000390287 33 ttG/ttT 0 Missense_Mutation G 45 IGLV10-54 SNP 22 G T 20899407 20899407 WashU CHD8 57680 genome.wustl.edu GRCh37 14 21873400 21873400 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399982.2:c.3275G>A p.Arg1092His p.R1092H ENST00000399982 NM_001170629.1 1092 cGc/cAc 0 Missense_Mutation C 27 CHD8 SNP 14 C T 20943240 20943240 WashU NLK 51701 genome.wustl.edu GRCh37 17 26488244 26488244 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000407008.3:c.703C>A p.Pro235Thr p.P235T ENST00000407008 NM_016231.4 235 Cca/Aca 0 Missense_Mutation C 18 NLK SNP 17 C A 23512371 23512371 WashU ARHGAP21 57584 genome.wustl.edu GRCh37 10 24908437 24908437 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396432.2:c.2387C>A p.Pro796Gln p.P796Q ENST00000396432 NM_020824.3 796 cCg/cAg 0 Missense_Mutation G 39 ARHGAP21 SNP 10 G T 24948443 24948443 WashU SEPN1 57190 genome.wustl.edu GRCh37 1 26135163 26135163 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361547.2:c.630T>A p.Leu210= p.L210= ENST00000361547 NM_020451.2 210 ctT/ctA 0 Silent T 62 SEPN1 SNP 1 T A 26007750 26007750 WashU ARID1A 8289 genome.wustl.edu GRCh37 1 27102196 27102196 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324856.7:c.5122C>T p.Gln1708Ter p.Q1708* ENST00000324856 NM_006015.4 1708 Cag/Tag 0 Nonsense_Mutation C 29 ARID1A SNP 1 C T 26974783 26974783 WashU SNX17 9784 genome.wustl.edu GRCh37 2 27598394 27598394 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000233575.2:c.796C>T p.Leu266= p.L266= ENST00000233575 NM_001267059.1 266 Ctg/Ttg 0 Silent C 28 SNX17 SNP 2 C T 27451898 27451898 WashU PTCHD3 374308 genome.wustl.edu GRCh37 10 27687651 27687651 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000438700.3:c.1876G>C p.Gly626Arg p.G626R ENST00000438700 NM_001034842.3 626 Ggt/Cgt 0 Missense_Mutation C 24 PTCHD3 SNP 10 C G 27727657 27727657 WashU EOMES 8320 genome.wustl.edu GRCh37 3 27758785 27758785 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295743.4:c.1837G>T p.Glu613Ter p.E613* ENST00000295743 NM_005442.3 613 Gaa/Taa 0 Nonsense_Mutation C 30 EOMES SNP 3 C A 27733789 27733789 WashU KIF3B 9371 genome.wustl.edu GRCh37 20 30904343 30904343 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375712.3:c.1520G>C p.Arg507Thr p.R507T ENST00000375712 NM_004798.3 507 aGa/aCa 0 Missense_Mutation G 33 KIF3B SNP 20 G C 30368004 30368004 WashU ZNF785 146540 genome.wustl.edu GRCh37 16 30594263 30594263 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395216.2:c.836C>T p.Thr279Met p.T279M ENST00000395216 NM_152458.6 279 aCg/aTg 0 Missense_Mutation G 40 ZNF785 SNP 16 G A 30501764 30501764 WashU RYR3 6263 genome.wustl.edu GRCh37 15 34049746 34049746 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389232.4:c.8654C>A p.Pro2885His p.P2885H ENST00000389232 NM_001036.3 2885 cCc/cAc 0 Missense_Mutation C 22 RYR3 SNP 15 A A 31837038 31837038 WashU ZNF860 344787 genome.wustl.edu GRCh37 3 32030804 32030804 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360311.4:c.233C>T p.Ala78Val p.A78V ENST00000360311 NM_001137674.2 78 gCg/gTg 0 Missense_Mutation C 27 ZNF860 SNP 3 C T 32005808 32005808 WashU VPS52 6293 genome.wustl.edu GRCh37 6 33231828 33231828 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000445902.2:c.1577C>G p.Thr526Arg p.T526R ENST00000445902 NM_022553.4 526 aCa/aGa 0 Missense_Mutation G 48 VPS52 SNP 6 G C 33339806 33339806 WashU FAM98A 25940 genome.wustl.edu GRCh37 2 33817254 33817254 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000238823.8:c.230T>A p.Leu77His p.L77H ENST00000238823 77 cTt/cAt 0 Missense_Mutation A 3 FAM98A SNP 2 A T 33670758 33670758 WashU SLC5A3 6526 genome.wustl.edu GRCh37 21 35468095 35468095 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381151.3:c.598A>G p.Met200Val p.M200V ENST00000381151 200 Atg/Gtg 0 Missense_Mutation A 16 SLC5A3 SNP 21 A G 34389965 34389965 WashU SPDEF 25803 genome.wustl.edu GRCh37 6 34512224 34512224 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374037.3:c.9C>T p.Ser3= p.S3= ENST00000374037 NM_012391.2 3 agC/agT 0 Silent G 38 SPDEF SNP 6 G A 34620202 34620202 WashU UHRF1BP1 54887 genome.wustl.edu GRCh37 6 34831840 34831840 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000192788.5:c.3277C>A p.Leu1093Ile p.L1093I ENST00000192788 NM_017754.3 1093 Ctc/Atc 0 Missense_Mutation C 20 UHRF1BP1 SNP 6 C A 34939818 34939818 WashU UNC13B 10497 genome.wustl.edu GRCh37 9 35403794 35403794 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000378495.3:c.4540G>A p.Val1514Met p.V1514M ENST00000378495 NM_006377.3 1514 Gtg/Atg 0 Missense_Mutation G 40 UNC13B SNP 9 G A 35393794 35393794 WashU PAMR1 25891 genome.wustl.edu GRCh37 11 35454023 35454023 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000278360.3:c.2095C>T p.Arg699Cys p.R699C ENST00000278360 NM_015430.2 699 Cgc/Tgc 0 Missense_Mutation G 40 PAMR1 SNP 11 G A 35410599 35410599 WashU ZNF536 9745 genome.wustl.edu GRCh37 19 30934635 30934635 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355537.3:c.166C>G p.Pro56Ala p.P56A ENST00000355537 NM_014717.1 56 Ccc/Gcc 0 Missense_Mutation C 22 ZNF536 SNP 19 C G 35626475 35626475 WashU BPI 671 genome.wustl.edu GRCh37 20 36952363 36952363 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262865.4:c.860T>C p.Leu287Pro p.L287P ENST00000262865 NM_001725.2 287 cTg/cCg 0 Missense_Mutation T 55 BPI SNP 20 T C 36385777 36385777 WashU DCLK3 85443 genome.wustl.edu GRCh37 3 36756992 36756992 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000416516.2:c.1774C>T p.Arg592Trp p.R592W ENST00000416516 NM_033403.1 592 Cgg/Tgg 0 Missense_Mutation G 39 DCLK3 SNP 3 G A 36731996 36731996 WashU ZBTB5 9925 genome.wustl.edu GRCh37 9 37442187 37442187 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307750.4:c.362C>A p.Thr121Lys p.T121K ENST00000307750 NM_014872.2 121 aCa/aAa 0 Missense_Mutation G 48 ZBTB5 SNP 9 G T 37432187 37432187 WashU PLCB2 5330 genome.wustl.edu GRCh37 15 40595508 40595508 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260402.3:c.212A>C p.Lys71Thr p.K71T ENST00000260402 NM_004573.2 71 aAg/aCg 0 Missense_Mutation T 56 PLCB2 SNP 15 T G 38382800 38382800 WashU LRRK2 120892 genome.wustl.edu GRCh37 12 40745425 40745425 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298910.7:c.6466G>T p.Val2156Phe p.V2156F ENST00000298910 NM_198578.3 2156 Gtt/Ttt 0 Missense_Mutation G 44 LRRK2 SNP 12 G T 39031692 39031692 WashU FFAR3 2865 genome.wustl.edu GRCh37 19 35849888 35849888 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000327809.4:c.96C>T p.Asn32= p.N32= ENST00000327809 NM_005304.3 32 aaC/aaT 0 Silent C 18 FFAR3 SNP 19 C T 40541728 40541728 WashU DDX3X 1654 genome.wustl.edu GRCh37 X 41206139 41206139 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399959.2:c.1643G>C p.Arg548Thr p.R548T ENST00000399959 NM_001193417.1 548 aGg/aCg 0 Missense_Mutation G 35 DDX3X SNP 23 C C 41091083 41091083 WashU DDX3X 1654 genome.wustl.edu GRCh37 X 41206147 41206147 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399959.2:c.1651A>C p.Asn551His p.N551H ENST00000399959 NM_001193417.1 551 Aat/Cat 0 Missense_Mutation A 1 DDX3X SNP 23 A C 41091091 41091091 WashU VWA8 23078 genome.wustl.edu GRCh37 13 42249411 42249411 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379310.3:c.4349C>G p.Ser1450Cys p.S1450C ENST00000379310 NM_015058.1 1450 tCt/tGt 0 Missense_Mutation G 33 KIAA0564 SNP 13 G C 41147411 41147411 WashU ZNF568 374900 genome.wustl.edu GRCh37 19 37440552 37440552 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333987.7:c.497C>A p.Ser166Ter p.S166* ENST00000333987 NM_001204835.1 166 tCa/tAa 0 Nonsense_Mutation C 29 ZNF568 SNP 19 C A 42132392 42132392 WashU TMPRSS3 64699 genome.wustl.edu GRCh37 21 43796684 43796684 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000291532.3:c.1160C>A p.Ala387Glu p.A387E ENST00000291532 NM_032404.2 387 gCg/gAg 0 Missense_Mutation G 38 TMPRSS3 SNP 21 G T 42669753 42669753 WashU TTC17 55761 genome.wustl.edu GRCh37 11 43465707 43465707 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000039989.4:c.2613C>G p.Tyr871Ter p.Y871* ENST00000039989 NM_018259.5 871 taC/taG 0 Nonsense_Mutation C 18 TTC17 SNP 11 C G 43422283 43422283 WashU CAMK2B 816 genome.wustl.edu GRCh37 7 44281378 44281378 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395749.2:c.824G>A p.Arg275His p.R275H ENST00000395749 NM_001220.4 275 cGc/cAc 0 Missense_Mutation C 27 CAMK2B SNP 7 C T 44247903 44247903 WashU PAK4 10298 genome.wustl.edu GRCh37 19 39669141 39669141 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000593690.1:c.1698G>A p.Leu566= p.L566= ENST00000593690 NM_001014831.2 566 ctG/ctA 0 Silent G 46 PAK4 SNP 19 G A 44360981 44360981 WashU PTTG1IP 754 genome.wustl.edu GRCh37 21 46276241 46276241 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330938.3:c.316G>C p.Gly106Arg p.G106R ENST00000330938 NM_004339.3 106 Ggg/Cgg 0 Missense_Mutation C 23 PTTG1IP SNP 21 C G 45100669 45100669 WashU FAM35BP 414241 genome.wustl.edu GRCh37 10 46927863 46927863 + non_coding_transcript_exon_variant RNA SNP A A C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000497389.2:n.2097A>C *699* ENST00000497389 0 Missense_Mutation A 7 FAM35B SNP 10 A C 46347869 46347869 WashU PSMC3 5702 genome.wustl.edu GRCh37 11 47445638 47445638 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298852.3:c.550C>T p.Gln184Ter p.Q184* ENST00000298852 NM_002804.4 184 Caa/Taa 0 Nonsense_Mutation G 46 PSMC3 SNP 11 A A 47402214 47402214 WashU ZNF488 118738 genome.wustl.edu GRCh37 10 48371106 48371106 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395702.2:c.574C>A p.Leu192Met p.L192M ENST00000395702 192 Ctg/Atg 0 Missense_Mutation C 28 ZNF488 SNP 10 C A 47991112 47991112 WashU LIMA1 51474 genome.wustl.edu GRCh37 12 50642510 50642510 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394943.3:c.25C>T p.Arg9Trp p.R9W ENST00000394943 9 Cgg/Tgg 0 Missense_Mutation G 40 LIMA1 SNP 12 G A 48928777 48928777 WashU RHAG 6005 genome.wustl.edu GRCh37 6 49582561 49582562 + missense_variant Missense_Mutation DNP GA GA TT novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 GA GA GA TT GA GA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371175.4:c.645_646delinsAA p.Leu216Ile p.L216I ENST00000371175 NM_000324.2 215 acTCtc/acAAtc 0 Missense_Mutation GA 33 RHAG DNP 6 GA TT 49690521 49690520 WashU KRT74 121391 genome.wustl.edu GRCh37 12 52962018 52962018 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000305620.2:c.1290C>T p.Ser430= p.S430= ENST00000305620 NM_175053.3 430 agC/agT 0 Silent G 42 KRT74 SNP 12 G A 51248285 51248285 WashU MAGED1 9500 genome.wustl.edu GRCh37 X 51638326 51638326 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375695.2:c.391A>T p.Lys131Ter p.K131* ENST00000375695 NM_001005333.1 131 Aag/Tag 0 Nonsense_Mutation A 13 MAGED1 SNP 23 A T 51655066 51655066 WashU FIP1L1 81608 genome.wustl.edu GRCh37 4 54256783 54256783 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337488.6:c.493T>A p.Trp165Arg p.W165R ENST00000337488 NM_030917.3 165 Tgg/Agg 0 Missense_Mutation T 51 FIP1L1 SNP 4 T A 53951540 53951540 WashU CGB5 93659 genome.wustl.edu GRCh37 19 49548354 49548354 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000301408.6:c.301T>C p.Ser101Pro p.S101P ENST00000301408 NM_033043.1 101 Tcc/Ccc 0 Missense_Mutation T 54 CGB5 SNP 19 T C 54240166 54240166 WashU STAT2 6773 genome.wustl.edu GRCh37 12 56745160 56745160 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314128.4:c.857T>C p.Val286Ala p.V286A ENST00000314128 286 gTt/gCt 0 Missense_Mutation A 2 STAT2 SNP 12 A G 55031427 55031427 WashU PCSK9 255738 genome.wustl.edu GRCh37 1 55523739 55523739 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000302118.5:c.1211C>A p.Pro404Gln p.P404Q ENST00000302118 NM_174936.3 404 cCg/cAg 0 Missense_Mutation C 23 PCSK9 SNP 1 C A 55296327 55296327 WashU OR5D18 219438 genome.wustl.edu GRCh37 11 55587291 55587291 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333976.4:c.186T>G p.Phe62Leu p.F62L ENST00000333976 NM_001001952.1 62 ttT/ttG 0 Missense_Mutation T 64 OR5D18 SNP 11 T G 55343867 55343867 WashU DST 667 genome.wustl.edu GRCh37 6 56417764 56417764 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244364.6:c.7957A>G p.Lys2653Glu p.K2653E ENST00000244364 NM_015548.4 2653 Aaa/Gaa 0 Missense_Mutation T 61 DST SNP 6 T C 56525723 56525723 WashU DST 667 genome.wustl.edu GRCh37 6 56466364 56466364 + intron_variant Intron SNP T T C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244364.6:c.3673-1345A>G *1225* ENST00000244364 NM_015548.4 0 Silent T 60 DST SNP 6 T C 56574323 56574323 WashU DST 667 genome.wustl.edu GRCh37 6 56497780 56497780 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244364.6:c.2066G>A p.Arg689His p.R689H ENST00000244364 NM_015548.4 689 cGt/cAt 0 Missense_Mutation C 19 DST SNP 6 C T 56605739 56605739 WashU PCDH17 27253 genome.wustl.edu GRCh37 13 58208787 58208787 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377918.3:c.2107G>A p.Asp703Asn p.D703N ENST00000377918 NM_001040429.2 703 Gac/Aac 0 Missense_Mutation G 41 PCDH17 SNP 13 G A 57106788 57106788 WashU CNOT1 23019 genome.wustl.edu GRCh37 16 58590888 58590888 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000317147.5:c.2342T>C p.Leu781Pro p.L781P ENST00000317147 NM_016284.4 781 cTt/cCt 0 Missense_Mutation A 3 CNOT1 SNP 16 A G 57148389 57148389 WashU FAM81A 145773 genome.wustl.edu GRCh37 15 59752196 59752196 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000288228.5:c.85C>G p.Leu29Val p.L29V ENST00000288228 NM_152450.2 29 Ctc/Gtc 0 Missense_Mutation C 24 FAM81A SNP 15 C G 57539488 57539488 WashU CDH26 60437 genome.wustl.edu GRCh37 20 58570969 58570969 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000348616.4:c.1748G>A p.Gly583Glu p.G583E ENST00000348616 NM_177980.2 583 gGa/gAa 0 Missense_Mutation G 41 CDH26 SNP 20 G A 58004364 58004364 WashU MS4A4E 643680 genome.wustl.edu GRCh37 11 59997397 59997397 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000425663.1:c.132C>T p.Pro44= p.P44= ENST00000425663 44 ccC/ccT 0 Missense_Mutation G 47 LOC643680 SNP 11 A A 59753973 59753973 WashU NAT14 57106 genome.wustl.edu GRCh37 19 55998176 55998176 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000205194.4:c.474G>T p.Met158Ile p.M158I ENST00000205194 NM_020378.3 158 atG/atT 0 Missense_Mutation G 47 NAT14 SNP 19 T T 60689988 60689988 WashU HERC1 8925 genome.wustl.edu GRCh37 15 63940273 63940273 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000443617.2:c.10873C>T p.His3625Tyr p.H3625Y ENST00000443617 NM_003922.3 3625 Cat/Tat 0 Missense_Mutation G 48 HERC1 SNP 15 G A 61727326 61727326 WashU ZNF470 388566 genome.wustl.edu GRCh37 19 57088459 57088459 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330619.8:c.662A>G p.Asp221Gly p.D221G ENST00000330619 NM_001001668.3 221 gAc/gGc 0 Missense_Mutation A 10 ZNF470 SNP 19 A G 61780271 61780271 WashU ARHGEF9 23229 genome.wustl.edu GRCh37 X 62898438 62898438 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000253401.6:c.576G>T p.Trp192Cys p.W192C ENST00000253401 NM_015185.2 192 tgG/tgT 0 Missense_Mutation C 30 ARHGEF9 SNP 23 C A 62815163 62815163 WashU STIP1 10963 genome.wustl.edu GRCh37 11 63961672 63961672 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000305218.4:c.231A>G p.Arg77= p.R77= ENST00000305218 NM_006819.2 77 cgA/cgG 0 Silent A 9 STIP1 SNP 11 A G 63718248 63718248 WashU CMTM2 146225 genome.wustl.edu GRCh37 16 66620925 66620925 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268595.2:c.470G>C p.Cys157Ser p.C157S ENST00000268595 NM_144673.2 157 tGt/tCt 0 Missense_Mutation G 48 CMTM2 SNP 16 G C 65178426 65178426 WashU RELA 5970 genome.wustl.edu GRCh37 11 65427643 65427643 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000406246.3:c.379G>C p.Glu127Gln p.E127Q ENST00000406246 NM_001243985.1 127 Gag/Cag 0 Missense_Mutation C 30 RELA SNP 11 C G 65184219 65184219 WashU RBM4 5936 genome.wustl.edu GRCh37 11 66411583 66411583 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409406.1:c.1075G>A p.Ala359Thr p.A359T ENST00000409406 359 Gcg/Acg 0 Missense_Mutation G 42 RBM4 SNP 11 G A 66168159 66168159 WashU KDM2A 22992 genome.wustl.edu GRCh37 11 67022386 67022386 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000529006.2:c.3349C>T p.Arg1117Cys p.R1117C ENST00000529006 NM_012308.2 1117 Cgc/Tgc 0 Missense_Mutation C 27 KDM2A SNP 11 C T 66778962 66778962 WashU AR 367 genome.wustl.edu GRCh37 X 66937331 66937331 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374690.3:c.2185T>A p.Leu729Ile p.L729I ENST00000374690 NM_000044.3 729 Tta/Ata 0 Missense_Mutation T 56 AR SNP 23 T A 66854056 66854056 WashU SUV420H1 51111 genome.wustl.edu GRCh37 11 67925530 67925530 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304363.4:c.2283G>T p.Lys761Asn p.K761N ENST00000304363 NM_017635.3 761 aaG/aaT 0 Missense_Mutation C 28 SUV420H1 SNP 11 C A 67682106 67682106 WashU KIF4A 24137 genome.wustl.edu GRCh37 X 69573489 69573489 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374403.3:c.1506A>G p.Pro502= p.P502= ENST00000374403 NM_012310.4 502 ccA/ccG 0 Silent A 7 KIF4A SNP 23 A G 69490214 69490214 WashU BAI3 577 genome.wustl.edu GRCh37 6 69685227 69685227 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370598.1:c.1729C>G p.His577Asp p.H577D ENST00000370598 NM_001704.2 577 Cat/Gat 0 Missense_Mutation C 25 BAI3 SNP 6 C G 69741948 69741948 WashU SULF1 23213 genome.wustl.edu GRCh37 8 70551056 70551056 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260128.4:c.2514T>C p.Tyr838= p.Y838= ENST00000260128 NM_015170.2 838 taT/taC 0 Silent T 49 SULF1 SNP 8 T C 70713610 70713610 WashU CLEC4F 165530 genome.wustl.edu GRCh37 2 71044234 71044234 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272367.2:c.279C>A p.His93Gln p.H93Q ENST00000272367 NM_001258027.1 93 caC/caA 0 Missense_Mutation G 36 CLEC4F SNP 2 G T 70897742 70897742 WashU SIPA1L1 26037 genome.wustl.edu GRCh37 14 72085486 72085486 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000555818.1:c.1511A>G p.Tyr504Cys p.Y504C ENST00000555818 NM_015556.1 504 tAt/tGt 0 Missense_Mutation A 16 SIPA1L1 SNP 14 G G 71155239 71155239 WashU ELMSAN1 91748 genome.wustl.edu GRCh37 14 74205387 74205387 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286523.5:c.1325G>C p.Cys442Ser p.C442S ENST00000286523 NM_194278.3 442 tGt/tCt 0 Missense_Mutation C 17 C14orf43 SNP 14 C G 73275140 73275140 WashU ALB 213 genome.wustl.edu GRCh37 4 74275110 74275110 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295897.4:c.521A>T p.Tyr174Phe p.Y174F ENST00000295897 NM_000477.5 174 tAt/tTt 0 Missense_Mutation A 16 ALB SNP 4 A T 74493974 74493974 WashU DQX1 165545 genome.wustl.edu GRCh37 2 74751165 74751165 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000404568.3:c.701C>T p.Pro234Leu p.P234L ENST00000404568 NM_133637.2 234 cCc/cTc 0 Missense_Mutation G 43 DQX1 SNP 2 G A 74604673 74604673 WashU TTLL5 23093 genome.wustl.edu GRCh37 14 76249663 76249663 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298832.9:c.2776C>T p.Pro926Ser p.P926S ENST00000298832 NM_015072.4 926 Ccc/Tcc 0 Missense_Mutation C 22 TTLL5 SNP 14 T T 75319416 75319416 WashU HEXDC 284004 genome.wustl.edu GRCh37 17 80391633 80391633 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337014.6:c.382G>C p.Ala128Pro p.A128P ENST00000337014 NM_173620.2 128 Gcc/Ccc 0 Missense_Mutation G 38 HEXDC SNP 17 G C 77984922 77984922 WashU DNAAF1 123872 genome.wustl.edu GRCh37 16 84203520 84203520 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378553.5:c.1086G>A p.Lys362= p.K362= ENST00000378553 NM_178452.4 362 aaG/aaA 0 Silent G 35 LRRC50 SNP 16 G A 82761021 82761021 WashU CREBZF 58487 genome.wustl.edu GRCh37 11 85375255 85375255 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000527447.1:c.665G>T p.Arg222Leu p.R222L ENST00000527447 NM_001039618.2 222 cGa/cTa 0 Missense_Mutation C 31 CREBZF SNP 11 C A 85052903 85052903 WashU SLITRK6 84189 genome.wustl.edu GRCh37 13 86370361 86370361 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400286.2:c.283C>A p.Leu95Ile p.L95I ENST00000400286 NM_032229.2 95 Ctt/Att 0 Missense_Mutation G 35 SLITRK6 SNP 13 G T 85268362 85268362 WashU KLHL4 56062 genome.wustl.edu GRCh37 X 86873049 86873049 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373114.4:c.842C>A p.Pro281His p.P281H ENST00000373114 NM_057162.2 281 cCt/cAt 0 Missense_Mutation C 24 KLHL4 SNP 23 C A 86759705 86759705 WashU RMND5A 64795 genome.wustl.edu GRCh37 2 86992174 86992174 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000283632.4:c.546G>C p.Met182Ile p.M182I ENST00000283632 NM_022780.3 182 atG/atC 0 Missense_Mutation G 46 RMND5A SNP 2 G C 86845685 86845685 WashU PTPN13 5783 genome.wustl.edu GRCh37 4 87680198 87680198 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000436978.1:c.3525C>G p.Ile1175Met p.I1175M ENST00000436978 NM_080685.2 1175 atC/atG 0 Missense_Mutation C 32 PTPN13 SNP 4 C G 87899222 87899222 WashU SPG7 6687 genome.wustl.edu GRCh37 16 89603290 89603290 + intron_variant Intron SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268704.2:c.1324+4246C>T *442* ENST00000268704 NM_003119.2 0 Missense_Mutation C 31 SPG7 SNP 16 C T 88130791 88130791 WashU RPIA 22934 genome.wustl.edu GRCh37 2 89028821 89028821 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000283646.4:c.428G>A p.Gly143Asp p.G143D ENST00000283646 NM_144563.2 143 gGc/gAc 0 Missense_Mutation G 42 RPIA SNP 2 G A 88809936 88809936 WashU NRDE2 55051 genome.wustl.edu GRCh37 14 90784449 90784449 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354366.3:c.73T>G p.Trp25Gly p.W25G ENST00000354366 NM_017970.3 25 Tgg/Ggg 0 Missense_Mutation A 7 C14orf102 SNP 14 A C 89854202 89854202 WashU PROSP genome.wustl.edu GRCh37 3 90255197 90255197 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000474651.1:n.1757G>T *586* ENST00000474651 0 Missense_Mutation C 28 ENSG00000189002 SNP 3 C A 90337887 90337887 WashU CCDC18 343099 genome.wustl.edu GRCh37 1 93677660 93677660 + missense_variant,splice_region_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370276.1:c.1498T>G p.Ile500Ser p.I500S ENST00000370276 500 aTt/aGt 0 Missense_Mutation T 52 CCDC18 SNP 1 T G 93450248 93450248 WashU GPR83 10888 genome.wustl.edu GRCh37 11 94113378 94113378 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000243673.2:c.1209C>A p.Thr403= p.T403= ENST00000243673 NM_016540.3 403 acC/acA 0 Silent G 35 GPR83 SNP 11 G T 93753026 93753026 WashU SERPINA10 51156 genome.wustl.edu GRCh37 14 94750327 94750327 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393096.1:c.1310G>T p.Arg437Met p.R437M ENST00000393096 NM_016186.2 437 aGg/aTg 0 Missense_Mutation C 24 SERPINA10 SNP 14 A A 93820080 93820080 WashU C9orf129 445577 genome.wustl.edu GRCh37 9 96080830 96080830 + splice_region_variant,synonymous_variant Splice_Region SNP T T A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375419.1:c.441A>T p.Ala147= p.A147= ENST00000375419 NM_001098808.1 147 gcA/gcT 0 Silent T 55 C9orf129 SNP 9 T A 95120651 95120651 WashU DYNC1I1 1780 genome.wustl.edu GRCh37 7 95442627 95442627 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324972.6:c.343G>A p.Gly115Ser p.G115S ENST00000324972 NM_004411.4 115 Ggc/Agc 0 Missense_Mutation G 35 DYNC1I1 SNP 7 G A 95280563 95280563 WashU CYP2C19 1557 genome.wustl.edu GRCh37 10 96612532 96612532 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371321.3:c.1334T>A p.Leu445Gln p.L445Q ENST00000371321 NM_000769.1 445 cTg/cAg 0 Missense_Mutation T 55 CYP2C19 SNP 10 T A 96602522 96602522 WashU ZSCAN25 221785 genome.wustl.edu GRCh37 7 99219046 99219046 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394152.2:c.438C>T p.Gly146= p.G146= ENST00000394152 NM_145115.2 146 ggC/ggT 0 Silent C 27 ZNF498 SNP 7 C T 99056982 99056982 WashU NAT16 375607 genome.wustl.edu GRCh37 7 100817976 100817976 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300303.2:c.113C>A p.Ala38Asp p.A38D ENST00000300303 NM_198571.2 38 gCc/gAc 0 Missense_Mutation G 42 C7orf52 SNP 7 G T 100604696 100604696 WashU ZNHIT1 10467 genome.wustl.edu GRCh37 7 100867095 100867095 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000305105.2:c.415C>T p.Arg139Cys p.R139C ENST00000305105 NM_006349.2 139 Cgc/Tgc 0 Missense_Mutation C 27 ZNHIT1 SNP 7 C T 100653815 100653815 WashU COL11A1 1301 genome.wustl.edu GRCh37 1 103347309 103347309 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370096.3:c.4984T>A p.Ser1662Thr p.S1662T ENST00000370096 NM_001854.3 1662 Tca/Aca 0 Missense_Mutation A 12 COL11A1 SNP 1 A T 103119897 103119897 WashU GPR132 29933 genome.wustl.edu GRCh37 14 105518039 105518039 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329797.3:c.435G>A p.Val145= p.V145= ENST00000329797 NM_013345.3 145 gtG/gtA 0 Silent C 17 GPR132 SNP 14 C T 104589084 104589084 WashU CCDC147 159686 genome.wustl.edu GRCh37 10 106118153 106118153 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369704.3:c.64G>C p.Asp22His p.D22H ENST00000369704 NM_001008723.1 22 Gat/Cat 0 Missense_Mutation G 33 CCDC147 SNP 10 G C 106108143 106108143 WashU SSH1 54434 genome.wustl.edu GRCh37 12 109192923 109192923 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326495.5:c.1202C>T p.Ala401Val p.A401V ENST00000326495 NM_018984.3 401 gCc/gTc 0 Missense_Mutation G 42 SSH1 SNP 12 G A 107717052 107717052 WashU FOXN4 121643 genome.wustl.edu GRCh37 12 109725663 109725663 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G A A G A Unknown Valid LOH 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299162.5:c.454C>T p.Pro152Ser p.P152S ENST00000299162 NM_213596.2 152 Ccg/Tcg 0 Missense_Mutation G 43 FOXN4 SNP 12 A A 108210046 108210046 WashU ZNF277 11179 genome.wustl.edu GRCh37 7 111936289 111936289 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361822.3:c.388C>A p.Gln130Lys p.Q130K ENST00000361822 NM_021994.2 130 Caa/Aaa 0 Missense_Mutation C 17 ZNF277 SNP 7 C A 111723525 111723525 WashU CSMD3 114788 genome.wustl.edu GRCh37 8 113326672 113326672 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297405.5:c.7535T>A p.Leu2512His p.L2512H ENST00000297405 NM_198123.1 2512 cTt/cAt 0 Missense_Mutation A 3 CSMD3 SNP 8 A T 113395848 113395848 WashU TCF7L2 6934 genome.wustl.edu GRCh37 10 114849161 114849161 + intron_variant Intron SNP C C G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000543371.1:c.552+49276C>G *184* ENST00000543371 NM_001198531.1 0 Missense_Mutation C 26 TCF7L2 SNP 10 C G 114839151 114839151 WashU NOS1 4842 genome.wustl.edu GRCh37 12 117693815 117693815 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338101.4:c.2559C>A p.Pro853= p.P853= ENST00000338101 853 ccC/ccA 0 Silent G 43 NOS1 SNP 12 G T 116178198 116178198 WashU EXT1 2131 genome.wustl.edu GRCh37 8 118825129 118825129 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378204.2:c.1704G>A p.Thr568= p.T568= ENST00000378204 NM_000127.2 568 acG/acA 0 Silent C 23 EXT1 SNP 8 C T 118894310 118894310 WashU CCDC64 92558 genome.wustl.edu GRCh37 12 120518690 120518690 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397558.2:c.1309-1G>C p.X437_splice ENST00000397558 NM_207311.2 0 Splice_Site_SNP G 35 CCDC64 SNP 12 G C 119003073 119003073 WashU TLR4 7099 genome.wustl.edu GRCh37 9 120470866 120470866 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355622.6:c.119G>T p.Cys40Phe p.C40F ENST00000355622 NM_138557.2 40 tGc/tTc 0 Missense_Mutation G 46 TLR4 SNP 9 G T 119510687 119510687 WashU ZNF697 90874 genome.wustl.edu GRCh37 1 120168565 120168565 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000421812.2:c.159G>A p.Pro53= p.P53= ENST00000421812 NM_001080470.1 53 ccG/ccA 0 Silent C 23 ZNF697 SNP 1 C T 119970088 119970088 WashU BAG3 9531 genome.wustl.edu GRCh37 10 121432113 121432113 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369085.3:c.854C>T p.Thr285Met p.T285M ENST00000369085 NM_004281.3 285 aCg/aTg 0 Missense_Mutation C 19 BAG3 SNP 10 C T 121422103 121422103 WashU CCDC62 84660 genome.wustl.edu GRCh37 12 123290717 123290717 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253079.6:c.1726G>A p.Asp576Asn p.D576N ENST00000253079 NM_201435.4 576 Gat/Aat 0 Missense_Mutation G 33 CCDC62 SNP 12 G A 121856670 121856670 WashU DNAH10 196385 genome.wustl.edu GRCh37 12 124289498 124289498 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409039.3:c.2544C>A p.His848Gln p.H848Q ENST00000409039 NM_207437.3 848 caC/caA 0 Missense_Mutation C 17 DNAH10 SNP 12 C A 122855451 122855451 WashU DNAH10 196385 genome.wustl.edu GRCh37 12 124297818 124297818 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409039.3:c.2898T>A p.Pro966= p.P966= ENST00000409039 NM_207437.3 966 ccT/ccA 0 Silent T 54 DNAH10 SNP 12 T A 122863771 122863771 WashU GOLGB1 2804 genome.wustl.edu GRCh37 3 121415560 121415560 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393667.3:c.3810A>T p.Glu1270Asp p.E1270D ENST00000393667 NM_001256486.1 1270 gaA/gaT 0 Missense_Mutation T 60 GOLGB1 SNP 3 T A 122898250 122898250 WashU ZNF202 7753 genome.wustl.edu GRCh37 11 123597493 123597493 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336139.4:c.1159A>G p.Thr387Ala p.T387A ENST00000336139 387 Aca/Gca 0 Missense_Mutation T 57 ZNF202 SNP 11 C C 123102703 123102703 WashU FAM162A 26355 genome.wustl.edu GRCh37 3 122123190 122123190 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000477892.1:c.243T>C p.Asp81= p.D81= ENST00000477892 NM_014367.3 81 gaT/gaC 0 Silent T 51 FAM162A SNP 3 T C 123605880 123605880 WashU VSIG2 23584 genome.wustl.edu GRCh37 11 124618354 124618354 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326621.5:c.783C>T p.Phe261= p.F261= ENST00000326621 NM_014312.3 261 ttC/ttT 0 Silent G 33 VSIG2 SNP 11 A A 124123564 124123564 WashU SEMA5B 54437 genome.wustl.edu GRCh37 3 122679987 122679987 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000451055.2:c.286G>T p.Gly96Cys p.G96C ENST00000451055 NM_001256347.1 96 Ggt/Tgt 0 Missense_Mutation C 22 SEMA5B SNP 3 C A 124162677 124162677 WashU ZHX1 11244 genome.wustl.edu GRCh37 8 124267211 124267211 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395571.3:c.976G>T p.Glu326Ter p.E326* ENST00000395571 NM_007222.4 326 Gaa/Taa 0 Nonsense_Mutation C 30 ZHX1 SNP 8 C A 124336392 124336392 WashU RPL35 11224 genome.wustl.edu GRCh37 9 127620287 127620287 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000348462.3:c.282G>A p.Arg94= p.R94= ENST00000348462 NM_007209.3 94 cgG/cgA 0 Silent C 26 RPL35 SNP 9 C T 126660108 126660108 WashU GPR119 139760 genome.wustl.edu GRCh37 X 129518509 129518509 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276218.2:c.913C>T p.Leu305Phe p.L305F ENST00000276218 NM_178471.2 305 Ctc/Ttc 0 Missense_Mutation G 35 GPR119 SNP 23 G A 129346190 129346190 WashU ST14 6768 genome.wustl.edu GRCh37 11 130070005 130070005 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000278742.5:c.1967A>C p.His656Pro p.H656P ENST00000278742 NM_021978.3 656 cAc/cCc 0 Missense_Mutation A 6 ST14 SNP 11 A C 129575215 129575215 WashU IL3 3562 genome.wustl.edu GRCh37 5 131398245 131398245 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296870.2:c.321C>A p.Ala107= p.A107= ENST00000296870 NM_000588.3 107 gcC/gcA 0 Silent C 21 IL3 SNP 5 C A 131426144 131426144 WashU PDLIM4 8572 genome.wustl.edu GRCh37 5 131607826 131607826 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253754.3:c.897G>A p.Arg299= p.R299= ENST00000253754 NM_003687.3 299 cgG/cgA 0 Silent G 42 PDLIM4 SNP 5 G A 131635725 131635725 WashU PIK3R4 30849 genome.wustl.edu GRCh37 3 130405249 130405249 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356763.3:c.3281A>C p.Glu1094Ala p.E1094A ENST00000356763 NM_014602.2 1094 gAg/gCg 0 Missense_Mutation T 54 PIK3R4 SNP 3 T G 131887939 131887939 WashU SPOCK1 6695 genome.wustl.edu GRCh37 5 136328278 136328278 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394945.1:c.601A>C p.Lys201Gln p.K201Q ENST00000394945 NM_004598.3 201 Aag/Cag 0 Missense_Mutation T 63 SPOCK1 SNP 5 T G 136356177 136356177 WashU PSD2 84249 genome.wustl.edu GRCh37 5 139216581 139216581 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274710.3:c.1589A>G p.Lys530Arg p.K530R ENST00000274710 NM_032289.2 530 aAg/aGg 0 Missense_Mutation A 3 PSD2 SNP 5 A G 139196765 139196765 WashU FAM135B 51059 genome.wustl.edu GRCh37 8 139180202 139180202 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395297.1:c.1194C>T p.Ile398= p.I398= ENST00000395297 NM_015912.3 398 atC/atT 0 Silent G 37 FAM135B SNP 8 G A 139249384 139249384 WashU ATR 545 genome.wustl.edu GRCh37 3 142204036 142204036 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000350721.4:c.6167A>T p.Asn2056Ile p.N2056I ENST00000350721 NM_001184.3 2056 aAc/aTc 0 Missense_Mutation T 60 ATR SNP 3 T A 143686726 143686726 WashU CYP11B1 1584 genome.wustl.edu GRCh37 8 143959174 143959174 + intron_variant Intron SNP T T C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T C T C Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000292427.4:c.396-536A>G *132* ENST00000292427 NM_000497.3 0 Missense_Mutation T 53 CYP11B1 SNP 8 T C 143956176 143956176 WashU SLITRK2 84631 genome.wustl.edu GRCh37 X 144904347 144904347 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370490.1:c.404G>A p.Ser135Asn p.S135N ENST00000370490 135 aGc/aAc 0 Missense_Mutation G 34 SLITRK2 SNP 23 G A 144712039 144712039 WashU SPINK5 11005 genome.wustl.edu GRCh37 5 147510894 147510894 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359874.3:c.3127G>C p.Val1043Leu p.V1043L ENST00000359874 NM_001127698.1 1043 Gtc/Ctc 0 Missense_Mutation G 48 SPINK5 SNP 5 G C 147491087 147491087 WashU ZNF425 155054 genome.wustl.edu GRCh37 7 148801416 148801416 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378061.2:c.1547A>G p.His516Arg p.H516R ENST00000378061 NM_001001661.2 516 cAc/cGc 0 Missense_Mutation T 59 ZNF425 SNP 7 T C 148432349 148432349 WashU CGN 57530 genome.wustl.edu GRCh37 1 151508330 151508330 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271636.7:c.3153G>A p.Glu1051= p.E1051= ENST00000271636 NM_020770.2 1051 gaG/gaA 0 Silent G 36 CGN SNP 1 G A 149774954 149774954 WashU LCE3E 353145 genome.wustl.edu GRCh37 1 152538458 152538458 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368789.1:c.227G>A p.Gly76Asp p.G76D ENST00000368789 NM_178435.3 76 gGt/gAt 0 Missense_Mutation C 18 LCE3E SNP 1 C T 150805082 150805082 WashU KIAA0922 23240 genome.wustl.edu GRCh37 4 154502585 154502585 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409959.3:c.765T>G p.Val255= p.V255= ENST00000409959 NM_001131007.1 255 gtT/gtG 0 Silent T 64 KIAA0922 SNP 4 T G 154722035 154722035 WashU NR4A2 4929 genome.wustl.edu GRCh37 2 157183361 157183361 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339562.4:c.1230G>T p.Leu410= p.L410= ENST00000339562 NM_006186.3 410 ctG/ctT 0 Silent C 29 NR4A2 SNP 2 C A 156891607 156891607 WashU FCRL6 343413 genome.wustl.edu GRCh37 1 159785238 159785238 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368106.3:c.1168G>C p.Val390Leu p.V390L ENST00000368106 NM_001004310.2 390 Gtg/Ctg 0 Missense_Mutation G 40 FCRL6 SNP 1 G C 158051862 158051862 WashU F5 2153 genome.wustl.edu GRCh37 1 169484764 169484764 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367797.3:c.6446A>G p.Tyr2149Cys p.Y2149C ENST00000367797 NM_000130.4 2149 tAt/tGt 0 Missense_Mutation T 49 F5 SNP 1 T C 167751388 167751388 WashU ERMARD 55780 genome.wustl.edu GRCh37 6 170179380 170179381 + missense_variant Missense_Mutation DNP GC GC AG novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 GC GC AG AG GC GC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366773.3:c.1842_1843delinsAG p.Gln615Glu p.Q615E ENST00000366773 NM_018341.2 614 caGCag/caAGag 0 Missense_Mutation GC 34 C6orf70 DNP 6 AG AG 169921306 169921305 WashU BRINP2 57795 genome.wustl.edu GRCh37 1 177250578 177250578 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361539.4:c.2266G>A p.Val756Met p.V756M ENST00000361539 NM_021165.2 756 Gtg/Atg 0 Missense_Mutation G 44 FAM5B SNP 1 G A 175517201 175517201 WashU TTN 7273 genome.wustl.edu GRCh37 2 179485027 179485027 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.46221C>T p.Asp15407= p.D15407= ENST00000589042 NM_001267550.1 15407 gaC/gaT 0 Silent G 40 TTN SNP 2 G A 179193272 179193272 WashU TTN 7273 genome.wustl.edu GRCh37 2 179498582 179498582 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.42644T>A p.Val14215Asp p.V14215D ENST00000589042 NM_001267550.1 14215 gTc/gAc 0 Missense_Mutation A 10 TTN SNP 2 A T 179206827 179206827 WashU TTN 7273 genome.wustl.edu GRCh37 2 179613555 179613555 + intron_variant Intron SNP A A G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000589042.1:c.11311+4296T>C *3771* ENST00000589042 NM_001267550.1 0 Silent A 4 TTN SNP 2 A G 179321800 179321800 WashU ING2 3622 genome.wustl.edu GRCh37 4 184432021 184432021 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302327.3:c.759G>T p.Trp253Cys p.W253C ENST00000302327 NM_001564.2 253 tgG/tgT 0 Missense_Mutation G 44 ING2 SNP 4 G T 184669015 184669015 WashU TLR3 7098 genome.wustl.edu GRCh37 4 187003624 187003624 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296795.3:c.784A>G p.Thr262Ala p.T262A ENST00000296795 NM_003265.2 262 Acc/Gcc 0 Missense_Mutation A 6 TLR3 SNP 4 A G 187240618 187240618 WashU KCNH1 3756 genome.wustl.edu GRCh37 1 211192125 211192125 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271751.4:c.1032G>T p.Gln344His p.Q344H ENST00000271751 344 caG/caT 0 Missense_Mutation C 24 KCNH1 SNP 1 C A 209258748 209258748 WashU USH2A 7399 genome.wustl.edu GRCh37 1 216144095 216144095 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307340.3:c.6829T>C p.Tyr2277His p.Y2277H ENST00000307340 NM_206933.2 2277 Tat/Cat 0 Missense_Mutation A 16 USH2A SNP 1 A G 214210718 214210718 WashU TMEM63A 9725 genome.wustl.edu GRCh37 1 226034785 226034785 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366835.3:c.2380C>T p.Gln794Ter p.Q794* ENST00000366835 NM_014698.2 794 Cag/Tag 0 Nonsense_Mutation G 46 TMEM63A SNP 1 G A 224101408 224101408 WashU WNT9A 7483 genome.wustl.edu GRCh37 1 228111898 228111898 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000272164.5:c.556C>T p.Arg186Trp p.R186W ENST00000272164 NM_003395.2 186 Cgg/Tgg 0 Missense_Mutation G 40 WNT9A SNP 1 G A 226178521 226178521 WashU SP110 3431 genome.wustl.edu GRCh37 2 231077539 231077539 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258381.6:c.520C>G p.Pro174Ala p.P174A ENST00000258381 NM_080424.2 174 Ccc/Gcc 0 Missense_Mutation G 42 SP110 SNP 2 G C 230785783 230785783 WashU TEF 7008 genome.wustl.edu GRCh37 22 41783493 41783498 + inframe_deletion In_Frame_Del DEL TGGACC TGGACC - novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 TGGACC TGGACC TGGACC - TGGACC TGGACC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000266304.4:c.300_305del p.Leu101_Asp102del p.L101_D102del ENST00000266304 NM_003216.3 99 aTGGACCtg/atg 0 In_Frame_Del TGGACC 51 TEF DEL 22 TGGACC - 40113444 40113439 WashU CNGA1 1259 genome.wustl.edu GRCh37 4 47939452 47939455 + frameshift_variant Frame_Shift_Del DEL AAGG AAGG TA novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 GACCAGTAAAGG GACCAGTAAAGG GACCAGTAAAGG TA GACCAGTAAAGG GACCAGTAAAGG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000402813.3:c.1263_1266delinsTA p.Leu422IlefsTer12 p.L422Ifs*12 ENST00000402813 421 agCCTT/agTA 0 Frame_Shift_Del GACCAGTAAAGG 1 CNGA1 DEL 4 GACCAGTAAAGG TA 47634212 47634209 WashU COL9A1 1297 genome.wustl.edu GRCh37 6 70942435 70942459 + frameshift_variant Frame_Shift_Del DEL TCTGGACGCTTAAGACTGGCAGCCA TCTGGACGCTTAAGACTGGCAGCCA - novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 TCTGGACGCTTAAGACTGGCAGCCA TCTGGACGCTTAAGACTGGCAGCCA TCTGGACGCTTAAGACTGGCAGCCA - TCTGGACGCTTAAGACTGGCAGCCA TCTGGACGCTTAAGACTGGCAGCCA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357250.6:c.2330_2354del p.Met777ThrfsTer46 p.M777Tfs*46 ENST00000357250 NM_001851.4 777 aTGGCTGCCAGTCTTAAGCGTCCAGAc/ac 0 Frame_Shift_Del TCTGGACGCTTAAGACTGGCAGCCA 58 COL9A1 DEL 6 TCTGGACGCTTAAGACTGGCAGCCA - 70999180 70999156 WashU SPEG 10290 genome.wustl.edu GRCh37 2 220315878 220315910 + inframe_deletion In_Frame_Del DEL GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT - novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT - GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312358.7:c.2138_2170del p.Ser713_Val723del p.S713_V723del ENST00000312358 NM_005876.4 712 GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT/- 0 In_Frame_Del GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT 40 SPEG DEL 2 GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT - 220024154 220024122 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577144 7577144 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000269305.4:c.794T>C p.Leu265Pro p.L265P ENST00000269305 NM_001126112.2 265 cTg/cCg 0 Missense_Mutation A 7 TP53 SNP 17 A G 7517869 7517869 WashU LRP1 4035 genome.wustl.edu GRCh37 12 57571280 57571280 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000243077.3:c.4267C>T p.Arg1423Cys p.R1423C ENST00000243077 NM_002332.2 1423 Cgc/Tgc 0 Missense_Mutation C 27 LRP1 SNP 12 C T 55857547 55857547 WashU RAB3IP 117177 genome.wustl.edu GRCh37 12 70133640 70133640 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000550536.1:c.14A>C p.Lys5Thr p.K5T ENST00000550536 NM_175623.3 5 aAg/aCg 0 Missense_Mutation A 3 RAB3IP SNP 12 A C 68419907 68419907 WashU KIR3DL3 115653 genome.wustl.edu GRCh37 19 55239325 55239325 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000291860.1:c.604T>A p.Leu202Ile p.L202I ENST00000291860 NM_153443.3 202 Tta/Ata 0 Missense_Mutation T 56 KIR3DL3 SNP 19 T A 59931137 59931137 WashU TMEM108 66000 genome.wustl.edu GRCh37 3 133099844 133099844 + missense_variant Missense_Mutation SNP T T A Unknown TCGA-13-0760-01 TCGA-13-0760-10 T T T A T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000321871.6:c.1289T>A p.Leu430His p.L430H ENST00000321871 NM_001136469.1 430 cTc/cAc 0 Missense_Mutation T 54 TMEM108 SNP 3 T A 134582534 134582534 WashU ERMARD 55780 genome.wustl.edu GRCh37 6 170179381 170179381 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366773.3:c.1843C>G p.Gln615Glu p.Q615E ENST00000366773 NM_018341.2 615 Cag/Gag 0 Missense_Mutation C 25 C6orf70 SNP 6 G G 169921306 169921306 WashU RREB1 6239 genome.wustl.edu GRCh37 6 7230677 7230677 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379938.2:c.2345G>T p.Gly782Val p.G782V ENST00000379938 NM_001003700.1 782 gGg/gTg 0 Missense_Mutation G 43 RREB1 SNP 6 G T 7175676 7175676 WashU TLR4 7099 genome.wustl.edu GRCh37 9 120476846 120476846 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000355622.6:c.2440G>A p.Ala814Thr p.A814T ENST00000355622 NM_138557.2 814 Gcc/Acc 0 Missense_Mutation G 34 TLR4 SNP 9 G A 119516667 119516667 WashU CNGA1 1259 genome.wustl.edu GRCh37 4 47939444 47939449 + inframe_deletion In_Frame_Del DEL GACCAG GACCAG - Unknown TCGA-13-0760-01 TCGA-13-0760-10 GACCAG GACCAG GACCAG - GACCAG GACCAG Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000402813.3:c.1269_1274del p.Trp424_Ser425del p.W424_S425del ENST00000402813 423 taCTGGTCt/tat 0 In_Frame_Del GACCAG 33 CNGA1 DEL 4 GACCAG - 47634206 47634201 WashU LAMA4 3910 genome.wustl.edu GRCh37 6 112575331 112575347 + frameshift_variant Frame_Shift_Del DEL GCCAGGCTGAGCTCAAA GCCAGGCTGAGCTCAAA - Unknown TCGA-13-0760-01 TCGA-13-0760-10 GCCAGGCTGAGCTCAAA GCCAGGCTGAGCTCAAA GCCAGGCTGAGCTCAAA - GCCAGGCTGAGCTCAAA GCCAGGCTGAGCTCAAA Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000230538.7:c.6_22del p.Ser4GlyfsTer26 p.S4Gfs*26 ENST00000230538 NM_001105206.2 2 gcTTTGAGCTCAGCCTGGCgc/gcgc 0 Frame_Shift_Del GCCAGGCTGAGCTCAAA 38 LAMA4 DEL 6 GCCAGGCTGAGCTCAAA - 112682040 112682024 WashU EIF3K 27335 genome.wustl.edu GRCh37 19 39109960 39109960 + missense_variant Missense_Mutation SNP A A G Unknown TCGA-13-0760-01 TCGA-13-0760-10 A A A G A A Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000248342.4:c.52A>G p.Ile18Val p.I18V ENST00000248342 NM_013234.2 18 Atc/Gtc 0 Missense_Mutation A 16 EIF3K SNP 19 A G 43801800 43801800 WashU CHAF1B 8208 genome.wustl.edu GRCh37 21 37758546 37758546 + missense_variant Missense_Mutation SNP G G T Unknown TCGA-13-0760-01 TCGA-13-0760-10 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000314103.5:c.112G>T p.Asp38Tyr p.D38Y ENST00000314103 NM_005441.2 38 Gac/Tac 0 Missense_Mutation G 41 CHAF1B SNP 21 G T 36680416 36680416 WashU C2CD2 25966 genome.wustl.edu GRCh37 21 43327785 43327785 + missense_variant Missense_Mutation SNP C C G Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C G C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000380486.3:c.1127G>C p.Gly376Ala p.G376A ENST00000380486 NM_015500.1 376 gGc/gCc 0 Missense_Mutation C 26 C2CD2 SNP 21 C G 42200854 42200854 WashU SLC10A3 8273 genome.wustl.edu GRCh37 X 153716442 153716442 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-13-0760-01 TCGA-13-0760-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000263512.4:c.838G>A p.Asp280Asn p.D280N ENST00000263512 NM_019848.3 280 Gac/Aac 0 Missense_Mutation C 30 SLC10A3 SNP 23 C T 153369636 153369636 WashU CHD4 1108 genome.wustl.edu GRCh37 12 6701183 6701183 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357008.2:c.2989C>T p.Leu997Phe p.L997F ENST00000357008 NM_001273.2 997 Ctc/Ttc 0 Missense_Mutation G 36 CHD4 SNP 12 G A 6571444 6571444 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577570 7577570 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.711G>T p.Met237Ile p.M237I ENST00000269305 NM_001126112.2 237 atG/atT 0 Missense_Mutation C 17 TP53 SNP 17 C A 7518295 7518295 WashU TLR8 51311 genome.wustl.edu GRCh37 X 12938881 12938881 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000218032.6:c.1722A>T p.Thr574= p.T574= ENST00000218032 NM_138636.4 574 acA/acT 0 Silent A 6 TLR8 SNP 23 A T 12848802 12848802 WashU BRD4 23476 genome.wustl.edu GRCh37 19 15376429 15376429 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263377.2:c.585G>C p.Thr195= p.T195= ENST00000263377 NM_058243.2 195 acG/acC 0 Silent C 23 BRD4 SNP 19 C G 15237429 15237429 WashU MPP7 143098 genome.wustl.edu GRCh37 10 28408644 28408644 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337532.5:c.888G>C p.Arg296Ser p.R296S ENST00000337532 NM_173496.3 296 agG/agC 0 Missense_Mutation C 30 MPP7 SNP 10 C G 28448650 28448650 WashU ZNF658 26149 genome.wustl.edu GRCh37 9 40773969 40773969 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000602553.1:c.1306G>A p.Gly436Arg p.G436R ENST00000602553 436 Gga/Aga 0 Missense_Mutation C 22 ZNF658 SNP 9 C T 40763969 40763969 WashU ZBP1 81030 genome.wustl.edu GRCh37 20 56191346 56191346 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000371173.3:c.213T>G p.Thr71= p.T71= ENST00000371173 NM_001160417.1 71 acT/acG 0 Silent A 7 ZBP1 SNP 20 A C 55624752 55624752 WashU KCNH5 27133 genome.wustl.edu GRCh37 14 63416873 63416873 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322893.7:c.1347G>A p.Ser449= p.S449= ENST00000322893 NM_139318.4 449 tcG/tcA 0 Silent C 23 KCNH5 SNP 14 C T 62486626 62486626 WashU CILP 8483 genome.wustl.edu GRCh37 15 65490724 65490724 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261883.4:c.1900A>T p.Thr634Ser p.T634S ENST00000261883 NM_003613.3 634 Aca/Tca 0 Missense_Mutation T 59 CILP SNP 15 T A 63277777 63277777 WashU SYT12 91683 genome.wustl.edu GRCh37 11 66811285 66811285 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393946.2:c.798G>T p.Gln266His p.Q266H ENST00000393946 266 caG/caT 0 Missense_Mutation G 34 SYT12 SNP 11 G T 66567861 66567861 WashU CCAR1 55749 genome.wustl.edu GRCh37 10 70496663 70496663 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265872.6:c.104T>C p.Leu35Pro p.L35P ENST00000265872 NM_018237.2 35 cTt/cCt 0 Missense_Mutation T 56 CCAR1 SNP 10 T C 70166669 70166669 WashU C10orf35 219738 genome.wustl.edu GRCh37 10 71392712 71392712 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373279.4:c.263C>A p.Pro88Gln p.P88Q ENST00000373279 NM_145306.2 88 cCg/cAg 0 Missense_Mutation C 23 C10orf35 SNP 10 C A 71062718 71062718 WashU MBTPS1 8720 genome.wustl.edu GRCh37 16 84115432 84115432 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343411.3:c.1368C>G p.Val456= p.V456= ENST00000343411 NM_003791.2 456 gtC/gtG 0 Silent G 45 MBTPS1 SNP 16 G C 82672933 82672933 WashU SPATA31D5P 347127 genome.wustl.edu GRCh37 9 84533097 84533097 + non_coding_transcript_exon_variant RNA SNP A A C novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000527857.1:n.3119A>C *1040* ENST00000527857 0 Silent A 15 ENSG00000204562 SNP 9 A C 83722917 83722917 WashU SNRNP200 23020 genome.wustl.edu GRCh37 2 96969050 96969050 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000323853.5:c.228G>C p.Glu76Asp p.E76D ENST00000323853 NM_014014.4 76 gaG/gaC 0 Missense_Mutation C 24 SNRNP200 SNP 2 C G 96332777 96332777 WashU OR5H6 79295 genome.wustl.edu GRCh37 3 97983667 97983667 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000383696.2:c.539T>C p.Phe180Ser p.F180S ENST00000383696 NM_001005479.1 180 tTc/tCc 0 Missense_Mutation T 62 OR5H6 SNP 3 T C 99466357 99466357 WashU MUC17 140453 genome.wustl.edu GRCh37 7 100686997 100686997 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306151.4:c.12300A>C p.Thr4100= p.T4100= ENST00000306151 NM_001040105.1 4100 acA/acC 0 Silent A 6 MUC17 SNP 7 A C 100473717 100473717 WashU PKD2L1 9033 genome.wustl.edu GRCh37 10 102059466 102059466 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318222.3:c.359G>T p.Gly120Val p.G120V ENST00000318222 NM_016112.2 120 gGa/gTa 0 Missense_Mutation C 30 PKD2L1 SNP 10 C A 102049456 102049456 WashU THOC2 57187 genome.wustl.edu GRCh37 X 122760388 122760388 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000245838.8:c.2883C>A p.Asp961Glu p.D961E ENST00000245838 NM_001081550.1 961 gaC/gaA 0 Missense_Mutation G 48 THOC2 SNP 23 G T 122588069 122588069 WashU MRRF 92399 genome.wustl.edu GRCh37 9 125033218 125033218 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344641.3:c.48C>T p.Arg16= p.R16= ENST00000344641 NM_138777.3 16 cgC/cgT 0 Silent C 25 MRRF SNP 9 C T 124073039 124073039 WashU DDX25 29118 genome.wustl.edu GRCh37 11 125787021 125787021 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263576.6:c.913G>C p.Glu305Gln p.E305Q ENST00000263576 NM_013264.4 305 Gag/Cag 0 Missense_Mutation G 33 DDX25 SNP 11 G C 125292231 125292231 WashU IGSF1 3547 genome.wustl.edu GRCh37 X 130408594 130408594 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370903.3:c.3745C>G p.Leu1249Val p.L1249V ENST00000370903 NM_001555.4 1249 Ctg/Gtg 0 Missense_Mutation G 35 IGSF1 SNP 23 G C 130236275 130236275 WashU PLEKHB2 55041 genome.wustl.edu GRCh37 2 131904258 131904258 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409158.1:c.605A>T p.Tyr202Phe p.Y202F ENST00000409158 202 tAt/tTt 0 Missense_Mutation A 16 PLEKHB2 SNP 2 A T 131620728 131620728 WashU NUP214 8021 genome.wustl.edu GRCh37 9 134050999 134050999 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359428.5:c.3310C>G p.Gln1104Glu p.Q1104E ENST00000359428 NM_005085.3 1104 Cag/Gag 0 Missense_Mutation C 29 NUP214 SNP 9 C G 133040820 133040820 WashU C9orf171 389799 genome.wustl.edu GRCh37 9 135374905 135374905 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343036.2:c.550C>T p.Arg184Cys p.R184C ENST00000343036 NM_207417.1 184 Cgc/Tgc 0 Missense_Mutation C 23 C9orf171 SNP 9 C T 134364726 134364726 WashU SV2A 9900 genome.wustl.edu GRCh37 1 149884907 149884907 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369146.3:c.486C>T p.Gly162= p.G162= ENST00000369146 NM_014849.4 162 ggC/ggT 0 Silent G 42 SV2A SNP 1 G A 148151531 148151531 WashU PDE6A 5145 genome.wustl.edu GRCh37 5 149324230 149324230 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000255266.5:c.7G>T p.Glu3Ter p.E3* ENST00000255266 NM_000440.2 3 Gag/Tag 0 Nonsense_Mutation C 31 PDE6A SNP 5 C A 149304423 149304423 WashU CSAG1 158511 genome.wustl.edu GRCh37 X 151909159 151909159 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370287.3:c.188G>T p.Arg63Met p.R63M ENST00000370287 NM_153478.1 63 aGg/aTg 0 Missense_Mutation G 35 CSAG1 SNP 23 G T 151659815 151659815 WashU CLIC2 1193 genome.wustl.edu GRCh37 X 154528097 154528097 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369449.2:c.293+1G>A p.X98_splice ENST00000369449 NM_001289.4 0 Splice_Site_SNP C 18 CLIC2 SNP 23 C T 154181291 154181291 WashU SCN9A 6335 genome.wustl.edu GRCh37 2 167128930 167128930 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409672.1:c.3297G>A p.Ser1099= p.S1099= ENST00000409672 NM_002977.3 1099 tcG/tcA 0 Silent C 23 SCN9A SNP 2 C T 166837176 166837176 WashU TTN 7273 genome.wustl.edu GRCh37 2 179430843 179430843 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.80016G>C p.Lys26672Asn p.K26672N ENST00000589042 NM_001267550.1 26672 aaG/aaC 0 Missense_Mutation C 20 TTN SNP 2 C G 179139089 179139089 WashU CACNA1E 777 genome.wustl.edu GRCh37 1 181708291 181708291 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367573.2:c.3621C>T p.Asp1207= p.D1207= ENST00000367573 NM_001205293.1 1207 gaC/gaT 0 Silent C 18 CACNA1E SNP 1 C T 179974914 179974914 WashU EIF2B5 8893 genome.wustl.edu GRCh37 3 183860567 183860567 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273783.3:c.1547G>A p.Gly516Glu p.G516E ENST00000273783 NM_003907.2 516 gGa/gAa 0 Missense_Mutation G 41 EIF2B5 SNP 3 G A 185343261 185343261 WashU KCNT2 343450 genome.wustl.edu GRCh37 1 196398705 196398705 + splice_donor_variant Splice_Site SNP A A T novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294725.9:c.819+2T>A p.X273_splice ENST00000294725 0 Splice_Site_SNP A 14 KCNT2 SNP 1 A T 194665328 194665328 WashU ACAP2 23527 genome.wustl.edu GRCh37 3 195013022 195013022 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326793.6:c.1925C>T p.Ala642Val p.A642V ENST00000326793 NM_012287.5 642 gCg/gTg 0 Missense_Mutation G 38 ACAP2 SNP 3 G A 196494311 196494311 WashU NUMA1 4926 genome.wustl.edu GRCh37 11 71726361 71726375 + inframe_deletion In_Frame_Del DEL CCAGGGCATCTGCAG CCAGGGCATCTGCAG - novel Unknown TCGA-13-1412-01 TCGA-13-1412-10 CCAGGGCATCTGCAG CCAGGGCATCTGCAG CCAGGGCATCTGCAG - CCAGGGCATCTGCAG CCAGGGCATCTGCAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393695.3:c.2174_2188del p.Ala725_Leu729del p.A725_L729del ENST00000393695 NM_006185.2 725 gCTGCAGATGCCCTGGaa/gaa 0 In_Frame_Del CCAGGGCATCTGCAG 30 NUMA1 DEL 11 CCAGGGCATCTGCAG - 71404023 71404009 WashU FLG 2312 genome.wustl.edu GRCh37 1 152278109 152278109 + missense_variant Missense_Mutation SNP C C G Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C G C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000368799.1:c.9253G>C p.Gly3085Arg p.G3085R ENST00000368799 NM_002016.1 3085 Gga/Cga 0 Missense_Mutation C 24 FLG SNP 1 C G 150544733 150544733 WashU KIAA1755 85449 genome.wustl.edu GRCh37 20 36841547 36841547 + missense_variant Missense_Mutation SNP C C G Unknown TCGA-13-1412-01 TCGA-13-1412-10 C C C G C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000279024.4:c.3500G>C p.Ser1167Thr p.S1167T ENST00000279024 NM_001029864.1 1167 aGc/aCc 0 Missense_Mutation C 28 KIAA1755 SNP 20 C G 36274961 36274961 WashU IRAK1 3654 genome.wustl.edu GRCh37 X 153284906 153284906 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-13-1412-01 TCGA-13-1412-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000369980.3:c.280C>T p.Arg94Cys p.R94C ENST00000369980 NM_001569.3 94 Cgt/Tgt 0 Missense_Mutation G 39 IRAK1 SNP 23 G A 152938100 152938100 WashU AJAP1 55966 broad.mit.edu GRCh37 1 4772048 4772048 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000378191.4:c.118G>A p.Ala40Thr p.A40T ENST00000378191 NM_018836.3 40 Gcc/Acc 0 Missense_Mutation G 38 AJAP1 SNP 1 G A 4671908 4671908 Broad PGD 5226 broad.mit.edu GRCh37 1 10477466 10477466 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000270776.8:c.1009C>G p.Gln337Glu p.Q337E ENST00000270776 NM_002631.2 337 Caa/Gaa 0 Missense_Mutation C 29 PGD SNP 1 C G 10400053 10400053 Broad MAPK8IP1 9479 broad.mit.edu GRCh37 11 45925671 45925671 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000241014.2:c.1625A>G p.Tyr542Cys p.Y542C ENST00000241014 NM_005456.3 542 tAt/tGt 0 Missense_Mutation A 16 MAPK8IP1 SNP 11 A G 45882247 45882247 Broad MBD6 114785 broad.mit.edu GRCh37 12 57919795 57919795 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000355673.3:c.1044C>G p.Ala348= p.A348= ENST00000355673 NM_052897.3 348 gcC/gcG 0 Silent C 22 MBD6 SNP 12 C G 56206062 56206062 Broad OR4N2 390429 broad.mit.edu GRCh37 14 20295920 20295920 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000315947.1:c.313C>T p.His105Tyr p.H105Y ENST00000315947 NM_001004723.1 105 Cac/Tac 0 Missense_Mutation C 25 OR4N2 SNP 14 C T 19365760 19365760 Broad MYH7 4625 broad.mit.edu GRCh37 14 23895227 23895227 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000355349.3:c.2108G>A p.Arg703His p.R703H ENST00000355349 NM_000257.2 703 cGc/cAc 0 Missense_Mutation C 27 MYH7 SNP 14 C T 22965067 22965067 Broad LRFN5 145581 broad.mit.edu GRCh37 14 42356011 42356011 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000298119.4:c.183T>A p.Asn61Lys p.N61K ENST00000298119 NM_152447.3 61 aaT/aaA 0 Missense_Mutation T 52 LRFN5 SNP 14 T A 41425761 41425761 Broad DNAJA3 9093 broad.mit.edu GRCh37 16 4491520 4491520 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000262375.6:c.574G>A p.Glu192Lys p.E192K ENST00000262375 NM_005147.5 192 Gag/Aag 0 Missense_Mutation G 37 DNAJA3 SNP 16 G A 4431521 4431521 Broad TP53 7157 broad.mit.edu GRCh37 17 7577539 7577539 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.742C>T p.Arg248Trp p.R248W ENST00000269305 NM_001126112.2 248 Cgg/Tgg 0 Missense_Mutation G 39 TP53 SNP 17 G A 7518264 7518264 Broad ARHGEF18 23370 broad.mit.edu GRCh37 19 7506889 7506889 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000359920.6:c.747C>T p.Tyr249= p.Y249= ENST00000359920 NM_001130955.1 249 taC/taT 0 Silent C 19 ARHGEF18 SNP 19 C T 7412889 7412889 Broad ZNF324B 388569 broad.mit.edu GRCh37 19 58965677 58965677 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000336614.4:c.204C>T p.Thr68= p.T68= ENST00000336614 NM_207395.2 68 acC/acT 0 Silent C 22 ZNF324B SNP 19 C T 63657489 63657489 Broad TPO 7173 broad.mit.edu GRCh37 2 1488400 1488400 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000345913.4:c.1371C>T p.Ile457= p.I457= ENST00000345913 NM_000547.5 457 atC/atT 0 Silent C 30 TPO SNP 2 C T 1467407 1467407 Broad SDC1 6382 broad.mit.edu GRCh37 2 20403741 20403741 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000381150.1:c.460C>T p.His154Tyr p.H154Y ENST00000381150 NM_001006946.1 154 Cac/Tac 0 Missense_Mutation G 47 SDC1 SNP 2 G A 20267222 20267222 Broad PTCD3 55037 broad.mit.edu GRCh37 2 86352130 86352130 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000254630.7:c.729C>T p.Asn243= p.N243= ENST00000254630 NM_017952.5 243 aaC/aaT 0 Silent C 19 PTCD3 SNP 2 C T 86205641 86205641 Broad SGOL2 151246 broad.mit.edu GRCh37 2 201437638 201437638 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000357799.4:c.2569C>G p.Gln857Glu p.Q857E ENST00000357799 NM_152524.5 857 Caa/Gaa 0 Missense_Mutation C 17 SGOL2 SNP 2 C G 201145883 201145883 Broad IQCA1 79781 broad.mit.edu GRCh37 2 237395522 237395522 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000409907.3:c.670C>T p.Arg224Cys p.R224C ENST00000409907 NM_024726.4 224 Cgt/Tgt 0 Missense_Mutation G 40 IQCA1 SNP 2 G A 237060261 237060261 Broad SH3D19 152503 broad.mit.edu GRCh37 4 152048856 152048856 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000304527.4:c.2170A>C p.Ser724Arg p.S724R ENST00000304527 NM_001009555.3 724 Agt/Cgt 0 Missense_Mutation T 56 SH3D19 SNP 4 T G 152268306 152268306 Broad THBS2 7058 broad.mit.edu GRCh37 6 169650827 169650827 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000366787.3:c.52+1G>A p.X18_splice ENST00000366787 NM_003247.2 0 Splice_Site_SNP C 18 THBS2 SNP 6 C T 169392752 169392752 Broad GPR141 353345 broad.mit.edu GRCh37 7 37780909 37780909 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000447769.1:c.914G>A p.Arg305His p.R305H ENST00000447769 305 cGt/cAt 0 Missense_Mutation G 40 GPR141 SNP 7 G A 37747434 37747434 Broad PCM1 5108 broad.mit.edu GRCh37 8 17872112 17872112 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000325083.8:c.5604T>C p.Pro1868= p.P1868= ENST00000325083 NM_006197.3 1868 ccT/ccC 0 Silent T 55 PCM1 SNP 8 T C 17916392 17916392 Broad C8orf58 541565 broad.mit.edu GRCh37 8 22458465 22458465 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000289989.5:c.111C>A p.Pro37= p.P37= ENST00000289989 37 ccC/ccA 0 Silent C 23 C8orf58 SNP 8 C A 22514410 22514410 Broad VPS13B 157680 broad.mit.edu GRCh37 8 100866458 100866458 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000358544.2:c.10916A>G p.Tyr3639Cys p.Y3639C ENST00000358544 NM_017890.4 3639 tAt/tGt 0 Missense_Mutation A 16 VPS13B SNP 8 A G 100935634 100935634 Broad DEPTOR 64798 broad.mit.edu GRCh37 8 120886193 120886193 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000286234.5:c.107C>G p.Thr36Ser p.T36S ENST00000286234 NM_022783.2 36 aCc/aGc 0 Missense_Mutation C 18 DEPDC6 SNP 8 C G 120955374 120955374 Broad S1PR3 1903 broad.mit.edu GRCh37 9 91616533 91616533 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000375846.3:c.418A>G p.Met140Val p.M140V ENST00000375846 140 Atg/Gtg 0 Missense_Mutation A 4 S1PR3 SNP 9 A G 90806353 90806353 Broad HABP4 22927 broad.mit.edu GRCh37 9 99220728 99220728 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000375249.4:c.417G>A p.Met139Ile p.M139I ENST00000375249 NM_014282.2 139 atG/atA 0 Missense_Mutation G 46 HABP4 SNP 9 G A 98260549 98260549 Broad OR1L1 26737 broad.mit.edu GRCh37 9 125424243 125424243 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000309623.1:c.249G>A p.Val83= p.V83= ENST00000309623 NM_001005236.3 83 gtG/gtA 0 Silent G 45 OR1L1 SNP 9 G A 124464064 124464064 Broad ENG 2022 broad.mit.edu GRCh37 9 130587574 130587574 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown x x x ENST00000373203.4:c.752T>C p.Leu251Pro p.L251P ENST00000373203 NM_000118.3 251 cTc/cCc 0 Missense_Mutation A 11 ENG SNP 9 A G 129627395 129627395 Broad APOB 338 broad.mit.edu GRCh37 2 21225955 21225979 + frameshift_variant Frame_Shift_Del DEL CTCAGCATTGTTCTGCAGATTTCTT CTCAGCATTGTTCTGCAGATTTCTT - novel Unknown TCGA-25-2409-01 TCGA-25-2409-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000233242.1:c.12315_12339del p.Arg4105SerfsTer16 p.R4105Sfs*16 ENST00000233242 NM_000384.2 4105 agAAGAAATCTGCAGAACAATGCTGAG/ag 0 Frame_Shift_Del CTCAGCATTGTTCTGCAGATTTCTT 20 APOB DEL 2 - CTCAGCATTGTTCTGCAGATTTCTT 21079484 21079460 Broad VPS13D 55187 broad.mit.edu GRCh37 1 12475241 12475241 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000358136.3:c.12132C>T p.Phe4044= p.F4044= ENST00000358136 NM_015378.2 4044 ttC/ttT 0 Silent C 29 VPS13D SNP 1 C T 12397828 12397828 Broad ATP13A2 23400 broad.mit.edu GRCh37 1 17326929 17326930 + missense_variant Missense_Mutation DNP AT AT GA novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000326735.8:c.805_806delinsTC p.Ile269Ser p.I269S ENST00000326735 269 ATc/TCc 0 Missense_Mutation AT 12 ATP13A2 DNP 1 AT GA 17199517 17199516 Broad GRHL3 57822 broad.mit.edu GRCh37 1 24664220 24664220 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000350501.5:c.781G>A p.Val261Ile p.V261I ENST00000350501 NM_198174.2 261 Gtc/Atc 0 Missense_Mutation G 40 GRHL3 SNP 1 G A 24536807 24536807 Broad RLF 6018 broad.mit.edu GRCh37 1 40705034 40705034 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000372771.4:c.4660C>A p.Gln1554Lys p.Q1554K ENST00000372771 NM_012421.3 1554 Caa/Aaa 0 Missense_Mutation C 29 RLF SNP 1 C A 40477621 40477621 Broad SCP2 6342 broad.mit.edu GRCh37 1 53453793 53453793 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000371514.3:c.1066C>T p.Pro356Ser p.P356S ENST00000371514 NM_002979.4 356 Cca/Tca 0 Missense_Mutation C 22 SCP2 SNP 1 C T 53226381 53226381 Broad PCSK9 255738 broad.mit.edu GRCh37 1 55527134 55527135 + missense_variant Missense_Mutation DNP GG GG AA novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000302118.5:c.1768_1769delinsAA p.Gly590Asn p.G590N ENST00000302118 NM_174936.3 590 GGc/AAc 0 Missense_Mutation GG 43 PCSK9 DNP 1 GG AA 55299723 55299722 Broad ALG14 199857 broad.mit.edu GRCh37 1 95492697 95492697 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000370205.5:c.408G>A p.Val136= p.V136= ENST00000370205 NM_144988.3 136 gtG/gtA 0 Silent C 29 ALG14 SNP 1 C T 95265285 95265285 Broad NRAS 4893 broad.mit.edu GRCh37 1 115256529 115256529 + missense_variant Missense_Mutation SNP T T C rs11554290 byHapMap TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000369535.4:c.182A>G p.Gln61Arg p.Q61R ENST00000369535 NM_002524.4 61 cAa/cGa 0 Missense_Mutation T 63 NRAS SNP 1 T C 115058052 115058052 Broad NOTCH2 4853 broad.mit.edu GRCh37 1 120458689 120458689 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000256646.2:c.6656C>T p.Pro2219Leu p.P2219L ENST00000256646 NM_024408.3 2219 cCc/cTc 0 Missense_Mutation G 43 NOTCH2 SNP 1 G A 120260212 120260212 Broad RFX5 5993 broad.mit.edu GRCh37 1 151314767 151314767 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000290524.4:c.1746N>A p.Lys582= p.K582= ENST00000290524 NM_000449.3 582 aaG/aaA 0 Silent C 24 RFX5 SNP 1 C T 149581391 149581391 Broad ATP8B2 57198 broad.mit.edu GRCh37 1 154303355 154303356 + missense_variant Missense_Mutation DNP AG AG GC novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000368489.3:c.254_255delinsGC p.Gln85Arg p.Q85R ENST00000368489 NM_020452.3 85 cAG/cGC 0 Missense_Mutation AG 7 ATP8B2 DNP 1 AG GC 152569980 152569979 Broad GBA 2629 broad.mit.edu GRCh37 1 155208380 155208380 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000327247.5:c.516C>A p.Tyr172Ter p.Y172* ENST00000327247 NM_001005742.2 172 taC/taA 0 Nonsense_Mutation G 48 GBA SNP 1 G T 153475004 153475004 Broad TNN 63923 broad.mit.edu GRCh37 1 175054549 175054550 + missense_variant Missense_Mutation DNP CC CC AG novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000239462.4:c.1243_1244delinsAG p.Pro415Arg p.P415R ENST00000239462 NM_022093.1 415 CCg/AGg 0 Missense_Mutation CC 22 TNN DNP 1 CC AG 173321173 173321172 Broad SOX13 9580 broad.mit.edu GRCh37 1 204083544 204083544 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000367204.1:c.315C>G p.Asn105Lys p.N105K ENST00000367204 NM_005686.2 105 aaC/aaG 0 Missense_Mutation C 18 SOX13 SNP 1 C G 202350167 202350167 Broad MCM10 55388 broad.mit.edu GRCh37 10 13228183 13228183 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000484800.2:c.1121A>T p.His374Leu p.H374L ENST00000484800 374 cAt/cTt 0 Missense_Mutation A 8 MCM10 SNP 10 A T 13268189 13268189 Broad KAT6B 23522 broad.mit.edu GRCh37 10 76790646 76790646 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000287239.4:c.6064C>T p.Gln2022Ter p.Q2022* ENST00000287239 NM_001256468.1 2022 Cag/Tag 0 Nonsense_Mutation C 25 MYST4 SNP 10 C T 76460652 76460652 Broad ANKRD2 26287 broad.mit.edu GRCh37 10 99343396 99343396 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000307518.5:c.997C>A p.His333Asn p.H333N ENST00000307518 333 Cat/Aat 0 Missense_Mutation C 25 ANKRD2 SNP 10 C A 99333386 99333386 Broad KAZALD1 81621 broad.mit.edu GRCh37 10 102822665 102822665 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000370200.5:c.316C>G p.Leu106Val p.L106V ENST00000370200 NM_030929.4 106 Ctt/Gtt 0 Missense_Mutation C 28 KAZALD1 SNP 10 C G 102812655 102812655 Broad JAKMIP3 282973 broad.mit.edu GRCh37 10 133967308 133967308 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000298622.4:c.2113A>G p.Met705Val p.M705V ENST00000298622 NM_001105521.2 705 Atg/Gtg 0 Missense_Mutation A 12 JAKMIP3 SNP 10 A G 133817298 133817298 Broad SLC22A18 5002 broad.mit.edu GRCh37 11 2946407 2946407 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000380574.1:c.1255A>T p.Arg419Trp p.R419W ENST00000380574 419 Agg/Tgg 0 Missense_Mutation A 11 SLC22A18 SNP 11 A T 2902983 2902983 Broad RRP8 23378 broad.mit.edu GRCh37 11 6624670 6624670 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000254605.6:c.63C>A p.Ile21= p.I21= ENST00000254605 NM_015324.3 21 atC/atA 0 Silent G 33 RRP8 SNP 11 G T 6581246 6581246 Broad GAL3ST3 89792 broad.mit.edu GRCh37 11 65811060 65811060 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000312006.4:c.214C>T p.His72Tyr p.H72Y ENST00000312006 NM_033036.2 72 Cac/Tac 0 Missense_Mutation G 45 GAL3ST3 SNP 11 G A 65567636 65567636 Broad TCIRG1 10312 broad.mit.edu GRCh37 11 67816658 67816658 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000265686.3:c.1784T>C p.Val595Ala p.V595A ENST00000265686 NM_006019.3 595 gTc/gCc 0 Missense_Mutation T 58 TCIRG1 SNP 11 T C 67573234 67573234 Broad CCDC90B 60492 broad.mit.edu GRCh37 11 82997014 82997014 + start_lost Translation_Start_Site SNP A A G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000529689.1:c.2T>C p.Met1? p.M1? ENST00000529689 1 aTg/aCg 0 Missense_Mutation A 8 CCDC90B SNP 11 A G 82674662 82674662 Broad FOLH1B 219595 broad.mit.edu GRCh37 11 89424196 89424197 + non_coding_transcript_exon_variant RNA DNP CA CA TT novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000525540.1:n.1372_1373delinsTT *458* ENST00000525540 0 Missense_Mutation CA 21 FOLH1B DNP 11 CA TT 89063845 89063844 Broad TREH 11181 broad.mit.edu GRCh37 11 118531350 118531350 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000264029.4:c.1000A>C p.Asn334His p.N334H ENST00000264029 NM_007180.2 334 Aac/Cac 0 Missense_Mutation T 63 TREH SNP 11 T G 118036560 118036560 Broad SORL1 6653 broad.mit.edu GRCh37 11 121391494 121391494 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000260197.7:c.1340G>C p.Gly447Ala p.G447A ENST00000260197 NM_003105.5 447 gGg/gCg 0 Missense_Mutation G 43 SORL1 SNP 11 G C 120896704 120896704 Broad GPRC5D 55507 broad.mit.edu GRCh37 12 13103173 13103173 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000228887.1:c.146G>T p.Arg49Leu p.R49L ENST00000228887 NM_018654.1 49 cGa/cTa 0 Missense_Mutation C 31 GPRC5D SNP 12 C A 12994440 12994440 Broad ENDOU 8909 broad.mit.edu GRCh37 12 48111941 48111941 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000422538.3:c.215A>G p.Glu72Gly p.E72G ENST00000422538 NM_001172439.1 72 gAg/gGg 0 Missense_Mutation T 54 ENDOU SNP 12 T C 46398208 46398208 Broad ATF1 466 broad.mit.edu GRCh37 12 51208193 51208193 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000262053.3:c.642G>C p.Leu214Phe p.L214F ENST00000262053 NM_005171.4 214 ttG/ttC 0 Missense_Mutation G 45 ATF1 SNP 12 G C 49494460 49494460 Broad ERBB3 2065 broad.mit.edu GRCh37 12 56477599 56477599 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000267101.3:c.147G>T p.Leu49= p.L49= ENST00000267101 NM_001982.3 49 ctG/ctT 0 Silent G 48 ERBB3 SNP 12 G T 54763866 54763866 Broad UHRF1BP1L 23074 broad.mit.edu GRCh37 12 100497705 100497705 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000279907.7:c.232C>T p.His78Tyr p.H78Y ENST00000279907 NM_015054.1 78 Cat/Tat 0 Missense_Mutation G 48 UHRF1BP1L SNP 12 G A 99021836 99021836 Broad TCHP 84260 broad.mit.edu GRCh37 12 110352317 110352317 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000312777.5:c.1205T>C p.Leu402Pro p.L402P ENST00000312777 NM_032300.4 402 cTg/cCg 0 Missense_Mutation T 55 TCHP SNP 12 T C 108836700 108836700 Broad DHX37 57647 broad.mit.edu GRCh37 12 125451341 125451341 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000308736.2:c.1588G>A p.Glu530Lys p.E530K ENST00000308736 NM_032656.3 530 Gag/Aag 0 Missense_Mutation C 29 DHX37 SNP 12 C T 124017294 124017294 Broad ATP8A2 51761 broad.mit.edu GRCh37 13 26153012 26153012 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000381655.2:c.1842C>T p.Cys614= p.C614= ENST00000381655 NM_016529.4 614 tgC/tgT 0 Silent C 26 ATP8A2 SNP 13 C T 25051012 25051012 Broad RNASE1 6035 broad.mit.edu GRCh37 14 21269805 21269805 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000397967.4:c.423C>A p.Ser141Arg p.S141R ENST00000397967 NM_002933.4 141 agC/agA 0 Missense_Mutation G 42 RNASE1 SNP 14 G T 20339645 20339645 Broad RAB2B 84932 broad.mit.edu GRCh37 14 21936873 21936873 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000397762.1:c.225C>A p.Tyr75Ter p.Y75* ENST00000397762 NM_032846.3 75 taC/taA 0 Nonsense_Mutation G 36 RAB2B SNP 14 G T 21006713 21006713 Broad MYH6 4624 broad.mit.edu GRCh37 14 23865927 23865927 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000405093.3:c.2268C>T p.Asn756= p.N756= ENST00000405093 NM_002471.3 756 aaC/aaT 0 Silent G 44 MYH6 SNP 14 G A 22935767 22935767 Broad BRF1 2972 broad.mit.edu GRCh37 14 105685549 105685549 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000546474.1:c.1398A>G p.Glu466= p.E466= ENST00000546474 NM_001519.3 466 gaA/gaG 0 Silent T 56 BRF1 SNP 14 T C 104756594 104756594 Broad NPAP1 23742 broad.mit.edu GRCh37 15 24921252 24921252 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000329468.2:c.238G>A p.Ala80Thr p.A80T ENST00000329468 NM_018958.2 80 Gcc/Acc 0 Missense_Mutation G 38 C15orf2 SNP 15 G A 22472345 22472345 Broad HERC2 8924 broad.mit.edu GRCh37 15 28478853 28478853 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000261609.7:c.4308C>T p.Val1436= p.V1436= ENST00000261609 NM_004667.5 1436 gtC/gtT 0 Silent G 37 HERC2 SNP 15 G A 26152448 26152448 Broad PIGB 9488 broad.mit.edu GRCh37 15 55632898 55632899 + stop_gained Nonsense_Mutation DNP TC TC GA novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000164305.5:c.935_936inv p.Phe312Ter p.F312* ENST00000164305 NM_004855.4 312 tTC/tGA 0 Nonsense_Mutation TC 62 PIGB DNP 15 TC GA 53420191 53420190 Broad IGDCC3 9543 broad.mit.edu GRCh37 15 65621480 65621480 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000327987.4:c.2212C>A p.Pro738Thr p.P738T ENST00000327987 NM_004884.3 738 Cct/Act 0 Missense_Mutation G 41 IGDCC3 SNP 15 G T 63408533 63408533 Broad CYP1A1 1543 broad.mit.edu GRCh37 15 75015355 75015356 + missense_variant Missense_Mutation DNP GG GG CC novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000379727.3:c.83_84inv p.Ala28Gly p.A28G ENST00000379727 28 gCC/gGG 0 Missense_Mutation GG 35 CYP1A1 DNP 15 GG CC 72802409 72802408 Broad POLR2C 5432 broad.mit.edu GRCh37 16 57503161 57503161 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000219252.5:c.343G>A p.Val115Ile p.V115I ENST00000219252 NM_032940.2 115 Gtc/Atc 0 Missense_Mutation G 48 POLR2C SNP 16 G A 56060662 56060662 Broad GPR114 221188 broad.mit.edu GRCh37 16 57598948 57598948 + missense_variant,splice_region_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000340339.4:c.432T>G p.Asp144Glu p.D144E ENST00000340339 NM_153837.1 144 gaT/gaG 0 Missense_Mutation T 51 GPR114 SNP 16 T G 56156449 56156449 Broad WDR59 79726 broad.mit.edu GRCh37 16 74919598 74919598 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000262144.6:c.2642A>G p.Glu881Gly p.E881G ENST00000262144 NM_030581.3 881 gAa/gGa 0 Missense_Mutation T 62 WDR59 SNP 16 T C 73477099 73477099 Broad RILP 83547 broad.mit.edu GRCh37 17 1551681 1551682 + missense_variant Missense_Mutation DNP CT CT TC novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000301336.6:c.783_784delinsGA p.Val262Met p.V262M ENST00000301336 NM_031430.2 261 aaAGtg/aaGAtg 0 Missense_Mutation CT 20 RILP DNP 17 CT TC 1498432 1498431 Broad RILP 83547 broad.mit.edu GRCh37 17 1551688 1551688 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000301336.6:c.777A>G p.Lys259= p.K259= ENST00000301336 NM_031430.2 259 aaA/aaG 0 Silent T 56 RILP SNP 17 T C 1498438 1498438 Broad KSR1 8844 broad.mit.edu GRCh37 17 25935037 25935037 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000398988.3:c.1746+1G>T p.X582_splice ENST00000398988 NM_014238.1 0 Splice_Site_SNP G 44 KSR1 SNP 17 G T 22959164 22959164 Broad GIT1 28964 broad.mit.edu GRCh37 17 27904254 27904254 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000394869.3:c.1020G>A p.Lys340= p.K340= ENST00000394869 NM_001085454.1 340 aaG/aaA 0 Silent C 28 GIT1 SNP 17 C T 24928380 24928380 Broad SSH2 85464 broad.mit.edu GRCh37 17 27999047 27999047 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000269033.3:c.634C>G p.His212Asp p.H212D ENST00000269033 NM_033389.2 212 Cat/Gat 0 Missense_Mutation G 47 SSH2 SNP 17 G C 25023173 25023173 Broad PTRF 284119 broad.mit.edu GRCh37 17 40574886 40574886 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000357037.5:c.230A>T p.Glu77Val p.E77V ENST00000357037 NM_012232.5 77 gAg/gTg 0 Missense_Mutation T 54 PTRF SNP 17 T A 37828412 37828412 Broad EVPL 2125 broad.mit.edu GRCh37 17 74005992 74005992 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000301607.3:c.3294G>T p.Gln1098His p.Q1098H ENST00000301607 NM_001988.2 1098 caG/caT 0 Missense_Mutation C 32 EVPL SNP 17 C A 71517587 71517587 Broad QRICH2 84074 broad.mit.edu GRCh37 17 74289720 74289720 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000262765.5:c.590A>G p.Gln197Arg p.Q197R ENST00000262765 NM_032134.1 197 cAa/cGa 0 Missense_Mutation T 63 QRICH2 SNP 17 T C 71801315 71801315 Broad UBE2O 63893 broad.mit.edu GRCh37 17 74387129 74387129 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000319380.7:c.3774C>G p.Leu1258= p.L1258= ENST00000319380 NM_022066.3 1258 ctC/ctG 0 Silent G 33 UBE2O SNP 17 G C 71898724 71898724 Broad DNAH17 8632 broad.mit.edu GRCh37 17 76457761 76457761 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000389840.5:c.9162T>G p.Ile3054Met p.I3054M ENST00000389840 3054 atT/atG 0 Missense_Mutation A 9 DNAH17 SNP 17 A C 73969356 73969356 Broad DNAH17 8632 broad.mit.edu GRCh37 17 76457763 76457764 + missense_variant Missense_Mutation DNP TC TC AG novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000389840.5:c.9159_9160delinsCT p.Ile3054Phe p.I3054F ENST00000389840 3053 gcGAtt/gcCTtt 0 Missense_Mutation TC 50 DNAH17 DNP 17 TC AG 73969359 73969358 Broad TBC1D16 125058 broad.mit.edu GRCh37 17 77923572 77923573 + missense_variant Missense_Mutation DNP CT CT GC novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000310924.2:c.1349_1350delinsGC p.Glu450Gly p.E450G ENST00000310924 NM_019020.3 450 gAG/gGC 0 Missense_Mutation CT 28 TBC1D16 DNP 17 CT GC 75538168 75538167 Broad RNF213 57674 broad.mit.edu GRCh37 17 78337469 78337469 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000582970.1:c.11629C>A p.Pro3877Thr p.P3877T ENST00000582970 NM_001256071.1 3877 Ccc/Acc 0 Missense_Mutation C 26 RNF213 SNP 17 C A 75952064 75952064 Broad TRAPPC8 22878 broad.mit.edu GRCh37 18 29493393 29493393 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000283351.4:c.710C>T p.Ser237Leu p.S237L ENST00000283351 NM_014939.3 237 tCa/tTa 0 Missense_Mutation G 45 TRAPPC8 SNP 18 G A 27747391 27747391 Broad KLHL14 57565 broad.mit.edu GRCh37 18 30257208 30257208 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000359358.4:c.1674G>T p.Glu558Asp p.E558D ENST00000359358 NM_020805.1 558 gaG/gaT 0 Missense_Mutation C 24 KLHL14 SNP 18 C A 28511206 28511206 Broad SERPINB4 6318 broad.mit.edu GRCh37 18 61309035 61309035 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000341074.5:c.310G>A p.Ala104Thr p.A104T ENST00000341074 NM_002974.2 104 Gcc/Acc 0 Missense_Mutation C 27 SERPINB4 SNP 18 C T 59460015 59460015 Broad CTDP1 9150 broad.mit.edu GRCh37 18 77457981 77457982 + missense_variant Missense_Mutation DNP CG CG GT novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000299543.7:c.614_615delinsGT p.Ser205Cys p.S205C ENST00000299543 NM_001202504.1 205 tCG/tGT 0 Missense_Mutation CG 31 CTDP1 DNP 18 CG GT 75558970 75558969 Broad ADNP2 22850 broad.mit.edu GRCh37 18 77895160 77895160 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000262198.4:c.1864G>T p.Val622Phe p.V622F ENST00000262198 NM_014913.3 622 Gtc/Ttc 0 Missense_Mutation G 48 ADNP2 SNP 18 G T 75996151 75996151 Broad ATP8B3 148229 broad.mit.edu GRCh37 19 1789034 1789035 + missense_variant Missense_Mutation DNP GA GA CC novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000310127.6:c.2930_2931delinsGG p.Phe977Trp p.F977W ENST00000310127 NM_138813.3 977 tTC/tGG 0 Missense_Mutation GA 41 ATP8B3 DNP 19 GA CC 1740035 1740034 Broad RANBP3 8498 broad.mit.edu GRCh37 19 5933475 5933475 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000340578.6:c.422G>T p.Gly141Val p.G141V ENST00000340578 NM_007322.2 141 gGc/gTc 0 Missense_Mutation C 26 RANBP3 SNP 19 C A 5884475 5884475 Broad C19orf57 79173 broad.mit.edu GRCh37 19 14001229 14001229 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000346736.2:c.440T>C p.Leu147Pro p.L147P ENST00000346736 NM_024323.3 147 cTa/cCa 0 Missense_Mutation A 15 C19orf57 SNP 19 A G 13862229 13862229 Broad UPF1 5976 broad.mit.edu GRCh37 19 18974390 18974390 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000262803.5:c.2744A>T p.Lys915Met p.K915M ENST00000262803 NM_002911.3 915 aAg/aTg 0 Missense_Mutation A 3 UPF1 SNP 19 A T 18835390 18835390 Broad UPF1 5976 broad.mit.edu GRCh37 19 18974392 18974392 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000262803.5:c.2746C>T p.Pro916Ser p.P916S ENST00000262803 NM_002911.3 916 Cca/Tca 0 Missense_Mutation C 26 UPF1 SNP 19 C T 18835392 18835392 Broad SLC7A10 56301 broad.mit.edu GRCh37 19 33701443 33701443 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000253188.4:c.1193G>A p.Cys398Tyr p.C398Y ENST00000253188 NM_019849.2 398 tGc/tAc 0 Missense_Mutation C 25 SLC7A10 SNP 19 C T 38393283 38393283 Broad ZNF546 339327 broad.mit.edu GRCh37 19 40520961 40520961 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000347077.4:c.1784A>T p.Asn595Ile p.N595I ENST00000347077 NM_178544.3 595 aAt/aTt 0 Missense_Mutation A 4 ZNF546 SNP 19 A T 45212801 45212801 Broad CYP2A6 1548 broad.mit.edu GRCh37 19 41350620 41350620 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000301141.5:c.1219A>C p.Asn407His p.N407H ENST00000301141 NM_000762.5 407 Aac/Cac 0 Missense_Mutation T 63 CYP2A6 SNP 19 T G 46042460 46042460 Broad SIGLEC12 89858 broad.mit.edu GRCh37 19 52002862 52002862 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000291707.3:c.917C>T p.Thr306Met p.T306M ENST00000291707 NM_053003.2 306 aCg/aTg 0 Missense_Mutation G 40 SIGLEC12 SNP 19 G A 56694674 56694674 Broad ZNF324B 388569 broad.mit.edu GRCh37 19 58967129 58967130 + missense_variant Missense_Mutation DNP TC TC GT novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000336614.4:c.818_819delinsGT p.Leu273Arg p.L273R ENST00000336614 NM_207395.2 273 cTC/cGT 0 Missense_Mutation TC 54 ZNF324B DNP 19 TC GT 63658942 63658941 Broad DHX57 90957 broad.mit.edu GRCh37 2 39065007 39065007 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000295373.6:c.2508G>C p.Glu836Asp p.E836D ENST00000295373 NM_198963.1 836 gaG/gaC 0 Missense_Mutation C 20 DHX57 SNP 2 C G 38918511 38918511 Broad THADA 63892 broad.mit.edu GRCh37 2 43520110 43520110 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000405006.4:c.4681C>T p.Leu1561= p.L1561= ENST00000405006 NM_001083953.1 1561 Ctg/Ttg 0 Silent G 36 THADA SNP 2 G A 43373614 43373614 Broad SOCS5 9655 broad.mit.edu GRCh37 2 46986254 46986254 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000306503.5:c.585C>T p.Ser195= p.S195= ENST00000306503 NM_014011.4 195 agC/agT 0 Silent C 25 SOCS5 SNP 2 C T 46839758 46839758 Broad FAM161A 84140 broad.mit.edu GRCh37 2 62081132 62081132 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000404929.1:c.45C>T p.Leu15= p.L15= ENST00000404929 NM_001201543.1 15 ctC/ctT 0 Silent G 41 FAM161A SNP 2 G A 61934636 61934636 Broad CYP26B1 56603 broad.mit.edu GRCh37 2 72359702 72359703 + missense_variant Missense_Mutation DNP TC TC AA novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000001146.2:c.1192_1193delinsTT p.Asp398Phe p.D398F ENST00000001146 NM_019885.3 398 GAc/TTc 0 Missense_Mutation TC 58 CYP26B1 DNP 2 TC AA 72213211 72213210 Broad WBP1 23559 broad.mit.edu GRCh37 2 74687689 74687690 + missense_variant Missense_Mutation DNP GT GT CC novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000233615.2:c.691_692delinsCC p.Val231Pro p.V231P ENST00000233615 NM_012477.3 231 GTg/CCg 0 Missense_Mutation GT 44 WBP1 DNP 2 GT CC 74541198 74541197 Broad FAM178B 51252 broad.mit.edu GRCh37 2 97543677 97543677 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000490605.2:c.1957A>G p.Thr653Ala p.T653A ENST00000490605 653 Acc/Gcc 0 Missense_Mutation T 57 FAM178B SNP 2 T C 96907404 96907404 Broad CNGA3 1261 broad.mit.edu GRCh37 2 99012779 99012779 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000393504.1:c.1146C>T p.Val382= p.V382= ENST00000393504 NM_001298.2 382 gtC/gtT 0 Silent C 31 CNGA3 SNP 2 C T 98379211 98379211 Broad NCKAP5 344148 broad.mit.edu GRCh37 2 133540467 133540467 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000409261.1:c.3917C>A p.Ala1306Asp p.A1306D ENST00000409261 NM_207363.2 1306 gCc/gAc 0 Missense_Mutation G 42 NCKAP5 SNP 2 G T 133256937 133256937 Broad WIPF1 7456 broad.mit.edu GRCh37 2 175436420 175436420 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000392547.2:c.1113C>A p.Asp371Glu p.D371E ENST00000392547 NM_003387.4 371 gaC/gaA 0 Missense_Mutation G 44 WIPF1 SNP 2 G T 175144666 175144666 Broad TTN 7273 broad.mit.edu GRCh37 2 179400239 179400239 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000589042.1:c.101103C>T p.Val33701= p.V33701= ENST00000589042 NM_001267550.1 33701 gtC/gtT 0 Silent G 33 TTN SNP 2 G A 179108485 179108485 Broad TTN 7273 broad.mit.edu GRCh37 2 179432535 179432535 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000589042.1:c.78324G>A p.Gln26108= p.Q26108= ENST00000589042 NM_001267550.1 26108 caG/caA 0 Silent C 20 TTN SNP 2 C T 179140781 179140781 Broad SGPP2 130367 broad.mit.edu GRCh37 2 223339308 223339308 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000321276.7:c.241G>A p.Val81Met p.V81M ENST00000321276 NM_152386.2 81 Gtg/Atg 0 Missense_Mutation G 40 SGPP2 SNP 2 G A 223047552 223047552 Broad KCNE4 23704 broad.mit.edu GRCh37 2 223917651 223917651 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000604125.1:c.103G>A p.Glu35Lys p.E35K ENST00000604125 35 Gag/Aag 0 Missense_Mutation G 37 KCNE4 SNP 2 G A 223625895 223625895 Broad DNTTIP1 116092 broad.mit.edu GRCh37 20 44424081 44424081 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000372622.3:c.371A>G p.Gln124Arg p.Q124R ENST00000372622 NM_052951.2 124 cAg/cGg 0 Missense_Mutation A 7 DNTTIP1 SNP 20 A G 43857488 43857488 Broad NKAIN4 128414 broad.mit.edu GRCh37 20 61881327 61881328 + missense_variant Missense_Mutation DNP AG AG GC novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000370316.3:c.151_152delinsGC p.Leu51Ala p.L51A ENST00000370316 NM_152864.3 51 CTc/GCc 0 Missense_Mutation AG 11 NKAIN4 DNP 20 AG GC 61351773 61351772 Broad IFNAR2 3455 broad.mit.edu GRCh37 21 34635017 34635017 + intron_variant Intron SNP A A T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000342136.4:c.841-81A>T *281* ENST00000342136 0 Missense_Mutation A 12 IFNAR2 SNP 21 A T 33556887 33556887 Broad PKNOX1 5316 broad.mit.edu GRCh37 21 44450198 44450198 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000291547.5:c.1298A>G p.Asp433Gly p.D433G ENST00000291547 NM_004571.3 433 gAc/gGc 0 Missense_Mutation A 10 PKNOX1 SNP 21 A G 43323267 43323267 Broad MTFP1 51537 broad.mit.edu GRCh37 22 30824620 30824621 + 3_prime_UTR_variant 3'UTR DNP GA GA AG novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000266263.5:c.*99_*100delinsAG *33* ENST00000266263 NM_016498.4 0 Missense_Mutation GA 33 MTP18 DNP 22 GA AG 29154621 29154620 Broad TOM1 10043 broad.mit.edu GRCh37 22 35743161 35743161 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000411850.1:c.1441A>T p.Lys481Ter p.K481* ENST00000411850 NM_001135732.1 481 Aag/Tag 0 Nonsense_Mutation A 9 TOM1 SNP 22 A T 34073161 34073161 Broad TBC1D22A 25771 broad.mit.edu GRCh37 22 47507495 47507496 + missense_variant Missense_Mutation DNP TT TT GC novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000337137.4:c.1421_1422delinsGC p.Phe474Cys p.F474C ENST00000337137 NM_014346.2 474 tTT/tGC 0 Missense_Mutation TT 64 TBC1D22A DNP 22 TT GC 45886160 45886159 Broad BHLHE40 8553 broad.mit.edu GRCh37 3 5025042 5025042 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000256495.3:c.904A>C p.Thr302Pro p.T302P ENST00000256495 NM_003670.2 302 Act/Cct 0 Missense_Mutation A 6 BHLHE40 SNP 3 A C 5000042 5000042 Broad PFKFB4 5210 broad.mit.edu GRCh37 3 48576054 48576054 + splice_acceptor_variant Splice_Site SNP T T A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000232375.3:c.511-2A>T p.X171_splice ENST00000232375 NM_004567.2 0 Splice_Site_SNP T 55 PFKFB4 SNP 3 T A 48551058 48551058 Broad MAPKAPK3 7867 broad.mit.edu GRCh37 3 50655112 50655112 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000446044.1:c.116T>G p.Val39Gly p.V39G ENST00000446044 NM_001243926.1 39 gTg/gGg 0 Missense_Mutation T 59 MAPKAPK3 SNP 3 T G 50630116 50630116 Broad SUCLG2 8801 broad.mit.edu GRCh37 3 67579524 67579524 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000493112.1:c.313C>A p.His105Asn p.H105N ENST00000493112 NM_001177599.1 105 Cat/Aat 0 Missense_Mutation G 45 SUCLG2 SNP 3 G T 67662214 67662214 Broad EPHA6 285220 broad.mit.edu GRCh37 3 97311539 97311539 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000389672.5:c.2470C>T p.Pro824Ser p.P824S ENST00000389672 NM_001080448.2 824 Cca/Tca 0 Missense_Mutation C 30 EPHA6 SNP 3 C T 98794229 98794229 Broad KIAA2018 205717 broad.mit.edu GRCh37 3 113376755 113376755 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000316407.4:c.3774G>A p.Ala1258= p.A1258= ENST00000316407 NM_001009899.2 1258 gcG/gcA 0 Silent C 23 KIAA2018 SNP 3 C T 114859445 114859445 Broad GP5 2814 broad.mit.edu GRCh37 3 194118094 194118095 + missense_variant Missense_Mutation DNP GG GG CA novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000401815.1:c.917_918delinsTG p.Pro306Leu p.P306L ENST00000401815 306 cCC/cTG 0 Missense_Mutation GG 39 GP5 DNP 3 GG CA 195599384 195599383 Broad MUC4 4585 broad.mit.edu GRCh37 3 195475824 195475824 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000463781.3:c.15983A>C p.Tyr5328Ser p.Y5328S ENST00000463781 NM_018406.6 5328 tAc/tCc 0 Missense_Mutation T 57 MUC4 SNP 3 T G 196961495 196961495 Broad WDR53 348793 broad.mit.edu GRCh37 3 196287989 196287989 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000332629.5:c.358A>G p.Ile120Val p.I120V ENST00000332629 NM_182627.1 120 Atc/Gtc 0 Missense_Mutation T 52 WDR53 SNP 3 T C 197772386 197772386 Broad CHRNA9 55584 broad.mit.edu GRCh37 4 40355996 40355996 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000310169.2:c.899G>A p.Gly300Asp p.G300D ENST00000310169 NM_017581.3 300 gGt/gAt 0 Missense_Mutation G 44 CHRNA9 SNP 4 G A 40050753 40050753 Broad RASL11B 65997 broad.mit.edu GRCh37 4 53731857 53731857 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000248706.3:c.632C>T p.Pro211Leu p.P211L ENST00000248706 NM_023940.2 211 cCc/cTc 0 Missense_Mutation C 22 RASL11B SNP 4 C T 53426614 53426614 Broad TRAM1L1 133022 broad.mit.edu GRCh37 4 118005903 118005903 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000310754.4:c.647A>C p.Asn216Thr p.N216T ENST00000310754 NM_152402.2 216 aAt/aCt 0 Missense_Mutation T 52 TRAM1L1 SNP 4 T G 118225351 118225351 Broad DCTD 1635 broad.mit.edu GRCh37 4 183815687 183815687 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000357067.3:c.349G>C p.Ala117Pro p.A117P ENST00000357067 NM_001012732.1 117 Gcc/Ccc 0 Missense_Mutation C 25 DCTD SNP 4 C G 184052681 184052681 Broad FRG2 448831 broad.mit.edu GRCh37 4 190946952 190946952 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000378763.1:c.601C>A p.Pro201Thr p.P201T ENST00000378763 NM_001005217.1 201 Cca/Aca 0 Missense_Mutation G 41 FRG2 SNP 4 G T 191183946 191183946 Broad SDHA 6389 broad.mit.edu GRCh37 5 226126 226126 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000264932.6:c.585G>T p.Arg195= p.R195= ENST00000264932 NM_004168.2 195 cgG/cgT 0 Silent G 41 SDHA SNP 5 G T 279126 279126 Broad ZFR 51663 broad.mit.edu GRCh37 5 32415192 32415192 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000265069.8:c.666C>T p.Thr222= p.T222= ENST00000265069 NM_016107.3 222 acC/acT 0 Silent G 47 ZFR SNP 5 G A 32450949 32450949 Broad DDX46 9879 broad.mit.edu GRCh37 5 134121240 134121240 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000354283.4:c.1428G>A p.Val476= p.V476= ENST00000354283 476 gtG/gtA 0 Silent G 47 DDX46 SNP 5 G A 134149139 134149139 Broad PCDHB9 56127 broad.mit.edu GRCh37 5 140567813 140567813 + non_coding_transcript_exon_variant RNA SNP T T G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000316105.4:n.921T>G *307* ENST00000316105 0 Silent T 63 PCDHB9 SNP 5 T G 140547997 140547997 Broad DPYSL3 1809 broad.mit.edu GRCh37 5 146780347 146780347 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000343218.5:c.1360C>G p.Gln454Glu p.Q454E ENST00000343218 NM_001197294.1 454 Cag/Gag 0 Missense_Mutation G 47 DPYSL3 SNP 5 G C 146760540 146760540 Broad STK10 6793 broad.mit.edu GRCh37 5 171533644 171533645 + missense_variant Missense_Mutation DNP CG CG AA novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000176763.5:c.767_768delinsTT p.Thr256Ile p.T256I ENST00000176763 NM_005990.3 256 aCG/aTT 0 Missense_Mutation CG 27 STK10 DNP 5 CG AA 171466250 171466249 Broad RREB1 6239 broad.mit.edu GRCh37 6 7182297 7182297 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000379938.2:c.153G>C p.Arg51= p.R51= ENST00000379938 NM_001003700.1 51 cgG/cgC 0 Silent G 41 RREB1 SNP 6 G C 7127296 7127296 Broad RIMS1 22999 broad.mit.edu GRCh37 6 72892194 72892194 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000521978.1:c.1020G>T p.Ala340= p.A340= ENST00000521978 NM_014989.5 340 gcG/gcT 0 Silent G 39 RIMS1 SNP 6 G T 72948915 72948915 Broad TPBG 7162 broad.mit.edu GRCh37 6 83075084 83075084 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000369750.3:c.406G>T p.Gly136Cys p.G136C ENST00000369750 136 Ggc/Tgc 0 Missense_Mutation G 43 TPBG SNP 6 G T 83131803 83131803 Broad SYNE1 23345 broad.mit.edu GRCh37 6 152560819 152560819 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000367255.5:c.19916C>T p.Ser6639Phe p.S6639F ENST00000367255 NM_182961.3 6639 tCt/tTt 0 Missense_Mutation G 33 SYNE1 SNP 6 G A 152602512 152602512 Broad SYNE1 23345 broad.mit.edu GRCh37 6 152658125 152658126 + missense_variant Missense_Mutation DNP TC TC AT novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000367255.5:c.12378_12379delinsAT p.Asn4127Tyr p.N4127Y ENST00000367255 NM_182961.3 4126 caGAac/caATac 0 Missense_Mutation TC 62 SYNE1 DNP 6 TC AT 152699819 152699818 Broad ARL4A 10124 broad.mit.edu GRCh37 7 12728205 12728205 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000396663.1:c.326A>T p.Glu109Val p.E109V ENST00000396663 NM_005738.4 109 gAa/gTa 0 Missense_Mutation A 9 ARL4A SNP 7 A T 12694730 12694730 Broad GRB10 2887 broad.mit.edu GRCh37 7 50742237 50742237 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000398812.2:c.258C>G p.Ala86= p.A86= ENST00000398812 NM_005311.4 86 gcC/gcG 0 Silent G 43 GRB10 SNP 7 G C 50709731 50709731 Broad PCLO 27445 broad.mit.edu GRCh37 7 82583854 82583854 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000333891.9:c.6415G>T p.Glu2139Ter p.E2139* ENST00000333891 NM_033026.5 2139 Gaa/Taa 0 Nonsense_Mutation C 32 PCLO SNP 7 C A 82421790 82421790 Broad ACN9 57001 broad.mit.edu GRCh37 7 96747118 96747118 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000432641.2:c.83A>G p.Lys28Arg p.K28R ENST00000432641 NM_020186.2 28 aAa/aGa 0 Missense_Mutation A 1 ACN9 SNP 7 A G 96585054 96585054 Broad GAL3ST4 79690 broad.mit.edu GRCh37 7 99758403 99758403 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000360039.4:c.609C>G p.Asp203Glu p.D203E ENST00000360039 NM_024637.4 203 gaC/gaG 0 Missense_Mutation G 44 GAL3ST4 SNP 7 G C 99596339 99596339 Broad CUX1 1523 broad.mit.edu GRCh37 7 101882758 101882758 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000360264.3:c.3814C>A p.Arg1272= p.R1272= ENST00000360264 NM_001202543.1 1272 Cga/Aga 0 Silent C 19 CUX1 SNP 7 C A 101669478 101669478 Broad NUP205 23165 broad.mit.edu GRCh37 7 135301468 135301468 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000285968.6:c.3526A>T p.Thr1176Ser p.T1176S ENST00000285968 NM_015135.2 1176 Aca/Tca 0 Missense_Mutation A 14 NUP205 SNP 7 A T 134952008 134952008 Broad RP1L1 94137 broad.mit.edu GRCh37 8 10469533 10469533 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000382483.3:c.2075G>C p.Arg692Pro p.R692P ENST00000382483 NM_178857.5 692 cGg/cCg 0 Missense_Mutation C 23 RP1L1 SNP 8 C G 10506943 10506943 Broad SOX7 83595 broad.mit.edu GRCh37 8 10583964 10583964 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000304501.1:c.451G>C p.Gly151Arg p.G151R ENST00000304501 NM_031439.3 151 Ggc/Cgc 0 Missense_Mutation C 23 SOX7 SNP 8 C G 10621374 10621374 Broad GLIS3 169792 broad.mit.edu GRCh37 9 4117947 4117947 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000381971.3:c.1531T>G p.Tyr511Asp p.Y511D ENST00000381971 NM_001042413.1 511 Tac/Gac 0 Missense_Mutation A 14 GLIS3 SNP 9 A C 4107947 4107947 Broad FANCC 2176 broad.mit.edu GRCh37 9 97869533 97869533 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000289081.3:c.1348C>A p.Leu450Met p.L450M ENST00000289081 NM_000136.2 450 Ctg/Atg 0 Missense_Mutation G 34 FANCC SNP 9 G T 96909354 96909354 Broad AKNA 80709 broad.mit.edu GRCh37 9 117139344 117139344 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000307564.4:c.743G>A p.Gly248Asp p.G248D ENST00000307564 NM_030767.4 248 gGc/gAc 0 Missense_Mutation C 26 AKNA SNP 9 C T 116179165 116179165 Broad CDK5RAP2 55755 broad.mit.edu GRCh37 9 123199658 123199658 + synonymous_variant Silent SNP C C G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000349780.4:c.3870G>C p.Val1290= p.V1290= ENST00000349780 NM_018249.5 1290 gtG/gtC 0 Silent C 21 CDK5RAP2 SNP 9 C G 122239479 122239479 Broad TRAF1 7185 broad.mit.edu GRCh37 9 123688240 123688241 + missense_variant Missense_Mutation DNP AC AC GT novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000373887.3:c.113_114inv p.Cys38Tyr p.C38Y ENST00000373887 NM_005658.4 38 tGT/tAC 0 Missense_Mutation AC 6 TRAF1 DNP 9 AC GT 122728062 122728061 Broad TTC16 158248 broad.mit.edu GRCh37 9 130489643 130489643 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000373289.3:c.1663C>G p.Leu555Val p.L555V ENST00000373289 NM_144965.1 555 Ctg/Gtg 0 Missense_Mutation C 28 TTC16 SNP 9 C G 129529464 129529464 Broad SH3GLB2 56904 broad.mit.edu GRCh37 9 131777127 131777127 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000372564.3:c.391G>T p.Asp131Tyr p.D131Y ENST00000372564 NM_020145.2 131 Gat/Tat 0 Missense_Mutation C 30 SH3GLB2 SNP 9 C A 130816948 130816948 Broad LAMC3 10319 broad.mit.edu GRCh37 9 133936591 133936592 + missense_variant Missense_Mutation DNP CT CT GA novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000361069.4:c.2328_2329delinsGA p.His776_Cys777delinsGlnSer p.H776_C777delinsQS ENST00000361069 NM_006059.3 776 caCTgc/caGAgc 0 Missense_Mutation CT 20 LAMC3 DNP 9 CT GA 132926413 132926412 Broad DBH 1621 broad.mit.edu GRCh37 9 136501728 136501728 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000393056.2:c.235C>T p.Arg79Trp p.R79W ENST00000393056 NM_000787.3 79 Cgg/Tgg 0 Missense_Mutation C 27 DBH SNP 9 C T 135491549 135491549 Broad EIF1AX 1964 broad.mit.edu GRCh37 X 20156742 20156742 + splice_acceptor_variant Splice_Site SNP T T G novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000379607.5:c.17-2A>C p.X6_splice ENST00000379607 NM_001412.3 0 Splice_Site_SNP T 55 EIF1AX SNP 23 T G 20066663 20066663 Broad ACRC 93953 broad.mit.edu GRCh37 X 70823914 70823914 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000373695.1:c.787G>C p.Glu263Gln p.E263Q ENST00000373695 263 Gaa/Caa 0 Missense_Mutation G 41 ACRC SNP 23 G C 70740639 70740639 Broad FAM50A 9130 broad.mit.edu GRCh37 X 153678059 153678059 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000393600.3:c.756C>T p.Ile252= p.I252= ENST00000393600 NM_004699.3 252 atC/atT 0 Silent C 29 FAM50A SNP 23 C T 153331253 153331253 Broad GAB3 139716 broad.mit.edu GRCh37 X 153940577 153940577 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown x x x ENST00000424127.2:c.996C>A p.Ser332Arg p.S332R ENST00000424127 332 agC/agA 0 Missense_Mutation G 46 GAB3 SNP 23 G T 153593771 153593771 Broad CHD5 26038 broad.mit.edu GRCh37 1 6186740 6186741 + frameshift_variant Frame_Shift_Ins INS - - AT novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000262450.3:c.3969_3970insAT p.Leu1324IlefsTer78 p.L1324Ifs*78 ENST00000262450 NM_015557.2 1323 -/AT 0 Frame_Shift_Ins - 34 CHD5 INS 1 AT - 6109328 6109327 Broad H6PD 9563 broad.mit.edu GRCh37 1 9324782 9324785 + frameshift_variant Frame_Shift_Del DEL GTCC GTCC - novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000377403.2:c.2230_2233del p.Val744TrpfsTer6 p.V744Wfs*6 ENST00000377403 NM_004285.3 744 GTCCtg/tg 0 Frame_Shift_Del GTCC 36 H6PD DEL 1 - GTCC 9247372 9247369 Broad CNKSR1 10256 broad.mit.edu GRCh37 1 26515913 26515917 + frameshift_variant Frame_Shift_Del DEL CAGCT CAGCT - novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000361530.6:c.2017_2021del p.Ser673ProfsTer6 p.S673Pfs*6 ENST00000361530 672 ggCAGCTcc/ggcc 0 Frame_Shift_Del CAGCT 25 CNKSR1 DEL 1 - CAGCT 26388504 26388500 Broad ZMYM6 9204 broad.mit.edu GRCh37 1 35452848 35452850 + inframe_deletion In_Frame_Del DEL AAA AAA - novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000357182.4:c.3833_3835del p.Phe1278del p.F1278del ENST00000357182 NM_007167.3 1278 tTTTca/tca 0 In_Frame_Del AAA 9 ZMYM6 DEL 1 - AAA 35225437 35225435 Broad KIAA1462 57608 broad.mit.edu GRCh37 10 30318203 30318209 + frameshift_variant Frame_Shift_Del DEL GCCTCCC GCCTCCC - novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000375377.1:c.868_874del p.Gly290ProfsTer73 p.G290Pfs*73 ENST00000375377 NM_020848.2 290 GGGAGGCcc/cc 0 Frame_Shift_Del GCCTCCC 42 KIAA1462 DEL 10 - GCCTCCC 30358215 30358209 Broad DOCK1 1793 broad.mit.edu GRCh37 10 128925903 128925938 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL GTTGGTGTTCATTGGTGTGTCCTTCCCCAGGGGCCA GTTGGTGTTCATTGGTGTGTCCTTCCCCAGGGGCCA - novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000280333.6:c.2689-30_2694del p.X897_splice ENST00000280333 NM_001380.3 0 Splice_Site_Del GTTGGTGTTCATTGGTGTGTCCTTCCCCAGGGGCCA 48 DOCK1 DEL 10 - GTTGGTGTTCATTGGTGTGTCCTTCCCCAGGGGCCA 128815928 128815893 Broad ACTN3 89 broad.mit.edu GRCh37 11 66326795 66326798 + intron_variant,non_coding_transcript_variant Intron DEL GAGC GAGC - novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000504911.1:n.221-102_221-99del *74* ENST00000504911 0 Frame_Shift_Del GAGC 33 ACTN3 DEL 11 - GAGC 66083374 66083371 Broad KBTBD7 84078 broad.mit.edu GRCh37 13 41768239 41768276 + frameshift_variant Frame_Shift_Del DEL TGTGCCAGCAGGGCTGCAGAATGGGCCGTGTCCTTTAA TGTGCCAGCAGGGCTGCAGAATGGGCCGTGTCCTTTAA - novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000379483.3:c.118_155del p.Leu40AlafsTer12 p.L40Afs*12 ENST00000379483 NM_032138.4 40 TTAAAGGACACGGCCCATTCTGCAGCCCTGCTGGCACAg/g 0 Frame_Shift_Del TGTGCCAGCAGGGCTGCAGAATGGGCCGTGTCCTTTAA 55 KBTBD7 DEL 13 - TGTGCCAGCAGGGCTGCAGAATGGGCCGTGTCCTTTAA 40666276 40666239 Broad FURIN 5045 broad.mit.edu GRCh37 15 91424873 91424898 + frameshift_variant Frame_Shift_Del DEL TGGCCGGCCTCAGCTGCGCCTTCATC TGGCCGGCCTCAGCTGCGCCTTCATC - novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000268171.3:c.2150_2175del p.Val717GlyfsTer18 p.V717Gfs*18 ENST00000268171 NM_002569.2 717 gTGGCCGGCCTCAGCTGCGCCTTCATC/g 0 Frame_Shift_Del TGGCCGGCCTCAGCTGCGCCTTCATC 59 FURIN DEL 15 - TGGCCGGCCTCAGCTGCGCCTTCATC 89225902 89225877 Broad UBE2O 63893 broad.mit.edu GRCh37 17 74387112 74387118 + frameshift_variant Frame_Shift_Del DEL CCCTTGG CCCTTGG - novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000319380.7:c.3785_3791del p.Ser1262PhefsTer10 p.S1262Ffs*10 ENST00000319380 NM_022066.3 1262 tCCAAGGGt/tt 0 Frame_Shift_Del CCCTTGG 18 UBE2O DEL 17 - CCCTTGG 71898713 71898707 Broad MYO9B 4650 broad.mit.edu GRCh37 19 17305612 17305617 + inframe_deletion In_Frame_Del DEL ACTCTC ACTCTC - novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000595618.1:c.3376_3381del p.Thr1126_Leu1127del p.T1126_L1127del ENST00000595618 NM_001130065.1 1126 ACTCTC/- 0 In_Frame_Del ACTCTC 10 MYO9B DEL 19 - ACTCTC 17166617 17166612 Broad CBFA2T2 9139 broad.mit.edu GRCh37 20 32162069 32162099 + splice_donor_variant,intron_variant Splice_Site DEL TATGTGTGAAACATTCATTTCTAATAGAGGA TATGTGTGAAACATTCATTTCTAATAGAGGA - novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000346541.3:c.61+2_61+32del p.X21_splice ENST00000346541 NM_005093.3 0 Splice_Site_Del TATGTGTGAAACATTCATTTCTAATAGAGGA 57 CBFA2T2 DEL 20 - TATGTGTGAAACATTCATTTCTAATAGAGGA 31625760 31625730 Broad EPM2AIP1 9852 broad.mit.edu GRCh37 3 37033079 37033080 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000322716.5:c.1489dup p.Glu497GlyfsTer19 p.E497Gfs*19 ENST00000322716 NM_014805.3 497 gaa/gGaa 0 Frame_Shift_Ins - 62 EPM2AIP1 INS 3 C - 37008084 37008083 Broad PDZRN3 23024 broad.mit.edu GRCh37 3 73433934 73433950 + frameshift_variant Frame_Shift_Del DEL CGGTGGCGTCGTCGCCA CGGTGGCGTCGTCGCCA - novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000263666.4:c.1767_1783del p.Gly590IlefsTer73 p.G590Ifs*73 ENST00000263666 NM_015009.1 589 aaTGGCGACGACGCCACCGca/aaca 0 Frame_Shift_Del CGGTGGCGTCGTCGCCA 27 PDZRN3 DEL 3 - CGGTGGCGTCGTCGCCA 73516640 73516624 Broad TACC3 10460 broad.mit.edu GRCh37 4 1742665 1742684 + frameshift_variant Frame_Shift_Del DEL CTTCAAGCGTTTTGAGAAAC CTTCAAGCGTTTTGAGAAAC - novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000313288.4:c.2175_2194del p.Phe726GlufsTer87 p.F726Efs*87 ENST00000313288 NM_006342.2 725 ctCTTCAAGCGTTTTGAGAAACag/ctag 0 Frame_Shift_Del CTTCAAGCGTTTTGAGAAAC 32 TACC3 DEL 4 - CTTCAAGCGTTTTGAGAAAC 1712482 1712463 Broad UNC5C 8633 broad.mit.edu GRCh37 4 96106271 96106272 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000453304.1:c.2212dup p.Thr738AsnfsTer23 p.T738Nfs*23 ENST00000453304 NM_003728.3 738 acc/aAcc 0 Frame_Shift_Ins - 44 UNC5C INS 4 T - 96325295 96325294 Broad AGFG2 3268 broad.mit.edu GRCh37 7 100161491 100161515 + frameshift_variant Frame_Shift_Del DEL CTTCCCCCAGGCAGTGCCACCCACT CTTCCCCCAGGCAGTGCCACCCACT - novel Unknown TCGA-61-2095-01 TCGA-61-2095-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000300176.4:c.1206_1230del p.Phe403GlyfsTer30 p.F403Gfs*30 ENST00000300176 NM_006076.4 402 ggCTTCCCCCAGGCAGTGCCACCCACT/gg 0 Frame_Shift_Del CTTCCCCCAGGCAGTGCCACCCACT 28 AGFG2 DEL 7 - CTTCCCCCAGGCAGTGCCACCCACT 99999451 99999427 Broad VPS13D 55187 broad.mit.edu GRCh37 1 12557552 12557552 + splice_acceptor_variant Splice_Site SNP A A G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000358136.3:c.12663-2A>G p.X4221_splice ENST00000358136 NM_015378.2 0 Splice_Site_SNP A 15 VPS13D SNP 1 A G 12480139 12480139 Broad ACTL8 81569 broad.mit.edu GRCh37 1 18152313 18152313 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000375406.1:c.400C>T p.Gln134Ter p.Q134* ENST00000375406 NM_030812.2 134 Cag/Tag 0 Nonsense_Mutation C 25 ACTL8 SNP 1 C T 18024900 18024900 Broad ZMYM6 9204 broad.mit.edu GRCh37 1 35480424 35480424 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000357182.4:c.669A>G p.Lys223= p.K223= ENST00000357182 NM_007167.3 223 aaA/aaG 0 Silent T 52 ZMYM6 SNP 1 T C 35253011 35253011 Broad LHX8 431707 broad.mit.edu GRCh37 1 75622678 75622678 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000294638.5:c.911C>A p.Pro304Gln p.P304Q ENST00000294638 NM_001001933.1 304 cCa/cAa 0 Missense_Mutation C 21 LHX8 SNP 1 C A 75395266 75395266 Broad HSD3B2 3284 broad.mit.edu GRCh37 1 119964949 119964949 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000543831.1:c.825T>C p.Phe275= p.F275= ENST00000543831 NM_001166120.1 275 ttT/ttC 0 Silent T 63 HSD3B2 SNP 1 T C 119766472 119766472 Broad LINGO4 339398 broad.mit.edu GRCh37 1 151773906 151773906 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000368820.3:c.1275A>G p.Ala425= p.A425= ENST00000368820 NM_001004432.2 425 gcA/gcG 0 Silent T 55 LINGO4 SNP 1 T C 150040530 150040530 Broad IVL 3713 broad.mit.edu GRCh37 1 152882801 152882801 + synonymous_variant Silent SNP G G A rs11205136 byCluster;by2Hit2Allele TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000368764.3:c.528G>A p.Pro176= p.P176= ENST00000368764 176 ccG/ccA 0 Silent G 39 IVL SNP 1 G A 151149425 151149425 Broad KIAA1614 57710 broad.mit.edu GRCh37 1 180887004 180887004 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000367588.4:c.1015G>T p.Val339Leu p.V339L ENST00000367588 NM_020950.1 339 Gtg/Ttg 0 Missense_Mutation G 48 KIAA1614 SNP 1 G T 179153627 179153627 Broad TRMT1L 81627 broad.mit.edu GRCh37 1 185113066 185113066 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000367506.5:c.751T>C p.Tyr251His p.Y251H ENST00000367506 NM_001202423.1 251 Tat/Cat 0 Missense_Mutation A 15 C1orf25 SNP 1 A G 183379689 183379689 Broad CUL2 8453 broad.mit.edu GRCh37 10 35349820 35349820 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000537177.1:c.356A>G p.Tyr119Cys p.Y119C ENST00000537177 NM_001198779.1 119 tAt/tGt 0 Missense_Mutation T 49 CUL2 SNP 10 T C 35389826 35389826 Broad FAM13C 220965 broad.mit.edu GRCh37 10 61083760 61083760 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000373868.2:c.431G>A p.Arg144Gln p.R144Q ENST00000373868 NM_198215.3 144 cGa/cAa 0 Missense_Mutation C 31 FAM13C SNP 10 C T 60753766 60753766 Broad MYOF 26509 broad.mit.edu GRCh37 10 95123805 95123805 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000359263.4:c.2781C>T p.His927= p.H927= ENST00000359263 NM_013451.3 927 caC/caT 0 Silent G 48 MYOF SNP 10 G A 95113795 95113795 Broad PLCE1 51196 broad.mit.edu GRCh37 10 95791574 95791574 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000371380.3:c.771C>T p.Asp257= p.D257= ENST00000371380 257 gaC/gaT 0 Silent C 17 PLCE1 SNP 10 C T 95781564 95781564 Broad CC2D2B 387707 broad.mit.edu GRCh37 10 97791678 97791678 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000410012.2:c.1119A>C p.Glu373Asp p.E373D ENST00000410012 NM_001159747.1 373 gaA/gaC 0 Missense_Mutation A 4 CC2D2B SNP 10 A C 97781668 97781668 Broad DNTT 1791 broad.mit.edu GRCh37 10 98064420 98064420 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000371174.2:c.166G>T p.Ala56Ser p.A56S ENST00000371174 56 Gcc/Tcc 0 Missense_Mutation G 42 DNTT SNP 10 G T 98054410 98054410 Broad UBQLN3 50613 broad.mit.edu GRCh37 11 5529473 5529473 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000311659.4:c.1316C>T p.Thr439Ile p.T439I ENST00000311659 NM_017481.2 439 aCa/aTa 0 Missense_Mutation G 48 UBQLN3 SNP 11 G A 5486049 5486049 Broad DCHS1 8642 broad.mit.edu GRCh37 11 6661233 6661233 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000299441.3:c.1612T>A p.Tyr538Asn p.Y538N ENST00000299441 NM_003737.2 538 Tat/Aat 0 Missense_Mutation A 15 DCHS1 SNP 11 A T 6617809 6617809 Broad OR5B2 390190 broad.mit.edu GRCh37 11 58190501 58190501 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000302581.2:c.234G>T p.Lys78Asn p.K78N ENST00000302581 NM_001005566.2 78 aaG/aaT 0 Missense_Mutation C 24 OR5B2 SNP 11 C A 57947077 57947077 Broad NRXN2 9379 broad.mit.edu GRCh37 11 64416248 64416248 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000265459.6:c.3241G>A p.Asp1081Asn p.D1081N ENST00000265459 NM_015080.3 1081 Gac/Aac 0 Missense_Mutation C 31 NRXN2 SNP 11 C T 64172824 64172824 Broad GSTP1 2950 broad.mit.edu GRCh37 11 67353898 67353898 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000398606.3:c.483G>T p.Leu161= p.L161= ENST00000398606 NM_000852.3 161 ctG/ctT 0 Silent G 45 GSTP1 SNP 11 G T 67110474 67110474 Broad KCNE3 10008 broad.mit.edu GRCh37 11 74168346 74168346 + missense_variant Missense_Mutation SNP C C A rs17221833 Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000310128.4:c.263G>T p.Arg88Leu p.R88L ENST00000310128 NM_005472.4 88 cGt/cTt 0 Missense_Mutation C 19 KCNE3 SNP 11 C A 73845994 73845994 Broad ALKBH8 91801 broad.mit.edu GRCh37 11 107403034 107403034 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000428149.2:c.870G>C p.Trp290Cys p.W290C ENST00000428149 NM_138775.2 290 tgG/tgC 0 Missense_Mutation C 30 ALKBH8 SNP 11 C G 106908244 106908244 Broad KIRREL3 84623 broad.mit.edu GRCh37 11 126306737 126306737 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000525144.2:c.1521C>T p.Ser507= p.S507= ENST00000525144 NM_032531.3 507 tcC/tcT 0 Silent G 39 KIRREL3 SNP 11 G A 125811947 125811947 Broad LRRC23 10233 broad.mit.edu GRCh37 12 7014876 7014876 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000007969.8:c.79G>C p.Glu27Gln p.E27Q ENST00000007969 NM_201650.2 27 Gag/Cag 0 Missense_Mutation G 33 LRRC23 SNP 12 G C 6885137 6885137 Broad GUCY2C 2984 broad.mit.edu GRCh37 12 14849316 14849316 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000261170.3:c.67A>G p.Ser23Gly p.S23G ENST00000261170 NM_004963.3 23 Agt/Ggt 0 Missense_Mutation T 53 GUCY2C SNP 12 T C 14740583 14740583 Broad SOX5 6660 broad.mit.edu GRCh37 12 24048941 24048941 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000451604.2:c.56C>G p.Pro19Arg p.P19R ENST00000451604 19 cCa/cGa 0 Missense_Mutation G 47 SOX5 SNP 12 G C 23940208 23940208 Broad OR6C1 390321 broad.mit.edu GRCh37 12 55714821 55714821 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000379668.2:c.438T>G p.Ser146= p.S146= ENST00000379668 NM_001005182.1 146 tcT/tcG 0 Silent T 56 OR6C1 SNP 12 T G 54001088 54001088 Broad ARL11 115761 broad.mit.edu GRCh37 13 50204629 50204629 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000282026.1:c.46G>T p.Val16Leu p.V16L ENST00000282026 NM_138450.5 16 Gtg/Ttg 0 Missense_Mutation G 44 ARL11 SNP 13 G T 49102630 49102630 Broad MYO16 23026 broad.mit.edu GRCh37 13 109704773 109704773 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000356711.2:c.2932A>G p.Thr978Ala p.T978A ENST00000356711 NM_015011.1 978 Aca/Gca 0 Missense_Mutation A 10 MYO16 SNP 13 A G 108502774 108502774 Broad PAPLN 89932 broad.mit.edu GRCh37 14 73731040 73731040 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000340738.5:c.2902A>G p.Ile968Val p.I968V ENST00000340738 NM_173462.3 968 Ata/Gta 0 Missense_Mutation A 8 PAPLN SNP 14 A G 72800793 72800793 Broad SERPINA9 327657 broad.mit.edu GRCh37 14 94929496 94929496 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000337425.5:c.1242G>T p.Met414Ile p.M414I ENST00000337425 NM_175739.3 414 atG/atT 0 Missense_Mutation C 29 SERPINA9 SNP 14 C A 93999249 93999249 Broad ATP10A 57194 broad.mit.edu GRCh37 15 25926004 25926004 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000356865.6:c.3631G>T p.Ala1211Ser p.A1211S ENST00000356865 NM_024490.3 1211 Gcg/Tcg 0 Missense_Mutation C 27 ATP10A SNP 15 C A 23477097 23477097 Broad MAP1A 4130 broad.mit.edu GRCh37 15 43814204 43814204 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000300231.5:c.533G>A p.Arg178His p.R178H ENST00000300231 178 cGt/cAt 0 Missense_Mutation G 40 MAP1A SNP 15 G A 41601496 41601496 Broad FAM63B 54629 broad.mit.edu GRCh37 15 59064310 59064310 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000559228.1:c.716G>A p.Gly239Glu p.G239E ENST00000559228 239 gGa/gAa 0 Missense_Mutation G 41 FAM63B SNP 15 G A 56851602 56851602 Broad UNC45A 55898 broad.mit.edu GRCh37 15 91485828 91485828 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000418476.2:c.849C>T p.Ile283= p.I283= ENST00000418476 NM_018671.3 283 atC/atT 0 Silent C 29 UNC45A SNP 15 C T 89286832 89286832 Broad TBL3 10607 broad.mit.edu GRCh37 16 2024216 2024216 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000568546.1:c.112C>T p.His38Tyr p.H38Y ENST00000568546 NM_006453.2 38 Cac/Tac 0 Missense_Mutation C 25 TBL3 SNP 16 C T 1964217 1964217 Broad MEFV 4210 broad.mit.edu GRCh37 16 3293271 3293271 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000219596.1:c.2216A>C p.His739Pro p.H739P ENST00000219596 NM_000243.2 739 cAc/cCc 0 Missense_Mutation T 59 MEFV SNP 16 T G 3233272 3233272 Broad NLRC3 197358 broad.mit.edu GRCh37 16 3598755 3598755 + splice_acceptor_variant Splice_Site SNP T T C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000448023.2:c.2742-2A>G p.X914_splice ENST00000448023 0 Splice_Site_SNP T 53 NLRC3 SNP 16 T C 3538756 3538756 Broad MYH11 4629 broad.mit.edu GRCh37 16 15876260 15876260 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000396324.3:c.729C>T p.Asn243= p.N243= ENST00000396324 NM_001040114.1 243 aaC/aaT 0 Silent G 40 MYH11 SNP 16 G A 15783761 15783761 Broad ABCC11 85320 broad.mit.edu GRCh37 16 48227793 48227793 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000394747.1:c.2505G>A p.Ser835= p.S835= ENST00000394747 NM_033151.3 835 tcG/tcA 0 Silent C 23 ABCC11 SNP 16 C T 46785294 46785294 Broad TRPV3 162514 broad.mit.edu GRCh37 17 3427603 3427603 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000301365.4:c.1632C>T p.Tyr544= p.Y544= ENST00000301365 544 taC/taT 0 Silent G 48 TRPV3 SNP 17 G A 3374353 3374353 Broad SLC2A4 6517 broad.mit.edu GRCh37 17 7187590 7187590 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000317370.8:c.619G>C p.Gly207Arg p.G207R ENST00000317370 NM_001042.2 207 Ggc/Cgc 0 Missense_Mutation G 43 SLC2A4 SNP 17 G C 7128314 7128314 Broad DNAH9 1770 broad.mit.edu GRCh37 17 11604512 11604512 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000262442.4:c.5099C>A p.Thr1700Asn p.T1700N ENST00000262442 NM_001372.3 1700 aCt/aAt 0 Missense_Mutation C 20 DNAH9 SNP 17 C A 11545237 11545237 Broad MYOCD 93649 broad.mit.edu GRCh37 17 12639616 12639616 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000425538.1:c.554C>T p.Ser185Leu p.S185L ENST00000425538 NM_001146312.1 185 tCa/tTa 0 Missense_Mutation C 29 MYOCD SNP 17 C T 12580341 12580341 Broad NLE1 54475 broad.mit.edu GRCh37 17 33460466 33460466 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000442241.4:c.1266G>T p.Trp422Cys p.W422C ENST00000442241 NM_001014445.1 422 tgG/tgT 0 Missense_Mutation C 18 NLE1 SNP 17 C A 30484579 30484579 Broad ARL4D 379 broad.mit.edu GRCh37 17 41477150 41477150 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000320033.4:c.50C>G p.Pro17Arg p.P17R ENST00000320033 NM_001661.3 17 cCc/cGc 0 Missense_Mutation C 22 ARL4D SNP 17 C G 38832676 38832676 Broad STXBP4 252983 broad.mit.edu GRCh37 17 53063586 53063586 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000376352.2:c.6T>G p.Asn2Lys p.N2K ENST00000376352 NM_178509.5 2 aaT/aaG 0 Missense_Mutation T 49 STXBP4 SNP 17 T G 50418585 50418585 Broad TUBD1 51174 broad.mit.edu GRCh37 17 57937777 57937777 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000325752.3:c.1268T>C p.Ile423Thr p.I423T ENST00000325752 NM_016261.3 423 aTt/aCt 0 Missense_Mutation A 4 TUBD1 SNP 17 A G 55292559 55292559 Broad TSPAN10 83882 broad.mit.edu GRCh37 17 79615016 79615016 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000328585.4:c.760G>T p.Val254Phe p.V254F ENST00000328585 NM_031945.3 254 Gtc/Ttc 0 Missense_Mutation G 48 TSPAN10 SNP 17 G T 77225421 77225421 Broad TGIF1 7050 broad.mit.edu GRCh37 18 3456474 3456474 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000330513.5:c.526G>T p.Val176Leu p.V176L ENST00000330513 NM_170695.3 176 Gtg/Ttg 0 Missense_Mutation G 48 TGIF1 SNP 18 G T 3446474 3446474 Broad DSC1 1823 broad.mit.edu GRCh37 18 28714042 28714042 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000257198.5:c.1928C>T p.Ser643Phe p.S643F ENST00000257198 NM_024421.2 643 tCt/tTt 0 Missense_Mutation G 33 DSC1 SNP 18 G A 26968040 26968040 Broad INSR 3643 broad.mit.edu GRCh37 19 7267483 7267483 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000302850.5:c.525C>A p.Asn175Lys p.N175K ENST00000302850 NM_000208.2 175 aaC/aaA 0 Missense_Mutation G 48 INSR SNP 19 G T 7218483 7218483 Broad RAB3D 9545 broad.mit.edu GRCh37 19 11446127 11446127 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000222120.3:c.468C>T p.Asp156= p.D156= ENST00000222120 NM_004283.3 156 gaC/gaT 0 Silent G 44 RAB3D SNP 19 G A 11307127 11307127 Broad SLC35E1 79939 broad.mit.edu GRCh37 19 16677361 16677361 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000595753.1:c.738C>T p.Phe246= p.F246= ENST00000595753 NM_024881.4 246 ttC/ttT 0 Silent G 41 SLC35E1 SNP 19 G A 16538361 16538361 Broad KPTN 11133 broad.mit.edu GRCh37 19 47984046 47984046 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000338134.3:c.570C>T p.Leu190= p.L190= ENST00000338134 NM_007059.2 190 ctC/ctT 0 Silent G 33 KPTN SNP 19 G A 52675858 52675858 Broad CLEC11A 6320 broad.mit.edu GRCh37 19 51228594 51228594 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000250340.4:c.842A>C p.His281Pro p.H281P ENST00000250340 NM_002975.2 281 cAt/cCt 0 Missense_Mutation A 8 CLEC11A SNP 19 A C 55920406 55920406 Broad NBAS 51594 broad.mit.edu GRCh37 2 15330512 15330512 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000281513.5:c.6448A>T p.Ile2150Phe p.I2150F ENST00000281513 NM_015909.3 2150 Att/Ttt 0 Missense_Mutation T 51 NBAS SNP 2 T A 15247963 15247963 Broad APOB 338 broad.mit.edu GRCh37 2 21230478 21230478 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000233242.1:c.9262C>A p.Gln3088Lys p.Q3088K ENST00000233242 NM_000384.2 3088 Caa/Aaa 0 Missense_Mutation G 46 APOB SNP 2 G T 21083983 21083983 Broad OTOF 9381 broad.mit.edu GRCh37 2 26686897 26686897 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000272371.2:c.5038C>T p.Arg1680Cys p.R1680C ENST00000272371 NM_194248.2 1680 Cgc/Tgc 0 Missense_Mutation G 39 OTOF SNP 2 G A 26540401 26540401 Broad CIB4 130106 broad.mit.edu GRCh37 2 26818119 26818119 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000288861.4:c.253G>A p.Val85Met p.V85M ENST00000288861 NM_001029881.1 85 Gtg/Atg 0 Missense_Mutation C 17 CIB4 SNP 2 C T 26671623 26671623 Broad ALK 238 broad.mit.edu GRCh37 2 30143334 30143334 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000389048.3:c.192C>A p.Phe64Leu p.F64L ENST00000389048 NM_004304.4 64 ttC/ttA 0 Missense_Mutation G 41 ALK SNP 2 G T 29996838 29996838 Broad FANCL 55120 broad.mit.edu GRCh37 2 58386928 58386928 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000402135.3:c.1115C>T p.Thr372Ile p.T372I ENST00000402135 NM_001114636.1 372 aCc/aTc 0 Missense_Mutation G 44 FANCL SNP 2 G A 58240432 58240432 Broad PUS10 150962 broad.mit.edu GRCh37 2 61236067 61236067 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000316752.6:c.210A>C p.Lys70Asn p.K70N ENST00000316752 NM_144709.2 70 aaA/aaC 0 Missense_Mutation T 64 PUS10 SNP 2 T G 61089571 61089571 Broad SCTR 6344 broad.mit.edu GRCh37 2 120231098 120231098 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000019103.5:c.336G>T p.Trp112Cys p.W112C ENST00000019103 NM_002980.2 112 tgG/tgT 0 Missense_Mutation C 18 SCTR SNP 2 C A 119947568 119947568 Broad IFIH1 64135 broad.mit.edu GRCh37 2 163144689 163144689 + missense_variant Missense_Mutation SNP T T C rs35207787 Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000263642.2:c.1051A>G p.Lys351Glu p.K351E ENST00000263642 NM_022168.3 351 Aaa/Gaa 0 Missense_Mutation T 62 IFIH1 SNP 2 T C 162852935 162852935 Broad COBLL1 22837 broad.mit.edu GRCh37 2 165550786 165550786 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000342193.4:c.3230C>G p.Ser1077Cys p.S1077C ENST00000342193 NM_014900.4 1077 tCt/tGt 0 Missense_Mutation G 33 COBLL1 SNP 2 G C 165259032 165259032 Broad HNRNPA3 220988 broad.mit.edu GRCh37 2 178082475 178082475 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000392524.2:c.863G>T p.Gly288Val p.G288V ENST00000392524 288 gGc/gTc 0 Missense_Mutation G 42 HNRNPA3 SNP 2 G T 177790721 177790721 Broad ZNF142 7701 broad.mit.edu GRCh37 2 219509559 219509559 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000411696.2:c.1680G>C p.Leu560= p.L560= ENST00000411696 560 ctG/ctC 0 Silent C 29 ZNF142 SNP 2 C G 219217803 219217803 Broad UGT1A3 54659 broad.mit.edu GRCh37 2 234638614 234638614 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000482026.1:c.842G>C p.Cys281Ser p.C281S ENST00000482026 281 tGt/tCt 0 Missense_Mutation G 48 UGT1A3 SNP 2 G C 234303353 234303353 Broad ACSS1 84532 broad.mit.edu GRCh37 20 25011592 25011592 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000323482.4:c.434A>T p.Glu145Val p.E145V ENST00000323482 NM_001252675.1 145 gAa/gTa 0 Missense_Mutation T 62 ACSS1 SNP 20 T A 24959592 24959592 Broad ASPHD2 57168 broad.mit.edu GRCh37 22 26829725 26829725 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000215906.5:c.144C>T p.Thr48= p.T48= ENST00000215906 NM_020437.4 48 acC/acT 0 Silent C 23 ASPHD2 SNP 22 C T 25159725 25159725 Broad TBC1D10A 83874 broad.mit.edu GRCh37 22 30700527 30700527 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000403477.3:c.323A>G p.His108Arg p.H108R ENST00000403477 NM_001204240.1 108 cAc/cGc 0 Missense_Mutation T 59 TBC1D10A SNP 22 T C 29030527 29030527 Broad PISD 23761 broad.mit.edu GRCh37 22 32015655 32015655 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000382151.2:c.1071T>C p.Asn357= p.N357= ENST00000382151 357 aaT/aaC 0 Silent A 4 PISD SNP 22 A G 30345655 30345655 Broad TCF20 6942 broad.mit.edu GRCh37 22 42609746 42609746 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000359486.3:c.1566C>G p.Gly522= p.G522= ENST00000359486 NM_005650.2 522 ggC/ggG 0 Silent G 34 TCF20 SNP 22 G C 40939690 40939690 Broad SBF1 6305 broad.mit.edu GRCh37 22 50902822 50902822 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000380817.3:c.1685G>C p.Arg562Pro p.R562P ENST00000380817 NM_002972.2 562 cGg/cCg 0 Missense_Mutation C 23 SBF1 SNP 22 C G 49249688 49249688 Broad MITF 4286 broad.mit.edu GRCh37 3 70014107 70014107 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000352241.4:c.1271A>C p.Asn424Thr p.N424T ENST00000352241 NM_198159.2 424 aAc/aCc 0 Missense_Mutation A 2 MITF SNP 3 A C 70096797 70096797 Broad HMCES 56941 broad.mit.edu GRCh37 3 129023640 129023640 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000383463.4:c.1037C>G p.Pro346Arg p.P346R ENST00000383463 NM_020187.2 346 cCt/cGt 0 Missense_Mutation C 24 C3orf37 SNP 3 C G 130506330 130506330 Broad CHST2 9435 broad.mit.edu GRCh37 3 142840830 142840830 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000309575.3:c.1172C>T p.Ala391Val p.A391V ENST00000309575 NM_004267.4 391 gCt/gTt 0 Missense_Mutation C 28 CHST2 SNP 3 C T 144323520 144323520 Broad VPS8 23355 broad.mit.edu GRCh37 3 184585842 184585842 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000437079.3:c.1501A>G p.Arg501Gly p.R501G ENST00000437079 NM_001009921.2 501 Aga/Gga 0 Missense_Mutation A 11 VPS8 SNP 3 A G 186068536 186068536 Broad TEC 7006 broad.mit.edu GRCh37 4 48140734 48140734 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000381501.3:c.1760C>T p.Pro587Leu p.P587L ENST00000381501 NM_003215.2 587 cCg/cTg 0 Missense_Mutation G 39 TEC SNP 4 G A 47835491 47835491 Broad KIT 3815 broad.mit.edu GRCh37 4 55604673 55604673 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000288135.5:c.2881G>A p.Gly961Ser p.G961S ENST00000288135 NM_000222.2 961 Ggc/Agc 0 Missense_Mutation G 39 KIT SNP 4 G A 55299430 55299430 Broad GK2 2712 broad.mit.edu GRCh37 4 80328507 80328507 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000358842.3:c.848G>T p.Cys283Phe p.C283F ENST00000358842 NM_033214.2 283 tGc/tTc 0 Missense_Mutation C 25 GK2 SNP 4 C A 80547531 80547531 Broad TNFAIP8 25816 broad.mit.edu GRCh37 5 118728778 118728778 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000504771.2:c.299A>C p.Glu100Ala p.E100A ENST00000504771 NM_014350.3 100 gAg/gCg 0 Missense_Mutation A 11 TNFAIP8 SNP 5 A C 118756677 118756677 Broad C5orf48 389320 broad.mit.edu GRCh37 5 125971835 125971835 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000357147.3:c.307C>G p.Pro103Ala p.P103A ENST00000357147 NM_207408.1 103 Cca/Gca 0 Missense_Mutation C 22 C5orf48 SNP 5 C G 125999734 125999734 Broad PCDHB2 56133 broad.mit.edu GRCh37 5 140476407 140476407 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000194155.4:c.2033C>T p.Ala678Val p.A678V ENST00000194155 NM_018936.2 678 gCg/gTg 0 Missense_Mutation C 27 PCDHB2 SNP 5 C T 140456591 140456591 Broad PCDHB7 56129 broad.mit.edu GRCh37 5 140553318 140553318 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000231137.3:c.902T>C p.Leu301Pro p.L301P ENST00000231137 NM_018940.2 301 cTt/cCt 0 Missense_Mutation T 56 PCDHB7 SNP 5 T C 140533502 140533502 Broad ZNF318 24149 broad.mit.edu GRCh37 6 43306905 43306905 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000361428.2:c.4831G>A p.Asp1611Asn p.D1611N ENST00000361428 NM_014345.2 1611 Gac/Aac 0 Missense_Mutation C 32 ZNF318 SNP 6 C T 43414883 43414883 Broad GSTA2 2939 broad.mit.edu GRCh37 6 52621092 52621092 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000493422.1:c.103A>T p.Ile35Leu p.I35L ENST00000493422 NM_000846.4 35 Ata/Tta 0 Missense_Mutation T 49 GSTA2 SNP 6 T A 52729051 52729051 Broad GARS 2617 broad.mit.edu GRCh37 7 30655605 30655605 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000389266.3:c.1125G>T p.Leu375Phe p.L375F ENST00000389266 NM_002047.2 375 ttG/ttT 0 Missense_Mutation G 48 GARS SNP 7 G T 30622130 30622130 Broad PPP1R9A 55607 broad.mit.edu GRCh37 7 94827712 94827712 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000433360.1:c.1806G>C p.Leu602Phe p.L602F ENST00000433360 NM_001166160.1 602 ttG/ttC 0 Missense_Mutation G 45 PPP1R9A SNP 7 G C 94665648 94665648 Broad ZNF655 79027 broad.mit.edu GRCh37 7 99170957 99170957 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000424881.1:c.1331A>G p.Glu444Gly p.E444G ENST00000424881 NM_001085368.1 444 gAa/gGa 0 Missense_Mutation A 9 ZNF655 SNP 7 A G 99008893 99008893 Broad RINT1 60561 broad.mit.edu GRCh37 7 105187420 105187420 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000257700.2:c.579T>G p.Ser193= p.S193= ENST00000257700 NM_021930.4 193 tcT/tcG 0 Silent T 53 RINT1 SNP 7 T G 104974656 104974656 Broad NDUFB2 4708 broad.mit.edu GRCh37 7 140404711 140404711 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000476279.1:c.295A>G p.Ile99Val p.I99V ENST00000476279 99 Atc/Gtc 0 Missense_Mutation A 16 NDUFB2 SNP 7 A G 140051180 140051180 Broad OR2F2 135948 broad.mit.edu GRCh37 7 143632419 143632419 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000408955.2:c.94T>A p.Leu32Met p.L32M ENST00000408955 NM_001004685.1 32 Ttg/Atg 0 Missense_Mutation T 56 OR2F2 SNP 7 T A 143263352 143263352 Broad ZNF425 155054 broad.mit.edu GRCh37 7 148801561 148801561 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000378061.2:c.1402A>C p.Lys468Gln p.K468Q ENST00000378061 NM_001001661.2 468 Aag/Cag 0 Missense_Mutation T 64 ZNF425 SNP 7 T G 148432494 148432494 Broad PAXIP1 22976 broad.mit.edu GRCh37 7 154760786 154760786 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000404141.1:c.1125T>G p.Asn375Lys p.N375K ENST00000404141 375 aaT/aaG 0 Missense_Mutation A 12 PAXIP1 SNP 7 A C 154391719 154391719 Broad SNAI2 6591 broad.mit.edu GRCh37 8 49832680 49832680 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000396822.1:c.400A>G p.Asn134Asp p.N134D ENST00000396822 134 Aat/Gat 0 Missense_Mutation T 63 SNAI2 SNP 8 T C 49995233 49995233 Broad TMEM68 137695 broad.mit.edu GRCh37 8 56668869 56668869 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000334667.2:c.427A>G p.Lys143Glu p.K143E ENST00000334667 NM_152417.1 143 Aaa/Gaa 0 Missense_Mutation T 61 TMEM68 SNP 8 T C 56831423 56831423 Broad IMPAD1 54928 broad.mit.edu GRCh37 8 57878752 57878752 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000262644.4:c.806C>G p.Ala269Gly p.A269G ENST00000262644 NM_017813.4 269 gCt/gGt 0 Missense_Mutation G 34 IMPAD1 SNP 8 G C 58041306 58041306 Broad MPDZ 8777 broad.mit.edu GRCh37 9 13188816 13188816 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000541718.1:c.2331G>T p.Gly777= p.G777= ENST00000541718 NM_001261407.1 777 ggG/ggT 0 Silent C 30 MPDZ SNP 9 C A 13178816 13178816 Broad ADAMTSL1 92949 broad.mit.edu GRCh37 9 18504910 18504910 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000380548.4:c.147C>T p.Cys49= p.C49= ENST00000380548 NM_001040272.5 49 tgC/tgT 0 Silent C 27 ADAMTSL1 SNP 9 C T 18494910 18494910 Broad FOCAD 54914 broad.mit.edu GRCh37 9 20740325 20740325 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000380249.1:c.378T>C p.Ser126= p.S126= ENST00000380249 NM_017794.3 126 agT/agC 0 Silent T 57 KIAA1797 SNP 9 T C 20730325 20730325 Broad IFNA4 3441 broad.mit.edu GRCh37 9 21187176 21187176 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000421715.1:c.355C>T p.Leu119= p.L119= ENST00000421715 NM_021068.2 119 Ctg/Ttg 0 Silent G 35 IFNA4 SNP 9 G A 21177176 21177176 Broad COL15A1 1306 broad.mit.edu GRCh37 9 101829166 101829166 + splice_region_variant,synonymous_variant Splice_Region SNP G G T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000375001.3:c.3654G>T p.Leu1218= p.L1218= ENST00000375001 NM_001855.4 1218 ctG/ctT 0 Silent G 46 COL15A1 SNP 9 G T 100868987 100868987 Broad RNF20 56254 broad.mit.edu GRCh37 9 104307065 104307065 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000389120.3:c.645G>A p.Glu215= p.E215= ENST00000389120 NM_019592.6 215 gaG/gaA 0 Silent G 35 RNF20 SNP 9 G A 103346886 103346886 Broad CNTRL 11064 broad.mit.edu GRCh37 9 123877468 123877468 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000373855.1:c.1445A>C p.Gln482Pro p.Q482P ENST00000373855 482 cAa/cCa 0 Missense_Mutation A 5 CEP110 SNP 9 A C 122917289 122917289 Broad PIR 8544 broad.mit.edu GRCh37 X 15497905 15497905 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000380421.3:c.136A>G p.Lys46Glu p.K46E ENST00000380421 NM_001018109.2 46 Aaa/Gaa 0 Missense_Mutation T 61 PIR SNP 23 T C 15407826 15407826 Broad DMD 1756 broad.mit.edu GRCh37 X 31165499 31165499 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000357033.4:c.10690C>A p.Leu3564Ile p.L3564I ENST00000357033 NM_004007.2 3564 Cta/Ata 0 Missense_Mutation G 34 DMD SNP 23 G T 31075420 31075420 Broad XAGE5 170627 broad.mit.edu GRCh37 X 52844155 52844155 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000351072.1:c.218C>A p.Ser73Ter p.S73* ENST00000351072 73 tCa/tAa 0 Nonsense_Mutation C 29 XAGE5 SNP 23 C A 52860880 52860880 Broad NKAP 79576 broad.mit.edu GRCh37 X 119077312 119077312 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000371410.3:c.257C>T p.Ala86Val p.A86V ENST00000371410 NM_024528.3 86 gCg/gTg 0 Missense_Mutation G 38 NKAP SNP 23 G A 118961340 118961340 Broad STAG2 10735 broad.mit.edu GRCh37 X 123200090 123200090 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000218089.9:c.2162A>T p.Glu721Val p.E721V ENST00000218089 NM_001042749.1 721 gAa/gTa 0 Missense_Mutation A 9 STAG2 SNP 23 A T 123027771 123027771 Broad TENM1 10178 broad.mit.edu GRCh37 X 123775707 123775707 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000422452.2:c.2011A>T p.Thr671Ser p.T671S ENST00000422452 NM_001163279.1 671 Act/Tct 0 Missense_Mutation T 60 ODZ1 SNP 23 T A 123603388 123603388 Broad GPR112 139378 broad.mit.edu GRCh37 X 135485439 135485439 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000394143.1:c.8612T>G p.Val2871Gly p.V2871G ENST00000394143 NM_153834.3 2871 gTg/gGg 0 Missense_Mutation T 59 GPR112 SNP 23 T G 135313105 135313105 Broad ATP11C 286410 broad.mit.edu GRCh37 X 138901496 138901496 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000327569.3:c.246+1G>A p.X82_splice ENST00000327569 NM_173694.4 0 Splice_Site_SNP C 18 ATP11C SNP 23 C T 138729162 138729162 Broad G6PD 2539 broad.mit.edu GRCh37 X 153760891 153760891 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown x x x ENST00000393562.2:c.1268G>T p.Arg423Leu p.R423L ENST00000393562 NM_000402.3 423 cGc/cTc 0 Missense_Mutation C 27 G6PD SNP 23 C A 153414085 153414085 Broad TP53 7157 broad.mit.edu GRCh37 17 7577088 7577088 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-24-2267-01 TCGA-24-2267-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.850del p.Thr284GlnfsTer61 p.T284Qfs*61 ENST00000269305 NM_001126112.2 284 Aca/ca 0 Frame_Shift_Del T 59 TP53 DEL 17 - T 7517813 7517813 Broad TUBB8 347688 genome.wustl.edu GRCh37 10 93295 93295 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000309812.4:c.1037C>G p.Pro346Arg p.P346R ENST00000309812 NM_177987.2 346 cCc/cGc 0 Missense_Mutation G 43 TUBB8 SNP 10 G C 83295 83295 WashU TMEM74B 55321 genome.wustl.edu GRCh37 20 1162098 1162098 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381894.3:c.165C>A p.Thr55= p.T55= ENST00000381894 NM_018354.1 55 acC/acA 0 Silent G 47 C20orf46 SNP 20 G T 1110098 1110098 WashU MYT1L 23040 genome.wustl.edu GRCh37 2 1926084 1926084 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000428368.2:c.1457A>T p.His486Leu p.H486L ENST00000428368 486 cAt/cTt 0 Missense_Mutation T 51 MYT1L SNP 2 T A 1905091 1905091 WashU MYT1L 23040 genome.wustl.edu GRCh37 2 1926830 1926830 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000428368.2:c.711T>G p.Ser237Arg p.S237R ENST00000428368 237 agT/agG 0 Missense_Mutation A 6 MYT1L SNP 2 A C 1905837 1905837 WashU RASSF2 9770 genome.wustl.edu GRCh37 20 4770300 4770300 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379400.3:c.581G>A p.Arg194His p.R194H ENST00000379400 NM_014737.2 194 cGc/cAc 0 Missense_Mutation C 27 RASSF2 SNP 20 C T 4718300 4718300 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578400 7578400 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000269305.4:c.530C>G p.Pro177Arg p.P177R ENST00000269305 NM_001126112.2 177 cCc/cGc 0 Missense_Mutation G 43 TP53 SNP 17 G C 7519125 7519125 WashU LSMD1 84316 genome.wustl.edu GRCh37 17 7760635 7760635 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000333775.5:c.107C>T p.Thr36Ile p.T36I ENST00000333775 NM_032356.3 36 aCt/aTt 0 Missense_Mutation G 36 LSMD1 SNP 17 G A 7701360 7701360 WashU ANGPTL4 51129 genome.wustl.edu GRCh37 19 8431185 8431185 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000301455.2:c.529A>C p.Asn177His p.N177H ENST00000301455 NM_139314.1 177 Aat/Cat 0 Missense_Mutation A 5 ANGPTL4 SNP 19 A C 8337185 8337185 WashU WDR1 9948 genome.wustl.edu GRCh37 4 10079011 10079011 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000499869.2:c.1631A>G p.Asn544Ser p.N544S ENST00000499869 544 aAt/aGt 0 Missense_Mutation T 52 WDR1 SNP 4 T C 9688109 9688109 WashU SAMSN1 64092 genome.wustl.edu GRCh37 21 15873052 15873052 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000285670.2:c.770G>A p.Gly257Glu p.G257E ENST00000285670 NM_001256370.1 257 gGa/gAa 0 Missense_Mutation C 30 SAMSN1 SNP 21 C T 14794923 14794923 WashU KAZN 23254 genome.wustl.edu GRCh37 1 15392125 15392125 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376030.2:c.1099-1G>T p.X367_splice ENST00000376030 NM_201628.2 0 Splice_Site_SNP G 36 KIAA1026 SNP 1 G T 15264712 15264712 WashU UBR4 23352 genome.wustl.edu GRCh37 1 19480386 19480386 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375254.3:c.6506A>C p.Glu2169Ala p.E2169A ENST00000375254 NM_020765.2 2169 gAg/gCg 0 Missense_Mutation T 54 UBR4 SNP 1 T G 19352973 19352973 WashU OR4K2 390431 genome.wustl.edu GRCh37 14 20345280 20345280 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298642.2:c.854T>A p.Ile285Lys p.I285K ENST00000298642 NM_001005501.1 285 aTa/aAa 0 Missense_Mutation T 49 OR4K2 SNP 14 T A 19415120 19415120 WashU OSBPL1A 114876 genome.wustl.edu GRCh37 18 21897130 21897130 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319481.3:c.853A>C p.Thr285Pro p.T285P ENST00000319481 NM_080597.3 285 Act/Cct 0 Missense_Mutation T 58 OSBPL1A SNP 18 T G 20151128 20151128 WashU IGLV3-22 28795 genome.wustl.edu GRCh37 22 23047142 23047142 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000390307.2:c.180G>C p.Gln60His p.Q60H ENST00000390307 60 caG/caC 0 Missense_Mutation G 35 IGLV3-22 SNP 22 G C 21377142 21377142 WashU PSME1 5720 genome.wustl.edu GRCh37 14 24607315 24607315 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382708.3:c.448G>T p.Val150Leu p.V150L ENST00000382708 NM_176783.2 150 Gtg/Ttg 0 Missense_Mutation G 36 PSME1 SNP 14 G T 23677155 23677155 WashU ITSN2 50618 genome.wustl.edu GRCh37 2 24433676 24433676 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000355123.4:c.4230G>A p.Ala1410= p.A1410= ENST00000355123 NM_006277.2 1410 gcG/gcA 0 Silent C 27 ITSN2 SNP 2 C T 24287180 24287180 WashU EBF2 64641 genome.wustl.edu GRCh37 8 25744284 25744284 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000520164.1:c.996G>T p.Arg332Ser p.R332S ENST00000520164 NM_022659.3 332 agG/agT 0 Missense_Mutation C 18 EBF2 SNP 8 C A 25800201 25800201 WashU TEK 7010 genome.wustl.edu GRCh37 9 27217734 27217734 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380036.4:c.3040G>T p.Val1014Leu p.V1014L ENST00000380036 NM_000459.3 1014 Gtg/Ttg 0 Missense_Mutation G 48 TEK SNP 9 G T 27207734 27207734 WashU CAD 790 genome.wustl.edu GRCh37 2 27440863 27440863 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264705.4:c.201G>C p.Met67Ile p.M67I ENST00000264705 NM_004341.3 67 atG/atC 0 Missense_Mutation G 47 CAD SNP 2 G C 27294367 27294367 WashU HIST1H3H 8357 genome.wustl.edu GRCh37 6 27777876 27777876 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369163.2:c.25C>G p.Arg9Gly p.R9G ENST00000369163 NM_003536.2 9 Cgc/Ggc 0 Missense_Mutation C 31 HIST1H3H SNP 6 C G 27885855 27885855 WashU HIST1H4J 8363 genome.wustl.edu GRCh37 6 27792189 27792189 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355057.1:c.287G>T p.Arg96Leu p.R96L ENST00000355057 NM_021968.3 96 cGc/cTc 0 Missense_Mutation G 38 HIST1H4J SNP 6 G T 27900168 27900168 WashU HLA-G 3135 genome.wustl.edu GRCh37 6 29797709 29797709 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000428701.1:c.1012G>T p.Asp338Tyr p.D338Y ENST00000428701 NM_002127.5 338 Gat/Tat 0 Missense_Mutation G 35 HLA-G SNP 6 G T 29905688 29905688 WashU ARHGAP5 394 genome.wustl.edu GRCh37 14 32560545 32560545 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000345122.3:c.670G>T p.Val224Leu p.V224L ENST00000345122 NM_001030055.1 224 Gta/Tta 0 Missense_Mutation G 48 ARHGAP5 SNP 14 G T 31630296 31630296 WashU PRRC2A 7916 genome.wustl.edu GRCh37 6 31594906 31594906 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000376033.2:c.1221C>G p.Ala407= p.A407= ENST00000376033 NM_004638.3 407 gcC/gcG 0 Silent C 22 BAT2 SNP 6 C G 31702885 31702885 WashU TAPBP 6892 genome.wustl.edu GRCh37 6 33272224 33272224 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000426633.2:c.1060C>T p.His354Tyr p.H354Y ENST00000426633 NM_172208.2 354 Cac/Tac 0 Missense_Mutation G 47 TAPBP SNP 6 G A 33380202 33380202 WashU DLGAP3 58512 genome.wustl.edu GRCh37 1 35332721 35332721 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000373347.1:c.2649C>G p.Ile883Met p.I883M ENST00000373347 883 atC/atG 0 Missense_Mutation G 37 DLGAP3 SNP 1 G C 35105308 35105308 WashU RARA 5914 genome.wustl.edu GRCh37 17 38511642 38511642 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000254066.5:c.1140G>C p.Lys380Asn p.K380N ENST00000254066 NM_000964.3 380 aaG/aaC 0 Missense_Mutation G 33 RARA SNP 17 G C 35765168 35765168 WashU NPR2 4882 genome.wustl.edu GRCh37 9 35808671 35808671 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342694.2:c.2878G>T p.Val960Phe p.V960F ENST00000342694 NM_003995.3 960 Gtc/Ttc 0 Missense_Mutation G 44 NPR2 SNP 9 G T 35798671 35798671 WashU C6orf222 389384 genome.wustl.edu GRCh37 6 36297864 36297864 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000437635.2:c.604C>G p.Arg202Gly p.R202G ENST00000437635 NM_001010903.4 202 Cgc/Ggc 0 Missense_Mutation G 37 C6orf222 SNP 6 G C 36405842 36405842 WashU NKIRAS2 28511 genome.wustl.edu GRCh37 17 40174624 40174624 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307641.5:c.302A>T p.Lys101Met p.K101M ENST00000307641 NM_001001349.2 101 aAg/aTg 0 Missense_Mutation A 3 NKIRAS2 SNP 17 A T 37428150 37428150 WashU DPY19L3 147991 genome.wustl.edu GRCh37 19 32973053 32973053 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342179.5:c.2058G>A p.Glu686= p.E686= ENST00000342179 NM_207325.2 686 gaG/gaA 0 Silent G 33 DPY19L3 SNP 19 G A 37664893 37664893 WashU RIT2 6014 genome.wustl.edu GRCh37 18 40554110 40554110 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326695.5:c.163G>A p.Asp55Asn p.D55N ENST00000326695 NM_002930.3 55 Gat/Aat 0 Missense_Mutation C 32 RIT2 SNP 18 C T 38808108 38808108 WashU DNAH8 1769 genome.wustl.edu GRCh37 6 38939426 38939426 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000359357.3:c.11859G>C p.Gln3953His p.Q3953H ENST00000359357 3953 caG/caC 0 Missense_Mutation G 33 DNAH8 SNP 6 G C 39047404 39047404 WashU CDAN1 146059 genome.wustl.edu GRCh37 15 43017413 43017413 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356231.3:c.3487G>C p.Glu1163Gln p.E1163Q ENST00000356231 NM_138477.2 1163 Gag/Cag 0 Missense_Mutation C 30 CDAN1 SNP 15 C G 40804705 40804705 WashU NKTR 4820 genome.wustl.edu GRCh37 3 42678485 42678485 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000232978.8:c.1289G>A p.Arg430His p.R430H ENST00000232978 NM_005385.3 430 cGc/cAc 0 Missense_Mutation G 38 NKTR SNP 3 G A 42653489 42653489 WashU POTEA 340441 genome.wustl.edu GRCh37 8 43152267 43152267 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000519951.2:n.406C>A *136* ENST00000519951 0 Missense_Mutation C 28 POTEA SNP 8 C A 43271424 43271424 WashU ZNF32 7580 genome.wustl.edu GRCh37 10 44140100 44140100 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395797.1:c.220C>A p.Gln74Lys p.Q74K ENST00000395797 NM_001005368.1 74 Caa/Aaa 0 Missense_Mutation G 48 ZNF32 SNP 10 G T 43460106 43460106 WashU DPH2 1802 genome.wustl.edu GRCh37 1 44437211 44437211 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000255108.3:c.637G>A p.Glu213Lys p.E213K ENST00000255108 NM_001384.4 213 Gag/Aag 0 Missense_Mutation G 33 DPH2 SNP 1 G A 44209798 44209798 WashU SLC13A3 64849 genome.wustl.edu GRCh37 20 45239128 45239128 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000279027.4:c.498G>T p.Lys166Asn p.K166N ENST00000279027 NM_001193342.1 166 aaG/aaT 0 Missense_Mutation C 24 SLC13A3 SNP 20 C A 44672535 44672535 WashU PKDREJ 10343 genome.wustl.edu GRCh37 22 46655066 46655066 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253255.5:c.4154A>G p.Asn1385Ser p.N1385S ENST00000253255 NM_006071.1 1385 aAt/aGt 0 Missense_Mutation T 52 PKDREJ SNP 22 T C 45033730 45033730 WashU NUP160 23279 genome.wustl.edu GRCh37 11 47830021 47830021 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000378460.2:c.2302C>T p.Pro768Ser p.P768S ENST00000378460 NM_015231.1 768 Ccc/Tcc 0 Missense_Mutation G 41 NUP160 SNP 11 G A 47786597 47786597 WashU STON1-GTF2A1L 286749 genome.wustl.edu GRCh37 2 48873704 48873704 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394754.1:c.2613A>G p.Val871= p.V871= ENST00000394754 NM_172311.2 871 gtA/gtG 0 Silent A 13 STON1-GTF2A1L SNP 2 A G 48727208 48727208 WashU ANKRD33 341405 genome.wustl.edu GRCh37 12 52284732 52284732 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000301190.6:c.1002G>A p.Ser334= p.S334= ENST00000301190 NM_001130015.1 334 tcG/tcA 0 Silent G 38 ANKRD33 SNP 12 G A 50570999 50570999 WashU FRMD6 122786 genome.wustl.edu GRCh37 14 52194515 52194515 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344768.5:c.1637A>G p.Asp546Gly p.D546G ENST00000344768 546 gAt/gGt 0 Missense_Mutation A 12 FRMD6 SNP 14 A G 51264265 51264265 WashU CCDC114 93233 genome.wustl.edu GRCh37 19 48801337 48801337 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315396.7:c.1311C>T p.Ala437= p.A437= ENST00000315396 NM_144577.3 437 gcC/gcT 0 Silent G 39 CCDC114 SNP 19 G A 53493149 53493149 WashU MPO 4353 genome.wustl.edu GRCh37 17 56351009 56351009 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000225275.3:c.1387C>T p.Leu463= p.L463= ENST00000225275 NM_000250.1 463 Ctg/Ttg 0 Silent G 35 MPO SNP 17 G A 53706008 53706008 WashU NACA 4666 genome.wustl.edu GRCh37 12 57106972 57106972 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000550952.1:c.2514C>G p.Ile838Met p.I838M ENST00000550952 838 atC/atG 0 Missense_Mutation G 37 NACA SNP 12 G C 55393239 55393239 WashU CCDC88A 55704 genome.wustl.edu GRCh37 2 55589505 55589505 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336838.6:c.566T>C p.Leu189Pro p.L189P ENST00000336838 189 cTc/cCc 0 Missense_Mutation A 11 CCDC88A SNP 2 A G 55443009 55443009 WashU NLRC5 84166 genome.wustl.edu GRCh37 16 57099195 57099195 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262510.6:c.4226G>T p.Ser1409Ile p.S1409I ENST00000262510 NM_032206.4 1409 aGt/aTt 0 Missense_Mutation G 36 NLRC5 SNP 16 G T 55656696 55656696 WashU GLI1 2735 genome.wustl.edu GRCh37 12 57864419 57864419 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000228682.2:c.1896T>A p.Asn632Lys p.N632K ENST00000228682 NM_005269.2 632 aaT/aaA 0 Missense_Mutation T 51 GLI1 SNP 12 T A 56150686 56150686 WashU GLYATL2 219970 genome.wustl.edu GRCh37 11 58604522 58604522 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000287275.1:c.442A>C p.Lys148Gln p.K148Q ENST00000287275 NM_145016.3 148 Aag/Cag 0 Missense_Mutation T 63 GLYATL2 SNP 11 T G 58361098 58361098 WashU ERN1 2081 genome.wustl.edu GRCh37 17 62175507 62175507 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000433197.3:c.149G>C p.Gly50Ala p.G50A ENST00000433197 NM_001433.3 50 gGc/gCc 0 Missense_Mutation C 26 ERN1 SNP 17 C G 59529239 59529239 WashU CCDC87 55231 genome.wustl.edu GRCh37 11 66360237 66360237 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333861.3:c.250A>T p.Ile84Phe p.I84F ENST00000333861 NM_018219.2 84 Atc/Ttc 0 Missense_Mutation T 51 CCDC87 SNP 11 T A 66116813 66116813 WashU COG1 9382 genome.wustl.edu GRCh37 17 71196786 71196786 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299886.4:c.1152C>G p.Asp384Glu p.D384E ENST00000299886 NM_018714.2 384 gaC/gaG 0 Missense_Mutation C 19 COG1 SNP 17 C G 68708381 68708381 WashU PHKA1 5255 genome.wustl.edu GRCh37 X 71831000 71831000 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373542.4:c.2404C>T p.Arg802Trp p.R802W ENST00000373542 NM_002637.3 802 Cgg/Tgg 0 Missense_Mutation G 40 PHKA1 SNP 23 G A 71747725 71747725 WashU TYW1B genome.wustl.edu GRCh37 7 72285959 72285959 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000438904.2:c.237G>T p.Glu79Asp p.E79D ENST00000438904 79 gaG/gaT 0 Missense_Mutation C 24 ENSG00000188463 SNP 7 C A 71923895 71923895 WashU PAPD4 167153 genome.wustl.edu GRCh37 5 78977828 78977828 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000453514.1:c.1324G>T p.Ala442Ser p.A442S ENST00000453514 NM_001114394.1 442 Gcc/Tcc 0 Missense_Mutation G 34 PAPD4 SNP 5 G T 79013584 79013584 WashU ZMIZ1 57178 genome.wustl.edu GRCh37 10 81064923 81064923 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334512.5:c.2289C>A p.Cys763Ter p.C763* ENST00000334512 NM_020338.3 763 tgC/tgA 0 Nonsense_Mutation C 28 ZMIZ1 SNP 10 C A 80734929 80734929 WashU NECAB2 54550 genome.wustl.edu GRCh37 16 84035482 84035482 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000305202.4:c.1093C>T p.Leu365= p.L365= ENST00000305202 NM_019065.2 365 Ctg/Ttg 0 Silent C 20 NECAB2 SNP 16 C T 82592983 82592983 WashU DNAAF1 123872 genome.wustl.edu GRCh37 16 84203530 84203530 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378553.5:c.1096C>A p.Pro366Thr p.P366T ENST00000378553 NM_178452.4 366 Ccc/Acc 0 Missense_Mutation C 30 LRRC50 SNP 16 C A 82761031 82761031 WashU MGAT4C 25834 genome.wustl.edu GRCh37 12 86373591 86373591 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000604798.1:c.913A>G p.Lys305Glu p.K305E ENST00000604798 305 Aaa/Gaa 0 Missense_Mutation T 61 MGAT4C SNP 12 T C 84897722 84897722 WashU ABHD2 11057 genome.wustl.edu GRCh37 15 89719205 89719205 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000352732.5:c.701G>C p.Cys234Ser p.C234S ENST00000352732 NM_152924.4 234 tGc/tCc 0 Missense_Mutation G 46 ABHD2 SNP 15 G C 87520209 87520209 WashU STEAP2 261729 genome.wustl.edu GRCh37 7 89859252 89859252 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287908.3:c.1087T>A p.Phe363Ile p.F363I ENST00000287908 NM_152999.3 363 Ttt/Att 0 Missense_Mutation T 56 STEAP2 SNP 7 T A 89697188 89697188 WashU SAMD9 54809 genome.wustl.edu GRCh37 7 92733460 92733460 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379958.2:c.1951G>T p.Ala651Ser p.A651S ENST00000379958 NM_017654.3 651 Gct/Tct 0 Missense_Mutation C 25 SAMD9 SNP 7 C A 92571396 92571396 WashU MRPS5 64969 genome.wustl.edu GRCh37 2 95753174 95753174 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272418.2:c.1221C>T p.Asp407= p.D407= ENST00000272418 NM_031902.3 407 gaC/gaT 0 Silent G 36 MRPS5 SNP 2 G A 95116901 95116901 WashU BDKRB2 624 genome.wustl.edu GRCh37 14 96707828 96707828 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306005.3:c.1163G>A p.Gly388Glu p.G388E ENST00000306005 NM_000623.3 388 gGg/gAg 0 Missense_Mutation G 43 BDKRB2 SNP 14 G A 95777581 95777581 WashU ZNF169 169841 genome.wustl.edu GRCh37 9 97062517 97062517 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395395.2:c.677G>C p.Ser226Thr p.S226T ENST00000395395 NM_194320.2 226 aGc/aCc 0 Missense_Mutation G 34 ZNF169 SNP 9 G C 96102338 96102338 WashU DIAPH2 1730 genome.wustl.edu GRCh37 X 96396767 96396767 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324765.8:c.2693T>C p.Leu898Pro p.L898P ENST00000324765 898 cTg/cCg 0 Missense_Mutation T 55 DIAPH2 SNP 23 T C 96283423 96283423 WashU CNNM4 26504 genome.wustl.edu GRCh37 2 97464908 97464908 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000377075.2:c.1796G>A p.Arg599His p.R599H ENST00000377075 NM_020184.3 599 cGc/cAc 0 Missense_Mutation G 38 CNNM4 SNP 2 G A 96828635 96828635 WashU ZSCAN25 221785 genome.wustl.edu GRCh37 7 99227356 99227356 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394152.2:c.1348C>G p.Arg450Gly p.R450G ENST00000394152 NM_145115.2 450 Cgg/Ggg 0 Missense_Mutation C 23 ZNF498 SNP 7 C G 99065292 99065292 WashU MUC17 140453 genome.wustl.edu GRCh37 7 100663431 100663431 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306151.4:c.15G>A p.Gly5= p.G5= ENST00000306151 NM_001040105.1 5 ggG/ggA 0 Silent G 41 MUC17 SNP 7 G A 100450151 100450151 WashU SPAG1 6674 genome.wustl.edu GRCh37 8 101237454 101237454 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000388798.2:c.1742C>A p.Ser581Ter p.S581* ENST00000388798 NM_003114.4 581 tCa/tAa 0 Nonsense_Mutation C 29 SPAG1 SNP 8 C A 101306630 101306630 WashU NXF3 56000 genome.wustl.edu GRCh37 X 102338425 102338425 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000395065.3:c.441C>A p.His147Gln p.H147Q ENST00000395065 NM_022052.1 147 caC/caA 0 Missense_Mutation G 36 NXF3 SNP 23 G T 102225081 102225081 WashU OR13C5 138799 genome.wustl.edu GRCh37 9 107361263 107361263 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374779.2:c.432G>T p.Met144Ile p.M144I ENST00000374779 NM_001004482.1 144 atG/atT 0 Missense_Mutation C 21 OR13C5 SNP 9 C A 106401084 106401084 WashU NTNG1 22854 genome.wustl.edu GRCh37 1 107867515 107867515 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370068.1:c.858C>G p.Tyr286Ter p.Y286* ENST00000370068 286 taC/taG 0 Nonsense_Mutation C 19 NTNG1 SNP 1 C G 107669038 107669038 WashU ZNF462 58499 genome.wustl.edu GRCh37 9 109689704 109689704 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000277225.5:c.3511G>A p.Ala1171Thr p.A1171T ENST00000277225 1171 Gcc/Acc 0 Missense_Mutation G 38 ZNF462 SNP 9 G A 108729525 108729525 WashU RBM15 64783 genome.wustl.edu GRCh37 1 110888225 110888225 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369784.3:c.2928G>A p.Leu976= p.L976= ENST00000369784 NM_022768.4 976 ctG/ctA 0 Silent G 48 RBM15 SNP 1 G A 110689748 110689748 WashU OAS1 4938 genome.wustl.edu GRCh37 12 113348909 113348909 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000445409.2:c.523G>A p.Glu175Lys p.E175K ENST00000445409 NM_001032409.1 175 Gag/Aag 0 Missense_Mutation G 37 OAS1 SNP 12 G A 111833292 111833292 WashU PALM2AKAP2 445815 genome.wustl.edu GRCh37 9 112899700 112899700 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374530.3:c.1876G>C p.Gly626Arg p.G626R ENST00000374530 NM_007203.4 626 Ggt/Cgt 0 Missense_Mutation G 39 PALM2-AKAP2 SNP 9 G C 111939521 111939521 WashU FAM212B 55924 genome.wustl.edu GRCh37 1 112270206 112270206 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357260.5:c.278C>G p.Pro93Arg p.P93R ENST00000357260 NM_019099.4 93 cCc/cGc 0 Missense_Mutation G 43 C1orf183 SNP 1 G C 112071729 112071729 WashU ALPK1 80216 genome.wustl.edu GRCh37 4 113353247 113353247 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000458497.1:c.2544C>T p.Ala848= p.A848= ENST00000458497 NM_001102406.1 848 gcC/gcT 0 Silent C 24 ALPK1 SNP 4 C T 113572696 113572696 WashU AP4B1 10717 genome.wustl.edu GRCh37 1 114444379 114444379 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369569.1:c.467T>G p.Val156Gly p.V156G ENST00000369569 NM_001253852.1 156 gTa/gGa 0 Missense_Mutation A 14 AP4B1 SNP 1 A C 114245902 114245902 WashU HIPK1 204851 genome.wustl.edu GRCh37 1 114483215 114483215 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369558.1:c.210C>G p.Tyr70Ter p.Y70* ENST00000369558 70 taC/taG 0 Nonsense_Mutation C 19 HIPK1 SNP 1 C G 114284738 114284738 WashU FBXW8 26259 genome.wustl.edu GRCh37 12 117365883 117365883 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000309909.5:c.374T>C p.Ile125Thr p.I125T ENST00000309909 125 aTc/aCc 0 Missense_Mutation T 50 FBXW8 SNP 12 T C 115850266 115850266 WashU PHLDB1 23187 genome.wustl.edu GRCh37 11 118501932 118501933 + missense_variant Missense_Mutation DNP GC GC CT novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 GC GC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000361417.2:c.1836_1837delinsCT p.Gln612_Arg613delinsHisCys p.Q612_R613delinsHC ENST00000361417 NM_015157.3 612 caGCgc/caCTgc 0 Missense_Mutation GC 34 PHLDB1 DNP 11 GC CT 118007143 118007142 WashU CPED1 79974 genome.wustl.edu GRCh37 7 120686959 120686959 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310396.5:c.452A>G p.Asp151Gly p.D151G ENST00000310396 NM_024913.4 151 gAt/gGt 0 Missense_Mutation A 12 C7orf58 SNP 7 A G 120474195 120474195 WashU NCKAP5 344148 genome.wustl.edu GRCh37 2 133541588 133541588 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409261.1:c.2796T>A p.Pro932= p.P932= ENST00000409261 NM_207363.2 932 ccT/ccA 0 Silent A 11 NCKAP5 SNP 2 A T 133258058 133258058 WashU KHDRBS3 10656 genome.wustl.edu GRCh37 8 136657328 136657328 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355849.5:c.917A>G p.His306Arg p.H306R ENST00000355849 NM_006558.1 306 cAt/cGt 0 Missense_Mutation A 8 KHDRBS3 SNP 8 A G 136726510 136726510 WashU QSOX2 169714 genome.wustl.edu GRCh37 9 139103240 139103240 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000358701.5:c.1419C>A p.Phe473Leu p.F473L ENST00000358701 NM_181701.3 473 ttC/ttA 0 Missense_Mutation G 33 QSOX2 SNP 9 G T 138243061 138243061 WashU TBXAS1 6916 genome.wustl.edu GRCh37 7 139653250 139653250 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000416849.2:c.675C>G p.Ile225Met p.I225M ENST00000416849 NM_001166253.1 225 atC/atG 0 Missense_Mutation C 30 TBXAS1 SNP 7 C G 139299719 139299719 WashU PCDHGA5 56110 genome.wustl.edu GRCh37 5 140746157 140746157 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000518069.1:c.2260T>G p.Ser754Ala p.S754A ENST00000518069 NM_018918.2 754 Tcc/Gcc 0 Missense_Mutation T 62 PCDHGA5 SNP 5 T G 140726341 140726341 WashU PCDH12 51294 genome.wustl.edu GRCh37 5 141331060 141331060 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000231484.3:c.2976C>T p.Ser992= p.S992= ENST00000231484 NM_016580.3 992 agC/agT 0 Silent G 46 PCDH12 SNP 5 G A 141311244 141311244 WashU KEL 3792 genome.wustl.edu GRCh37 7 142641484 142641484 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355265.2:c.1417G>T p.Ala473Ser p.A473S ENST00000355265 NM_000420.2 473 Gct/Tct 0 Missense_Mutation C 25 KEL SNP 7 C A 142351606 142351606 WashU POLR3C 10623 genome.wustl.edu GRCh37 1 145597525 145597525 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000334163.3:c.1059C>T p.Val353= p.V353= ENST00000334163 NM_006468.6 353 gtC/gtT 0 Silent G 37 POLR3C SNP 1 G A 144308882 144308882 WashU FLG2 388698 genome.wustl.edu GRCh37 1 152325901 152325901 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000388718.5:c.4361A>G p.His1454Arg p.H1454R ENST00000388718 NM_001014342.2 1454 cAt/cGt 0 Missense_Mutation T 51 FLG2 SNP 1 T C 150592525 150592525 WashU GABRE 2564 genome.wustl.edu GRCh37 X 151138159 151138159 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370328.3:c.324T>A p.Pro108= p.P108= ENST00000370328 NM_004961.3 108 ccT/ccA 0 Silent A 11 GABRE SNP 23 A T 150888815 150888815 WashU ZDHHC14 79683 genome.wustl.edu GRCh37 6 158074597 158074597 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359775.5:c.1006C>G p.Gln336Glu p.Q336E ENST00000359775 336 Cag/Gag 0 Missense_Mutation C 25 ZDHHC14 SNP 6 C G 157994585 157994585 WashU LPA 4018 genome.wustl.edu GRCh37 6 161010635 161010635 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000447678.1:c.3897C>A p.Ser1299= p.S1299= ENST00000447678 NM_005577.2 1299 tcC/tcA 0 Silent G 35 LPA SNP 6 G T 160930625 160930625 WashU KCNT2 343450 genome.wustl.edu GRCh37 1 196367692 196367692 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294725.9:c.1294+1G>A p.X432_splice ENST00000294725 0 Splice_Site_SNP C 18 KCNT2 SNP 1 C T 194634315 194634315 WashU NRP2 8828 genome.wustl.edu GRCh37 2 206641109 206641109 + intron_variant Intron SNP C C T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360409.3:c.2440+9567C>T *814* ENST00000360409 NM_003872.2 0 Silent C 20 NRP2 SNP 2 C T 206349354 206349354 WashU SLC11A1 6556 genome.wustl.edu GRCh37 2 219254616 219254616 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000233202.6:c.819C>T p.Arg273= p.R273= ENST00000233202 NM_000578.3 273 cgC/cgT 0 Silent C 26 SLC11A1 SNP 2 C T 218962860 218962860 WashU CAPN10 11132 genome.wustl.edu GRCh37 2 241534125 241534125 + splice_region_variant,synonymous_variant Splice_Region SNP A A G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000391984.2:c.996A>G p.Thr332= p.T332= ENST00000391984 NM_023083.3 332 acA/acG 0 Silent A 7 CAPN10 SNP 2 A G 241182798 241182798 WashU AHCTF1 25909 genome.wustl.edu GRCh37 1 247014367 247014367 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326225.3:c.4968T>A p.Ser1656Arg p.S1656R ENST00000326225 NM_015446.4 1656 agT/agA 0 Missense_Mutation A 6 AHCTF1 SNP 1 A T 245080990 245080990 WashU BRCA2 675 genome.wustl.edu GRCh37 13 32937426 32937441 + frameshift_variant Frame_Shift_Del DEL TGAGCGCAAATATATC TGAGCGCAAATATATC - novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 TGAGCGCAAATATATC TGAGCGCAAATATATC TGAGCGCAAATATATC - TGAGCGCAAATATATC TGAGCGCAAATATATC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380152.3:c.8090_8105del p.Ser2697LysfsTer31 p.S2697Kfs*31 ENST00000380152 2696 tTGAGCGCAAATATATCt/tt 0 Frame_Shift_Del TGAGCGCAAATATATC 63 BRCA2 DEL 13 TGAGCGCAAATATATC - 31835441 31835426 WashU RAB5CP2 genome.wustl.edu GRCh37 5 90772463 90772464 + non_coding_transcript_exon_variant RNA INS - - G novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000505368.1:n.272dup *91* ENST00000505368 0 Splice_Site_Ins - 63 ENSG00000213731 INS 5 - G 90808220 90808219 WashU IGSF9 57549 genome.wustl.edu GRCh37 1 159900062 159900062 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368094.1:c.1981C>T p.Arg661Trp p.R661W ENST00000368094 NM_001135050.1 661 Cgg/Tgg 0 Missense_Mutation G 39 IGSF9 SNP 1 G A 158166686 158166686 WashU YAP1 10413 genome.wustl.edu GRCh37 11 102100666 102100666 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282441.5:c.1510T>A p.Leu504Ile p.L504I ENST00000282441 NM_001130145.2 504 Tta/Ata 0 Missense_Mutation T 60 YAP1 SNP 11 T A 101605876 101605876 WashU FBLN5 10516 genome.wustl.edu GRCh37 14 92347652 92347652 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342058.4:c.973C>G p.Leu325Val p.L325V ENST00000342058 NM_006329.3 325 Ctg/Gtg 0 Missense_Mutation G 33 FBLN5 SNP 14 G C 91417405 91417405 WashU TUBGCP4 27229 genome.wustl.edu GRCh37 15 43668412 43668412 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000564079.1:c.195T>C p.His65= p.H65= ENST00000564079 NM_014444.2 65 caT/caC 0 Silent T 51 TUBGCP4 SNP 15 T C 41455704 41455704 WashU CSPG4 1464 genome.wustl.edu GRCh37 15 75969142 75969142 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308508.5:c.5718C>T p.Phe1906= p.F1906= ENST00000308508 NM_001897.4 1906 ttC/ttT 0 Silent G 37 CSPG4 SNP 15 G A 73756197 73756197 WashU RNF213 57674 genome.wustl.edu GRCh37 17 78320139 78320139 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000582970.1:c.8004G>T p.Lys2668Asn p.K2668N ENST00000582970 NM_001256071.1 2668 aaG/aaT 0 Missense_Mutation G 36 RNF213 SNP 17 G T 75934734 75934734 WashU HR 55806 genome.wustl.edu GRCh37 8 21981313 21981313 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381418.4:c.1764C>T p.Ala588= p.A588= ENST00000381418 NM_005144.4 588 gcC/gcT 0 Silent G 39 HR SNP 8 A A 22037258 22037258 WashU NR6A1 2649 genome.wustl.edu GRCh37 9 127298392 127298392 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1481-01 TCGA-13-1481-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000487099.2:c.844G>T p.Glu282Ter p.E282* ENST00000487099 NM_001489.4 282 Gaa/Taa 0 Nonsense_Mutation C 32 NR6A1 SNP 9 C A 126338213 126338213 WashU KIAA1462 57608 genome.wustl.edu GRCh37 10 30317209 30317210 + frameshift_variant Frame_Shift_Del DEL CT CT - Unknown TCGA-13-1481-01 TCGA-13-1481-10 CT CT CT - CT CT Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000375377.1:c.1867_1868del p.Leu624AlafsTer39 p.L624Afs*39 ENST00000375377 NM_020848.2 623 AGt/t 0 Frame_Shift_Del CT 20 KIAA1462 DEL 10 CT - 30357216 30357215 WashU MKL2 57496 genome.wustl.edu GRCh37 16 14234531 14234542 + inframe_deletion In_Frame_Del DEL CTCAGAGTGAAG CTCAGAGTGAAG - Unknown TCGA-13-1481-01 TCGA-13-1481-10 CTCAGAGTGAAG CTCAGAGTGAAG CTCAGAGTGAAG - CTCAGAGTGAAG CTCAGAGTGAAG Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000318282.5:c.70_81del p.Gln24_Ala27del p.Q24_A27del ENST00000318282 23 cCTCAGAGTGAAGct/cct 0 In_Frame_Del CTCAGAGTGAAG 24 MKL2 DEL 16 CTCAGAGTGAAG - 14142043 14142032 WashU MUC16 94025 genome.wustl.edu GRCh37 19 8993365 8993371 + splice_donor_variant,intron_variant Splice_Site DEL CCGCTCA CCGCTCA - Unknown TCGA-13-1481-01 TCGA-13-1481-10 CCGCTCA CCGCTCA CCGCTCA - CCGCTCA CCGCTCA Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000397910.4:c.41716+2_41716+8del p.X13906_splice ENST00000397910 NM_024690.2 0 Splice_Site_Del CCGCTCA 26 MUC16 DEL 19 CCGCTCA - 8854371 8854365 WashU GCNT2 2651 genome.wustl.edu GRCh37 6 10529538 10529546 + inframe_deletion In_Frame_Del DEL GCGACGGAT GCGACGGAT - Unknown TCGA-13-1481-01 TCGA-13-1481-10 GCGACGGAT GCGACGGAT GCGACGGAT - GCGACGGAT GCGACGGAT Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000379597.3:c.396_404del p.Thr133_Ala135del p.T133_A135del ENST00000379597 132 GCGACGGAT/- 0 In_Frame_Del GCGACGGAT 42 GCNT2 DEL 6 GCGACGGAT - 10637532 10637524 WashU RNF207 388591 broad.mit.edu GRCh37 1 6270446 6270446 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000377939.4:c.890G>T p.Cys297Phe p.C297F ENST00000377939 NM_207396.2 297 tGc/tTc 0 Missense_Mutation G 46 RNF207 SNP 1 G T 6193033 6193033 Broad L1TD1 54596 broad.mit.edu GRCh37 1 62675768 62675768 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000498273.1:c.1322A>G p.Glu441Gly p.E441G ENST00000498273 NM_019079.4 441 gAa/gGa 0 Missense_Mutation A 9 L1TD1 SNP 1 A G 62448356 62448356 Broad CLCA4 22802 broad.mit.edu GRCh37 1 87031502 87031502 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000370563.3:c.753C>T p.Asn251= p.N251= ENST00000370563 NM_012128.3 251 aaC/aaT 0 Silent C 19 CLCA4 SNP 1 C T 86804090 86804090 Broad TRMT13 54482 broad.mit.edu GRCh37 1 100613448 100613448 + splice_acceptor_variant Splice_Site SNP A A C novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000370141.2:c.818-2A>C p.X273_splice ENST00000370141 NM_019083.2 0 Splice_Site_SNP A 7 CCDC76 SNP 1 A C 100386036 100386036 Broad HIST2H2BE 8349 broad.mit.edu GRCh37 1 149857835 149857835 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000369155.2:c.356T>C p.Val119Ala p.V119A ENST00000369155 NM_003528.2 119 gTc/gCc 0 Missense_Mutation A 10 HIST2H2BE SNP 1 A G 148124459 148124459 Broad SCAMP3 10067 broad.mit.edu GRCh37 1 155227416 155227416 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000302631.3:c.550G>A p.Ala184Thr p.A184T ENST00000302631 NM_005698.3 184 Gcc/Acc 0 Missense_Mutation C 27 SCAMP3 SNP 1 C T 153494040 153494040 Broad OR5D16 390144 broad.mit.edu GRCh37 11 55606580 55606580 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000378396.1:c.353C>T p.Ala118Val p.A118V ENST00000378396 NM_001005496.1 118 gCg/gTg 0 Missense_Mutation C 27 OR5D16 SNP 11 C T 55363156 55363156 Broad ANO1 55107 broad.mit.edu GRCh37 11 69972272 69972272 + synonymous_variant Silent SNP A A T novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000355303.5:c.1068A>T p.Gly356= p.G356= ENST00000355303 NM_018043.5 356 ggA/ggT 0 Silent A 12 ANO1 SNP 11 A T 69649920 69649920 Broad SLC37A2 219855 broad.mit.edu GRCh37 11 124954721 124954721 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000308074.4:c.1126A>G p.Met376Val p.M376V ENST00000308074 NM_198277.2 376 Atg/Gtg 0 Missense_Mutation A 12 SLC37A2 SNP 11 A G 124459931 124459931 Broad NTM 50863 broad.mit.edu GRCh37 11 132016219 132016219 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000425719.2:c.211C>T p.Arg71Cys p.R71C ENST00000425719 71 Cgc/Tgc 0 Missense_Mutation C 23 NTM SNP 11 C T 131521429 131521429 Broad PCED1B 91523 broad.mit.edu GRCh37 12 47629840 47629840 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000546455.1:c.994C>T p.Arg332Trp p.R332W ENST00000546455 NM_138371.2 332 Cgg/Tgg 0 Missense_Mutation C 23 FAM113B SNP 12 C T 45916107 45916107 Broad BRCA2 675 broad.mit.edu GRCh37 13 32912553 32912553 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000380152.3:c.4061C>T p.Thr1354Met p.T1354M ENST00000380152 1354 aCg/aTg 0 Missense_Mutation C 19 BRCA2 SNP 13 C T 31810553 31810553 Broad SEC23A 10484 broad.mit.edu GRCh37 14 39565308 39565308 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000307712.6:c.15G>T p.Leu5Phe p.L5F ENST00000307712 NM_006364.2 5 ttG/ttT 0 Missense_Mutation C 21 SEC23A SNP 14 C A 38635059 38635059 Broad DLST 1743 broad.mit.edu GRCh37 14 75367869 75367869 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000334220.4:c.1160A>G p.Asn387Ser p.N387S ENST00000334220 NM_001933.4 387 aAc/aGc 0 Missense_Mutation A 2 DLST SNP 14 A G 74437622 74437622 Broad EVL 51466 broad.mit.edu GRCh37 14 100594935 100594935 + synonymous_variant Silent SNP A A C novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000392920.3:c.567A>C p.Pro189= p.P189= ENST00000392920 NM_016337.2 189 ccA/ccC 0 Silent A 6 EVL SNP 14 A C 99664688 99664688 Broad IGDCC3 9543 broad.mit.edu GRCh37 15 65624385 65624385 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000327987.4:c.1042A>T p.Met348Leu p.M348L ENST00000327987 NM_004884.3 348 Atg/Ttg 0 Missense_Mutation T 51 IGDCC3 SNP 15 T A 63411438 63411438 Broad BLM 641 broad.mit.edu GRCh37 15 91312750 91312750 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000355112.3:c.2489C>T p.Thr830Met p.T830M ENST00000355112 NM_000057.2 830 aCg/aTg 0 Missense_Mutation C 19 BLM SNP 15 C T 89113754 89113754 Broad ZSCAN32 54925 broad.mit.edu GRCh37 16 3434788 3434788 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000304926.3:c.269C>T p.Thr90Ile p.T90I ENST00000304926 NM_017810.2 90 aCc/aTc 0 Missense_Mutation G 44 ZNF434 SNP 16 G A 3374789 3374789 Broad CLEC18B 497190 broad.mit.edu GRCh37 16 74447510 74447510 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000339953.5:c.521C>T p.Ala174Val p.A174V ENST00000339953 NM_001011880.2 174 gCg/gTg 0 Missense_Mutation G 38 CLEC18B SNP 16 G A 73005011 73005011 Broad TP53 7157 broad.mit.edu GRCh37 17 7578406 7578406 + missense_variant Missense_Mutation SNP C C T rs28934578 Unknown TCGA-23-1030-01 TCGA-23-1030-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000269305.4:c.524G>A p.Arg175His p.R175H ENST00000269305 NM_001126112.2 175 cGc/cAc 0 Missense_Mutation C 27 TP53 SNP 17 C T 7519131 7519131 Broad RSAD1 55316 broad.mit.edu GRCh37 17 48560746 48560746 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000258955.2:c.950G>A p.Arg317Gln p.R317Q ENST00000258955 NM_018346.1 317 cGg/cAg 0 Missense_Mutation G 39 RSAD1 SNP 17 G A 45915745 45915745 Broad MAP2K2 5605 broad.mit.edu GRCh37 19 4117441 4117441 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000262948.5:c.279C>T p.Pro93= p.P93= ENST00000262948 NM_030662.3 93 ccC/ccT 0 Silent G 35 MAP2K2 SNP 19 G A 4068441 4068441 Broad NAT8B 51471 broad.mit.edu GRCh37 2 73927939 73927939 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000377712.2:n.494C>T *165* ENST00000377712 0 Missense_Mutation G 42 NAT8B SNP 2 G A 73781447 73781447 Broad SOGA1 140710 broad.mit.edu GRCh37 20 35425305 35425305 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000237536.4:c.3462T>C p.Leu1154= p.L1154= ENST00000237536 NM_080627.2 1154 ctT/ctC 0 Silent A 5 C20orf117 SNP 20 A G 34858719 34858719 Broad VGLL4 9686 broad.mit.edu GRCh37 3 11643368 11643368 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000430365.2:c.211G>T p.Glu71Ter p.E71* ENST00000430365 NM_001128219.1 71 Gag/Tag 0 Nonsense_Mutation C 31 VGLL4 SNP 3 C A 11618368 11618368 Broad POMGNT2 84892 broad.mit.edu GRCh37 3 43121736 43121736 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000344697.2:c.1188G>A p.Met396Ile p.M396I ENST00000344697 NM_032806.5 396 atG/atA 0 Missense_Mutation C 29 C3orf39 SNP 3 C T 43096740 43096740 Broad FLNB 2317 broad.mit.edu GRCh37 3 58097923 58097923 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000490882.1:c.2623G>C p.Ala875Pro p.A875P ENST00000490882 NM_001164317.1 875 Gct/Cct 0 Missense_Mutation G 42 FLNB SNP 3 G C 58072963 58072963 Broad TMPRSS7 344805 broad.mit.edu GRCh37 3 111795730 111795730 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000419127.1:c.1585G>C p.Asp529His p.D529H ENST00000419127 NM_001042575.2 529 Gat/Cat 0 Missense_Mutation G 33 TMPRSS7 SNP 3 G C 113278420 113278420 Broad UROC1 131669 broad.mit.edu GRCh37 3 126219626 126219626 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000383579.3:c.1237G>A p.Gly413Ser p.G413S ENST00000383579 NM_001165974.1 413 Ggc/Agc 0 Missense_Mutation C 23 UROC1 SNP 3 C T 127702316 127702316 Broad SLC10A4 201780 broad.mit.edu GRCh37 4 48486145 48486146 + missense_variant Missense_Mutation DNP GG GG AC novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000273861.4:c.567_568delinsAC p.Val190Leu p.V190L ENST00000273861 NM_152679.3 189 ctGGtt/ctACtt 0 Missense_Mutation GG 47 SLC10A4 DNP 4 GG AC 48180903 48180902 Broad AMBN 258 broad.mit.edu GRCh37 4 71472089 71472089 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000322937.6:c.986C>T p.Pro329Leu p.P329L ENST00000322937 NM_016519.5 329 cCg/cTg 0 Missense_Mutation C 23 AMBN SNP 4 C T 71506678 71506678 Broad MAST4 375449 broad.mit.edu GRCh37 5 66448676 66448676 + synonymous_variant Silent SNP A A T novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000403625.2:c.3507A>T p.Thr1169= p.T1169= ENST00000403625 NM_001164664.1 1169 acA/acT 0 Silent A 7 MAST4 SNP 5 A T 66484432 66484432 Broad PCDHGA10 56106 broad.mit.edu GRCh37 5 140793230 140793230 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000398610.2:c.488A>C p.Asp163Ala p.D163A ENST00000398610 NM_018913.2 163 gAt/gCt 0 Missense_Mutation A 12 PCDHGA10 SNP 5 A C 140773414 140773414 Broad HIST1H1T 3010 broad.mit.edu GRCh37 6 26107987 26107987 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000338379.4:c.335G>C p.Ser112Thr p.S112T ENST00000338379 NM_005323.3 112 aGt/aCt 0 Missense_Mutation C 20 HIST1H1T SNP 6 C G 26215966 26215966 Broad HSPA1L 3305 broad.mit.edu GRCh37 6 31779014 31779014 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000375654.4:c.736G>C p.Glu246Gln p.E246Q ENST00000375654 NM_005527.3 246 Gag/Cag 0 Missense_Mutation C 30 HSPA1L SNP 6 C G 31886993 31886993 Broad FHL5 9457 broad.mit.edu GRCh37 6 97051519 97051519 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000326771.2:c.30C>A p.Tyr10Ter p.Y10* ENST00000326771 NM_020482.4 10 taC/taA 0 Nonsense_Mutation C 20 FHL5 SNP 6 C A 97158240 97158240 Broad ALDH8A1 64577 broad.mit.edu GRCh37 6 135239875 135239875 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000265605.2:c.1142T>G p.Ile381Ser p.I381S ENST00000265605 NM_022568.3 381 aTt/aGt 0 Missense_Mutation A 4 ALDH8A1 SNP 6 A C 135281568 135281568 Broad ZNF107 51427 broad.mit.edu GRCh37 7 64166798 64166798 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000395391.1:c.116A>T p.Tyr39Phe p.Y39F ENST00000395391 39 tAt/tTt 0 Missense_Mutation A 16 ZNF107 SNP 7 A T 63804233 63804233 Broad LRRC4 64101 broad.mit.edu GRCh37 7 127670493 127670493 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000249363.3:c.201C>T p.Ser67= p.S67= ENST00000249363 NM_022143.4 67 tcC/tcT 0 Silent G 39 LRRC4 SNP 7 G A 127457729 127457729 Broad NRG1 3084 broad.mit.edu GRCh37 8 32620819 32620819 + intron_variant Intron SNP G G T novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000356819.4:c.1284-447G>T *428* ENST00000356819 NM_013956.3 0 Missense_Mutation G 33 NRG1 SNP 8 G T 32740361 32740361 Broad TG 7038 broad.mit.edu GRCh37 8 134042140 134042140 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000220616.4:c.7111C>T p.Arg2371Ter p.R2371* ENST00000220616 NM_003235.4 2371 Cga/Tga 0 Nonsense_Mutation C 23 TG SNP 8 C T 134111322 134111322 Broad AKNA 80709 broad.mit.edu GRCh37 9 117113181 117113181 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000307564.4:c.3179C>G p.Thr1060Arg p.T1060R ENST00000307564 NM_030767.4 1060 aCa/aGa 0 Missense_Mutation G 48 AKNA SNP 9 G C 116153002 116153002 Broad TOR1A 1861 broad.mit.edu GRCh37 9 132581107 132581107 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000351698.4:c.537C>T p.Leu179= p.L179= ENST00000351698 NM_000113.2 179 ctC/ctT 0 Silent G 45 TOR1A SNP 9 G A 131620928 131620928 Broad TSPAN7 7102 broad.mit.edu GRCh37 X 38530639 38530639 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown x x x ENST00000378482.2:c.280T>A p.Phe94Ile p.F94I ENST00000378482 NM_004615.3 94 Ttt/Att 0 Missense_Mutation T 60 TSPAN7 SNP 23 T A 38415583 38415583 Broad PHRF1 57661 broad.mit.edu GRCh37 11 608503 608514 + inframe_deletion In_Frame_Del DEL GGACGCGCTCTG GGACGCGCTCTG - novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000416188.2:c.3056_3067delGGACGCGCTCTG p.Gly1019_Ser1022del p.G1019_S1022del ENST00000416188 1015 cGGACGCGCTCTGgg/cgg 0 In_Frame_Del GGACGCGCTCTG 39 PHRF1 DEL 11 - GGACGCGCTCTG 598514 598503 Broad SSPO 23145 broad.mit.edu GRCh37 7 149515189 149515189 + non_coding_transcript_variant RNA DEL A A - novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000378016.2:n.11578-2delA *3860* ENST00000378016 0 Frame_Shift_Del A 13 SSPO DEL 7 - A 149146122 149146122 Broad RB1CC1 9821 broad.mit.edu GRCh37 8 53568620 53568622 + inframe_deletion In_Frame_Del DEL CAA CAA - novel Unknown TCGA-23-1030-01 TCGA-23-1030-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000025008.5:c.3767_3769del p.Val1256del p.V1256del ENST00000025008 NM_014781.4 1256 gTTGag/gag 0 In_Frame_Del CAA 29 RB1CC1 DEL 8 - CAA 53731175 53731173 Broad CLCNKB 1188 broad.mit.edu GRCh37 1 16374531 16374531 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1328-01 TCGA-25-1328-10 Unknown Unknown Unknown x x x ENST00000375679.4:c.490G>A p.Gly164Arg p.G164R ENST00000375679 NM_000085.4 164 Ggg/Agg 0 Missense_Mutation G 39 CLCNKB SNP 1 G A 16247118 16247118 Broad WSCD2 9671 broad.mit.edu GRCh37 12 108604032 108604032 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1328-01 TCGA-25-1328-10 Unknown Unknown Unknown x x x ENST00000332082.4:c.632A>C p.Asn211Thr p.N211T ENST00000332082 211 aAc/aCc 0 Missense_Mutation A 2 WSCD2 SNP 12 A C 107128162 107128162 Broad YLPM1 56252 broad.mit.edu GRCh37 14 75230453 75230453 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1328-01 TCGA-25-1328-10 Unknown Unknown Unknown x x x ENST00000325680.7:c.261G>C p.Pro87= p.P87= ENST00000325680 NM_019589.2 87 ccG/ccC 0 Silent G 38 YLPM1 SNP 14 G C 74300206 74300206 Broad MINK1 50488 broad.mit.edu GRCh37 17 4794332 4794332 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-1328-01 TCGA-25-1328-10 Unknown Unknown Unknown x x x ENST00000355280.6:c.1653C>A p.Ile551= p.I551= ENST00000355280 NM_001024937.3 551 atC/atA 0 Silent C 30 MINK1 SNP 17 C A 4735114 4735114 Broad DHX33 56919 broad.mit.edu GRCh37 17 5347810 5347810 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-1328-01 TCGA-25-1328-10 Unknown Unknown Unknown x x x ENST00000225296.3:c.1839C>A p.Ser613= p.S613= ENST00000225296 NM_001199699.1 613 tcC/tcA 0 Silent G 43 DHX33 SNP 17 G T 5288534 5288534 Broad DTNA 1837 broad.mit.edu GRCh37 18 32398188 32398188 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1328-01 TCGA-25-1328-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000598334.1:c.770G>T p.Arg257Leu p.R257L ENST00000598334 NM_001198938.1 257 cGa/cTa 0 Missense_Mutation G 37 DTNA SNP 18 G T 30652186 30652186 Broad CEACAM7 1087 broad.mit.edu GRCh37 19 42187883 42187883 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-25-1328-01 TCGA-25-1328-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000006724.3:c.539G>A p.Trp180Ter p.W180* ENST00000006724 NM_006890.3 180 tGg/tAg 0 Nonsense_Mutation C 21 CEACAM7 SNP 19 C T 46879723 46879723 Broad CEP19 84984 broad.mit.edu GRCh37 3 196434438 196434438 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1328-01 TCGA-25-1328-10 Unknown Unknown Unknown x x x ENST00000409690.3:c.488C>T p.Ser163Leu p.S163L ENST00000409690 NM_032898.3 163 tCa/tTa 0 Missense_Mutation G 45 C3orf34 SNP 3 G A 197918835 197918835 Broad GPR98 84059 broad.mit.edu GRCh37 5 90072282 90072282 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1328-01 TCGA-25-1328-10 Unknown Unknown Unknown x x x ENST00000405460.2:c.12416T>A p.Ile4139Lys p.I4139K ENST00000405460 NM_032119.3 4139 aTa/aAa 0 Missense_Mutation T 49 GPR98 SNP 5 T A 90108038 90108038 Broad PCDHB10 56126 broad.mit.edu GRCh37 5 140573165 140573165 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1328-01 TCGA-25-1328-10 Unknown Unknown Unknown x x x ENST00000239446.4:c.1040T>A p.Leu347Gln p.L347Q ENST00000239446 NM_018930.3 347 cTg/cAg 0 Missense_Mutation T 55 PCDHB10 SNP 5 T A 140553349 140553349 Broad DNAH11 8701 broad.mit.edu GRCh37 7 21882244 21882244 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1328-01 TCGA-25-1328-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000328843.6:c.10795T>C p.Tyr3599His p.Y3599H ENST00000328843 3599 Tat/Cat 0 Missense_Mutation T 53 DNAH11 SNP 7 T C 21848769 21848769 Broad TAS2R16 50833 broad.mit.edu GRCh37 7 122634817 122634817 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1328-01 TCGA-25-1328-10 Unknown Unknown Unknown x x x ENST00000249284.2:c.872G>A p.Cys291Tyr p.C291Y ENST00000249284 NM_016945.2 291 tGc/tAc 0 Missense_Mutation C 25 TAS2R16 SNP 7 C T 122422053 122422053 Broad TBC1D25 4943 broad.mit.edu GRCh37 X 48417294 48417294 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1328-01 TCGA-25-1328-10 Unknown Unknown Unknown x x x ENST00000376771.4:c.398T>C p.Leu133Pro p.L133P ENST00000376771 NM_002536.2 133 cTa/cCa 0 Missense_Mutation T 53 TBC1D25 SNP 23 T C 48302238 48302238 Broad NSUN2 54888 genome.wustl.edu GRCh37 5 6600248 6600248 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264670.6:c.2095C>T p.Leu699Phe p.L699F ENST00000264670 NM_017755.5 699 Ctc/Ttc 0 Missense_Mutation G 33 NSUN2 SNP 5 G A 6653248 6653248 WashU CD163L1 283316 genome.wustl.edu GRCh37 12 7586119 7586119 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313599.3:c.296G>A p.Arg99His p.R99H ENST00000313599 99 cGt/cAt 0 Missense_Mutation C 19 CD163L1 SNP 12 T T 7477386 7477386 WashU TP53 7157 genome.wustl.edu GRCh37 17 7579311 7579311 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.375+1G>T p.X125_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 18 TP53 SNP 17 A A 7520036 7520036 WashU GRM7 2917 genome.wustl.edu GRCh37 3 7620692 7620692 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357716.4:c.2099C>T p.Thr700Ile p.T700I ENST00000357716 NM_000844.3 700 aCa/aTa 0 Missense_Mutation C 17 GRM7 SNP 3 C T 7595692 7595692 WashU TAS2R1 50834 genome.wustl.edu GRCh37 5 9629459 9629459 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382492.2:c.686C>G p.Ser229Cys p.S229C ENST00000382492 NM_019599.2 229 tCt/tGt 0 Missense_Mutation G 33 TAS2R1 SNP 5 G C 9682459 9682459 WashU GLRA2 2742 genome.wustl.edu GRCh37 X 14627259 14627259 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000218075.4:c.862G>A p.Ala288Thr p.A288T ENST00000218075 NM_002063.3 288 Gca/Aca 0 Missense_Mutation G 38 GLRA2 SNP 23 G A 14537180 14537180 WashU ITGA8 8516 genome.wustl.edu GRCh37 10 15600155 15600155 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378076.3:c.2684G>A p.Arg895Gln p.R895Q ENST00000378076 NM_003638.1 895 cGa/cAa 0 Missense_Mutation C 31 ITGA8 SNP 10 C T 15640161 15640161 WashU NDE1 54820 genome.wustl.edu GRCh37 16 15790642 15790642 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396355.1:c.872C>A p.Ser291Tyr p.S291Y ENST00000396355 NM_001143979.1 291 tCt/tAt 0 Missense_Mutation C 32 NDE1 SNP 16 C A 15698143 15698143 WashU ABCC1 4363 genome.wustl.edu GRCh37 16 16208679 16208679 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399410.3:c.3136C>T p.Arg1046Cys p.R1046C ENST00000399410 NM_004996.3 1046 Cgc/Tgc 0 Missense_Mutation C 23 ABCC1 SNP 16 C T 16116180 16116180 WashU ATP13A2 23400 genome.wustl.edu GRCh37 1 17331268 17331268 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326735.8:c.396G>T p.Ala132= p.A132= ENST00000326735 132 gcG/gcT 0 Silent C 23 ATP13A2 SNP 1 C A 17203855 17203855 WashU STAM 8027 genome.wustl.edu GRCh37 10 17730081 17730081 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377524.3:c.353A>G p.Glu118Gly p.E118G ENST00000377524 NM_003473.3 118 gAa/gGa 0 Missense_Mutation A 9 STAM SNP 10 A G 17770087 17770087 WashU DTD1 92675 genome.wustl.edu GRCh37 20 18724892 18724892 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377452.3:c.626C>G p.Pro209Arg p.P209R ENST00000377452 NM_080820.4 209 cCg/cGg 0 Missense_Mutation C 23 DTD1 SNP 20 C G 18672892 18672892 WashU POLA1 5422 genome.wustl.edu GRCh37 X 24732734 24732734 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379059.3:c.392C>T p.Pro131Leu p.P131L ENST00000379059 NM_016937.3 131 cCg/cTg 0 Missense_Mutation C 23 POLA1 SNP 23 C T 24642655 24642655 WashU KCNE1 3753 genome.wustl.edu GRCh37 21 35821847 35821847 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337385.3:c.86G>A p.Gly29Asp p.G29D ENST00000337385 NM_001270403.1 29 gGc/gAc 0 Missense_Mutation C 26 KCNE1 SNP 21 C T 34743717 34743717 WashU UGT3A2 167127 genome.wustl.edu GRCh37 5 36035970 36035970 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282507.3:c.1402G>A p.Ala468Thr p.A468T ENST00000282507 NM_174914.3 468 Gcg/Acg 0 Missense_Mutation C 27 UGT3A2 SNP 5 C T 36071727 36071727 WashU CDKN1A 1026 genome.wustl.edu GRCh37 6 36652297 36652297 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244741.5:c.419G>A p.Arg140Gln p.R140Q ENST00000244741 NM_000389.4 140 cGa/cAa 0 Missense_Mutation G 37 CDKN1A SNP 6 G A 36760275 36760275 WashU FAM83D 81610 genome.wustl.edu GRCh37 20 37580235 37580235 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000217429.4:c.920G>T p.Gly307Val p.G307V ENST00000217429 NM_030919.2 307 gGc/gTc 0 Missense_Mutation G 42 FAM83D SNP 20 G T 37013649 37013649 WashU CSNK1E 1454 genome.wustl.edu GRCh37 22 38696778 38696778 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396832.1:c.516C>A p.Asn172Lys p.N172K ENST00000396832 NM_152221.2 172 aaC/aaA 0 Missense_Mutation G 44 CSNK1E SNP 22 T T 37026724 37026724 WashU SUGCT 79783 genome.wustl.edu GRCh37 7 40314151 40314151 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000309930.5:c.637C>T p.Leu213Phe p.L213F ENST00000309930 NM_024728.2 213 Ctt/Ttt 0 Missense_Mutation C 32 C7orf10 SNP 7 C T 40280676 40280676 WashU LRFN2 57497 genome.wustl.edu GRCh37 6 40360302 40360302 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338305.6:c.1750C>G p.Pro584Ala p.P584A ENST00000338305 NM_020737.1 584 Cca/Gca 0 Missense_Mutation G 42 LRFN2 SNP 6 G C 40468280 40468280 WashU ZKSCAN7 55888 genome.wustl.edu GRCh37 3 44612517 44612517 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273320.3:c.1915G>T p.Glu639Ter p.E639* ENST00000273320 NM_018651.2 639 Gag/Tag 0 Nonsense_Mutation G 45 ZNF167 SNP 3 G T 44587521 44587521 WashU GABRA2 2555 genome.wustl.edu GRCh37 4 46305476 46305476 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000510861.1:c.856+1G>T p.X286_splice ENST00000510861 0 Splice_Site_SNP C 18 GABRA2 SNP 4 C A 46000233 46000233 WashU YBEY 54059 genome.wustl.edu GRCh37 21 47711315 47711315 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329319.3:c.278T>C p.Leu93Pro p.L93P ENST00000329319 NM_058181.1 93 cTa/cCa 0 Missense_Mutation T 53 C21orf57 SNP 21 T C 46535743 46535743 WashU SNTG1 54212 genome.wustl.edu GRCh37 8 51705269 51705269 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000522124.1:c.1434C>A p.Cys478Ter p.C478* ENST00000522124 NM_018967.2 478 tgC/tgA 0 Nonsense_Mutation C 25 SNTG1 SNP 8 C A 51867822 51867822 WashU MLIP 90523 genome.wustl.edu GRCh37 6 54122124 54122124 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274897.5:c.1336G>A p.Ala446Thr p.A446T ENST00000274897 NM_138569.2 446 Gct/Act 0 Missense_Mutation G 42 C6orf142 SNP 6 G A 54230083 54230083 WashU ERC2 26059 genome.wustl.edu GRCh37 3 56330282 56330282 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000288221.6:c.839T>A p.Leu280Ter p.L280* ENST00000288221 NM_015576.1 280 tTg/tAg 0 Nonsense_Mutation A 5 ERC2 SNP 3 A T 56305322 56305322 WashU FAM217B 63939 genome.wustl.edu GRCh37 20 58519911 58519911 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358293.3:c.913C>T p.Arg305Cys p.R305C ENST00000358293 NM_001190826.1 305 Cgc/Tgc 0 Missense_Mutation C 27 C20orf177 SNP 20 C T 57953306 57953306 WashU OR4D11 219986 genome.wustl.edu GRCh37 11 59271585 59271585 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313253.1:c.537C>T p.Cys179= p.C179= ENST00000313253 NM_001004706.1 179 tgC/tgT 0 Silent C 27 OR4D11 SNP 11 C T 59028161 59028161 WashU LAIR1 3903 genome.wustl.edu GRCh37 19 54867979 54867979 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000391742.2:c.612G>C p.Gln204His p.Q204H ENST00000391742 204 caG/caC 0 Missense_Mutation C 32 LAIR1 SNP 19 G G 59559791 59559791 WashU LARP1BP1 genome.wustl.edu GRCh37 4 64216511 64216511 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000506036.1:n.680G>A *227* ENST00000506036 0 Missense_Mutation G 33 LOC644578 SNP 4 A A 63899106 63899106 WashU SGK3 23678 genome.wustl.edu GRCh37 8 67743527 67743527 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396596.1:c.506G>C p.Gly169Ala p.G169A ENST00000396596 NM_013257.4 169 gGa/gCa 0 Missense_Mutation G 41 SGK3 SNP 8 G C 67906081 67906081 WashU WBSCR17 64409 genome.wustl.edu GRCh37 7 71134989 71134989 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333538.5:c.1299A>C p.Glu433Asp p.E433D ENST00000333538 NM_022479.2 433 gaA/gaC 0 Missense_Mutation A 1 WBSCR17 SNP 7 A C 70772925 70772925 WashU CABS1 85438 genome.wustl.edu GRCh37 4 71201244 71201244 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273936.5:c.488C>G p.Ser163Cys p.S163C ENST00000273936 NM_033122.3 163 tCt/tGt 0 Missense_Mutation C 32 C4orf35 SNP 4 C G 71235833 71235833 WashU P2RY2 5029 genome.wustl.edu GRCh37 11 72945583 72945583 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311131.2:c.379A>T p.Ile127Phe p.I127F ENST00000311131 NM_176072.2 127 Atc/Ttc 0 Missense_Mutation A 8 P2RY2 SNP 11 A T 72623231 72623231 WashU MYCBP2 23077 genome.wustl.edu GRCh37 13 77740565 77740565 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000544440.2:c.6125G>C p.Gly2042Ala p.G2042A ENST00000544440 2042 gGa/gCa 0 Missense_Mutation C 30 MYCBP2 SNP 13 G G 76638566 76638566 WashU ANGPTL5 253935 genome.wustl.edu GRCh37 11 101773368 101773368 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334289.3:c.524C>T p.Ser175Phe p.S175F ENST00000334289 NM_178127.4 175 tCt/tTt 0 Missense_Mutation G 33 ANGPTL5 SNP 11 G A 101278578 101278578 WashU SLC41A2 84102 genome.wustl.edu GRCh37 12 105321786 105321786 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258538.3:c.520A>G p.Thr174Ala p.T174A ENST00000258538 NM_032148.3 174 Aca/Gca 0 Missense_Mutation T 60 SLC41A2 SNP 12 T C 103845916 103845916 WashU ADCY5 111 genome.wustl.edu GRCh37 3 123010123 123010123 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000462833.1:c.3164G>A p.Arg1055His p.R1055H ENST00000462833 NM_183357.2 1055 cGc/cAc 0 Missense_Mutation C 27 ADCY5 SNP 3 C T 124492813 124492813 WashU MEGF10 84466 genome.wustl.edu GRCh37 5 126792970 126792970 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274473.6:c.3383G>C p.Ser1128Thr p.S1128T ENST00000274473 NM_032446.2 1128 aGt/aCt 0 Missense_Mutation G 36 MEGF10 SNP 5 G C 126820869 126820869 WashU ACTRT1 139741 genome.wustl.edu GRCh37 X 127185238 127185238 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371124.3:c.948G>C p.Lys316Asn p.K316N ENST00000371124 NM_138289.3 316 aaG/aaC 0 Missense_Mutation C 24 ACTRT1 SNP 23 C G 127012919 127012919 WashU ADAM12 8038 genome.wustl.edu GRCh37 10 127843850 127843850 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368679.4:c.285G>A p.Thr95= p.T95= ENST00000368679 NM_003474.4 95 acG/acA 0 Silent C 23 ADAM12 SNP 10 C T 127833840 127833840 WashU PCDHGB6 56100 genome.wustl.edu GRCh37 5 140789113 140789113 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000520790.1:c.1344C>T p.Asn448= p.N448= ENST00000520790 NM_018926.2 448 aaC/aaT 0 Silent C 19 PCDHGB6 SNP 5 C T 140769297 140769297 WashU PCOLCE2 26577 genome.wustl.edu GRCh37 3 142561848 142561848 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295992.3:c.491C>A p.Ser164Tyr p.S164Y ENST00000295992 NM_013363.3 164 tCt/tAt 0 Missense_Mutation G 33 PCOLCE2 SNP 3 G T 144044538 144044538 WashU FLG2 388698 genome.wustl.edu GRCh37 1 152326906 152326906 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000388718.5:c.3356G>T p.Gly1119Val p.G1119V ENST00000388718 NM_001014342.2 1119 gGa/gTa 0 Missense_Mutation C 30 FLG2 SNP 1 C A 150593530 150593530 WashU KMT2C 58508 genome.wustl.edu GRCh37 7 151860622 151860622 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262189.6:c.10040A>G p.Asn3347Ser p.N3347S ENST00000262189 NM_170606.2 3347 aAt/aGt 0 Missense_Mutation T 52 MLL3 SNP 7 T C 151491555 151491555 WashU MED12L 116931 genome.wustl.edu GRCh37 3 151130982 151130982 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000474524.1:c.6091G>T p.Val2031Leu p.V2031L ENST00000474524 NM_053002.4 2031 Gtg/Ttg 0 Missense_Mutation G 48 MED12L SNP 3 G T 152613672 152613672 WashU TTN 7273 genome.wustl.edu GRCh37 2 179472248 179472248 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.53167G>A p.Val17723Ile p.V17723I ENST00000589042 NM_001267550.1 17723 Gtt/Att 0 Missense_Mutation C 19 TTN SNP 2 C T 179180493 179180493 WashU CACNA1E 777 genome.wustl.edu GRCh37 1 181767517 181767517 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367573.2:c.6489G>T p.Pro2163= p.P2163= ENST00000367573 NM_001205293.1 2163 ccG/ccT 0 Silent G 38 CACNA1E SNP 1 G T 180034140 180034140 WashU RAB7L1 8934 genome.wustl.edu GRCh37 1 205740628 205740628 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367139.3:c.350C>T p.Pro117Leu p.P117L ENST00000367139 NM_003929.2 117 cCg/cTg 0 Missense_Mutation G 39 RAB7L1 SNP 1 G A 204007251 204007251 WashU CENPF 1063 genome.wustl.edu GRCh37 1 214795474 214795474 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366955.3:c.918A>G p.Lys306= p.K306= ENST00000366955 NM_016343.3 306 aaA/aaG 0 Silent A 3 CENPF SNP 1 A G 212862097 212862097 WashU ADAMTSL4 54507 genome.wustl.edu GRCh37 1 150528034 150528034 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000271643.4:c.1364G>A p.Arg455His p.R455H ENST00000271643 NM_019032.4 455 cGc/cAc 0 Missense_Mutation G 38 ADAMTSL4 SNP 1 G A 148794658 148794658 WashU RP11-454P7.1 genome.wustl.edu GRCh37 18 15271452 15271452 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000545779.2:n.1505G>A *502* ENST00000545779 0 Silent G 33 ENSG00000184624 SNP 18 G A 15261452 15261452 WashU MORC1 27136 genome.wustl.edu GRCh37 3 108773723 108773723 + synonymous_variant Silent SNP G G A Unknown TCGA-13-1403-01 TCGA-13-1403-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000232603.5:c.1182C>T p.Gly394= p.G394= ENST00000232603 NM_014429.3 394 ggC/ggT 0 Silent G 38 MORC1 SNP 3 G A 110256413 110256413 WashU PDE6C 5146 genome.wustl.edu GRCh37 10 95385364 95385369 + inframe_deletion In_Frame_Del DEL AGAAGT AGAAGT - Unknown TCGA-13-1403-01 TCGA-13-1403-10 AGAAGT AGAAGT AGAAGT - AGAAGT AGAAGT Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000371447.3:c.900_905del p.Val301_Glu302del p.V301_E302del ENST00000371447 NM_006204.3 299 ggAGAAGTa/gga 0 In_Frame_Del AGAAGT 11 PDE6C DEL 10 AGAAGT - 95375359 95375354 WashU ZMYM4 9202 broad.mit.edu GRCh37 1 35853091 35853091 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000314607.6:c.2149G>A p.Asp717Asn p.D717N ENST00000314607 NM_005095.2 717 Gat/Aat 0 Missense_Mutation G 45 ZMYM4 SNP 1 G A 35625678 35625678 Broad TIE1 7075 broad.mit.edu GRCh37 1 43772594 43772594 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000372476.3:c.568A>T p.Ser190Cys p.S190C ENST00000372476 NM_005424.4 190 Agc/Tgc 0 Missense_Mutation A 11 TIE1 SNP 1 A T 43545181 43545181 Broad CYP4A11 1579 broad.mit.edu GRCh37 1 47402453 47402453 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000310638.4:c.393G>C p.Leu131Phe p.L131F ENST00000310638 NM_000778.3 131 ttG/ttC 0 Missense_Mutation C 25 CYP4A11 SNP 1 C G 47175040 47175040 Broad USP24 23358 broad.mit.edu GRCh37 1 55603309 55603309 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000294383.6:c.3080A>G p.Glu1027Gly p.E1027G ENST00000294383 NM_015306.2 1027 gAa/gGa 0 Missense_Mutation T 62 USP24 SNP 1 T C 55375897 55375897 Broad KANK4 163782 broad.mit.edu GRCh37 1 62740524 62740524 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000371153.4:c.252A>G p.Ala84= p.A84= ENST00000371153 NM_181712.4 84 gcA/gcG 0 Silent T 55 KANK4 SNP 1 T C 62513112 62513112 Broad AP4B1 10717 broad.mit.edu GRCh37 1 114438635 114438635 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000369569.1:c.1536G>T p.Arg512= p.R512= ENST00000369569 NM_001253852.1 512 cgG/cgT 0 Silent C 22 AP4B1 SNP 1 C A 114240158 114240158 Broad SUCO 51430 broad.mit.edu GRCh37 1 172579024 172579024 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000263688.3:c.3390A>G p.Ile1130Met p.I1130M ENST00000263688 NM_014283.3 1130 atA/atG 0 Missense_Mutation A 15 C1orf9 SNP 1 A G 170845647 170845647 Broad KIAA1614 57710 broad.mit.edu GRCh37 1 180913547 180913547 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000367588.4:c.3182G>T p.Arg1061Leu p.R1061L ENST00000367588 NM_020950.1 1061 cGg/cTg 0 Missense_Mutation G 39 KIAA1614 SNP 1 G T 179180170 179180170 Broad C10orf71 118461 broad.mit.edu GRCh37 10 50530959 50530959 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000374144.3:c.369G>A p.Gln123= p.Q123= ENST00000374144 123 caG/caA 0 Silent G 33 C10orf71 SNP 10 G A 50200965 50200965 Broad ZSWIM8 23053 broad.mit.edu GRCh37 10 75556628 75556628 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000398706.2:c.3130A>T p.Arg1044Trp p.R1044W ENST00000398706 NM_015037.3 1044 Agg/Tgg 0 Missense_Mutation A 11 KIAA0913 SNP 10 A T 75226634 75226634 Broad SORCS3 22986 broad.mit.edu GRCh37 10 107022106 107022106 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000369701.3:c.3461A>T p.Asn1154Ile p.N1154I ENST00000369701 NM_014978.1 1154 aAc/aTc 0 Missense_Mutation A 2 SORCS3 SNP 10 A T 107012096 107012096 Broad PRLHR 2834 broad.mit.edu GRCh37 10 120353894 120353894 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000239032.2:c.863C>A p.Ala288Asp p.A288D ENST00000239032 NM_004248.2 288 gCc/gAc 0 Missense_Mutation G 42 PRLHR SNP 10 G T 120343884 120343884 Broad CACUL1 143384 broad.mit.edu GRCh37 10 120514067 120514067 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000369151.3:c.208C>G p.Pro70Ala p.P70A ENST00000369151 NM_153810.4 70 Ccc/Gcc 0 Missense_Mutation G 43 C10orf46 SNP 10 G C 120504057 120504057 Broad FAM53B 9679 broad.mit.edu GRCh37 10 126370335 126370335 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000337318.3:c.747A>C p.Thr249= p.T249= ENST00000337318 NM_014661.3 249 acA/acC 0 Silent T 59 FAM53B SNP 10 T G 126360325 126360325 Broad PSMD13 5719 broad.mit.edu GRCh37 11 247370 247370 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000431206.2:c.496C>G p.Gln166Glu p.Q166E ENST00000431206 NM_175932.2 166 Caa/Gaa 0 Missense_Mutation C 29 PSMD13 SNP 11 C G 237370 237370 Broad OR52A4 390053 broad.mit.edu GRCh37 11 5142506 5142506 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000498233.1:n.893C>G *298* ENST00000498233 0 Missense_Mutation G 42 OR52A4 SNP 11 G C 5099082 5099082 Broad SLC35C1 55343 broad.mit.edu GRCh37 11 45827584 45827584 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000314134.3:c.232T>G p.Phe78Val p.F78V ENST00000314134 NM_018389.4 78 Ttc/Gtc 0 Missense_Mutation T 56 SLC35C1 SNP 11 T G 45784160 45784160 Broad OR4A47 403253 broad.mit.edu GRCh37 11 48510886 48510886 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000446524.1:c.542C>T p.Pro181Leu p.P181L ENST00000446524 NM_001005512.2 181 cCc/cTc 0 Missense_Mutation C 22 OR4A47 SNP 11 C T 48467462 48467462 Broad C11orf57 55216 broad.mit.edu GRCh37 11 111953638 111953638 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000393047.3:c.824G>A p.Arg275His p.R275H ENST00000393047 275 cGc/cAc 0 Missense_Mutation G 38 C11orf57 SNP 11 G A 111458848 111458848 Broad NXPE4 54827 broad.mit.edu GRCh37 11 114453017 114453017 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000375478.3:c.823T>C p.Phe275Leu p.F275L ENST00000375478 NM_001077639.1 275 Ttt/Ctt 0 Missense_Mutation A 3 FAM55D SNP 11 A G 113958227 113958227 Broad CHD4 1108 broad.mit.edu GRCh37 12 6707105 6707105 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000357008.2:c.1847G>A p.Gly616Glu p.G616E ENST00000357008 NM_001273.2 616 gGg/gAg 0 Missense_Mutation C 22 CHD4 SNP 12 C T 6577366 6577366 Broad TAS2R46 259292 broad.mit.edu GRCh37 12 11214529 11214529 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000533467.1:c.365A>G p.Lys122Arg p.K122R ENST00000533467 NM_176887.2 122 aAg/aGg 0 Missense_Mutation T 56 TAS2R46 SNP 12 T C 11105796 11105796 Broad SOX5 6660 broad.mit.edu GRCh37 12 23757376 23757376 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000451604.2:c.1109C>T p.Ser370Phe p.S370F ENST00000451604 370 tCt/tTt 0 Missense_Mutation G 33 SOX5 SNP 12 G A 23648643 23648643 Broad ALG10B 144245 broad.mit.edu GRCh37 12 38714238 38714238 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000308742.4:c.645G>T p.Lys215Asn p.K215N ENST00000308742 NM_001013620.3 215 aaG/aaT 0 Missense_Mutation G 33 ALG10B SNP 12 G T 37000505 37000505 Broad POU6F1 5463 broad.mit.edu GRCh37 12 51584194 51584194 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000389243.4:c.742G>T p.Ala248Ser p.A248S ENST00000389243 248 Gct/Tct 0 Missense_Mutation C 26 POU6F1 SNP 12 C A 49870461 49870461 Broad SLC4A8 9498 broad.mit.edu GRCh37 12 51868222 51868222 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000453097.2:c.2001G>T p.Leu667= p.L667= ENST00000453097 NM_001039960.2 667 ctG/ctT 0 Silent G 45 SLC4A8 SNP 12 G T 50154489 50154489 Broad ZNF385A 25946 broad.mit.edu GRCh37 12 54765326 54765326 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000338010.5:c.595C>T p.Arg199Trp p.R199W ENST00000338010 NM_001130967.1 199 Cgg/Tgg 0 Missense_Mutation G 38 ZNF385A SNP 12 G A 53051593 53051593 Broad TAC3 6866 broad.mit.edu GRCh37 12 57407449 57407449 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000458521.2:c.121C>A p.Pro41Thr p.P41T ENST00000458521 NM_013251.3 41 Cca/Aca 0 Missense_Mutation G 41 TAC3 SNP 12 G T 55693716 55693716 Broad LRP1 4035 broad.mit.edu GRCh37 12 57587774 57587774 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000243077.3:c.7897G>A p.Ala2633Thr p.A2633T ENST00000243077 NM_002332.2 2633 Gcc/Acc 0 Missense_Mutation G 38 LRP1 SNP 12 G A 55874041 55874041 Broad TRPV4 59341 broad.mit.edu GRCh37 12 110240898 110240898 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000418703.2:c.610A>T p.Asn204Tyr p.N204Y ENST00000418703 NM_001177431.1 204 Aat/Tat 0 Missense_Mutation T 63 TRPV4 SNP 12 T A 108725281 108725281 Broad ACAD10 80724 broad.mit.edu GRCh37 12 112147427 112147427 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000455480.2:c.629T>G p.Phe210Cys p.F210C ENST00000455480 NM_001136538.1 210 tTt/tGt 0 Missense_Mutation T 64 ACAD10 SNP 12 T G 110631810 110631810 Broad TM9SF2 9375 broad.mit.edu GRCh37 13 100207864 100207864 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000376387.4:c.1715C>T p.Ala572Val p.A572V ENST00000376387 NM_004800.2 572 gCa/gTa 0 Missense_Mutation C 25 TM9SF2 SNP 13 C T 99005865 99005865 Broad ZFP36L1 677 broad.mit.edu GRCh37 14 69262890 69262890 + upstream_gene_variant 5'Flank SNP G G C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000439696 NM_004926.3 0 Missense_Mutation G 47 C14orf181 SNP 14 G C 68332643 68332643 Broad PNMA1 9240 broad.mit.edu GRCh37 14 74179405 74179405 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000316836.3:c.938C>A p.Ala313Asp p.A313D ENST00000316836 NM_006029.4 313 gCt/gAt 0 Missense_Mutation G 34 PNMA1 SNP 14 G T 73249158 73249158 Broad PTPN21 11099 broad.mit.edu GRCh37 14 88946519 88946519 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000556564.1:c.1256C>A p.Pro419His p.P419H ENST00000556564 NM_007039.3 419 cCt/cAt 0 Missense_Mutation G 35 PTPN21 SNP 14 G T 88016272 88016272 Broad DISP2 85455 broad.mit.edu GRCh37 15 40661149 40661149 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000267889.3:c.2836T>C p.Trp946Arg p.W946R ENST00000267889 NM_033510.1 946 Tgg/Cgg 0 Missense_Mutation T 63 DISP2 SNP 15 T C 38448441 38448441 Broad LDHAL6B 92483 broad.mit.edu GRCh37 15 59499805 59499805 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000307144.4:c.666G>C p.Leu222Phe p.L222F ENST00000307144 NM_033195.2 222 ttG/ttC 0 Missense_Mutation G 45 LDHAL6B SNP 15 G C 57287097 57287097 Broad LCTL 197021 broad.mit.edu GRCh37 15 66850069 66850069 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000341509.5:c.913G>A p.Asp305Asn p.D305N ENST00000341509 NM_207338.3 305 Gac/Aac 0 Missense_Mutation C 30 LCTL SNP 15 C T 64637123 64637123 Broad HYDIN 54768 broad.mit.edu GRCh37 16 71026023 71026023 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000393567.2:c.3735A>G p.Ala1245= p.A1245= ENST00000393567 NM_001270974.1 1245 gcA/gcG 0 Silent T 63 HYDIN SNP 16 T C 69583524 69583524 Broad CHST6 4166 broad.mit.edu GRCh37 16 75512981 75512981 + missense_variant Missense_Mutation SNP T T A rs72547540 Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000332272.4:c.746A>T p.His249Leu p.H249L ENST00000332272 NM_021615.4 249 cAc/cTc 0 Missense_Mutation T 59 CHST6 SNP 16 T A 74070482 74070482 Broad SPNS3 201305 broad.mit.edu GRCh37 17 4337372 4337373 + missense_variant Missense_Mutation DNP GG GG TT novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000355530.2:c.110_111delinsTT p.Trp37Phe p.W37F ENST00000355530 NM_182538.4 37 tGG/tTT 0 Missense_Mutation GG 47 SPNS3 DNP 17 GG TT 4284122 4284121 Broad TP53 7157 broad.mit.edu GRCh37 17 7577539 7577539 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.742C>T p.Arg248Trp p.R248W ENST00000269305 NM_001126112.2 248 Cgg/Tgg 0 Missense_Mutation G 39 TP53 SNP 17 G A 7518264 7518264 Broad GGNBP2 79893 broad.mit.edu GRCh37 17 34913149 34913149 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000304718.4:c.401A>T p.Lys134Met p.K134M ENST00000304718 NM_024835.4 134 aAg/aTg 0 Missense_Mutation A 3 GGNBP2 SNP 17 A T 31987262 31987262 Broad NDC80 10403 broad.mit.edu GRCh37 18 2608740 2608740 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000261597.4:c.1599G>A p.Glu533= p.E533= ENST00000261597 NM_006101.2 533 gaG/gaA 0 Silent G 36 NDC80 SNP 18 G A 2598740 2598740 Broad EPB41L3 23136 broad.mit.edu GRCh37 18 5397143 5397143 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000341928.2:c.2755A>G p.Thr919Ala p.T919A ENST00000341928 NM_012307.3 919 Aca/Gca 0 Missense_Mutation T 58 EPB41L3 SNP 18 T C 5387143 5387143 Broad LAMA3 3909 broad.mit.edu GRCh37 18 21485530 21485530 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000313654.9:c.6660T>A p.Ser2220Arg p.S2220R ENST00000313654 NM_198129.1 2220 agT/agA 0 Missense_Mutation T 60 LAMA3 SNP 18 T A 19739528 19739528 Broad TRAPPC8 22878 broad.mit.edu GRCh37 18 29432581 29432581 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000283351.4:c.3479C>G p.Ala1160Gly p.A1160G ENST00000283351 NM_014939.3 1160 gCa/gGa 0 Missense_Mutation G 46 TRAPPC8 SNP 18 G C 27686579 27686579 Broad FBXO15 201456 broad.mit.edu GRCh37 18 71793283 71793283 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000419743.2:c.839C>G p.Ser280Cys p.S280C ENST00000419743 NM_001142958.1 280 tCt/tGt 0 Missense_Mutation G 33 FBXO15 SNP 18 G C 69944263 69944263 Broad DIRAS1 148252 broad.mit.edu GRCh37 19 2717666 2717666 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000323469.4:c.139G>A p.Val47Met p.V47M ENST00000323469 NM_145173.3 47 Gtg/Atg 0 Missense_Mutation C 18 DIRAS1 SNP 19 C T 2668666 2668666 Broad TNFSF9 8744 broad.mit.edu GRCh37 19 6534682 6534682 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000245817.3:c.370C>G p.Leu124Val p.L124V ENST00000245817 NM_003811.3 124 Ctg/Gtg 0 Missense_Mutation C 24 TNFSF9 SNP 19 C G 6485682 6485682 Broad RAB11B 9230 broad.mit.edu GRCh37 19 8467134 8467134 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000328024.6:c.401T>C p.Val134Ala p.V134A ENST00000328024 NM_004218.3 134 gTg/gCg 0 Missense_Mutation T 59 RAB11B SNP 19 T C 8373134 8373134 Broad MUC16 94025 broad.mit.edu GRCh37 19 9011463 9011463 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 C T C C Unknown Valid Somatic x x 454_PCR_WGA x ENST00000397910.4:c.38770G>A p.Asp12924Asn p.D12924N ENST00000397910 NM_024690.2 12924 Gat/Aat 0 Missense_Mutation C 30 MUC16 SNP 19 C T 8872463 8872463 Broad RDH8 50700 broad.mit.edu GRCh37 19 10124252 10124252 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000591589.1:c.139C>G p.His47Asp p.H47D ENST00000591589 47 Cat/Gat 0 Missense_Mutation C 21 RDH8 SNP 19 C G 9985252 9985252 Broad PDCD2L 84306 broad.mit.edu GRCh37 19 34900210 34900210 + missense_variant Missense_Mutation SNP C C G rs61740326 Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000246535.3:c.481C>G p.Arg161Gly p.R161G ENST00000246535 NM_032346.1 161 Cgg/Ggg 0 Missense_Mutation C 31 PDCD2L SNP 19 C G 39592050 39592050 Broad NLRP5 126206 broad.mit.edu GRCh37 19 56569776 56569776 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000390649.3:c.3470G>T p.Gly1157Val p.G1157V ENST00000390649 NM_153447.4 1157 gGg/gTg 0 Missense_Mutation G 43 NLRP5 SNP 19 G T 61261588 61261588 Broad TRAPPC12 51112 broad.mit.edu GRCh37 2 3391550 3391550 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000324266.5:c.156G>A p.Ser52= p.S52= ENST00000324266 NM_016030.5 52 tcG/tcA 0 Silent G 39 TTC15 SNP 2 G A 3370557 3370557 Broad LCLAT1 253558 broad.mit.edu GRCh37 2 30682501 30682501 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000309052.4:c.23T>C p.Ile8Thr p.I8T ENST00000309052 NM_182551.3 8 aTt/aCt 0 Missense_Mutation T 52 LCLAT1 SNP 2 T C 30536005 30536005 Broad SNRNP200 23020 broad.mit.edu GRCh37 2 96965080 96965080 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000323853.5:c.716C>T p.Thr239Ile p.T239I ENST00000323853 NM_014014.4 239 aCc/aTc 0 Missense_Mutation G 44 SNRNP200 SNP 2 G A 96328807 96328807 Broad SEMA4C 54910 broad.mit.edu GRCh37 2 97526942 97526942 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000305476.5:c.1923C>G p.Tyr641Ter p.Y641* ENST00000305476 NM_017789.4 641 taC/taG 0 Nonsense_Mutation G 44 SEMA4C SNP 2 G C 96890669 96890669 Broad PLEKHB2 55041 broad.mit.edu GRCh37 2 131884288 131884288 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000409158.1:c.222C>G p.Asp74Glu p.D74E ENST00000409158 74 gaC/gaG 0 Missense_Mutation C 20 PLEKHB2 SNP 2 C G 131600758 131600758 Broad UBR3 130507 broad.mit.edu GRCh37 2 170871846 170871846 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000418381.1:c.4423G>T p.Ala1475Ser p.A1475S ENST00000418381 NM_172070.3 1475 Gca/Tca 0 Missense_Mutation G 46 UBR3 SNP 2 G T 170580092 170580092 Broad SCRN3 79634 broad.mit.edu GRCh37 2 175269043 175269043 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000272732.6:c.754G>C p.Gly252Arg p.G252R ENST00000272732 NM_024583.4 252 Gga/Cga 0 Missense_Mutation G 35 SCRN3 SNP 2 G C 174977289 174977289 Broad FAM171B 165215 broad.mit.edu GRCh37 2 187558977 187558977 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000304698.5:c.77T>G p.Val26Gly p.V26G ENST00000304698 NM_177454.3 26 gTc/gGc 0 Missense_Mutation T 58 FAM171B SNP 2 T G 187267222 187267222 Broad MDH1B 130752 broad.mit.edu GRCh37 2 207622058 207622058 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000374412.3:c.173G>C p.Ser58Thr p.S58T ENST00000374412 NM_001039845.1 58 aGt/aCt 0 Missense_Mutation C 20 MDH1B SNP 2 C G 207330303 207330303 Broad FASTKD2 22868 broad.mit.edu GRCh37 2 207636671 207636671 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000236980.6:c.1044G>A p.Met348Ile p.M348I ENST00000236980 NM_014929.3 348 atG/atA 0 Missense_Mutation G 48 FASTKD2 SNP 2 G A 207344916 207344916 Broad DNER 92737 broad.mit.edu GRCh37 2 230231640 230231640 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000341772.4:c.2051G>A p.Arg684His p.R684H ENST00000341772 NM_139072.3 684 cGc/cAc 0 Missense_Mutation C 27 DNER SNP 2 C T 229939884 229939884 Broad TRIP12 9320 broad.mit.edu GRCh37 2 230657764 230657764 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000283943.5:c.3841C>G p.Gln1281Glu p.Q1281E ENST00000283943 NM_004238.1 1281 Cag/Gag 0 Missense_Mutation G 46 TRIP12 SNP 2 G C 230366008 230366008 Broad RBM44 375316 broad.mit.edu GRCh37 2 238732966 238732966 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000316997.4:c.2356T>C p.Trp786Arg p.W786R ENST00000316997 NM_001080504.2 786 Tgg/Cgg 0 Missense_Mutation T 55 RBM44 SNP 2 T C 238397705 238397705 Broad GGT7 2686 broad.mit.edu GRCh37 20 33442336 33442336 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000336431.5:c.1317C>T p.Leu439= p.L439= ENST00000336431 NM_178026.2 439 ctC/ctT 0 Silent G 45 GGT7 SNP 20 G A 32905997 32905997 Broad FAM83C 128876 broad.mit.edu GRCh37 20 33874560 33874560 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000374408.3:c.2022C>A p.Thr674= p.T674= ENST00000374408 NM_178468.5 674 acC/acA 0 Silent G 43 FAM83C SNP 20 G T 33337974 33337974 Broad EYA2 2139 broad.mit.edu GRCh37 20 45725729 45725729 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000327619.5:c.810G>C p.Val270= p.V270= ENST00000327619 NM_005244.4 270 gtG/gtC 0 Silent G 48 EYA2 SNP 20 G C 45159136 45159136 Broad SPATA2 9825 broad.mit.edu GRCh37 20 48522209 48522209 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000422556.1:c.1510A>C p.Asn504His p.N504H ENST00000422556 NM_001135773.1 504 Aac/Cac 0 Missense_Mutation T 63 SPATA2 SNP 20 T G 47955616 47955616 Broad DIDO1 11083 broad.mit.edu GRCh37 20 61513697 61513698 + missense_variant Missense_Mutation DNP TT TT GC novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000266070.4:c.3610_3611delinsGC p.Asn1204Ala p.N1204A ENST00000266070 NM_033081.2 1204 AAc/GCc 0 Missense_Mutation TT 60 DIDO1 DNP 20 TT GC 60984143 60984142 Broad TMPRSS15 5651 broad.mit.edu GRCh37 21 19775815 19775815 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000284885.3:c.125C>A p.Thr42Lys p.T42K ENST00000284885 NM_002772.2 42 aCa/aAa 0 Missense_Mutation G 48 TMPRSS15 SNP 21 G T 18697686 18697686 Broad AGPAT3 56894 broad.mit.edu GRCh37 21 45389009 45389009 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000398063.2:c.359T>A p.Val120Asp p.V120D ENST00000398063 NM_001037553.1 120 gTc/gAc 0 Missense_Mutation T 58 AGPAT3 SNP 21 T A 44213437 44213437 Broad ZNF74 7625 broad.mit.edu GRCh37 22 20759703 20759703 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000400451.2:c.380G>A p.Gly127Asp p.G127D ENST00000400451 NM_003426.3 127 gGc/gAc 0 Missense_Mutation G 42 ZNF74 SNP 22 G A 19089703 19089703 Broad WNT7B 7477 broad.mit.edu GRCh37 22 46318830 46318830 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000339464.4:c.956C>A p.Thr319Asn p.T319N ENST00000339464 NM_058238.2 319 aCc/aAc 0 Missense_Mutation G 44 WNT7B SNP 22 G T 44697494 44697494 Broad XPC 7508 broad.mit.edu GRCh37 3 14190213 14190213 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000285021.7:c.2269G>C p.Gly757Arg p.G757R ENST00000285021 NM_004628.4 757 Ggg/Cgg 0 Missense_Mutation C 21 XPC SNP 3 C G 14165214 14165214 Broad CCDC13 152206 broad.mit.edu GRCh37 3 42799682 42799682 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000310232.6:c.156G>T p.Glu52Asp p.E52D ENST00000310232 NM_144719.3 52 gaG/gaT 0 Missense_Mutation C 24 CCDC13 SNP 3 C A 42774686 42774686 Broad ITIH1 3697 broad.mit.edu GRCh37 3 52822248 52822248 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000273283.2:c.2006T>A p.Val669Glu p.V669E ENST00000273283 NM_002215.3 669 gTg/gAg 0 Missense_Mutation T 59 ITIH1 SNP 3 T A 52797288 52797288 Broad ITIH3 3699 broad.mit.edu GRCh37 3 52828859 52828859 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000449956.2:c.40C>T p.Leu14Phe p.L14F ENST00000449956 NM_002217.3 14 Ctc/Ttc 0 Missense_Mutation C 28 ITIH3 SNP 3 C T 52803899 52803899 Broad OR5H1 26341 broad.mit.edu GRCh37 3 97852398 97852398 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000354565.2:c.857A>T p.Asn286Ile p.N286I ENST00000354565 NM_001005338.1 286 aAt/aTt 0 Missense_Mutation A 4 OR5H1 SNP 3 A T 99335088 99335088 Broad UMPS 7372 broad.mit.edu GRCh37 3 124456804 124456804 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000232607.2:c.700C>G p.Pro234Ala p.P234A ENST00000232607 NM_000373.3 234 Ccc/Gcc 0 Missense_Mutation C 26 UMPS SNP 3 C G 125939494 125939494 Broad EFCAB12 90288 broad.mit.edu GRCh37 3 129130174 129130174 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000505956.1:c.862G>A p.Asp288Asn p.D288N ENST00000505956 NM_207307.1 288 Gat/Aat 0 Missense_Mutation C 32 C3orf25 SNP 3 C T 130612864 130612864 Broad IFT122 55764 broad.mit.edu GRCh37 3 129218838 129218838 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000296266.3:c.2455G>T p.Val819Leu p.V819L ENST00000296266 NM_052985.3 819 Gtg/Ttg 0 Missense_Mutation G 40 IFT122 SNP 3 G T 130701528 130701528 Broad SLC33A1 9197 broad.mit.edu GRCh37 3 155560338 155560338 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000392845.3:c.846C>T p.Asn282= p.N282= ENST00000392845 282 aaC/aaT 0 Silent G 40 SLC33A1 SNP 3 G A 157043032 157043032 Broad NRROS 375387 broad.mit.edu GRCh37 3 196388449 196388449 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000328557.4:c.1935G>T p.Arg645= p.R645= ENST00000328557 NM_198565.1 645 cgG/cgT 0 Silent G 42 LRRC33 SNP 3 G T 197872846 197872846 Broad TBC1D1 23216 broad.mit.edu GRCh37 4 38016492 38016492 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000261439.4:c.780C>T p.Phe260= p.F260= ENST00000261439 NM_015173.3 260 ttC/ttT 0 Silent C 32 TBC1D1 SNP 4 C T 37692887 37692887 Broad TBCK 93627 broad.mit.edu GRCh37 4 107133941 107133941 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000273980.5:c.1826G>C p.Ser609Thr p.S609T ENST00000273980 609 aGt/aCt 0 Missense_Mutation C 20 TBCKL SNP 4 C G 107353390 107353390 Broad KIAA1109 84162 broad.mit.edu GRCh37 4 123271114 123271114 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000264501.4:c.13734A>G p.Glu4578= p.E4578= ENST00000264501 4578 gaA/gaG 0 Silent A 4 KIAA1109 SNP 4 A G 123490564 123490564 Broad RWDD4 201965 broad.mit.edu GRCh37 4 184572200 184572200 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000326397.5:c.300G>T p.Leu100Phe p.L100F ENST00000326397 NM_152682.2 100 ttG/ttT 0 Missense_Mutation C 17 RWDD4A SNP 4 C A 184809194 184809194 Broad CARD6 84674 broad.mit.edu GRCh37 5 40843622 40843622 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000254691.5:c.652G>T p.Val218Phe p.V218F ENST00000254691 NM_032587.3 218 Gtt/Ttt 0 Missense_Mutation G 48 CARD6 SNP 5 G T 40879379 40879379 Broad STARD4 134429 broad.mit.edu GRCh37 5 110837699 110837699 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000296632.3:c.243C>A p.Ser81Arg p.S81R ENST00000296632 NM_139164.1 81 agC/agA 0 Missense_Mutation G 34 STARD4 SNP 5 G T 110865598 110865598 Broad ALDH7A1 501 broad.mit.edu GRCh37 5 125887729 125887729 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000409134.3:c.1301A>G p.Tyr434Cys p.Y434C ENST00000409134 NM_001201377.1 434 tAt/tGt 0 Missense_Mutation T 49 ALDH7A1 SNP 5 T C 125915628 125915628 Broad PCDHA2 56146 broad.mit.edu GRCh37 5 140174981 140174981 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000526136.1:c.432A>G p.Glu144= p.E144= ENST00000526136 NM_018905.2 144 gaA/gaG 0 Silent A 4 PCDHA2 SNP 5 A G 140155165 140155165 Broad PCDHB6 56130 broad.mit.edu GRCh37 5 140531482 140531482 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000231136.1:c.1644G>A p.Leu548= p.L548= ENST00000231136 NM_018939.2 548 ctG/ctA 0 Silent G 47 PCDHB6 SNP 5 G A 140511666 140511666 Broad PCDHB16 57717 broad.mit.edu GRCh37 5 140562687 140562688 + missense_variant Missense_Mutation DNP TT TT GA novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000361016.2:c.553_554delinsGA p.Phe185Asp p.F185D ENST00000361016 NM_020957.1 185 TTc/GAc 0 Missense_Mutation TT 52 PCDHB16 DNP 5 TT GA 140542872 140542871 Broad NSD1 64324 broad.mit.edu GRCh37 5 176721628 176721628 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000439151.2:c.7259C>G p.Pro2420Arg p.P2420R ENST00000439151 NM_022455.4 2420 cCt/cGt 0 Missense_Mutation C 24 NSD1 SNP 5 C G 176654234 176654234 Broad CDKAL1 54901 broad.mit.edu GRCh37 6 21065364 21065364 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000274695.4:c.1141G>C p.Val381Leu p.V381L ENST00000274695 NM_017774.3 381 Gtt/Ctt 0 Missense_Mutation G 48 CDKAL1 SNP 6 G C 21173343 21173343 Broad HIST1H3G 8355 broad.mit.edu GRCh37 6 26271472 26271472 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000305910.3:c.141G>A p.Val47= p.V47= ENST00000305910 NM_003534.2 47 gtG/gtA 0 Silent C 21 HIST1H3G SNP 6 C T 26379451 26379451 Broad DHX16 8449 broad.mit.edu GRCh37 6 30632946 30632946 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000376442.3:c.1027G>A p.Ala343Thr p.A343T ENST00000376442 NM_001164239.1 343 Gcc/Acc 0 Missense_Mutation C 26 DHX16 SNP 6 C T 30740925 30740925 Broad CLIC1 1192 broad.mit.edu GRCh37 6 31704066 31704066 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000375780.2:c.12A>G p.Glu4= p.E4= ENST00000375780 NM_001287593.1 4 gaA/gaG 0 Silent T 60 CLIC1 SNP 6 T C 31812045 31812045 Broad FAM83B 222584 broad.mit.edu GRCh37 6 54804999 54804999 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000306858.7:c.1230T>C p.Asn410= p.N410= ENST00000306858 NM_001010872.2 410 aaT/aaC 0 Silent T 49 FAM83B SNP 6 T C 54912958 54912958 Broad FAM83B 222584 broad.mit.edu GRCh37 6 54806238 54806238 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000306858.7:c.2469A>G p.Lys823= p.K823= ENST00000306858 NM_001010872.2 823 aaA/aaG 0 Silent A 3 FAM83B SNP 6 A G 54914197 54914197 Broad IBTK 25998 broad.mit.edu GRCh37 6 82924291 82924291 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000306270.7:c.1857G>T p.Val619= p.V619= ENST00000306270 NM_015525.2 619 gtG/gtT 0 Silent C 21 IBTK SNP 6 C A 82981010 82981010 Broad TPBG 7162 broad.mit.edu GRCh37 6 83075023 83075023 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000369750.3:c.345G>C p.Pro115= p.P115= ENST00000369750 115 ccG/ccC 0 Silent G 38 TPBG SNP 6 G C 83131742 83131742 Broad ZNF292 23036 broad.mit.edu GRCh37 6 87965018 87965018 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000369577.3:c.1671A>G p.Val557= p.V557= ENST00000369577 NM_015021.1 557 gtA/gtG 0 Silent A 14 ZNF292 SNP 6 A G 88021737 88021737 Broad CYCS 54205 broad.mit.edu GRCh37 7 25163377 25163377 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000305786.2:c.261G>A p.Lys87= p.K87= ENST00000305786 NM_018947.5 87 aaG/aaA 0 Silent C 32 CYCS SNP 7 C T 25129902 25129902 Broad EPDR1 54749 broad.mit.edu GRCh37 7 37960520 37960520 + 5_prime_UTR_variant 5'UTR SNP G G C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000199448.4:c.-22G>C *8* ENST00000199448 NM_017549.4 0 Silent G 39 EPDR1 SNP 7 G C 37927045 37927045 Broad URGCP 55665 broad.mit.edu GRCh37 7 43918650 43918650 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000453200.1:c.412G>A p.Val138Met p.V138M ENST00000453200 138 Gtg/Atg 0 Missense_Mutation C 19 URGCP SNP 7 C T 43885175 43885175 Broad TRIM50 135892 broad.mit.edu GRCh37 7 72727211 72727211 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000333149.2:c.1170G>C p.Lys390Asn p.K390N ENST00000333149 NM_001281450.1 390 aaG/aaC 0 Missense_Mutation C 24 TRIM50 SNP 7 C G 72365147 72365147 Broad PMPCB 9512 broad.mit.edu GRCh37 7 102937979 102937979 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000249269.4:c.73C>G p.Leu25Val p.L25V ENST00000249269 NM_004279.2 25 Ctt/Gtt 0 Missense_Mutation C 32 PMPCB SNP 7 C G 102725215 102725215 Broad NRCAM 4897 broad.mit.edu GRCh37 7 107818499 107818499 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000379028.3:c.2910G>A p.Leu970= p.L970= ENST00000379028 970 ttG/ttA 0 Silent C 21 NRCAM SNP 7 C T 107605735 107605735 Broad PTPRZ1 5803 broad.mit.edu GRCh37 7 121650503 121650503 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000393386.2:c.1403A>T p.Asn468Ile p.N468I ENST00000393386 NM_001206838.1 468 aAt/aTt 0 Missense_Mutation A 4 PTPRZ1 SNP 7 A T 121437739 121437739 Broad PARP12 64761 broad.mit.edu GRCh37 7 139726033 139726033 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000263549.3:c.1744C>T p.Arg582Trp p.R582W ENST00000263549 NM_022750.2 582 Cgg/Tgg 0 Missense_Mutation G 38 PARP12 SNP 7 G A 139372502 139372502 Broad OR2A5 393046 broad.mit.edu GRCh37 7 143748037 143748037 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000408906.2:c.543C>T p.Ile181= p.I181= ENST00000408906 NM_012365.1 181 atC/atT 0 Silent C 30 OR2A5 SNP 7 C T 143378970 143378970 Broad RP1 6101 broad.mit.edu GRCh37 8 55540233 55540233 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000220676.1:c.3791T>A p.Val1264Glu p.V1264E ENST00000220676 NM_006269.1 1264 gTa/gAa 0 Missense_Mutation T 57 RP1 SNP 8 T A 55702786 55702786 Broad CPA6 57094 broad.mit.edu GRCh37 8 68421759 68421759 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000297770.4:c.527T>G p.Ile176Ser p.I176S ENST00000297770 NM_020361.4 176 aTt/aGt 0 Missense_Mutation A 4 CPA6 SNP 8 A C 68584313 68584313 Broad VPS13B 157680 broad.mit.edu GRCh37 8 100866130 100866130 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000358544.2:c.10588C>T p.Arg3530Trp p.R3530W ENST00000358544 NM_017890.4 3530 Cgg/Tgg 0 Missense_Mutation C 31 VPS13B SNP 8 C T 100935306 100935306 Broad TG 7038 broad.mit.edu GRCh37 8 133900728 133900728 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000220616.4:c.2676T>C p.His892= p.H892= ENST00000220616 NM_003235.4 892 caT/caC 0 Silent T 52 TG SNP 8 T C 133969910 133969910 Broad FAM135B 51059 broad.mit.edu GRCh37 8 139380193 139380193 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000395297.1:c.34G>T p.Val12Leu p.V12L ENST00000395297 NM_015912.3 12 Gta/Tta 0 Missense_Mutation C 18 FAM135B SNP 8 C A 139449375 139449375 Broad SLC45A4 57210 broad.mit.edu GRCh37 8 142228775 142228775 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000024061.3:c.811C>G p.Pro271Ala p.P271A ENST00000024061 NM_001080431.1 271 Ccc/Gcc 0 Missense_Mutation G 42 SLC45A4 SNP 8 G C 142297957 142297957 Broad ZNF250 58500 broad.mit.edu GRCh37 8 146107277 146107277 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000292579.7:c.1306T>G p.Ser436Ala p.S436A ENST00000292579 NM_021061.4 436 Tca/Gca 0 Missense_Mutation A 11 ZNF250 SNP 8 A C 146078081 146078081 Broad RUSC2 9853 broad.mit.edu GRCh37 9 35560620 35560620 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000455600.1:c.3983G>C p.Cys1328Ser p.C1328S ENST00000455600 NM_001135999.1 1328 tGc/tCc 0 Missense_Mutation G 46 RUSC2 SNP 9 G C 35550620 35550620 Broad SMC2 10592 broad.mit.edu GRCh37 9 106896802 106896802 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000286398.7:c.3215T>A p.Val1072Asp p.V1072D ENST00000286398 NM_006444.2 1072 gTt/gAt 0 Missense_Mutation T 60 SMC2 SNP 9 T A 105936623 105936623 Broad FRMPD4 9758 broad.mit.edu GRCh37 X 12734761 12734761 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000380682.1:c.2183C>T p.Ala728Val p.A728V ENST00000380682 NM_014728.3 728 gCg/gTg 0 Missense_Mutation C 27 FRMPD4 SNP 23 C T 12644682 12644682 Broad ATP11C 286410 broad.mit.edu GRCh37 X 138813816 138813816 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown x x x ENST00000327569.3:c.3396G>T p.Leu1132Phe p.L1132F ENST00000327569 NM_173694.4 1132 ttG/ttT 0 Missense_Mutation C 17 ATP11C SNP 23 C A 138641482 138641482 Broad RERE 473 broad.mit.edu GRCh37 1 8419868 8419869 + inframe_insertion In_Frame_Ins INS - - CTCCTT novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000337907.3:c.3568_3573dup p.Lys1190_Glu1191dup p.K1190_E1191dup ENST00000337907 NM_012102.3 1191 -/AAGGAG 0 In_Frame_Ins - 38 RERE INS 1 CTCCTT - 8342456 8342455 Broad TRA2B 6434 broad.mit.edu GRCh37 3 185641608 185641608 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000453386.2:c.498del p.Phe166LeufsTer4 p.F166Lfs*4 ENST00000453386 NM_004593.2 166 ttT/tt 0 Frame_Shift_Del A 5 TRA2B DEL 3 - A 187124302 187124302 Broad PDE6B 5158 broad.mit.edu GRCh37 4 660316 660322 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL CCAGCCT CCAGCCT - novel Unknown TCGA-24-1422-01 TCGA-24-1422-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000496514.1:c.2269-4_2271del p.X757_splice ENST00000496514 0 Splice_Site_Del CCAGCCT 18 PDE6B DEL 4 - CCAGCCT 650322 650316 Broad SSX2IP 117178 broad.mit.edu GRCh37 1 85124057 85124057 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2038-01 TCGA-24-2038-10 Unknown Unknown Unknown x x x ENST00000342203.3:c.1022G>A p.Ser341Asn p.S341N ENST00000342203 NM_014021.3 341 aGc/aAc 0 Missense_Mutation C 28 SSX2IP SNP 1 C T 84896645 84896645 Broad DNMBP 23268 broad.mit.edu GRCh37 10 101639945 101639945 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2038-01 TCGA-24-2038-10 Unknown Unknown Unknown x x x ENST00000324109.4:c.4171G>A p.Ala1391Thr p.A1391T ENST00000324109 NM_015221.2 1391 Gct/Act 0 Missense_Mutation C 26 DNMBP SNP 10 C T 101629935 101629935 Broad C11orf30 56946 broad.mit.edu GRCh37 11 76253272 76253272 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2038-01 TCGA-24-2038-10 Unknown Unknown Unknown x x x ENST00000529032.1:c.2570C>A p.Ser857Tyr p.S857Y ENST00000529032 857 tCc/tAc 0 Missense_Mutation C 30 C11orf30 SNP 11 C A 75930920 75930920 Broad KRAS 3845 broad.mit.edu GRCh37 12 25398284 25398284 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2038-01 TCGA-24-2038-10 Unknown Unknown Unknown x x x ENST00000256078.4:c.35G>T p.Gly12Val p.G12V ENST00000256078 NM_033360.2 12 gGt/gTt 0 Missense_Mutation C 18 KRAS SNP 12 C A 25289551 25289551 Broad DNAH10 196385 broad.mit.edu GRCh37 12 124352060 124352060 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2038-01 TCGA-24-2038-10 Unknown Unknown Unknown x x x ENST00000409039.3:c.6860A>G p.Tyr2287Cys p.Y2287C ENST00000409039 NM_207437.3 2287 tAt/tGt 0 Missense_Mutation A 16 DNAH10 SNP 12 A G 122918013 122918013 Broad THSD4 79875 broad.mit.edu GRCh37 15 72057451 72057451 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2038-01 TCGA-24-2038-10 Unknown Unknown Unknown x x x ENST00000355327.3:c.2682A>T p.Glu894Asp p.E894D ENST00000355327 894 gaA/gaT 0 Missense_Mutation A 4 THSD4 SNP 15 A T 69844505 69844505 Broad WDR81 124997 broad.mit.edu GRCh37 17 1635752 1635752 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2038-01 TCGA-24-2038-10 Unknown Unknown Unknown x x x ENST00000409644.1:c.4291G>C p.Val1431Leu p.V1431L ENST00000409644 NM_001163809.1 1431 Gtc/Ctc 0 Missense_Mutation G 44 WDR81 SNP 17 G C 1582502 1582502 Broad OR4D2 124538 broad.mit.edu GRCh37 17 56247641 56247641 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2038-01 TCGA-24-2038-10 Unknown Unknown Unknown x x x ENST00000545221.1:c.625G>A p.Val209Ile p.V209I ENST00000545221 NM_001004707.3 209 Gtc/Atc 0 Missense_Mutation G 40 OR4D2 SNP 17 G A 53602640 53602640 Broad MC2R 4158 broad.mit.edu GRCh37 18 13884683 13884683 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2038-01 TCGA-24-2038-10 Unknown Unknown Unknown x x x ENST00000327606.3:c.835C>T p.Arg279Trp p.R279W ENST00000327606 NM_000529.2 279 Cgg/Tgg 0 Missense_Mutation G 39 MC2R SNP 18 G A 13874683 13874683 Broad PCDHA12 56137 broad.mit.edu GRCh37 5 140257112 140257112 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2038-01 TCGA-24-2038-10 Unknown Unknown Unknown x x x ENST00000398631.2:c.2055C>T p.Gly685= p.G685= ENST00000398631 NM_018903.2 685 ggC/ggT 0 Silent C 27 PCDHA12 SNP 5 C T 140237296 140237296 Broad TMEM176A 55365 broad.mit.edu GRCh37 7 150499360 150499360 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2038-01 TCGA-24-2038-10 Unknown Unknown Unknown x x x ENST00000484928.1:c.232C>T p.Arg78Cys p.R78C ENST00000484928 78 Cgc/Tgc 0 Missense_Mutation C 23 TMEM176A SNP 7 C T 150130293 150130293 Broad TBP 6908 broad.mit.edu GRCh37 6 170871013 170871014 + inframe_insertion In_Frame_Ins INS - - CAG novel Unknown TCGA-24-2038-01 TCGA-24-2038-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000392092.2:c.213_215dupGCA p.Gln95dup p.Q95dup ENST00000392092 NM_003194.4 63 -/CAG 0 In_Frame_Ins - 2 TBP INS 6 CAG - 170712939 170712938 Broad CASZ1 54897 broad.mit.edu GRCh37 1 10713455 10713455 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000377022.3:c.2659C>G p.Pro887Ala p.P887A ENST00000377022 NM_001079843.2 887 Ccc/Gcc 0 Missense_Mutation G 42 CASZ1 SNP 1 G C 10636042 10636042 Broad ST6GALNAC3 256435 broad.mit.edu GRCh37 1 76877903 76877903 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000328299.3:c.424T>C p.Tyr142His p.Y142H ENST00000328299 NM_152996.2 142 Tat/Cat 0 Missense_Mutation T 61 ST6GALNAC3 SNP 1 T C 76650491 76650491 Broad SEMA6C 10500 broad.mit.edu GRCh37 1 151110554 151110554 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000368913.3:c.575C>G p.Ala192Gly p.A192G ENST00000368913 NM_001178061.1 192 gCg/gGg 0 Missense_Mutation G 38 SEMA6C SNP 1 G C 149377178 149377178 Broad PVRL4 81607 broad.mit.edu GRCh37 1 161047421 161047421 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000368012.3:c.552C>A p.Asp184Glu p.D184E ENST00000368012 NM_030916.2 184 gaC/gaA 0 Missense_Mutation G 48 PVRL4 SNP 1 G T 159314045 159314045 Broad LPGAT1 9926 broad.mit.edu GRCh37 1 211956632 211956632 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000366997.4:c.666G>C p.Leu222Phe p.L222F ENST00000366997 NM_014873.2 222 ttG/ttC 0 Missense_Mutation C 29 LPGAT1 SNP 1 C G 210023255 210023255 Broad HSPA14 51182 broad.mit.edu GRCh37 10 14897850 14897850 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000378372.3:c.901G>C p.Glu301Gln p.E301Q ENST00000378372 NM_016299.3 301 Gaa/Caa 0 Missense_Mutation G 45 HSPA14 SNP 10 G C 14937856 14937856 Broad TCF7L2 6934 broad.mit.edu GRCh37 10 114905822 114905822 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000543371.1:c.841C>A p.Pro281Thr p.P281T ENST00000543371 NM_001198531.1 281 Ccc/Acc 0 Missense_Mutation C 22 TCF7L2 SNP 10 C A 114895812 114895812 Broad CLNS1A 1207 broad.mit.edu GRCh37 11 77340943 77340943 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000525428.1:c.127C>T p.Arg43Cys p.R43C ENST00000525428 NM_001293.2 43 Cgc/Tgc 0 Missense_Mutation G 39 CLNS1A SNP 11 G A 77018591 77018591 Broad PKNOX2 63876 broad.mit.edu GRCh37 11 125221240 125221240 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000298282.9:c.39G>C p.Met13Ile p.M13I ENST00000298282 NM_022062.2 13 atG/atC 0 Missense_Mutation G 45 PKNOX2 SNP 11 G C 124726450 124726450 Broad A2ML1 144568 broad.mit.edu GRCh37 12 8990969 8990969 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000299698.7:c.893T>A p.Met298Lys p.M298K ENST00000299698 NM_144670.4 298 aTg/aAg 0 Missense_Mutation T 51 A2ML1 SNP 12 T A 8882236 8882236 Broad OSBPL8 114882 broad.mit.edu GRCh37 12 76791502 76791502 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000261183.3:c.644C>A p.Pro215His p.P215H ENST00000261183 NM_020841.4 215 cCt/cAt 0 Missense_Mutation G 35 OSBPL8 SNP 12 G T 75315633 75315633 Broad PLA2G4F 255189 broad.mit.edu GRCh37 15 42442302 42442302 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000382396.4:c.923G>C p.Ser308Thr p.S308T ENST00000382396 308 aGc/aCc 0 Missense_Mutation C 24 PLA2G4F SNP 15 C G 40229594 40229594 Broad TICRR 90381 broad.mit.edu GRCh37 15 90167994 90167994 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000268138.7:c.4453G>C p.Val1485Leu p.V1485L ENST00000268138 1485 Gtg/Ctg 0 Missense_Mutation G 36 C15orf42 SNP 15 G C 87968998 87968998 Broad WDR93 56964 broad.mit.edu GRCh37 15 90276309 90276309 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000268130.7:c.1403C>A p.Ser468Ter p.S468* ENST00000268130 NM_020212.1 468 tCg/tAg 0 Nonsense_Mutation C 31 WDR93 SNP 15 C A 88077313 88077313 Broad DNAH3 55567 broad.mit.edu GRCh37 16 20975412 20975412 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000261383.3:c.9794C>T p.Ser3265Phe p.S3265F ENST00000261383 NM_017539.1 3265 tCc/tTc 0 Missense_Mutation G 41 DNAH3 SNP 16 G A 20882913 20882913 Broad KDM8 79831 broad.mit.edu GRCh37 16 27221648 27221648 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000441782.2:c.318C>T p.Ser106= p.S106= ENST00000441782 NM_001145348.1 106 agC/agT 0 Silent C 27 JMJD5 SNP 16 C T 27129149 27129149 Broad ANKFY1 51479 broad.mit.edu GRCh37 17 4145675 4145675 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000570535.1:c.205C>T p.Leu69= p.L69= ENST00000570535 NM_001257999.1 69 Ctg/Ttg 0 Silent G 34 ANKFY1 SNP 17 G A 4092424 4092424 Broad TP53 7157 broad.mit.edu GRCh37 17 7578239 7578239 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.610G>T p.Glu204Ter p.E204* ENST00000269305 NM_001126112.2 204 Gag/Tag 0 Nonsense_Mutation C 30 TP53 SNP 17 C A 7518964 7518964 Broad ADAP2 55803 broad.mit.edu GRCh37 17 29253866 29253866 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000330889.3:c.247C>T p.Leu83Phe p.L83F ENST00000330889 NM_018404.2 83 Ctc/Ttc 0 Missense_Mutation C 24 ADAP2 SNP 17 C T 26277992 26277992 Broad PSMD11 5717 broad.mit.edu GRCh37 17 30791556 30791556 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000261712.3:c.408G>A p.Leu136= p.L136= ENST00000261712 NM_001270482.1 136 ttG/ttA 0 Silent G 48 PSMD11 SNP 17 G A 27815669 27815669 Broad GPR179 440435 broad.mit.edu GRCh37 17 36495366 36495366 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000342292.4:c.837C>G p.Ile279Met p.I279M ENST00000342292 NM_001004334.2 279 atC/atG 0 Missense_Mutation G 45 GPR179 SNP 17 G C 33748892 33748892 Broad CTAGE1 64693 broad.mit.edu GRCh37 18 19997047 19997047 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000391403.2:c.728A>G p.Lys243Arg p.K243R ENST00000391403 NM_172241.2 243 aAg/aGg 0 Missense_Mutation T 56 CTAGE1 SNP 18 T C 18251045 18251045 Broad GP6 51206 broad.mit.edu GRCh37 19 55525891 55525891 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000310373.3:c.1422G>A p.Val474= p.V474= ENST00000310373 NM_001083899.1 474 gtG/gtA 0 Silent C 25 GP6 SNP 19 C T 60217703 60217703 Broad EPAS1 2034 broad.mit.edu GRCh37 2 46605800 46605800 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000263734.3:c.1448A>G p.Asn483Ser p.N483S ENST00000263734 NM_001430.4 483 aAt/aGt 0 Missense_Mutation A 4 EPAS1 SNP 2 A G 46459304 46459304 Broad IL18R1 8809 broad.mit.edu GRCh37 2 102984374 102984374 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000409599.1:c.148G>A p.Glu50Lys p.E50K ENST00000409599 50 Gaa/Aaa 0 Missense_Mutation G 45 IL18R1 SNP 2 G A 102350806 102350806 Broad NCKAP5 344148 broad.mit.edu GRCh37 2 133541057 133541057 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000409261.1:c.3327G>T p.Glu1109Asp p.E1109D ENST00000409261 NM_207363.2 1109 gaG/gaT 0 Missense_Mutation C 20 NCKAP5 SNP 2 C A 133257527 133257527 Broad TTN 7273 broad.mit.edu GRCh37 2 179414890 179414890 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000589042.1:c.91675A>T p.Thr30559Ser p.T30559S ENST00000589042 NM_001267550.1 30559 Act/Tct 0 Missense_Mutation T 60 TTN SNP 2 T A 179123136 179123136 Broad TMPRSS2 7113 broad.mit.edu GRCh37 21 42870072 42870072 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000398585.3:c.100G>C p.Asp34His p.D34H ENST00000398585 NM_001135099.1 34 Gat/Cat 0 Missense_Mutation C 29 TMPRSS2 SNP 21 C G 41791942 41791942 Broad TRPM2 7226 broad.mit.edu GRCh37 21 45798892 45798892 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000397928.1:c.1027G>A p.Ala343Thr p.A343T ENST00000397928 NM_003307.3 343 Gcc/Acc 0 Missense_Mutation G 38 TRPM2 SNP 21 G A 44623320 44623320 Broad GRAMD1C 54762 broad.mit.edu GRCh37 3 113623065 113623065 + synonymous_variant Silent SNP A A G novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000358160.4:c.735A>G p.Glu245= p.E245= ENST00000358160 NM_017577.4 245 gaA/gaG 0 Silent A 4 GRAMD1C SNP 3 A G 115105755 115105755 Broad STXBP5L 9515 broad.mit.edu GRCh37 3 120764285 120764285 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000273666.6:c.373G>T p.Ala125Ser p.A125S ENST00000273666 NM_014980.2 125 Gcc/Tcc 0 Missense_Mutation G 46 STXBP5L SNP 3 G T 122246975 122246975 Broad MAGEF1 64110 broad.mit.edu GRCh37 3 184429410 184429410 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000317897.3:c.200T>A p.Leu67Ter p.L67* ENST00000317897 NM_022149.4 67 tTg/tAg 0 Nonsense_Mutation A 5 MAGEF1 SNP 3 A T 185912104 185912104 Broad LEPREL1 55214 broad.mit.edu GRCh37 3 189838071 189838071 + synonymous_variant Silent SNP G G C novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000319332.5:c.450C>G p.Pro150= p.P150= ENST00000319332 NM_018192.3 150 ccC/ccG 0 Silent G 35 LEPREL1 SNP 3 G C 191320765 191320765 Broad UBE3D 90025 broad.mit.edu GRCh37 6 83667113 83667113 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000369747.3:c.1067C>T p.Ala356Val p.A356V ENST00000369747 NM_198920.1 356 gCa/gTa 0 Missense_Mutation G 46 UBE2CBP SNP 6 G A 83723832 83723832 Broad HEATR2 54919 broad.mit.edu GRCh37 7 825228 825228 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000297440.6:c.2506C>A p.Arg836Ser p.R836S ENST00000297440 NM_017802.3 836 Cgc/Agc 0 Missense_Mutation C 23 HEATR2 SNP 7 C A 791754 791754 Broad GTF2IRD2 84163 broad.mit.edu GRCh37 7 74211817 74211817 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000405086.2:c.2034G>A p.Val678= p.V678= ENST00000405086 NM_173537.3 678 gtG/gtA 0 Silent C 29 GTF2IRD2 SNP 7 C T 73849753 73849753 Broad MUC17 140453 broad.mit.edu GRCh37 7 100684114 100684114 + synonymous_variant Silent SNP T T A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000306151.4:c.9417T>A p.Ser3139= p.S3139= ENST00000306151 NM_001040105.1 3139 tcT/tcA 0 Silent T 53 MUC17 SNP 7 T A 100470834 100470834 Broad NRG1 3084 broad.mit.edu GRCh37 8 32621777 32621777 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000356819.4:c.1795C>G p.Pro599Ala p.P599A ENST00000356819 NM_013956.3 599 Ccc/Gcc 0 Missense_Mutation C 22 NRG1 SNP 8 C G 32741319 32741319 Broad ANK1 286 broad.mit.edu GRCh37 8 41543690 41543690 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000265709.8:c.4493G>A p.Arg1498His p.R1498H ENST00000265709 NM_001142446.1 1498 cGt/cAt 0 Missense_Mutation C 19 ANK1 SNP 8 C T 41662847 41662847 Broad ZNF16 7564 broad.mit.edu GRCh37 8 146157289 146157289 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000276816.4:c.884G>T p.Cys295Phe p.C295F ENST00000276816 NM_001029976.2 295 tGt/tTt 0 Missense_Mutation C 17 ZNF16 SNP 8 C A 146128093 146128093 Broad ZNF16 7564 broad.mit.edu GRCh37 8 146157361 146157361 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000276816.4:c.812G>C p.Gly271Ala p.G271A ENST00000276816 NM_001029976.2 271 gGg/gCg 0 Missense_Mutation C 22 ZNF16 SNP 8 C G 146128165 146128165 Broad WNK3 65267 broad.mit.edu GRCh37 X 54259359 54259359 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000354646.2:c.4723C>T p.Gln1575Ter p.Q1575* ENST00000354646 NM_020922.4 1575 Caa/Taa 0 Nonsense_Mutation G 47 WNK3 SNP 23 G A 54276084 54276084 Broad KIAA2022 340533 broad.mit.edu GRCh37 X 73961170 73961170 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown x x x ENST00000055682.6:c.3222G>A p.Pro1074= p.P1074= ENST00000055682 NM_001008537.2 1074 ccG/ccA 0 Silent C 23 KIAA2022 SNP 23 C T 73877895 73877895 Broad COLEC12 81035 broad.mit.edu GRCh37 18 334971 334972 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-61-2002-01 TCGA-61-2002-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000400256.3:c.1586dup p.Pro532ThrfsTer66 p.P532Tfs*66 ENST00000400256 NM_130386.2 529 ccg/ccCg 0 Frame_Shift_Ins - 23 COLEC12 INS 18 G - 324972 324971 Broad ABCA3 21 hgsc.bcm.edu GRCh37 16 2339472 2339472 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000301732.5:c.2663T>C p.Ile888Thr p.I888T ENST00000301732 NM_001089.2 888 aTc/aCc 0 Missense_Mutation A 12 ABCA3 SNP 16 A G 2279473 2279473 Baylor ACTC1 70 hgsc.bcm.edu GRCh37 15 35084378 35084378 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000290378.4:c.721A>G p.Ser241Gly p.S241G ENST00000290378 NM_005159.4 241 Agc/Ggc 0 Missense_Mutation T 54 ACTC1 SNP 15 T C 32871670 32871670 Baylor AFM 173 hgsc.bcm.edu GRCh37 4 74353498 74353498 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000226355.3:c.673G>T p.Gly225Trp p.G225W ENST00000226355 NM_001133.2 225 Ggg/Tgg 0 Missense_Mutation G 47 AFM SNP 4 G T 74572362 74572362 Baylor ANK2 287 hgsc.bcm.edu GRCh37 4 114280134 114280135 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357077.4:c.10367dupG p.Thr3457HisfsTer8 p.T3457Hfs*8 ENST00000357077 NM_001148.4 3454 agg/aGgg 0 Frame_Shift_Ins - 7 ANK2 INS 4 - G 114499584 114499583 Baylor ANKEF1 63926 hgsc.bcm.edu GRCh37 20 10030141 10030141 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378380.3:c.924A>T p.Arg308Ser p.R308S ENST00000378380 NM_198798.1 308 agA/agT 0 Missense_Mutation A 9 ANKRD5 SNP 20 A T 9978141 9978141 Baylor ANXA11 311 hgsc.bcm.edu GRCh37 10 81930605 81930605 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000438331.1:c.122A>T p.Asn41Ile p.N41I ENST00000438331 NM_145869.1 41 aAc/aTc 0 Missense_Mutation T 60 ANXA11 SNP 10 T A 81920585 81920585 Baylor ARHGAP1 392 hgsc.bcm.edu GRCh37 11 46702633 46702633 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311956.4:c.563A>G p.Tyr188Cys p.Y188C ENST00000311956 NM_004308.3 188 tAt/tGt 0 Missense_Mutation T 49 ARHGAP1 SNP 11 T C 46659209 46659209 Baylor ARPP21 10777 hgsc.bcm.edu GRCh37 3 35835264 35835264 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000458225.1:c.2256G>A p.Gln752= p.Q752= ENST00000458225 752 caG/caA 0 Silent G 35 ARPP-21 SNP 3 G A 35810268 35810268 Baylor ASXL3 80816 hgsc.bcm.edu GRCh37 18 31324250 31324250 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269197.5:c.4438A>T p.Thr1480Ser p.T1480S ENST00000269197 NM_030632.1 1480 Acg/Tcg 0 Missense_Mutation A 6 ASXL3 SNP 18 A T 29578248 29578248 Baylor BAP1 8314 hgsc.bcm.edu GRCh37 3 52440373 52440373 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000460680.1:c.679N>T p.Arg227Cys p.R227C ENST00000460680 NM_004656.3 227 Cgc/Tgc 0 Missense_Mutation G 39 BAP1 SNP 3 G A 52415413 52415413 Baylor CASP14 23581 hgsc.bcm.edu GRCh37 19 15166304 15166304 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000427043.3:c.584T>A p.Phe195Tyr p.F195Y ENST00000427043 NM_012114.2 195 tTc/tAc 0 Missense_Mutation T 62 CASP14 SNP 19 T A 15027304 15027304 Baylor CES1 1066 hgsc.bcm.edu GRCh37 16 55844443 55844443 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000360526.3:c.1304C>G p.Ala435Gly p.A435G ENST00000360526 NM_001266.4 435 gCc/gGc 0 Missense_Mutation G 42 CES1 SNP 16 G C 54401944 54401944 Baylor CNGA3 1261 hgsc.bcm.edu GRCh37 2 99013218 99013218 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393504.1:c.1585G>A p.Val529Met p.V529M ENST00000393504 NM_001298.2 529 Gtg/Atg 0 Missense_Mutation G 40 CNGA3 SNP 2 G A 98379650 98379650 Baylor CPN2 1370 hgsc.bcm.edu GRCh37 3 194063286 194063286 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000323830.3:c.146C>T p.Pro49Leu p.P49L ENST00000323830 NM_001080513.2 49 cCa/cTa 0 Missense_Mutation G 47 CPN2 SNP 3 G A 195544981 195544981 Baylor CPS1 1373 hgsc.bcm.edu GRCh37 2 211523337 211523337 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000430249.2:c.3699C>A p.Thr1233= p.T1233= ENST00000430249 NM_001122633.2 1233 acC/acA 0 Silent C 22 CPS1 SNP 2 C A 211231582 211231582 Baylor DAG1 1605 hgsc.bcm.edu GRCh37 3 49569910 49569910 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000545947.1:c.1966G>A p.Val656Met p.V656M ENST00000545947 NM_001177634.2 656 Gtg/Atg 0 Missense_Mutation G 40 DAG1 SNP 3 G A 49544914 49544914 Baylor DENND1A 57706 hgsc.bcm.edu GRCh37 9 126146015 126146015 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373624.2:c.1755G>A p.Gln585= p.Q585= ENST00000373624 NM_020946.1 585 caG/caA 0 Silent C 28 DENND1A SNP 9 C T 125185836 125185836 Baylor DSCAM 1826 hgsc.bcm.edu GRCh37 21 41648079 41648079 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000400454.1:c.2301G>C p.Lys767Asn p.K767N ENST00000400454 NM_001271534.1 767 aaG/aaC 0 Missense_Mutation C 24 DSCAM SNP 21 C G 40569949 40569949 Baylor FAM83B 222584 hgsc.bcm.edu GRCh37 6 54805235 54805235 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000306858.7:c.1466A>G p.Lys489Arg p.K489R ENST00000306858 NM_001010872.2 489 aAg/aGg 0 Missense_Mutation A 3 FAM83B SNP 6 A G 54913194 54913194 Baylor GPATCH2 55105 hgsc.bcm.edu GRCh37 1 217604630 217604630 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000366935.3:c.1444C>T p.Pro482Ser p.P482S ENST00000366935 NM_018040.2 482 Cct/Tct 0 Missense_Mutation G 42 GPATCH2 SNP 1 G A 215671253 215671253 Baylor GPR101 83550 hgsc.bcm.edu GRCh37 X 136113068 136113068 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000298110.1:c.766T>A p.Phe256Ile p.F256I ENST00000298110 NM_054021.1 256 Ttc/Atc 0 Missense_Mutation A 2 GPR101 SNP 23 A T 135940734 135940734 Baylor GSG2 83903 hgsc.bcm.edu GRCh37 17 3628421 3628422 + frameshift_variant Frame_Shift_Ins INS - - AA novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000325418.4:c.1193_1194insAA p.Asp398GlufsTer30 p.D398Efs*30 ENST00000325418 NM_031965.2 398 gat/gAAat 0 Frame_Shift_Ins - 45 GSG2 INS 17 - AA 3575171 3575170 Baylor GSK3A 2931 hgsc.bcm.edu GRCh37 19 42744212 42744212 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000222330.3:c.366C>G p.Ile122Met p.I122M ENST00000222330 NM_019884.2 122 atC/atG 0 Missense_Mutation G 45 GSK3A SNP 19 G C 47436052 47436052 Baylor HAPLN1 1404 hgsc.bcm.edu GRCh37 5 82937601 82937601 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000274341.4:c.779G>A p.Arg260His p.R260H ENST00000274341 NM_001884.3 260 cGt/cAt 0 Missense_Mutation C 19 HAPLN1 SNP 5 C T 82973357 82973357 Baylor HECTD1 25831 hgsc.bcm.edu GRCh37 14 31578715 31578715 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399332.1:c.6368T>A p.Phe2123Tyr p.F2123Y ENST00000399332 NM_015382.2 2123 tTt/tAt 0 Missense_Mutation A 1 HECTD1 SNP 14 A T 30648466 30648466 Baylor HIST1H1C 3006 hgsc.bcm.edu GRCh37 6 26056475 26056475 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000343677.2:c.182C>T p.Ala61Val p.A61V ENST00000343677 NM_005319.3 61 gCt/gTt 0 Missense_Mutation G 34 HIST1H1C SNP 6 G A 26164454 26164454 Baylor INHBA 3624 hgsc.bcm.edu GRCh37 7 41729762 41729763 + inframe_insertion In_Frame_Ins INS - - GTC novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000242208.4:c.766_767insGAC p.Val255_Leu256insArg p.V255_L256insR ENST00000242208 NM_002192.2 256 ctc/cGACtc 0 In_Frame_Ins - 11 INHBA INS 7 - GTC 41696288 41696287 Baylor ITPKB 3707 hgsc.bcm.edu GRCh37 1 226822487 226822487 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000429204.1:c.2726C>G p.Thr909Ser p.T909S ENST00000429204 NM_002221.3 909 aCc/aGc 0 Missense_Mutation G 44 ITPKB SNP 1 G C 224889110 224889110 Baylor KCNJ12 3768 hgsc.bcm.edu GRCh37 17 21319392 21319392 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000583088.1:c.738G>A p.Leu246= p.L246= ENST00000583088 NM_021012.4 246 ctG/ctA 0 Silent G 47 KCNJ12 SNP 17 G A 21259985 21259985 Baylor KCNJ9 3765 hgsc.bcm.edu GRCh37 1 160057394 160057394 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368088.3:c.969C>A p.His323Gln p.H323Q ENST00000368088 NM_004983.2 323 caC/caA 0 Missense_Mutation C 19 KCNJ9 SNP 1 C A 158324018 158324018 Baylor KIF4A 24137 hgsc.bcm.edu GRCh37 X 69510633 69510633 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374403.3:c.213A>T p.Pro71= p.P71= ENST00000374403 NM_012310.4 71 ccA/ccT 0 Silent A 6 KIF4A SNP 23 A T 69427358 69427358 Baylor KLHL29 114818 hgsc.bcm.edu GRCh37 2 23914547 23914547 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000486442.1:c.1083C>T p.Ser361= p.S361= ENST00000486442 NM_052920.1 361 tcC/tcT 0 Silent C 23 KLHL29 SNP 2 C T 23768052 23768052 Baylor LBP 3929 hgsc.bcm.edu GRCh37 20 36997702 36997702 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000217407.2:c.1045C>A p.Leu349Met p.L349M ENST00000217407 NM_004139.3 349 Ctg/Atg 0 Missense_Mutation C 24 LBP SNP 20 C A 36431116 36431116 Baylor LRP1 4035 hgsc.bcm.edu GRCh37 12 57604989 57604989 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000243077.3:c.12947G>T p.Gly4316Val p.G4316V ENST00000243077 NM_002332.2 4316 gGc/gTc 0 Missense_Mutation G 42 LRP1 SNP 12 G T 55891256 55891256 Baylor MAN2A1 4124 hgsc.bcm.edu GRCh37 5 109190892 109190892 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000261483.4:c.3028T>A p.Ser1010Thr p.S1010T ENST00000261483 NM_002372.2 1010 Tct/Act 0 Missense_Mutation T 62 MAN2A1 SNP 5 T A 109218791 109218791 Baylor MAPK9 5601 hgsc.bcm.edu GRCh37 5 179691823 179691823 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000452135.2:c.269A>G p.Asn90Ser p.N90S ENST00000452135 90 aAt/aGt 0 Missense_Mutation T 52 MAPK9 SNP 5 T C 179624429 179624429 Baylor MARK3 4140 hgsc.bcm.edu GRCh37 14 103918266 103918266 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000429436.2:c.358G>A p.Glu120Lys p.E120K ENST00000429436 NM_001128918.1 120 Gaa/Aaa 0 Missense_Mutation G 37 MARK3 SNP 14 G A 102988019 102988019 Baylor MCM3AP 8888 hgsc.bcm.edu GRCh37 21 47662800 47662800 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397708.1:c.5342A>G p.Asn1781Ser p.N1781S ENST00000397708 1781 aAc/aGc 0 Missense_Mutation T 60 MCM3AP SNP 21 T C 46487228 46487228 Baylor MUC6 4588 hgsc.bcm.edu GRCh37 11 1017773 1017773 + synonymous_variant Silent SNP G G A rs57384288 Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000421673.2:c.5028C>T p.Ser1676= p.S1676= ENST00000421673 NM_005961.2 1676 agC/agT 0 Silent G 38 MUC6 SNP 11 G A 1007773 1007773 Baylor MYO3B 140469 hgsc.bcm.edu GRCh37 2 171056682 171056682 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000408978.4:c.209C>G p.Ala70Gly p.A70G ENST00000408978 NM_138995.4 70 gCa/gGa 0 Missense_Mutation C 25 MYO3B SNP 2 C G 170764928 170764928 Baylor MYO5A 4644 hgsc.bcm.edu GRCh37 15 52606344 52606344 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399231.3:c.5391T>C p.Ser1797= p.S1797= ENST00000399231 NM_000259.3 1797 tcT/tcC 0 Silent A 7 MYO5A SNP 15 A G 50393636 50393636 Baylor KAT6A 7994 hgsc.bcm.edu GRCh37 8 41801475 41801475 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000396930.3:c.2019A>C p.Glu673Asp p.E673D ENST00000396930 NM_001099412.1 673 gaA/gaC 0 Missense_Mutation T 56 MYST3 SNP 8 T G 41920632 41920632 Baylor NCK2 8440 hgsc.bcm.edu GRCh37 2 106471535 106471535 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000233154.4:c.16A>T p.Ile6Phe p.I6F ENST00000233154 NM_003581.4 6 Att/Ttt 0 Missense_Mutation A 16 NCK2 SNP 2 A T 105837967 105837967 Baylor NDRG1 10397 hgsc.bcm.edu GRCh37 8 134296506 134296506 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000414097.2:c.49G>T p.Val17Leu p.V17L ENST00000414097 NM_001135242.1 17 Gtg/Ttg 0 Missense_Mutation C 18 NDRG1 SNP 8 C A 134365688 134365688 Baylor OR2B11 127623 hgsc.bcm.edu GRCh37 1 247615262 247615262 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000318749.6:c.23T>C p.Phe8Ser p.F8S ENST00000318749 NM_001004492.1 8 tTc/tCc 0 Missense_Mutation A 9 OR2B11 SNP 1 A G 245681885 245681885 Baylor OR9Q1 219956 hgsc.bcm.edu GRCh37 11 57947605 57947605 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000335397.3:c.689C>T p.Ala230Val p.A230V ENST00000335397 NM_001005212.3 230 gCt/gTt 0 Missense_Mutation C 28 OR9Q1 SNP 11 C T 57704181 57704181 Baylor OSMR 9180 hgsc.bcm.edu GRCh37 5 38881711 38881711 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000274276.3:c.263C>G p.Thr88Ser p.T88S ENST00000274276 NM_003999.2 88 aCt/aGt 0 Missense_Mutation C 20 OSMR SNP 5 C G 38917468 38917468 Baylor PAOX 196743 hgsc.bcm.edu GRCh37 10 135197635 135197639 + frameshift_variant Frame_Shift_Del DEL CGCCC CGCCC - novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 CGCCC CGCCC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000278060.5:c.1041_1045del p.Pro348GlyfsTer6 p.P348Gfs*6 ENST00000278060 NM_152911.2 347 tCGCCC/t 0 Frame_Shift_Del CGCCC 31 PAOX DEL 10 CGCCC - 135047629 135047625 Baylor PAX3 5077 hgsc.bcm.edu GRCh37 2 223096882 223096882 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000392069.2:c.707G>A p.Arg236His p.R236H ENST00000392069 NM_001127366.2 236 cGt/cAt 0 Missense_Mutation C 19 PAX3 SNP 2 C T 222805126 222805126 Baylor PC 5091 hgsc.bcm.edu GRCh37 11 66639505 66639505 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393960.1:c.126G>C p.Val42= p.V42= ENST00000393960 NM_001040716.1 42 gtG/gtC 0 Silent C 21 PC SNP 11 C G 66396081 66396081 Baylor PIGM 93183 hgsc.bcm.edu GRCh37 1 160000819 160000819 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368090.2:c.711G>T p.Thr237= p.T237= ENST00000368090 NM_145167.2 237 acG/acT 0 Silent C 19 PIGM SNP 1 C A 158267443 158267443 Baylor PPP1R3A 5506 hgsc.bcm.edu GRCh37 7 113517843 113517843 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000284601.3:c.3304G>A p.Val1102Ile p.V1102I ENST00000284601 NM_002711.3 1102 Gtt/Att 0 Missense_Mutation C 19 PPP1R3A SNP 7 C T 113305079 113305079 Baylor RNF113B 140432 hgsc.bcm.edu GRCh37 13 98828795 98828795 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000267291.6:c.696G>T p.Glu232Asp p.E232D ENST00000267291 NM_178861.4 232 gaG/gaT 0 Missense_Mutation C 24 RNF113B SNP 13 C A 97626796 97626796 Baylor RSPH10B2 728194 hgsc.bcm.edu GRCh37 7 6829286 6829286 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000403107.1:c.2035G>A p.Ala679Thr p.A679T ENST00000403107 679 Gcg/Acg 0 Missense_Mutation G 38 RSPH10B2 SNP 7 G A 6795811 6795811 Baylor SCCPDH 51097 hgsc.bcm.edu GRCh37 1 246890202 246890202 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000366510.3:c.199A>G p.Thr67Ala p.T67A ENST00000366510 NM_016002.2 67 Aca/Gca 0 Missense_Mutation A 2 SCCPDH SNP 1 A G 244956825 244956825 Baylor SCN4A 6329 hgsc.bcm.edu GRCh37 17 62034608 62034608 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000435607.1:c.2290G>A p.Glu764Lys p.E764K ENST00000435607 NM_000334.4 764 Gag/Aag 0 Missense_Mutation C 31 SCN4A SNP 17 C T 59388340 59388340 Baylor SEMA4F 10505 hgsc.bcm.edu GRCh37 2 74900821 74900821 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357877.2:c.688G>C p.Ala230Pro p.A230P ENST00000357877 NM_004263.4 230 Gcc/Ccc 0 Missense_Mutation G 34 SEMA4F SNP 2 G C 74754329 74754329 Baylor SLC16A13 201232 hgsc.bcm.edu GRCh37 17 6941624 6941624 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000308027.6:c.497A>T p.Tyr166Phe p.Y166F ENST00000308027 NM_201566.2 166 tAc/tTc 0 Missense_Mutation A 14 SLC16A13 SNP 17 A T 6882348 6882348 Baylor SLC34A1 6569 hgsc.bcm.edu GRCh37 5 176815137 176815137 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000324417.5:c.787G>A p.Ala263Thr p.A263T ENST00000324417 NM_003052.4 263 Gct/Act 0 Missense_Mutation G 46 SLC34A1 SNP 5 G A 176747743 176747743 Baylor SMAD1 4086 hgsc.bcm.edu GRCh37 4 146478948 146478948 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000515385.1:c.1260G>C p.Trp420Cys p.W420C ENST00000515385 420 tgG/tgC 0 Missense_Mutation G 43 SMAD1 SNP 4 G C 146698398 146698398 Baylor STAB2 55576 hgsc.bcm.edu GRCh37 12 104089335 104089335 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000388887.2:c.3383T>A p.Val1128Asp p.V1128D ENST00000388887 NM_017564.9 1128 gTc/gAc 0 Missense_Mutation T 58 STAB2 SNP 12 T A 102613465 102613465 Baylor STARD6 147323 hgsc.bcm.edu GRCh37 18 51863579 51863583 + frameshift_variant Frame_Shift_Del DEL TAGTT TAGTT - novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 TAGTT TAGTT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000581310.1:c.179_183del p.Lys60IlefsTer2 p.K60Ifs*2 ENST00000581310 60 aAACTA/a 0 Frame_Shift_Del TAGTT 49 STARD6 DEL 18 TAGTT - 50117581 50117577 Baylor TBC1D4 9882 hgsc.bcm.edu GRCh37 13 75936198 75936198 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377636.3:c.1044C>T p.Pro348= p.P348= ENST00000377636 NM_014832.2 348 ccC/ccT 0 Silent G 35 TBC1D4 SNP 13 G A 74834199 74834199 Baylor THSD7B 80731 hgsc.bcm.edu GRCh37 2 137852472 137852472 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000272643.3:c.980C>T p.Thr327Ile p.T327I ENST00000272643 327 aCt/aTt 0 Missense_Mutation C 20 THSD7B SNP 2 C T 137568942 137568942 Baylor TIMELESS 8914 hgsc.bcm.edu GRCh37 12 56817161 56817161 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000553532.1:c.2189A>G p.His730Arg p.H730R ENST00000553532 730 cAc/cGc 0 Missense_Mutation T 59 TIMELESS SNP 12 T C 55103428 55103428 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578550 7578550 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269305.4:c.380C>T p.Ser127Phe p.S127F ENST00000269305 NM_001126112.2 127 tCc/tTc 0 Missense_Mutation G 41 TP53 SNP 17 G A 7519275 7519275 Baylor XPO6 23214 hgsc.bcm.edu GRCh37 16 28118939 28118939 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000304658.5:c.2401G>C p.Gly801Arg p.G801R ENST00000304658 NM_015171.3 801 Ggg/Cgg 0 Missense_Mutation C 22 XPO6 SNP 16 C G 28026440 28026440 Baylor ZBTB40 9923 hgsc.bcm.edu GRCh37 1 22838463 22838463 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000404138.1:c.2297T>A p.Val766Glu p.V766E ENST00000404138 NM_001083621.1 766 gTg/gAg 0 Missense_Mutation T 59 ZBTB40 SNP 1 T A 22711050 22711050 Baylor ZCCHC11 23318 hgsc.bcm.edu GRCh37 1 52941000 52941000 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000257177.4:c.2231A>G p.Asn744Ser p.N744S ENST00000257177 744 aAt/aGt 0 Missense_Mutation T 52 ZCCHC11 SNP 1 T C 52713588 52713588 Baylor ZMYM2 7750 hgsc.bcm.edu GRCh37 13 20638635 20638635 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000382869.3:c.3082G>A p.Val1028Ile p.V1028I ENST00000382869 NM_001190965.1 1028 Gtt/Att 0 Missense_Mutation G 48 ZMYM2 SNP 13 G A 19536635 19536635 Baylor ABCG1 9619 hgsc.bcm.edu GRCh37 21 43708395 43708395 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361802.2:c.1233G>T p.Arg411Ser p.R411S ENST00000361802 NM_004915.3 411 agG/agT 0 Missense_Mutation G 41 ABCG1 SNP 21 G T 42581464 42581464 Baylor ACACB 32 hgsc.bcm.edu GRCh37 12 109623408 109623408 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000338432.7:c.1843C>T p.Arg615Trp p.R615W ENST00000338432 615 Cgg/Tgg 0 Missense_Mutation C 23 ACACB SNP 12 C T 108107791 108107791 Baylor ARMCX2 9823 hgsc.bcm.edu GRCh37 X 100912313 100912313 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000328766.5:c.262T>G p.Ser88Ala p.S88A ENST00000328766 NM_014782.5 88 Tct/Gct 0 Missense_Mutation A 11 ARMCX2 SNP 23 A C 100798969 100798969 Baylor CACNG3 10368 hgsc.bcm.edu GRCh37 16 24358116 24358116 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000005284.3:c.273G>A p.Gln91= p.Q91= ENST00000005284 NM_006539.3 91 caG/caA 0 Silent G 35 CACNG3 SNP 16 G A 24265617 24265617 Baylor CASKIN2 57513 hgsc.bcm.edu GRCh37 17 73501687 73501687 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000321617.3:c.881A>C p.Asn294Thr p.N294T ENST00000321617 NM_020753.4 294 aAc/aCc 0 Missense_Mutation T 60 CASKIN2 SNP 17 T G 71013282 71013282 Baylor CES5A 221223 hgsc.bcm.edu GRCh37 16 55880571 55880571 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000521992.1:c.1607C>T p.Ser536Phe p.S536F ENST00000521992 NM_001190158.1 536 tCt/tTt 0 Missense_Mutation G 33 CES7 SNP 16 G A 54438072 54438072 Baylor CHML 1122 hgsc.bcm.edu GRCh37 1 241797187 241797187 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000366553.1:c.1882C>T p.Pro628Ser p.P628S ENST00000366553 NM_001821.3 628 Cct/Tct 0 Missense_Mutation G 41 CHML SNP 1 G A 239863810 239863810 Baylor COL6A3 1293 hgsc.bcm.edu GRCh37 2 238266004 238266004 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295550.4:c.6568G>A p.Gly2190Arg p.G2190R ENST00000295550 NM_004369.3 2190 Gga/Aga 0 Missense_Mutation C 24 COL6A3 SNP 2 C T 237930743 237930743 Baylor CRP 1401 hgsc.bcm.edu GRCh37 1 159683683 159683683 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000255030.5:c.307G>A p.Glu103Lys p.E103K ENST00000255030 NM_000567.2 103 Gag/Aag 0 Missense_Mutation C 31 CRP SNP 1 C T 157950307 157950307 Baylor DCTN1 1639 hgsc.bcm.edu GRCh37 2 74596555 74596555 + synonymous_variant Silent SNP G G T novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361874.3:c.1456C>A p.Arg486= p.R486= ENST00000361874 NM_004082.4 486 Cgg/Agg 0 Silent G 38 DCTN1 SNP 2 G T 74450063 74450063 Baylor DDIT3 1649 hgsc.bcm.edu GRCh37 12 57910759 57910759 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000551116.1:c.412G>A p.Ala138Thr p.A138T ENST00000551116 NM_001195054.1 138 Gct/Act 0 Missense_Mutation C 26 DDIT3 SNP 12 C T 56197026 56197026 Baylor DDR1 780 hgsc.bcm.edu GRCh37 6 30856768 30856768 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000376575.3:c.169A>G p.Thr57Ala p.T57A ENST00000376575 57 Act/Gct 0 Missense_Mutation A 6 DDR1 SNP 6 A G 30964747 30964747 Baylor EIF3B 8662 hgsc.bcm.edu GRCh37 7 2415052 2415052 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000360876.4:c.1918A>G p.Thr640Ala p.T640A ENST00000360876 NM_001037283.1 640 Act/Gct 0 Missense_Mutation A 6 EIF3B SNP 7 A G 2381578 2381578 Baylor ERN2 10595 hgsc.bcm.edu GRCh37 16 23703610 23703610 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000256797.4:c.2287T>A p.Tyr763Asn p.Y763N ENST00000256797 NM_033266.3 763 Tac/Aac 0 Missense_Mutation A 15 ERN2 SNP 16 A T 23611111 23611111 Baylor FABP4 2167 hgsc.bcm.edu GRCh37 8 82391144 82391144 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000256104.4:c.355G>A p.Val119Ile p.V119I ENST00000256104 NM_001442.2 119 Gtc/Atc 0 Missense_Mutation C 19 FABP4 SNP 8 C T 82553699 82553699 Baylor FAM111A 63901 hgsc.bcm.edu GRCh37 11 58920846 58920846 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000528737.1:c.1705C>G p.Arg569Gly p.R569G ENST00000528737 569 Cgt/Ggt 0 Missense_Mutation C 31 FAM111A SNP 11 C G 58677422 58677422 Baylor FAM47B 170062 hgsc.bcm.edu GRCh37 X 34962096 34962096 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000329357.5:c.1148G>A p.Trp383Ter p.W383* ENST00000329357 NM_152631.2 383 tGg/tAg 0 Nonsense_Mutation G 47 FAM47B SNP 23 G A 34872017 34872017 Baylor FASTKD3 79072 hgsc.bcm.edu GRCh37 5 7867785 7867785 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264669.5:c.412T>G p.Cys138Gly p.C138G ENST00000264669 NM_024091.3 138 Tgt/Ggt 0 Missense_Mutation A 5 FASTKD3 SNP 5 A C 7920785 7920785 Baylor FBXO47 494188 hgsc.bcm.edu GRCh37 17 37101218 37101218 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000378079.2:c.788A>T p.Gln263Leu p.Q263L ENST00000378079 NM_001008777.2 263 cAa/cTa 0 Missense_Mutation T 63 FBXO47 SNP 17 T A 34354744 34354744 Baylor GPR112 139378 hgsc.bcm.edu GRCh37 X 135390976 135390976 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000394143.1:c.40A>C p.Ile14Leu p.I14L ENST00000394143 NM_153834.3 14 Att/Ctt 0 Missense_Mutation A 12 GPR112 SNP 23 A C 135218642 135218642 Baylor GRM8 2918 hgsc.bcm.edu GRCh37 7 126173408 126173408 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000339582.2:c.2028A>G p.Ile676Met p.I676M ENST00000339582 676 atA/atG 0 Missense_Mutation T 49 GRM8 SNP 7 T C 125960644 125960644 Baylor KANK1 23189 hgsc.bcm.edu GRCh37 9 738303 738303 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000382303.1:c.3352C>A p.Leu1118Ile p.L1118I ENST00000382303 NM_001256876.1 1118 Ctc/Atc 0 Missense_Mutation C 24 KANK1 SNP 9 C A 728303 728303 Baylor MAN1A1 4121 hgsc.bcm.edu GRCh37 6 119526032 119526032 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368468.3:c.1008C>G p.Asn336Lys p.N336K ENST00000368468 NM_005907.3 336 aaC/aaG 0 Missense_Mutation G 36 MAN1A1 SNP 6 G C 119567731 119567731 Baylor MTSS1 9788 hgsc.bcm.edu GRCh37 8 125580673 125580673 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000518547.1:c.565A>G p.Ile189Val p.I189V ENST00000518547 NM_014751.4 189 Att/Gtt 0 Missense_Mutation T 50 MTSS1 SNP 8 T C 125649854 125649854 Baylor KAT6B 23522 hgsc.bcm.edu GRCh37 10 76781908 76781908 + synonymous_variant Silent SNP A A G novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000287239.4:c.3291A>G p.Glu1097= p.E1097= ENST00000287239 NM_001256468.1 1097 gaA/gaG 0 Silent A 3 MYST4 SNP 10 A G 76451914 76451914 Baylor NBAS 51594 hgsc.bcm.edu GRCh37 2 15359049 15359049 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000281513.5:c.6280C>T p.Pro2094Ser p.P2094S ENST00000281513 NM_015909.3 2094 Cct/Tct 0 Missense_Mutation G 42 NBAS SNP 2 G A 15276500 15276500 Baylor NCKAP1 10787 hgsc.bcm.edu GRCh37 2 183848087 183848087 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000360982.2:c.1046G>T p.Arg349Leu p.R349L ENST00000360982 NM_013436.4 349 cGc/cTc 0 Missense_Mutation C 27 NCKAP1 SNP 2 C A 183556332 183556332 Baylor NR4A2 4929 hgsc.bcm.edu GRCh37 2 157184460 157184460 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000339562.4:c.1061del p.Glu354GlyfsTer9 p.E354Gfs*9 ENST00000339562 NM_006186.3 354 gAg/gg 0 Frame_Shift_Del T 54 NR4A2 DEL 2 T - 156892706 156892706 Baylor NRG1 3084 hgsc.bcm.edu GRCh37 8 32505843 32505843 + intron_variant Intron SNP C C A novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000356819.4:c.502+31440C>A *168* ENST00000356819 NM_013956.3 0 Missense_Mutation C 26 NRG1 SNP 8 C A 32625385 32625385 Baylor PBRM1 55193 hgsc.bcm.edu GRCh37 3 52685780 52685780 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000394830.3:c.692A>G p.Lys231Arg p.K231R ENST00000394830 NM_018313.4 231 aAg/aGg 0 Missense_Mutation T 56 PBRM1 SNP 3 T C 52660820 52660820 Baylor PDE6C 5146 hgsc.bcm.edu GRCh37 10 95400690 95400690 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371447.3:c.1751A>C p.Lys584Thr p.K584T ENST00000371447 NM_006204.3 584 aAg/aCg 0 Missense_Mutation A 3 PDE6C SNP 10 A C 95390680 95390680 Baylor SCN3A 6328 hgsc.bcm.edu GRCh37 2 165947488 165947488 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000283254.7:c.5175C>T p.Asp1725= p.D1725= ENST00000283254 NM_001081676.1 1725 gaC/gaT 0 Silent G 36 SCN3A SNP 2 G A 165655734 165655734 Baylor SEC23A 10484 hgsc.bcm.edu GRCh37 14 39514455 39514455 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000307712.6:c.1811G>A p.Arg604His p.R604H ENST00000307712 NM_006364.2 604 cGt/cAt 0 Missense_Mutation C 19 SEC23A SNP 14 C T 38584206 38584206 Baylor SEC61A1 29927 hgsc.bcm.edu GRCh37 3 127785876 127785876 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000243253.3:c.857C>T p.Thr286Met p.T286M ENST00000243253 NM_013336.3 286 aCg/aTg 0 Missense_Mutation C 19 SEC61A1 SNP 3 C T 129268566 129268566 Baylor TLL2 7093 hgsc.bcm.edu GRCh37 10 98133368 98133368 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357947.3:c.2647G>A p.Ala883Thr p.A883T ENST00000357947 NM_012465.3 883 Gca/Aca 0 Missense_Mutation C 26 TLL2 SNP 10 C T 98123358 98123358 Baylor TNFAIP3 7128 hgsc.bcm.edu GRCh37 6 138195993 138195993 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000237289.4:c.307T>G p.Cys103Gly p.C103G ENST00000237289 NM_001270507.1 103 Tgc/Ggc 0 Missense_Mutation T 63 TNFAIP3 SNP 6 T G 138237686 138237686 Baylor TOM1 10043 hgsc.bcm.edu GRCh37 22 35717995 35717995 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000411850.1:c.181A>C p.Asn61His p.N61H ENST00000411850 NM_001135732.1 61 Aat/Cat 0 Missense_Mutation A 9 TOM1 SNP 22 A C 34047995 34047995 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578290 7578290 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.560-1G>A p.X187_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 24 TP53 SNP 17 C T 7519015 7519015 Baylor TRIM73 375593 hgsc.bcm.edu GRCh37 7 75033005 75033005 + missense_variant Missense_Mutation SNP A A C rs3095183 Unknown TCGA-09-1661-01 TCGA-09-1661-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000323819.3:c.477A>C p.Lys159Asn p.K159N ENST00000323819 NM_198924.3 159 aaA/aaC 0 Missense_Mutation A 1 TRIM73 SNP 7 A C 74870941 74870941 Baylor TSHZ2 128553 hgsc.bcm.edu GRCh37 20 51873045 51873045 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371497.5:c.3048G>A p.Thr1016= p.T1016= ENST00000371497 NM_173485.5 1016 acG/acA 0 Silent G 38 TSHZ2 SNP 20 G A 51306452 51306452 Baylor TSHZ3 57616 hgsc.bcm.edu GRCh37 19 31770182 31770182 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000240587.4:c.517G>A p.Ala173Thr p.A173T ENST00000240587 NM_020856.2 173 Gct/Act 0 Missense_Mutation C 26 TSHZ3 SNP 19 C T 36462022 36462022 Baylor WNT2 7472 hgsc.bcm.edu GRCh37 7 116960728 116960728 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000265441.3:c.203G>A p.Gly68Asp p.G68D ENST00000265441 NM_003391.2 68 gGc/gAc 0 Missense_Mutation C 26 WNT2 SNP 7 C T 116747964 116747964 Baylor YIPF2 78992 hgsc.bcm.edu GRCh37 19 11034080 11034080 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000586748.1:c.838del p.Tyr280ThrfsTer71 p.Y280Tfs*71 ENST00000586748 280 Tac/ac 0 Frame_Shift_Del A 14 YIPF2 DEL 19 A - 10895080 10895080 Baylor ZNF691 51058 hgsc.bcm.edu GRCh37 1 43317461 43317461 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000397044.3:c.925C>G p.Gln309Glu p.Q309E ENST00000397044 309 Cag/Gag 0 Missense_Mutation C 17 ZNF691 SNP 1 C G 43090048 43090048 Baylor ZNF804A 91752 hgsc.bcm.edu GRCh37 2 185731113 185731113 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-1661-01 TCGA-09-1661-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000302277.6:c.129A>T p.Glu43Asp p.E43D ENST00000302277 NM_194250.1 43 gaA/gaT 0 Missense_Mutation A 1 ZNF804A SNP 2 A T 185439358 185439358 Baylor MACF1 23499 broad.mit.edu GRCh37 1 39797856 39797856 + intron_variant Intron SNP C C G novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000545844.1:c.4629+4831C>G *1543* ENST00000545844 0 Missense_Mutation C 24 MACF1 SNP 1 C G 39570443 39570443 Broad PIGK 10026 broad.mit.edu GRCh37 1 77620287 77620287 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000370812.3:c.833G>A p.Ser278Asn p.S278N ENST00000370812 NM_005482.2 278 aGt/aAt 0 Missense_Mutation C 20 PIGK SNP 1 C T 77392875 77392875 Broad CELSR2 1952 broad.mit.edu GRCh37 1 109794761 109794761 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000271332.3:c.2060C>T p.Ala687Val p.A687V ENST00000271332 NM_001408.2 687 gCc/gTc 0 Missense_Mutation C 26 CELSR2 SNP 1 C T 109596284 109596284 Broad OR2G6 391211 broad.mit.edu GRCh37 1 248685343 248685343 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000343414.4:c.396C>T p.Tyr132= p.Y132= ENST00000343414 NM_001013355.1 132 taC/taT 0 Silent C 17 OR2G6 SNP 1 C T 246751966 246751966 Broad OR2G6 391211 broad.mit.edu GRCh37 1 248685715 248685715 + synonymous_variant Silent SNP A A T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000343414.4:c.768A>T p.Ile256= p.I256= ENST00000343414 NM_001013355.1 256 atA/atT 0 Silent A 16 OR2G6 SNP 1 A T 246752338 246752338 Broad PRKCQ 5588 broad.mit.edu GRCh37 10 6504278 6504278 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000263125.5:c.1495G>T p.Gly499Ter p.G499* ENST00000263125 NM_006257.3 499 Gga/Tga 0 Nonsense_Mutation C 24 PRKCQ SNP 10 C A 6544284 6544284 Broad DCLRE1C 64421 broad.mit.edu GRCh37 10 14981854 14981854 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000378278.2:c.261C>A p.Ile87= p.I87= ENST00000378278 87 atC/atA 0 Silent G 37 DCLRE1C SNP 10 G T 15021860 15021860 Broad JMJD1C 221037 broad.mit.edu GRCh37 10 64950671 64950671 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000399262.2:c.6274T>C p.Tyr2092His p.Y2092H ENST00000399262 NM_032776.1 2092 Tat/Cat 0 Missense_Mutation A 16 JMJD1C SNP 10 A G 64620677 64620677 Broad WDR96 80217 broad.mit.edu GRCh37 10 105990459 105990459 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000357060.3:c.208G>A p.Val70Ile p.V70I ENST00000357060 NM_025145.5 70 Gtc/Atc 0 Missense_Mutation C 19 C10orf79 SNP 10 C T 105980449 105980449 Broad DNHD1 144132 broad.mit.edu GRCh37 11 6592324 6592324 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000254579.6:c.13582C>G p.Leu4528Val p.L4528V ENST00000254579 NM_144666.2 4528 Ctc/Gtc 0 Missense_Mutation C 32 DNHD1 SNP 11 C G 6548900 6548900 Broad OR5AS1 219447 broad.mit.edu GRCh37 11 55798443 55798443 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000313555.1:c.549T>C p.Pro183= p.P183= ENST00000313555 NM_001001921.1 183 ccT/ccC 0 Silent T 54 OR5AS1 SNP 11 T C 55555019 55555019 Broad ANO1 55107 broad.mit.edu GRCh37 11 69978061 69978061 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000355303.5:c.1134G>A p.Met378Ile p.M378I ENST00000355303 NM_018043.5 378 atG/atA 0 Missense_Mutation G 48 ANO1 SNP 11 G A 69655709 69655709 Broad CCDC82 79780 broad.mit.edu GRCh37 11 96117863 96117863 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000278520.5:c.49G>A p.Val17Met p.V17M ENST00000278520 17 Gtg/Atg 0 Missense_Mutation C 19 CCDC82 SNP 11 C T 95757511 95757511 Broad FGD4 121512 broad.mit.edu GRCh37 12 32751500 32751500 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000427716.2:c.670C>T p.Arg224Ter p.R224* ENST00000427716 NM_139241.2 224 Cga/Tga 0 Nonsense_Mutation C 23 FGD4 SNP 12 C T 32642767 32642767 Broad AACS 65985 broad.mit.edu GRCh37 12 125618566 125618566 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000316519.6:c.1567G>T p.Asp523Tyr p.D523Y ENST00000316519 NM_023928.3 523 Gac/Tac 0 Missense_Mutation G 37 AACS SNP 12 G T 124184519 124184519 Broad PIWIL1 9271 broad.mit.edu GRCh37 12 130847320 130847320 + synonymous_variant Silent SNP A A C novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000245255.3:c.1980A>C p.Ser660= p.S660= ENST00000245255 NM_004764.4 660 tcA/tcC 0 Silent A 6 PIWIL1 SNP 12 A C 129413273 129413273 Broad UTP14C 9724 broad.mit.edu GRCh37 13 52604308 52604308 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000521776.2:c.1368C>T p.Ser456= p.S456= ENST00000521776 NM_021645.5 456 tcC/tcT 0 Silent C 23 UTP14C SNP 13 C T 51502309 51502309 Broad ZC3H14 79882 broad.mit.edu GRCh37 14 89034472 89034472 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000251038.5:c.169A>T p.Asn57Tyr p.N57Y ENST00000251038 NM_024824.4 57 Aac/Tac 0 Missense_Mutation A 9 ZC3H14 SNP 14 A T 88104225 88104225 Broad PLCB2 5330 broad.mit.edu GRCh37 15 40590827 40590827 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000260402.3:c.933C>G p.His311Gln p.H311Q ENST00000260402 NM_004573.2 311 caC/caG 0 Missense_Mutation G 44 PLCB2 SNP 15 G C 38378119 38378119 Broad SCNN1B 6338 broad.mit.edu GRCh37 16 23390080 23390080 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000343070.2:c.1458C>A p.Thr486= p.T486= ENST00000343070 NM_000336.2 486 acC/acA 0 Silent C 22 SCNN1B SNP 16 C A 23297581 23297581 Broad NLRC5 84166 broad.mit.edu GRCh37 16 57075470 57075470 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000262510.6:c.3013G>A p.Gly1005Ser p.G1005S ENST00000262510 NM_032206.4 1005 Ggt/Agt 0 Missense_Mutation G 39 NLRC5 SNP 16 G A 55632971 55632971 Broad TP53 7157 broad.mit.edu GRCh37 17 7578519 7578519 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.411G>T p.Leu137= p.L137= ENST00000269305 NM_001126112.2 137 ctG/ctT 0 Silent C 21 TP53 SNP 17 C A 7519244 7519244 Broad RNF43 54894 broad.mit.edu GRCh37 17 56448295 56448295 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000407977.2:c.352C>A p.Pro118Thr p.P118T ENST00000407977 118 Ccc/Acc 0 Missense_Mutation G 43 RNF43 SNP 17 G T 53803294 53803294 Broad ABCA9 10350 broad.mit.edu GRCh37 17 67047175 67047175 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000340001.4:c.93G>C p.Leu31Phe p.L31F ENST00000340001 NM_080283.3 31 ttG/ttC 0 Missense_Mutation C 17 ABCA9 SNP 17 C G 64558770 64558770 Broad ABCA6 23460 broad.mit.edu GRCh37 17 67079029 67079029 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000284425.2:c.4601C>T p.Ala1534Val p.A1534V ENST00000284425 NM_080284.2 1534 gCt/gTt 0 Missense_Mutation G 34 ABCA6 SNP 17 G A 64590624 64590624 Broad TECR 9524 broad.mit.edu GRCh37 19 14675086 14675086 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000215567.5:c.476G>A p.Arg159His p.R159H ENST00000215567 NM_138501.5 159 cGc/cAc 0 Missense_Mutation G 38 TECR SNP 19 G A 14536086 14536086 Broad ZNF536 9745 broad.mit.edu GRCh37 19 31039137 31039137 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000355537.3:c.2611G>C p.Gly871Arg p.G871R ENST00000355537 NM_014717.1 871 Ggg/Cgg 0 Missense_Mutation G 43 ZNF536 SNP 19 G C 35730977 35730977 Broad KIAA0355 9710 broad.mit.edu GRCh37 19 34833276 34833276 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000299505.6:c.2437C>T p.Pro813Ser p.P813S ENST00000299505 NM_014686.3 813 Cct/Tct 0 Missense_Mutation C 18 KIAA0355 SNP 19 C T 39525116 39525116 Broad FCGBP 8857 broad.mit.edu GRCh37 19 40368417 40368417 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000221347.6:c.12931G>A p.Val4311Ile p.V4311I ENST00000221347 NM_003890.2 4311 Gtc/Atc 0 Missense_Mutation C 19 FCGBP SNP 19 C T 45060257 45060257 Broad FUT1 2523 broad.mit.edu GRCh37 19 49253511 49253511 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000310160.3:c.1028C>T p.Ala343Val p.A343V ENST00000310160 NM_000148.3 343 gCg/gTg 0 Missense_Mutation G 38 FUT1 SNP 19 G A 53945323 53945323 Broad CCNT2 905 broad.mit.edu GRCh37 2 135711833 135711833 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000264157.5:c.1808T>G p.Val603Gly p.V603G ENST00000264157 NM_058241.2 603 gTt/gGt 0 Missense_Mutation T 60 CCNT2 SNP 2 T G 135428303 135428303 Broad SCN2A 6326 broad.mit.edu GRCh37 2 166172150 166172150 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000357398.3:c.1553A>G p.Glu518Gly p.E518G ENST00000357398 518 gAg/gGg 0 Missense_Mutation A 11 SCN2A SNP 2 A G 165880396 165880396 Broad SMARCAL1 50485 broad.mit.edu GRCh37 2 217332751 217332751 + synonymous_variant Silent SNP G G A rs2271335 byHapMap TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000357276.4:c.2226G>A p.Thr742= p.T742= ENST00000357276 NM_014140.3 742 acG/acA 0 Silent G 38 SMARCAL1 SNP 2 G A 217040996 217040996 Broad SLC11A1 6556 broad.mit.edu GRCh37 2 219257824 219257824 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000233202.6:c.1285G>A p.Asp429Asn p.D429N ENST00000233202 NM_000578.3 429 Gat/Aat 0 Missense_Mutation G 45 SLC11A1 SNP 2 G A 218966068 218966068 Broad COL4A4 1286 broad.mit.edu GRCh37 2 227898182 227898182 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000396625.3:c.3521C>T p.Pro1174Leu p.P1174L ENST00000396625 NM_000092.4 1174 cCt/cTt 0 Missense_Mutation G 35 COL4A4 SNP 2 G A 227606426 227606426 Broad SLC19A3 80704 broad.mit.edu GRCh37 2 228564085 228564085 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000258403.3:c.346G>T p.Val116Phe p.V116F ENST00000258403 NM_025243.3 116 Gtc/Ttc 0 Missense_Mutation C 18 SLC19A3 SNP 2 C A 228272329 228272329 Broad SP140 11262 broad.mit.edu GRCh37 2 231110601 231110601 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000392045.3:c.688A>G p.Ile230Val p.I230V ENST00000392045 NM_007237.4 230 Ata/Gta 0 Missense_Mutation A 4 SP140 SNP 2 A G 230818845 230818845 Broad C22orf42 150297 broad.mit.edu GRCh37 22 32545766 32545766 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000382097.3:c.656C>G p.Ala219Gly p.A219G ENST00000382097 NM_001010859.1 219 gCa/gGa 0 Missense_Mutation G 46 C22orf42 SNP 22 G C 30875766 30875766 Broad ARPP21 10777 broad.mit.edu GRCh37 3 35778793 35778793 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000458225.1:c.1481C>T p.Pro494Leu p.P494L ENST00000458225 494 cCg/cTg 0 Missense_Mutation C 23 ARPP-21 SNP 3 C T 35753797 35753797 Broad ARL6IP5 10550 broad.mit.edu GRCh37 3 69153673 69153673 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000273258.3:c.453A>C p.Lys151Asn p.K151N ENST00000273258 NM_006407.3 151 aaA/aaC 0 Missense_Mutation A 1 ARL6IP5 SNP 3 A C 69236363 69236363 Broad FILIP1L 11259 broad.mit.edu GRCh37 3 99568055 99568055 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000354552.3:c.2465T>C p.Val822Ala p.V822A ENST00000354552 NM_182909.2 822 gTc/gCc 0 Missense_Mutation A 10 FILIP1L SNP 3 A G 101050745 101050745 Broad TF 7018 broad.mit.edu GRCh37 3 133478059 133478059 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000402696.3:c.1089G>T p.Trp363Cys p.W363C ENST00000402696 NM_001063.3 363 tgG/tgT 0 Missense_Mutation G 44 TF SNP 3 G T 134960749 134960749 Broad SI 6476 broad.mit.edu GRCh37 3 164709972 164709972 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000264382.3:c.4976A>C p.Tyr1659Ser p.Y1659S ENST00000264382 NM_001041.3 1659 tAc/tCc 0 Missense_Mutation T 57 SI SNP 3 T G 166192666 166192666 Broad CSN3 1448 broad.mit.edu GRCh37 4 71114781 71114781 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000304954.3:c.154C>G p.Pro52Ala p.P52A ENST00000304954 NM_005212.2 52 Cca/Gca 0 Missense_Mutation C 26 CSN3 SNP 4 C G 71149370 71149370 Broad HSPA4L 22824 broad.mit.edu GRCh37 4 128751886 128751886 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000296464.4:c.2260G>T p.Ala754Ser p.A754S ENST00000296464 NM_014278.2 754 Gca/Tca 0 Missense_Mutation G 46 HSPA4L SNP 4 G T 128971336 128971336 Broad DDO 8528 broad.mit.edu GRCh37 6 110714313 110714313 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000368924.3:c.775G>A p.Val259Ile p.V259I ENST00000368924 NM_003649.2 259 Gta/Ata 0 Missense_Mutation C 17 DDO SNP 6 C T 110821006 110821006 Broad SLC2A12 154091 broad.mit.edu GRCh37 6 134349982 134349982 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000275230.5:c.981G>C p.Lys327Asn p.K327N ENST00000275230 NM_145176.2 327 aaG/aaC 0 Missense_Mutation C 24 SLC2A12 SNP 6 C G 134391675 134391675 Broad NXPH1 30010 broad.mit.edu GRCh37 7 8790932 8790932 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000405863.1:c.349A>G p.Lys117Glu p.K117E ENST00000405863 NM_152745.2 117 Aaa/Gaa 0 Missense_Mutation A 9 NXPH1 SNP 7 A G 8757457 8757457 Broad MCM4 4173 broad.mit.edu GRCh37 8 48883167 48883167 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000262105.2:c.1531G>A p.Asp511Asn p.D511N ENST00000262105 NM_005914.3 511 Gac/Aac 0 Missense_Mutation G 37 MCM4 SNP 8 G A 49045720 49045720 Broad RB1CC1 9821 broad.mit.edu GRCh37 8 53555086 53555086 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000025008.5:c.4162G>T p.Glu1388Ter p.E1388* ENST00000025008 NM_014781.4 1388 Gaa/Taa 0 Nonsense_Mutation C 32 RB1CC1 SNP 8 C A 53717639 53717639 Broad TRPA1 8989 broad.mit.edu GRCh37 8 72973971 72973971 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000262209.4:c.833T>C p.Phe278Ser p.F278S ENST00000262209 NM_007332.2 278 tTt/tCt 0 Missense_Mutation A 1 TRPA1 SNP 8 A G 73136525 73136525 Broad TGFBR1 7046 broad.mit.edu GRCh37 9 101900289 101900289 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000374994.4:c.723G>T p.Ser241= p.S241= ENST00000374994 NM_004612.2 241 tcG/tcT 0 Silent G 40 TGFBR1 SNP 9 G T 100940110 100940110 Broad MED12 9968 broad.mit.edu GRCh37 X 70356305 70356305 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000374080.3:c.5200C>T p.Pro1734Ser p.P1734S ENST00000374080 1734 Ccc/Tcc 0 Missense_Mutation C 26 MED12 SNP 23 C T 70273030 70273030 Broad TENM1 10178 broad.mit.edu GRCh37 X 124029956 124029956 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000422452.2:c.352G>C p.Asp118His p.D118H ENST00000422452 NM_001163279.1 118 Gac/Cac 0 Missense_Mutation C 29 ODZ1 SNP 23 C G 123857637 123857637 Broad BCORL1 63035 broad.mit.edu GRCh37 X 129148822 129148822 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000540052.1:c.2074G>A p.Glu692Lys p.E692K ENST00000540052 NM_021946.4 692 Gag/Aag 0 Missense_Mutation G 37 BCORL1 SNP 23 G A 128976503 128976503 Broad ATP2B3 492 broad.mit.edu GRCh37 X 152807209 152807209 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2393-01 TCGA-25-2393-10 Unknown Unknown Unknown x x x ENST00000263519.4:c.489C>T p.Ser163= p.S163= ENST00000263519 NM_001001344.2 163 tcC/tcT 0 Silent C 23 ATP2B3 SNP 23 C T 152460403 152460403 Broad PLEKHM2 23207 broad.mit.edu GRCh37 1 16054800 16054801 + missense_variant Missense_Mutation DNP GC GC TG novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000375799.3:c.1869_1870delinsTG p.Gln624Glu p.Q624E ENST00000375799 NM_015164.2 623 ctGCag/ctTGag 0 Missense_Mutation GC 46 PLEKHM2 DNP 1 GC TG 15927388 15927387 Broad AKR7L 246181 broad.mit.edu GRCh37 1 19595129 19595129 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000420396.2:c.237C>T p.Gly79= p.G79= ENST00000420396 79 ggC/ggT 0 Missense_Mutation G 38 AKR7L SNP 1 G A 19467716 19467716 Broad THRAP3 9967 broad.mit.edu GRCh37 1 36755052 36755052 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000354618.5:c.1432C>A p.Pro478Thr p.P478T ENST00000354618 NM_005119.3 478 Cct/Act 0 Missense_Mutation C 18 THRAP3 SNP 1 C A 36527639 36527639 Broad KCNA10 3744 broad.mit.edu GRCh37 1 111061276 111061276 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000369771.2:c.134C>T p.Ser45Phe p.S45F ENST00000369771 NM_005549.2 45 tCc/tTc 0 Missense_Mutation G 41 KCNA10 SNP 1 G A 110862799 110862799 Broad GON4L 54856 broad.mit.edu GRCh37 1 155726770 155726770 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000437809.1:c.5496C>T p.Ile1832= p.I1832= ENST00000437809 1832 atC/atT 0 Silent G 37 GON4L SNP 1 G A 153993394 153993394 Broad FMN2 56776 broad.mit.edu GRCh37 1 240351518 240351518 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000319653.9:c.1942G>C p.Ala648Pro p.A648P ENST00000319653 NM_020066.4 648 Gct/Cct 0 Missense_Mutation G 46 FMN2 SNP 1 G C 238418141 238418141 Broad ATM 472 broad.mit.edu GRCh37 11 108115580 108115580 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000278616.4:c.728T>C p.Leu243Ser p.L243S ENST00000278616 NM_000051.3 243 tTg/tCg 0 Missense_Mutation T 63 ATM SNP 11 T C 107620790 107620790 Broad ATM 472 broad.mit.edu GRCh37 11 108199898 108199898 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000278616.4:c.7240C>T p.Gln2414Ter p.Q2414* ENST00000278616 NM_000051.3 2414 Caa/Taa 0 Nonsense_Mutation C 25 ATM SNP 11 C T 107705108 107705108 Broad CD163L1 283316 broad.mit.edu GRCh37 12 7585296 7585296 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000313599.3:c.482A>G p.Asn161Ser p.N161S ENST00000313599 161 aAc/aGc 0 Missense_Mutation T 60 CD163L1 SNP 12 T C 7476563 7476563 Broad ABCC9 10060 broad.mit.edu GRCh37 12 21960393 21960393 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000261200.4:c.4336G>T p.Gly1446Trp p.G1446W ENST00000261200 NM_020297.2 1446 Ggg/Tgg 0 Missense_Mutation C 21 ABCC9 SNP 12 C A 21851660 21851660 Broad PCED1B 91523 broad.mit.edu GRCh37 12 47629950 47629950 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000546455.1:c.1104C>T p.Phe368= p.F368= ENST00000546455 NM_138371.2 368 ttC/ttT 0 Silent C 31 FAM113B SNP 12 C T 45916217 45916217 Broad KRT4 3851 broad.mit.edu GRCh37 12 53207429 53207429 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000551956.1:c.414C>T p.Arg138= p.R138= ENST00000551956 138 cgC/cgT 0 Silent G 38 KRT4 SNP 12 G A 51493696 51493696 Broad KRT8 3856 broad.mit.edu GRCh37 12 53293652 53293652 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000552150.1:c.972C>T p.His324= p.H324= ENST00000552150 NM_001256282.1 324 caC/caT 0 Silent G 40 KRT8 SNP 12 G A 51579919 51579919 Broad IQCD 115811 broad.mit.edu GRCh37 12 113645405 113645405 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000299732.2:c.567G>A p.Glu189= p.E189= ENST00000299732 NM_138451.1 189 gaG/gaA 0 Silent C 28 IQCD SNP 12 C T 112129788 112129788 Broad RNF6 6049 broad.mit.edu GRCh37 13 26789649 26789649 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000381588.4:c.370A>G p.Thr124Ala p.T124A ENST00000381588 NM_005977.3 124 Act/Gct 0 Missense_Mutation T 60 RNF6 SNP 13 T C 25687649 25687649 Broad OR11G2 390439 broad.mit.edu GRCh37 14 20665969 20665969 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000357366.3:c.475G>C p.Asp159His p.D159H ENST00000357366 NM_001005503.1 159 Gat/Cat 0 Missense_Mutation G 45 OR11G2 SNP 14 G C 19735809 19735809 Broad PRKD1 5587 broad.mit.edu GRCh37 14 30107928 30107928 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000331968.5:c.879G>C p.Gly293= p.G293= ENST00000331968 NM_002742.2 293 ggG/ggC 0 Silent C 26 PRKD1 SNP 14 C G 29177679 29177679 Broad SERPINA3 12 broad.mit.edu GRCh37 14 95090124 95090124 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000467132.1:c.1245C>G p.Ser415Arg p.S415R ENST00000467132 415 agC/agG 0 Missense_Mutation C 25 SERPINA3 SNP 14 C G 94159877 94159877 Broad DUOX2 50506 broad.mit.edu GRCh37 15 45388074 45388074 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000603300.1:c.4032G>T p.Arg1344Ser p.R1344S ENST00000603300 NM_014080.4 1344 agG/agT 0 Missense_Mutation C 22 DUOX2 SNP 15 C A 43175366 43175366 Broad ZKSCAN2 342357 broad.mit.edu GRCh37 16 25258105 25258105 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000328086.7:c.1412A>T p.Asp471Val p.D471V ENST00000328086 NM_001012981.4 471 gAt/gTt 0 Missense_Mutation T 50 ZKSCAN2 SNP 16 T A 25165606 25165606 Broad PHKB 5257 broad.mit.edu GRCh37 16 47623001 47623001 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000323584.5:c.1056A>G p.Pro352= p.P352= ENST00000323584 NM_000293.2 352 ccA/ccG 0 Silent A 7 PHKB SNP 16 A G 46180502 46180502 Broad CDH3 1001 broad.mit.edu GRCh37 16 68725811 68725811 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000264012.4:c.1984G>A p.Ala662Thr p.A662T ENST00000264012 NM_001793.4 662 Gct/Act 0 Missense_Mutation G 42 CDH3 SNP 16 G A 67283312 67283312 Broad TLDC1 57707 broad.mit.edu GRCh37 16 84520435 84520435 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000343629.6:c.760A>G p.Ile254Val p.I254V ENST00000343629 NM_020947.3 254 Atc/Gtc 0 Missense_Mutation T 51 KIAA1609 SNP 16 T C 83077936 83077936 Broad TP53 7157 broad.mit.edu GRCh37 17 7578406 7578406 + missense_variant Missense_Mutation SNP C C T rs28934578 Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.524G>A p.Arg175His p.R175H ENST00000269305 NM_001126112.2 175 cGc/cAc 0 Missense_Mutation C 27 TP53 SNP 17 C T 7519131 7519131 Broad NCOR1 9611 broad.mit.edu GRCh37 17 15995294 15995294 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000268712.3:c.2899A>G p.Met967Val p.M967V ENST00000268712 NM_006311.3 967 Atg/Gtg 0 Missense_Mutation T 52 NCOR1 SNP 17 T C 15936019 15936019 Broad CACNA1A 773 broad.mit.edu GRCh37 19 13341003 13341003 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000360228.5:c.5421C>T p.Ala1807= p.A1807= ENST00000360228 NM_001127222.1 1807 gcC/gcT 0 Silent G 39 CACNA1A SNP 19 G A 13202003 13202003 Broad RYR1 6261 broad.mit.edu GRCh37 19 38980779 38980779 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000359596.3:c.5878G>T p.Ala1960Ser p.A1960S ENST00000359596 1960 Gcc/Tcc 0 Missense_Mutation G 34 RYR1 SNP 19 G T 43672619 43672619 Broad FCGBP 8857 broad.mit.edu GRCh37 19 40366417 40366417 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000221347.6:c.13817C>T p.Ala4606Val p.A4606V ENST00000221347 NM_003890.2 4606 gCg/gTg 0 Missense_Mutation G 38 FCGBP SNP 19 G A 45058257 45058257 Broad DEDD2 162989 broad.mit.edu GRCh37 19 42713954 42713954 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000595337.1:c.487C>T p.Arg163Trp p.R163W ENST00000595337 NM_001270614.1 163 Cgg/Tgg 0 Missense_Mutation G 39 DEDD2 SNP 19 G A 47405794 47405794 Broad PSG7 5676 broad.mit.edu GRCh37 19 43433693 43433693 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000406070.2:c.610C>A p.Leu204Ile p.L204I ENST00000406070 NM_002783.2 204 Cta/Ata 0 Missense_Mutation G 35 PSG7 SNP 19 G T 48125533 48125533 Broad KIR3DL1 3811 broad.mit.edu GRCh37 19 55331398 55331398 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000391728.4:c.586T>G p.Tyr196Asp p.Y196D ENST00000391728 NM_013289.2 196 Tac/Gac 0 Missense_Mutation T 53 KIR3DL1 SNP 19 T G 60023210 60023210 Broad PXDN 7837 broad.mit.edu GRCh37 2 1670193 1670193 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000252804.4:c.1084G>C p.Glu362Gln p.E362Q ENST00000252804 NM_012293.1 362 Gag/Cag 0 Missense_Mutation C 30 PXDN SNP 2 C G 1649200 1649200 Broad C2orf42 54980 broad.mit.edu GRCh37 2 70408551 70408551 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000264434.2:c.567G>C p.Leu189Phe p.L189F ENST00000264434 NM_017880.1 189 ttG/ttC 0 Missense_Mutation C 21 C2orf42 SNP 2 C G 70262055 70262055 Broad TTN 7273 broad.mit.edu GRCh37 2 179442380 179442380 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.68773A>G p.Ile22925Val p.I22925V ENST00000589042 NM_001267550.1 22925 Atc/Gtc 0 Missense_Mutation T 49 TTN SNP 2 T C 179150626 179150626 Broad GIGYF2 26058 broad.mit.edu GRCh37 2 233656088 233656088 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000409451.3:c.1277C>T p.Thr426Met p.T426M ENST00000409451 426 aCg/aTg 0 Missense_Mutation C 19 GIGYF2 SNP 2 C T 233364332 233364332 Broad ZBP1 81030 broad.mit.edu GRCh37 20 56188266 56188266 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000371173.3:c.623T>C p.Ile208Thr p.I208T ENST00000371173 NM_001160417.1 208 aTt/aCt 0 Missense_Mutation A 4 ZBP1 SNP 20 A G 55621672 55621672 Broad OPRL1 4987 broad.mit.edu GRCh37 20 62729726 62729726 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000349451.3:c.687C>T p.Leu229= p.L229= ENST00000349451 NM_001200019.1 229 ctC/ctT 0 Silent C 31 OPRL1 SNP 20 C T 62200170 62200170 Broad CACNA1D 776 broad.mit.edu GRCh37 3 53753780 53753780 + splice_acceptor_variant Splice_Site SNP A A G novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000288139.4:c.1539-2A>G p.X513_splice ENST00000288139 NM_000720.3 0 Splice_Site_SNP A 7 CACNA1D SNP 3 A G 53728820 53728820 Broad ARGFX 503582 broad.mit.edu GRCh37 3 121305335 121305335 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000334384.3:c.836C>G p.Ser279Cys p.S279C ENST00000334384 NM_001012659.1 279 tCt/tGt 0 Missense_Mutation C 32 ARGFX SNP 3 C G 122788025 122788025 Broad LRRC31 79782 broad.mit.edu GRCh37 3 169578358 169578358 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000316428.5:c.478C>G p.Gln160Glu p.Q160E ENST00000316428 NM_024727.3 160 Caa/Gaa 0 Missense_Mutation G 45 LRRC31 SNP 3 G C 171061052 171061052 Broad KIAA1211 57482 broad.mit.edu GRCh37 4 57181320 57181320 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000504228.1:c.1652C>G p.Pro551Arg p.P551R ENST00000504228 551 cCc/cGc 0 Missense_Mutation C 22 KIAA1211 SNP 4 C G 56876077 56876077 Broad PDZD2 23037 broad.mit.edu GRCh37 5 32093024 32093024 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000438447.1:c.7739T>G p.Leu2580Arg p.L2580R ENST00000438447 2580 cTt/cGt 0 Missense_Mutation T 56 PDZD2 SNP 5 T G 32128781 32128781 Broad ABLIM3 22885 broad.mit.edu GRCh37 5 148596590 148596590 + synonymous_variant Silent SNP A A T novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000506113.1:c.738A>T p.Gly246= p.G246= ENST00000506113 246 ggA/ggT 0 Silent A 11 ABLIM3 SNP 5 A T 148576783 148576783 Broad LAMA2 3908 broad.mit.edu GRCh37 6 129204407 129204407 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000421865.2:c.17G>T p.Gly6Val p.G6V ENST00000421865 NM_001079823.1 6 gGg/gTg 0 Missense_Mutation G 43 LAMA2 SNP 6 G T 129246100 129246100 Broad IGF2R 3482 broad.mit.edu GRCh37 6 160510188 160510188 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000356956.1:c.6370G>A p.Ala2124Thr p.A2124T ENST00000356956 NM_000876.2 2124 Gcc/Acc 0 Missense_Mutation G 46 IGF2R SNP 6 G A 160430178 160430178 Broad ELN 2006 broad.mit.edu GRCh37 7 73469099 73469099 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000252034.7:c.1150G>A p.Gly384Arg p.G384R ENST00000252034 NM_000501.3 384 Ggg/Agg 0 Missense_Mutation G 39 ELN SNP 7 G A 73107035 73107035 Broad MUC17 140453 broad.mit.edu GRCh37 7 100685237 100685237 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000306151.4:c.10540G>T p.Glu3514Ter p.E3514* ENST00000306151 NM_001040105.1 3514 Gaa/Taa 0 Nonsense_Mutation G 45 MUC17 SNP 7 G T 100471957 100471957 Broad MPDZ 8777 broad.mit.edu GRCh37 9 13206068 13206068 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000541718.1:c.1321A>G p.Asn441Asp p.N441D ENST00000541718 NM_001261407.1 441 Aat/Gat 0 Missense_Mutation T 61 MPDZ SNP 9 T C 13196068 13196068 Broad CXorf67 broad.mit.edu GRCh37 X 51150827 51150827 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2399-01 TCGA-25-2399-10 Unknown Unknown Unknown x x x ENST00000342995.2:c.959G>A p.Gly320Asp p.G320D ENST00000342995 320 gGc/gAc 0 Missense_Mutation G 42 LOC340602 SNP 23 G A 51167567 51167567 Broad BRICD5 283870 hgsc.bcm.edu GRCh37 16 2259693 2259693 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000328540.3:c.453G>T p.Trp151Cys p.W151C ENST00000328540 NM_182563.3 151 tgG/tgT 0 Missense_Mutation C 22 C16orf79 SNP 16 C A 2199694 2199694 Baylor CATSPER1 117144 hgsc.bcm.edu GRCh37 11 65793355 65793355 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000312106.5:c.496G>A p.Val166Met p.V166M ENST00000312106 NM_053054.3 166 Gtg/Atg 0 Missense_Mutation C 19 CATSPER1 SNP 11 C T 65549931 65549931 Baylor ENTPD1 953 hgsc.bcm.edu GRCh37 10 97599541 97599541 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371207.3:c.274C>T p.Gln92Ter p.Q92* ENST00000371207 NM_001164178.1 92 Caa/Taa 0 Nonsense_Mutation C 29 ENTPD1 SNP 10 C T 97589531 97589531 Baylor ILF3 3609 hgsc.bcm.edu GRCh37 19 10792682 10792683 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000449870.1:c.1201dupC p.Gln401ProfsTer39 p.Q401Pfs*39 ENST00000449870 NM_017620.2 398 -/C 0 Frame_Shift_Ins - 34 ILF3 INS 19 - C 10653683 10653682 Baylor L1TD1 54596 hgsc.bcm.edu GRCh37 1 62676612 62676612 + synonymous_variant Silent SNP A A G novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000498273.1:c.2166A>G p.Lys722= p.K722= ENST00000498273 NM_019079.4 722 aaA/aaG 0 Silent A 3 L1TD1 SNP 1 A G 62449200 62449200 Baylor MED19 219541 hgsc.bcm.edu GRCh37 11 57472563 57472563 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000337672.2:c.356C>T p.Pro119Leu p.P119L ENST00000337672 NM_153450.1 119 cCt/cTt 0 Missense_Mutation G 35 MED19 SNP 11 G A 57229139 57229139 Baylor PIGK 10026 hgsc.bcm.edu GRCh37 1 77627339 77627339 + synonymous_variant Silent SNP T T G novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000370812.3:c.642A>C p.Arg214= p.R214= ENST00000370812 NM_005482.2 214 cgA/cgC 0 Silent T 50 PIGK SNP 1 T G 77399927 77399927 Baylor RFC1 5981 hgsc.bcm.edu GRCh37 4 39301643 39301643 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381897.1:c.2809C>T p.Gln937Ter p.Q937* ENST00000381897 NM_002913.4 937 Cag/Tag 0 Nonsense_Mutation G 46 RFC1 SNP 4 G A 38978038 38978038 Baylor RRN3 54700 hgsc.bcm.edu GRCh37 16 15159135 15159135 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000198767.6:c.1647del p.Gln550ArgfsTer18 p.Q550Rfs*18 ENST00000198767 NM_018427.3 549 gtG/gt 0 Frame_Shift_Del C 25 RRN3 DEL 16 C - 15066636 15066636 Baylor SACS 26278 hgsc.bcm.edu GRCh37 13 23904819 23904819 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000382298.3:c.13196C>G p.Thr4399Ser p.T4399S ENST00000382298 NM_014363.5 4399 aCt/aGt 0 Missense_Mutation G 36 SACS SNP 13 G C 22802819 22802819 Baylor SLC24A3 57419 hgsc.bcm.edu GRCh37 20 19261705 19261705 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000328041.6:c.245G>A p.Arg82Gln p.R82Q ENST00000328041 NM_020689.3 82 cGg/cAg 0 Missense_Mutation G 39 SLC24A3 SNP 20 G A 19209705 19209705 Baylor SON 6651 hgsc.bcm.edu GRCh37 21 34948696 34948696 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000356577.4:c.7247del p.Arg2416AsnfsTer8 p.R2416Nfs*8 ENST00000356577 NM_138927.2 2416 aGa/aa 0 Frame_Shift_Del G 33 SON DEL 21 G - 33870566 33870566 Baylor TSHR 7253 hgsc.bcm.edu GRCh37 14 81609347 81609347 + synonymous_variant Silent SNP G G C novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000298171.2:c.945G>C p.Val315= p.V315= ENST00000298171 NM_000369.2 315 gtG/gtC 0 Silent G 45 TSHR SNP 14 G C 80679100 80679100 Baylor TSHR 7253 hgsc.bcm.edu GRCh37 14 81609409 81609409 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000298171.2:c.1007G>A p.Gly336Glu p.G336E ENST00000298171 NM_000369.2 336 gGg/gAg 0 Missense_Mutation G 43 TSHR SNP 14 G A 80679162 80679162 Baylor TSHR 7253 hgsc.bcm.edu GRCh37 14 81609546 81609546 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000298171.2:c.1144G>C p.Asp382His p.D382H ENST00000298171 NM_000369.2 382 Gac/Cac 0 Missense_Mutation G 45 TSHR SNP 14 G C 80679299 80679299 Baylor TSHR 7253 hgsc.bcm.edu GRCh37 14 81609585 81609585 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000298171.2:c.1183G>A p.Asp395Asn p.D395N ENST00000298171 NM_000369.2 395 Gac/Aac 0 Missense_Mutation G 33 TSHR SNP 14 G A 80679338 80679338 Baylor TSHR 7253 hgsc.bcm.edu GRCh37 14 81609653 81609653 + synonymous_variant Silent SNP G G C novel Unknown TCGA-36-1576-01 TCGA-36-1576-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000298171.2:c.1251G>C p.Leu417= p.L417= ENST00000298171 NM_000369.2 417 ctG/ctC 0 Silent G 45 TSHR SNP 14 G C 80679406 80679406 Baylor PINK1 65018 broad.mit.edu GRCh37 1 20975680 20975680 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000321556.4:c.1444G>A p.Val482Met p.V482M ENST00000321556 NM_032409.2 482 Gtg/Atg 0 Missense_Mutation G 40 PINK1 SNP 1 G A 20848267 20848267 Broad TNN 63923 broad.mit.edu GRCh37 1 175066671 175066671 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000239462.4:c.1707C>T p.Asp569= p.D569= ENST00000239462 NM_022093.1 569 gaC/gaT 0 Silent C 19 TNN SNP 1 C T 173333294 173333294 Broad CACNA1C 775 broad.mit.edu GRCh37 12 2622145 2622145 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000347598.4:c.1385G>A p.Arg462Gln p.R462Q ENST00000347598 NM_199460.2 462 cGa/cAa 0 Missense_Mutation G 37 CACNA1C SNP 12 G A 2492406 2492406 Broad CACNA1C 775 broad.mit.edu GRCh37 12 2774154 2774154 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000347598.4:c.4540C>G p.Leu1514Val p.L1514V ENST00000347598 NM_199460.2 1514 Ctg/Gtg 0 Missense_Mutation C 24 CACNA1C SNP 12 C G 2644415 2644415 Broad FGF23 8074 broad.mit.edu GRCh37 12 4479847 4479847 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000237837.1:c.418C>T p.Arg140Trp p.R140W ENST00000237837 NM_020638.2 140 Cgg/Tgg 0 Missense_Mutation G 39 FGF23 SNP 12 G A 4350108 4350108 Broad AKAP3 10566 broad.mit.edu GRCh37 12 4737304 4737304 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000545990.2:c.764G>T p.Arg255Ile p.R255I ENST00000545990 NM_001278309.1 255 aGa/aTa 0 Missense_Mutation C 32 AKAP3 SNP 12 C A 4607565 4607565 Broad F7 2155 broad.mit.edu GRCh37 13 113773172 113773172 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000375581.3:c.1251C>A p.Tyr417Ter p.Y417* ENST00000375581 NM_000131.4 417 taC/taA 0 Nonsense_Mutation C 18 F7 SNP 13 C A 112821173 112821173 Broad TEP1 7011 broad.mit.edu GRCh37 14 20836605 20836605 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000262715.5:c.7875T>C p.Asn2625= p.N2625= ENST00000262715 NM_007110.4 2625 aaT/aaC 0 Silent A 4 TEP1 SNP 14 A G 19906445 19906445 Broad ZFYVE26 23503 broad.mit.edu GRCh37 14 68260427 68260427 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000347230.4:c.2451G>A p.Leu817= p.L817= ENST00000347230 NM_015346.3 817 ttG/ttA 0 Silent C 25 ZFYVE26 SNP 14 C T 67330180 67330180 Broad ZNF839 55778 broad.mit.edu GRCh37 14 102805457 102805457 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000442396.2:c.1824G>A p.Val608= p.V608= ENST00000442396 608 gtG/gtA 0 Silent G 45 ZNF839 SNP 14 G A 101875210 101875210 Broad MAP1A 4130 broad.mit.edu GRCh37 15 43818726 43818726 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000300231.5:c.5055C>A p.Gly1685= p.G1685= ENST00000300231 1685 ggC/ggA 0 Silent C 25 MAP1A SNP 15 C A 41606018 41606018 Broad GLDN 342035 broad.mit.edu GRCh37 15 51696682 51696682 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000335449.6:c.1387G>A p.Val463Ile p.V463I ENST00000335449 NM_181789.2 463 Gtc/Atc 0 Missense_Mutation G 40 GLDN SNP 15 G A 49483974 49483974 Broad NARG2 79664 broad.mit.edu GRCh37 15 60734672 60734672 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000261520.4:c.2368G>A p.Glu790Lys p.E790K ENST00000261520 NM_024611.5 790 Gaa/Aaa 0 Missense_Mutation C 29 NARG2 SNP 15 C T 58521964 58521964 Broad SLC12A4 6560 broad.mit.edu GRCh37 16 67995580 67995580 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000422611.2:c.246G>A p.Ser82= p.S82= ENST00000422611 NM_001145962.1 82 tcG/tcA 0 Silent C 19 SLC12A4 SNP 16 C T 66553081 66553081 Broad HYDIN 54768 broad.mit.edu GRCh37 16 70977748 70977748 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000393567.2:c.6636A>G p.Glu2212= p.E2212= ENST00000393567 NM_001270974.1 2212 gaA/gaG 0 Silent T 60 HYDIN SNP 16 T C 69535249 69535249 Broad TP53 7157 broad.mit.edu GRCh37 17 7578370 7578370 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.559+1G>T p.X187_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 18 TP53 SNP 17 C A 7519095 7519095 Broad CYP2F1 1572 broad.mit.edu GRCh37 19 41633829 41633829 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000331105.2:c.1318T>C p.Ser440Pro p.S440P ENST00000331105 NM_000774.3 440 Tcg/Ccg 0 Missense_Mutation T 58 CYP2F1 SNP 19 T C 46325669 46325669 Broad DACT3 147906 broad.mit.edu GRCh37 19 47151966 47151966 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000391916.2:c.1663G>A p.Gly555Arg p.G555R ENST00000391916 NM_145056.2 555 Gga/Aga 0 Missense_Mutation C 22 DACT3 SNP 19 C T 51843806 51843806 Broad KCNF1 3754 broad.mit.edu GRCh37 2 11053305 11053305 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000295082.1:c.753G>A p.Ala251= p.A251= ENST00000295082 NM_002236.4 251 gcG/gcA 0 Silent G 38 KCNF1 SNP 2 G A 10970756 10970756 Broad STAMBP 10617 broad.mit.edu GRCh37 2 74076511 74076511 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000394070.2:c.764G>A p.Arg255His p.R255H ENST00000394070 NM_213622.2 255 cGc/cAc 0 Missense_Mutation G 38 STAMBP SNP 2 G A 73930019 73930019 Broad NEB 4703 broad.mit.edu GRCh37 2 152393705 152393705 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000397345.3:c.21148T>G p.Tyr7050Asp p.Y7050D ENST00000397345 NM_001164508.1 7050 Tat/Gat 0 Missense_Mutation A 15 NEB SNP 2 A C 152101951 152101951 Broad ANKEF1 63926 broad.mit.edu GRCh37 20 10030770 10030770 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000378380.3:c.1553T>A p.Val518Glu p.V518E ENST00000378380 NM_198798.1 518 gTg/gAg 0 Missense_Mutation T 59 ANKRD5 SNP 20 T A 9978770 9978770 Broad DIP2A 23181 broad.mit.edu GRCh37 21 47959829 47959829 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000417564.2:c.1961A>G p.Gln654Arg p.Q654R ENST00000417564 654 cAg/cGg 0 Missense_Mutation A 7 DIP2A SNP 21 A G 46784257 46784257 Broad TUBGCP6 85378 broad.mit.edu GRCh37 22 50658083 50658083 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000248846.5:c.4305C>T p.Tyr1435= p.Y1435= ENST00000248846 1435 taC/taT 0 Silent G 40 TUBGCP6 SNP 22 G A 49000210 49000210 Broad MLH1 4292 broad.mit.edu GRCh37 3 37042536 37042536 + stop_gained Nonsense_Mutation SNP C C T rs63751221 Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000231790.2:c.298C>T p.Arg100Ter p.R100* ENST00000231790 NM_000249.3 100 Cga/Tga 0 Nonsense_Mutation C 31 MLH1 SNP 3 C T 37017540 37017540 Broad CYP8B1 1582 broad.mit.edu GRCh37 3 42917233 42917233 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000316161.4:c.76C>T p.Arg26Ter p.R26* ENST00000316161 NM_004391.2 26 Cga/Tga 0 Nonsense_Mutation G 39 CYP8B1 SNP 3 G A 42892237 42892237 Broad TTC14 151613 broad.mit.edu GRCh37 3 180327949 180327949 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000296015.4:c.1932T>C p.Tyr644= p.Y644= ENST00000296015 NM_133462.3 644 taT/taC 0 Silent T 49 TTC14 SNP 3 T C 181810643 181810643 Broad KIT 3815 broad.mit.edu GRCh37 4 55604659 55604659 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000288135.5:c.2867G>A p.Arg956Gln p.R956Q ENST00000288135 NM_000222.2 956 cGg/cAg 0 Missense_Mutation G 39 KIT SNP 4 G A 55299416 55299416 Broad NUP155 9631 broad.mit.edu GRCh37 5 37318111 37318111 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000231498.3:c.2284G>T p.Glu762Ter p.E762* ENST00000231498 NM_153485.2 762 Gaa/Taa 0 Nonsense_Mutation C 30 NUP155 SNP 5 C A 37353868 37353868 Broad UBR2 23304 broad.mit.edu GRCh37 6 42623407 42623407 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000372899.1:c.2818G>C p.Glu940Gln p.E940Q ENST00000372899 NM_015255.2 940 Gag/Cag 0 Missense_Mutation G 33 UBR2 SNP 6 G C 42731385 42731385 Broad CUL7 9820 broad.mit.edu GRCh37 6 43013354 43013354 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000535468.1:c.3085A>G p.Ile1029Val p.I1029V ENST00000535468 NM_014780.4 1029 Atc/Gtc 0 Missense_Mutation T 51 CUL7 SNP 6 T C 43121332 43121332 Broad PRSS35 167681 broad.mit.edu GRCh37 6 84233321 84233321 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000536636.1:c.161C>T p.Ala54Val p.A54V ENST00000536636 NM_001170423.1 54 gCt/gTt 0 Missense_Mutation C 28 PRSS35 SNP 6 C T 84290040 84290040 Broad ABCA13 154664 broad.mit.edu GRCh37 7 48318490 48318490 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000435803.1:c.7699C>T p.Gln2567Ter p.Q2567* ENST00000435803 NM_152701.3 2567 Caa/Taa 0 Nonsense_Mutation C 29 ABCA13 SNP 7 C T 48289036 48289036 Broad TFR2 7036 broad.mit.edu GRCh37 7 100218710 100218710 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000462107.1:c.2176G>A p.Asp726Asn p.D726N ENST00000462107 726 Gac/Aac 0 Missense_Mutation C 31 TFR2 SNP 7 C T 100056646 100056646 Broad CUX1 1523 broad.mit.edu GRCh37 7 101842108 101842108 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000360264.3:c.1954C>G p.Leu652Val p.L652V ENST00000360264 NM_001202543.1 652 Cta/Gta 0 Missense_Mutation C 20 CUX1 SNP 7 C G 101628828 101628828 Broad GRM8 2918 broad.mit.edu GRCh37 7 126746620 126746620 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000339582.2:c.657G>A p.Ser219= p.S219= ENST00000339582 219 tcG/tcA 0 Silent C 31 GRM8 SNP 7 C T 126533856 126533856 Broad RHOBTB2 23221 broad.mit.edu GRCh37 8 22864797 22864797 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000519685.1:c.1105G>A p.Val369Met p.V369M ENST00000519685 NM_001160036.1 369 Gtg/Atg 0 Missense_Mutation G 40 RHOBTB2 SNP 8 G A 22920742 22920742 Broad FAM135B 51059 broad.mit.edu GRCh37 8 139163523 139163523 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000395297.1:c.3195C>T p.Pro1065= p.P1065= ENST00000395297 NM_015912.3 1065 ccC/ccT 0 Silent G 47 FAM135B SNP 8 G A 139232705 139232705 Broad NUP188 23511 broad.mit.edu GRCh37 9 131768820 131768821 + missense_variant Missense_Mutation DNP GG GG AA novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000372577.2:c.5113_5114delinsAA p.Gly1705Lys p.G1705K ENST00000372577 NM_015354.2 1705 GGa/AAa 0 Missense_Mutation GG 43 NUP188 DNP 9 GG AA 130808642 130808641 Broad FAM166A 401565 broad.mit.edu GRCh37 9 140138237 140138237 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown x x x ENST00000344774.4:c.869T>A p.Met290Lys p.M290K ENST00000344774 NM_001001710.1 290 aTg/aAg 0 Missense_Mutation A 8 FAM166A SNP 9 A T 139258058 139258058 Broad PTEN 5728 broad.mit.edu GRCh37 10 89717672 89717672 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 - - C C Unknown Valid Somatic Phase_I Capture Illumina GAIIx ENST00000371953.3:c.697del p.Arg233AspfsTer23 p.R233Dfs*23 ENST00000371953 NM_000314.4 233 Cga/ga 0 Frame_Shift_Del C 19 PTEN DEL 10 - - 89707652 89707652 Broad DAD1 1603 broad.mit.edu GRCh37 14 23058043 23058044 + frameshift_variant Frame_Shift_Del DEL AG AG - novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000250498.4:c.20_21del p.Ser7CysfsTer89 p.S7Cfs*89 ENST00000250498 NM_001344.2 7 tCT/t 0 Frame_Shift_Del AG 7 DAD1 DEL 14 - AG 22127884 22127883 Broad REST 5978 broad.mit.edu GRCh37 4 57777564 57777567 + frameshift_variant Frame_Shift_Del DEL ACAT ACAT - novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000309042.7:c.763_766del p.Tyr255GlnfsTer3 p.Y255Qfs*3 ENST00000309042 NM_005612.4 254 ACATac/ac 0 Frame_Shift_Del ACAT 6 REST DEL 4 - - 57472324 57472321 Broad TNXB 7148 broad.mit.edu GRCh37 6 32029918 32029947 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL CCCATCGTCCACTCACCTGTCACCCCGATG CCCATCGTCCACTCACCTGTCACCCCGATG - novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000375244.3:c.7155_7168+16del p.X2385_splice ENST00000375244 2385 0 Splice_Site_Del CCCATCGTCCACTCACCTGTCACCCCGATG 30 TNXB DEL 6 - CCCATCGTCCACTCACCTGTCACCCCGATG 32137925 32137896 Broad SLC37A3 84255 broad.mit.edu GRCh37 7 140048516 140048518 + inframe_deletion In_Frame_Del DEL AGA AGA - novel Unknown TCGA-13-1492-01 TCGA-13-1492-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000326232.9:c.932_934delTCT p.Phe311del p.F311del ENST00000326232 NM_207113.1 311 tTCTgg/tgg 0 In_Frame_Del AGA 7 SLC37A3 DEL 7 - AGA 139694987 139694985 Broad ACSL6 23305 hgsc.bcm.edu GRCh37 5 131309041 131309041 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379264.2:c.1121G>A p.Arg374His p.R374H ENST00000379264 NM_001009185.2 374 cGc/cAc 0 Missense_Mutation C 27 ACSL6 SNP 5 C T 131336940 131336940 Baylor ANP32B 10541 hgsc.bcm.edu GRCh37 9 100777710 100777710 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000339399.4:c.753T>A p.Asp251Glu p.D251E ENST00000339399 NM_006401.2 251 gaT/gaA 0 Missense_Mutation T 52 ANP32B SNP 9 T A 99817531 99817531 Baylor ARHGAP26 23092 hgsc.bcm.edu GRCh37 5 142281604 142281604 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000274498.4:c.702C>T p.Asn234= p.N234= ENST00000274498 NM_015071.4 234 aaC/aaT 0 Silent C 19 ARHGAP26 SNP 5 C T 142261788 142261788 Baylor CEP250 11190 hgsc.bcm.edu GRCh37 20 34050331 34050331 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000397527.1:c.139G>A p.Glu47Lys p.E47K ENST00000397527 NM_007186.3 47 Gag/Aag 0 Missense_Mutation G 41 CEP250 SNP 20 G A 33513745 33513745 Baylor ENTPD4 9583 hgsc.bcm.edu GRCh37 8 23305377 23305377 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358689.4:c.228C>T p.Asp76= p.D76= ENST00000358689 NM_001128930.2 76 gaC/gaT 0 Silent G 48 ENTPD4 SNP 8 G A 23361322 23361322 Baylor HOXB1 3211 hgsc.bcm.edu GRCh37 17 46608203 46608203 + missense_variant Missense_Mutation SNP A A G rs12950537 Unknown TCGA-09-1659-01 TCGA-09-1659-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000239174.6:c.64T>C p.Tyr22His p.Y22H ENST00000239174 NM_002144.3 22 Tac/Cac 0 Missense_Mutation A 15 HOXB1 SNP 17 A G 43963202 43963202 Baylor KIF2B 84643 hgsc.bcm.edu GRCh37 17 51902365 51902365 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000268919.4:c.1971G>T p.Lys657Asn p.K657N ENST00000268919 NM_032559.4 657 aaG/aaT 0 Missense_Mutation G 33 KIF2B SNP 17 G T 49257364 49257364 Baylor KLRC2 3822 hgsc.bcm.edu GRCh37 12 10588462 10588462 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381902.2:c.124G>T p.Glu42Ter p.E42* ENST00000381902 NM_002260.3 42 Gaa/Taa 0 Nonsense_Mutation C 32 KLRC2 SNP 12 C A 10479729 10479729 Baylor KPRP 448834 hgsc.bcm.edu GRCh37 1 152732148 152732148 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368773.1:c.84C>T p.Ser28= p.S28= ENST00000368773 NM_001025231.1 28 tcC/tcT 0 Silent C 22 KPRP SNP 1 C T 150998772 150998772 Baylor MYLK 4638 hgsc.bcm.edu GRCh37 3 123512657 123512657 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000360304.3:c.32A>G p.His11Arg p.H11R ENST00000360304 NM_053025.3 11 cAc/cGc 0 Missense_Mutation T 59 MYLK SNP 3 T C 124995347 124995347 Baylor MYPN 84665 hgsc.bcm.edu GRCh37 10 69955239 69955239 + synonymous_variant Silent SNP A A T novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358913.5:c.3108A>T p.Val1036= p.V1036= ENST00000358913 NM_032578.3 1036 gtA/gtT 0 Silent A 14 MYPN SNP 10 A T 69625245 69625245 Baylor PIAS2 9063 hgsc.bcm.edu GRCh37 18 44408069 44408069 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000585916.1:c.1361G>T p.Cys454Phe p.C454F ENST00000585916 NM_004671.3 454 tGt/tTt 0 Missense_Mutation C 17 PIAS2 SNP 18 C A 42662067 42662067 Baylor PREB 10113 hgsc.bcm.edu GRCh37 2 27354542 27354542 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000260643.2:c.1157G>A p.Arg386Gln p.R386Q ENST00000260643 NM_013388.4 386 cGg/cAg 0 Missense_Mutation C 23 PREB SNP 2 C T 27208046 27208046 Baylor PRPF40B 25766 hgsc.bcm.edu GRCh37 12 50024398 50024398 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000548825.2:c.74C>T p.Pro25Leu p.P25L ENST00000548825 NM_001031698.2 25 cCa/cTa 0 Missense_Mutation C 21 PRPF40B SNP 12 C T 48310665 48310665 Baylor SLC6A20 54716 hgsc.bcm.edu GRCh37 3 45823692 45823692 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358525.4:c.145A>C p.Ile49Leu p.I49L ENST00000358525 NM_020208.3 49 Atc/Ctc 0 Missense_Mutation T 51 SLC6A20 SNP 3 T G 45798696 45798696 Baylor SNTG1 54212 hgsc.bcm.edu GRCh37 8 51465654 51465654 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000522124.1:c.725G>T p.Gly242Val p.G242V ENST00000522124 NM_018967.2 242 gGg/gTg 0 Missense_Mutation G 43 SNTG1 SNP 8 G T 51628207 51628207 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577058 7577058 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.880G>T p.Glu294Ter p.E294* ENST00000269305 NM_001126112.2 294 Gag/Tag 0 Nonsense_Mutation C 30 TP53 SNP 17 C A 7517783 7517783 Baylor TRIM36 55521 hgsc.bcm.edu GRCh37 5 114482962 114482962 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000282369.3:c.428A>T p.Glu143Val p.E143V ENST00000282369 NM_018700.3 143 gAa/gTa 0 Missense_Mutation T 62 TRIM36 SNP 5 T A 114510861 114510861 Baylor USP36 57602 hgsc.bcm.edu GRCh37 17 76798549 76798554 + inframe_deletion In_Frame_Del DEL TTTTTC TTTTTC - novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 TTTTTC TTTTTC . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000542802.3:c.2874_2879del p.Lys959_Lys960del p.K959_K960del ENST00000542802 958 aaGAAAAAa/aaa 0 In_Frame_Del TTTTTC 64 USP36 DEL 17 TTTTTC - 74310149 74310144 Baylor ZIM2 23619 hgsc.bcm.edu GRCh37 19 57293433 57293433 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1659-01 TCGA-09-1659-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000391708.3:c.534C>A p.Phe178Leu p.F178L ENST00000391708 NM_001146327.1 178 ttC/ttA 0 Missense_Mutation G 37 ZIM2 SNP 19 G T 61985245 61985245 Baylor ANO4 121601 hgsc.bcm.edu GRCh37 12 101477519 101477519 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000392979.3:c.1354G>C p.Gly452Arg p.G452R ENST00000392979 NM_178826.3 452 Gga/Cga 0 Missense_Mutation G 47 ANO4 SNP 12 G C 100001650 100001650 Baylor BHMT2 23743 hgsc.bcm.edu GRCh37 5 78379052 78379052 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000255192.3:c.636C>T p.Pro212= p.P212= ENST00000255192 NM_017614.4 212 ccC/ccT 0 Silent C 23 BHMT2 SNP 5 C T 78414808 78414808 Baylor C10orf113 10529 hgsc.bcm.edu GRCh37 10 21414853 21414853 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000534331.1:c.367G>A p.Gly123Arg p.G123R ENST00000534331 NM_001010896.2 123 Gga/Aga 0 Missense_Mutation C 22 C10orf113 SNP 10 C T 21454859 21454859 Baylor CALCOCO2 10241 hgsc.bcm.edu GRCh37 17 46937737 46937737 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000448105.2:c.1142C>T p.Pro381Leu p.P381L ENST00000448105 381 cCg/cTg 0 Missense_Mutation C 23 CALCOCO2 SNP 17 C T 44292736 44292736 Baylor CDH4 1002 hgsc.bcm.edu GRCh37 20 60419770 60419770 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000360469.5:c.623C>T p.Thr208Met p.T208M ENST00000360469 NM_001794.3 208 aCg/aTg 0 Missense_Mutation C 19 CDH4 SNP 20 C T 59853165 59853165 Baylor CHSY3 337876 hgsc.bcm.edu GRCh37 5 129520720 129520720 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000305031.4:c.1885G>A p.Gly629Arg p.G629R ENST00000305031 NM_175856.4 629 Gga/Aga 0 Missense_Mutation G 39 CHSY3 SNP 5 G A 129548619 129548619 Baylor DDHD2 23259 hgsc.bcm.edu GRCh37 8 38110293 38110293 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000397166.2:c.1671T>G p.Phe557Leu p.F557L ENST00000397166 NM_015214.2 557 ttT/ttG 0 Missense_Mutation T 63 DDHD2 SNP 8 T G 38229450 38229450 Baylor FLRT2 23768 hgsc.bcm.edu GRCh37 14 86089196 86089196 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000330753.4:c.1338C>T p.Thr446= p.T446= ENST00000330753 NM_013231.4 446 acC/acT 0 Silent C 23 FLRT2 SNP 14 C T 85158949 85158949 Baylor GJC3 349149 hgsc.bcm.edu GRCh37 7 99526508 99526508 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000312891.2:c.736G>A p.Asp246Asn p.D246N ENST00000312891 NM_181538.2 246 Gat/Aat 0 Missense_Mutation C 31 GJC3 SNP 7 C T 99364444 99364444 Baylor LRRC15 131578 hgsc.bcm.edu GRCh37 3 194080112 194080112 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000439944.2:c.1679C>G p.Ser560Cys p.S560C ENST00000439944 NM_001135057.2 560 tCc/tGc 0 Missense_Mutation G 41 LRRC15 SNP 3 G C 195561407 195561407 Baylor NR3C1 2908 hgsc.bcm.edu GRCh37 5 142678313 142678313 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000231509.3:c.1815G>C p.Met605Ile p.M605I ENST00000231509 605 atG/atC 0 Missense_Mutation C 21 NR3C1 SNP 5 C G 142658506 142658506 Baylor NRF1 4899 hgsc.bcm.edu GRCh37 7 129350263 129350263 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393232.1:c.815A>T p.Gln272Leu p.Q272L ENST00000393232 NM_005011.3 272 cAg/cTg 0 Missense_Mutation A 7 NRF1 SNP 7 A T 129137499 129137499 Baylor NRXN3 9369 hgsc.bcm.edu GRCh37 14 79432697 79432697 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000554719.1:c.1606C>A p.Leu536Ile p.L536I ENST00000554719 NM_004796.5 536 Ctc/Atc 0 Missense_Mutation C 32 NRXN3 SNP 14 C A 78502450 78502450 Baylor PIGG 54872 hgsc.bcm.edu GRCh37 4 520847 520864 + inframe_deletion In_Frame_Del DEL CTCTCTGTCCTGGCTGCC CTCTCTGTCCTGGCTGCC - novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 CTCTCTGTCCTGGCTGCC CTCTCTGTCCTGGCTGCC . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000453061.2:c.2094_2111del p.Val699_Ser704del p.V699_S704del ENST00000453061 NM_001127178.1 697 CTCTCTGTCCTGGCTGCC/- 0 In_Frame_Del CTCTCTGTCCTGGCTGCC 28 PIGG DEL 4 CTCTCTGTCCTGGCTGCC - 510864 510847 Baylor RBM43 375287 hgsc.bcm.edu GRCh37 2 152108088 152108088 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000331426.5:c.406delA p.Ile136SerfsTer4 p.I136Sfs*4 ENST00000331426 NM_198557.2 136 Atc/tc 0 Frame_Shift_Del T 52 RBM43 DEL 2 T - 151816334 151816334 Baylor SEMA3E 9723 hgsc.bcm.edu GRCh37 7 83037703 83037703 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000307792.3:c.651C>T p.Asp217= p.D217= ENST00000307792 NM_012431.2 217 gaC/gaT 0 Silent G 40 SEMA3E SNP 7 G A 82875639 82875639 Baylor TARSL2 123283 hgsc.bcm.edu GRCh37 15 102226159 102226159 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000335968.3:c.1427T>G p.Phe476Cys p.F476C ENST00000335968 NM_152334.2 476 tTt/tGt 0 Missense_Mutation A 1 TARSL2 SNP 15 A C 100043682 100043682 Baylor TMCO5A 145942 hgsc.bcm.edu GRCh37 15 38235571 38235571 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000319669.4:c.599A>G p.Glu200Gly p.E200G ENST00000319669 NM_152453.2 200 gAa/gGa 0 Missense_Mutation A 9 TMCO5A SNP 15 A G 36022863 36022863 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7579494 7579494 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.193A>T p.Arg65Ter p.R65* ENST00000269305 NM_001126112.2 65 Aga/Tga 0 Nonsense_Mutation T 55 TP53 SNP 17 T A 7520219 7520219 Baylor TTR 7276 hgsc.bcm.edu GRCh37 18 29175118 29175118 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1517-01 TCGA-04-1517-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000237014.3:c.236C>T p.Thr79Ile p.T79I ENST00000237014 NM_000371.3 79 aCa/aTa 0 Missense_Mutation C 17 TTR SNP 18 C T 27429116 27429116 Baylor MUC5B 727897 genome.wustl.edu GRCh37 11 1267093 1267093 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G A G A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000529681.1:c.8983G>A p.Glu2995Lys p.E2995K ENST00000529681 NM_002458.2 2995 Gag/Aag 0 Missense_Mutation G 33 MUC5B SNP 11 G A 1223669 1223669 WashU KIAA0020 9933 genome.wustl.edu GRCh37 9 2831319 2831319 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397885.2:c.542G>C p.Arg181Pro p.R181P ENST00000397885 NM_014878.4 181 cGt/cCt 0 Missense_Mutation C 19 KIAA0020 SNP 9 C G 2821319 2821319 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578265 7578265 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.584T>C p.Ile195Thr p.I195T ENST00000269305 NM_001126112.2 195 aTc/aCc 0 Missense_Mutation A 12 TP53 SNP 17 A G 7518990 7518990 WashU ZNF799 90576 genome.wustl.edu GRCh37 19 12502419 12502419 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000430385.3:c.793T>C p.Tyr265His p.Y265H ENST00000430385 NM_001080821.2 265 Tac/Cac 0 Missense_Mutation A 13 ZNF799 SNP 19 A G 12363419 12363419 WashU SOX6 55553 genome.wustl.edu GRCh37 11 16340158 16340158 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396356.3:c.279A>C p.Arg93= p.R93= ENST00000396356 NM_033326.3 93 cgA/cgC 0 Silent T 62 SOX6 SNP 11 T G 16296734 16296734 WashU CECR2 27443 genome.wustl.edu GRCh37 22 18016909 18016909 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262608.8:c.1163A>G p.Lys388Arg p.K388R ENST00000262608 NM_031413.3 388 aAg/aGg 0 Missense_Mutation A 3 CECR2 SNP 22 A G 16396909 16396909 WashU SDC1 6382 genome.wustl.edu GRCh37 2 20403737 20403737 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381150.1:c.464G>T p.Arg155Met p.R155M ENST00000381150 NM_001006946.1 155 aGg/aTg 0 Missense_Mutation C 24 SDC1 SNP 2 C A 20267218 20267218 WashU SKIDA1 387640 genome.wustl.edu GRCh37 10 21804166 21804166 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000449193.2:c.2586G>T p.Gly862= p.G862= ENST00000449193 NM_207371.3 862 ggG/ggT 0 Silent C 22 C10orf140 SNP 10 C A 21844172 21844172 WashU USP48 84196 genome.wustl.edu GRCh37 1 22021622 22021622 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308271.9:c.2820A>T p.Lys940Asn p.K940N ENST00000308271 NM_032236.5 940 aaA/aaT 0 Missense_Mutation T 56 USP48 SNP 1 T A 21894209 21894209 WashU C14orf93 60686 genome.wustl.edu GRCh37 14 23465339 23465339 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299088.6:c.736C>G p.Leu246Val p.L246V ENST00000299088 NM_001130708.1 246 Ctg/Gtg 0 Missense_Mutation G 34 C14orf93 SNP 14 G C 22535179 22535179 WashU UPB1 51733 genome.wustl.edu GRCh37 22 24919597 24919597 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326010.5:c.927C>G p.Asp309Glu p.D309E ENST00000326010 NM_016327.2 309 gaC/gaG 0 Missense_Mutation C 20 UPB1 SNP 22 C G 23249597 23249597 WashU KIAA1217 56243 genome.wustl.edu GRCh37 10 24762210 24762210 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376454.3:c.900C>T p.Pro300= p.P300= ENST00000376454 NM_019590.3 300 ccC/ccT 0 Silent C 23 KIAA1217 SNP 10 C T 24802216 24802216 WashU ITPR2 3709 genome.wustl.edu GRCh37 12 26755416 26755416 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381340.3:c.3565C>A p.Leu1189Ile p.L1189I ENST00000381340 NM_002223.2 1189 Cta/Ata 0 Missense_Mutation G 34 ITPR2 SNP 12 G T 26646683 26646683 WashU HOXA1 3198 genome.wustl.edu GRCh37 7 27135485 27135485 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343060.4:c.47G>C p.Ser16Thr p.S16T ENST00000343060 NM_005522.4 16 aGc/aCc 0 Missense_Mutation C 28 HOXA1 SNP 7 C G 27102010 27102010 WashU MAP3K7CL 56911 genome.wustl.edu GRCh37 21 30532351 30532351 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399947.2:c.522G>C p.Lys174Asn p.K174N ENST00000399947 NM_020152.2 174 aaG/aaC 0 Missense_Mutation G 35 C21orf7 SNP 21 G C 29454222 29454222 WashU PDCD6IP 10015 genome.wustl.edu GRCh37 3 33894096 33894096 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000457054.2:c.1773A>T p.Thr591= p.T591= ENST00000457054 NM_013374.5 591 acA/acT 0 Silent A 7 PDCD6IP SNP 3 A T 33869100 33869100 WashU UBAP2 55833 genome.wustl.edu GRCh37 9 33986812 33986812 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379238.1:c.466G>C p.Asp156His p.D156H ENST00000379238 156 Gat/Cat 0 Missense_Mutation C 29 UBAP2 SNP 9 C G 33976812 33976812 WashU SLC5A3 6526 genome.wustl.edu GRCh37 21 35467850 35467850 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000381151.3:c.353G>T p.Gly118Val p.G118V ENST00000381151 118 gGt/gTt 0 Missense_Mutation G 44 SLC5A3 SNP 21 G T 34389720 34389720 WashU FAM47C 442444 genome.wustl.edu GRCh37 X 37028554 37028554 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C T C T Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358047.3:c.2071C>T p.Arg691Cys p.R691C ENST00000358047 NM_001013736.2 691 Cgc/Tgc 0 Missense_Mutation C 23 FAM47C SNP 23 C T 36938475 36938475 WashU HEATR5B 54497 genome.wustl.edu GRCh37 2 37215847 37215847 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000233099.5:c.5853G>A p.Ala1951= p.A1951= ENST00000233099 NM_019024.1 1951 gcG/gcA 0 Silent C 23 HEATR5B SNP 2 C T 37069351 37069351 WashU CNTNAP1 8506 genome.wustl.edu GRCh37 17 40847741 40847741 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000264638.4:c.3195T>A p.Pro1065= p.P1065= ENST00000264638 NM_003632.2 1065 ccT/ccA 0 Silent T 55 CNTNAP1 SNP 17 T A 38101267 38101267 WashU PTPRT 11122 genome.wustl.edu GRCh37 20 40714466 40714466 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373198.4:c.3931A>G p.Thr1311Ala p.T1311A ENST00000373198 NM_133170.3 1311 Acc/Gcc 0 Missense_Mutation T 58 PTPRT SNP 20 T C 40147880 40147880 WashU KBTBD6 89890 genome.wustl.edu GRCh37 13 41705167 41705167 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379485.1:c.1481T>G p.Met494Arg p.M494R ENST00000379485 NM_152903.4 494 aTg/aGg 0 Missense_Mutation A 8 KBTBD6 SNP 13 A C 40603167 40603167 WashU COX6B1 1340 genome.wustl.edu GRCh37 19 36139786 36139786 + intron_variant Intron SNP C C T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000246554.3:c.-12+481C>T *4* ENST00000246554 NM_001863.4 0 Nonsense_Mutation C 29 COX6B1 SNP 19 C T 40831626 40831626 WashU SHF 90525 genome.wustl.edu GRCh37 15 45464501 45464501 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000290894.8:c.809C>A p.Pro270Gln p.P270Q ENST00000290894 NM_138356.2 270 cCg/cAg 0 Missense_Mutation G 39 SHF SNP 15 G T 43251793 43251793 WashU HOXB1 3211 genome.wustl.edu GRCh37 17 46608035 46608035 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000239174.6:c.232A>T p.Ser78Cys p.S78C ENST00000239174 NM_002144.3 78 Agc/Tgc 0 Missense_Mutation T 55 HOXB1 SNP 17 T A 43963034 43963034 WashU TESK2 10420 genome.wustl.edu GRCh37 1 45810773 45810773 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372086.3:c.1455C>G p.Arg485= p.R485= ENST00000372086 NM_007170.2 485 cgC/cgG 0 Silent G 42 TESK2 SNP 1 G C 45583360 45583360 WashU HTR2A 3356 genome.wustl.edu GRCh37 13 47466582 47466582 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378688.4:c.556T>C p.Phe186Leu p.F186L ENST00000378688 186 Ttc/Ctc 0 Missense_Mutation A 3 HTR2A SNP 13 A G 46364583 46364583 WashU MED4 29079 genome.wustl.edu GRCh37 13 48664501 48664501 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258648.2:c.179G>T p.Gly60Val p.G60V ENST00000258648 NM_014166.3 60 gGa/gTa 0 Missense_Mutation C 30 MED4 SNP 13 C A 47562502 47562502 WashU ERCC6 2074 genome.wustl.edu GRCh37 10 50708699 50708699 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355832.5:c.1570C>T p.Gln524Ter p.Q524* ENST00000355832 NM_000124.3 524 Cag/Tag 0 Nonsense_Mutation G 47 ERCC6 SNP 10 G A 50378705 50378705 WashU ALAS1 211 genome.wustl.edu GRCh37 3 52239987 52239987 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394965.2:c.933G>C p.Ser311= p.S311= ENST00000394965 NM_000688.5 311 tcG/tcC 0 Silent G 40 ALAS1 SNP 3 G C 52215027 52215027 WashU CA4 762 genome.wustl.edu GRCh37 17 58235707 58235708 + missense_variant Missense_Mutation DNP GG GG TC novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 GG GG GG TC GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300900.4:c.644_645delinsTC p.Arg215Ile p.R215I ENST00000300900 NM_000717.3 215 aGG/aTC 0 Missense GG 35 CA4 DNP 17 GG TC 55590490 55590489 WashU OR4D8P genome.wustl.edu GRCh37 11 59259427 59259427 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000431137.1:n.303G>A *101* ENST00000431137 0 Missense_Mutation G 48 ENSG00000204989 SNP 11 G A 59016003 59016003 WashU SLCO4A1 28231 genome.wustl.edu GRCh37 20 61291851 61291851 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000217159.1:c.975C>T p.Ala325= p.A325= ENST00000217159 NM_016354.3 325 gcC/gcT 0 Silent C 23 SLCO4A1 SNP 20 C T 60762296 60762296 WashU ABCA6 23460 genome.wustl.edu GRCh37 17 67077281 67077281 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000284425.2:c.4622C>A p.Ser1541Tyr p.S1541Y ENST00000284425 NM_080284.2 1541 tCc/tAc 0 Missense_Mutation G 41 ABCA6 SNP 17 G T 64588876 64588876 WashU SLC28A3 64078 genome.wustl.edu GRCh37 9 86900443 86900443 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376238.4:c.1464C>T p.Tyr488= p.Y488= ENST00000376238 NM_001199633.1 488 taC/taT 0 Silent G 48 SLC28A3 SNP 9 G A 86090263 86090263 WashU MMRN1 22915 genome.wustl.edu GRCh37 4 90816148 90816148 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394980.1:c.26T>C p.Leu9Pro p.L9P ENST00000394980 9 cTt/cCt 0 Missense_Mutation T 56 MMRN1 SNP 4 T C 91035171 91035171 WashU FAT3 120114 genome.wustl.edu GRCh37 11 92532486 92532486 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298047.6:c.6307A>T p.Ile2103Phe p.I2103F ENST00000298047 2103 Att/Ttt 0 Missense_Mutation A 12 FAT3 SNP 11 A T 92172134 92172134 WashU ALCAM 214 genome.wustl.edu GRCh37 3 105268974 105268974 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306107.5:c.1378G>C p.Glu460Gln p.E460Q ENST00000306107 NM_001627.3 460 Gag/Cag 0 Missense_Mutation G 33 ALCAM SNP 3 G C 106751664 106751664 WashU CSMD3 114788 genome.wustl.edu GRCh37 8 113504881 113504881 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297405.5:c.5115C>A p.Gly1705= p.G1705= ENST00000297405 NM_198123.1 1705 ggC/ggA 0 Silent G 46 CSMD3 SNP 8 G T 113574057 113574057 WashU SEMA6A 57556 genome.wustl.edu GRCh37 5 115840593 115840593 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343348.6:c.48T>G p.Ala16= p.A16= ENST00000343348 NM_020796.3 16 gcT/gcG 0 Silent A 7 SEMA6A SNP 5 A C 115868492 115868492 WashU CCDC60 160777 genome.wustl.edu GRCh37 12 119916949 119916949 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327554.2:c.392G>A p.Arg131His p.R131H ENST00000327554 NM_178499.3 131 cGc/cAc 0 Missense_Mutation G 38 CCDC60 SNP 12 A A 118401332 118401332 WashU SLC13A1 6561 genome.wustl.edu GRCh37 7 122809297 122809297 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000194130.2:c.458C>T p.Ala153Val p.A153V ENST00000194130 NM_022444.3 153 gCt/gTt 0 Missense_Mutation G 34 SLC13A1 SNP 7 G A 122596533 122596533 WashU CNTRL 11064 genome.wustl.edu GRCh37 9 123931942 123931942 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373855.1:c.6124T>C p.Leu2042= p.L2042= ENST00000373855 2042 Ttg/Ctg 0 Silent T 60 CEP110 SNP 9 T C 122971763 122971763 WashU CCDC15 80071 genome.wustl.edu GRCh37 11 124857709 124857709 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344762.5:c.1587C>G p.Gly529= p.G529= ENST00000344762 NM_025004.2 529 ggC/ggG 0 Silent C 26 CCDC15 SNP 11 C G 124362919 124362919 WashU RABGAP1 23637 genome.wustl.edu GRCh37 9 125746949 125746949 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373647.4:c.336A>C p.Val112= p.V112= ENST00000373647 NM_012197.3 112 gtA/gtC 0 Silent A 15 RABGAP1 SNP 9 A C 124786770 124786770 WashU MRPS21P6 genome.wustl.edu GRCh37 10 126855431 126855431 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000415184.1:n.186G>T *62* ENST00000415184 0 Silent G 45 ENSG00000214298 SNP 10 G T 126845421 126845421 WashU POLE 5426 genome.wustl.edu GRCh37 12 133201504 133201504 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000320574.5:c.6734C>A p.Thr2245Asn p.T2245N ENST00000320574 NM_006231.2 2245 aCc/aAc 0 Missense_Mutation G 44 POLE SNP 12 G T 131711577 131711577 WashU TMEM71 137835 genome.wustl.edu GRCh37 8 133764058 133764058 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356838.3:c.287G>C p.Ser96Thr p.S96T ENST00000356838 NM_144649.2 96 aGc/aCc 0 Missense_Mutation C 28 TMEM71 SNP 8 C G 133833240 133833240 WashU SYCE1 93426 genome.wustl.edu GRCh37 10 135369332 135369332 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343131.5:c.671C>A p.Thr224Asn p.T224N ENST00000343131 NM_001143764.1 224 aCc/aAc 0 Missense_Mutation G 44 SYCE1 SNP 10 T T 135219322 135219322 WashU GPR112 139378 genome.wustl.edu GRCh37 X 135428708 135428708 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394143.1:c.2843G>A p.Gly948Glu p.G948E ENST00000394143 NM_153834.3 948 gGa/gAa 0 Missense_Mutation G 41 GPR112 SNP 23 G A 135256374 135256374 WashU RYK 6259 genome.wustl.edu GRCh37 3 133907752 133907752 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296084.4:c.1034T>C p.Ile345Thr p.I345T ENST00000296084 NM_001005861.2 345 aTt/aCt 0 Missense_Mutation A 4 RYK SNP 3 A G 135390442 135390442 WashU HIVEP2 3097 genome.wustl.edu GRCh37 6 143095406 143095406 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367603.2:c.470G>A p.Ser157Asn p.S157N ENST00000367603 NM_006734.3 157 aGt/aAt 0 Missense_Mutation C 20 HIVEP2 SNP 6 C T 143137099 143137099 WashU ZNF16 7564 genome.wustl.edu GRCh37 8 146157869 146157869 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276816.4:c.304C>T p.Gln102Ter p.Q102* ENST00000276816 NM_001029976.2 102 Cag/Tag 0 Nonsense_Mutation G 47 ZNF16 SNP 8 G A 146128673 146128673 WashU GOLPH3L 55204 genome.wustl.edu GRCh37 1 150634360 150634360 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271732.3:c.360T>A p.Asp120Glu p.D120E ENST00000271732 NM_018178.5 120 gaT/gaA 0 Missense_Mutation A 8 GOLPH3L SNP 1 A T 148900984 148900984 WashU TCOF1 6949 genome.wustl.edu GRCh37 5 149771583 149771583 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000504761.2:c.3361G>A p.Gly1121Arg p.G1121R ENST00000504761 1121 Ggg/Agg 0 Missense_Mutation G 35 TCOF1 SNP 5 G A 149751776 149751776 WashU RASAL2 9462 genome.wustl.edu GRCh37 1 178420710 178420710 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367649.3:c.1632G>C p.Glu544Asp p.E544D ENST00000367649 544 gaG/gaC 0 Missense_Mutation G 36 RASAL2 SNP 1 G C 176687333 176687333 WashU RGS8 85397 genome.wustl.edu GRCh37 1 182617331 182617331 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258302.4:c.355C>G p.Leu119Val p.L119V ENST00000258302 NM_033345.2 119 Ctg/Gtg 0 Missense_Mutation G 36 RGS8 SNP 1 G C 180883954 180883954 WashU RGL1 23179 genome.wustl.edu GRCh37 1 183816732 183816732 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304685.4:c.276A>G p.Thr92= p.T92= ENST00000304685 NM_015149.3 92 acA/acG 0 Silent A 7 RGL1 SNP 1 A G 182083355 182083355 WashU SLC25A4 291 genome.wustl.edu GRCh37 4 186066369 186066369 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000281456.6:c.563G>A p.Arg188Lys p.R188K ENST00000281456 NM_001151.3 188 aGa/aAa 0 Missense_Mutation G 33 SLC25A4 SNP 4 G A 186303363 186303363 WashU RGS18 64407 genome.wustl.edu GRCh37 1 192128428 192128428 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367460.3:c.198T>G p.Ser66= p.S66= ENST00000367460 NM_130782.2 66 tcT/tcG 0 Silent T 55 RGS18 SNP 1 T G 190395051 190395051 WashU BOLL 66037 genome.wustl.edu GRCh37 2 198646522 198646522 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321801.7:c.89T>C p.Leu30Ser p.L30S ENST00000321801 NM_197970.2 30 tTg/tCg 0 Missense_Mutation A 5 BOLL SNP 2 A G 198354767 198354767 WashU FCAMR 83953 genome.wustl.edu GRCh37 1 207140975 207140975 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324852.4:c.61G>C p.Glu21Gln p.E21Q ENST00000324852 NM_001170631.1 21 Gaa/Caa 0 Missense_Mutation C 32 FCAMR SNP 1 C G 205207598 205207598 WashU CR1 1378 genome.wustl.edu GRCh37 1 207785120 207785120 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367049.4:c.6394A>T p.Ser2132Cys p.S2132C ENST00000367049 NM_000651.4 2132 Agc/Tgc 0 Missense_Mutation A 7 CR1 SNP 1 A T 205851743 205851743 WashU TRPM8 79054 genome.wustl.edu GRCh37 2 234862615 234862616 + missense_variant Missense_Mutation DNP GC GC AT novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 GC GC GC AT GC GC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324695.4:c.1195_1196delinsAT p.Ala399Ile p.A399I ENST00000324695 NM_024080.4 399 GCt/ATt 0 Missense GC 34 TRPM8 DNP 2 GC AT 234527355 234527354 WashU F2 2147 genome.wustl.edu GRCh37 11 46747441 46747441 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1104-01 TCGA-24-1104-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311907.5:c.592C>T p.Arg198Cys p.R198C ENST00000311907 NM_000506.3 198 Cgc/Tgc 0 Missense_Mutation C 19 F2 SNP 11 C T 46704017 46704017 WashU BZW2 28969 genome.wustl.edu GRCh37 7 16734485 16734496 + inframe_deletion In_Frame_Del DEL TGTGGATCATTT TGTGGATCATTT - Unknown TCGA-24-1104-01 TCGA-24-1104-10 TGTGGATCATTT TGTGGATCATTT TGTGGATCATTT - TGTGGATCATTT TGTGGATCATTT Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000433922.2:c.680_691del p.Val227_Phe230del p.V227_F230del ENST00000433922 NM_001159767.1 226 agTGTGGATCATTTt/agt 0 In_Frame_Del TGTGGATCATTT 59 BZW2 DEL 7 TGTGGATCATTT - 16701021 16701010 WashU DNAJC6 9829 broad.mit.edu GRCh37 1 65858546 65858546 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000371069.4:c.1901A>G p.Glu634Gly p.E634G ENST00000371069 NM_001256864.1 634 gAa/gGa 0 Missense_Mutation A 9 DNAJC6 SNP 1 A G 65631134 65631134 Broad HMGCS2 3158 broad.mit.edu GRCh37 1 120306817 120306817 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000369406.3:c.537G>A p.Trp179Ter p.W179* ENST00000369406 NM_005518.3 179 tgG/tgA 0 Nonsense_Mutation C 30 HMGCS2 SNP 1 C T 120108340 120108340 Broad PDE4DIP 9659 broad.mit.edu GRCh37 1 144879283 144879283 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000369356.4:c.4167G>T p.Ser1389= p.S1389= ENST00000369356 NM_014644.5 1389 tcG/tcT 0 Silent C 19 PDE4DIP SNP 1 C A 143590640 143590640 Broad NBPF16 728936 broad.mit.edu GRCh37 1 148754895 148754895 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000417839.1:c.1551A>G p.Arg517= p.R517= ENST00000417839 NM_001102663.1 517 agA/agG 0 Silent A 12 NBPF16 SNP 1 A G 147021519 147021519 Broad FCGR1A 2209 broad.mit.edu GRCh37 1 149761787 149761788 + missense_variant Missense_Mutation DNP AA AA CG novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000369168.4:c.737_738delinsCG p.Gln246Pro p.Q246P ENST00000369168 NM_000566.3 246 cAA/cCG 0 Missense_Mutation AA 5 FCGR1A DNP 1 AA CG 148028412 148028411 Broad SELE 6401 broad.mit.edu GRCh37 1 169696594 169696594 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000333360.7:c.1541C>G p.Thr514Ser p.T514S ENST00000333360 NM_000450.2 514 aCt/aGt 0 Missense_Mutation G 36 SELE SNP 1 G C 167963218 167963218 Broad BTG2 7832 broad.mit.edu GRCh37 1 203274737 203274737 + start_lost Translation_Start_Site SNP G G A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000290551.4:c.3G>A p.Met1? p.M1? ENST00000290551 NM_006763.2 1 atG/atA 0 Missense_Mutation G 45 BTG2 SNP 1 G A 201541360 201541360 Broad NFASC 23114 broad.mit.edu GRCh37 1 204953226 204953226 + intron_variant Intron SNP C C T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000339876.6:c.2470+2078C>T *824* ENST00000339876 NM_001005388.2 0 Missense_Mutation C 23 NFASC SNP 1 C T 203219849 203219849 Broad GPATCH2 55105 broad.mit.edu GRCh37 1 217688226 217688226 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000366935.3:c.1104C>A p.Pro368= p.P368= ENST00000366935 NM_018040.2 368 ccC/ccA 0 Silent G 47 GPATCH2 SNP 1 G T 215754849 215754849 Broad PARP1 142 broad.mit.edu GRCh37 1 226566920 226566920 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000366794.5:c.1668C>T p.Thr556= p.T556= ENST00000366794 NM_001618.3 556 acC/acT 0 Silent G 43 PARP1 SNP 1 G A 224633543 224633543 Broad HK1 3098 broad.mit.edu GRCh37 10 71119673 71119673 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000404387.2:c.259C>G p.Leu87Val p.L87V ENST00000404387 87 Ctg/Gtg 0 Missense_Mutation C 24 HK1 SNP 10 C G 70789679 70789679 Broad ODF3 113746 broad.mit.edu GRCh37 11 197577 197577 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000325113.4:c.126G>A p.Thr42= p.T42= ENST00000325113 NM_053280.3 42 acG/acA 0 Silent G 38 ODF3 SNP 11 G A 187577 187577 Broad NELL1 4745 broad.mit.edu GRCh37 11 21135138 21135138 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000357134.5:c.1304T>A p.Ile435Asn p.I435N ENST00000357134 NM_201551.1 435 aTt/aAt 0 Missense_Mutation T 52 NELL1 SNP 11 T A 21091714 21091714 Broad MYBPC3 4607 broad.mit.edu GRCh37 11 47354410 47354410 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000545968.1:c.3445G>A p.Asp1149Asn p.D1149N ENST00000545968 NM_000256.3 1149 Gac/Aac 0 Missense_Mutation C 29 MYBPC3 SNP 11 C T 47310986 47310986 Broad SLC29A2 3177 broad.mit.edu GRCh37 11 66130950 66130950 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000531602.1:c.199G>T p.Glu67Ter p.E67* ENST00000531602 67 Gaa/Taa 0 Missense_Mutation G 41 SLC29A2 SNP 11 G T 65887526 65887526 Broad BBS1 582 broad.mit.edu GRCh37 11 66299139 66299139 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000318312.7:c.1621G>C p.Val541Leu p.V541L ENST00000318312 NM_024649.4 541 Gtg/Ctg 0 Missense_Mutation G 44 BBS1 SNP 11 G C 66055715 66055715 Broad SORL1 6653 broad.mit.edu GRCh37 11 121414435 121414435 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000260197.7:c.1864G>T p.Gly622Ter p.G622* ENST00000260197 NM_003105.5 622 Gga/Tga 0 Nonsense_Mutation G 43 SORL1 SNP 11 G T 120919645 120919645 Broad OR10G4 390264 broad.mit.edu GRCh37 11 123887171 123887171 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000320891.4:c.890C>T p.Ala297Val p.A297V ENST00000320891 NM_001004462.1 297 gCt/gTt 0 Missense_Mutation C 28 OR10G4 SNP 11 C T 123392381 123392381 Broad SLC2A3 6515 broad.mit.edu GRCh37 12 8084025 8084025 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000075120.7:c.326G>T p.Gly109Val p.G109V ENST00000075120 NM_006931.2 109 gGa/gTa 0 Missense_Mutation C 30 SLC2A3 SNP 12 C A 7975292 7975292 Broad ST8SIA1 6489 broad.mit.edu GRCh37 12 22487101 22487101 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000396037.4:c.66G>C p.Lys22Asn p.K22N ENST00000396037 NM_003034.3 22 aaG/aaC 0 Missense_Mutation C 20 ST8SIA1 SNP 12 C G 22378368 22378368 Broad MAP3K12 7786 broad.mit.edu GRCh37 12 53875792 53875792 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000547035.1:c.2513C>T p.Ser838Leu p.S838L ENST00000547035 838 tCa/tTa 0 Missense_Mutation G 45 MAP3K12 SNP 12 G A 52162059 52162059 Broad XPOT 11260 broad.mit.edu GRCh37 12 64827256 64827256 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000332707.5:c.2325G>C p.Val775= p.V775= ENST00000332707 NM_007235.4 775 gtG/gtC 0 Silent G 46 XPOT SNP 12 G C 63113523 63113523 Broad SERPINE3 647174 broad.mit.edu GRCh37 13 51921272 51921272 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000521255.1:c.602G>T p.Arg201Ile p.R201I ENST00000521255 NM_001101320.1 201 aGa/aTa 0 Missense_Mutation G 33 SERPINE3 SNP 13 G T 50819273 50819273 Broad NEK3 4752 broad.mit.edu GRCh37 13 52709937 52709937 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000400357.2:c.1186G>T p.Asp396Tyr p.D396Y ENST00000400357 396 Gac/Tac 0 Missense_Mutation C 29 NEK3 SNP 13 C A 51607938 51607938 Broad OR4K13 390433 broad.mit.edu GRCh37 14 20502054 20502054 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000315693.2:c.864A>G p.Thr288= p.T288= ENST00000315693 NM_001004714.1 288 acA/acG 0 Silent T 51 OR4K13 SNP 14 T C 19571894 19571894 Broad FANCM 57697 broad.mit.edu GRCh37 14 45658222 45658222 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000267430.5:c.4997G>T p.Arg1666Ile p.R1666I ENST00000267430 NM_020937.2 1666 aGa/aTa 0 Missense_Mutation G 33 FANCM SNP 14 G T 44727972 44727972 Broad MKL2 57496 broad.mit.edu GRCh37 16 14340851 14340851 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000318282.5:c.1734G>C p.Glu578Asp p.E578D ENST00000318282 578 gaG/gaC 0 Missense_Mutation G 33 MKL2 SNP 16 G C 14248352 14248352 Broad CCDC135 84229 broad.mit.edu GRCh37 16 57762332 57762332 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000360716.3:c.2227C>A p.Gln743Lys p.Q743K ENST00000360716 743 Cag/Aag 0 Missense_Mutation C 25 CCDC135 SNP 16 C A 56319833 56319833 Broad OR1D5 8386 broad.mit.edu GRCh37 17 2966074 2966074 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000575751.1:c.828G>T p.Met276Ile p.M276I ENST00000575751 NM_014566.1 276 atG/atT 0 Missense_Mutation C 17 OR1D5 SNP 17 C A 2912824 2912824 Broad TP53 7157 broad.mit.edu GRCh37 17 7577124 7577124 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.814G>A p.Val272Met p.V272M ENST00000269305 NM_001126112.2 272 Gtg/Atg 0 Missense_Mutation C 18 TP53 SNP 17 C T 7517849 7517849 Broad GRB2 2885 broad.mit.edu GRCh37 17 73317818 73317818 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000392562.1:c.390G>C p.Glu130Asp p.E130D ENST00000392562 130 gaG/gaC 0 Missense_Mutation C 28 GRB2 SNP 17 C G 70829413 70829413 Broad GAA 2548 broad.mit.edu GRCh37 17 78092558 78092558 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000302262.3:c.2753C>A p.Ser918Tyr p.S918Y ENST00000302262 NM_000152.3 918 tCc/tAc 0 Missense_Mutation C 30 GAA SNP 17 C A 75707153 75707153 Broad OGFOD3 79701 broad.mit.edu GRCh37 17 80373329 80373329 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000329197.5:c.249G>A p.Gly83= p.G83= ENST00000329197 83 ggG/ggA 0 Silent C 30 C17orf101 SNP 17 C T 77966618 77966618 Broad MUC16 94025 broad.mit.edu GRCh37 19 9087663 9087663 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000397910.4:c.4152G>T p.Trp1384Cys p.W1384C ENST00000397910 NM_024690.2 1384 tgG/tgT 0 Missense_Mutation C 30 MUC16 SNP 19 C A 8948663 8948663 Broad CCDC159 126075 broad.mit.edu GRCh37 19 11462591 11462591 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000588790.1:c.432C>T p.Phe144= p.F144= ENST00000588790 144 ttC/ttT 0 Silent C 30 LOC126075 SNP 19 C T 11323591 11323591 Broad CHST8 64377 broad.mit.edu GRCh37 19 34180169 34180169 + start_lost Translation_Start_Site SNP T T A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000262622.4:c.2T>A p.Met1? p.M1? ENST00000262622 NM_022467.3 1 aTg/aAg 0 Missense_Mutation T 51 CHST8 SNP 19 T A 38872009 38872009 Broad ARHGAP35 2909 broad.mit.edu GRCh37 19 47424886 47424886 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000404338.3:c.2954C>G p.Ser985Ter p.S985* ENST00000404338 NM_004491.4 985 tCa/tGa 0 Nonsense_Mutation C 29 GRLF1 SNP 19 C G 52116726 52116726 Broad IRF3 3661 broad.mit.edu GRCh37 19 50166630 50166630 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000601291.1:c.307C>T p.Pro103Ser p.P103S ENST00000601291 103 Cca/Tca 0 Missense_Mutation G 43 IRF3 SNP 19 G A 54858442 54858442 Broad AP2A1 160 broad.mit.edu GRCh37 19 50285817 50285817 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000359032.5:c.309C>G p.Asn103Lys p.N103K ENST00000359032 NM_014203.2 103 aaC/aaG 0 Missense_Mutation C 20 AP2A1 SNP 19 C G 54977629 54977629 Broad SIGLEC12 89858 broad.mit.edu GRCh37 19 52001419 52001419 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000291707.3:c.1258C>G p.Leu420Val p.L420V ENST00000291707 NM_053003.2 420 Ctg/Gtg 0 Missense_Mutation G 35 SIGLEC12 SNP 19 G C 56693231 56693231 Broad POLR1A 25885 broad.mit.edu GRCh37 2 86255039 86255039 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000263857.6:c.5031C>T p.Ser1677= p.S1677= ENST00000263857 1677 agC/agT 0 Silent G 34 POLR1A SNP 2 G A 86108550 86108550 Broad DPP4 1803 broad.mit.edu GRCh37 2 162881409 162881409 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000360534.3:c.928A>G p.Arg310Gly p.R310G ENST00000360534 NM_001935.3 310 Aga/Gga 0 Missense_Mutation T 56 DPP4 SNP 2 T C 162589655 162589655 Broad XIRP2 129446 broad.mit.edu GRCh37 2 168101375 168101375 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000409195.1:c.3473A>T p.Gln1158Leu p.Q1158L ENST00000409195 NM_152381.5 1158 cAa/cTa 0 Missense_Mutation A 5 XIRP2 SNP 2 A T 167809621 167809621 Broad MYO3B 140469 broad.mit.edu GRCh37 2 171356174 171356174 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000408978.4:c.3145C>G p.His1049Asp p.H1049D ENST00000408978 NM_138995.4 1049 Cat/Gat 0 Missense_Mutation C 21 MYO3B SNP 2 C G 171064420 171064420 Broad COL3A1 1281 broad.mit.edu GRCh37 2 189875582 189875582 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000304636.3:c.4220A>G p.Lys1407Arg p.K1407R ENST00000304636 NM_000090.3 1407 aAa/aGa 0 Missense_Mutation A 1 COL3A1 SNP 2 A G 189583827 189583827 Broad TMEM169 92691 broad.mit.edu GRCh37 2 216960853 216960853 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000454545.1:c.167G>A p.Arg56His p.R56H ENST00000454545 NM_001142310.1 56 cGc/cAc 0 Missense_Mutation G 38 TMEM169 SNP 2 G A 216669098 216669098 Broad WNT6 7475 broad.mit.edu GRCh37 2 219736293 219736293 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000233948.3:c.388C>A p.Leu130Met p.L130M ENST00000233948 NM_006522.3 130 Ctg/Atg 0 Missense_Mutation C 28 WNT6 SNP 2 C A 219444537 219444537 Broad CUL3 8452 broad.mit.edu GRCh37 2 225400349 225400349 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000264414.4:c.274G>C p.Asp92His p.D92H ENST00000264414 NM_003590.4 92 Gat/Cat 0 Missense_Mutation C 32 CUL3 SNP 2 C G 225108593 225108593 Broad MC3R 4159 broad.mit.edu GRCh37 20 54824097 54824097 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000243911.2:c.198C>T p.Asn66= p.N66= ENST00000243911 NM_019888.3 66 aaC/aaT 0 Silent C 19 MC3R SNP 20 C T 54257504 54257504 Broad DIDO1 11083 broad.mit.edu GRCh37 20 61511133 61511133 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000266070.4:c.6175C>G p.Pro2059Ala p.P2059A ENST00000266070 NM_033081.2 2059 Ccc/Gcc 0 Missense_Mutation G 43 DIDO1 SNP 20 G C 60981578 60981578 Broad NCAM2 4685 broad.mit.edu GRCh37 21 22841054 22841054 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000400546.1:c.1846C>A p.Gln616Lys p.Q616K ENST00000400546 NM_004540.3 616 Cag/Aag 0 Missense_Mutation C 17 NCAM2 SNP 21 C A 21762925 21762925 Broad COL6A2 1292 broad.mit.edu GRCh37 21 47545812 47545812 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000300527.4:c.2083G>C p.Glu695Gln p.E695Q ENST00000300527 NM_001849.3 695 Gag/Cag 0 Missense_Mutation G 37 COL6A2 SNP 21 G C 46370240 46370240 Broad SF3A1 10291 broad.mit.edu GRCh37 22 30731718 30731718 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000215793.8:c.2131G>T p.Val711Leu p.V711L ENST00000215793 NM_005877.4 711 Gtg/Ttg 0 Missense_Mutation C 18 SF3A1 SNP 22 C A 29061718 29061718 Broad TUBGCP6 85378 broad.mit.edu GRCh37 22 50659452 50659452 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000248846.5:c.3336C>T p.Asn1112= p.N1112= ENST00000248846 1112 aaC/aaT 0 Silent G 40 TUBGCP6 SNP 22 G A 49001579 49001579 Broad BSN 8927 broad.mit.edu GRCh37 3 49700363 49700363 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000296452.4:c.10772G>A p.Arg3591His p.R3591H ENST00000296452 NM_003458.3 3591 cGc/cAc 0 Missense_Mutation G 38 BSN SNP 3 G A 49675367 49675367 Broad ITIH1 3697 broad.mit.edu GRCh37 3 52812454 52812454 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000273283.2:c.237C>A p.Ala79= p.A79= ENST00000273283 NM_002215.3 79 gcC/gcA 0 Silent C 21 ITIH1 SNP 3 C A 52787494 52787494 Broad ZNF654 55279 broad.mit.edu GRCh37 3 88188630 88188630 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000309495.5:c.170C>T p.Ala57Val p.A57V ENST00000309495 NM_018293.2 57 gCt/gTt 0 Missense_Mutation C 28 ZNF654 SNP 3 C T 88271320 88271320 Broad KIAA1524 57650 broad.mit.edu GRCh37 3 108282018 108282018 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000295746.8:c.1589G>C p.Arg530Thr p.R530T ENST00000295746 NM_020890.2 530 aGa/aCa 0 Missense_Mutation C 32 KIAA1524 SNP 3 C G 109764708 109764708 Broad GOLGB1 2804 broad.mit.edu GRCh37 3 121410361 121410361 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000393667.3:c.7850C>T p.Ser2617Phe p.S2617F ENST00000393667 NM_001256486.1 2617 tCc/tTc 0 Missense_Mutation G 41 GOLGB1 SNP 3 G A 122893051 122893051 Broad FETUB 26998 broad.mit.edu GRCh37 3 186358839 186358839 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000265029.3:c.246C>G p.Phe82Leu p.F82L ENST00000265029 NM_014375.2 82 ttC/ttG 0 Missense_Mutation C 32 FETUB SNP 3 C G 187841533 187841533 Broad MAEA 10296 broad.mit.edu GRCh37 4 1305928 1305928 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000303400.4:c.231G>C p.Lys77Asn p.K77N ENST00000303400 NM_001017405.1 77 aaG/aaC 0 Missense_Mutation G 34 MAEA SNP 4 G C 1295928 1295928 Broad PDGFRA 5156 broad.mit.edu GRCh37 4 55138615 55138615 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000257290.5:c.1292A>G p.Gln431Arg p.Q431R ENST00000257290 NM_006206.4 431 cAg/cGg 0 Missense_Mutation A 7 PDGFRA SNP 4 A G 54833372 54833372 Broad TACR3 6870 broad.mit.edu GRCh37 4 104511133 104511133 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000304883.2:c.1104G>C p.Lys368Asn p.K368N ENST00000304883 NM_001059.2 368 aaG/aaC 0 Missense_Mutation C 32 TACR3 SNP 4 C G 104730582 104730582 Broad MFSD8 256471 broad.mit.edu GRCh37 4 128863278 128863278 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000296468.3:c.475G>A p.Ala159Thr p.A159T ENST00000296468 NM_152778.2 159 Gct/Act 0 Missense_Mutation C 25 MFSD8 SNP 4 C T 129082728 129082728 Broad TBCA 6902 broad.mit.edu GRCh37 5 76989143 76989143 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000380377.4:c.194C>G p.Pro65Arg p.P65R ENST00000380377 NM_004607.2 65 cCa/cGa 0 Missense_Mutation G 47 TBCA SNP 5 G C 77024899 77024899 Broad APC 324 broad.mit.edu GRCh37 5 112175577 112175577 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000257430.4:c.4286A>G p.Gln1429Arg p.Q1429R ENST00000257430 NM_000038.5 1429 cAa/cGa 0 Missense_Mutation A 5 APC SNP 5 A G 112203476 112203476 Broad MCC 4163 broad.mit.edu GRCh37 5 112487091 112487091 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000408903.3:c.656A>T p.Lys219Met p.K219M ENST00000408903 NM_001085377.1 219 aAg/aTg 0 Missense_Mutation T 56 MCC SNP 5 T A 112514990 112514990 Broad SLC4A9 83697 broad.mit.edu GRCh37 5 139743706 139743706 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000230993.6:c.1394C>G p.Pro465Arg p.P465R ENST00000230993 NM_001258428.1 465 cCc/cGc 0 Missense_Mutation C 22 SLC4A9 SNP 5 C G 139723890 139723890 Broad APBB3 10307 broad.mit.edu GRCh37 5 139941196 139941196 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000354402.5:c.744T>A p.Ser248Arg p.S248R ENST00000354402 248 agT/agA 0 Missense_Mutation A 6 APBB3 SNP 5 A T 139921380 139921380 Broad PCDHB11 56125 broad.mit.edu GRCh37 5 140579766 140579766 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000354757.3:c.419T>C p.Leu140Pro p.L140P ENST00000354757 NM_018931.2 140 cTa/cCa 0 Missense_Mutation T 53 PCDHB11 SNP 5 T C 140559950 140559950 Broad PCDHGA10 56106 broad.mit.edu GRCh37 5 140793949 140793949 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000398610.2:c.1207G>C p.Asp403His p.D403H ENST00000398610 NM_018913.2 403 Gac/Cac 0 Missense_Mutation G 45 PCDHGA10 SNP 5 G C 140774133 140774133 Broad CAGE1 285782 broad.mit.edu GRCh37 6 7373686 7373686 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000502583.1:c.1366C>T p.Gln456Ter p.Q456* ENST00000502583 NM_001170692.1 456 Caa/Taa 0 Nonsense_Mutation G 48 CAGE1 SNP 6 G A 7318685 7318685 Broad NOTCH4 4855 broad.mit.edu GRCh37 6 32163801 32163801 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000375023.3:c.5425C>A p.Gln1809Lys p.Q1809K ENST00000375023 NM_004557.3 1809 Caa/Aaa 0 Missense_Mutation G 47 NOTCH4 SNP 6 G T 32271779 32271779 Broad MDN1 23195 broad.mit.edu GRCh37 6 90368337 90368337 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000369393.3:c.15013C>T p.Gln5005Ter p.Q5005* ENST00000369393 5005 Cag/Tag 0 Nonsense_Mutation G 47 MDN1 SNP 6 G A 90425058 90425058 Broad ASL 435 broad.mit.edu GRCh37 7 65557600 65557600 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000304874.9:c.1200C>G p.Thr400= p.T400= ENST00000304874 NM_000048.3 400 acC/acG 0 Silent C 21 ASL SNP 7 C G 65195035 65195035 Broad CPED1 79974 broad.mit.edu GRCh37 7 120767266 120767266 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000310396.5:c.1257A>T p.Ile419= p.I419= ENST00000310396 NM_024913.4 419 atA/atT 0 Silent A 16 C7orf58 SNP 7 A T 120554502 120554502 Broad TAS2R40 259286 broad.mit.edu GRCh37 7 142919714 142919714 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000408947.3:c.543G>A p.Thr181= p.T181= ENST00000408947 NM_176882.1 181 acG/acA 0 Silent G 39 TAS2R40 SNP 7 G A 142629836 142629836 Broad DCTN6 10671 broad.mit.edu GRCh37 8 30032648 30032648 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000221114.3:c.136G>A p.Gly46Arg p.G46R ENST00000221114 NM_006571.3 46 Ggg/Agg 0 Missense_Mutation G 39 DCTN6 SNP 8 G A 30152190 30152190 Broad RB1CC1 9821 broad.mit.edu GRCh37 8 53555017 53555017 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000025008.5:c.4231G>T p.Gly1411Ter p.G1411* ENST00000025008 NM_014781.4 1411 Gga/Tga 0 Nonsense_Mutation C 21 RB1CC1 SNP 8 C A 53717570 53717570 Broad CSMD3 114788 broad.mit.edu GRCh37 8 113277815 113277815 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000297405.5:c.9513C>A p.Ile3171= p.I3171= ENST00000297405 NM_198123.1 3171 atC/atA 0 Silent G 45 CSMD3 SNP 8 G T 113346991 113346991 Broad DENND4C 55667 broad.mit.edu GRCh37 9 19346478 19346478 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000602925.1:c.3564T>G p.Ile1188Met p.I1188M ENST00000602925 NM_017925.5 1188 atT/atG 0 Missense_Mutation T 63 DENND4C SNP 9 T G 19336478 19336478 Broad UNC13B 10497 broad.mit.edu GRCh37 9 35386219 35386219 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000378495.3:c.2776G>T p.Ala926Ser p.A926S ENST00000378495 NM_006377.3 926 Gcc/Tcc 0 Missense_Mutation G 42 UNC13B SNP 9 G T 35376219 35376219 Broad OR1N2 138882 broad.mit.edu GRCh37 9 125316167 125316167 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000373688.2:c.719G>T p.Trp240Leu p.W240L ENST00000373688 NM_001004457.1 240 tGg/tTg 0 Missense_Mutation G 47 OR1N2 SNP 9 G T 124355988 124355988 Broad PMPCA 23203 broad.mit.edu GRCh37 9 139311576 139311576 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000371717.3:c.807G>C p.Lys269Asn p.K269N ENST00000371717 NM_015160.1 269 aaG/aaC 0 Missense_Mutation G 36 PMPCA SNP 9 G C 138431397 138431397 Broad GPR82 27197 broad.mit.edu GRCh37 X 41586609 41586609 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000302548.4:c.330A>C p.Leu110Phe p.L110F ENST00000302548 NM_080817.4 110 ttA/ttC 0 Missense_Mutation A 13 GPR82 SNP 23 A C 41471553 41471553 Broad GSPT2 23708 broad.mit.edu GRCh37 X 51486770 51486770 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown x x x ENST00000340438.4:c.48C>T p.Asp16= p.D16= ENST00000340438 NM_018094.4 16 gaC/gaT 0 Silent C 18 GSPT2 SNP 23 C T 51503510 51503510 Broad TMOD2 29767 broad.mit.edu GRCh37 15 52090499 52090499 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000249700.4:c.838del p.Glu280LysfsTer5 p.E280Kfs*5 ENST00000249700 NM_001142885.1 280 Gaa/aa 0 Frame_Shift_Del G 33 TMOD2 DEL 15 - G 49877791 49877791 Broad MLLT6 4302 broad.mit.edu GRCh37 17 36872810 36872812 + inframe_deletion In_Frame_Del DEL CTC CTC - novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000325718.7:c.1228_1230del p.Ser410del p.S410del ENST00000325718 NM_005937.3 409 ttCTCc/ttc 0 In_Frame_Del CTC 32 MLLT6 DEL 17 - CTC 34126338 34126336 Broad BAAT 570 broad.mit.edu GRCh37 9 104130402 104130403 + frameshift_variant,splice_region_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-24-2024-01 TCGA-24-2024-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000259407.2:c.668dup p.Val224GlyfsTer35 p.V224Gfs*35 ENST00000259407 NM_001127610.1 223 aag/aaAg 0 Frame_Shift_Ins - 24 BAAT INS 9 T - 103170224 103170223 Broad SPEN 23013 broad.mit.edu GRCh37 1 16261097 16261097 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000375759.3:c.8362G>C p.Gly2788Arg p.G2788R ENST00000375759 NM_015001.2 2788 Ggg/Cgg 0 Missense_Mutation G 35 SPEN SNP 1 G C 16133684 16133684 Broad USP48 84196 broad.mit.edu GRCh37 1 22048168 22048168 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000308271.9:c.1738A>T p.Asn580Tyr p.N580Y ENST00000308271 NM_032236.5 580 Aat/Tat 0 Missense_Mutation T 61 USP48 SNP 1 T A 21920755 21920755 Broad OPRD1 4985 broad.mit.edu GRCh37 1 29189708 29189708 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000234961.2:c.1032C>G p.Ser344Arg p.S344R ENST00000234961 NM_000911.3 344 agC/agG 0 Missense_Mutation C 28 OPRD1 SNP 1 C G 29062295 29062295 Broad CSMD2 114784 broad.mit.edu GRCh37 1 34498193 34498193 + splice_donor_variant,NMD_transcript_variant Splice_Site SNP A A C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000241312.4:c.397+2T>G p.X133_splice ENST00000241312 0 Splice_Site_SNP A 14 CSMD2 SNP 1 A C 34270780 34270780 Broad MFSD2A 84879 broad.mit.edu GRCh37 1 40434419 40434419 + splice_donor_variant Splice_Site SNP T T G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000372809.5:c.1568+2T>G p.X523_splice ENST00000372809 NM_001136493.1 0 Splice_Site_SNP T 59 MFSD2A SNP 1 T G 40207006 40207006 Broad GSTM5 2949 broad.mit.edu GRCh37 1 110257751 110257751 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000256593.3:c.457-1G>A p.X153_splice ENST00000256593 NM_000851.3 0 Splice_Site_SNP G 33 GSTM5 SNP 1 G A 110059274 110059274 Broad SELP 6403 broad.mit.edu GRCh37 1 169562907 169562907 + synonymous_variant Silent SNP A A G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000263686.6:c.2343T>C p.Ser781= p.S781= ENST00000263686 NM_003005.3 781 tcT/tcC 0 Silent A 15 SELP SNP 1 A G 167829531 167829531 Broad ZBTB37 84614 broad.mit.edu GRCh37 1 173839617 173839617 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000367701.5:c.254C>A p.Ser85Tyr p.S85Y ENST00000367701 85 tCt/tAt 0 Missense_Mutation C 32 ZBTB37 SNP 1 C A 172106240 172106240 Broad CACNA1E 777 broad.mit.edu GRCh37 1 181702679 181702679 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000367573.2:c.3055G>A p.Val1019Met p.V1019M ENST00000367573 NM_001205293.1 1019 Gtg/Atg 0 Missense_Mutation G 40 CACNA1E SNP 1 G A 179969302 179969302 Broad EDEM3 80267 broad.mit.edu GRCh37 1 184663448 184663448 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000318130.8:c.2548G>A p.Ala850Thr p.A850T ENST00000318130 NM_025191.3 850 Gca/Aca 0 Missense_Mutation C 28 EDEM3 SNP 1 C T 182930071 182930071 Broad HMCN1 83872 broad.mit.edu GRCh37 1 185956618 185956618 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000271588.4:c.2990C>T p.Pro997Leu p.P997L ENST00000271588 NM_031935.2 997 cCa/cTa 0 Missense_Mutation C 21 HMCN1 SNP 1 C T 184223241 184223241 Broad CRB1 23418 broad.mit.edu GRCh37 1 197316487 197316487 + missense_variant Missense_Mutation SNP C C T rs62636263 Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000367400.3:c.866C>T p.Thr289Met p.T289M ENST00000367400 NM_201253.2 289 aCg/aTg 0 Missense_Mutation C 19 CRB1 SNP 1 C T 195583110 195583110 Broad RRP15 51018 broad.mit.edu GRCh37 1 218478382 218478382 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000366932.3:c.418C>A p.Leu140Met p.L140M ENST00000366932 NM_016052.3 140 Ctg/Atg 0 Missense_Mutation C 28 RRP15 SNP 1 C A 216545005 216545005 Broad HLX 3142 broad.mit.edu GRCh37 1 221055541 221055541 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000366903.6:c.808C>G p.Gln270Glu p.Q270E ENST00000366903 NM_021958.3 270 Cag/Gag 0 Missense_Mutation C 25 HLX SNP 1 C G 219122164 219122164 Broad OR2T2 401992 broad.mit.edu GRCh37 1 248617013 248617013 + synonymous_variant Silent SNP A A C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000342927.3:c.915A>C p.Val305= p.V305= ENST00000342927 NM_001004136.1 305 gtA/gtC 0 Silent A 14 OR2T2 SNP 1 A C 246683636 246683636 Broad CALML5 51806 broad.mit.edu GRCh37 10 5541328 5541328 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000380332.3:c.74A>G p.Asn25Ser p.N25S ENST00000380332 NM_017422.4 25 aAc/aGc 0 Missense_Mutation T 60 CALML5 SNP 10 T C 5531328 5531328 Broad PRKCQ 5588 broad.mit.edu GRCh37 10 6470302 6470302 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000263125.5:c.1988A>G p.Asn663Ser p.N663S ENST00000263125 NM_006257.3 663 aAt/aGt 0 Missense_Mutation T 52 PRKCQ SNP 10 T C 6510308 6510308 Broad OGDHL 55753 broad.mit.edu GRCh37 10 50953874 50953874 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000374103.4:c.1446C>T p.Asn482= p.N482= ENST00000374103 NM_018245.2 482 aaC/aaT 0 Silent G 48 OGDHL SNP 10 G A 50623880 50623880 Broad JMJD1C 221037 broad.mit.edu GRCh37 10 64975081 64975081 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000399262.2:c.957C>T p.Ser319= p.S319= ENST00000399262 NM_032776.1 319 agC/agT 0 Silent G 46 JMJD1C SNP 10 G A 64645087 64645087 Broad TNKS1BP1 85456 broad.mit.edu GRCh37 11 57077421 57077421 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000532437.1:c.2764G>T p.Asp922Tyr p.D922Y ENST00000532437 922 Gat/Tat 0 Missense_Mutation C 30 TNKS1BP1 SNP 11 C A 56833997 56833997 Broad NXF1 10482 broad.mit.edu GRCh37 11 62571034 62571034 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000532297.1:c.226A>G p.Thr76Ala p.T76A ENST00000532297 76 Acc/Gcc 0 Missense_Mutation T 57 NXF1 SNP 11 T C 62327610 62327610 Broad LRP5 4041 broad.mit.edu GRCh37 11 68177498 68177498 + synonymous_variant Silent SNP C C T rs35298380 Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000294304.7:c.2208C>T p.Asp736= p.D736= ENST00000294304 NM_002335.2 736 gaC/gaT 0 Silent C 17 LRP5 SNP 11 C T 67934074 67934074 Broad MGST1 4257 broad.mit.edu GRCh37 12 16516792 16516792 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000396209.1:c.285G>T p.Leu95Phe p.L95F ENST00000396209 NM_145791.2 95 ttG/ttT 0 Missense_Mutation G 45 MGST1 SNP 12 G T 16408059 16408059 Broad ST8SIA1 6489 broad.mit.edu GRCh37 12 22440105 22440105 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000396037.4:c.359C>T p.Ser120Leu p.S120L ENST00000396037 NM_003034.3 120 tCa/tTa 0 Missense_Mutation G 45 ST8SIA1 SNP 12 G A 22331372 22331372 Broad KIAA1551 55196 broad.mit.edu GRCh37 12 32135055 32135055 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000312561.4:c.1166C>G p.Ala389Gly p.A389G ENST00000312561 NM_018169.3 389 gCa/gGa 0 Missense_Mutation C 25 C12orf35 SNP 12 C G 32026322 32026322 Broad RND1 27289 broad.mit.edu GRCh37 12 49254783 49254783 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000309739.5:c.450G>T p.Glu150Asp p.E150D ENST00000309739 NM_014470.3 150 gaG/gaT 0 Missense_Mutation C 28 RND1 SNP 12 C A 47541050 47541050 Broad GALNT6 11226 broad.mit.edu GRCh37 12 51753081 51753081 + synonymous_variant Silent SNP G G C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000543196.2:c.1203C>G p.Pro401= p.P401= ENST00000543196 401 ccC/ccG 0 Silent G 35 GALNT6 SNP 12 G C 50039348 50039348 Broad ESPL1 9700 broad.mit.edu GRCh37 12 53684720 53684720 + synonymous_variant Silent SNP C C G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000257934.4:c.5460C>G p.Ser1820= p.S1820= ENST00000257934 NM_012291.4 1820 tcC/tcG 0 Silent C 22 ESPL1 SNP 12 C G 51970987 51970987 Broad FGD6 55785 broad.mit.edu GRCh37 12 95604293 95604293 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000343958.4:c.767G>T p.Cys256Phe p.C256F ENST00000343958 NM_018351.3 256 tGc/tTc 0 Missense_Mutation C 25 FGD6 SNP 12 C A 94128424 94128424 Broad HECTD4 283450 broad.mit.edu GRCh37 12 112743937 112743937 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000550722.1:c.834G>A p.Trp278Ter p.W278* ENST00000550722 NM_001109662.3 278 tgG/tgA 0 Nonsense_Mutation C 18 C12orf51 SNP 12 C T 111228320 111228320 Broad ZC3H13 23091 broad.mit.edu GRCh37 13 46563022 46563022 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000282007.3:c.1155G>C p.Lys385Asn p.K385N ENST00000282007 NM_015070.3 385 aaG/aaC 0 Missense_Mutation C 28 ZC3H13 SNP 13 C G 45461023 45461023 Broad ALDH6A1 4329 broad.mit.edu GRCh37 14 74527349 74527349 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000553458.1:c.1604G>A p.Arg535His p.R535H ENST00000553458 NM_001278593.1 535 cGt/cAt 0 Missense_Mutation C 19 ALDH6A1 SNP 14 C T 73597102 73597102 Broad HERC2 8924 broad.mit.edu GRCh37 15 28474440 28474440 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000261609.7:c.5173C>T p.Arg1725Trp p.R1725W ENST00000261609 NM_004667.5 1725 Cgg/Tgg 0 Missense_Mutation G 37 HERC2 SNP 15 G A 26148035 26148035 Broad SPTBN5 51332 broad.mit.edu GRCh37 15 42145528 42145528 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000320955.6:c.10098C>A p.Cys3366Ter p.C3366* ENST00000320955 NM_016642.3 3366 tgC/tgA 0 Nonsense_Mutation G 42 SPTBN5 SNP 15 G T 39932820 39932820 Broad FES 2242 broad.mit.edu GRCh37 15 91436889 91436890 + missense_variant Missense_Mutation DNP TG TG CC novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000328850.3:c.2051_2052delinsCC p.Leu684Pro p.L684P ENST00000328850 NM_002005.3 684 cTG/cCC 0 Missense_Mutation TG 55 FES DNP 15 TG CC 89237894 89237893 Broad TMEM204 79652 broad.mit.edu GRCh37 16 1584302 1584302 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000566264.1:c.26C>T p.Ala9Val p.A9V ENST00000566264 NM_024600.5 9 gCg/gTg 0 Missense_Mutation C 27 TMEM204 SNP 16 C T 1524303 1524303 Broad CHD9 80205 broad.mit.edu GRCh37 16 53190689 53190689 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000566029.1:c.688C>T p.Gln230Ter p.Q230* ENST00000566029 230 Caa/Taa 0 Nonsense_Mutation C 25 CHD9 SNP 16 C T 51748190 51748190 Broad SLC38A7 55238 broad.mit.edu GRCh37 16 58711319 58711319 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000570101.1:c.621C>T p.Ser207= p.S207= ENST00000570101 207 agC/agT 0 Silent G 38 SLC38A7 SNP 16 G A 57268820 57268820 Broad LRRC36 55282 broad.mit.edu GRCh37 16 67401138 67401138 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000329956.6:c.973C>T p.Pro325Ser p.P325S ENST00000329956 NM_018296.5 325 Cct/Tct 0 Missense_Mutation C 18 LRRC36 SNP 16 C T 65958639 65958639 Broad EDC4 23644 broad.mit.edu GRCh37 16 67915025 67915025 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000358933.5:c.2578C>T p.Arg860Ter p.R860* ENST00000358933 NM_014329.4 860 Cga/Tga 0 Nonsense_Mutation C 23 EDC4 SNP 16 C T 66472526 66472526 Broad ZZEF1 23140 broad.mit.edu GRCh37 17 3954080 3954080 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000381638.2:c.5858G>C p.Gly1953Ala p.G1953A ENST00000381638 NM_015113.3 1953 gGa/gCa 0 Missense_Mutation C 30 ZZEF1 SNP 17 C G 3900829 3900829 Broad DNAH9 1770 broad.mit.edu GRCh37 17 11522913 11522913 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000262442.4:c.1165G>A p.Glu389Lys p.E389K ENST00000262442 NM_001372.3 389 Gaa/Aaa 0 Missense_Mutation G 33 DNAH9 SNP 17 G A 11463638 11463638 Broad MYO19 80179 broad.mit.edu GRCh37 17 34859787 34859788 + splice_donor_variant,intron_variant Splice_Site DNP CA CA GT novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000431794.3:c.1976+2_1976+3delinsAC p.X659_splice ENST00000431794 NM_001163735.1 0 Splice_Site_SNP CA 29 MYO19 DNP 17 CA GT 31933901 31933900 Broad MYO19 80179 broad.mit.edu GRCh37 17 34859790 34859790 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000431794.3:c.1976G>T p.Arg659Leu p.R659L ENST00000431794 NM_001163735.1 659 cGg/cTg 0 Missense_Mutation C 23 MYO19 SNP 17 C A 31933903 31933903 Broad MYL4 4635 broad.mit.edu GRCh37 17 45297309 45297309 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000354968.1:c.203C>A p.Thr68Asn p.T68N ENST00000354968 NM_001002841.1 68 aCt/aAt 0 Missense_Mutation C 20 MYL4 SNP 17 C A 42652308 42652308 Broad SRSF1 6426 broad.mit.edu GRCh37 17 56083294 56083294 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000258962.4:c.420C>A p.His140Gln p.H140Q ENST00000258962 NM_006924.4 140 caC/caA 0 Missense_Mutation G 48 SRSF1 SNP 17 G T 53438293 53438293 Broad CBX4 8535 broad.mit.edu GRCh37 17 77808484 77808485 + missense_variant Missense_Mutation DNP CT CT GA novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000269397.4:c.956_957delinsTC p.Lys319Ile p.K319I ENST00000269397 NM_003655.2 319 aAG/aTC 0 Missense_Mutation CT 32 CBX4 DNP 17 CT GA 75423080 75423079 Broad MC4R 4160 broad.mit.edu GRCh37 18 58039574 58039574 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000299766.3:c.9C>A p.Asn3Lys p.N3K ENST00000299766 NM_005912.2 3 aaC/aaA 0 Missense_Mutation G 36 MC4R SNP 18 G T 56190554 56190554 Broad SLC1A6 6511 broad.mit.edu GRCh37 19 15079253 15079253 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000221742.3:c.410T>G p.Val137Gly p.V137G ENST00000221742 NM_005071.2 137 gTg/gGg 0 Missense_Mutation A 6 SLC1A6 SNP 19 A C 14940253 14940253 Broad POLR2I 5438 broad.mit.edu GRCh37 19 36605738 36605738 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000221859.4:c.21C>G p.Tyr7Ter p.Y7* ENST00000221859 NM_006233.4 7 taC/taG 0 Nonsense_Mutation G 40 POLR2I SNP 19 G C 41297578 41297578 Broad ZNF549 256051 broad.mit.edu GRCh37 19 58046513 58046513 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000376233.3:c.74G>T p.Gly25Val p.G25V ENST00000376233 NM_001199295.1 25 gGc/gTc 0 Missense_Mutation G 42 ZNF549 SNP 19 G T 62738325 62738325 Broad TRAPPC12 51112 broad.mit.edu GRCh37 2 3425739 3425739 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000324266.5:c.1252A>C p.Thr418Pro p.T418P ENST00000324266 NM_016030.5 418 Acc/Ccc 0 Missense_Mutation A 6 TTC15 SNP 2 A C 3404746 3404746 Broad NCOA1 8648 broad.mit.edu GRCh37 2 24905856 24905856 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000406961.1:c.391G>T p.Gly131Trp p.G131W ENST00000406961 131 Ggg/Tgg 0 Missense_Mutation G 35 NCOA1 SNP 2 G T 24759360 24759360 Broad ZNF513 130557 broad.mit.edu GRCh37 2 27601003 27601003 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000323703.6:c.1035A>G p.Gly345= p.G345= ENST00000323703 NM_144631.5 345 ggA/ggG 0 Silent T 54 ZNF513 SNP 2 T C 27454507 27454507 Broad APLF 200558 broad.mit.edu GRCh37 2 68765169 68765169 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000303795.4:c.970T>G p.Cys324Gly p.C324G ENST00000303795 NM_173545.2 324 Tgt/Ggt 0 Missense_Mutation T 55 APLF SNP 2 T G 68618673 68618673 Broad INPP4A 3631 broad.mit.edu GRCh37 2 99170737 99170737 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000074304.5:c.1366C>G p.Arg456Gly p.R456G ENST00000074304 NM_001134224.1 456 Cgg/Ggg 0 Missense_Mutation C 19 INPP4A SNP 2 C G 98537169 98537169 Broad GCC2 9648 broad.mit.edu GRCh37 2 109116045 109116045 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000309863.6:c.4819C>G p.Gln1607Glu p.Q1607E ENST00000309863 NM_181453.3 1607 Caa/Gaa 0 Missense_Mutation C 29 GCC2 SNP 2 C G 108482477 108482477 Broad GCA 25801 broad.mit.edu GRCh37 2 163204169 163204169 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000437150.2:c.109G>T p.Gly37Ter p.G37* ENST00000437150 NM_012198.3 37 Gga/Tga 0 Nonsense_Mutation G 47 GCA SNP 2 G T 162912415 162912415 Broad PTPRN 5798 broad.mit.edu GRCh37 2 220166422 220166422 + synonymous_variant Silent SNP C C A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000295718.2:c.1014G>T p.Leu338= p.L338= ENST00000295718 NM_002846.3 338 ctG/ctT 0 Silent C 21 PTPRN SNP 2 C A 219874666 219874666 Broad SOGA1 140710 broad.mit.edu GRCh37 20 35467706 35467706 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000237536.4:c.826C>G p.Arg276Gly p.R276G ENST00000237536 NM_080627.2 276 Cgc/Ggc 0 Missense_Mutation G 38 C20orf117 SNP 20 G C 34901120 34901120 Broad CSE1L 1434 broad.mit.edu GRCh37 20 47705871 47705871 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000262982.2:c.1909G>T p.Val637Phe p.V637F ENST00000262982 NM_001316.3 637 Gtt/Ttt 0 Missense_Mutation G 48 CSE1L SNP 20 G T 47139278 47139278 Broad SALL4 57167 broad.mit.edu GRCh37 20 50406711 50406711 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000217086.4:c.2311G>A p.Glu771Lys p.E771K ENST00000217086 NM_020436.3 771 Gag/Aag 0 Missense_Mutation C 30 SALL4 SNP 20 C T 49840118 49840118 Broad LIPI 149998 broad.mit.edu GRCh37 21 15538721 15538721 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000344577.2:c.758G>A p.Gly253Glu p.G253E ENST00000344577 NM_198996.2 253 gGa/gAa 0 Missense_Mutation C 30 LIPI SNP 21 C T 14460592 14460592 Broad TRIOBP 11078 broad.mit.edu GRCh37 22 38151168 38151168 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000406386.3:c.5548G>C p.Val1850Leu p.V1850L ENST00000406386 NM_001039141.2 1850 Gtg/Ctg 0 Missense_Mutation G 44 TRIOBP SNP 22 G C 36481114 36481114 Broad GOLGA4 2803 broad.mit.edu GRCh37 3 37365320 37365320 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000356847.4:c.2009A>C p.Lys670Thr p.K670T ENST00000356847 NM_001172713.1 670 aAg/aCg 0 Missense_Mutation A 3 GOLGA4 SNP 3 A C 37340324 37340324 Broad DNAH1 25981 broad.mit.edu GRCh37 3 52386009 52386009 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000420323.2:c.2761C>A p.Leu921Ile p.L921I ENST00000420323 NM_015512.4 921 Ctt/Att 0 Missense_Mutation C 24 DNAH1 SNP 3 C A 52361049 52361049 Broad STAB1 23166 broad.mit.edu GRCh37 3 52538804 52538804 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000321725.6:c.1289A>G p.His430Arg p.H430R ENST00000321725 NM_015136.2 430 cAc/cGc 0 Missense_Mutation A 6 STAB1 SNP 3 A G 52513844 52513844 Broad CMSS1 84319 broad.mit.edu GRCh37 3 99881221 99881221 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000421999.2:c.300G>C p.Lys100Asn p.K100N ENST00000421999 NM_032359.3 100 aaG/aaC 0 Missense_Mutation G 35 C3orf26 SNP 3 G C 101363911 101363911 Broad RARRES1 5918 broad.mit.edu GRCh37 3 158428697 158428697 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000237696.5:c.365G>A p.Arg122His p.R122H ENST00000237696 NM_206963.1 122 cGt/cAt 0 Missense_Mutation C 19 RARRES1 SNP 3 C T 159911391 159911391 Broad SI 6476 broad.mit.edu GRCh37 3 164735578 164735578 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000264382.3:c.3604C>A p.Pro1202Thr p.P1202T ENST00000264382 NM_001041.3 1202 Cca/Aca 0 Missense_Mutation G 41 SI SNP 3 G T 166218272 166218272 Broad SAMD7 344658 broad.mit.edu GRCh37 3 169639085 169639085 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000428432.2:c.170A>G p.Asn57Ser p.N57S ENST00000428432 NM_182610.2 57 aAc/aGc 0 Missense_Mutation A 2 SAMD7 SNP 3 A G 171121779 171121779 Broad TNIK 23043 broad.mit.edu GRCh37 3 170802090 170802090 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000436636.2:c.3023G>A p.Arg1008Lys p.R1008K ENST00000436636 NM_015028.2 1008 aGg/aAg 0 Missense_Mutation C 24 TNIK SNP 3 C T 172284784 172284784 Broad TMEM156 80008 broad.mit.edu GRCh37 4 38995464 38995464 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000381938.3:c.513G>T p.Met171Ile p.M171I ENST00000381938 NM_024943.1 171 atG/atT 0 Missense_Mutation C 21 TMEM156 SNP 4 C A 38671859 38671859 Broad NKX6-1 4825 broad.mit.edu GRCh37 4 85414555 85414555 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000295886.4:c.991G>T p.Asp331Tyr p.D331Y ENST00000295886 NM_006168.2 331 Gat/Tat 0 Missense_Mutation C 30 NKX6-1 SNP 4 C A 85633579 85633579 Broad PALLD 23022 broad.mit.edu GRCh37 4 169819673 169819673 + synonymous_variant Silent SNP A A G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000505667.1:c.2280A>G p.Arg760= p.R760= ENST00000505667 760 agA/agG 0 Silent A 10 PALLD SNP 4 A G 170056248 170056248 Broad IRX4 50805 broad.mit.edu GRCh37 5 1879925 1879925 + synonymous_variant Silent SNP G G C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000505790.1:c.429C>G p.Gly143= p.G143= ENST00000505790 NM_001278634.1 143 ggC/ggG 0 Silent G 46 IRX4 SNP 5 G C 1932925 1932925 Broad NNT 23530 broad.mit.edu GRCh37 5 43675734 43675734 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000264663.5:c.2756A>T p.Asp919Val p.D919V ENST00000264663 NM_012343.3 919 gAc/gTc 0 Missense_Mutation A 10 NNT SNP 5 A T 43711491 43711491 Broad NDST1 3340 broad.mit.edu GRCh37 5 149907644 149907644 + synonymous_variant Silent SNP C C G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000261797.6:c.792C>G p.Ala264= p.A264= ENST00000261797 NM_001543.4 264 gcC/gcG 0 Silent C 21 NDST1 SNP 5 C G 149887837 149887837 Broad ZKSCAN8 7745 broad.mit.edu GRCh37 6 28116415 28116415 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000330236.6:c.230A>G p.His77Arg p.H77R ENST00000330236 NM_001278122.1 77 cAt/cGt 0 Missense_Mutation A 8 ZNF192 SNP 6 A G 28224394 28224394 Broad FGD2 221472 broad.mit.edu GRCh37 6 36988318 36988318 + missense_variant,splice_region_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000274963.8:c.1124T>G p.Val375Gly p.V375G ENST00000274963 NM_173558.3 375 gTg/gGg 0 Missense_Mutation T 59 FGD2 SNP 6 T G 37096296 37096296 Broad DST 667 broad.mit.edu GRCh37 6 56376012 56376012 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000244364.6:c.10894A>G p.Ile3632Val p.I3632V ENST00000244364 NM_015548.4 3632 Att/Gtt 0 Missense_Mutation T 51 DST SNP 6 T C 56483971 56483971 Broad MDN1 23195 broad.mit.edu GRCh37 6 90380756 90380756 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000369393.3:c.13838T>A p.Val4613Asp p.V4613D ENST00000369393 4613 gTc/gAc 0 Missense_Mutation A 10 MDN1 SNP 6 A T 90437477 90437477 Broad AIM1 202 broad.mit.edu GRCh37 6 106992511 106992511 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000369066.3:c.3881G>C p.Arg1294Thr p.R1294T ENST00000369066 NM_001624.2 1294 aGg/aCg 0 Missense_Mutation G 35 AIM1 SNP 6 G C 107099204 107099204 Broad VNN1 8876 broad.mit.edu GRCh37 6 133004446 133004446 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000367928.4:c.1375C>G p.Arg459Gly p.R459G ENST00000367928 NM_004666.2 459 Cgc/Ggc 0 Missense_Mutation G 40 VNN1 SNP 6 G C 133046139 133046139 Broad RSPH3 83861 broad.mit.edu GRCh37 6 159420883 159420883 + synonymous_variant Silent SNP G G C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000252655.1:c.126C>G p.Pro42= p.P42= ENST00000252655 NM_031924.4 42 ccC/ccG 0 Silent G 39 RSPH3 SNP 6 G C 159340871 159340871 Broad EIF3B 8662 broad.mit.edu GRCh37 7 2409311 2409311 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000360876.4:c.1608C>T p.Gly536= p.G536= ENST00000360876 NM_001037283.1 536 ggC/ggT 0 Silent C 25 EIF3B SNP 7 C T 2375837 2375837 Broad WBSCR17 64409 broad.mit.edu GRCh37 7 70853311 70853311 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000333538.5:c.513C>T p.Ser171= p.S171= ENST00000333538 NM_022479.2 171 tcC/tcT 0 Silent C 23 WBSCR17 SNP 7 C T 70491247 70491247 Broad HYAL4 23553 broad.mit.edu GRCh37 7 123508562 123508562 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000223026.4:c.235C>G p.Leu79Val p.L79V ENST00000223026 NM_012269.2 79 Ctg/Gtg 0 Missense_Mutation C 20 HYAL4 SNP 7 C G 123295798 123295798 Broad CCDC136 64753 broad.mit.edu GRCh37 7 128447443 128447443 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000297788.4:c.1449G>A p.Glu483= p.E483= ENST00000297788 NM_022742.4 483 gaG/gaA 0 Silent G 33 CCDC136 SNP 7 G A 128234679 128234679 Broad LRGUK 136332 broad.mit.edu GRCh37 7 133859352 133859352 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000285928.2:c.984C>T p.Ile328= p.I328= ENST00000285928 NM_144648.1 328 atC/atT 0 Silent C 30 LRGUK SNP 7 C T 133509892 133509892 Broad MTMR9 66036 broad.mit.edu GRCh37 8 11174205 11174205 + synonymous_variant Silent SNP C C G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000221086.3:c.1137C>G p.Arg379= p.R379= ENST00000221086 NM_015458.3 379 cgC/cgG 0 Silent C 28 MTMR9 SNP 8 C G 11211615 11211615 Broad CA3 761 broad.mit.edu GRCh37 8 86352050 86352050 + synonymous_variant Silent SNP T T G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000285381.2:c.144T>G p.Ser48= p.S48= ENST00000285381 NM_005181.3 48 tcT/tcG 0 Silent T 55 CA3 SNP 8 T G 86539302 86539302 Broad OSR2 116039 broad.mit.edu GRCh37 8 99962883 99962883 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000297565.4:c.657-1G>T p.X219_splice ENST00000297565 NM_001142462.1 0 Splice_Site_SNP G 33 OSR2 SNP 8 G T 100032059 100032059 Broad TG 7038 broad.mit.edu GRCh37 8 134034366 134034366 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000220616.4:c.7007G>A p.Arg2336Gln p.R2336Q ENST00000220616 NM_003235.4 2336 cGa/cAa 0 Missense_Mutation G 37 TG SNP 8 G A 134103548 134103548 Broad MROH6 642475 broad.mit.edu GRCh37 8 144652734 144652734 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000398882.3:c.814C>G p.Gln272Glu p.Q272E ENST00000398882 NM_001100878.1 272 Cag/Gag 0 Missense_Mutation G 48 C8orf73 SNP 8 G C 144723877 144723877 Broad CYHR1 50626 broad.mit.edu GRCh37 8 145689746 145689746 + intron_variant Intron SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000438911.2:c.246+97G>A *82* ENST00000438911 NM_138496.1 0 Missense_Mutation C 26 CYHR1 SNP 8 C T 145660554 145660554 Broad SPTLC1 10558 broad.mit.edu GRCh37 9 94821591 94821591 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000262554.2:c.561-1G>A p.X187_splice ENST00000262554 NM_001281303.1 0 Splice_Site_SNP C 32 SPTLC1 SNP 9 C T 93861412 93861412 Broad INVS 27130 broad.mit.edu GRCh37 9 103014594 103014594 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000262457.2:c.1108G>T p.Val370Phe p.V370F ENST00000262457 NM_014425.3 370 Gtc/Ttc 0 Missense_Mutation G 48 INVS SNP 9 G T 102054415 102054415 Broad LRRC8A 56262 broad.mit.edu GRCh37 9 131670608 131670608 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000259324.5:c.1165C>G p.Arg389Gly p.R389G ENST00000259324 NM_001127244.1 389 Cgc/Ggc 0 Missense_Mutation C 27 LRRC8A SNP 9 C G 130710429 130710429 Broad ABL1 25 broad.mit.edu GRCh37 9 133730195 133730195 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000318560.5:c.261G>C p.Lys87Asn p.K87N ENST00000318560 NM_005157.4 87 aaG/aaC 0 Missense_Mutation G 34 ABL1 SNP 9 G C 132720016 132720016 Broad SEC16A 9919 broad.mit.edu GRCh37 9 139342581 139342581 + synonymous_variant Silent SNP T T G novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000313050.7:c.6345A>C p.Gly2115= p.G2115= ENST00000313050 NM_014866.1 2115 ggA/ggC 0 Silent T 62 SEC16A SNP 9 T G 138462402 138462402 Broad RBBP7 5931 broad.mit.edu GRCh37 X 16870748 16870748 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000380084.4:c.1021G>T p.Val341Leu p.V341L ENST00000380084 NM_001198719.1 341 Gta/Tta 0 Missense_Mutation C 19 RBBP7 SNP 23 C A 16780669 16780669 Broad RAB40AL 282808 broad.mit.edu GRCh37 X 102192810 102192810 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown x x x ENST00000218249.5:c.564G>A p.Lys188= p.K188= ENST00000218249 NM_001031834.1 188 aaG/aaA 0 Silent G 35 RAB40AL SNP 23 G A 102079466 102079466 Broad NPIPB5 100132247 broad.mit.edu GRCh37 16 22545984 22545995 + inframe_deletion In_Frame_Del DEL TCCACCCTCAGC TCCACCCTCAGC - novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000424340.1:c.1692_1703del p.Pro565_Ala568del p.P565_A568del ENST00000424340 NM_001135865.1 560 ctTCCACCCTCAGCt/ctt 0 In_Frame_Del TCCACCCTCAGC 62 LOC100132247 DEL 16 - TCCACCCTCAGC 22453496 22453485 Broad TP53 7157 broad.mit.edu GRCh37 17 7578182 7578183 + frameshift_variant Frame_Shift_Del DEL GC GC - novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.666_667del p.Pro223Ter p.P223* ENST00000269305 NM_001126112.2 222 ccGCct/ccct 0 Frame_Shift_Del GC 42 TP53 DEL 17 - GC 7518908 7518907 Broad ZNF415 55786 broad.mit.edu GRCh37 19 53611670 53611682 + frameshift_variant Frame_Shift_Del DEL TGATGTCTGAAGA TGATGTCTGAAGA - novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000500065.4:c.1616_1628del p.Leu539GlnfsTer23 p.L539Qfs*23 ENST00000500065 NM_001136038.2 539 cTCTTCAGACATCAa/ca 0 Frame_Shift_Del TGATGTCTGAAGA 63 ZNF415 DEL 19 - TGATGTCTGAAGA 58303494 58303482 Broad LIAS 11019 broad.mit.edu GRCh37 4 39460751 39460756 + inframe_deletion In_Frame_Del DEL GCGGGG GCGGGG - novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000261434.3:c.14_19del p.Cys5_Asp7delinsTyr p.C5_D7delinsY ENST00000261434 NM_006859.3 5 tGCGGGGat/tat 0 In_Frame_Del GCGGGG 46 LIAS DEL 4 - GCGGGG 39137151 39137146 Broad DRP2 1821 broad.mit.edu GRCh37 X 100490976 100491018 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL GTTGGAATGAAATAAAAAAGAAGTCTCACAACCTCCGGTAAGA GTTGGAATGAAATAAAAAAGAAGTCTCACAACCTCCGGTAAGA - novel Unknown TCGA-09-2051-01 TCGA-09-2051-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000395209.3:c.245_281+6del p.X82_splice ENST00000395209 NM_001939.2 82 0 Splice_Site_Del GTTGGAATGAAATAAAAAAGAAGTCTCACAACCTCCGGTAAGA 48 DRP2 DEL 23 - GTTGGAATGAAATAAAAAAGAAGTCTCACAACCTCCGGTAAGA 100377674 100377632 Broad AGGF1 55109 hgsc.bcm.edu GRCh37 5 76349878 76349878 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000312916.7:c.1556G>T p.Gly519Val p.G519V ENST00000312916 NM_018046.4 519 gGc/gTc 0 Missense_Mutation G 42 AGGF1 SNP 5 G T 76385634 76385634 Baylor BMPER 168667 hgsc.bcm.edu GRCh37 7 33945266 33945266 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000297161.2:c.41A>C p.Tyr14Ser p.Y14S ENST00000297161 NM_133468.4 14 tAc/tCc 0 Missense_Mutation A 14 BMPER SNP 7 A C 33911791 33911791 Baylor DHTKD1 55526 hgsc.bcm.edu GRCh37 10 12148275 12148275 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000263035.4:c.1927G>A p.Val643Ile p.V643I ENST00000263035 NM_018706.6 643 Gtc/Atc 0 Missense_Mutation G 40 DHTKD1 SNP 10 G A 12188281 12188281 Baylor DMXL1 1657 hgsc.bcm.edu GRCh37 5 118576153 118576153 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311085.8:c.8628T>C p.Asn2876= p.N2876= ENST00000311085 NM_005509.4 2876 aaT/aaC 0 Silent T 49 DMXL1 SNP 5 T C 118604052 118604052 Baylor EDNRA 1909 hgsc.bcm.edu GRCh37 4 148406955 148406955 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000324300.5:c.122G>A p.Arg41His p.R41H ENST00000324300 NM_001957.3 41 cGt/cAt 0 Missense_Mutation G 40 EDNRA SNP 4 G A 148626405 148626405 Baylor FAM179A 165186 hgsc.bcm.edu GRCh37 2 29249830 29249830 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000379558.4:c.1965G>A p.Leu655= p.L655= ENST00000379558 NM_199280.2 655 ttG/ttA 0 Silent G 47 FAM179A SNP 2 G A 29103334 29103334 Baylor KDM2A 22992 hgsc.bcm.edu GRCh37 11 67020275 67020275 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000529006.2:c.2879G>A p.Ser960Asn p.S960N ENST00000529006 NM_012308.2 960 aGt/aAt 0 Missense_Mutation G 36 KDM2A SNP 11 G A 66776851 66776851 Baylor LEPREL1 55214 hgsc.bcm.edu GRCh37 3 189838044 189838044 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000319332.5:c.477C>G p.Ile159Met p.I159M ENST00000319332 NM_018192.3 159 atC/atG 0 Missense_Mutation G 45 LEPREL1 SNP 3 G C 191320738 191320738 Baylor MANEA 79694 hgsc.bcm.edu GRCh37 6 96053996 96053996 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358812.4:c.1104G>T p.Trp368Cys p.W368C ENST00000358812 NM_024641.3 368 tgG/tgT 0 Missense_Mutation G 41 MANEA SNP 6 G T 96160717 96160717 Baylor MMP9 4318 hgsc.bcm.edu GRCh37 20 44637670 44637670 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372330.3:c.105G>C p.Leu35= p.L35= ENST00000372330 NM_004994.2 35 ctG/ctC 0 Silent G 45 MMP9 SNP 20 G C 44071077 44071077 Baylor OPCML 4978 hgsc.bcm.edu GRCh37 11 132306083 132306083 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000331898.7:c.834G>A p.Met278Ile p.M278I ENST00000331898 NM_002545.3 278 atG/atA 0 Missense_Mutation C 17 OPCML SNP 11 C T 131811293 131811293 Baylor PLA2G4E 123745 hgsc.bcm.edu GRCh37 15 42302338 42302338 + intron_variant Intron DEL A A - novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399518.3:c.257-2275delT *86* ENST00000399518 NM_001206670.1 0 Frame_Shift_Del A 6 PLA2G4E DEL 15 A - 40089630 40089630 Baylor SFXN5 94097 hgsc.bcm.edu GRCh37 2 73285719 73285719 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000272433.2:c.109T>C p.Phe37Leu p.F37L ENST00000272433 NM_144579.2 37 Ttc/Ctc 0 Missense_Mutation A 3 SFXN5 SNP 2 A G 73139227 73139227 Baylor SSRP1 6749 hgsc.bcm.edu GRCh37 11 57095244 57095244 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000278412.2:c.1724C>T p.Thr575Met p.T575M ENST00000278412 NM_003146.2 575 aCg/aTg 0 Missense_Mutation G 40 SSRP1 SNP 11 G A 56851820 56851820 Baylor THAP4 51078 hgsc.bcm.edu GRCh37 2 242545728 242545728 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000407315.1:c.1400+1G>A p.X467_splice ENST00000407315 NM_015963.5 0 Splice_Site_SNP C 19 THAP4 SNP 2 C T 242194401 242194401 Baylor TLR3 7098 hgsc.bcm.edu GRCh37 4 187004245 187004245 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000296795.3:c.1405C>G p.Leu469Val p.L469V ENST00000296795 NM_003265.2 469 Ctg/Gtg 0 Missense_Mutation C 24 TLR3 SNP 4 C G 187241239 187241239 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578271 7578271 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000269305.4:c.578A>G p.His193Arg p.H193R ENST00000269305 NM_001126112.2 193 cAt/cGt 0 Missense_Mutation T 51 TP53 SNP 17 T C 7518996 7518996 Baylor UHRF1BP1L 23074 hgsc.bcm.edu GRCh37 12 100453251 100453251 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000279907.7:c.1804A>G p.Ile602Val p.I602V ENST00000279907 NM_015054.1 602 Att/Gtt 0 Missense_Mutation T 49 UHRF1BP1L SNP 12 T C 98977382 98977382 Baylor ZBTB4 57659 hgsc.bcm.edu GRCh37 17 7370109 7370110 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-24-0968-01 TCGA-24-0968-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311403.4:c.11dupC p.Ala5CysfsTer18 p.A5Cfs*18 ENST00000311403 NM_020899.3 4 cct/ccCt 0 Frame_Shift_Ins - 7 ZBTB4 INS 17 - G 7310834 7310833 Baylor ABCA3 21 hgsc.bcm.edu GRCh37 16 2336768 2336768 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000301732.5:c.3205C>T p.His1069Tyr p.H1069Y ENST00000301732 NM_001089.2 1069 Cac/Tac 0 Missense_Mutation G 45 ABCA3 SNP 16 G A 2276769 2276769 Baylor ADAMTS13 11093 hgsc.bcm.edu GRCh37 9 136310027 136310027 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000371929.3:c.2464G>C p.Ala822Pro p.A822P ENST00000371929 NM_139025.4 822 Gca/Cca 0 Missense_Mutation G 34 ADAMTS13 SNP 9 G C 135299848 135299848 Baylor AGPAT6 137964 hgsc.bcm.edu GRCh37 8 41467253 41467253 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000396987.3:c.315C>A p.Asp105Glu p.D105E ENST00000396987 NM_178819.3 105 gaC/gaA 0 Missense_Mutation C 17 AGPAT6 SNP 8 C A 41586410 41586410 Baylor ANGPTL2 23452 hgsc.bcm.edu GRCh37 9 129870335 129870335 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373425.3:c.676C>A p.Gln226Lys p.Q226K ENST00000373425 NM_012098.2 226 Caa/Aaa 0 Missense_Mutation G 47 ANGPTL2 SNP 9 G T 128910156 128910156 Baylor ANGPTL2 23452 hgsc.bcm.edu GRCh37 9 129870339 129870339 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373425.3:c.672C>T p.Val224= p.V224= ENST00000373425 NM_012098.2 224 gtC/gtT 0 Silent G 33 ANGPTL2 SNP 9 G A 128910160 128910160 Baylor ARHGAP20 57569 hgsc.bcm.edu GRCh37 11 110450220 110450221 + frameshift_variant Frame_Shift_Del DEL AG AG - novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 AG AG . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000260283.4:c.3449_3450del p.Ser1150PhefsTer33 p.S1150Ffs*33 ENST00000260283 NM_020809.3 1150 tCT/t 0 Frame_Shift_Del AG 3 ARHGAP20 DEL 11 AG - 109955431 109955430 Baylor ATP8B3 148229 hgsc.bcm.edu GRCh37 19 1783212 1783212 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310127.6:c.3718C>T p.His1240Tyr p.H1240Y ENST00000310127 NM_138813.3 1240 Cat/Tat 0 Missense_Mutation G 45 ATP8B3 SNP 19 G A 1734212 1734212 Baylor B3GAT1 27087 hgsc.bcm.edu GRCh37 11 134252764 134252764 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000524765.1:c.758T>C p.Ile253Thr p.I253T ENST00000524765 253 aTa/aCa 0 Missense_Mutation A 16 B3GAT1 SNP 11 A G 133757974 133757974 Baylor BOC 91653 hgsc.bcm.edu GRCh37 3 112998812 112998812 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000495514.1:c.2162C>A p.Thr721Lys p.T721K ENST00000495514 721 aCg/aAg 0 Missense_Mutation C 19 BOC SNP 3 C A 114481502 114481502 Baylor C17orf53 78995 hgsc.bcm.edu GRCh37 17 42225949 42225949 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000319977.4:c.780del p.Thr261LeufsTer48 p.T261Lfs*48 ENST00000319977 NM_024032.3 260 Ccc/cc 0 Frame_Shift_Del C 30 C17orf53 DEL 17 C - 39581475 39581475 Baylor CABIN1 23523 hgsc.bcm.edu GRCh37 22 24483449 24483449 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000398319.2:c.3308T>A p.Ile1103Asn p.I1103N ENST00000398319 NM_001199281.1 1103 aTt/aAt 0 Indel T 52 CABIN1 Indel 22 T A 22813449 22813449 Baylor CACNG3 10368 hgsc.bcm.edu GRCh37 16 24358110 24358110 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000005284.3:c.267C>A p.Tyr89Ter p.Y89* ENST00000005284 NM_006539.3 89 taC/taA 0 Nonsense_Mutation C 19 CACNG3 SNP 16 C A 24265611 24265611 Baylor CCDC60 160777 hgsc.bcm.edu GRCh37 12 119942987 119942987 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000327554.2:c.762G>A p.Met254Ile p.M254I ENST00000327554 NM_178499.3 254 atG/atA 0 Missense_Mutation G 45 CCDC60 SNP 12 G A 118427370 118427370 Baylor CCDC93 54520 hgsc.bcm.edu GRCh37 2 118705717 118705717 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000376300.2:c.1188G>A p.Leu396= p.L396= ENST00000376300 NM_019044.4 396 ctG/ctA 0 Silent C 29 CCDC93 SNP 2 C T 118422187 118422187 Baylor CD79A 973 hgsc.bcm.edu GRCh37 19 42385046 42385046 + stop_retained_variant Silent SNP G G A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000221972.3:c.680G>A p.Ter227= p.*227= ENST00000221972 NM_021601.3 227 tGa/tAa 0 Silent G 45 CD79A SNP 19 G A 47076886 47076886 Baylor CDC27 996 hgsc.bcm.edu GRCh37 17 45216160 45216160 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000531206.1:c.1667T>G p.Val556Gly p.V556G ENST00000531206 556 gTt/gGt 0 Missense_Mutation A 2 CDC27 SNP 17 A C 42571159 42571159 Baylor CDK11A 728642 hgsc.bcm.edu GRCh37 1 1650797 1650797 + missense_variant Missense_Mutation SNP A A G rs1059830 Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000404249.3:c.325T>C p.Cys109Arg p.C109R ENST00000404249 NM_024011.2 109 Tgt/Cgt 0 Splice_Site_SNP A 8 CDK11B SNP 1 A G 1640657 1640657 Baylor CDH1 999 hgsc.bcm.edu GRCh37 16 68845700 68845700 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000261769.5:c.946A>G p.Met316Val p.M316V ENST00000261769 NM_004360.3 316 Atg/Gtg 0 Missense_Mutation A 16 CDH1 SNP 16 A G 67403201 67403201 Baylor CDH23 64072 hgsc.bcm.edu GRCh37 10 73461787 73461787 + synonymous_variant Silent SNP T T G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000224721.6:c.2421T>G p.Ala807= p.A807= ENST00000224721 NM_022124.5 807 gcT/gcG 0 Silent T 55 CDH23 SNP 10 T G 73131793 73131793 Baylor CEACAM18 729767 hgsc.bcm.edu GRCh37 19 51981792 51981792 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000451626.1:c.79C>T p.Arg27Ter p.R27* ENST00000451626 27 Cga/Tga 0 Nonsense_Mutation C 19 CEACAM18 SNP 19 C T 56673604 56673604 Baylor CELSR3 1951 hgsc.bcm.edu GRCh37 3 48684346 48684346 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000164024.4:c.7145G>A p.Ser2382Asn p.S2382N ENST00000164024 NM_001407.2 2382 aGc/aAc 0 Missense_Mutation C 28 CELSR3 SNP 3 C T 48659350 48659350 Baylor CFP 5199 hgsc.bcm.edu GRCh37 X 47489234 47489234 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000247153.3:c.10G>A p.Glu4Lys p.E4K ENST00000247153 NM_002621.2 4 Gag/Aag 0 Missense_Mutation C 32 CFP SNP 23 C T 47374178 47374178 Baylor CHRNA2 1135 hgsc.bcm.edu GRCh37 8 27321224 27321224 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000407991.1:c.736G>T p.Asp246Tyr p.D246Y ENST00000407991 NM_000742.3 246 Gac/Tac 0 Missense_Mutation C 31 CHRNA2 SNP 8 C A 27377141 27377141 Baylor DLC1 10395 hgsc.bcm.edu GRCh37 8 12947764 12947765 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000276297.4:c.4070dup p.Lys1358GlufsTer16 p.K1358Efs*16 ENST00000276297 NM_182643.2 1357 aag/aaAg 0 Frame_Shift_Ins - 32 DLC1 INS 8 - T 12992136 12992135 Baylor DOCK6 57572 hgsc.bcm.edu GRCh37 19 11311647 11311647 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000294618.7:c.5770C>T p.Pro1924Ser p.P1924S ENST00000294618 NM_020812.3 1924 Cca/Tca 0 Missense_Mutation G 43 DOCK6 SNP 19 G A 11172647 11172647 Baylor E2F2 1870 hgsc.bcm.edu GRCh37 1 23836447 23836447 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361729.2:c.1239G>T p.Leu413= p.L413= ENST00000361729 NM_004091.3 413 ctG/ctT 0 Silent C 17 E2F2 SNP 1 C A 23709034 23709034 Baylor ECE2 9718 hgsc.bcm.edu GRCh37 3 184001628 184001628 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000402825.3:c.1226G>T p.Arg409Leu p.R409L ENST00000402825 NM_014693.3 409 cGg/cTg 0 Missense_Mutation G 39 ECE2 SNP 3 G T 185484322 185484322 Baylor EHD1 10938 hgsc.bcm.edu GRCh37 11 64641976 64641976 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000320631.3:c.419del p.Gln140ArgfsTer64 p.Q140Rfs*64 ENST00000320631 NM_006795.2 140 cAg/cg 0 Frame_Shift_Del T 55 EHD1 DEL 11 T - 64398552 64398552 Baylor ELF4 2000 hgsc.bcm.edu GRCh37 X 129205183 129205183 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000308167.5:c.641T>C p.Phe214Ser p.F214S ENST00000308167 NM_001421.3 214 tTc/tCc 0 Missense_Mutation A 9 ELF4 SNP 23 A G 129032864 129032864 Baylor F10 2159 hgsc.bcm.edu GRCh37 13 113803786 113803786 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375559.3:c.1422C>A p.Ala474= p.A474= ENST00000375559 NM_000504.3 474 gcC/gcA 0 Silent C 21 F10 SNP 13 C A 112851787 112851787 Baylor F11 2160 hgsc.bcm.edu GRCh37 4 187194255 187194255 + synonymous_variant Silent SNP A A T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000403665.2:c.249A>T p.Thr83= p.T83= ENST00000403665 NM_000128.3 83 acA/acT 0 Silent A 7 F11 SNP 4 A T 187431249 187431249 Baylor FARSA 2193 hgsc.bcm.edu GRCh37 19 13041253 13041253 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000314606.4:c.374T>C p.Val125Ala p.V125A ENST00000314606 NM_004461.2 125 gTg/gCg 0 Missense_Mutation A 6 FARSA SNP 19 A G 12902253 12902253 Baylor FBXW7 55294 hgsc.bcm.edu GRCh37 4 153249384 153249384 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000281708.4:c.1394G>A p.Arg465His p.R465H ENST00000281708 NM_033632.3 465 cGt/cAt 0 Missense_Mutation C 19 FBXW7 SNP 4 C T 153468834 153468834 Baylor GABRB1 2560 hgsc.bcm.edu GRCh37 4 47427958 47427958 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000295454.3:c.1348G>C p.Asp450His p.D450H ENST00000295454 NM_000812.3 450 Gac/Cac 0 Missense_Mutation G 33 GABRB1 SNP 4 G C 47122715 47122715 Baylor GALNT8 26290 hgsc.bcm.edu GRCh37 12 4829991 4829991 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000252318.2:c.148A>G p.Asn50Asp p.N50D ENST00000252318 NM_017417.1 50 Aat/Gat 0 Missense_Mutation A 9 GALNT8 SNP 12 A G 4700252 4700252 Baylor GNPAT 8443 hgsc.bcm.edu GRCh37 1 231401797 231401797 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000366647.4:c.810A>C p.Arg270Ser p.R270S ENST00000366647 NM_014236.3 270 agA/agC 0 Missense_Mutation A 11 GNPAT SNP 1 A C 229468420 229468420 Baylor GRIPAP1 56850 hgsc.bcm.edu GRCh37 X 48831566 48831566 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000376441.1:c.2433+1G>A p.X811_splice ENST00000376441 NM_020137.3 0 Splice_Site_SNP C 26 GRIPAP1 SNP 23 C T 48716510 48716510 Baylor GRIPAP1 56850 hgsc.bcm.edu GRCh37 X 48853699 48853699 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000376441.1:c.269G>A p.Arg90His p.R90H ENST00000376441 NM_020137.3 90 cGt/cAt 0 Missense_Mutation C 19 GRIPAP1 SNP 23 C T 48738643 48738643 Baylor ARHGAP35 2909 hgsc.bcm.edu GRCh37 19 47423159 47423159 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000404338.3:c.1227C>A p.Thr409= p.T409= ENST00000404338 NM_004491.4 409 acC/acA 0 Silent C 23 GRLF1 SNP 19 C A 52114999 52114999 Baylor HINT2 84681 hgsc.bcm.edu GRCh37 9 35813088 35813088 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000259667.5:c.455T>A p.Val152Glu p.V152E ENST00000259667 NM_032593.2 152 gTa/gAa 0 Missense_Mutation A 14 HINT2 SNP 9 A T 35803088 35803088 Baylor HTR5A 3361 hgsc.bcm.edu GRCh37 7 154863324 154863324 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000287907.2:c.715G>A p.Val239Ile p.V239I ENST00000287907 NM_024012.3 239 Gtc/Atc 0 Missense_Mutation G 40 HTR5A SNP 7 G A 154494257 154494257 Baylor INSC 387755 hgsc.bcm.edu GRCh37 11 15247329 15247330 + frameshift_variant Frame_Shift_Del DEL CT CT - novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 CT CT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000379554.3:c.1266_1267del p.Cys423GlnfsTer2 p.C423Qfs*2 ENST00000379554 NM_001031853.4 422 gcCTgc/gcgc 0 Frame_Shift_Del CT 24 INSC DEL 11 CT - 15203906 15203905 Baylor KATNA1 11104 hgsc.bcm.edu GRCh37 6 149919436 149919436 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367411.2:c.939C>G p.Ile313Met p.I313M ENST00000367411 NM_007044.3 313 atC/atG 0 Missense_Mutation G 33 KATNA1 SNP 6 G C 149961129 149961129 Baylor KCNA4 3739 hgsc.bcm.edu GRCh37 11 30033628 30033628 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328224.6:c.598A>G p.Thr200Ala p.T200A ENST00000328224 NM_002233.3 200 Act/Gct 0 Missense_Mutation T 58 KCNA4 SNP 11 T C 29990204 29990204 Baylor KIF24 347240 hgsc.bcm.edu GRCh37 9 34256771 34256771 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000379166.2:c.2834A>C p.Asp945Ala p.D945A ENST00000379166 NM_194313.2 945 gAt/gCt 0 Missense_Mutation T 50 KIF24 SNP 9 T G 34246771 34246771 Baylor KIRREL3 84623 hgsc.bcm.edu GRCh37 11 126305187 126305187 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000525144.2:c.1564A>G p.Lys522Glu p.K522E ENST00000525144 NM_032531.3 522 Aag/Gag 0 Missense_Mutation T 62 KIRREL3 SNP 11 T C 125810397 125810397 Baylor L1CAM 3897 hgsc.bcm.edu GRCh37 X 153130288 153130288 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370060.1:c.3034A>C p.Met1012Leu p.M1012L ENST00000370060 NM_001278116.1 1012 Atg/Ctg 0 Missense_Mutation T 49 L1CAM SNP 23 T G 152783482 152783482 Baylor LEPRE1 64175 hgsc.bcm.edu GRCh37 1 43213048 43213048 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000236040.4:c.1950del p.Phe651SerfsTer11 p.F651Sfs*11 ENST00000236040 NM_001243246.1 650 ggA/gg 0 Frame_Shift_Del T 50 LEPRE1 DEL 1 T - 42985635 42985635 Baylor LPCAT1 79888 hgsc.bcm.edu GRCh37 5 1489918 1489919 + frameshift_variant Frame_Shift_Ins INS - - CC novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000283415.3:c.548_549insGG p.Arg184AlafsTer5 p.R184Afs*5 ENST00000283415 NM_024830.3 183 cgc/cgGGc 0 Frame_Shift_Ins - 46 LPCAT1 INS 5 - CC 1542919 1542918 Baylor MAGEC3 139081 hgsc.bcm.edu GRCh37 X 140984668 140984668 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000298296.1:c.1124A>G p.Glu375Gly p.E375G ENST00000298296 NM_138702.1 375 gAa/gGa 0 Missense_Mutation A 9 MAGEC3 SNP 23 A G 140812334 140812334 Baylor MAP1A 4130 hgsc.bcm.edu GRCh37 15 43821296 43821296 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000300231.5:c.7625T>A p.Val2542Glu p.V2542E ENST00000300231 2542 gTg/gAg 0 Missense_Mutation T 59 MAP1A SNP 15 T A 41608588 41608588 Baylor MEP1B 4225 hgsc.bcm.edu GRCh37 18 29795144 29795144 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269202.6:c.1679G>C p.Ser560Thr p.S560T ENST00000269202 NM_005925.2 560 aGt/aCt 0 Missense_Mutation G 36 MEP1B SNP 18 G C 28049142 28049142 Baylor MUS81 80198 hgsc.bcm.edu GRCh37 11 65632780 65632780 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000308110.4:c.1491C>G p.Tyr497Ter p.Y497* ENST00000308110 NM_025128.4 497 taC/taG 0 Nonsense_Mutation C 17 MUS81 SNP 11 C G 65389356 65389356 Baylor MYH1 4619 hgsc.bcm.edu GRCh37 17 10399470 10399470 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000226207.5:c.4966G>T p.Asp1656Tyr p.D1656Y ENST00000226207 NM_005963.3 1656 Gat/Tat 0 Missense_Mutation C 30 MYH1 SNP 17 C A 10340195 10340195 Baylor NAGLU 4669 hgsc.bcm.edu GRCh37 17 40690745 40690745 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000225927.2:c.736del p.Ala246ArgfsTer54 p.A246Rfs*54 ENST00000225927 NM_000263.3 246 Gcg/cg 0 Frame_Shift_Del G 38 NAGLU DEL 17 G - 37944271 37944271 Baylor NCKAP5 344148 hgsc.bcm.edu GRCh37 2 133541716 133541716 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000409261.1:c.2668A>T p.Ser890Cys p.S890C ENST00000409261 NM_207363.2 890 Agt/Tgt 0 Missense_Mutation T 54 NCKAP5 SNP 2 T A 133258186 133258186 Baylor NDUFAF3 25915 hgsc.bcm.edu GRCh37 3 49060371 49060371 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000326925.6:c.400A>C p.Met134Leu p.M134L ENST00000326925 NM_199069.1 134 Atg/Ctg 0 Missense_Mutation A 8 NDUFAF3 SNP 3 A C 49035375 49035375 Baylor NFXL1 152518 hgsc.bcm.edu GRCh37 4 47853937 47853937 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000507489.1:c.2444G>A p.Arg815His p.R815H ENST00000507489 NM_001278624.1 815 cGt/cAt 0 Missense_Mutation C 19 NFXL1 SNP 4 C T 47548694 47548694 Baylor NOL6 65083 hgsc.bcm.edu GRCh37 9 33469658 33469658 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000297990.4:c.566T>G p.Leu189Arg p.L189R ENST00000297990 NM_022917.4 189 cTa/cGa 0 Missense_Mutation A 15 NOL6 SNP 9 A C 33459658 33459658 Baylor NR1H3 10062 hgsc.bcm.edu GRCh37 11 47281408 47281408 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000467728.1:c.110del p.Ser37ThrfsTer77 p.S37Tfs*77 ENST00000467728 37 aGc/ac 0 Frame_Shift_Del G 34 NR1H3 DEL 11 G - 47237984 47237984 Baylor NUP188 23511 hgsc.bcm.edu GRCh37 9 131761508 131761508 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372577.2:c.3573G>T p.Val1191= p.V1191= ENST00000372577 NM_015354.2 1191 gtG/gtT 0 Silent G 46 NUP188 SNP 9 G T 130801329 130801329 Baylor NUP85 79902 hgsc.bcm.edu GRCh37 17 73231685 73231685 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000245544.4:c.1882G>C p.Glu628Gln p.E628Q ENST00000245544 NM_024844.3 628 Gag/Cag 0 Missense_Mutation G 33 NUP85 SNP 17 G C 70743280 70743280 Baylor TENM4 26011 hgsc.bcm.edu GRCh37 11 78372634 78372634 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000278550.7:c.7411del p.Val2471LeufsTer15 p.V2471Lfs*15 ENST00000278550 NM_001098816.2 2471 Gtt/tt 0 Frame_Shift_Del C 17 ODZ4 DEL 11 C - 78050282 78050282 Baylor PCSK1 5122 hgsc.bcm.edu GRCh37 5 95728746 95728746 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311106.3:c.2221C>T p.Leu741= p.L741= ENST00000311106 NM_000439.4 741 Ctg/Ttg 0 Silent G 34 PCSK1 SNP 5 G A 95754502 95754502 Baylor PDZD3 79849 hgsc.bcm.edu GRCh37 11 119059206 119059207 + stop_gained,inframe_insertion Nonsense_Mutation INS - - TCATAA novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355547.5:c.1007_1008insATAATC p.Ser336_Cys337insTer p.S336_C337ins* ENST00000355547 NM_001168468.1 335 -/TCATAA 0 In_Frame_Ins - 28 PDZD3 INS 11 - TCATAA 118564417 118564416 Baylor PDZK1IP1 10158 hgsc.bcm.edu GRCh37 1 47655583 47655583 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000294338.2:c.22A>G p.Ile8Val p.I8V ENST00000294338 NM_005764.3 8 Att/Gtt 0 Missense_Mutation T 51 PDZK1IP1 SNP 1 T C 47428170 47428170 Baylor PEG3 5178 hgsc.bcm.edu GRCh37 19 57328017 57328017 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000326441.9:c.1793G>A p.Arg598His p.R598H ENST00000326441 NM_006210.2 598 cGt/cAt 0 Missense_Mutation C 19 PEG3 SNP 19 C T 62019829 62019829 Baylor PIGB 9488 hgsc.bcm.edu GRCh37 15 55631510 55631510 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000164305.5:c.840T>A p.Phe280Leu p.F280L ENST00000164305 NM_004855.4 280 ttT/ttA 0 Missense_Mutation T 63 PIGB SNP 15 T A 53418802 53418802 Baylor PIGO 84720 hgsc.bcm.edu GRCh37 9 35091522 35091523 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378617.3:c.2361dupC p.Thr788HisfsTer5 p.T788Hfs*5 ENST00000378617 NM_032634.3 787 -/C 0 Frame_Shift_Ins - 59 PIGO INS 9 - G 35081523 35081522 Baylor PRSS53 339105 hgsc.bcm.edu GRCh37 16 31098208 31098208 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000280606.6:c.254C>A p.Thr85Lys p.T85K ENST00000280606 NM_001039503.2 85 aCa/aAa 0 Missense_Mutation G 48 PRSS53 SNP 16 G T 31005709 31005709 Baylor PPHLN1 51535 hgsc.bcm.edu GRCh37 12 42768739 42768739 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395568.2:c.374G>C p.Arg125Thr p.R125T ENST00000395568 NM_016488.6 125 aGg/aCg 0 Missense_Mutation G 35 PPHLN1 SNP 12 G C 41055006 41055006 Baylor PTPN12 5782 hgsc.bcm.edu GRCh37 7 77166940 77166940 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000248594.6:c.77A>C p.Asp26Ala p.D26A ENST00000248594 NM_002835.3 26 gAc/gCc 0 Missense_Mutation A 10 PTPN12 SNP 7 A C 77004876 77004876 Baylor RNFT2 84900 hgsc.bcm.edu GRCh37 12 117287151 117287151 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000257575.4:c.1233G>C p.Trp411Cys p.W411C ENST00000257575 411 tgG/tgC 0 Missense_Mutation G 42 RNFT2 SNP 12 G C 115771534 115771534 Baylor SEC24B 10427 hgsc.bcm.edu GRCh37 4 110415906 110415906 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265175.5:c.1382A>G p.Tyr461Cys p.Y461C ENST00000265175 NM_006323.2 461 tAt/tGt 0 Missense_Mutation A 16 SEC24B SNP 4 A G 110635355 110635355 Baylor SH3PXD2A 9644 hgsc.bcm.edu GRCh37 10 105386926 105386926 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355946.2:c.638G>T p.Gly213Val p.G213V ENST00000355946 NM_014631.2 213 gGc/gTc 0 Missense_Mutation C 26 SH3PXD2A SNP 10 C A 105376916 105376916 Baylor SLC12A5 57468 hgsc.bcm.edu GRCh37 20 44665931 44665931 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000454036.2:c.588C>T p.Gly196= p.G196= ENST00000454036 NM_001134771.1 196 ggC/ggT 0 Silent C 26 SLC12A5 SNP 20 C T 44099338 44099338 Baylor SLC12A6 9990 hgsc.bcm.edu GRCh37 15 34542845 34542849 + frameshift_variant Frame_Shift_Del DEL GGTCA GGTCA - novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 GGTCA GGTCA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354181.3:c.1574_1578del p.Leu525HisfsTer17 p.L525Hfs*17 ENST00000354181 525 cTGACC/c 0 Frame_Shift_Del GGTCA 47 SLC12A6 DEL 15 GGTCA - 32330141 32330137 Baylor SLC1A5 6510 hgsc.bcm.edu GRCh37 19 47280263 47280263 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000542575.2:c.1357A>C p.Ile453Leu p.I453L ENST00000542575 NM_005628.2 453 Atc/Ctc 0 Missense_Mutation T 49 SLC1A5 SNP 19 T G 51972103 51972103 Baylor SLC34A1 6569 hgsc.bcm.edu GRCh37 5 176813281 176813281 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000324417.5:c.319A>C p.Met107Leu p.M107L ENST00000324417 NM_003052.4 107 Atg/Ctg 0 Missense_Mutation A 12 SLC34A1 SNP 5 A C 176745887 176745887 Baylor SLC5A6 8884 hgsc.bcm.edu GRCh37 2 27427689 27427689 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310574.3:c.845T>C p.Leu282Pro p.L282P ENST00000310574 NM_021095.2 282 cTc/cCc 0 Missense_Mutation A 11 SLC5A6 SNP 2 A G 27281193 27281193 Baylor SMARCAL1 50485 hgsc.bcm.edu GRCh37 2 217311806 217311806 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357276.4:c.1776G>A p.Thr592= p.T592= ENST00000357276 NM_014140.3 592 acG/acA 0 Silent G 38 SMARCAL1 SNP 2 G A 217020051 217020051 Baylor SNX19 399979 hgsc.bcm.edu GRCh37 11 130750635 130750635 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265909.4:c.2640del p.Gln881ArgfsTer17 p.Q881Rfs*17 ENST00000265909 NM_014758.2 880 ctT/ct 0 Frame_Shift_Del A 9 SNX19 DEL 11 A - 130255845 130255845 Baylor TAF6 6878 hgsc.bcm.edu GRCh37 7 99711330 99711330 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000437822.2:c.417G>A p.Arg139= p.R139= ENST00000437822 NM_001190415.1 139 cgG/cgA 0 Silent C 22 TAF6 SNP 7 C T 99549266 99549266 Baylor TBX4 9496 hgsc.bcm.edu GRCh37 17 59560377 59560377 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000240335.1:c.1138C>T p.Pro380Ser p.P380S ENST00000240335 NM_018488.2 380 Ccc/Tcc 0 Missense_Mutation C 22 TBX4 SNP 17 C T 56915159 56915159 Baylor TMEM181 57583 hgsc.bcm.edu GRCh37 6 159052417 159052417 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367090.3:c.1756T>G p.Tyr586Asp p.Y586D ENST00000367090 NM_020823.1 586 Tat/Gat 0 Missense_Mutation T 61 TMEM181 SNP 6 T G 158972405 158972405 Baylor TNFRSF10D 8793 hgsc.bcm.edu GRCh37 8 23003231 23003231 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000312584.3:c.686G>T p.Gly229Val p.G229V ENST00000312584 NM_003840.4 229 gGc/gTc 0 Missense_Mutation C 26 TNFRSF10D SNP 8 C A 23059176 23059176 Baylor TNFRSF1A 7132 hgsc.bcm.edu GRCh37 12 6442573 6442573 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000162749.2:c.432C>G p.Phe144Leu p.F144L ENST00000162749 NM_001065.3 144 ttC/ttG 0 Missense_Mutation G 45 TNFRSF1A SNP 12 G C 6312834 6312834 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578527 7578527 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000269305.4:c.403T>C p.Cys135Arg p.C135R ENST00000269305 NM_001126112.2 135 Tgc/Cgc 0 Missense_Mutation A 5 TP53 SNP 17 A G 7519252 7519252 Baylor TRAF1 7185 hgsc.bcm.edu GRCh37 9 123671654 123671655 + frameshift_variant,splice_region_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373887.3:c.885dup p.Phe296LeufsTer39 p.F296Lfs*39 ENST00000373887 NM_005658.4 295 -/C 0 Frame_Shift_Ins - 3 TRAF1 INS 9 - G 122711476 122711475 Baylor TRIM65 201292 hgsc.bcm.edu GRCh37 17 73887034 73887034 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269383.3:c.1380del p.Cys461AlafsTer37 p.C461Afs*37 ENST00000269383 NM_173547.3 460 ggC/gg 0 Frame_Shift_Del G 34 TRIM65 DEL 17 G - 71398629 71398629 Baylor TSPYL1 7259 hgsc.bcm.edu GRCh37 6 116600321 116600321 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368608.3:c.673G>T p.Glu225Ter p.E225* ENST00000368608 NM_003309.3 225 Gag/Tag 0 Nonsense_Mutation C 29 TSPYL1 SNP 6 C A 116707014 116707014 Baylor UBE3C 9690 hgsc.bcm.edu GRCh37 7 157024012 157024012 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000348165.5:c.2472G>C p.Met824Ile p.M824I ENST00000348165 NM_014671.2 824 atG/atC 0 Missense_Mutation G 46 UBE3C SNP 7 G C 156716773 156716773 Baylor USO1 8615 hgsc.bcm.edu GRCh37 4 76721617 76721617 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000538159.1:c.1704C>G p.Tyr568Ter p.Y568* ENST00000538159 568 taC/taG 0 Nonsense_Mutation C 17 USO1 SNP 4 C G 76940641 76940641 Baylor USO1 8615 hgsc.bcm.edu GRCh37 4 76721619 76721619 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000538159.1:c.1706del p.Met569ArgfsTer5 p.M569Rfs*5 ENST00000538159 569 aTg/ag 0 Frame_Shift_Del T 51 USO1 DEL 4 T - 76940643 76940643 Baylor VSIG2 23584 hgsc.bcm.edu GRCh37 11 124617502 124617502 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000326621.5:c.913G>C p.Gly305Arg p.G305R ENST00000326621 NM_014312.3 305 Ggg/Cgg 0 Missense_Mutation C 22 VSIG2 SNP 11 C G 124122712 124122712 Baylor WBSCR22 114049 hgsc.bcm.edu GRCh37 7 73112015 73112015 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000423497.1:c.833G>A p.Arg278His p.R278H ENST00000423497 NM_001202560.2 278 cGc/cAc 0 Missense_Mutation G 38 WBSCR22 SNP 7 G A 72749951 72749951 Baylor ZNF236 7776 hgsc.bcm.edu GRCh37 18 74561567 74561567 + synonymous_variant Silent SNP T T A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000253159.8:c.135T>A p.Ser45= p.S45= ENST00000253159 NM_007345.3 45 tcT/tcA 0 Silent T 56 ZNF236 SNP 18 T A 72690555 72690555 Baylor ZNF582 147948 hgsc.bcm.edu GRCh37 19 56895794 56895794 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000301310.4:c.992C>G p.Thr331Ser p.T331S ENST00000301310 NM_144690.1 331 aCt/aGt 0 Missense_Mutation G 36 ZNF582 SNP 19 G C 61587606 61587606 Baylor AKR1C4 1109 hgsc.bcm.edu GRCh37 10 5247796 5247796 + missense_variant,splice_region_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380448.1:c.446A>C p.Glu149Ala p.E149A ENST00000380448 149 gAg/gCg 0 Missense_Mutation A 11 AKR1C4 SNP 10 A C 5237796 5237796 Baylor ATP13A5 344905 hgsc.bcm.edu GRCh37 3 193042719 193042719 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000342358.4:c.1608G>A p.Leu536= p.L536= ENST00000342358 NM_198505.2 536 ctG/ctA 0 Silent C 29 ATP13A5 SNP 3 C T 194525413 194525413 Baylor BRCA1 672 hgsc.bcm.edu GRCh37 17 41245110 41245110 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357654.3:c.2438del p.Gly813AspfsTer2 p.G813Dfs*2 ENST00000357654 NM_007294.3 813 gGa/ga 0 Frame_Shift_Del C 30 BRCA1 DEL 17 C - 38498636 38498636 Baylor CDIP1 29965 hgsc.bcm.edu GRCh37 16 4562577 4562577 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399599.3:c.623G>T p.Cys208Phe p.C208F ENST00000399599 208 tGc/tTc 0 Missense_Mutation C 25 C16orf5 SNP 16 C A 4502578 4502578 Baylor C16orf70 80262 hgsc.bcm.edu GRCh37 16 67180988 67180989 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000219139.3:c.1230dupC p.Arg411GlnfsTer4 p.R411Qfs*4 ENST00000219139 NM_025187.3 408 ggc/ggCc 0 Frame_Shift_Ins - 42 C16orf70 INS 16 - C 65738490 65738489 Baylor C5orf22 55322 hgsc.bcm.edu GRCh37 5 31545772 31545772 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000325366.9:c.1012C>T p.Leu338Phe p.L338F ENST00000325366 NM_018356.2 338 Ctt/Ttt 0 Missense_Mutation C 24 C5orf22 SNP 5 C T 31581529 31581529 Baylor CNGB3 54714 hgsc.bcm.edu GRCh37 8 87679289 87679289 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000320005.5:c.716G>A p.Arg239His p.R239H ENST00000320005 NM_019098.4 239 cGc/cAc 0 Missense_Mutation C 27 CNGB3 SNP 8 C T 87748405 87748405 Baylor DDIT3 1649 hgsc.bcm.edu GRCh37 12 57910760 57910760 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000551116.1:c.411G>A p.Arg137= p.R137= ENST00000551116 NM_001195054.1 137 cgG/cgA 0 Silent C 22 DDIT3 SNP 12 T T 56197027 56197027 Baylor DUSP19 142679 hgsc.bcm.edu GRCh37 2 183943752 183943752 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354221.4:c.91A>G p.Ile31Val p.I31V ENST00000354221 NM_080876.3 31 Att/Gtt 0 Missense_Mutation A 4 DUSP19 SNP 2 A G 183651997 183651997 Baylor ERCC6L 54821 hgsc.bcm.edu GRCh37 X 71426275 71426275 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000334463.3:c.2342C>T p.Pro781Leu p.P781L ENST00000334463 NM_017669.2 781 cCc/cTc 0 Missense_Mutation G 43 ERCC6L SNP 23 G A 71343000 71343000 Baylor HHIPL2 79802 hgsc.bcm.edu GRCh37 1 222717252 222717252 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000343410.6:c.601C>T p.Pro201Ser p.P201S ENST00000343410 NM_024746.3 201 Cct/Tct 0 Missense_Mutation G 41 HHIPL2 SNP 1 G A 220783875 220783875 Baylor IL23R 149233 hgsc.bcm.edu GRCh37 1 67648526 67648526 + synonymous_variant Silent SNP A A T novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000347310.5:c.375A>T p.Pro125= p.P125= ENST00000347310 NM_144701.2 125 ccA/ccT 0 Silent A 7 IL23R SNP 1 A T 67421114 67421114 Baylor KIAA2026 158358 hgsc.bcm.edu GRCh37 9 5923031 5923031 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000399933.3:c.2965G>T p.Ala989Ser p.A989S ENST00000399933 NM_001017969.2 989 Gcc/Tcc 0 Missense_Mutation C 25 KIAA2026 SNP 9 C A 5913031 5913031 Baylor MTF2 22823 hgsc.bcm.edu GRCh37 1 93602348 93602348 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370298.4:c.1546G>T p.Val516Leu p.V516L ENST00000370298 NM_007358.3 516 Gta/Tta 0 Missense_Mutation G 48 MTF2 SNP 1 G T 93374936 93374936 Baylor NAT10 55226 hgsc.bcm.edu GRCh37 11 34158196 34158196 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000257829.3:c.2036G>A p.Ser679Asn p.S679N ENST00000257829 NM_024662.2 679 aGc/aAc 0 Missense_Mutation G 34 NAT10 SNP 11 G A 34114772 34114772 Baylor OTOF 9381 hgsc.bcm.edu GRCh37 2 26696339 26696339 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000272371.2:c.3505del p.Ser1169ArgfsTer3 p.S1169Rfs*3 ENST00000272371 NM_194248.2 1169 Tcg/cg 0 Frame_Shift_Del A 10 OTOF DEL 2 A - 26549843 26549843 Baylor PORCN 64840 hgsc.bcm.edu GRCh37 X 48374143 48374143 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000326194.6:c.985G>A p.Ala329Thr p.A329T ENST00000326194 NM_203475.1 329 Gct/Act 0 Missense_Mutation G 42 PORCN SNP 23 G A 48259087 48259087 Baylor PTK2 5747 hgsc.bcm.edu GRCh37 8 141829027 141829027 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000340930.3:c.741G>T p.Leu247= p.L247= ENST00000340930 NM_001199649.1 247 ctG/ctT 0 Silent C 17 PTK2 SNP 8 C A 141898209 141898209 Baylor SETDB2 83852 hgsc.bcm.edu GRCh37 13 50055232 50055232 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000317257.8:c.1172C>A p.Thr391Lys p.T391K ENST00000317257 NM_031915.2 391 aCa/aAa 0 Missense_Mutation C 17 SETDB2 SNP 13 C A 48953233 48953233 Baylor SCAF11 9169 hgsc.bcm.edu GRCh37 12 46320485 46320489 + frameshift_variant Frame_Shift_Del DEL TTTTC TTTTC - novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 TTTTC TTTTC . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369367.3:c.2995_2999del p.Glu999LysfsTer2 p.E999Kfs*2 ENST00000369367 NM_004719.2 999 GAAAAa/a 0 Frame_Shift_Del TTTTC 64 SRSF2IP DEL 12 TTTTC - 44606756 44606752 Baylor SLITRK1 114798 hgsc.bcm.edu GRCh37 13 84455109 84455109 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377084.2:c.534C>A p.Pro178= p.P178= ENST00000377084 NM_052910.2 178 ccC/ccA 0 Silent G 47 SLITRK1 SNP 13 G T 83353110 83353110 Baylor TAF3 83860 hgsc.bcm.edu GRCh37 10 8006885 8006885 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000344293.5:c.1412A>G p.Asp471Gly p.D471G ENST00000344293 NM_031923.3 471 gAt/gGt 0 Missense_Mutation A 12 TAF3 SNP 10 A G 8046891 8046891 Baylor TMEM180 79847 hgsc.bcm.edu GRCh37 10 104229753 104229753 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000238936.4:c.172G>C p.Val58Leu p.V58L ENST00000238936 NM_024789.3 58 Gtg/Ctg 0 Missense_Mutation G 36 TMEM180 SNP 10 G C 104219743 104219743 Baylor TMPO 7112 hgsc.bcm.edu GRCh37 12 98921763 98921763 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000266732.4:c.379T>C p.Tyr127His p.Y127H ENST00000266732 NM_003276.2 127 Tac/Cac 0 Missense_Mutation T 49 TMPO SNP 12 T C 97445894 97445894 Baylor VILL 50853 hgsc.bcm.edu GRCh37 3 38043303 38043304 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000283713.6:c.1438dupC p.His480ProfsTer38 p.H480Pfs*38 ENST00000283713 477 -/C 0 Frame_Shift_Ins - 34 VILL INS 3 - C 38018308 38018307 Baylor MAP3K19 80122 hgsc.bcm.edu GRCh37 2 135744151 135744151 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375845.3:c.2291A>T p.Glu764Val p.E764V ENST00000375845 NM_025052.3 764 gAa/gTa 0 Missense_Mutation T 62 YSK4 SNP 2 T A 135460621 135460621 Baylor ZEB1 6935 hgsc.bcm.edu GRCh37 10 31791301 31791301 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361642.5:c.348T>A p.Asp116Glu p.D116E ENST00000361642 NM_001174093.1 116 gaT/gaA 0 Missense_Mutation T 51 ZEB1 SNP 10 T A 31831307 31831307 Baylor ZNF554 115196 hgsc.bcm.edu GRCh37 19 2832405 2832405 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-23-1026-01 TCGA-23-1026-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000317243.5:c.358del p.Leu120PhefsTer18 p.L120Ffs*18 ENST00000317243 NM_001102651.1 120 Ctt/tt 0 Frame_Shift_Del C 20 ZNF554 DEL 19 C - 2783405 2783405 Baylor B3GAT1 27087 hgsc.bcm.edu GRCh37 11 134257523 134257523 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000524765.1:c.31G>A p.Val11Ile p.V11I ENST00000524765 11 Gtc/Atc 0 Missense_Mutation C 19 B3GAT1 SNP 11 C T 133762733 133762733 Baylor COL11A2 1302 hgsc.bcm.edu GRCh37 6 33132638 33132638 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000374708.4:c.4596C>T p.Asp1532= p.D1532= ENST00000374708 NM_080681.2 1532 gaC/gaT 0 Silent G 40 COL11A2 SNP 6 G A 33240616 33240616 Baylor FURIN 5045 hgsc.bcm.edu GRCh37 15 91424682 91424682 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000268171.3:c.1959G>C p.Gly653= p.G653= ENST00000268171 NM_002569.2 653 ggG/ggC 0 Silent G 42 FURIN SNP 15 C C 89225686 89225686 Baylor IGHMBP2 3508 hgsc.bcm.edu GRCh37 11 68703762 68703762 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000255078.3:c.1814del p.Arg605HisfsTer19 p.R605Hfs*19 ENST00000255078 NM_002180.2 605 cGa/ca 0 Frame_Shift_Del G 37 IGHMBP2 DEL 11 G - 68460338 68460338 Baylor KIF2B 84643 hgsc.bcm.edu GRCh37 17 51900722 51900722 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000268919.4:c.328C>T p.Arg110Cys p.R110C ENST00000268919 NM_032559.4 110 Cgt/Tgt 0 Missense_Mutation C 27 KIF2B SNP 17 C T 49255721 49255721 Baylor LRP1B 53353 hgsc.bcm.edu GRCh37 2 141460038 141460038 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000389484.3:c.6108C>G p.Ser2036Arg p.S2036R ENST00000389484 NM_018557.2 2036 agC/agG 0 Missense_Mutation G 46 LRP1B SNP 2 G C 141176508 141176508 Baylor LRP5 4041 hgsc.bcm.edu GRCh37 11 68115539 68115539 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000294304.7:c.316G>A p.Gly106Ser p.G106S ENST00000294304 NM_002335.2 106 Ggc/Agc 0 Missense_Mutation G 39 LRP5 SNP 11 G A 67872115 67872115 Baylor MRPL9 65005 hgsc.bcm.edu GRCh37 1 151733953 151733953 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368830.3:c.562A>G p.Ile188Val p.I188V ENST00000368830 NM_031420.2 188 Ata/Gta 0 Missense_Mutation T 52 MRPL9 SNP 1 T C 150000577 150000577 Baylor KAT6B 23522 hgsc.bcm.edu GRCh37 10 76781908 76781908 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000287239.4:c.3291A>G p.Glu1097= p.E1097= ENST00000287239 NM_001256468.1 1097 gaA/gaG 0 Silent A 3 MYST4 SNP 10 A G 76451914 76451914 Baylor PIKFYVE 200576 hgsc.bcm.edu GRCh37 2 209200816 209200816 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264380.4:c.4412G>A p.Arg1471Lys p.R1471K ENST00000264380 NM_015040.3 1471 aGg/aAg 0 Missense_Mutation G 35 PIKFYVE SNP 2 G A 208909061 208909061 Baylor SLCO1C1 53919 hgsc.bcm.edu GRCh37 12 20876071 20876071 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381552.1:c.1069C>A p.Leu357Ile p.L357I ENST00000381552 357 Cta/Ata 0 Missense_Mutation C 24 SLCO1C1 SNP 12 C A 20767338 20767338 Baylor TBX5 6910 hgsc.bcm.edu GRCh37 12 114832691 114832691 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000310346.4:c.518T>A p.Leu173Gln p.L173Q ENST00000310346 NM_000192.3 173 cTa/cAa 0 Missense_Mutation A 15 TBX5 SNP 12 A T 113317074 113317074 Baylor TET1 80312 hgsc.bcm.edu GRCh37 10 70426853 70426853 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373644.4:c.4513C>T p.Arg1505Cys p.R1505C ENST00000373644 NM_030625.2 1505 Cgt/Tgt 0 Missense_Mutation C 27 TET1 SNP 10 C T 70096859 70096859 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577559 7577559 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.722C>A p.Ser241Tyr p.S241Y ENST00000269305 NM_001126112.2 241 tCc/tAc 0 Missense_Mutation G 41 TP53 SNP 17 G T 7518284 7518284 Baylor TRIM68 55128 hgsc.bcm.edu GRCh37 11 4622020 4622020 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000300747.5:c.944G>A p.Arg315His p.R315H ENST00000300747 NM_018073.6 315 cGt/cAt 0 Missense_Mutation C 19 TRIM68 SNP 11 C T 4578596 4578596 Baylor VAV1 7409 hgsc.bcm.edu GRCh37 19 6832147 6832147 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000602142.1:c.1444T>C p.Tyr482His p.Y482H ENST00000602142 NM_005428.3 482 Tat/Cat 0 Missense_Mutation T 53 VAV1 SNP 19 T C 6783147 6783147 Baylor VSIG2 23584 hgsc.bcm.edu GRCh37 11 124618611 124618611 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000326621.5:c.635C>T p.Ser212Leu p.S212L ENST00000326621 NM_014312.3 212 tCg/tTg 0 Missense_Mutation G 37 VSIG2 SNP 11 G A 124123821 124123821 Baylor WDR70 55100 hgsc.bcm.edu GRCh37 5 37703068 37703068 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000265107.4:c.1295G>C p.Ser432Thr p.S432T ENST00000265107 NM_018034.2 432 aGt/aCt 0 Missense_Mutation G 36 WDR70 SNP 5 G C 37738825 37738825 Baylor XYLT1 64131 hgsc.bcm.edu GRCh37 16 17228351 17228351 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261381.6:c.2006C>T p.Thr669Met p.T669M ENST00000261381 NM_022166.3 669 aCg/aTg 0 Missense_Mutation G 40 XYLT1 SNP 16 G A 17135852 17135852 Baylor ZNF132 7691 hgsc.bcm.edu GRCh37 19 58945403 58945403 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000254166.3:c.1408C>G p.Gln470Glu p.Q470E ENST00000254166 NM_003433.3 470 Caa/Gaa 0 Missense_Mutation G 47 ZNF132 SNP 19 G C 63637215 63637215 Baylor ZNF432 9668 hgsc.bcm.edu GRCh37 19 52543795 52543795 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1545-01 TCGA-24-1545-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000594154.1:c.184C>T p.Arg62Ter p.R62* ENST00000594154 62 Cga/Tga 0 Nonsense_Mutation G 40 ZNF432 SNP 19 G A 57235607 57235607 Baylor FAM193A 8603 genome.wustl.edu GRCh37 4 2661684 2661684 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324666.5:c.775G>A p.Val259Met p.V259M ENST00000324666 NM_001256666.1 259 Gtg/Atg 0 Missense_Mutation G 48 FAM193A SNP 4 G A 2631482 2631482 WashU SFMBT2 57713 genome.wustl.edu GRCh37 10 7239537 7239537 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361972.4:c.1671G>C p.Pro557= p.P557= ENST00000361972 NM_001018039.1 557 ccG/ccC 0 Silent C 23 SFMBT2 SNP 10 C G 7279543 7279543 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578265 7578265 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.584T>C p.Ile195Thr p.I195T ENST00000269305 NM_001126112.2 195 aTc/aCc 0 Missense_Mutation A 12 TP53 SNP 17 G G 7518990 7518990 WashU KIN 22944 genome.wustl.edu GRCh37 10 7822036 7822036 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379562.4:c.359A>G p.Lys120Arg p.K120R ENST00000379562 NM_012311.3 120 aAg/aGg 0 Missense_Mutation T 56 KIN SNP 10 T C 7862042 7862042 WashU SLC7A2 6542 genome.wustl.edu GRCh37 8 17407850 17407850 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000004531.10:c.859G>C p.Gly287Arg p.G287R ENST00000004531 NM_001164771.1 287 Ggt/Cgt 0 Missense_Mutation G 47 SLC7A2 SNP 8 G C 17452228 17452228 WashU MIB1 57534 genome.wustl.edu GRCh37 18 19429212 19429212 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261537.6:c.2449G>C p.Glu817Gln p.E817Q ENST00000261537 NM_020774.3 817 Gaa/Caa 0 Missense_Mutation G 33 MIB1 SNP 18 G C 17683210 17683210 WashU CENPIP1 100128765 genome.wustl.edu GRCh37 13 19703176 19703176 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000425713.1:n.411G>T *137* ENST00000425713 0 Missense_Mutation G 44 LOC100128765 SNP 13 G T 18601176 18601176 WashU POTEB2 100287399 genome.wustl.edu GRCh37 15 21071298 21071298 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000454856.4:c.313A>C p.Lys105Gln p.K105Q ENST00000454856 NM_001277303.1 105 Aag/Cag 0 Missense_Mutation T 63 POTEB SNP 15 T G 19335877 19335877 WashU OR4M2 390538 genome.wustl.edu GRCh37 15 22368759 22368759 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332663.2:c.184C>A p.Leu62Met p.L62M ENST00000332663 NM_001004719.2 62 Ctg/Atg 0 Missense_Mutation C 24 OR4M2 SNP 15 C A 19870123 19870123 WashU IGLV3-21 genome.wustl.edu GRCh37 22 23055635 23055635 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000390308.2:c.298G>C p.Asp100His p.D100H ENST00000390308 100 Gat/Cat 0 Missense_Mutation G 41 IGL@ SNP 22 G C 21385635 21385635 WashU CHRNA7 1139 genome.wustl.edu GRCh37 15 32450703 32450703 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000454250.3:c.776C>T p.Thr259Met p.T259M ENST00000454250 NM_001190455.2 259 aCg/aTg 0 Missense_Mutation C 19 CHRNA7 SNP 15 C T 30237995 30237995 WashU PCDH7 5099 genome.wustl.edu GRCh37 4 30726071 30726071 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000543491.1:c.3027C>T p.Pro1009= p.P1009= ENST00000543491 1009 ccC/ccT 0 Silent C 22 PCDH7 SNP 4 C T 30335169 30335169 WashU C16orf58 64755 genome.wustl.edu GRCh37 16 31510846 31510846 + splice_region_variant,synonymous_variant Splice_Region SNP C C A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000327237.2:c.462G>T p.Gly154= p.G154= ENST00000327237 NM_022744.3 154 ggG/ggT 0 Silent C 30 C16orf58 SNP 16 C A 31418347 31418347 WashU KIAA1551 55196 genome.wustl.edu GRCh37 12 32145408 32145408 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000312561.4:c.5183C>A p.Thr1728Asn p.T1728N ENST00000312561 NM_018169.3 1728 aCc/aAc 0 Missense_Mutation C 18 C12orf35 SNP 12 C A 32036675 32036675 WashU KRTAP9-7 100505724 genome.wustl.edu GRCh37 17 39432035 39432035 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000391354.1:c.86G>A p.Ser29Asn p.S29N ENST00000391354 NM_001277332.1 29 aGc/aAc 0 Missense_Mutation G 34 LOC728341 SNP 17 G A 36685561 36685561 WashU HAP1 9001 genome.wustl.edu GRCh37 17 39889011 39889011 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000347901.4:c.509C>G p.Thr170Ser p.T170S ENST00000347901 NM_177977.2 170 aCc/aGc 0 Missense_Mutation G 44 HAP1 SNP 17 G C 37142537 37142537 WashU KNSTRN 90417 genome.wustl.edu GRCh37 15 40684206 40684206 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000249776.8:c.804G>A p.Lys268= p.K268= ENST00000249776 NM_033286.3 268 aaG/aaA 0 Silent G 34 C15orf23 SNP 15 G A 38471498 38471498 WashU KCNK16 83795 genome.wustl.edu GRCh37 6 39285600 39285600 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000425054.2:c.457G>A p.Ala153Thr p.A153T ENST00000425054 NM_001135105.1 153 Gcc/Acc 0 Missense_Mutation C 27 KCNK16 SNP 6 C T 39393578 39393578 WashU PTPRT 11122 genome.wustl.edu GRCh37 20 40770604 40770604 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373198.4:c.2778C>T p.Ala926= p.A926= ENST00000373198 NM_133170.3 926 gcC/gcT 0 Silent G 47 PTPRT SNP 20 G A 40204018 40204018 WashU NRXN1 9378 genome.wustl.edu GRCh37 2 50149200 50149200 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000404971.1:c.4526G>T p.Arg1509Leu p.R1509L ENST00000404971 NM_001135659.1 1509 cGa/cTa 0 Missense_Mutation C 31 NRXN1 SNP 2 C A 50002704 50002704 WashU DOCK3 1795 genome.wustl.edu GRCh37 3 51274942 51274942 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000266037.9:c.2023C>T p.Arg675Ter p.R675* ENST00000266037 NM_004947.4 675 Cga/Tga 0 Nonsense_Mutation C 23 DOCK3 SNP 3 C T 51249982 51249982 WashU GZMA 3001 genome.wustl.edu GRCh37 5 54404085 54404085 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274306.6:c.490G>A p.Asp164Asn p.D164N ENST00000274306 NM_006144.3 164 Gat/Aat 0 Missense_Mutation G 37 GZMA SNP 5 G A 54439842 54439842 WashU LOC728416 728416 genome.wustl.edu GRCh37 7 56804101 56804101 + IGR SNP A A C novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 A A A C A C Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 0 Missense_Mutation A 5 LOC728416 SNP 7 A C 56771595 56771595 WashU CDH8 1006 genome.wustl.edu GRCh37 16 61689507 61689507 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000577390.1:c.1773C>A p.Thr591= p.T591= ENST00000577390 NM_001796.4 591 acC/acA 0 Silent G 35 CDH8 SNP 16 G T 60247008 60247008 WashU VWCE 220001 genome.wustl.edu GRCh37 11 61041992 61041992 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335613.5:c.1560G>A p.Glu520= p.E520= ENST00000335613 NM_152718.2 520 gaG/gaA 0 Silent C 20 VWCE SNP 11 C T 60798568 60798568 WashU KHDRBS2 202559 genome.wustl.edu GRCh37 6 62611219 62611219 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000281156.4:c.541T>A p.Ser181Thr p.S181T ENST00000281156 NM_152688.2 181 Tca/Aca 0 Missense_Mutation A 11 KHDRBS2 SNP 6 A T 62669178 62669178 WashU ETAA1 54465 genome.wustl.edu GRCh37 2 67637095 67637095 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272342.5:c.2706A>T p.Arg902Ser p.R902S ENST00000272342 NM_019002.3 902 agA/agT 0 Missense_Mutation A 10 ETAA1 SNP 2 A T 67490599 67490599 WashU ACRC 93953 genome.wustl.edu GRCh37 X 70812007 70812007 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000373695.1:c.95C>G p.Thr32Ser p.T32S ENST00000373695 32 aCc/aGc 0 Missense_Mutation C 18 ACRC SNP 23 C G 70728732 70728732 WashU AMBN 258 genome.wustl.edu GRCh37 4 71472119 71472119 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000322937.6:c.1016C>A p.Pro339Gln p.P339Q ENST00000322937 NM_016519.5 339 cCa/cAa 0 Missense_Mutation C 21 AMBN SNP 4 C A 71506708 71506708 WashU ALMS1 7840 genome.wustl.edu GRCh37 2 73680484 73680484 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000264448.6:c.6827G>C p.Cys2276Ser p.C2276S ENST00000264448 NM_015120.4 2276 tGc/tCc 0 Missense_Mutation G 46 ALMS1 SNP 2 G C 73533992 73533992 WashU C1orf173 127254 genome.wustl.edu GRCh37 1 75086505 75086505 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326665.5:c.913C>A p.Pro305Thr p.P305T ENST00000326665 NM_001002912.4 305 Cct/Act 0 Missense_Mutation G 41 C1orf173 SNP 1 G T 74859093 74859093 WashU GNA14 9630 genome.wustl.edu GRCh37 9 80049381 80049381 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341700.6:c.367G>T p.Glu123Ter p.E123* ENST00000341700 NM_004297.3 123 Gag/Tag 0 Nonsense_Mutation C 30 GNA14 SNP 9 C A 79239201 79239201 WashU VCAN 1462 genome.wustl.edu GRCh37 5 82836625 82836625 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265077.3:c.7803A>C p.Val2601= p.V2601= ENST00000265077 NM_004385.4 2601 gtA/gtC 0 Silent A 14 VCAN SNP 5 A C 82872381 82872381 WashU IGKV1D-8 genome.wustl.edu GRCh37 2 90260042 90260042 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000471857.1:c.145C>G p.Gln49Glu p.Q49E ENST00000471857 49 Cag/Gag 0 Missense_Mutation C 29 ENSG00000211635 SNP 2 C G 89897347 89897347 WashU FAT3 120114 genome.wustl.edu GRCh37 11 92085537 92085537 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298047.6:c.259G>A p.Asp87Asn p.D87N ENST00000298047 87 Gac/Aac 0 Missense_Mutation G 33 FAT3 SNP 11 G A 91725185 91725185 WashU TGFBR3 7049 genome.wustl.edu GRCh37 1 92185570 92185570 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000212355.4:c.1293C>T p.Ser431= p.S431= ENST00000212355 NM_001195683.1 431 agC/agT 0 Silent G 46 TGFBR3 SNP 1 G A 91958158 91958158 WashU CCDC132 55610 genome.wustl.edu GRCh37 7 92985338 92985338 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000305866.5:c.2721T>G p.Ile907Met p.I907M ENST00000305866 NM_017667.3 907 atT/atG 0 Missense_Mutation T 61 CCDC132 SNP 7 T G 92823274 92823274 WashU UNC79 57578 genome.wustl.edu GRCh37 14 94079386 94079386 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256339.4:c.3467G>A p.Arg1156His p.R1156H ENST00000256339 NM_020818.3 1156 cGc/cAc 0 Missense_Mutation G 38 KIAA1409 SNP 14 G A 93149139 93149139 WashU MBLAC1 255374 genome.wustl.edu GRCh37 7 99725216 99725216 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C A A A A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398075.2:c.198C>A p.Gly66= p.G66= ENST00000398075 NM_203397.1 66 ggC/ggA 0 Silent C 27 LOC255374 SNP 7 A A 99563152 99563152 WashU TRMT10C 54931 genome.wustl.edu GRCh37 3 101284410 101284410 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000309922.6:c.785A>G p.Tyr262Cys p.Y262C ENST00000309922 NM_017819.3 262 tAt/tGt 0 Missense_Mutation A 16 RG9MTD1 SNP 3 A G 102767100 102767100 WashU RINT1 60561 genome.wustl.edu GRCh37 7 105187424 105187424 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000257700.2:c.583G>T p.Ala195Ser p.A195S ENST00000257700 NM_021930.4 195 Gca/Tca 0 Missense_Mutation G 42 RINT1 SNP 7 G T 104974660 104974660 WashU SLC26A4 5172 genome.wustl.edu GRCh37 7 107342418 107342418 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265715.3:c.1950T>C p.Val650= p.V650= ENST00000265715 NM_000441.1 650 gtT/gtC 0 Silent T 62 SLC26A4 SNP 7 T C 107129654 107129654 WashU COL4A5 1287 genome.wustl.edu GRCh37 X 107683417 107683417 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328300.6:c.62G>A p.Gly21Glu p.G21E ENST00000328300 NM_033380.2 21 gGg/gAg 0 Missense_Mutation G 43 COL4A5 SNP 23 G A 107570073 107570073 WashU ARHGAP20 57569 genome.wustl.edu GRCh37 11 110450709 110450709 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260283.4:c.2961C>A p.Asp987Glu p.D987E ENST00000260283 NM_020809.3 987 gaC/gaA 0 Missense_Mutation G 44 ARHGAP20 SNP 11 G T 109955919 109955919 WashU ING1 3621 genome.wustl.edu GRCh37 13 111372144 111372144 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375774.3:c.1134G>T p.Trp378Cys p.W378C ENST00000375774 NM_005537.4 378 tgG/tgT 0 Missense_Mutation G 44 ING1 SNP 13 T T 110170145 110170145 WashU CASP6 839 genome.wustl.edu GRCh37 4 110619483 110619483 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265164.2:c.56T>G p.Met19Arg p.M19R ENST00000265164 NM_001226.3 19 aTg/aGg 0 Missense_Mutation A 8 CASP6 SNP 4 A C 110838932 110838932 WashU LCT 3938 genome.wustl.edu GRCh37 2 136594681 136594681 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264162.2:c.59C>A p.Ser20Ter p.S20* ENST00000264162 NM_002299.2 20 tCa/tAa 0 Nonsense_Mutation G 45 LCT SNP 2 G T 136311151 136311151 WashU PCDHB13 56123 genome.wustl.edu GRCh37 5 140595880 140595880 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000341948.4:c.2185G>A p.Glu729Lys p.E729K ENST00000341948 NM_018933.2 729 Gag/Aag 0 Missense_Mutation G 37 PCDHB13 SNP 5 G A 140576064 140576064 WashU MAGEC2 51438 genome.wustl.edu GRCh37 X 141291064 141291064 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000247452.3:c.710T>C p.Ile237Thr p.I237T ENST00000247452 NM_016249.3 237 aTc/aCc 0 Missense_Mutation A 12 MAGEC2 SNP 23 A G 141118730 141118730 WashU ANP32C 23520 genome.wustl.edu GRCh37 4 165118803 165118803 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000512835.1:n.61G>A *21* ENST00000512835 0 Missense_Mutation C 32 ANP32C SNP 4 C T 165338253 165338253 WashU STX6 10228 genome.wustl.edu GRCh37 1 180959145 180959145 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258301.5:c.464T>C p.Ile155Thr p.I155T ENST00000258301 NM_005819.4 155 aTt/aCt 0 Missense_Mutation A 4 STX6 SNP 1 A G 179225768 179225768 WashU OR2V2 285659 genome.wustl.edu GRCh37 5 180582342 180582342 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328275.1:c.400C>A p.Pro134Thr p.P134T ENST00000328275 NM_206880.1 134 Ccc/Acc 0 Missense_Mutation C 30 OR2V2 SNP 5 C A 180514948 180514948 WashU RD3 343035 genome.wustl.edu GRCh37 1 211654728 211654728 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367002.4:c.30C>T p.Asn10= p.N10= ENST00000367002 NM_001164688.1 10 aaC/aaT 0 Silent G 40 RD3 SNP 1 G A 209721351 209721351 WashU SI 6476 genome.wustl.edu GRCh37 3 164777005 164777005 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 T T C T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000264382.3:c.1229A>G p.Gln410Arg p.Q410R ENST00000264382 NM_001041.3 410 cAa/cGa 0 Missense_Mutation T 63 SI SNP 3 C T 166259699 166259699 WashU EVI5 7813 genome.wustl.edu GRCh37 1 93169005 93169006 + missense_variant Missense_Mutation DNP AG AG GA novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370331.1:c.642_643delinsTC p.Phe215Leu p.F215L ENST00000370331 NM_005665.4 214 aaCTtt/aaTCtt 0 Missense AG 3 EVI5 DNP 1 AG GA 92941594 92941593 WashU ZNF492 57615 genome.wustl.edu GRCh37 19 22817278 22817278 + splice_donor_variant Splice_Site SNP T T A novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000456783.2:c.-94+2T>A p.X32_splice ENST00000456783 NM_020855.2 0 Splice_Site_SNP T 59 ZNF492 SNP 19 T A 22609118 22609118 WashU CEP250 11190 genome.wustl.edu GRCh37 20 34091857 34091857 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397527.1:c.5660A>G p.Glu1887Gly p.E1887G ENST00000397527 NM_007186.3 1887 gAg/gGg 0 Missense_Mutation A 11 CEP250 SNP 20 A G 33555271 33555271 WashU STBD1 8987 genome.wustl.edu GRCh37 4 77230934 77230934 + missense_variant Missense_Mutation SNP C C A Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C C A C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000237642.6:c.858C>A p.Asp286Glu p.D286E ENST00000237642 NM_003943.4 286 gaC/gaA 0 Missense_Mutation C 18 STBD1 SNP 4 C A 77449958 77449958 WashU IL13 3596 genome.wustl.edu GRCh37 5 131994030 131994030 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304506.3:c.152T>G p.Val51Gly p.V51G ENST00000304506 NM_002188.2 51 gTc/gGc 0 Missense_Mutation T 58 IL13 SNP 5 T G 132021929 132021929 WashU OR12D2 26529 genome.wustl.edu GRCh37 6 29365185 29365185 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1424-01 TCGA-24-1424-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000383555.2:c.709C>T p.Leu237= p.L237= ENST00000383555 NM_013936.3 237 Ctg/Ttg 0 Silent C 20 OR12D2 SNP 6 C T 29473164 29473164 WashU ECE1 1889 broad.mit.edu GRCh37 1 21571547 21571547 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000374893.6:c.1213T>G p.Phe405Val p.F405V ENST00000374893 NM_001397.2 405 Ttc/Gtc 0 Missense_Mutation A 3 ECE1 SNP 1 A C 21444134 21444134 Broad PTPRU 10076 broad.mit.edu GRCh37 1 29631874 29631874 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000345512.3:c.2784C>A p.His928Gln p.H928Q ENST00000345512 NM_005704.4 928 caC/caA 0 Missense_Mutation C 18 PTPRU SNP 1 C A 29504461 29504461 Broad PODN 127435 broad.mit.edu GRCh37 1 53540316 53540316 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000312553.5:c.589A>C p.Asn197His p.N197H ENST00000312553 NM_001199081.1 197 Aat/Cat 0 Missense_Mutation A 5 PODN SNP 1 A C 53312904 53312904 Broad LPPR4 9890 broad.mit.edu GRCh37 1 99771604 99771604 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000370185.3:c.1330T>A p.Ser444Thr p.S444T ENST00000370185 NM_014839.4 444 Tca/Aca 0 Missense_Mutation T 50 LPPR4 SNP 1 T A 99544192 99544192 Broad SHE 126669 broad.mit.edu GRCh37 1 154461579 154461579 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000304760.2:c.972G>T p.Glu324Asp p.E324D ENST00000304760 NM_001010846.2 324 gaG/gaT 0 Missense_Mutation C 20 SHE SNP 1 C A 152728203 152728203 Broad INSRR 3645 broad.mit.edu GRCh37 1 156823766 156823766 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000368195.3:c.415G>C p.Val139Leu p.V139L ENST00000368195 NM_014215.2 139 Gtg/Ctg 0 Missense_Mutation C 17 INSRR SNP 1 C G 155090390 155090390 Broad SPTA1 6708 broad.mit.edu GRCh37 1 158651358 158651358 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000368147.4:c.490G>C p.Val164Leu p.V164L ENST00000368147 NM_003126.2 164 Gta/Cta 0 Missense_Mutation C 17 SPTA1 SNP 1 C G 156917982 156917982 Broad AIM2 9447 broad.mit.edu GRCh37 1 159036107 159036107 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000368130.4:c.409C>A p.Gln137Lys p.Q137K ENST00000368130 NM_004833.1 137 Cag/Aag 0 Missense_Mutation G 48 AIM2 SNP 1 G T 157302731 157302731 Broad HMCN1 83872 broad.mit.edu GRCh37 1 185834950 185834950 + synonymous_variant Silent SNP A A C novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000271588.4:c.576A>C p.Thr192= p.T192= ENST00000271588 NM_031935.2 192 acA/acC 0 Silent A 5 HMCN1 SNP 1 A C 184101573 184101573 Broad CACNA1S 779 broad.mit.edu GRCh37 1 201039521 201039521 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000362061.3:c.2239G>A p.Glu747Lys p.E747K ENST00000362061 NM_000069.2 747 Gaa/Aaa 0 Missense_Mutation C 30 CACNA1S SNP 1 C T 199306144 199306144 Broad PFKFB3 5209 broad.mit.edu GRCh37 10 6262679 6262679 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000379775.4:c.682C>T p.Gln228Ter p.Q228* ENST00000379775 NM_004566.3 228 Cag/Tag 0 Nonsense_Mutation C 25 PFKFB3 SNP 10 C T 6302685 6302685 Broad KRTAP5-3 387266 broad.mit.edu GRCh37 11 1629565 1629565 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000399685.1:c.51T>C p.Cys17= p.C17= ENST00000399685 NM_001012708.2 17 tgT/tgC 0 Silent A 6 KRTAP5-3 SNP 11 A G 1586141 1586141 Broad ACCSL 390110 broad.mit.edu GRCh37 11 44075012 44075012 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000378832.1:c.1005C>A p.Ile335= p.I335= ENST00000378832 NM_001031854.2 335 atC/atA 0 Silent C 32 ACCSL SNP 11 C A 44031588 44031588 Broad NUP160 23279 broad.mit.edu GRCh37 11 47869819 47869819 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000378460.2:c.154G>C p.Glu52Gln p.E52Q ENST00000378460 NM_015231.1 52 Gag/Cag 0 Missense_Mutation C 29 NUP160 SNP 11 C G 47826395 47826395 Broad FADD 8772 broad.mit.edu GRCh37 11 70052294 70052294 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000301838.4:c.342G>C p.Arg114Ser p.R114S ENST00000301838 NM_003824.3 114 agG/agC 0 Missense_Mutation G 42 FADD SNP 11 G C 69729942 69729942 Broad RSF1 51773 broad.mit.edu GRCh37 11 77378188 77378188 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000308488.6:c.4100A>G p.Asp1367Gly p.D1367G ENST00000308488 1367 gAc/gGc 0 Missense_Mutation T 58 RSF1 SNP 11 T C 77055836 77055836 Broad CARD18 59082 broad.mit.edu GRCh37 11 105009751 105009751 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000530950.1:c.62C>A p.Thr21Lys p.T21K ENST00000530950 NM_021571.3 21 aCa/aAa 0 Missense_Mutation G 48 CARD18 SNP 11 G T 104514961 104514961 Broad VWF 7450 broad.mit.edu GRCh37 12 6128552 6128552 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000261405.5:c.4032C>T p.Ala1344= p.A1344= ENST00000261405 NM_000552.3 1344 gcC/gcT 0 Silent G 47 VWF SNP 12 G A 5998813 5998813 Broad RBP5 83758 broad.mit.edu GRCh37 12 7280886 7280886 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000266560.3:c.202G>C p.Gly68Arg p.G68R ENST00000266560 NM_031491.2 68 Gga/Cga 0 Missense_Mutation C 22 RBP5 SNP 12 C G 7172153 7172153 Broad CD163L1 283316 broad.mit.edu GRCh37 12 7527906 7527906 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000313599.3:c.2972A>G p.His991Arg p.H991R ENST00000313599 991 cAt/cGt 0 Missense_Mutation T 51 CD163L1 SNP 12 T C 7419173 7419173 Broad PXN 5829 broad.mit.edu GRCh37 12 120652010 120652010 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000267257.7:c.1331C>G p.Thr444Arg p.T444R ENST00000267257 NM_001243756.1 444 aCa/aGa 0 Missense_Mutation G 48 PXN SNP 12 G C 119136393 119136393 Broad RNF31 55072 broad.mit.edu GRCh37 14 24619652 24619652 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000324103.6:c.1192C>A p.Leu398Ile p.L398I ENST00000324103 NM_017999.4 398 Ctt/Att 0 Missense_Mutation C 24 RNF31 SNP 14 C A 23689492 23689492 Broad SHC4 399694 broad.mit.edu GRCh37 15 49160022 49160022 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000332408.4:c.939T>C p.Asn313= p.N313= ENST00000332408 NM_203349.3 313 aaT/aaC 0 Silent A 12 SHC4 SNP 15 A G 46947314 46947314 Broad HCN4 10021 broad.mit.edu GRCh37 15 73617422 73617422 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000261917.3:c.1852C>A p.Pro618Thr p.P618T ENST00000261917 NM_005477.2 618 Cct/Act 0 Missense_Mutation G 42 HCN4 SNP 15 G T 71404475 71404475 Broad PPL 5493 broad.mit.edu GRCh37 16 4940197 4940197 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000345988.2:c.2301G>A p.Leu767= p.L767= ENST00000345988 NM_002705.4 767 ctG/ctA 0 Silent C 29 PPL SNP 16 C T 4880198 4880198 Broad DCUN1D3 123879 broad.mit.edu GRCh37 16 20873513 20873513 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000324344.4:c.348T>C p.Asn116= p.N116= ENST00000324344 NM_173475.2 116 aaT/aaC 0 Silent A 8 DCUN1D3 SNP 16 A G 20781014 20781014 Broad PRSS36 146547 broad.mit.edu GRCh37 16 31154693 31154693 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000268281.4:c.1070G>A p.Trp357Ter p.W357* ENST00000268281 NM_173502.4 357 tGg/tAg 0 Nonsense_Mutation C 21 PRSS36 SNP 16 C T 31062194 31062194 Broad ARMC5 79798 broad.mit.edu GRCh37 16 31476261 31476261 + intron_variant Intron SNP C C A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000268314.4:c.1864+53C>A *622* ENST00000268314 NM_001105247.1 0 Silent C 22 ARMC5 SNP 16 C A 31383762 31383762 Broad CNOT1 23019 broad.mit.edu GRCh37 16 58576378 58576378 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000317147.5:c.4529C>G p.Thr1510Ser p.T1510S ENST00000317147 NM_016284.4 1510 aCt/aGt 0 Missense_Mutation G 36 CNOT1 SNP 16 G C 57133879 57133879 Broad DNAH17 8632 broad.mit.edu GRCh37 17 76523057 76523057 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000389840.5:c.3529A>C p.Asn1177His p.N1177H ENST00000389840 1177 Aat/Cat 0 Missense_Mutation T 64 DNAH17 SNP 17 T G 74034652 74034652 Broad NFATC1 4772 broad.mit.edu GRCh37 18 77211065 77211065 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000329101.4:c.1662C>T p.His554= p.H554= ENST00000329101 NM_172387.2 554 caC/caT 0 Silent C 19 NFATC1 SNP 18 C T 75312053 75312053 Broad P2RY11 5032 broad.mit.edu GRCh37 19 10225200 10225200 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000321826.4:c.911A>C p.Gln304Pro p.Q304P ENST00000321826 NM_002566.4 304 cAg/cCg 0 Missense_Mutation A 7 PPAN-P2RY11 SNP 19 A C 10086200 10086200 Broad APLP1 333 broad.mit.edu GRCh37 19 36370071 36370071 + synonymous_variant Silent SNP C C G novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000221891.4:c.1809C>G p.Leu603= p.L603= ENST00000221891 NM_001024807.1 603 ctC/ctG 0 Silent C 30 APLP1 SNP 19 C G 41061911 41061911 Broad ZNF224 7767 broad.mit.edu GRCh37 19 44610799 44610799 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000336976.6:c.486C>G p.His162Gln p.H162Q ENST00000336976 NM_013398.2 162 caC/caG 0 Missense_Mutation C 20 ZNF224 SNP 19 C G 49302639 49302639 Broad PPP1R13L 10848 broad.mit.edu GRCh37 19 45901284 45901284 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000418234.2:c.177G>T p.Pro59= p.P59= ENST00000418234 NM_001142502.1 59 ccG/ccT 0 Silent C 27 PPP1R13L SNP 19 C A 50593124 50593124 Broad ARHGAP35 2909 broad.mit.edu GRCh37 19 47423944 47423944 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000404338.3:c.2012T>A p.Leu671Gln p.L671Q ENST00000404338 NM_004491.4 671 cTa/cAa 0 Missense_Mutation T 53 GRLF1 SNP 19 T A 52115784 52115784 Broad ABCG5 64240 broad.mit.edu GRCh37 2 44051194 44051194 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000260645.1:c.1182G>T p.Leu394= p.L394= ENST00000260645 NM_022436.2 394 ctG/ctT 0 Silent C 29 ABCG5 SNP 2 C A 43904698 43904698 Broad PAPOLG 64895 broad.mit.edu GRCh37 2 60998660 60998660 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000238714.3:c.499C>G p.Leu167Val p.L167V ENST00000238714 NM_022894.3 167 Cta/Gta 0 Missense_Mutation C 32 PAPOLG SNP 2 C G 60852164 60852164 Broad BMP10 27302 broad.mit.edu GRCh37 2 69092852 69092852 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000295379.1:c.1186C>T p.Pro396Ser p.P396S ENST00000295379 NM_014482.1 396 Ccc/Tcc 0 Missense_Mutation G 42 BMP10 SNP 2 G A 68946356 68946356 Broad LRRTM1 347730 broad.mit.edu GRCh37 2 80530192 80530192 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000295057.3:c.753G>T p.Ser251= p.S251= ENST00000295057 NM_178839.4 251 tcG/tcT 0 Silent C 27 LRRTM1 SNP 2 C A 80383703 80383703 Broad ZSWIM2 151112 broad.mit.edu GRCh37 2 187692976 187692976 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000295131.2:c.1637A>G p.Lys546Arg p.K546R ENST00000295131 NM_182521.2 546 aAa/aGa 0 Missense_Mutation T 64 ZSWIM2 SNP 2 T C 187401221 187401221 Broad SEL1L2 80343 broad.mit.edu GRCh37 20 13867034 13867034 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000378072.5:c.800C>T p.Thr267Met p.T267M ENST00000378072 NM_001271539.1 267 aCg/aTg 0 Missense_Mutation G 40 SEL1L2 SNP 20 G A 13815034 13815034 Broad BOC 91653 broad.mit.edu GRCh37 3 112969452 112969452 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000495514.1:c.148G>A p.Gly50Arg p.G50R ENST00000495514 50 Gga/Aga 0 Missense_Mutation G 39 BOC SNP 3 G A 114452142 114452142 Broad HERC6 55008 broad.mit.edu GRCh37 4 89314721 89314721 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000264346.7:c.746C>T p.Ala249Val p.A249V ENST00000264346 NM_017912.3 249 gCg/gTg 0 Missense_Mutation C 27 HERC6 SNP 4 C T 89533744 89533744 Broad LARP7 51574 broad.mit.edu GRCh37 4 113570785 113570785 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000509061.1:c.1258T>G p.Ser420Ala p.S420A ENST00000509061 NM_001267039.1 420 Tca/Gca 0 Missense_Mutation T 58 LARP7 SNP 4 T G 113790234 113790234 Broad TNIP1 10318 broad.mit.edu GRCh37 5 150441739 150441739 + synonymous_variant Silent SNP G G C novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000389378.2:c.306C>G p.Ala102= p.A102= ENST00000389378 NM_001252385.1 102 gcC/gcG 0 Silent G 43 TNIP1 SNP 5 G C 150421932 150421932 Broad SERPINB1 1992 broad.mit.edu GRCh37 6 2834180 2834180 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000380739.5:c.802G>A p.Glu268Lys p.E268K ENST00000380739 NM_030666.3 268 Gaa/Aaa 0 Missense_Mutation C 29 SERPINB1 SNP 6 C T 2779179 2779179 Broad AIF1 199 broad.mit.edu GRCh37 6 31584121 31584121 + missense_variant,splice_region_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000376059.3:c.197A>T p.Asp66Val p.D66V ENST00000376059 NM_001623.3 66 gAt/gTt 0 Missense_Mutation A 12 AIF1 SNP 6 A T 31692100 31692100 Broad LRFN2 57497 broad.mit.edu GRCh37 6 40400152 40400152 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000338305.6:c.701C>A p.Pro234His p.P234H ENST00000338305 NM_020737.1 234 cCc/cAc 0 Missense_Mutation G 43 LRFN2 SNP 6 G T 40508130 40508130 Broad PRPH2 5961 broad.mit.edu GRCh37 6 42689611 42689611 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000230381.5:c.462G>C p.Lys154Asn p.K154N ENST00000230381 NM_000322.4 154 aaG/aaC 0 Missense_Mutation C 32 PRPH2 SNP 6 C G 42797589 42797589 Broad EPHA1 2041 broad.mit.edu GRCh37 7 143094667 143094667 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000275815.3:c.1699G>A p.Val567Ile p.V567I ENST00000275815 NM_005232.4 567 Gtt/Att 0 Missense_Mutation C 19 EPHA1 SNP 7 C T 142804789 142804789 Broad CNBD1 168975 broad.mit.edu GRCh37 8 88249150 88249150 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000518476.1:c.581T>G p.Val194Gly p.V194G ENST00000518476 NM_173538.2 194 gTt/gGt 0 Missense_Mutation T 60 CNBD1 SNP 8 T G 88318266 88318266 Broad PKHD1L1 93035 broad.mit.edu GRCh37 8 110535077 110535077 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000378402.5:c.12288G>A p.Gln4096= p.Q4096= ENST00000378402 NM_177531.4 4096 caG/caA 0 Silent G 34 PKHD1L1 SNP 8 G A 110604253 110604253 Broad RFX3 5991 broad.mit.edu GRCh37 9 3301562 3301562 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000382004.3:c.533C>G p.Ser178Cys p.S178C ENST00000382004 NM_134428.1 178 tCt/tGt 0 Missense_Mutation G 33 RFX3 SNP 9 G C 3291562 3291562 Broad FCN1 2219 broad.mit.edu GRCh37 9 137809649 137809649 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000371806.3:c.69G>C p.Lys23Asn p.K23N ENST00000371806 NM_002003.3 23 aaG/aaC 0 Missense_Mutation C 32 FCN1 SNP 9 C G 136949470 136949470 Broad SCML1 6322 broad.mit.edu GRCh37 X 17768147 17768147 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000380041.3:c.437G>A p.Arg146His p.R146H ENST00000380041 NM_001037540.1 146 cGt/cAt 0 Missense_Mutation G 40 SCML1 SNP 23 G A 17678068 17678068 Broad HUWE1 10075 broad.mit.edu GRCh37 X 53595808 53595808 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000342160.3:c.6551G>A p.Ser2184Asn p.S2184N ENST00000342160 2184 aGt/aAt 0 Missense_Mutation C 20 HUWE1 SNP 23 C T 53612533 53612533 Broad DRP2 1821 broad.mit.edu GRCh37 X 100493999 100493999 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000395209.3:c.468C>T p.Gly156= p.G156= ENST00000395209 NM_001939.2 156 ggC/ggT 0 Silent C 26 DRP2 SNP 23 C T 100380655 100380655 Broad ARMCX3 51566 broad.mit.edu GRCh37 X 100880766 100880766 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000341189.4:c.797T>A p.Leu266His p.L266H ENST00000341189 NM_016607.3 266 cTc/cAc 0 Missense_Mutation T 54 ARMCX3 SNP 23 T A 100767422 100767422 Broad BEX4 56271 broad.mit.edu GRCh37 X 102471183 102471183 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000372695.5:c.102A>G p.Glu34= p.E34= ENST00000372695 NM_001080425.3 34 gaA/gaG 0 Silent A 4 BEX4 SNP 23 A G 102357839 102357839 Broad L1CAM 3897 broad.mit.edu GRCh37 X 153130950 153130950 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown x x x ENST00000370060.1:c.2553G>A p.Thr851= p.T851= ENST00000370060 NM_001278116.1 851 acG/acA 0 Silent C 19 L1CAM SNP 23 C T 152784144 152784144 Broad TJP1 7082 broad.mit.edu GRCh37 15 30010796 30010812 + frameshift_variant Frame_Shift_Del DEL TGGGCCCTGCTGAAGGG TGGGCCCTGCTGAAGGG - novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000346128.6:c.3534_3550del p.His1178GlnfsTer10 p.H1178Qfs*10 ENST00000346128 NM_175610.2 1178 caCCCTTCAGCAGGGCCCAag/caag 0 Frame_Shift_Del TGGGCCCTGCTGAAGGG 63 TJP1 DEL 15 - TGGGCCCTGCTGAAGGG 27798104 27798088 Broad MYADM 91663 broad.mit.edu GRCh37 19 54377246 54377277 + frameshift_variant Frame_Shift_Del DEL GTGGCCTGGACCCGGGCCCGGCCCGGCGAGAT GTGGCCTGGACCCGGGCCCGGCCCGGCGAGAT - novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000391769.2:c.463_494del p.Val155HisfsTer100 p.V155Hfs*100 ENST00000391769 NM_001020821.1 155 GTGGCCTGGACCCGGGCCCGGCCCGGCGAGATc/c 0 Frame_Shift_Del GTGGCCTGGACCCGGGCCCGGCCCGGCGAGAT 36 MYADM DEL 19 - GTGGCCTGGACCCGGGCCCGGCCCGGCGAGAT 59069089 59069058 Broad USP40 55230 broad.mit.edu GRCh37 2 234389917 234389919 + inframe_deletion In_Frame_Del DEL ATC ATC - novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000450966.1:c.3562_3564del p.Asp1188del p.D1188del ENST00000450966 NM_018218.2 1188 GAT/- 0 In_Frame_Del ATC 4 USP40 DEL 2 - ATC 234054658 234054656 Broad ABCF1 23 broad.mit.edu GRCh37 6 30550179 30550193 + inframe_deletion In_Frame_Del DEL GGAAGAAGGAGAAGG GGAAGAAGGAGAAGG - novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000326195.8:c.695_709del p.Gly232_Glu236del p.G232_E236del ENST00000326195 NM_001025091.1 229 gaGGAAGAAGGAGAAGGg/gag 0 In_Frame_Del GGAAGAAGGAGAAGG 35 ABCF1 DEL 6 - GGAAGAAGGAGAAGG 30658172 30658158 Broad FAM86B2 653333 broad.mit.edu GRCh37 8 12291593 12291595 + inframe_deletion In_Frame_Del DEL CTG CTG - novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000262365.4:c.125_127del p.Ser42_Asp43delinsTyr p.S42_D43delinsY ENST00000262365 NM_001137610.1 42 tCAGat/tat 0 In_Frame_Del CTG 32 FAM86B2 DEL 8 - CTG 12335966 12335964 Broad CYHR1 50626 broad.mit.edu GRCh37 8 145689658 145689659 + intron_variant Intron INS - - C novel Unknown TCGA-04-1356-01 TCGA-04-1356-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000438911.2:c.246+184dupG *82* ENST00000438911 NM_138496.1 0 Frame_Shift_Ins - 38 CYHR1 INS 8 C - 145660467 145660466 Broad PTPRF 5792 broad.mit.edu GRCh37 1 44075159 44075159 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000359947.4:c.3963C>G p.Tyr1321Ter p.Y1321* ENST00000359947 NM_002840.3 1321 taC/taG 0 Nonsense_Mutation C 18 PTPRF SNP 1 C G 43847746 43847746 Broad SYT11 23208 broad.mit.edu GRCh37 1 155838356 155838356 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000368324.4:c.635C>A p.Thr212Asn p.T212N ENST00000368324 NM_152280.4 212 aCc/aAc 0 Missense_Mutation C 18 SYT11 SNP 1 C A 154104980 154104980 Broad ARHGAP30 257106 broad.mit.edu GRCh37 1 161024178 161024178 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000368013.3:c.514G>T p.Val172Leu p.V172L ENST00000368013 NM_181720.2 172 Gtg/Ttg 0 Missense_Mutation C 19 ARHGAP30 SNP 1 C A 159290802 159290802 Broad NEBL 10529 broad.mit.edu GRCh37 10 21134191 21134191 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000377122.4:c.1223G>A p.Arg408Lys p.R408K ENST00000377122 NM_006393.2 408 aGg/aAg 0 Missense_Mutation C 24 NEBL SNP 10 C T 21174197 21174197 Broad SVIL 6840 broad.mit.edu GRCh37 10 29821009 29821009 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000375398.2:c.1931C>T p.Ser644Phe p.S644F ENST00000375398 644 tCt/tTt 0 Missense_Mutation G 33 SVIL SNP 10 G A 29861015 29861015 Broad IFIT2 3433 broad.mit.edu GRCh37 10 91066305 91066305 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000371826.3:c.592C>G p.Leu198Val p.L198V ENST00000371826 NM_001547.4 198 Ctg/Gtg 0 Missense_Mutation C 32 IFIT2 SNP 10 C G 91056285 91056285 Broad TRPM5 29850 broad.mit.edu GRCh37 11 2432730 2432730 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000155858.6:c.2634C>T p.Phe878= p.F878= ENST00000155858 NM_014555.3 878 ttC/ttT 0 Silent G 33 TRPM5 SNP 11 G A 2389306 2389306 Broad OR51B6 390058 broad.mit.edu GRCh37 11 5373069 5373069 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000380219.1:c.332G>A p.Gly111Asp p.G111D ENST00000380219 NM_001004750.1 111 gGt/gAt 0 Missense_Mutation G 44 OR51B6 SNP 11 G A 5329645 5329645 Broad OAS2 4939 broad.mit.edu GRCh37 12 113442957 113442957 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000342315.4:c.1398C>A p.Ser466Arg p.S466R ENST00000342315 NM_016817.2 466 agC/agA 0 Missense_Mutation C 28 OAS2 SNP 12 C A 111927340 111927340 Broad TM6SF1 53346 broad.mit.edu GRCh37 15 83805360 83805360 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000322019.9:c.1049C>T p.Ala350Val p.A350V ENST00000322019 350 gCc/gTc 0 Missense_Mutation C 26 TM6SF1 SNP 15 C T 81596364 81596364 Broad ZP2 7783 broad.mit.edu GRCh37 16 21222865 21222865 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000574002.1:c.4G>T p.Ala2Ser p.A2S ENST00000574002 2 Gcg/Tcg 0 Missense_Mutation C 26 ZP2 SNP 16 C A 21130366 21130366 Broad TP53 7157 broad.mit.edu GRCh37 17 7578208 7578208 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.641A>G p.His214Arg p.H214R ENST00000269305 NM_001126112.2 214 cAt/cGt 0 Missense_Mutation T 51 TP53 SNP 17 T C 7518933 7518933 Broad SLC16A3 9123 broad.mit.edu GRCh37 17 80195685 80195685 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000581287.1:c.1039G>C p.Val347Leu p.V347L ENST00000581287 NM_001206952.1 347 Gtg/Ctg 0 Missense_Mutation G 40 SLC16A3 SNP 17 G C 77788974 77788974 Broad MBP 4155 broad.mit.edu GRCh37 18 74729159 74729159 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000397860.3:c.205C>T p.Arg69Cys p.R69C ENST00000397860 NM_001025100.1 69 Cgc/Tgc 0 Missense_Mutation G 38 MBP SNP 18 G A 72858147 72858147 Broad NLRP12 91662 broad.mit.edu GRCh37 19 54301530 54301530 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000324134.6:c.2894T>A p.Leu965Gln p.L965Q ENST00000324134 NM_144687.3 965 cTg/cAg 0 Missense_Mutation A 7 NLRP12 SNP 19 A T 58993342 58993342 Broad ALMS1 7840 broad.mit.edu GRCh37 2 73677305 73677305 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000264448.6:c.3648A>G p.Lys1216= p.K1216= ENST00000264448 NM_015120.4 1216 aaA/aaG 0 Silent A 3 ALMS1 SNP 2 A G 73530813 73530813 Broad SLC4A10 57282 broad.mit.edu GRCh37 2 162807307 162807307 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000446997.1:c.2490G>A p.Met830Ile p.M830I ENST00000446997 NM_001178015.1 830 atG/atA 0 Missense_Mutation G 47 SLC4A10 SNP 2 G A 162515553 162515553 Broad TTN 7273 broad.mit.edu GRCh37 2 179510754 179510754 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.40301C>T p.Pro13434Leu p.P13434L ENST00000589042 NM_001267550.1 13434 cCt/cTt 0 Missense_Mutation G 35 TTN SNP 2 G A 179218999 179218999 Broad SCG2 7857 broad.mit.edu GRCh37 2 224462651 224462651 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000305409.2:c.1350G>A p.Thr450= p.T450= ENST00000305409 NM_003469.4 450 acG/acA 0 Silent C 19 SCG2 SNP 2 C T 224170895 224170895 Broad YWHAB 7529 broad.mit.edu GRCh37 20 43532645 43532645 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000372839.3:c.312C>G p.Asp104Glu p.D104E ENST00000372839 NM_003404.4 104 gaC/gaG 0 Missense_Mutation C 17 YWHAB SNP 20 C G 42966059 42966059 Broad PPDPF 79144 broad.mit.edu GRCh37 20 62152873 62152873 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000370179.3:c.64G>T p.Gly22Cys p.G22C ENST00000370179 NM_024299.2 22 Ggt/Tgt 0 Missense_Mutation G 43 PPDPF SNP 20 G T 61623317 61623317 Broad IQCF3 401067 broad.mit.edu GRCh37 3 51864486 51864486 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000456080.1:c.134G>A p.Arg45His p.R45H ENST00000456080 45 cGt/cAt 0 Missense_Mutation G 40 IQCF3 SNP 3 G A 51839526 51839526 Broad SNTN 132203 broad.mit.edu GRCh37 3 63649708 63649708 + synonymous_variant Silent SNP C C A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000343837.3:c.381C>A p.Leu127= p.L127= ENST00000343837 NM_001080537.1 127 ctC/ctA 0 Silent C 32 SNTN SNP 3 C A 63624748 63624748 Broad GABRR3 200959 broad.mit.edu GRCh37 3 97731370 97731370 + intron_variant,non_coding_transcript_variant Intron SNP G G A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000470589.1:n.424-105C>T *142* ENST00000470589 0 Silent G 40 GABRR3 SNP 3 G A 99214060 99214060 Broad AMBN 258 broad.mit.edu GRCh37 4 71462743 71462743 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000322937.6:c.112G>A p.Gly38Ser p.G38S ENST00000322937 NM_016519.5 38 Ggt/Agt 0 Missense_Mutation G 43 AMBN SNP 4 G A 71497332 71497332 Broad ETNPPL 64850 broad.mit.edu GRCh37 4 109669170 109669170 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000296486.3:c.1073G>T p.Gly358Val p.G358V ENST00000296486 NM_031279.3 358 gGa/gTa 0 Missense_Mutation C 30 AGXT2L1 SNP 4 C A 109888619 109888619 Broad NDST1 3340 broad.mit.edu GRCh37 5 149915300 149915300 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000261797.6:c.1290G>A p.Ala430= p.A430= ENST00000261797 NM_001543.4 430 gcG/gcA 0 Silent G 38 NDST1 SNP 5 G A 149895493 149895493 Broad KIF4B 285643 broad.mit.edu GRCh37 5 154395241 154395241 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000435029.4:c.1822C>G p.Gln608Glu p.Q608E ENST00000435029 NM_001099293.1 608 Caa/Gaa 0 Missense_Mutation C 29 KIF4B SNP 5 C G 154375434 154375434 Broad SYNGAP1 8831 broad.mit.edu GRCh37 6 33411445 33411445 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000418600.2:c.3116T>C p.Ile1039Thr p.I1039T ENST00000418600 NM_006772.2 1039 aTt/aCt 0 Missense_Mutation T 52 SYNGAP1 SNP 6 T C 33519423 33519423 Broad KCTD20 222658 broad.mit.edu GRCh37 6 36449514 36449514 + synonymous_variant Silent SNP A A T novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000373731.2:c.834A>T p.Pro278= p.P278= ENST00000373731 NM_173562.3 278 ccA/ccT 0 Silent A 5 KCTD20 SNP 6 A T 36557492 36557492 Broad ZNF318 24149 broad.mit.edu GRCh37 6 43325309 43325309 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000361428.2:c.743G>A p.Arg248Gln p.R248Q ENST00000361428 NM_014345.2 248 cGg/cAg 0 Missense_Mutation C 23 ZNF318 SNP 6 C T 43433287 43433287 Broad FAM83B 222584 broad.mit.edu GRCh37 6 54806538 54806538 + synonymous_variant Silent SNP T T G novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000306858.7:c.2769T>G p.Leu923= p.L923= ENST00000306858 NM_001010872.2 923 ctT/ctG 0 Silent T 62 FAM83B SNP 6 T G 54914497 54914497 Broad COL12A1 1303 broad.mit.edu GRCh37 6 75833987 75833987 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000322507.8:c.6708A>G p.Lys2236= p.K2236= ENST00000322507 NM_004370.5 2236 aaA/aaG 0 Silent T 60 COL12A1 SNP 6 T C 75890707 75890707 Broad MICALL2 79778 broad.mit.edu GRCh37 7 1488302 1488302 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000297508.7:c.288G>C p.Leu96Phe p.L96F ENST00000297508 NM_182924.3 96 ttG/ttC 0 Missense_Mutation C 29 MICALL2 SNP 7 C G 1454828 1454828 Broad WIPI2 26100 broad.mit.edu GRCh37 7 5239271 5239271 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000288828.4:c.193G>C p.Glu65Gln p.E65Q ENST00000288828 NM_001278299.1 65 Gaa/Caa 0 Missense_Mutation G 41 WIPI2 SNP 7 G C 5205797 5205797 Broad OGDH 4967 broad.mit.edu GRCh37 7 44737812 44737812 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000222673.5:c.2380C>A p.Arg794Ser p.R794S ENST00000222673 NM_002541.3 794 Cgc/Agc 0 Missense_Mutation C 23 OGDH SNP 7 C A 44704337 44704337 Broad UNC5D 137970 broad.mit.edu GRCh37 8 35616908 35616908 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000404895.2:c.2234G>T p.Gly745Val p.G745V ENST00000404895 NM_080872.2 745 gGg/gTg 0 Missense_Mutation G 43 UNC5D SNP 8 G T 35736450 35736450 Broad CHMP4C 92421 broad.mit.edu GRCh37 8 82667605 82667605 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000297265.4:c.369G>A p.Met123Ile p.M123I ENST00000297265 NM_152284.3 123 atG/atA 0 Missense_Mutation G 43 CHMP4C SNP 8 G A 82830160 82830160 Broad VPS13B 157680 broad.mit.edu GRCh37 8 100832313 100832313 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000358544.2:c.9032T>A p.Val3011Asp p.V3011D ENST00000358544 NM_017890.4 3011 gTt/gAt 0 Missense_Mutation T 60 VPS13B SNP 8 T A 100901489 100901489 Broad TOR4A 54863 broad.mit.edu GRCh37 9 140173149 140173149 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000357503.2:c.8G>A p.Arg3His p.R3H ENST00000357503 NM_017723.2 3 cGc/cAc 0 Missense_Mutation G 38 C9orf167 SNP 9 G A 139292970 139292970 Broad CACNA1B 774 broad.mit.edu GRCh37 9 140954191 140954191 + splice_donor_variant Splice_Site SNP T T A novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000371372.1:c.4668+2T>A p.X1556_splice ENST00000371372 NM_001243812.1 0 Missense_Mutation T 57 CACNA1B SNP 9 T A 140074012 140074012 Broad CXorf38 159013 broad.mit.edu GRCh37 X 40496388 40496388 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000327877.5:c.492G>C p.Glu164Asp p.E164D ENST00000327877 NM_144970.2 164 gaG/gaC 0 Missense_Mutation C 32 CXorf38 SNP 23 C G 40381332 40381332 Broad ZMYM3 9203 broad.mit.edu GRCh37 X 70465872 70465872 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000353904.2:c.2649C>A p.Cys883Ter p.C883* ENST00000353904 NM_005096.3 883 tgC/tgA 0 Nonsense_Mutation G 42 ZMYM3 SNP 23 G T 70382597 70382597 Broad POU3F4 5456 broad.mit.edu GRCh37 X 82763969 82763969 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000373200.2:c.637G>T p.Ala213Ser p.A213S ENST00000373200 NM_000307.4 213 Gcc/Tcc 0 Missense_Mutation G 42 POU3F4 SNP 23 G T 82650625 82650625 Broad NAA10 8260 broad.mit.edu GRCh37 X 153195524 153195524 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-2404-01 TCGA-25-2404-10 Unknown Unknown Unknown x x x ENST00000464845.1:c.624C>A p.Asp208Glu p.D208E ENST00000464845 NM_003491.3 208 gaC/gaA 0 Missense_Mutation G 48 NAA10 SNP 23 G T 152848718 152848718 Broad C1orf158 93190 broad.mit.edu GRCh37 1 12819361 12819361 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000288048.5:c.344G>C p.Arg115Pro p.R115P ENST00000288048 NM_152290.2 115 cGc/cCc 0 Missense_Mutation G 38 C1orf158 SNP 1 G C 12741948 12741948 Broad TMEM53 79639 broad.mit.edu GRCh37 1 45120665 45120665 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000372237.3:c.400C>A p.Arg134Ser p.R134S ENST00000372237 NM_024587.2 134 Cgc/Agc 0 Missense_Mutation G 39 TMEM53 SNP 1 G T 44893252 44893252 Broad DNASE2B 58511 broad.mit.edu GRCh37 1 84864267 84864267 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000370665.3:c.20C>A p.Ala7Glu p.A7E ENST00000370665 NM_021233.2 7 gCa/gAa 0 Missense_Mutation C 25 DNASE2B SNP 1 C A 84636855 84636855 Broad NTNG1 22854 broad.mit.edu GRCh37 1 107979317 107979317 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000370068.1:c.1286A>C p.His429Pro p.H429P ENST00000370068 429 cAt/cCt 0 Missense_Mutation A 8 NTNG1 SNP 1 A C 107780840 107780840 Broad LCE5A 254910 broad.mit.edu GRCh37 1 152484108 152484108 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000334269.2:c.98C>T p.Pro33Leu p.P33L ENST00000334269 NM_178438.4 33 cCc/cTc 0 Missense_Mutation C 22 LCE5A SNP 1 C T 150750732 150750732 Broad GON4L 54856 broad.mit.edu GRCh37 1 155791321 155791321 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000437809.1:c.907C>G p.His303Asp p.H303D ENST00000437809 303 Cac/Gac 0 Missense_Mutation G 48 GON4L SNP 1 G C 154057945 154057945 Broad OR10J1 26476 broad.mit.edu GRCh37 1 159409906 159409906 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000423932.3:c.358A>T p.Ile120Phe p.I120F ENST00000423932 NM_012351.2 120 Atc/Ttc 0 Missense_Mutation A 8 OR10J1 SNP 1 A T 157676530 157676530 Broad LRRC52 440699 broad.mit.edu GRCh37 1 165513563 165513563 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000294818.1:c.30G>T p.Gly10= p.G10= ENST00000294818 NM_001005214.3 10 ggG/ggT 0 Silent G 44 LRRC52 SNP 1 G T 163780187 163780187 Broad CACNA1S 779 broad.mit.edu GRCh37 1 201061156 201061156 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000362061.3:c.485A>C p.Lys162Thr p.K162T ENST00000362061 NM_000069.2 162 aAg/aCg 0 Missense_Mutation T 56 CACNA1S SNP 1 T G 199327779 199327779 Broad TLR5 7100 broad.mit.edu GRCh37 1 223284970 223284970 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000540964.1:c.1404C>A p.Thr468= p.T468= ENST00000540964 468 acC/acA 0 Silent G 43 TLR5 SNP 1 G T 221351593 221351593 Broad EPHX1 2052 broad.mit.edu GRCh37 1 226019478 226019478 + splice_acceptor_variant Splice_Site SNP A A T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000366837.4:c.184-2A>T p.X62_splice ENST00000366837 NM_000120.3 0 Splice_Site_SNP A 7 EPHX1 SNP 1 A T 224086101 224086101 Broad DIP2C 22982 broad.mit.edu GRCh37 10 436258 436258 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000280886.6:c.1440C>G p.Pro480= p.P480= ENST00000280886 NM_014974.2 480 ccC/ccG 0 Silent G 43 DIP2C SNP 10 G C 426258 426258 Broad CUBN 8029 broad.mit.edu GRCh37 10 17145125 17145125 + missense_variant,splice_region_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000377833.4:c.1529A>C p.Lys510Thr p.K510T ENST00000377833 NM_001081.3 510 aAg/aCg 0 Missense_Mutation T 56 CUBN SNP 10 T G 17185131 17185131 Broad ZNF365 22891 broad.mit.edu GRCh37 10 64136256 64136256 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000410046.3:c.304T>C p.Tyr102His p.Y102H ENST00000410046 NM_199451.2 102 Tac/Cac 0 Missense_Mutation T 57 ZNF365 SNP 10 T C 63806262 63806262 Broad JMJD1C 221037 broad.mit.edu GRCh37 10 64944406 64944406 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000399262.2:c.6923T>A p.Val2308Glu p.V2308E ENST00000399262 NM_032776.1 2308 gTa/gAa 0 Missense_Mutation A 14 JMJD1C SNP 10 A T 64614412 64614412 Broad DOCK1 1793 broad.mit.edu GRCh37 10 128797685 128797685 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000280333.6:c.835C>T p.Arg279Ter p.R279* ENST00000280333 NM_001380.3 279 Cga/Tga 0 Nonsense_Mutation C 27 DOCK1 SNP 10 C T 128687675 128687675 Broad IGSF22 283284 broad.mit.edu GRCh37 11 18739641 18739641 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000513874.1:c.811-1G>C p.X271_splice ENST00000513874 NM_173588.3 0 Splice_Site_SNP C 24 IGSF22 SNP 11 C G 18696217 18696217 Broad OR5AN1 390195 broad.mit.edu GRCh37 11 59132241 59132241 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000313940.2:c.310A>T p.Ile104Phe p.I104F ENST00000313940 NM_001004729.1 104 Atc/Ttc 0 Missense_Mutation A 16 OR5AN1 SNP 11 A T 58888817 58888817 Broad AHNAK 79026 broad.mit.edu GRCh37 11 62286515 62286515 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000378024.4:c.15374C>G p.Ser5125Cys p.S5125C ENST00000378024 NM_001620.2 5125 tCt/tGt 0 Missense_Mutation G 33 AHNAK SNP 11 G C 62043091 62043091 Broad SLC22A10 387775 broad.mit.edu GRCh37 11 63057878 63057878 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000332793.6:c.241T>A p.Ser81Thr p.S81T ENST00000332793 NM_001039752.3 81 Tca/Aca 0 Missense_Mutation T 54 SLC22A10 SNP 11 T A 62814454 62814454 Broad BIRC3 330 broad.mit.edu GRCh37 11 102207518 102207518 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000263464.3:c.1607C>G p.Thr536Arg p.T536R ENST00000263464 NM_001165.4 536 aCa/aGa 0 Missense_Mutation C 17 BIRC3 SNP 11 C G 101712728 101712728 Broad KCNA5 3741 broad.mit.edu GRCh37 12 5153943 5153943 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000252321.3:c.630G>A p.Met210Ile p.M210I ENST00000252321 NM_002234.3 210 atG/atA 0 Missense_Mutation G 47 KCNA5 SNP 12 G A 5024204 5024204 Broad TSPAN19 144448 broad.mit.edu GRCh37 12 85417152 85417152 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000532498.2:c.291T>C p.Phe97= p.F97= ENST00000532498 NM_001100917.1 97 ttT/ttC 0 Silent A 5 TSPAN19 SNP 12 A G 83941283 83941283 Broad TPTE2 93492 broad.mit.edu GRCh37 13 20041412 20041412 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000400230.2:c.465T>C p.Asp155= p.D155= ENST00000400230 155 gaT/gaC 0 Silent A 8 TPTE2 SNP 13 A G 18939412 18939412 Broad ATP7B 540 broad.mit.edu GRCh37 13 52509059 52509059 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000242839.4:c.4231C>T p.Arg1411Trp p.R1411W ENST00000242839 NM_000053.3 1411 Cgg/Tgg 0 Missense_Mutation G 38 ATP7B SNP 13 G A 51407060 51407060 Broad SLITRK5 26050 broad.mit.edu GRCh37 13 88330418 88330418 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000325089.6:c.2775A>G p.Val925= p.V925= ENST00000325089 NM_015567.1 925 gtA/gtG 0 Silent A 15 SLITRK5 SNP 13 A G 87128419 87128419 Broad FARP1 10160 broad.mit.edu GRCh37 13 99043104 99043104 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000319562.6:c.1058A>T p.Glu353Val p.E353V ENST00000319562 NM_005766.2 353 gAa/gTa 0 Missense_Mutation A 9 FARP1 SNP 13 A T 97841105 97841105 Broad GMPR2 51292 broad.mit.edu GRCh37 14 24707820 24707820 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000420554.2:c.937G>C p.Val313Leu p.V313L ENST00000420554 NM_016576.3 313 Gtt/Ctt 0 Missense_Mutation G 36 GMPR2 SNP 14 G C 23777660 23777660 Broad SYNE2 23224 broad.mit.edu GRCh37 14 64518439 64518439 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000358025.3:c.7808T>C p.Leu2603Pro p.L2603P ENST00000358025 NM_182914.2 2603 cTt/cCt 0 Missense_Mutation T 56 SYNE2 SNP 14 T C 63588192 63588192 Broad KIAA0247 9766 broad.mit.edu GRCh37 14 70171360 70171360 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000342745.4:c.359C>A p.Ser120Tyr p.S120Y ENST00000342745 NM_014734.3 120 tCt/tAt 0 Missense_Mutation C 32 KIAA0247 SNP 14 C A 69241113 69241113 Broad EPB42 2038 broad.mit.edu GRCh37 15 43500502 43500502 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000300215.3:c.1091T>A p.Met364Lys p.M364K ENST00000300215 364 aTg/aAg 0 Missense_Mutation A 8 EPB42 SNP 15 A T 41287794 41287794 Broad DUOX1 53905 broad.mit.edu GRCh37 15 45442897 45442897 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000321429.4:c.2886C>T p.Ile962= p.I962= ENST00000321429 NM_017434.3 962 atC/atT 0 Silent C 32 DUOX1 SNP 15 C T 43230189 43230189 Broad C16orf91 283951 broad.mit.edu GRCh37 16 1479277 1479277 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000310355.1:c.69G>T p.Gly23= p.G23= ENST00000310355 23 ggG/ggT 0 Silent C 30 C16orf91 SNP 16 C A 1419278 1419278 Broad TMC7 79905 broad.mit.edu GRCh37 16 19056666 19056666 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000304381.5:c.1459T>A p.Trp487Arg p.W487R ENST00000304381 NM_024847.3 487 Tgg/Agg 0 Missense_Mutation T 55 TMC7 SNP 16 T A 18964167 18964167 Broad RABEP2 79874 broad.mit.edu GRCh37 16 28922431 28922431 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000358201.4:c.964C>T p.Arg322Trp p.R322W ENST00000358201 NM_024816.2 322 Cgg/Tgg 0 Missense_Mutation G 40 RABEP2 SNP 16 G A 28829932 28829932 Broad ABCC11 85320 broad.mit.edu GRCh37 16 48230203 48230203 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000394747.1:c.2344G>T p.Glu782Ter p.E782* ENST00000394747 NM_033151.3 782 Gag/Tag 0 Nonsense_Mutation C 30 ABCC11 SNP 16 C A 46787704 46787704 Broad CCDC113 29070 broad.mit.edu GRCh37 16 58283935 58283935 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000219299.4:c.17C>T p.Ser6Phe p.S6F ENST00000219299 NM_014157.3 6 tCc/tTc 0 Missense_Mutation C 30 CCDC113 SNP 16 C T 56841436 56841436 Broad CDH16 1014 broad.mit.edu GRCh37 16 66947454 66947454 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000299752.4:c.843A>T p.Glu281Asp p.E281D ENST00000299752 NM_001204744.1 281 gaA/gaT 0 Missense_Mutation T 56 CDH16 SNP 16 T A 65504955 65504955 Broad PRDM7 11105 broad.mit.edu GRCh37 16 90126903 90126903 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000449207.2:c.1079A>G p.Glu360Gly p.E360G ENST00000449207 NM_001098173.1 360 gAg/gGg 0 Missense_Mutation T 54 PRDM7 SNP 16 T C 88654404 88654404 Broad MYO15A 51168 broad.mit.edu GRCh37 17 18054759 18054759 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000205890.5:c.7705T>A p.Phe2569Ile p.F2569I ENST00000205890 NM_016239.3 2569 Ttc/Atc 0 Missense_Mutation T 56 MYO15A SNP 17 T A 17995484 17995484 Broad KRT35 3886 broad.mit.edu GRCh37 17 39633357 39633357 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000393989.1:c.1319A>C p.Asn440Thr p.N440T ENST00000393989 NM_002280.4 440 aAc/aCc 0 Missense_Mutation T 60 KRT35 SNP 17 T G 36886883 36886883 Broad MBTD1 54799 broad.mit.edu GRCh37 17 49272709 49272709 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000586178.1:c.1238G>T p.Gly413Val p.G413V ENST00000586178 NM_017643.2 413 gGa/gTa 0 Missense_Mutation C 30 MBTD1 SNP 17 C A 46627708 46627708 Broad USHBP1 83878 broad.mit.edu GRCh37 19 17366269 17366269 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000252597.3:c.1617G>A p.Gln539= p.Q539= ENST00000252597 NM_031941.3 539 caG/caA 0 Silent C 24 USHBP1 SNP 19 C T 17227269 17227269 Broad MEGF8 1954 broad.mit.edu GRCh37 19 42839282 42839282 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000334370.4:c.654G>A p.Val218= p.V218= ENST00000334370 NM_001410.2 218 gtG/gtA 0 Silent G 45 MEGF8 SNP 19 G A 47531122 47531122 Broad ZNF235 9310 broad.mit.edu GRCh37 19 44791915 44791915 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000291182.4:c.1673T>A p.Leu558His p.L558H ENST00000291182 NM_004234.4 558 cTt/cAt 0 Missense_Mutation A 3 ZNF235 SNP 19 A T 49483755 49483755 Broad FBXO46 23403 broad.mit.edu GRCh37 19 46215245 46215245 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000317683.3:c.1509C>T p.Phe503= p.F503= ENST00000317683 NM_001080469.1 503 ttC/ttT 0 Silent G 45 FBXO46 SNP 19 G A 50907085 50907085 Broad PGLYRP1 8993 broad.mit.edu GRCh37 19 46522497 46522497 + stop_retained_variant Silent SNP C C T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000008938.4:c.590G>A p.Ter197= p.*197= ENST00000008938 NM_005091.2 197 tGa/tAa 0 Silent C 29 PGLYRP1 SNP 19 C T 51214337 51214337 Broad HRC 3270 broad.mit.edu GRCh37 19 49657294 49657294 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000252825.4:c.1201A>G p.Ser401Gly p.S401G ENST00000252825 NM_002152.2 401 Agt/Ggt 0 Missense_Mutation T 54 HRC SNP 19 T C 54349106 54349106 Broad CACNG7 59284 broad.mit.edu GRCh37 19 54445451 54445451 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000391767.1:c.732C>T p.Ser244= p.S244= ENST00000391767 244 tcC/tcT 0 Silent C 23 CACNG7 SNP 19 C T 59137263 59137263 Broad LILRA3 11026 broad.mit.edu GRCh37 19 54803581 54803581 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000251390.3:c.243C>A p.Gly81= p.G81= ENST00000251390 NM_006865.3 81 ggC/ggA 0 Silent G 42 LILRA3 SNP 19 G T 59495393 59495393 Broad RDH13 112724 broad.mit.edu GRCh37 19 55556577 55556577 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000415061.3:c.861C>G p.Tyr287Ter p.Y287* ENST00000415061 NM_001145971.1 287 taC/taG 0 Nonsense_Mutation G 36 RDH13 SNP 19 G C 60248389 60248389 Broad LPIN1 23175 broad.mit.edu GRCh37 2 11944604 11944604 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000449576.2:c.2216A>G p.Gln739Arg p.Q739R ENST00000449576 NM_001261428.1 739 cAg/cGg 0 Missense_Mutation A 7 LPIN1 SNP 2 A G 11862055 11862055 Broad CD8A 925 broad.mit.edu GRCh37 2 87017544 87017544 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000409511.2:c.310G>A p.Asp104Asn p.D104N ENST00000409511 NM_001145873.1 104 Gac/Aac 0 Missense_Mutation C 31 CD8A SNP 2 C T 86871055 86871055 Broad ARHGAP15 55843 broad.mit.edu GRCh37 2 144193179 144193179 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000295095.6:c.484G>T p.Val162Leu p.V162L ENST00000295095 NM_018460.3 162 Gta/Tta 0 Missense_Mutation G 36 ARHGAP15 SNP 2 G T 143909649 143909649 Broad TTN 7273 broad.mit.edu GRCh37 2 179427935 179427935 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.82924T>C p.Tyr27642His p.Y27642H ENST00000589042 NM_001267550.1 27642 Tat/Cat 0 Missense_Mutation A 16 TTN SNP 2 A G 179136181 179136181 Broad SGOL2 151246 broad.mit.edu GRCh37 2 201438387 201438387 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000357799.4:c.3318G>T p.Lys1106Asn p.K1106N ENST00000357799 NM_152524.5 1106 aaG/aaT 0 Missense_Mutation G 36 SGOL2 SNP 2 G T 201146632 201146632 Broad TNS1 7145 broad.mit.edu GRCh37 2 218678419 218678419 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000171887.4:c.4538A>G p.Gln1513Arg p.Q1513R ENST00000171887 NM_022648.4 1513 cAg/cGg 0 Missense_Mutation T 55 TNS1 SNP 2 T C 218386664 218386664 Broad UGT1A8 54576 broad.mit.edu GRCh37 2 234526586 234526586 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000373450.4:c.233C>G p.Ser78Ter p.S78* ENST00000373450 NM_019076.4 78 tCa/tGa 0 Nonsense_Mutation C 29 UGT1A8 SNP 2 C G 234191325 234191325 Broad RIN2 54453 broad.mit.edu GRCh37 20 19870273 19870273 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000255006.6:c.175G>T p.Gly59Cys p.G59C ENST00000255006 NM_018993.3 59 Ggt/Tgt 0 Missense_Mutation G 39 RIN2 SNP 20 G T 19818273 19818273 Broad FOXA2 3170 broad.mit.edu GRCh37 20 22563750 22563750 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000419308.2:c.130A>C p.Asn44His p.N44H ENST00000419308 NM_021784.4 44 Aac/Cac 0 Missense_Mutation T 62 FOXA2 SNP 20 T G 22511750 22511750 Broad NDUFV3 4731 broad.mit.edu GRCh37 21 44329129 44329129 + stop_lost Nonstop_Mutation SNP T T G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000354250.2:c.1420T>G p.Ter474GlyextTer5 p.*474Gext*5 ENST00000354250 NM_021075.3 474 Tga/Gga 0 Nonstop_Mutation T 55 NDUFV3 SNP 21 T G 43202198 43202198 Broad RFTN1 23180 broad.mit.edu GRCh37 3 16358730 16358730 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000334133.4:c.1342C>T p.Arg448Ter p.R448* ENST00000334133 NM_015150.1 448 Cga/Tga 0 Nonsense_Mutation G 38 RFTN1 SNP 3 G A 16333734 16333734 Broad SCN11A 11280 broad.mit.edu GRCh37 3 38941406 38941407 + missense_variant Missense_Mutation DNP TG TG AT novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000302328.3:c.2000_2001delinsAT p.Pro667His p.P667H ENST00000302328 NM_014139.2 667 cCA/cAT 0 Missense_Mutation TG 51 SCN11A DNP 3 TG AT 38916411 38916410 Broad OR5H2 79310 broad.mit.edu GRCh37 3 98001793 98001793 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000355273.2:c.62G>A p.Gly21Glu p.G21E ENST00000355273 NM_001005482.1 21 gGa/gAa 0 Missense_Mutation G 41 OR5H2 SNP 3 G A 99484483 99484483 Broad MORC1 27136 broad.mit.edu GRCh37 3 108822695 108822695 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000232603.5:c.223+1G>T p.X75_splice ENST00000232603 NM_014429.3 0 Splice_Site_SNP C 18 MORC1 SNP 3 C A 110305385 110305385 Broad SLCO2A1 6578 broad.mit.edu GRCh37 3 133654647 133654647 + synonymous_variant Silent SNP G G C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000310926.4:c.1785C>G p.Ala595= p.A595= ENST00000310926 NM_005630.2 595 gcC/gcG 0 Silent G 35 SLCO2A1 SNP 3 G C 135137337 135137337 Broad P2RY1 5028 broad.mit.edu GRCh37 3 152553610 152553610 + synonymous_variant Silent SNP G G A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000305097.3:c.39G>A p.Thr13= p.T13= ENST00000305097 NM_002563.3 13 acG/acA 0 Silent G 39 P2RY1 SNP 3 G A 154036300 154036300 Broad MFN1 55669 broad.mit.edu GRCh37 3 179066743 179066743 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000471841.1:c.104T>A p.Phe35Tyr p.F35Y ENST00000471841 NM_033540.2 35 tTt/tAt 0 Missense_Mutation T 64 MFN1 SNP 3 T A 180549437 180549437 Broad EHHADH 1962 broad.mit.edu GRCh37 3 184910746 184910746 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000231887.3:c.1440G>C p.Val480= p.V480= ENST00000231887 NM_001166415.1 480 gtG/gtC 0 Silent C 21 EHHADH SNP 3 C G 186393440 186393440 Broad MASP1 5648 broad.mit.edu GRCh37 3 186974476 186974476 + synonymous_variant Silent SNP C C A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000296280.6:c.720G>T p.Val240= p.V240= ENST00000296280 NM_139125.3 240 gtG/gtT 0 Silent C 25 MASP1 SNP 3 C A 188457170 188457170 Broad BOD1L1 259282 broad.mit.edu GRCh37 4 13603693 13603693 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000040738.5:c.4831A>G p.Lys1611Glu p.K1611E ENST00000040738 NM_148894.2 1611 Aag/Gag 0 Missense_Mutation T 61 BOD1L SNP 4 T C 13212791 13212791 Broad ZCCHC4 29063 broad.mit.edu GRCh37 4 25334974 25334974 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000302874.4:c.499A>C p.Lys167Gln p.K167Q ENST00000302874 NM_024936.2 167 Aag/Cag 0 Missense_Mutation A 5 ZCCHC4 SNP 4 A C 24944072 24944072 Broad ARAP2 116984 broad.mit.edu GRCh37 4 36230420 36230421 + missense_variant Missense_Mutation DNP CC CC AT novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000303965.4:c.688_689delinsAT p.Gly230Ile p.G230I ENST00000303965 NM_015230.3 230 GGa/ATa 0 Missense_Mutation CC 30 ARAP2 DNP 4 CC AT 35906816 35906815 Broad ARAP2 116984 broad.mit.edu GRCh37 4 36230974 36230974 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000303965.4:c.135G>A p.Leu45= p.L45= ENST00000303965 NM_015230.3 45 ctG/ctA 0 Silent C 25 ARAP2 SNP 4 C T 35907369 35907369 Broad SLC9B1 150159 broad.mit.edu GRCh37 4 103870433 103870433 + synonymous_variant Silent SNP A A G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000296422.7:c.363T>C p.Pro121= p.P121= ENST00000296422 NM_139173.3 121 ccT/ccC 0 Silent A 11 NHEDC1 SNP 4 A G 104089882 104089882 Broad DKK2 27123 broad.mit.edu GRCh37 4 107846995 107846995 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000285311.3:c.334C>G p.Arg112Gly p.R112G ENST00000285311 NM_014421.2 112 Cga/Gga 0 Missense_Mutation G 39 DKK2 SNP 4 G C 108066444 108066444 Broad FGA 2243 broad.mit.edu GRCh37 4 155505781 155505781 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000302053.3:c.2096T>A p.Leu699Gln p.L699Q ENST00000302053 NM_000508.3 699 cTg/cAg 0 Missense_Mutation A 7 FGA SNP 4 A T 155725231 155725231 Broad FSTL5 56884 broad.mit.edu GRCh37 4 162402181 162402181 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000306100.5:c.1599A>T p.Lys533Asn p.K533N ENST00000306100 NM_001128427.2 533 aaA/aaT 0 Missense_Mutation T 56 FSTL5 SNP 4 T A 162621631 162621631 Broad TARS 6897 broad.mit.edu GRCh37 5 33445499 33445499 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000455217.2:c.127G>A p.Gly43Ser p.G43S ENST00000455217 NM_001258438.1 43 Ggt/Agt 0 Missense_Mutation G 35 TARS SNP 5 G A 33481256 33481256 Broad C7 730 broad.mit.edu GRCh37 5 40964847 40964847 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000313164.9:c.1754A>C p.Glu585Ala p.E585A ENST00000313164 NM_000587.2 585 gAa/gCa 0 Missense_Mutation A 9 C7 SNP 5 A C 41000604 41000604 Broad RREB1 6239 broad.mit.edu GRCh37 6 7240715 7240715 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000379938.2:c.3853A>G p.Thr1285Ala p.T1285A ENST00000379938 NM_001003700.1 1285 Acc/Gcc 0 Missense_Mutation A 14 RREB1 SNP 6 A G 7185714 7185714 Broad TRIM10 10107 broad.mit.edu GRCh37 6 30121774 30121774 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000449742.2:c.1418G>A p.Arg473Gln p.R473Q ENST00000449742 NM_006778.3 473 cGa/cAa 0 Missense_Mutation C 31 TRIM10 SNP 6 C T 30229753 30229753 Broad VARS2 57176 broad.mit.edu GRCh37 6 30890956 30890956 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000541562.1:c.2351G>T p.Arg784Leu p.R784L ENST00000541562 NM_001167734.1 784 cGc/cTc 0 Missense_Mutation G 38 VARS2 SNP 6 G T 30998935 30998935 Broad TFEB 7942 broad.mit.edu GRCh37 6 41655674 41655674 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000230323.4:c.642G>C p.Ala214= p.A214= ENST00000230323 NM_007162.2 214 gcG/gcC 0 Silent C 23 TFEB SNP 6 C G 41763652 41763652 Broad BAI3 577 broad.mit.edu GRCh37 6 70071237 70071237 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000370598.1:c.4072C>A p.Gln1358Lys p.Q1358K ENST00000370598 NM_001704.2 1358 Cag/Aag 0 Missense_Mutation C 21 BAI3 SNP 6 C A 70127958 70127958 Broad PTPRK 5796 broad.mit.edu GRCh37 6 128298168 128298168 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000368213.5:c.3761C>A p.Thr1254Lys p.T1254K ENST00000368213 NM_001135648.1 1254 aCa/aAa 0 Missense_Mutation G 48 PTPRK SNP 6 G T 128339861 128339861 Broad UTRN 7402 broad.mit.edu GRCh37 6 144772594 144772594 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000367545.3:c.2161A>G p.Met721Val p.M721V ENST00000367545 NM_007124.2 721 Atg/Gtg 0 Missense_Mutation A 12 UTRN SNP 6 A G 144814287 144814287 Broad GPER1 2852 broad.mit.edu GRCh37 7 1131801 1131801 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000397092.1:c.437T>A p.Phe146Tyr p.F146Y ENST00000397092 NM_001039966.1 146 tTc/tAc 0 Missense_Mutation T 62 GPER SNP 7 T A 1098327 1098327 Broad CDK13 8621 broad.mit.edu GRCh37 7 40127843 40127843 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000181839.4:c.3148G>T p.Gly1050Cys p.G1050C ENST00000181839 NM_031267.3 1050 Ggc/Tgc 0 Missense_Mutation G 43 CDK13 SNP 7 G T 40094368 40094368 Broad MUC17 140453 broad.mit.edu GRCh37 7 100686648 100686648 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000306151.4:c.11951C>A p.Ser3984Tyr p.S3984Y ENST00000306151 NM_001040105.1 3984 tCt/tAt 0 Missense_Mutation C 32 MUC17 SNP 7 C A 100473368 100473368 Broad ZNF777 27153 broad.mit.edu GRCh37 7 149129558 149129558 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000247930.4:c.1805G>T p.Cys602Phe p.C602F ENST00000247930 NM_015694.2 602 tGc/tTc 0 Missense_Mutation C 25 ZNF777 SNP 7 C A 148760491 148760491 Broad KMT2C 58508 broad.mit.edu GRCh37 7 151878644 151878644 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000262189.6:c.6301C>G p.Pro2101Ala p.P2101A ENST00000262189 NM_170606.2 2101 Cca/Gca 0 Missense_Mutation G 43 MLL3 SNP 7 G C 151509577 151509577 Broad MYOM2 9172 broad.mit.edu GRCh37 8 2088796 2088796 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000262113.4:c.3951C>A p.Asp1317Glu p.D1317E ENST00000262113 NM_003970.2 1317 gaC/gaA 0 Missense_Mutation C 18 MYOM2 SNP 8 C A 2076203 2076203 Broad PTK2B 2185 broad.mit.edu GRCh37 8 27303406 27303406 + synonymous_variant Silent SNP G G T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000397501.1:c.2310G>T p.Arg770= p.R770= ENST00000397501 NM_173174.2 770 cgG/cgT 0 Silent G 42 PTK2B SNP 8 G T 27359323 27359323 Broad KCNU1 157855 broad.mit.edu GRCh37 8 36692362 36692362 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000399881.3:c.1271C>T p.Ala424Val p.A424V ENST00000399881 NM_001031836.2 424 gCt/gTt 0 Missense_Mutation C 28 KCNU1 SNP 8 C T 36811520 36811520 Broad GPR124 25960 broad.mit.edu GRCh37 8 37697734 37697734 + synonymous_variant Silent SNP C C G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000412232.2:c.2607C>G p.Pro869= p.P869= ENST00000412232 NM_032777.9 869 ccC/ccG 0 Silent C 22 GPR124 SNP 8 C G 37816892 37816892 Broad TGS1 96764 broad.mit.edu GRCh37 8 56723473 56723473 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000260129.5:c.2177C>G p.Ala726Gly p.A726G ENST00000260129 NM_024831.6 726 gCc/gGc 0 Missense_Mutation C 26 TGS1 SNP 8 C G 56886027 56886027 Broad MOS 4342 broad.mit.edu GRCh37 8 57025501 57025501 + stop_lost Nonstop_Mutation SNP T T A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000311923.1:c.1041A>T p.Ter347CysextTer? p.*347Cext*? ENST00000311923 NM_005372.1 347 tgA/tgT 0 Nonstop_Mutation T 58 MOS SNP 8 T A 57188055 57188055 Broad LRRC6 23639 broad.mit.edu GRCh37 8 133637631 133637631 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000250173.1:c.723C>A p.Asp241Glu p.D241E ENST00000250173 241 gaC/gaA 0 Missense_Mutation G 48 LRRC6 SNP 8 G T 133706813 133706813 Broad RFX3 5991 broad.mit.edu GRCh37 9 3330481 3330481 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000382004.3:c.252G>A p.Met84Ile p.M84I ENST00000382004 NM_134428.1 84 atG/atA 0 Missense_Mutation C 17 RFX3 SNP 9 C T 3320481 3320481 Broad DDX58 23586 broad.mit.edu GRCh37 9 32487984 32487984 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000379883.2:c.1171C>G p.Leu391Val p.L391V ENST00000379883 NM_014314.3 391 Cta/Gta 0 Missense_Mutation G 33 DDX58 SNP 9 G C 32477984 32477984 Broad SMU1 55234 broad.mit.edu GRCh37 9 33076580 33076580 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000397149.3:c.26+1G>A p.X9_splice ENST00000397149 NM_018225.2 0 Splice_Site_SNP C 20 SMU1 SNP 9 C T 33066580 33066580 Broad ANKS6 203286 broad.mit.edu GRCh37 9 101530427 101530427 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000353234.4:c.2078C>G p.Ala693Gly p.A693G ENST00000353234 693 gCa/gGa 0 Missense_Mutation G 46 ANKS6 SNP 9 G C 100570248 100570248 Broad NR6A1 2649 broad.mit.edu GRCh37 9 127316808 127316808 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000487099.2:c.184A>T p.Ile62Phe p.I62F ENST00000487099 NM_001489.4 62 Att/Ttt 0 Missense_Mutation T 51 NR6A1 SNP 9 T A 126356629 126356629 Broad MAPKAP1 79109 broad.mit.edu GRCh37 9 128434612 128434612 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000265960.3:c.242G>C p.Arg81Thr p.R81T ENST00000265960 NM_001006617.1 81 aGa/aCa 0 Missense_Mutation C 32 MAPKAP1 SNP 9 C G 127474433 127474433 Broad MXRA5 25878 broad.mit.edu GRCh37 X 3241097 3241097 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000217939.6:c.2629C>G p.Pro877Ala p.P877A ENST00000217939 NM_015419.3 877 Cct/Gct 0 Missense_Mutation G 44 MXRA5 SNP 23 G C 3251097 3251097 Broad FRMPD4 9758 broad.mit.edu GRCh37 X 12735839 12735839 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000380682.1:c.2894C>A p.Pro965Gln p.P965Q ENST00000380682 NM_014728.3 965 cCa/cAa 0 Missense_Mutation C 21 FRMPD4 SNP 23 C A 12645760 12645760 Broad CXorf67 broad.mit.edu GRCh37 X 51151349 51151349 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000342995.2:c.1481C>T p.Thr494Ile p.T494I ENST00000342995 494 aCa/aTa 0 Missense_Mutation C 17 LOC340602 SNP 23 C T 51168089 51168089 Broad ALAS2 212 broad.mit.edu GRCh37 X 55042153 55042153 + synonymous_variant Silent SNP C C T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000330807.5:c.1026G>A p.Glu342= p.E342= ENST00000330807 NM_000032.4 342 gaG/gaA 0 Silent C 20 ALAS2 SNP 23 C T 55058878 55058878 Broad CHM 1121 broad.mit.edu GRCh37 X 85236776 85236776 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000357749.2:c.154T>A p.Phe52Ile p.F52I ENST00000357749 NM_000390.2 52 Ttt/Att 0 Missense_Mutation A 3 CHM SNP 23 A T 85123432 85123432 Broad PNMA5 114824 broad.mit.edu GRCh37 X 152159720 152159720 + synonymous_variant Silent SNP T T C novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown x x x ENST00000439251.1:c.423A>G p.Gln141= p.Q141= ENST00000439251 NM_001103150.1 141 caA/caG 0 Silent T 56 PNMA5 SNP 23 T C 151910376 151910376 Broad TP53 7157 broad.mit.edu GRCh37 17 7578403 7578403 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.527G>A p.Cys176Tyr p.C176Y ENST00000269305 NM_001126112.2 176 tGc/tAc 0 Missense_Mutation C 25 TP53 SNP 17 C T 7519128 7519128 Broad PRR11 55771 broad.mit.edu GRCh37 17 57262467 57262483 + frameshift_variant Frame_Shift_Del DEL TCCTGGAACTTCAATTT TCCTGGAACTTCAATTT - novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000262293.4:c.185_201del p.Trp62Ter p.W62* ENST00000262293 NM_018304.3 61 TCCTGGAACTTCAATTTt/t 0 Frame_Shift_Del TCCTGGAACTTCAATTT 50 PRR11 DEL 17 - TCCTGGAACTTCAATTT 54617265 54617249 Broad MRPL4 51073 broad.mit.edu GRCh37 19 10370467 10370473 + frameshift_variant Frame_Shift_Del DEL CGGCCAC CGGCCAC - novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000253099.6:c.915_921del p.Ala306ArgfsTer11 p.A306Rfs*11 ENST00000253099 NM_146388.1 305 gCGGCCACc/gc 0 Frame_Shift_Del CGGCCAC 27 MRPL4 DEL 19 - CGGCCAC 10231473 10231467 Broad CCDC9 26093 broad.mit.edu GRCh37 19 47774571 47774585 + inframe_deletion In_Frame_Del DEL ACGAGGGGGAAGAGA ACGAGGGGGAAGAGA - novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000221922.6:c.1233_1247del p.Asn416_Glu420del p.N416_E420del ENST00000221922 NM_015603.2 411 gACGAGGGGGAAGAGAat/gat 0 In_Frame_Del ACGAGGGGGAAGAGA 10 CCDC9 DEL 19 - ACGAGGGGGAAGAGA 52466425 52466411 Broad CCDC158 339965 broad.mit.edu GRCh37 4 77276468 77276483 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL GCAACCCACCTTATTT GCAACCCACCTTATTT - novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000388914.3:c.2280_2286+9del p.X760_splice ENST00000388914 NM_001042784.1 760 0 Splice_Site_Del GCAACCCACCTTATTT 34 CCDC158 DEL 4 - GCAACCCACCTTATTT 77495507 77495492 Broad CA1 759 broad.mit.edu GRCh37 8 86245847 86245847 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000523953.1:c.357del p.His120ThrfsTer2 p.H120Tfs*2 ENST00000523953 119 ctT/ct 0 Frame_Shift_Del A 9 CA1 DEL 8 - A 86433099 86433099 Broad FAM166B 730112 broad.mit.edu GRCh37 9 35562438 35562439 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-23-1110-01 TCGA-23-1110-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000399742.2:c.677dup p.Leu227ThrfsTer14 p.L227Tfs*14 ENST00000399742 NM_001164310.1 226 cca/ccCa 0 Frame_Shift_Ins - 59 FAM166B INS 9 G - 35552439 35552438 Broad DEFB125 245938 genome.wustl.edu GRCh37 20 76997 76997 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382410.2:c.410C>T p.Ser137Phe p.S137F ENST00000382410 NM_153325.2 137 tCt/tTt 0 Missense_Mutation C 32 DEFB125 SNP 20 C T 24997 24997 WashU SLC6A12 6539 genome.wustl.edu GRCh37 12 313861 313861 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000428720.1:c.218C>A p.Ala73Asp p.A73D ENST00000428720 NM_001122848.2 73 gCc/gAc 0 Missense_Mutation G 42 SLC6A12 SNP 12 G T 184122 184122 WashU DMRT3 58524 genome.wustl.edu GRCh37 9 990732 990732 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000190165.2:c.1146C>A p.Ser382Arg p.S382R ENST00000190165 NM_021240.3 382 agC/agA 0 Missense_Mutation C 26 DMRT3 SNP 9 C A 980732 980732 WashU ALLC 55821 genome.wustl.edu GRCh37 2 3743355 3743356 + missense_variant Missense_Mutation DNP GG GG TT novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 GG GG GG TT GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000252505.3:c.560_561delinsTT p.Trp187Phe p.W187F ENST00000252505 NM_018436.3 187 tGG/tTT 0 Missense GG 47 ALLC DNP 2 GG TT 3721231 3721230 WashU C3 718 genome.wustl.edu GRCh37 19 6684793 6684793 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000245907.6:c.4022C>A p.Thr1341Asn p.T1341N ENST00000245907 NM_000064.2 1341 aCc/aAc 0 Missense_Mutation G 44 C3 SNP 19 G T 6635793 6635793 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577022 7577022 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.916C>T p.Arg306Ter p.R306* ENST00000269305 NM_001126112.2 306 Cga/Tga 0 Nonsense_Mutation G 38 TP53 SNP 17 A A 7517747 7517747 WashU RP11-1396O13.13 genome.wustl.edu GRCh37 4 9388913 9388913 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000508324.1:c.101A>T p.Asp34Val p.D34V ENST00000508324 34 gAt/gTt 0 Missense_Mutation T 50 ENSG00000219492 SNP 4 T A 8998011 8998011 WashU PPP1R3B 79660 genome.wustl.edu GRCh37 8 8998433 8998433 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310455.3:c.729G>T p.Met243Ile p.M243I ENST00000310455 NM_024607.3 243 atG/atT 0 Missense_Mutation C 29 PPP1R3B SNP 8 C A 9035843 9035843 WashU KLRC3 3823 genome.wustl.edu GRCh37 12 10570982 10570982 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381903.2:c.447C>T p.Asn149= p.N149= ENST00000381903 NM_007333.2 149 aaC/aaT 0 Silent G 36 KLRC3 SNP 12 G A 10462249 10462249 WashU AP1M2 10053 genome.wustl.edu GRCh37 19 10689606 10689606 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000250244.6:c.850G>C p.Glu284Gln p.E284Q ENST00000250244 NM_005498.4 284 Gag/Cag 0 Missense_Mutation C 29 AP1M2 SNP 19 C G 10550606 10550606 WashU EMR3 84658 genome.wustl.edu GRCh37 19 14772798 14772798 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000253673.5:c.332A>C p.Asn111Thr p.N111T ENST00000253673 NM_032571.3 111 aAt/aCt 0 Missense_Mutation T 52 EMR3 SNP 19 T G 14633798 14633798 WashU HIST4H4 121504 genome.wustl.edu GRCh37 12 14923900 14923900 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000539745.1:c.119G>A p.Arg40Gln p.R40Q ENST00000539745 NM_175054.2 40 cGa/cAa 0 Missense_Mutation C 31 HIST4H4 SNP 12 C T 14815167 14815167 WashU BMX 660 genome.wustl.edu GRCh37 X 15540592 15540592 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357607.2:c.634A>C p.Ser212Arg p.S212R ENST00000357607 212 Agt/Cgt 0 Missense_Mutation A 7 BMX SNP 23 A C 15450513 15450513 WashU KIF13A 63971 genome.wustl.edu GRCh37 6 17788078 17788078 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000259711.6:c.3290G>C p.Arg1097Thr p.R1097T ENST00000259711 NM_022113.5 1097 aGg/aCg 0 Missense_Mutation C 24 KIF13A SNP 6 C G 17896057 17896057 WashU NAV2 89797 genome.wustl.edu GRCh37 11 20119198 20119198 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396087.3:c.6265G>C p.Glu2089Gln p.E2089Q ENST00000396087 NM_001244963.1 2089 Gaa/Caa 0 Missense_Mutation G 33 NAV2 SNP 11 G C 20075774 20075774 WashU RNASE2 6036 genome.wustl.edu GRCh37 14 21424039 21424039 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304625.2:c.109T>C p.Trp37Arg p.W37R ENST00000304625 NM_002934.2 37 Tgg/Cgg 0 Missense_Mutation T 51 RNASE2 SNP 14 T C 20493879 20493879 WashU NCOR1P2 genome.wustl.edu GRCh37 17 21536068 21536068 + non_coding_transcript_exon_variant RNA SNP A A C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 A A A C A C Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000584728.1:n.55A>C *19* ENST00000584728 0 Missense_Mutation A 16 ENSG00000205203 SNP 17 A C 21476661 21476661 WashU ZNF723 genome.wustl.edu GRCh37 19 23041016 23041016 + non_coding_transcript_exon_variant RNA SNP T T G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000600766.1:n.1502T>G *501* ENST00000600766 0 Silent T 53 LOC646864 SNP 19 T G 22832856 22832856 WashU MYH6 4624 genome.wustl.edu GRCh37 14 23856750 23856750 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405093.3:c.4638G>C p.Leu1546= p.L1546= ENST00000405093 NM_002471.3 1546 ctG/ctC 0 Silent C 21 MYH6 SNP 14 C G 22926590 22926590 WashU KDM1A 23028 genome.wustl.edu GRCh37 1 23357064 23357064 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400181.4:c.454C>A p.Pro152Thr p.P152T ENST00000400181 NM_001009999.2 152 Ccc/Acc 0 Missense_Mutation C 30 KDM1A SNP 1 C A 23229651 23229651 WashU PARP4 143 genome.wustl.edu GRCh37 13 25051839 25051839 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381989.3:c.1789G>C p.Asp597His p.D597H ENST00000381989 NM_006437.3 597 Gat/Cat 0 Missense_Mutation C 24 PARP4 SNP 13 C G 23949839 23949839 WashU SUPT6H 6830 genome.wustl.edu GRCh37 17 27000471 27000471 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314616.6:c.52G>A p.Asp18Asn p.D18N ENST00000314616 NM_003170.3 18 Gat/Aat 0 Missense_Mutation G 45 SUPT6H SNP 17 G A 24024598 24024598 WashU KIAA1217 56243 genome.wustl.edu GRCh37 10 24762215 24762215 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000376454.3:c.905C>T p.Ser302Phe p.S302F ENST00000376454 NM_019590.3 302 tCt/tTt 0 Missense_Mutation C 32 KIAA1217 SNP 10 C T 24802221 24802221 WashU DOCK5 80005 genome.wustl.edu GRCh37 8 25136102 25136102 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276440.7:c.242T>C p.Ile81Thr p.I81T ENST00000276440 NM_024940.6 81 aTt/aCt 0 Missense_Mutation T 52 DOCK5 SNP 8 T C 25192019 25192019 WashU HIST1H2BH 8345 genome.wustl.edu GRCh37 6 26251910 26251910 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356350.2:c.32C>T p.Pro11Leu p.P11L ENST00000356350 NM_003524.2 11 cCg/cTg 0 Missense_Mutation C 23 HIST1H2BH SNP 6 C T 26359889 26359889 WashU DEFB118 117285 genome.wustl.edu GRCh37 20 29960710 29960710 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253381.2:c.109C>T p.Gln37Ter p.Q37* ENST00000253381 NM_054112.2 37 Caa/Taa 0 Nonsense_Mutation C 17 DEFB118 SNP 20 C T 29424371 29424371 WashU SEPT1 1731 genome.wustl.edu GRCh37 16 30390845 30390845 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321367.3:c.812C>G p.Pro271Arg p.P271R ENST00000321367 NM_052838.4 271 cCt/cGt 0 Missense_Mutation G 35 SEPT1 SNP 16 G C 30298346 30298346 WashU PNMT 5409 genome.wustl.edu GRCh37 17 37826360 37826360 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000269582.2:c.567A>T p.Pro189= p.P189= ENST00000269582 NM_002686.4 189 ccA/ccT 0 Silent A 7 PNMT SNP 17 A T 35079886 35079886 WashU PIGO 84720 genome.wustl.edu GRCh37 9 35091323 35091323 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378617.3:c.2561G>A p.Arg854His p.R854H ENST00000378617 NM_032634.3 854 cGc/cAc 0 Missense_Mutation C 27 PIGO SNP 9 C T 35081323 35081323 WashU KIAA1755 85449 genome.wustl.edu GRCh37 20 36869648 36869648 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000279024.4:c.885C>T p.Gly295= p.G295= ENST00000279024 NM_001029864.1 295 ggC/ggT 0 Silent G 46 KIAA1755 SNP 20 G A 36303062 36303062 WashU OSCP1 127700 genome.wustl.edu GRCh37 1 36883824 36883824 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000235532.5:c.1056C>G p.Ile352Met p.I352M ENST00000235532 NM_145047.4 352 atC/atG 0 Missense_Mutation G 45 OSCP1 SNP 1 G C 36656411 36656411 WashU PDZRN4 29951 genome.wustl.edu GRCh37 12 41966489 41966489 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000402685.2:c.1908G>T p.Lys636Asn p.K636N ENST00000402685 NM_001164595.1 636 aaG/aaT 0 Missense_Mutation G 33 PDZRN4 SNP 12 G T 40252756 40252756 WashU ZNF619 285267 genome.wustl.edu GRCh37 3 40528383 40528383 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000447116.2:c.502G>A p.Gly168Arg p.G168R ENST00000447116 NM_001145082.2 168 Gga/Aga 0 Missense_Mutation G 43 ZNF619 SNP 3 G A 40503387 40503387 WashU KATNAL2 83473 genome.wustl.edu GRCh37 18 44589402 44589402 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000245121.5:c.393A>G p.Glu131= p.E131= ENST00000245121 NM_031303.2 131 gaA/gaG 0 Silent A 2 KATNAL2 SNP 18 A G 42843400 42843400 WashU LARS2 23395 genome.wustl.edu GRCh37 3 45518043 45518043 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000415258.1:c.942C>T p.Ile314= p.I314= ENST00000415258 314 atC/atT 0 Silent C 32 LARS2 SNP 3 C T 45493047 45493047 WashU ZBED4 9889 genome.wustl.edu GRCh37 22 50279381 50279381 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216268.5:c.2071C>A p.Gln691Lys p.Q691K ENST00000216268 NM_014838.2 691 Cag/Aag 0 Missense_Mutation C 29 ZBED4 SNP 22 C A 48665385 48665385 WashU TRIM49B 283116 genome.wustl.edu GRCh37 11 49059484 49059484 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332682.7:c.1314T>C p.Ser438= p.S438= ENST00000332682 NM_001206626.1 438 tcT/tcC 0 Silent T 56 LOC283116 SNP 11 T C 49016060 49016060 WashU USP19 10869 genome.wustl.edu GRCh37 3 49153262 49153262 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000434032.2:c.1581G>A p.Glu527= p.E527= ENST00000434032 NM_001199160.1 527 gaG/gaA 0 Silent C 32 USP19 SNP 3 C T 49128266 49128266 WashU USP4 7375 genome.wustl.edu GRCh37 3 49362402 49362402 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265560.4:c.558A>C p.Lys186Asn p.K186N ENST00000265560 NM_003363.3 186 aaA/aaC 0 Missense_Mutation T 52 USP4 SNP 3 T G 49337406 49337406 WashU RP11-707M1.1 genome.wustl.edu GRCh37 11 49598081 49598081 + non_coding_transcript_exon_variant RNA SNP T T A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000527477.1:n.685T>A *229* ENST00000527477 0 Missense_Mutation T 49 ENSG00000205035 SNP 11 T A 49554657 49554657 WashU RP11-707M1.1 genome.wustl.edu GRCh37 11 49598084 49598084 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000527477.1:n.688G>A *230* ENST00000527477 0 Missense_Mutation G 35 ENSG00000205035 SNP 11 G A 49554660 49554660 WashU CCNB3 85417 genome.wustl.edu GRCh37 X 50051868 50051868 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376042.1:c.699G>T p.Lys233Asn p.K233N ENST00000376042 233 aaG/aaT 0 Missense_Mutation G 33 CCNB3 SNP 23 G T 50068608 50068608 WashU EFHC1 114327 genome.wustl.edu GRCh37 6 52317602 52317602 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371068.5:c.690T>A p.Asp230Glu p.D230E ENST00000371068 NM_018100.3 230 gaT/gaA 0 Missense_Mutation T 50 EFHC1 SNP 6 T A 52425561 52425561 WashU ITIH4 3700 genome.wustl.edu GRCh37 3 52863234 52863234 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000266041.4:c.152C>A p.Thr51Lys p.T51K ENST00000266041 NM_002218.4 51 aCg/aAg 0 Missense_Mutation G 40 ITIH4 SNP 3 G T 52838274 52838274 WashU OR5AK3P 81228 genome.wustl.edu GRCh37 11 56738825 56738825 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000527486.1:n.501T>C *167* ENST00000527486 0 Missense_Mutation T 52 OR5AK3P SNP 11 T C 56495401 56495401 WashU ZNF677 342926 genome.wustl.edu GRCh37 19 53740664 53740664 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000333952.4:c.1316C>A p.Ala439Asp p.A439D ENST00000333952 439 gCt/gAt 0 Missense_Mutation G 34 ZNF677 SNP 19 G T 58432476 58432476 WashU ZIM2 23619 genome.wustl.edu GRCh37 19 57286127 57286127 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000391708.3:c.1513C>T p.Arg505Ter p.R505* ENST00000391708 NM_001146327.1 505 Cga/Tga 0 Nonsense_Mutation G 39 ZIM2 SNP 19 G A 61977939 61977939 WashU PEG3 5178 genome.wustl.edu GRCh37 19 57325432 57325432 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326441.9:c.4378G>A p.Asp1460Asn p.D1460N ENST00000326441 NM_006210.2 1460 Gac/Aac 0 Missense_Mutation C 32 PEG3 SNP 19 C T 62017244 62017244 WashU CACHD1 57685 genome.wustl.edu GRCh37 1 65130219 65130219 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000290039.5:c.1980C>G p.Val660= p.V660= ENST00000290039 NM_020925.2 660 gtC/gtG 0 Silent C 29 CACHD1 SNP 1 C G 64902807 64902807 WashU GPHN 10243 genome.wustl.edu GRCh37 14 67525489 67525489 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000478722.1:c.1130T>A p.Ile377Asn p.I377N ENST00000478722 NM_020806.4 377 aTc/aAc 0 Missense_Mutation T 50 GPHN SNP 14 T A 66595242 66595242 WashU NFAT5 10725 genome.wustl.edu GRCh37 16 69602440 69602440 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000432919.1:c.116G>A p.Gly39Glu p.G39E ENST00000432919 NM_138713.3 39 gGa/gAa 0 Missense_Mutation G 41 NFAT5 SNP 16 G A 68159941 68159941 WashU UGT2A3 79799 genome.wustl.edu GRCh37 4 69817092 69817092 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000251566.4:c.387C>G p.Ile129Met p.I129M ENST00000251566 NM_024743.3 129 atC/atG 0 Missense_Mutation G 33 UGT2A3 SNP 4 G C 69851681 69851681 WashU RAB37 326624 genome.wustl.edu GRCh37 17 72741493 72741493 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392614.4:c.630G>T p.Gln210His p.Q210H ENST00000392614 NM_001163989.1 210 caG/caT 0 Missense_Mutation G 33 RAB37 SNP 17 G T 70253088 70253088 WashU KIAA1279 26128 genome.wustl.edu GRCh37 10 70776166 70776166 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361983.4:c.1860G>A p.Leu620= p.L620= ENST00000361983 NM_015634.3 620 ctG/ctA 0 Silent G 45 KIAA1279 SNP 10 G A 70446172 70446172 WashU NPFFR2 10886 genome.wustl.edu GRCh37 4 73013323 73013323 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308744.6:c.1363T>C p.Cys455Arg p.C455R ENST00000308744 NM_004885.2 455 Tgc/Cgc 0 Missense_Mutation T 55 NPFFR2 SNP 4 T C 73232187 73232187 WashU PNMA1 9240 genome.wustl.edu GRCh37 14 74179713 74179713 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316836.3:c.630C>T p.Ala210= p.A210= ENST00000316836 NM_006029.4 210 gcC/gcT 0 Silent G 39 PNMA1 SNP 14 G A 73249466 73249466 WashU GTF2IRD2B 389524 genome.wustl.edu GRCh37 7 74563753 74563753 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000312575.7:c.1500G>A p.Ser500= p.S500= ENST00000312575 NM_001003795.2 500 tcG/tcA 0 Silent G 40 GTF2IRD2B SNP 7 G A 74201689 74201689 WashU GCNT4 51301 genome.wustl.edu GRCh37 5 74325000 74325000 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322348.4:c.863C>G p.Ser288Cys p.S288C ENST00000322348 NM_016591.2 288 tCc/tGc 0 Missense_Mutation G 41 GCNT4 SNP 5 G C 74360756 74360756 WashU BATF 10538 genome.wustl.edu GRCh37 14 75991531 75991531 + splice_region_variant,synonymous_variant Splice_Region SNP G G C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286639.6:c.168G>C p.Leu56= p.L56= ENST00000286639 NM_006399.3 56 ctG/ctC 0 Silent G 47 BATF SNP 14 G C 75061284 75061284 WashU ZZZ3 26009 genome.wustl.edu GRCh37 1 78045289 78045289 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370801.3:c.2005A>G p.Lys669Glu p.K669E ENST00000370801 NM_015534.4 669 Aaa/Gaa 0 Missense_Mutation T 63 ZZZ3 SNP 1 T C 77817877 77817877 WashU SH3BGRL 6451 genome.wustl.edu GRCh37 X 80532536 80532536 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373212.5:c.99A>G p.Gly33= p.G33= ENST00000373212 NM_003022.2 33 ggA/ggG 0 Silent A 12 SH3BGRL SNP 23 G G 80419192 80419192 WashU PCLO 27445 genome.wustl.edu GRCh37 7 82764557 82764557 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333891.9:c.2309C>A p.Ser770Ter p.S770* ENST00000333891 NM_033026.5 770 tCa/tAa 0 Nonsense_Mutation G 45 PCLO SNP 7 G T 82602493 82602493 WashU PCLO 27445 genome.wustl.edu GRCh37 7 82784253 82784253 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333891.9:c.1704G>A p.Gln568= p.Q568= ENST00000333891 NM_033026.5 568 caG/caA 0 Silent C 28 PCLO SNP 7 C T 82622189 82622189 WashU DLG2 1740 genome.wustl.edu GRCh37 11 83497716 83497716 + intron_variant Intron SNP T T C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376104.2:c.1825+17A>G *609* ENST00000376104 NM_001142699.1 0 Silent T 60 DLG2 SNP 11 T C 83175364 83175364 WashU MCOLN2 255231 genome.wustl.edu GRCh37 1 85422116 85422116 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370608.3:c.563T>C p.Leu188Pro p.L188P ENST00000370608 NM_153259.2 188 cTc/cCc 0 Missense_Mutation A 11 MCOLN2 SNP 1 A G 85194704 85194704 WashU ABCB4 5244 genome.wustl.edu GRCh37 7 87068987 87068987 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265723.4:c.1727A>G p.Asp576Gly p.D576G ENST00000265723 NM_000443.3 576 gAt/gGt 0 Missense_Mutation T 50 ABCB4 SNP 7 T C 86906923 86906923 WashU LRRC8D 55144 genome.wustl.edu GRCh37 1 90400055 90400055 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337338.5:c.1428G>C p.Leu476= p.L476= ENST00000337338 NM_001134479.1 476 ctG/ctC 0 Silent G 48 LRRC8D SNP 1 G C 90172643 90172643 WashU RPS6KA5 9252 genome.wustl.edu GRCh37 14 91386568 91386568 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000261991.3:c.788C>G p.Ser263Cys p.S263C ENST00000261991 NM_004755.2 263 tCc/tGc 0 Missense_Mutation G 41 RPS6KA5 SNP 14 G C 90456321 90456321 WashU SECISBP2 79048 genome.wustl.edu GRCh37 9 91943768 91943768 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375807.3:c.768A>G p.Arg256= p.R256= ENST00000375807 NM_024077.3 256 agA/agG 0 Silent A 11 SECISBP2 SNP 9 A G 91133588 91133588 WashU FAT3 120114 genome.wustl.edu GRCh37 11 92085577 92085577 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298047.6:c.299C>T p.Ala100Val p.A100V ENST00000298047 100 gCa/gTa 0 Missense_Mutation C 25 FAT3 SNP 11 C T 91725225 91725225 WashU MRPL42 28977 genome.wustl.edu GRCh37 12 93881315 93881315 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000549982.1:c.262C>G p.His88Asp p.H88D ENST00000549982 NM_172177.3 88 Cat/Gat 0 Missense_Mutation C 17 MRPL42 SNP 12 C G 92405446 92405446 WashU HIATL1 84641 genome.wustl.edu GRCh37 9 97200742 97200742 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375344.3:c.327G>A p.Arg109= p.R109= ENST00000375344 NM_032558.2 109 agG/agA 0 Silent G 41 HIATL1 SNP 9 G A 96240563 96240563 WashU TSPAN6 7105 genome.wustl.edu GRCh37 X 99888435 99888435 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373020.4:c.552T>G p.Thr184= p.T184= ENST00000373020 NM_003270.3 184 acT/acG 0 Silent A 11 TSPAN6 SNP 23 A C 99775091 99775091 WashU VPS13B 157680 genome.wustl.edu GRCh37 8 100287354 100287354 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000358544.2:c.2696C>A p.Ser899Tyr p.S899Y ENST00000358544 NM_017890.4 899 tCt/tAt 0 Missense_Mutation C 32 VPS13B SNP 8 C A 100356530 100356530 WashU TBC1D8 11138 genome.wustl.edu GRCh37 2 101706739 101706739 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376840.4:c.215A>G p.Gln72Arg p.Q72R ENST00000376840 72 cAg/cGg 0 Missense_Mutation T 55 TBC1D8 SNP 2 T C 101073171 101073171 WashU RNF149 284996 genome.wustl.edu GRCh37 2 101911618 101911618 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295317.3:c.486G>A p.Met162Ile p.M162I ENST00000295317 NM_173647.3 162 atG/atA 0 Missense_Mutation C 29 RNF149 SNP 2 C T 101278050 101278050 WashU NRK 203447 genome.wustl.edu GRCh37 X 105132358 105132358 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000428173.2:c.324C>T p.Ser108= p.S108= ENST00000428173 108 tcC/tcT 0 Silent C 24 NRK SNP 23 C T 105019014 105019014 WashU TMEM116 89894 genome.wustl.edu GRCh37 12 112371728 112371728 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000552374.2:c.695G>C p.Arg232Pro p.R232P ENST00000552374 232 cGc/cCc 0 Missense_Mutation C 27 TMEM116 SNP 12 C G 110856111 110856111 WashU PALM2AKAP2 445815 genome.wustl.edu GRCh37 9 112687348 112687348 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314527.4:c.380C>A p.Ser127Tyr p.S127Y ENST00000314527 NM_053016.5 127 tCc/tAc 0 Missense_Mutation C 30 PALM2-AKAP2 SNP 9 C A 111727169 111727169 WashU CD200R1L 344807 genome.wustl.edu GRCh37 3 112546240 112546240 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398214.1:c.404A>G p.His135Arg p.H135R ENST00000398214 NM_001008784.2 135 cAt/cGt 0 Missense_Mutation T 51 CD200R1L SNP 3 T C 114028930 114028930 WashU FAM204A 63877 genome.wustl.edu GRCh37 10 120085707 120085707 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000369183.4:c.502G>T p.Glu168Ter p.E168* ENST00000369183 NM_022063.2 168 Gag/Tag 0 Nonsense_Mutation C 29 C10orf84 SNP 10 C A 120075697 120075697 WashU HSPA5 3309 genome.wustl.edu GRCh37 9 128001074 128001074 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324460.6:c.1029G>T p.Gln343His p.Q343H ENST00000324460 NM_005347.4 343 caG/caT 0 Missense_Mutation C 32 HSPA5 SNP 9 C A 127040895 127040895 WashU THEMIS 387357 genome.wustl.edu GRCh37 6 128222021 128222021 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000543064.1:c.57G>T p.Arg19Ser p.R19S ENST00000543064 NM_001164685.1 19 agG/agT 0 Missense_Mutation C 22 THEMIS SNP 6 C A 128263714 128263714 WashU NFRKB 4798 genome.wustl.edu GRCh37 11 129739556 129739556 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000524794.1:c.3439G>C p.Gly1147Arg p.G1147R ENST00000524794 1147 Gga/Cga 0 Missense_Mutation C 21 NFRKB SNP 11 C G 129244766 129244766 WashU POTEF 728378 genome.wustl.edu GRCh37 2 130832770 130832770 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000357462.5:c.2275C>T p.Gln759Ter p.Q759* ENST00000357462 759 Cag/Tag 0 Nonsense_Mutation G 47 POTEF SNP 2 G A 130549240 130549240 WashU POTEJ 653781 genome.wustl.edu GRCh37 2 131379121 131379121 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000409602.1:c.889C>A p.Gln297Lys p.Q297K ENST00000409602 NM_001277083.1 297 Caa/Aaa 0 Missense_Mutation C 29 LOC653781 SNP 2 C A 131095591 131095591 WashU TRPC7 57113 genome.wustl.edu GRCh37 5 135692447 135692447 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000513104.1:c.629A>T p.Asp210Val p.D210V ENST00000513104 NM_020389.2 210 gAc/gTc 0 Missense_Mutation T 58 TRPC7 SNP 5 T A 135720346 135720346 WashU PCDHGC4 56098 genome.wustl.edu GRCh37 5 140864973 140864973 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306593.1:c.233A>T p.Asp78Val p.D78V ENST00000306593 NM_018928.2 78 gAt/gTt 0 Missense_Mutation A 12 PCDHGC4 SNP 5 A T 140845157 140845157 WashU DENND3 22898 genome.wustl.edu GRCh37 8 142176356 142176356 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262585.2:c.1381C>T p.His461Tyr p.H461Y ENST00000262585 NM_014957.2 461 Cac/Tac 0 Missense_Mutation C 25 DENND3 SNP 8 C T 142245538 142245538 WashU FBXO38 81545 genome.wustl.edu GRCh37 5 147820791 147820791 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394370.3:c.3154G>A p.Asp1052Asn p.D1052N ENST00000394370 1052 Gat/Aat 0 Missense_Mutation G 37 FBXO38 SNP 5 G A 147800984 147800984 WashU KIF4B 285643 genome.wustl.edu GRCh37 5 154394117 154394117 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000435029.4:c.698G>A p.Arg233His p.R233H ENST00000435029 NM_001099293.1 233 cGc/cAc 0 Missense_Mutation G 38 KIF4B SNP 5 G A 154374310 154374310 WashU CYFIP2 26999 genome.wustl.edu GRCh37 5 156768104 156768104 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000521420.1:c.2534C>G p.Thr845Ser p.T845S ENST00000521420 845 aCc/aGc 0 Missense_Mutation C 18 CYFIP2 SNP 5 C G 156700682 156700682 WashU NUF2 83540 genome.wustl.edu GRCh37 1 163298075 163298075 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271452.3:c.256A>C p.Ser86Arg p.S86R ENST00000271452 NM_145697.2 86 Agc/Cgc 0 Missense_Mutation A 7 NUF2 SNP 1 A C 161564699 161564699 WashU DOCK2 1794 genome.wustl.edu GRCh37 5 169435500 169435500 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256935.8:c.3073-1G>T p.X1025_splice ENST00000256935 NM_004946.2 0 Splice_Site_SNP G 34 DOCK2 SNP 5 G T 169368078 169368078 WashU TCTEX1D2 255758 genome.wustl.edu GRCh37 3 196018207 196018207 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000325318.5:c.420C>G p.Phe140Leu p.F140L ENST00000325318 NM_152773.4 140 ttC/ttG 0 Missense_Mutation G 33 TCTEX1D2 SNP 3 G C 197502604 197502604 WashU TNS1 7145 genome.wustl.edu GRCh37 2 218749882 218749882 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000171887.4:c.747G>T p.Lys249Asn p.K249N ENST00000171887 NM_022648.4 249 aaG/aaT 0 Missense_Mutation C 20 TNS1 SNP 2 C A 218458127 218458127 WashU SNAP47 116841 genome.wustl.edu GRCh37 1 227947172 227947172 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366759.4:c.1109C>G p.Ser370Ter p.S370* ENST00000366759 NM_053052.3 370 tCa/tGa 0 Nonsense_Mutation C 29 SNAP47 SNP 1 C G 226013795 226013795 WashU SLC35F3 148641 genome.wustl.edu GRCh37 1 234367294 234367294 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000366618.3:c.415G>A p.Val139Met p.V139M ENST00000366618 NM_173508.2 139 Gtg/Atg 0 Missense_Mutation G 40 SLC35F3 SNP 1 G A 232433917 232433917 WashU USP40 55230 genome.wustl.edu GRCh37 2 234431861 234431861 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000450966.1:c.2189G>C p.Arg730Thr p.R730T ENST00000450966 NM_018218.2 730 aGa/aCa 0 Missense_Mutation C 32 USP40 SNP 2 C G 234096600 234096600 WashU KIF26B 55083 genome.wustl.edu GRCh37 1 245704147 245704147 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000407071.2:c.1245C>T p.Leu415= p.L415= ENST00000407071 NM_018012.3 415 ctC/ctT 0 Silent C 32 KIF26B SNP 1 C T 243770770 243770770 WashU MAP3K15 389840 genome.wustl.edu GRCh37 X 19380909 19380910 + frameshift_variant Frame_Shift_Del DEL AG AG - novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 AG AG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000338883.4:c.3625_3626del p.Leu1209ArgfsTer33 p.L1209Rfs*33 ENST00000338883 NM_001001671.3 1209 CTa/a 0 Frame_Shift_Del AG 15 MAP3K15 DEL 23 AG - 19290831 19290830 WashU KLHDC7A 127707 genome.wustl.edu GRCh37 1 18807549 18807549 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400664.1:c.74C>G p.Ala25Gly p.A25G ENST00000400664 NM_152375.2 25 gCc/gGc 0 Missense_Mutation C 26 KLHDC7A SNP 1 C G 18680136 18680136 WashU PIGV 55650 genome.wustl.edu GRCh37 1 27121257 27121257 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374145.1:c.732G>T p.Ser244= p.S244= ENST00000374145 NM_001202554.1 244 tcG/tcT 0 Silent G 39 PIGV SNP 1 G T 26993844 26993844 WashU DMBX1 127343 genome.wustl.edu GRCh37 1 46977890 46977890 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360032.3:c.858G>A p.Pro286= p.P286= ENST00000360032 NM_172225.1 286 ccG/ccA 0 Silent G 39 DMBX1 SNP 1 G A 46750477 46750477 WashU ADD3 120 genome.wustl.edu GRCh37 10 111892070 111892070 + missense_variant Missense_Mutation SNP G G C Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G C G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000356080.4:c.1740G>C p.Glu580Asp p.E580D ENST00000356080 NM_016824.3 580 gaG/gaC 0 Missense_Mutation G 34 ADD3 SNP 10 G C 111882060 111882060 WashU LIPJ 142910 genome.wustl.edu GRCh37 10 90366438 90366438 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371939.3:c.875C>A p.Ser292Tyr p.S292Y ENST00000371939 NM_001010939.2 292 tCt/tAt 0 Missense_Mutation C 32 LIPJ SNP 10 C A 90356418 90356418 WashU SRP9P1 genome.wustl.edu GRCh37 10 93567002 93567002 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318333.4:n.252C>A *84* ENST00000318333 0 Missense_Mutation G 41 LOC653226 SNP 10 G T 93556982 93556982 WashU CD3D 915 genome.wustl.edu GRCh37 11 118211202 118211202 + synonymous_variant Silent SNP G G A Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000300692.4:c.162C>T p.Asp54= p.D54= ENST00000300692 NM_000732.4 54 gaC/gaT 0 Silent G 48 CD3D SNP 11 G A 117716412 117716412 WashU KBTBD4 55709 genome.wustl.edu GRCh37 11 47597234 47597234 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000430070.2:c.655C>A p.Gln219Lys p.Q219K ENST00000430070 NM_018095.4 219 Cag/Aag 0 Missense_Mutation G 45 KBTBD4 SNP 11 G T 47553810 47553810 WashU GLYATL1 92292 genome.wustl.edu GRCh37 11 58711130 58711130 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300079.5:c.139A>C p.Arg47= p.R47= ENST00000300079 NM_001220496.1 47 Agg/Cgg 0 Silent A 11 GLYATL1 SNP 11 A C 58467706 58467706 WashU EIF2S3L genome.wustl.edu GRCh37 12 10658965 10658965 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322446.3:c.464C>G p.Ala155Gly p.A155G ENST00000322446 155 gCt/gGt 0 Missense_Mutation C 28 ENSG00000180574 SNP 12 C G 10550232 10550232 WashU SSH1 54434 genome.wustl.edu GRCh37 12 109246450 109246450 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326495.5:c.74A>G p.Glu25Gly p.E25G ENST00000326495 NM_018984.3 25 gAg/gGg 0 Missense_Mutation T 54 SSH1 SNP 12 T C 107770579 107770579 WashU CES3 23491 genome.wustl.edu GRCh37 16 66998354 66998354 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303334.4:c.655G>T p.Asp219Tyr p.D219Y ENST00000303334 NM_024922.5 219 Gac/Tac 0 Missense_Mutation G 45 CES3 SNP 16 G T 65555855 65555855 WashU PRODH2 58510 genome.wustl.edu GRCh37 19 36290978 36290978 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000301175.3:c.1573C>T p.Arg525Trp p.R525W ENST00000301175 NM_021232.1 525 Cgg/Tgg 0 Missense_Mutation G 38 PRODH2 SNP 19 G A 40982818 40982818 WashU XRCC1 7515 genome.wustl.edu GRCh37 19 44057035 44057035 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262887.5:c.737G>C p.Arg246Thr p.R246T ENST00000262887 246 aGg/aCg 0 Missense_Mutation C 24 XRCC1 SNP 19 C G 48748875 48748875 WashU ITGA4 3676 genome.wustl.edu GRCh37 2 182360592 182360592 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397033.2:c.1468G>T p.Gly490Ter p.G490* ENST00000397033 NM_000885.4 490 Gga/Tga 0 Nonsense_Mutation G 47 ITGA4 SNP 2 G T 182068837 182068837 WashU PASK 23178 genome.wustl.edu GRCh37 2 242076663 242076663 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358649.4:c.893G>A p.Arg298Lys p.R298K ENST00000358649 298 aGg/aAg 0 Missense_Mutation C 24 PASK SNP 2 C T 241725336 241725336 WashU ITPR1 3708 genome.wustl.edu GRCh37 3 4714842 4714842 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302640.8:c.2182A>C p.Arg728= p.R728= ENST00000302640 NM_001168272.1 728 Agg/Cgg 0 Silent A 11 ITPR1 SNP 3 A C 4689842 4689842 WashU DCAF16 54876 genome.wustl.edu GRCh37 4 17805173 17805173 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382247.1:c.592A>G p.Thr198Ala p.T198A ENST00000382247 NM_017741.3 198 Act/Gct 0 Missense_Mutation T 57 DCAF16 SNP 4 T C 17414271 17414271 WashU TRMT44 152992 genome.wustl.edu GRCh37 4 8465728 8465728 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000389737.4:c.1220C>T p.Pro407Leu p.P407L ENST00000389737 NM_152544.2 407 cCc/cTc 0 Missense_Mutation C 22 C4orf23 SNP 4 C T 8516628 8516628 WashU C6 729 genome.wustl.edu GRCh37 5 41159314 41159314 + missense_variant Missense_Mutation SNP T T G Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T G T T Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000263413.3:c.1726A>C p.Thr576Pro p.T576P ENST00000263413 NM_001115131.2 576 Acc/Ccc 0 Missense_Mutation T 57 C6 SNP 5 T G 41195071 41195071 WashU ZNF800 168850 genome.wustl.edu GRCh37 7 127014462 127014462 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393313.1:c.928C>T p.His310Tyr p.H310Y ENST00000393313 310 Cat/Tat 0 Missense_Mutation G 45 ZNF800 SNP 7 G A 126801698 126801698 WashU ZNF716 441234 genome.wustl.edu GRCh37 7 57529739 57529739 + 3_prime_UTR_variant 3'UTR SNP C C A novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000420713.1:c.*84C>A *28* ENST00000420713 NM_001159279.1 0 Silent C 26 ZNF716 SNP 7 C A 57533681 57533681 WashU NAT2 10 genome.wustl.edu GRCh37 8 18258187 18258187 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286479.3:c.674T>C p.Leu225Ser p.L225S ENST00000286479 NM_000015.2 225 tTg/tCg 0 Missense_Mutation T 63 NAT2 SNP 8 T C 18302467 18302467 WashU ADRA1A 148 genome.wustl.edu GRCh37 8 26721719 26721719 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380586.1:c.768C>G p.His256Gln p.H256Q ENST00000380586 NM_033303.3 256 caC/caG 0 Missense_Mutation G 36 ADRA1A SNP 8 G C 26777636 26777636 WashU ZFHX4 79776 genome.wustl.edu GRCh37 8 77768157 77768157 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1488-01 TCGA-13-1488-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000521891.2:c.9000C>T p.Gly3000= p.G3000= ENST00000521891 NM_024721.4 3000 ggC/ggT 0 Silent C 27 ZFHX4 SNP 8 C T 77930712 77930712 WashU ARHGAP33 115703 genome.wustl.edu GRCh37 19 36277857 36277857 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-13-1488-01 TCGA-13-1488-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000314737.5:c.2002G>A p.Gly668Ser p.G668S ENST00000314737 NM_052948.3 668 Ggc/Agc 0 Missense_Mutation G 39 ARHGAP33 SNP 19 G A 40969697 40969697 WashU HSPG2 3339 broad.mit.edu GRCh37 1 22168767 22168767 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000374695.3:c.9017C>T p.Thr3006Ile p.T3006I ENST00000374695 NM_005529.5 3006 aCa/aTa 0 Missense_Mutation G 48 HSPG2 SNP 1 G A 22041354 22041354 Broad C1orf87 127795 broad.mit.edu GRCh37 1 60505704 60505704 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000371201.3:c.632G>A p.Gly211Glu p.G211E ENST00000371201 NM_152377.2 211 gGa/gAa 0 Missense_Mutation C 30 C1orf87 SNP 1 C T 60278292 60278292 Broad RPRD2 23248 broad.mit.edu GRCh37 1 150443802 150443802 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000369068.4:c.2378G>A p.Gly793Asp p.G793D ENST00000369068 NM_015203.3 793 gGt/gAt 0 Missense_Mutation G 44 RPRD2 SNP 1 G A 148710426 148710426 Broad CHIT1 1118 broad.mit.edu GRCh37 1 203194187 203194187 + synonymous_variant Silent SNP G G A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000367229.1:c.303C>T p.Phe101= p.F101= ENST00000367229 NM_003465.2 101 ttC/ttT 0 Silent G 37 CHIT1 SNP 1 G A 201460810 201460810 Broad C1orf95 375057 broad.mit.edu GRCh37 1 226784593 226784593 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000366788.3:c.293C>A p.Ala98Glu p.A98E ENST00000366788 NM_001003665.3 98 gCa/gAa 0 Missense_Mutation C 25 C1orf95 SNP 1 C A 224851216 224851216 Broad FRMPD2 143162 broad.mit.edu GRCh37 10 49392827 49392827 + synonymous_variant Silent SNP C C T novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000374201.3:c.2457G>A p.Thr819= p.T819= ENST00000374201 NM_001018071.3 819 acG/acA 0 Silent C 31 FRMPD2 SNP 10 C T 49062833 49062833 Broad CCDC6 8030 broad.mit.edu GRCh37 10 61552776 61552776 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000263102.6:c.1324C>T p.Pro442Ser p.P442S ENST00000263102 NM_005436.4 442 Ccg/Tcg 0 Missense_Mutation G 41 CCDC6 SNP 10 G A 61222782 61222782 Broad OPN4 94233 broad.mit.edu GRCh37 10 88419652 88419652 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000372071.2:c.834G>A p.Arg278= p.R278= ENST00000372071 NM_001030015.2 278 cgG/cgA 0 Silent G 43 OPN4 SNP 10 G A 88409632 88409632 Broad MYOF 26509 broad.mit.edu GRCh37 10 95089472 95089472 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000359263.4:c.4931G>A p.Arg1644Gln p.R1644Q ENST00000359263 NM_013451.3 1644 cGa/cAa 0 Missense_Mutation C 31 MYOF SNP 10 C T 95079462 95079462 Broad KCNJ1 3758 broad.mit.edu GRCh37 11 128709604 128709604 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000392664.2:c.592G>A p.Ala198Thr p.A198T ENST00000392664 NM_000220.4 198 Gca/Aca 0 Missense_Mutation C 27 KCNJ1 SNP 11 C T 128214814 128214814 Broad KCNA5 3741 broad.mit.edu GRCh37 12 5153628 5153628 + synonymous_variant Silent SNP C C A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000252321.3:c.315C>A p.Gly105= p.G105= ENST00000252321 NM_002234.3 105 ggC/ggA 0 Silent C 25 KCNA5 SNP 12 C A 5023889 5023889 Broad ATXN2 6311 broad.mit.edu GRCh37 12 111908043 111908043 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000377617.3:c.3185A>G p.His1062Arg p.H1062R ENST00000377617 NM_002973.3 1062 cAt/cGt 0 Missense_Mutation T 51 ATXN2 SNP 12 T C 110392426 110392426 Broad PITPNM2 57605 broad.mit.edu GRCh37 12 123497236 123497236 + synonymous_variant Silent SNP G G C novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000320201.4:c.339C>G p.Thr113= p.T113= ENST00000320201 NM_020845.2 113 acC/acG 0 Silent G 35 PITPNM2 SNP 12 G C 122063189 122063189 Broad NUSAP1 51203 broad.mit.edu GRCh37 15 41641381 41641381 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000559596.1:c.248G>A p.Gly83Asp p.G83D ENST00000559596 83 gGc/gAc 0 Missense_Mutation G 42 NUSAP1 SNP 15 G A 39428673 39428673 Broad CREBBP 1387 broad.mit.edu GRCh37 16 3788596 3788596 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000262367.5:c.4358T>C p.Ile1453Thr p.I1453T ENST00000262367 NM_004380.2 1453 aTc/aCc 0 Missense_Mutation A 12 CREBBP SNP 16 A G 3728597 3728597 Broad CHD9 80205 broad.mit.edu GRCh37 16 53301839 53301839 + splice_region_variant,synonymous_variant Splice_Region SNP G G T novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000566029.1:c.4518G>T p.Gly1506= p.G1506= ENST00000566029 1506 ggG/ggT 0 Silent G 44 CHD9 SNP 16 G T 51859340 51859340 Broad ADAT1 23536 broad.mit.edu GRCh37 16 75651145 75651145 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000307921.3:c.319G>T p.Ala107Ser p.A107S ENST00000307921 NM_012091.3 107 Gca/Tca 0 Missense_Mutation C 26 ADAT1 SNP 16 C A 74208646 74208646 Broad P2RX5 5026 broad.mit.edu GRCh37 17 3585199 3585200 + missense_variant Missense_Mutation DNP TC TC AA novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000225328.5:c.1054_1055delinsTT p.Glu352Leu p.E352L ENST00000225328 NM_001204519.1 352 GAg/TTg 0 Missense_Mutation TC 54 P2RX5 DNP 17 TC AA 3531949 3531948 Broad TP53 7157 broad.mit.edu GRCh37 17 7578265 7578265 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.584T>C p.Ile195Thr p.I195T ENST00000269305 NM_001126112.2 195 aTc/aCc 0 Missense_Mutation A 12 TP53 SNP 17 A G 7518990 7518990 Broad ARHGEF15 22899 broad.mit.edu GRCh37 17 8216356 8216356 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000361926.3:c.718C>T p.Arg240Trp p.R240W ENST00000361926 NM_173728.3 240 Cgg/Tgg 0 Missense_Mutation C 31 ARHGEF15 SNP 17 C T 8157081 8157081 Broad FLII 2314 broad.mit.edu GRCh37 17 18150528 18150528 + synonymous_variant Silent SNP G G A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000327031.4:c.2631C>T p.Leu877= p.L877= ENST00000327031 NM_002018.3 877 ctC/ctT 0 Silent G 45 FLII SNP 17 G A 18091253 18091253 Broad KIAA0195 9772 broad.mit.edu GRCh37 17 73488583 73488583 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000314256.7:c.1625A>C p.Tyr542Ser p.Y542S ENST00000314256 NM_014738.4 542 tAc/tCc 0 Missense_Mutation A 14 KIAA0195 SNP 17 A C 71000178 71000178 Broad DLGAP1 9229 broad.mit.edu GRCh37 18 3879897 3879897 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000315677.3:c.172G>A p.Val58Met p.V58M ENST00000315677 NM_004746.3 58 Gtg/Atg 0 Missense_Mutation C 19 DLGAP1 SNP 18 C T 3869897 3869897 Broad CDC37 11140 broad.mit.edu GRCh37 19 10506867 10506867 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000222005.2:c.115C>T p.Arg39Cys p.R39C ENST00000222005 NM_007065.3 39 Cgc/Tgc 0 Missense_Mutation G 40 CDC37 SNP 19 G A 10367867 10367867 Broad LILRA6 79168 broad.mit.edu GRCh37 19 54744273 54744273 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000396365.2:c.1135G>T p.Ala379Ser p.A379S ENST00000396365 NM_024318.2 379 Gct/Tct 0 Missense_Mutation C 26 LILRA6 SNP 19 C A 59436085 59436085 Broad GALNT14 79623 broad.mit.edu GRCh37 2 31189090 31189090 + synonymous_variant Silent SNP C C T novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000324589.5:c.393G>A p.Thr131= p.T131= ENST00000324589 NM_001253826.1 131 acG/acA 0 Silent C 27 GALNT14 SNP 2 C T 31042594 31042594 Broad GALNT13 114805 broad.mit.edu GRCh37 2 155306936 155306936 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000392825.3:c.1544G>A p.Arg515Gln p.R515Q ENST00000392825 NM_052917.2 515 cGa/cAa 0 Missense_Mutation G 37 GALNT13 SNP 2 G A 155015182 155015182 Broad EVX2 344191 broad.mit.edu GRCh37 2 176948376 176948376 + synonymous_variant Silent SNP C C A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000308618.4:c.129G>T p.Ser43= p.S43= ENST00000308618 NM_001080458.1 43 tcG/tcT 0 Silent C 27 EVX2 SNP 2 C A 176656622 176656622 Broad PAX3 5077 broad.mit.edu GRCh37 2 223160323 223160323 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000392069.2:c.375C>G p.Asn125Lys p.N125K ENST00000392069 NM_001127366.2 125 aaC/aaG 0 Missense_Mutation G 44 PAX3 SNP 2 G C 222868567 222868567 Broad ESF1 51575 broad.mit.edu GRCh37 20 13756572 13756572 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000202816.1:c.982G>C p.Gly328Arg p.G328R ENST00000202816 NM_001276380.1 328 Ggt/Cgt 0 Missense_Mutation C 21 ESF1 SNP 20 C G 13704572 13704572 Broad NINL 22981 broad.mit.edu GRCh37 20 25498416 25498416 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000278886.6:c.250G>A p.Asp84Asn p.D84N ENST00000278886 NM_025176.4 84 Gat/Aat 0 Missense_Mutation C 32 NINL SNP 20 C T 25446416 25446416 Broad BPIFB2 80341 broad.mit.edu GRCh37 20 31609117 31609117 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000170150.3:c.1225G>A p.Val409Ile p.V409I ENST00000170150 NM_025227.2 409 Gtt/Att 0 Missense_Mutation G 40 BPIL1 SNP 20 G A 31072778 31072778 Broad FAM65C 140876 broad.mit.edu GRCh37 20 49236588 49236588 + synonymous_variant Silent SNP C C T novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000327979.2:c.192G>A p.Ser64= p.S64= ENST00000327979 64 tcG/tcA 0 Silent C 23 FAM65C SNP 20 C T 48669995 48669995 Broad IL10RB 3588 broad.mit.edu GRCh37 21 34652143 34652143 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000290200.2:c.418T>C p.Tyr140His p.Y140H ENST00000290200 NM_000628.4 140 Tac/Cac 0 Missense_Mutation T 49 IL10RB SNP 21 T C 33574013 33574013 Broad ITSN1 6453 broad.mit.edu GRCh37 21 35091159 35091159 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000381318.3:c.26G>C p.Gly9Ala p.G9A ENST00000381318 NM_003024.2 9 gGt/gCt 0 Missense_Mutation G 44 ITSN1 SNP 21 G C 34013029 34013029 Broad PCNT 5116 broad.mit.edu GRCh37 21 47769677 47769677 + synonymous_variant Silent SNP G G C novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000359568.5:c.1287G>C p.Arg429= p.R429= ENST00000359568 NM_006031.5 429 cgG/cgC 0 Silent G 44 PCNT SNP 21 G C 46594105 46594105 Broad CLTCL1 8218 broad.mit.edu GRCh37 22 19183895 19183895 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000263200.10:c.4073G>A p.Trp1358Ter p.W1358* ENST00000263200 NM_007098.3 1358 tGg/tAg 0 Nonsense_Mutation C 21 CLTCL1 SNP 22 C T 17563895 17563895 Broad PROS1 5627 broad.mit.edu GRCh37 3 93611923 93611923 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000394236.3:c.1009G>A p.Val337Met p.V337M ENST00000394236 NM_000313.3 337 Gtg/Atg 0 Missense_Mutation C 19 PROS1 SNP 3 C T 95094613 95094613 Broad ZFP42 132625 broad.mit.edu GRCh37 4 188924260 188924260 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000326866.4:c.299A>C p.Lys100Thr p.K100T ENST00000326866 NM_174900.3 100 aAa/aCa 0 Missense_Mutation A 1 ZFP42 SNP 4 A C 189161254 189161254 Broad STK38 11329 broad.mit.edu GRCh37 6 36466139 36466139 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000229812.7:c.1076+1G>A p.X359_splice ENST00000229812 NM_007271.2 0 Splice_Site_SNP C 18 STK38 SNP 6 C T 36574117 36574117 Broad GRM1 2911 broad.mit.edu GRCh37 6 146755633 146755633 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000361719.2:c.3286G>A p.Asp1096Asn p.D1096N ENST00000361719 1096 Gac/Aac 0 Missense_Mutation G 37 GRM1 SNP 6 G A 146797326 146797326 Broad MAS1 4142 broad.mit.edu GRCh37 6 160328045 160328045 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000252660.4:c.58G>T p.Gly20Cys p.G20C ENST00000252660 NM_002377.2 20 Ggc/Tgc 0 Missense_Mutation G 47 MAS1 SNP 6 G T 160248035 160248035 Broad RBM48 84060 broad.mit.edu GRCh37 7 92164260 92164260 + synonymous_variant Silent SNP T T C novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000265732.5:c.993T>C p.Asn331= p.N331= ENST00000265732 NM_032120.2 331 aaT/aaC 0 Silent T 52 C7orf64 SNP 7 T C 92002196 92002196 Broad SVOPL 136306 broad.mit.edu GRCh37 7 138310718 138310718 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000419765.3:c.1259C>G p.Ala420Gly p.A420G ENST00000419765 NM_001139456.1 420 gCt/gGt 0 Missense_Mutation G 34 SVOPL SNP 7 G C 137961258 137961258 Broad NOS3 4846 broad.mit.edu GRCh37 7 150698402 150698402 + synonymous_variant Silent SNP G G A novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000297494.3:c.1317G>A p.Gly439= p.G439= ENST00000297494 NM_000603.4 439 ggG/ggA 0 Silent G 43 NOS3 SNP 7 G A 150329335 150329335 Broad PTBP3 9991 broad.mit.edu GRCh37 9 114989902 114989902 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000458258.1:c.1255A>C p.Asn419His p.N419H ENST00000458258 NM_001244898.1 419 Aac/Cac 0 Missense_Mutation T 62 ROD1 SNP 9 T G 114029723 114029723 Broad CTAG2 30848 broad.mit.edu GRCh37 X 153880825 153880825 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown x x x ENST00000247306.4:c.350C>A p.Pro117His p.P117H ENST00000247306 NM_020994.3 117 cCc/cAc 0 Missense_Mutation G 43 CTAG2 SNP 23 G T 153534019 153534019 Broad UBXN11 91544 broad.mit.edu GRCh37 1 26608812 26608889 + inframe_deletion In_Frame_Del DEL CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA - novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000374222.1:c.1464_1541del p.Pro489_Gly514del p.P489_G514del ENST00000374222 488 ggTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGGa/gga 0 In_Frame_Del CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA 30 UBXN11 DEL 1 - CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA 26481476 26481399 Broad FAM86B2 653333 broad.mit.edu GRCh37 8 12291593 12291595 + inframe_deletion In_Frame_Del DEL CTG CTG - novel Unknown TCGA-31-1950-01 TCGA-31-1950-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000262365.4:c.125_127del p.Ser42_Asp43delinsTyr p.S42_D43delinsY ENST00000262365 NM_001137610.1 42 tCAGat/tat 0 In_Frame_Del CTG 32 FAM86B2 DEL 8 - CTG 12335966 12335964 Broad PDE6B 5158 genome.wustl.edu GRCh37 4 647931 647931 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 G G A A G A Unknown Valid LOH 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000496514.1:c.915G>A p.Thr305= p.T305= ENST00000496514 305 acG/acA 0 Silent G 38 PDE6B SNP 4 A A 637931 637931 WashU CNTN4 152330 genome.wustl.edu GRCh37 3 3078974 3078974 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397461.1:c.2054C>A p.Pro685His p.P685H ENST00000397461 NM_001206955.1 685 cCc/cAc 0 Missense_Mutation C 22 CNTN4 SNP 3 C A 3053974 3053974 WashU RP11-397J20.1 100131257 genome.wustl.edu GRCh37 7 7118642 7118642 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000497346.1:n.732G>T *244* ENST00000497346 0 Nonsense_Mutation C 29 LOC100131257 SNP 7 C A 7085167 7085167 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578257 7578257 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.592G>T p.Glu198Ter p.E198* ENST00000269305 NM_001126112.2 198 Gaa/Taa 0 Nonsense_Mutation C 30 TP53 SNP 17 A A 7518982 7518982 WashU MYH10 4628 genome.wustl.edu GRCh37 17 8421974 8421974 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360416.3:c.2479G>A p.Val827Ile p.V827I ENST00000360416 NM_001256012.1 827 Gtt/Att 0 Missense_Mutation C 19 MYH10 SNP 17 T T 8362699 8362699 WashU TPTE 7179 genome.wustl.edu GRCh37 21 10941945 10941945 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361285.4:c.758C>A p.Ser253Tyr p.S253Y ENST00000361285 NM_199261.2 253 tCt/tAt 0 Missense_Mutation G 33 TPTE SNP 21 G T 9963816 9963816 WashU DNAH5 1767 genome.wustl.edu GRCh37 5 13864743 13864743 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265104.4:c.4359T>A p.Cys1453Ter p.C1453* ENST00000265104 NM_001369.2 1453 tgT/tgA 0 Nonsense_Mutation A 10 DNAH5 SNP 5 A T 13917743 13917743 WashU DNAH5 1767 genome.wustl.edu GRCh37 5 13894789 13894789 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265104.4:c.2401G>A p.Ala801Thr p.A801T ENST00000265104 NM_001369.2 801 Gct/Act 0 Missense_Mutation C 26 DNAH5 SNP 5 C T 13947789 13947789 WashU MKL2 57496 genome.wustl.edu GRCh37 16 14339512 14339512 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000318282.5:c.1207T>G p.Leu403Val p.L403V ENST00000318282 403 Tta/Gta 0 Missense_Mutation T 56 MKL2 SNP 16 T G 14247013 14247013 WashU PADI4 23569 genome.wustl.edu GRCh37 1 17685855 17685855 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000375448.4:c.1710C>T p.Leu570= p.L570= ENST00000375448 NM_012387.2 570 ctC/ctT 0 Silent C 32 PADI4 SNP 1 C T 17558442 17558442 WashU OR4N4 283694 genome.wustl.edu GRCh37 15 22383320 22383320 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328795.4:c.848A>T p.Asn283Ile p.N283I ENST00000328795 NM_001005241.2 283 aAt/aTt 0 Missense_Mutation A 4 OR4N4 SNP 15 A T 19884684 19884684 WashU KCNJ12 3768 genome.wustl.edu GRCh37 17 21318782 21318782 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 G G G A G A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000583088.1:c.128G>A p.Arg43His p.R43H ENST00000583088 NM_021012.4 43 cGc/cAc 0 Missense_Mutation G 38 KCNJ12 SNP 17 G A 21259375 21259375 WashU IFNA1 3439 genome.wustl.edu GRCh37 9 21440580 21440580 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276927.1:c.74A>G p.Asp25Gly p.D25G ENST00000276927 NM_024013.2 25 gAt/gGt 0 Missense_Mutation A 12 IFNA1 SNP 9 A G 21430580 21430580 WashU ATAD5 79915 genome.wustl.edu GRCh37 17 29162262 29162262 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321990.4:c.1163C>T p.Ser388Phe p.S388F ENST00000321990 NM_024857.3 388 tCt/tTt 0 Missense_Mutation C 32 ATAD5 SNP 17 C T 26186388 26186388 WashU BAZ1A 11177 genome.wustl.edu GRCh37 14 35331430 35331430 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360310.1:c.212A>T p.Glu71Val p.E71V ENST00000360310 NM_013448.2 71 gAa/gTa 0 Missense_Mutation T 62 BAZ1A SNP 14 T A 34401181 34401181 WashU PPIEL genome.wustl.edu GRCh37 1 40020020 40020020 + non_coding_transcript_exon_variant,non_coding_transcript_variant RNA SNP C C A novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C C A C A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000427240.1:n.115G>T *39* ENST00000427240 0 Splice_Site_SNP C 18 LOC728448 SNP 1 C A 39792607 39792607 WashU CCR9 10803 genome.wustl.edu GRCh37 3 45943248 45943248 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357632.2:c.968G>T p.Arg323Ile p.R323I ENST00000357632 NM_031200.2 323 aGa/aTa 0 Missense_Mutation G 33 CCR9 SNP 3 G T 45918252 45918252 WashU PKHD1 5314 genome.wustl.edu GRCh37 6 51890338 51890338 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371117.3:c.4270G>C p.Asp1424His p.D1424H ENST00000371117 NM_138694.3 1424 Gac/Cac 0 Missense_Mutation C 29 PKHD1 SNP 6 C G 51998297 51998297 WashU TCF12 6938 genome.wustl.edu GRCh37 15 57574749 57574749 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000438423.2:c.2085G>C p.Gly695= p.G695= ENST00000438423 NM_207037.1 695 ggG/ggC 0 Silent G 42 TCF12 SNP 15 G C 55362041 55362041 WashU PPM1H 57460 genome.wustl.edu GRCh37 12 63087767 63087767 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000228705.6:c.1086C>T p.Thr362= p.T362= ENST00000228705 NM_020700.1 362 acC/acT 0 Silent G 47 PPM1H SNP 12 G A 61374034 61374034 WashU SLC22A25 387601 genome.wustl.edu GRCh37 11 62931459 62931459 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306494.6:c.1481G>A p.Arg494Gln p.R494Q ENST00000306494 NM_199352.3 494 cGa/cAa 0 Missense_Mutation C 31 SLC22A25 SNP 11 C T 62688035 62688035 WashU GPHB5 122876 genome.wustl.edu GRCh37 14 63779817 63779817 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000539258.1:n.274A>G *92* ENST00000539258 0 Missense_Mutation T 62 GPHB5 SNP 14 T C 62849570 62849570 WashU ZNF446 55663 genome.wustl.edu GRCh37 19 58988591 58988591 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000594369.1:c.6A>G p.Pro2= p.P2= ENST00000594369 NM_017908.2 2 ccA/ccG 0 Silent A 8 ZNF446 SNP 19 G G 63680403 63680403 WashU GAL3ST3 89792 genome.wustl.edu GRCh37 11 65811100 65811100 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C T T T T Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312006.4:c.174G>A p.Pro58= p.P58= ENST00000312006 NM_033036.2 58 ccG/ccA 0 Silent C 27 GAL3ST3 SNP 11 T T 65567676 65567676 WashU KBTBD8 84541 genome.wustl.edu GRCh37 3 67058594 67058594 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000417314.2:c.1591C>G p.Gln531Glu p.Q531E ENST00000417314 531 Cag/Gag 0 Missense_Mutation C 21 KBTBD8 SNP 3 C G 67141284 67141284 WashU ADHFE1 137872 genome.wustl.edu GRCh37 8 67357524 67357524 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396623.3:c.425C>A p.Thr142Asn p.T142N ENST00000396623 NM_144650.2 142 aCc/aAc 0 Missense_Mutation C 18 ADHFE1 SNP 8 C A 67520078 67520078 WashU UGT2A1 10941 genome.wustl.edu GRCh37 4 70465031 70465031 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000457664.2:c.824G>A p.Arg275His p.R275H ENST00000457664 NM_001105677.2 275 cGt/cAt 0 Missense_Mutation C 19 UGT2A1 SNP 4 C T 70499620 70499620 WashU TRPA1 8989 genome.wustl.edu GRCh37 8 72950287 72950287 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262209.4:c.2316T>C p.Thr772= p.T772= ENST00000262209 NM_007332.2 772 acT/acC 0 Silent A 3 TRPA1 SNP 8 A G 73112841 73112841 WashU OR7E22P genome.wustl.edu GRCh37 3 75406451 75406451 + non_coding_transcript_exon_variant RNA SNP C C G novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000478335.1:n.204G>C *68* ENST00000478335 0 Missense_Mutation C 29 ENSG00000179799 SNP 3 C G 75489141 75489141 WashU NARS2 79731 genome.wustl.edu GRCh37 11 78279748 78279748 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000281038.5:c.302G>C p.Ser101Thr p.S101T ENST00000281038 NM_001243251.1 101 aGt/aCt 0 Missense_Mutation C 20 NARS2 SNP 11 C G 77957396 77957396 WashU GRID1 2894 genome.wustl.edu GRCh37 10 87966324 87966324 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327946.7:c.317C>T p.Thr106Met p.T106M ENST00000327946 NM_017551.2 106 aCg/aTg 0 Missense_Mutation G 40 GRID1 SNP 10 G A 87956304 87956304 WashU IGKV4-1 28908 genome.wustl.edu GRCh37 2 89185449 89185449 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390243.2:c.143G>T p.Ser48Ile p.S48I ENST00000390243 48 aGt/aTt 0 Missense_Mutation G 36 IGKV4-1 SNP 2 G T 88966564 88966564 WashU RP11-313I2.10 genome.wustl.edu GRCh37 11 89500140 89500140 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000527402.1:n.223T>C *75* ENST00000527402 0 Missense_Mutation A 12 ENSG00000204456 SNP 11 A G 89139788 89139788 WashU EPHA3 2042 genome.wustl.edu GRCh37 3 89499497 89499497 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336596.2:c.2667G>A p.Lys889= p.K889= ENST00000336596 NM_005233.5 889 aaG/aaA 0 Silent G 33 EPHA3 SNP 3 G A 89582187 89582187 WashU TRIM4 89122 genome.wustl.edu GRCh37 7 99489913 99489913 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355947.2:c.1376T>C p.Phe459Ser p.F459S ENST00000355947 NM_033017.3 459 tTc/tCc 0 Missense_Mutation A 9 TRIM4 SNP 7 A G 99327849 99327849 WashU ADH1C 126 genome.wustl.edu GRCh37 4 100257932 100257932 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000515683.1:c.1105A>G p.Ile369Val p.I369V ENST00000515683 NM_000669.3 369 Atc/Gtc 0 Missense_Mutation T 49 ADH1C SNP 4 T C 100476955 100476955 WashU RHOF 54509 genome.wustl.edu GRCh37 12 122217458 122217458 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000267205.2:c.582C>G p.Ser194Arg p.S194R ENST00000267205 NM_019034.2 194 agC/agG 0 Missense_Mutation G 38 RHOF SNP 12 G C 120701841 120701841 WashU ACPP 55 genome.wustl.edu GRCh37 3 132075676 132075676 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000351273.7:c.1115G>T p.Cys372Phe p.C372F ENST00000351273 NM_001134194.1 372 tGt/tTt 0 Missense_Mutation G 48 ACPP SNP 3 G T 133558366 133558366 WashU SSBP1 6742 genome.wustl.edu GRCh37 7 141443442 141443442 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000481508.1:c.167T>G p.Ile56Arg p.I56R ENST00000481508 NM_001256510.1 56 aTa/aGa 0 Missense_Mutation T 49 SSBP1 SNP 7 T G 141089911 141089911 WashU HCN3 57657 genome.wustl.edu GRCh37 1 155254337 155254337 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368358.3:c.878C>T p.Ser293Leu p.S293L ENST00000368358 NM_020897.2 293 tCg/tTg 0 Missense_Mutation C 31 HCN3 SNP 1 C T 153520961 153520961 WashU ADIPOQ 9370 genome.wustl.edu GRCh37 3 186572201 186572201 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000412955.2:c.443G>T p.Gly148Val p.G148V ENST00000412955 148 gGt/gTt 0 Missense_Mutation G 44 ADIPOQ SNP 3 G T 188054895 188054895 WashU DIEXF 27042 genome.wustl.edu GRCh37 1 210015727 210015728 + missense_variant Missense_Mutation DNP GG GG CT novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 GG GG GG CT GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000491415.2:c.1603_1604delinsCT p.Gly535Leu p.G535L ENST00000491415 NM_014388.6 535 GGg/CTg 0 Missense GG 47 C1orf107 DNP 1 GG CT 208082351 208082350 WashU ILKAP 80895 genome.wustl.edu GRCh37 2 239102952 239102952 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000254654.3:c.142T>C p.Phe48Leu p.F48L ENST00000254654 NM_030768.2 48 Ttt/Ctt 0 Missense_Mutation A 1 ILKAP SNP 2 A G 238767691 238767691 WashU EXO1 9156 genome.wustl.edu GRCh37 1 242016670 242016670 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366548.3:c.292G>A p.Ala98Thr p.A98T ENST00000366548 NM_130398.3 98 Gcc/Acc 0 Missense_Mutation G 34 EXO1 SNP 1 G A 240083293 240083293 WashU CACNA2D4 93589 genome.wustl.edu GRCh37 12 1996218 1996218 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1413-01 TCGA-24-1413-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382722.5:c.799G>T p.Asp267Tyr p.D267Y ENST00000382722 NM_172364.4 267 Gat/Tat 0 Missense_Mutation C 29 CACNA2D4 SNP 12 C A 1866479 1866479 WashU TRPM5 29850 genome.wustl.edu GRCh37 11 2432892 2432892 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000155858.6:c.2580C>G p.Gly860= p.G860= ENST00000155858 NM_014555.3 860 ggC/ggG 0 Silent G 42 TRPM5 SNP 11 C C 2389468 2389468 WashU TMC2 117532 genome.wustl.edu GRCh37 20 2592923 2592923 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358864.1:c.1680C>A p.Pro560= p.P560= ENST00000358864 NM_080751.2 560 ccC/ccA 0 Silent C 22 TMC2 SNP 20 C A 2540923 2540923 WashU PRMT8 56341 genome.wustl.edu GRCh37 12 3686064 3686064 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382622.3:c.740T>G p.Met247Arg p.M247R ENST00000382622 NM_019854.4 247 aTg/aGg 0 Missense_Mutation T 51 PRMT8 SNP 12 T G 3556325 3556325 WashU RBAK 57786 genome.wustl.edu GRCh37 7 5103786 5103786 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396912.1:c.699T>C p.Tyr233= p.Y233= ENST00000396912 NM_021163.3 233 taT/taC 0 Silent T 51 RBAK SNP 7 T C 5070312 5070312 WashU TARDBPP1 genome.wustl.edu GRCh37 20 6181907 6181907 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000442013.1:n.932C>G *311* ENST00000442013 0 Missense_Mutation G 42 LOC643503 SNP 20 G C 6129907 6129907 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577018 7577018 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.919+1G>A p.X307_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 18 TP53 SNP 17 T T 7517743 7517743 WashU FOXJ2 55810 genome.wustl.edu GRCh37 12 8200495 8200495 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000162391.3:c.835G>A p.Gly279Arg p.G279R ENST00000162391 NM_018416.2 279 Ggg/Agg 0 Missense_Mutation G 43 FOXJ2 SNP 12 G A 8091762 8091762 WashU RP11-1396O13.13 genome.wustl.edu GRCh37 4 9388937 9388937 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000508324.1:c.77C>A p.Thr26Lys p.T26K ENST00000508324 26 aCa/aAa 0 Missense_Mutation G 48 ENSG00000219492 SNP 4 G T 8998035 8998035 WashU ZNF491 126069 genome.wustl.edu GRCh37 19 11917171 11917171 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000323169.5:c.403T>A p.Phe135Ile p.F135I ENST00000323169 NM_152356.3 135 Ttt/Att 0 Missense_Mutation T 60 ZNF491 SNP 19 T A 11778171 11778171 WashU EPHA2 1969 genome.wustl.edu GRCh37 1 16456018 16456018 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358432.5:c.2736G>C p.Trp912Cys p.W912C ENST00000358432 NM_004431.3 912 tgG/tgC 0 Missense_Mutation C 26 EPHA2 SNP 1 G G 16328605 16328605 WashU ZNF682 91120 genome.wustl.edu GRCh37 19 20117349 20117349 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397165.2:c.962C>T p.Ala321Val p.A321V ENST00000397165 NM_033196.2 321 gCc/gTc 0 Missense_Mutation G 42 ZNF682 SNP 19 G A 19978349 19978349 WashU HNRNPA2B1 3181 genome.wustl.edu GRCh37 7 26233226 26233226 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354667.4:c.846C>G p.Gly282= p.G282= ENST00000354667 NM_031243.2 282 ggC/ggG 0 Missense_Mutation G 34 HNRNPA2B1 SNP 7 C C 26199751 26199751 WashU RABEP2 79874 genome.wustl.edu GRCh37 16 28936427 28936427 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C A A A A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358201.4:c.58G>T p.Ala20Ser p.A20S ENST00000358201 NM_024816.2 20 Gct/Tct 0 Missense_Mutation C 26 RABEP2 SNP 16 A A 28843928 28843928 WashU FNDC8 54752 genome.wustl.edu GRCh37 17 33457378 33457378 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000158009.5:c.900C>T p.Pro300= p.P300= ENST00000158009 NM_017559.2 300 ccC/ccT 0 Silent C 22 FNDC8 SNP 17 T T 30481491 30481491 WashU BRCA2 675 genome.wustl.edu GRCh37 13 32913404 32913404 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380152.3:c.4912A>G p.Lys1638Glu p.K1638E ENST00000380152 1638 Aaa/Gaa 0 Missense_Mutation A 13 BRCA2 SNP 13 G G 31811404 31811404 WashU EVA1C 59271 genome.wustl.edu GRCh37 21 33887379 33887379 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300255.2:c.1205G>T p.Ser402Ile p.S402I ENST00000300255 NM_058187.3 402 aGt/aTt 0 Missense_Mutation G 36 C21orf63 SNP 21 T T 32809250 32809250 WashU FAM83C 128876 genome.wustl.edu GRCh37 20 33874443 33874443 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374408.3:c.2139G>C p.Leu713= p.L713= ENST00000374408 NM_178468.5 713 ctG/ctC 0 Silent C 21 FAM83C SNP 20 C G 33337857 33337857 WashU PRLR 5618 genome.wustl.edu GRCh37 5 35084596 35084596 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382002.5:c.349C>A p.Leu117Ile p.L117I ENST00000382002 NM_000949.5 117 Ctt/Att 0 Missense_Mutation G 36 PRLR SNP 5 G T 35120353 35120353 WashU FAM83D 81610 genome.wustl.edu GRCh37 20 37580833 37580833 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000217429.4:c.1518G>T p.Lys506Asn p.K506N ENST00000217429 NM_030919.2 506 aaG/aaT 0 Missense_Mutation G 36 FAM83D SNP 20 G T 37014247 37014247 WashU PRKD3 23683 genome.wustl.edu GRCh37 2 37518122 37518122 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379066.1:c.448T>G p.Phe150Val p.F150V ENST00000379066 150 Ttc/Gtc 0 Missense_Mutation A 3 PRKD3 SNP 2 A C 37371626 37371626 WashU XIRP1 165904 genome.wustl.edu GRCh37 3 39227071 39227071 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000340369.3:c.3866A>T p.Asp1289Val p.D1289V ENST00000340369 NM_194293.2 1289 gAc/gTc 0 Missense_Mutation T 58 XIRP1 SNP 3 A A 39202075 39202075 WashU BMP8B 656 genome.wustl.edu GRCh37 1 40230371 40230371 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000372827.3:c.792A>G p.Ala264= p.A264= ENST00000372827 NM_001720.3 264 gcA/gcG 0 Silent T 55 BMP8B SNP 1 T C 40002958 40002958 WashU MX2 4600 genome.wustl.edu GRCh37 21 42749907 42749907 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330714.3:c.441C>T p.Ser147= p.S147= ENST00000330714 NM_002463.1 147 agC/agT 0 Silent C 27 MX2 SNP 21 T T 41671777 41671777 WashU UMODL1 89766 genome.wustl.edu GRCh37 21 43533871 43533871 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000408989.2:c.2677C>A p.His893Asn p.H893N ENST00000408989 NM_173568.3 893 Cac/Aac 0 Missense_Mutation C 25 UMODL1 SNP 21 A A 42406940 42406940 WashU TCEB3B 51224 genome.wustl.edu GRCh37 18 44560049 44560049 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332567.4:c.1587G>A p.Leu529= p.L529= ENST00000332567 NM_016427.2 529 ctG/ctA 0 Silent C 25 TCEB3B SNP 18 C T 42814047 42814047 WashU ZNF197 10168 genome.wustl.edu GRCh37 3 44684347 44684347 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396058.1:c.1725C>A p.Phe575Leu p.F575L ENST00000396058 575 ttC/ttA 0 Missense_Mutation C 29 ZNF197 SNP 3 C A 44659351 44659351 WashU BSN 8927 genome.wustl.edu GRCh37 3 49689686 49689686 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296452.4:c.2697C>A p.His899Gln p.H899Q ENST00000296452 NM_003458.3 899 caC/caA 0 Missense_Mutation C 17 BSN SNP 3 C A 49664690 49664690 WashU CLPTM1 1209 genome.wustl.edu GRCh37 19 45477794 45477794 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337392.5:c.408G>T p.Trp136Cys p.W136C ENST00000337392 NM_001294.2 136 tgG/tgT 0 Missense_Mutation G 41 CLPTM1 SNP 19 G T 50169634 50169634 WashU DDC 1644 genome.wustl.edu GRCh37 7 50596924 50596924 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000444124.2:c.552G>A p.Val184= p.V184= ENST00000444124 NM_001082971.1 184 gtG/gtA 0 Silent C 21 DDC SNP 7 T T 50564418 50564418 WashU OR2AP1 121129 genome.wustl.edu GRCh37 12 55968828 55968828 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321688.1:c.630G>A p.Val210= p.V210= ENST00000321688 NM_001258285.1 210 gtG/gtA 0 Silent G 46 OR2AP1 SNP 12 G A 54255095 54255095 WashU EXOC1 55763 genome.wustl.edu GRCh37 4 56763055 56763055 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381295.2:c.2126T>G p.Val709Gly p.V709G ENST00000381295 NM_001024924.1 709 gTa/gGa 0 Missense_Mutation T 57 EXOC1 SNP 4 T G 56457812 56457812 WashU AASDH 132949 genome.wustl.edu GRCh37 4 57215995 57215995 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000205214.6:c.1922G>T p.Ser641Ile p.S641I ENST00000205214 NM_181806.2 641 aGt/aTt 0 Missense_Mutation C 20 AASDH SNP 4 C A 56910752 56910752 WashU POLR2B 5431 genome.wustl.edu GRCh37 4 57865797 57865797 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381227.1:c.750T>A p.Ser250Arg p.S250R ENST00000381227 250 agT/agA 0 Missense_Mutation T 59 POLR2B SNP 4 T A 57560554 57560554 WashU OR5B21 219968 genome.wustl.edu GRCh37 11 58275032 58275032 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360374.2:c.547C>G p.Leu183Val p.L183V ENST00000360374 NM_001005218.1 183 Ctg/Gtg 0 Missense_Mutation G 35 OR5B21 SNP 11 G C 58031608 58031608 WashU LRRC7 57554 genome.wustl.edu GRCh37 1 70573490 70573490 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000035383.5:c.4487C>A p.Pro1496His p.P1496H ENST00000035383 NM_020794.2 1496 cCt/cAt 0 Missense_Mutation C 24 LRRC7 SNP 1 A A 70346078 70346078 WashU INGX 27160 genome.wustl.edu GRCh37 X 70712322 70712322 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G T T T T Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359239.3:n.457C>A *153* ENST00000359239 0 Silent G 38 ENSG00000215116 SNP 23 T T 70629047 70629047 WashU QRICH2 84074 genome.wustl.edu GRCh37 17 74288004 74288004 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262765.5:c.2306G>T p.Gly769Val p.G769V ENST00000262765 NM_032134.1 769 gGt/gTt 0 Missense_Mutation C 18 QRICH2 SNP 17 C A 71799599 71799599 WashU KIAA2022 340533 genome.wustl.edu GRCh37 X 73959989 73959989 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000055682.6:c.4403A>G p.Glu1468Gly p.E1468G ENST00000055682 NM_001008537.2 1468 gAg/gGg 0 Missense_Mutation T 54 KIAA2022 SNP 23 T C 73876714 73876714 WashU ALDH1A1 216 genome.wustl.edu GRCh37 9 75543929 75543929 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297785.3:c.321G>A p.Glu107= p.E107= ENST00000297785 NM_000689.4 107 gaG/gaA 0 Silent C 20 ALDH1A1 SNP 9 C T 74733749 74733749 WashU C17orf70 80233 genome.wustl.edu GRCh37 17 79517853 79517853 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C A A C A Unknown Valid LOH 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327787.8:c.667G>T p.Ala223Ser p.A223S ENST00000327787 223 Gcc/Tcc 0 Missense_Mutation C 27 C17orf70 SNP 17 A A 77128295 77128295 WashU ALG8 79053 genome.wustl.edu GRCh37 11 77838457 77838457 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000299626.5:c.121C>G p.Arg41Gly p.R41G ENST00000299626 NM_024079.4 41 Cga/Gga 0 Missense_Mutation G 39 ALG8 SNP 11 G C 77516105 77516105 WashU KCNMA1 3778 genome.wustl.edu GRCh37 10 78944639 78944639 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000404857.1:c.638T>G p.Phe213Cys p.F213C ENST00000404857 NM_001161353.1 213 tTc/tGc 0 Missense_Mutation A 9 KCNMA1 SNP 10 A C 78614645 78614645 WashU PDE8A 5151 genome.wustl.edu GRCh37 15 85669589 85669589 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310298.4:c.2237A>C p.Glu746Ala p.E746A ENST00000310298 746 gAa/gCa 0 Missense_Mutation A 9 PDE8A SNP 15 A C 83470593 83470593 WashU AGTPBP1 23287 genome.wustl.edu GRCh37 9 88307703 88307703 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376083.3:c.58G>A p.Gly20Arg p.G20R ENST00000376083 NM_015239.2 20 Gga/Aga 0 Missense_Mutation C 24 AGTPBP1 SNP 9 C T 87497523 87497523 WashU RIPK2 8767 genome.wustl.edu GRCh37 8 90782139 90782139 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000220751.4:c.623T>A p.Ile208Asn p.I208N ENST00000220751 NM_003821.5 208 aTc/aAc 0 Missense_Mutation T 50 RIPK2 SNP 8 T A 90851276 90851276 WashU SLC26A7 115111 genome.wustl.edu GRCh37 8 92307822 92307822 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000309536.2:c.368T>G p.Met123Arg p.M123R ENST00000309536 NM_134266.1 123 aTg/aGg 0 Missense_Mutation T 51 SLC26A7 SNP 8 T G 92376998 92376998 WashU TRRAP 8295 genome.wustl.edu GRCh37 7 98601890 98601890 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359863.4:c.10345G>C p.Glu3449Gln p.E3449Q ENST00000359863 NM_001244580.1 3449 Gag/Cag 0 Missense_Mutation G 41 TRRAP SNP 7 G C 98439826 98439826 WashU DNM1P47 genome.wustl.edu GRCh37 15 102304869 102304869 + non_coding_transcript_exon_variant,non_coding_transcript_variant RNA SNP T T C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 T T T C T C Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000561463.1:n.12915T>C *4305* ENST00000561463 0 Missense_Mutation T 57 ENSG00000214350 SNP 15 T C 100122392 100122392 WashU AHNAK2 113146 genome.wustl.edu GRCh37 14 105406647 105406647 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333244.5:c.15141T>G p.Pro5047= p.P5047= ENST00000333244 NM_138420.2 5047 ccT/ccG 0 Silent A 3 AHNAK2 SNP 14 A C 104477692 104477692 WashU VAV3 10451 genome.wustl.edu GRCh37 1 108313293 108313293 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370056.4:c.613G>T p.Glu205Ter p.E205* ENST00000370056 NM_006113.4 205 Gaa/Taa 0 Nonsense_Mutation C 32 VAV3 SNP 1 C A 108114816 108114816 WashU CHIA 27159 genome.wustl.edu GRCh37 1 111861300 111861300 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369740.1:c.915G>A p.Glu305= p.E305= ENST00000369740 NM_001258001.1 305 gaG/gaA 0 Silent G 35 CHIA SNP 1 G A 111662823 111662823 WashU DRD3 1814 genome.wustl.edu GRCh37 3 113890742 113890742 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000383673.2:c.98C>A p.Ala33Asp p.A33D ENST00000383673 NM_000796.3 33 gCc/gAc 0 Missense_Mutation G 42 DRD3 SNP 3 G T 115373432 115373432 WashU DPP10 57628 genome.wustl.edu GRCh37 2 116447457 116447457 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393147.2:c.548T>A p.Val183Asp p.V183D ENST00000393147 NM_001178034.1 183 gTc/gAc 0 Missense_Mutation T 58 DPP10 SNP 2 T A 116163927 116163927 WashU ATP1A1 476 genome.wustl.edu GRCh37 1 116932964 116932964 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000537345.1:c.1153C>T p.Arg385Trp p.R385W ENST00000537345 NM_001160233.1 385 Cgg/Tgg 0 Missense_Mutation C 23 ATP1A1 SNP 1 C T 116734487 116734487 WashU DOCK11 139818 genome.wustl.edu GRCh37 X 117699974 117699974 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276202.7:c.700A>G p.Lys234Glu p.K234E ENST00000276202 NM_144658.3 234 Aaa/Gaa 0 Missense_Mutation A 5 DOCK11 SNP 23 A G 117584002 117584002 WashU DCBLD1 285761 genome.wustl.edu GRCh37 6 117853527 117853527 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296955.8:c.690G>T p.Gly230= p.G230= ENST00000296955 NM_173674.1 230 ggG/ggT 0 Silent G 41 DCBLD1 SNP 6 T T 117960220 117960220 WashU SPAG17 200162 genome.wustl.edu GRCh37 1 118506476 118506476 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336338.5:c.6618A>G p.Thr2206= p.T2206= ENST00000336338 NM_206996.2 2206 acA/acG 0 Silent T 63 SPAG17 SNP 1 T C 118307999 118307999 WashU AACS 65985 genome.wustl.edu GRCh37 12 125609498 125609498 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316519.6:c.1237C>T p.Pro413Ser p.P413S ENST00000316519 NM_023928.3 413 Cca/Tca 0 Missense_Mutation C 22 AACS SNP 12 C T 124175451 124175451 WashU FER1L6 654463 genome.wustl.edu GRCh37 8 125109589 125109589 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000522917.1:c.4773G>A p.Arg1591= p.R1591= ENST00000522917 NM_001039112.2 1591 agG/agA 0 Silent G 42 FER1L6 SNP 8 G A 125178770 125178770 WashU MKI67 4288 genome.wustl.edu GRCh37 10 129901238 129901238 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368654.3:c.8866C>G p.Leu2956Val p.L2956V ENST00000368654 NM_002417.4 2956 Cta/Gta 0 Missense_Mutation G 33 MKI67 SNP 10 G C 129791228 129791228 WashU FAM135B 51059 genome.wustl.edu GRCh37 8 139153454 139153454 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395297.1:c.3777C>G p.Thr1259= p.T1259= ENST00000395297 NM_015912.3 1259 acC/acG 0 Silent G 43 FAM135B SNP 8 C C 139222636 139222636 WashU DZIP1L 199221 genome.wustl.edu GRCh37 3 137822448 137822448 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327532.2:c.366G>C p.Gln122His p.Q122H ENST00000327532 NM_173543.2 122 caG/caC 0 Missense_Mutation C 28 DZIP1L SNP 3 C G 139305138 139305138 WashU PCDHGA12 26025 genome.wustl.edu GRCh37 5 140890625 140890625 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000252085.3:c.2684T>G p.Val895Gly p.V895G ENST00000252085 NM_003735.2 895 gTc/gGc 0 Missense_Mutation T 58 PCDHGC5 SNP 5 T G 140870809 140870809 WashU ZBTB38 253461 genome.wustl.edu GRCh37 3 141164553 141164553 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000514251.1:c.3323C>A p.Thr1108Asn p.T1108N ENST00000514251 1108 aCc/aAc 0 Missense_Mutation C 18 ZBTB38 SNP 3 C A 142647243 142647243 WashU RASA2 5922 genome.wustl.edu GRCh37 3 141231095 141231095 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286364.3:c.224G>A p.Arg75His p.R75H ENST00000286364 75 cGt/cAt 0 Missense_Mutation G 40 RASA2 SNP 3 G A 142713785 142713785 WashU F8 2157 genome.wustl.edu GRCh37 X 154133086 154133086 + splice_region_variant,synonymous_variant Splice_Region SNP C C A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360256.4:c.5586G>T p.Leu1862= p.L1862= ENST00000360256 NM_000132.3 1862 ctG/ctT 0 Silent C 21 F8 SNP 23 C A 153786280 153786280 WashU NTRK1 4914 genome.wustl.edu GRCh37 1 156837923 156837923 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000524377.1:c.456T>C p.Cys152= p.C152= ENST00000524377 NM_002529.3 152 tgT/tgC 0 Silent T 60 NTRK1 SNP 1 T C 155104547 155104547 WashU ITK 3702 genome.wustl.edu GRCh37 5 156635998 156635998 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422843.3:c.237G>A p.Pro79= p.P79= ENST00000422843 NM_005546.3 79 ccG/ccA 0 Silent G 40 ITK SNP 5 G A 156568576 156568576 WashU MLLT4 4301 genome.wustl.edu GRCh37 6 168352358 168352358 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392108.3:c.4303A>T p.Arg1435Ter p.R1435* ENST00000392108 NM_001040000.2 1435 Aga/Tga 0 Nonsense_Mutation A 11 MLLT4 SNP 6 T T 168095207 168095207 WashU HNRNPA3 220988 genome.wustl.edu GRCh37 2 178082496 178082496 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392524.2:c.884G>T p.Gly295Val p.G295V ENST00000392524 295 gGa/gTa 0 Missense_Mutation G 41 HNRNPA3 SNP 2 G T 177790742 177790742 WashU FAT1 2195 genome.wustl.edu GRCh37 4 187630513 187630513 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000441802.2:c.469T>C p.Ser157Pro p.S157P ENST00000441802 NM_005245.3 157 Tct/Cct 0 Missense_Mutation A 9 FAT1 SNP 4 A G 187867507 187867507 WashU MAP2 4133 genome.wustl.edu GRCh37 2 210517973 210517973 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360351.4:c.79C>G p.His27Asp p.H27D ENST00000360351 NM_002374.3 27 Cat/Gat 0 Missense_Mutation C 17 MAP2 SNP 2 C G 210226218 210226218 WashU GPBAR1 151306 genome.wustl.edu GRCh37 2 219128185 219128185 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000522678.1:c.738C>G p.Leu246= p.L246= ENST00000522678 NM_001077191.1 246 ctC/ctG 0 Missense_Mutation C 32 GPBAR1 SNP 2 C G 218836429 218836429 WashU GALNT2 2590 genome.wustl.edu GRCh37 1 230386265 230386265 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366672.4:c.968A>T p.Lys323Met p.K323M ENST00000366672 NM_004481.3 323 aAg/aTg 0 Missense_Mutation A 3 GALNT2 SNP 1 A T 228452888 228452888 WashU ADSS 159 genome.wustl.edu GRCh37 1 244579368 244579368 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366535.3:c.1083C>G p.Thr361= p.T361= ENST00000366535 NM_001126.3 361 acC/acG 0 Silent G 47 ADSS SNP 1 G C 242645991 242645991 WashU ZNF791 163049 genome.wustl.edu GRCh37 19 12739521 12739522 + frameshift_variant Frame_Shift_Del DEL TC TC - novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 TC TC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000343325.4:c.1178_1179del p.Phe393Ter p.F393* ENST00000343325 NM_153358.2 393 tTC/t 0 Frame_Shift_Del TC 62 ZNF791 DEL 19 TC - 12600522 12600521 WashU ZFPM2 23414 genome.wustl.edu GRCh37 8 106814742 106814749 + frameshift_variant Frame_Shift_Del DEL TTTCCAAA TTTCCAAA - novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 TTTCCAAA TTTCCAAA TTTCCAAA - TTTCCAAA TTTCCAAA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000407775.2:c.2433_2440del p.Ser812Ter p.S812* ENST00000407775 NM_012082.3 811 gTTTCCAAA/g 0 Frame_Shift_Del TTTCCAAA 60 ZFPM2 DEL 8 TTTCCAAA - 106883925 106883918 WashU ANKAR 150709 genome.wustl.edu GRCh37 2 190602523 190602523 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000520309.1:c.3538C>G p.Leu1180Val p.L1180V ENST00000520309 NM_144708.3 1180 Ctt/Gtt 0 Missense_Mutation C 32 ANKAR SNP 2 C G 190310768 190310768 WashU AIFM3 150209 genome.wustl.edu GRCh37 22 21328884 21328884 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399167.2:c.581G>A p.Ser194Asn p.S194N ENST00000399167 NM_144704.2 194 aGc/aAc 0 Missense_Mutation G 34 AIFM3 SNP 22 G A 19658884 19658884 WashU LOC100130883 100130883 genome.wustl.edu GRCh37 3 154156 154156 + IGR SNP G G C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 0 Silent G 33 LOC100130883 SNP 3 C C 129156 129156 WashU HMX1 3166 genome.wustl.edu GRCh37 4 53721 53721 + intron_variant Intron SNP C C T novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000526473.2:c.3+336C>T *1* ENST00000526473 0 Silent C 31 HMX1 SNP 4 C T 43721 43721 WashU PPP1R35 221908 genome.wustl.edu GRCh37 7 100033062 100033062 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000292330.2:c.683C>G p.Pro228Arg p.P228R ENST00000292330 NM_145030.2 228 cCt/cGt 0 Missense_Mutation G 35 C7orf47 SNP 7 G C 99870998 99870998 WashU THBS2 7058 genome.wustl.edu GRCh37 6 169622375 169622376 + frameshift_variant Frame_Shift_Ins INS - - C Unknown TCGA-24-1103-01 TCGA-24-1103-10 - - - C - - Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000366787.3:c.3189dup p.Ser1064ValfsTer48 p.S1064Vfs*48 ENST00000366787 NM_003247.2 1063 -/G 0 Frame_Shift_Ins - 10 THBS2 INS 6 - C 169364301 169364300 WashU NDUFV2 4729 genome.wustl.edu GRCh37 18 9122597 9122597 + synonymous_variant Silent SNP G G A Unknown TCGA-24-1103-01 TCGA-24-1103-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000318388.6:c.387G>A p.Lys129= p.K129= ENST00000318388 NM_021074.4 129 aaG/aaA 0 Silent G 36 NDUFV2 SNP 18 G A 9112597 9112597 WashU ACE2 59272 hgsc.bcm.edu GRCh37 X 15585936 15585936 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000427411.1:c.1910A>T p.Asp637Val p.D637V ENST00000427411 NM_021804.2 637 gAc/gTc 0 Missense_Mutation T 58 ACE2 SNP 23 T A 15495857 15495857 Baylor ALDH1L1 10840 hgsc.bcm.edu GRCh37 3 125872285 125872285 + splice_donor_variant Splice_Site SNP A A T novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000273450.3:c.888+2T>A p.X296_splice ENST00000273450 NM_001270364.1 0 Splice_Site_SNP A 14 ALDH1L1 SNP 3 A T 127354975 127354975 Baylor AMOT 154796 hgsc.bcm.edu GRCh37 X 112021863 112021863 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371959.3:c.3187G>C p.Glu1063Gln p.E1063Q ENST00000371959 NM_001113490.1 1063 Gaa/Caa 0 Missense_Mutation C 30 AMOT SNP 23 C G 111908519 111908519 Baylor AOX1 316 hgsc.bcm.edu GRCh37 2 201507524 201507524 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000374700.2:c.2847G>T p.Lys949Asn p.K949N ENST00000374700 NM_001159.3 949 aaG/aaT 0 Missense_Mutation G 35 AOX1 SNP 2 G T 201215769 201215769 Baylor APBB3 10307 hgsc.bcm.edu GRCh37 5 139941750 139941750 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000354402.5:c.561C>T p.His187= p.H187= ENST00000354402 187 caC/caT 0 Silent G 48 APBB3 SNP 5 G A 139921934 139921934 Baylor BST2 684 hgsc.bcm.edu GRCh37 19 17516374 17516374 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000252593.6:c.11C>T p.Thr4Ile p.T4I ENST00000252593 NM_004335.2 4 aCt/aTt 0 Missense_Mutation G 36 BST2 SNP 19 G A 17377374 17377374 Baylor CCDC84 338657 hgsc.bcm.edu GRCh37 11 118886093 118886093 + synonymous_variant Silent SNP A A T novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000334418.1:c.882A>T p.Ala294= p.A294= ENST00000334418 NM_198489.1 294 gcA/gcT 0 Silent A 7 CCDC84 SNP 11 A T 118391303 118391303 Baylor CSMD3 114788 hgsc.bcm.edu GRCh37 8 113266531 113266531 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000297405.5:c.10061A>C p.Asn3354Thr p.N3354T ENST00000297405 NM_198123.1 3354 aAc/aCc 0 Missense_Mutation T 60 CSMD3 SNP 8 T G 113335707 113335707 Baylor CYP2A7 1549 hgsc.bcm.edu GRCh37 19 41386420 41386420 + missense_variant Missense_Mutation SNP A A C rs56081734 Unknown TCGA-36-1570-01 TCGA-36-1570-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000301146.4:c.457T>G p.Ser153Ala p.S153A ENST00000301146 NM_000764.2 153 Tcg/Gcg 0 Missense_Mutation A 10 CYP2A7 SNP 19 A C 46078260 46078260 Baylor DUOX1 53905 hgsc.bcm.edu GRCh37 15 45434297 45434297 + synonymous_variant Silent SNP T T C novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000321429.4:c.1809T>C p.Cys603= p.C603= ENST00000321429 NM_017434.3 603 tgT/tgC 0 Silent T 60 DUOX1 SNP 15 T C 43221589 43221589 Baylor FAM83B 222584 hgsc.bcm.edu GRCh37 6 54735464 54735464 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000306858.7:c.420G>A p.Arg140= p.R140= ENST00000306858 NM_001010872.2 140 cgG/cgA 0 Silent G 41 FAM83B SNP 6 G A 54843423 54843423 Baylor FBLN7 129804 hgsc.bcm.edu GRCh37 2 112944983 112944983 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000331203.2:c.1220C>T p.Thr407Met p.T407M ENST00000331203 NM_001128165.1 407 aCg/aTg 0 Missense_Mutation C 19 FBLN7 SNP 2 C T 112661454 112661454 Baylor GP2 2813 hgsc.bcm.edu GRCh37 16 20335530 20335530 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381362.4:c.143G>C p.Cys48Ser p.C48S ENST00000381362 NM_001007240.1 48 tGc/tCc 0 Missense_Mutation C 25 GP2 SNP 16 C G 20243031 20243031 Baylor HSPG2 3339 hgsc.bcm.edu GRCh37 1 22213974 22213974 + synonymous_variant Silent SNP G G C novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000374695.3:c.897C>G p.Pro299= p.P299= ENST00000374695 NM_005529.5 299 ccC/ccG 0 Silent G 47 HSPG2 SNP 1 G C 22086561 22086561 Baylor IRAK2 3656 hgsc.bcm.edu GRCh37 3 10283843 10283843 + synonymous_variant Silent SNP G G A novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000256458.4:c.1809G>A p.Arg603= p.R603= ENST00000256458 NM_001570.3 603 agG/agA 0 Silent G 41 IRAK2 SNP 3 G A 10258843 10258843 Baylor MYH1 4619 hgsc.bcm.edu GRCh37 17 10398580 10398580 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000226207.5:c.5224C>A p.Gln1742Lys p.Q1742K ENST00000226207 NM_005963.3 1742 Cag/Aag 0 Missense_Mutation G 47 MYH1 SNP 17 G T 10339305 10339305 Baylor PGAP1 80055 hgsc.bcm.edu GRCh37 2 197708779 197708780 + frameshift_variant Frame_Shift_Ins INS - - TA novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000354764.4:c.2357_2358insTA p.Arg786SerfsTer35 p.R786Sfs*35 ENST00000354764 NM_024989.3 786 aga/agTAa 0 Frame_Shift_Ins - 62 PGAP1 INS 2 - TA 197417025 197417024 Baylor PKD2L1 9033 hgsc.bcm.edu GRCh37 10 102056812 102056812 + synonymous_variant Silent SNP C C T novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000318222.3:c.1110G>A p.Glu370= p.E370= ENST00000318222 NM_016112.2 370 gaG/gaA 0 Silent C 32 PKD2L1 SNP 10 C T 102046802 102046802 Baylor PNPLA5 150379 hgsc.bcm.edu GRCh37 22 44285693 44285694 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000216177.4:c.477dupC p.Glu160ArgfsTer47 p.E160Rfs*47 ENST00000216177 NM_138814.3 159 -/C 0 Frame_Shift_Ins - 31 PNPLA5 INS 22 - G 42617027 42617026 Baylor PSD3 23362 hgsc.bcm.edu GRCh37 8 18413828 18413828 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000327040.8:c.2819A>T p.Lys940Met p.K940M ENST00000327040 NM_015310.3 940 aAg/aTg 0 Missense_Mutation T 56 PSD3 SNP 8 T A 18458108 18458108 Baylor PTPDC1 138639 hgsc.bcm.edu GRCh37 9 96864018 96864018 + synonymous_variant Silent SNP T T A novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000288976.3:c.2178T>A p.Leu726= p.L726= ENST00000288976 NM_001253829.1 726 ctT/ctA 0 Silent T 64 PTPDC1 SNP 9 T A 95903839 95903839 Baylor PTPRR 5801 hgsc.bcm.edu GRCh37 12 71054865 71054865 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000283228.2:c.1621A>G p.Thr541Ala p.T541A ENST00000283228 NM_002849.3 541 Acc/Gcc 0 Missense_Mutation T 59 PTPRR SNP 12 T C 69341132 69341132 Baylor RANBP3L 202151 hgsc.bcm.edu GRCh37 5 36301481 36301481 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000502994.1:c.38C>T p.Pro13Leu p.P13L ENST00000502994 NM_001161429.1 13 cCt/cTt 0 Missense_Mutation G 35 RANBP3L SNP 5 G A 36337238 36337238 Baylor RANBP6 26953 hgsc.bcm.edu GRCh37 9 6013663 6013663 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000259569.5:c.1945G>C p.Ala649Pro p.A649P ENST00000259569 NM_012416.3 649 Gct/Cct 0 Missense_Mutation C 25 RANBP6 SNP 9 C G 6003663 6003663 Baylor RNF10 9921 hgsc.bcm.edu GRCh37 12 121004651 121004651 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000325954.4:c.1909G>A p.Glu637Lys p.E637K ENST00000325954 NM_014868.4 637 Gag/Aag 0 Missense_Mutation G 37 RNF10 SNP 12 G A 119489034 119489034 Baylor RP1 6101 hgsc.bcm.edu GRCh37 8 55541187 55541187 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000220676.1:c.4745G>A p.Cys1582Tyr p.C1582Y ENST00000220676 NM_006269.1 1582 tGc/tAc 0 Missense_Mutation G 46 RP1 SNP 8 G A 55703740 55703740 Baylor SAMD9 54809 hgsc.bcm.edu GRCh37 7 92733255 92733255 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379958.2:c.2156A>C p.Gln719Pro p.Q719P ENST00000379958 NM_017654.3 719 cAa/cCa 0 Missense_Mutation T 63 SAMD9 SNP 7 T G 92571191 92571191 Baylor SLC27A2 11001 hgsc.bcm.edu GRCh37 15 50489742 50489742 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000267842.5:c.524A>G p.Asp175Gly p.D175G ENST00000267842 NM_003645.3 175 gAt/gGt 0 Missense_Mutation A 12 SLC27A2 SNP 15 A G 48277034 48277034 Baylor SMPDL3B 27293 hgsc.bcm.edu GRCh37 1 28271811 28271811 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373894.3:c.130G>A p.Val44Met p.V44M ENST00000373894 NM_014474.2 44 Gtg/Atg 0 Missense_Mutation G 44 SMPDL3B SNP 1 G A 28144398 28144398 Baylor STK31 56164 hgsc.bcm.edu GRCh37 7 23821124 23821124 + synonymous_variant Silent SNP T T C novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000355870.3:c.2052T>C p.His684= p.H684= ENST00000355870 NM_031414.4 684 caT/caC 0 Silent T 51 STK31 SNP 7 T C 23787649 23787649 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577538 7577539 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.742dup p.Arg248ProfsTer16 p.R248Pfs*16 ENST00000269305 NM_001126112.2 248 cgg/cCgg 0 Frame_Shift_Ins - 23 TP53 INS 17 - G 7518264 7518263 Baylor ZNF41 7592 hgsc.bcm.edu GRCh37 X 47308223 47308223 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1570-01 TCGA-36-1570-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000377065.4:c.946G>A p.Val316Ile p.V316I ENST00000377065 NM_153380.2 316 Gta/Ata 0 Missense_Mutation C 17 ZNF41 SNP 23 C T 47193167 47193167 Baylor EYA3 2140 broad.mit.edu GRCh37 1 28315148 28315148 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000373871.3:c.1438C>G p.Leu480Val p.L480V ENST00000373871 480 Ctg/Gtg 0 Missense_Mutation G 33 EYA3 SNP 1 G C 28187735 28187735 Broad SPOCD1 90853 broad.mit.edu GRCh37 1 32279608 32279608 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000360482.2:c.1327G>C p.Asp443His p.D443H ENST00000360482 NM_144569.4 443 Gac/Cac 0 Missense_Mutation C 32 SPOCD1 SNP 1 C G 32052195 32052195 Broad CSMD2 114784 broad.mit.edu GRCh37 1 34128685 34128685 + missense_variant,NMD_transcript_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000241312.4:c.3940T>A p.Phe1314Ile p.F1314I ENST00000241312 1314 Ttc/Atc 0 Missense_Mutation A 3 CSMD2 SNP 1 A T 33901272 33901272 Broad AGO4 192670 broad.mit.edu GRCh37 1 36291649 36291649 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000373210.3:c.748A>G p.Lys250Glu p.K250E ENST00000373210 NM_017629.3 250 Aaa/Gaa 0 Missense_Mutation A 5 EIF2C4 SNP 1 A G 36064236 36064236 Broad DAB1 1600 broad.mit.edu GRCh37 1 57481088 57481088 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000371236.2:c.912C>T p.Gly304= p.G304= ENST00000371236 304 ggC/ggT 0 Silent G 38 DAB1 SNP 1 G A 57253676 57253676 Broad PALMD 54873 broad.mit.edu GRCh37 1 100154414 100154414 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000263174.4:c.598G>C p.Asp200His p.D200H ENST00000263174 NM_017734.4 200 Gat/Cat 0 Missense_Mutation G 33 PALMD SNP 1 G C 99927002 99927002 Broad SLC16A4 9122 broad.mit.edu GRCh37 1 110921585 110921585 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000369779.4:c.920C>G p.Ser307Cys p.S307C ENST00000369779 NM_001201547.1 307 tCt/tGt 0 Missense_Mutation G 33 SLC16A4 SNP 1 G C 110723108 110723108 Broad RHOC 389 broad.mit.edu GRCh37 1 113245721 113245721 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000285735.2:c.177C>A p.Asp59Glu p.D59E ENST00000285735 59 gaC/gaA 0 Missense_Mutation G 48 RHOC SNP 1 G T 113047244 113047244 Broad CCT3 7203 broad.mit.edu GRCh37 1 156288685 156288685 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000295688.3:c.733C>G p.Leu245Val p.L245V ENST00000295688 NM_005998.4 245 Ctg/Gtg 0 Missense_Mutation G 33 CCT3 SNP 1 G C 154555309 154555309 Broad CD1C 911 broad.mit.edu GRCh37 1 158259888 158259888 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000368170.3:c.34C>T p.Leu12Phe p.L12F ENST00000368170 NM_001765.2 12 Ctt/Ttt 0 Missense_Mutation C 32 CD1C SNP 1 C T 156526512 156526512 Broad CD84 8832 broad.mit.edu GRCh37 1 160535332 160535332 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000311224.4:c.250C>T p.Arg84Trp p.R84W ENST00000311224 NM_001184879.1 84 Cgg/Tgg 0 Missense_Mutation G 40 CD84 SNP 1 G A 158801956 158801956 Broad CD244 51744 broad.mit.edu GRCh37 1 160808270 160808270 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000368033.3:c.820G>A p.Val274Ile p.V274I ENST00000368033 274 Gtc/Atc 0 Missense_Mutation C 17 CD244 SNP 1 C T 159074894 159074894 Broad MPZ 4359 broad.mit.edu GRCh37 1 161276240 161276240 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000533357.1:c.463G>A p.Gly155Arg p.G155R ENST00000533357 NM_000530.6 155 Ggg/Agg 0 Missense_Mutation C 23 MPZ SNP 1 C T 159542864 159542864 Broad FCGR2A 2212 broad.mit.edu GRCh37 1 161480679 161480679 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000271450.6:c.675G>A p.Ala225= p.A225= ENST00000271450 NM_021642.3 225 gcG/gcA 0 Silent G 37 FCGR2A SNP 1 G A 159747303 159747303 Broad PFKFB2 5208 broad.mit.edu GRCh37 1 207236504 207236504 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000367080.3:c.325G>T p.Ala109Ser p.A109S ENST00000367080 NM_006212.2 109 Gcg/Tcg 0 Missense_Mutation G 42 PFKFB2 SNP 1 G T 205303127 205303127 Broad USH2A 7399 broad.mit.edu GRCh37 1 216497643 216497643 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000307340.3:c.1195A>T p.Ile399Phe p.I399F ENST00000307340 NM_206933.2 399 Att/Ttt 0 Missense_Mutation T 50 USH2A SNP 1 T A 214564266 214564266 Broad OBSCN 84033 broad.mit.edu GRCh37 1 228404884 228404884 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000570156.2:c.2548G>T p.Gly850Trp p.G850W ENST00000570156 NM_001271223.2 850 Ggg/Tgg 0 Missense_Mutation G 43 OBSCN SNP 1 G T 226471507 226471507 Broad RYR2 6262 broad.mit.edu GRCh37 1 237802398 237802398 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000366574.2:c.7012G>C p.Glu2338Gln p.E2338Q ENST00000366574 NM_001035.2 2338 Gaa/Caa 0 Missense_Mutation G 33 RYR2 SNP 1 G C 235869021 235869021 Broad MRC1L1 4360 broad.mit.edu GRCh37 10 17865237 17865237 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000331429.2:c.226G>A p.Gly76Arg p.G76R ENST00000331429 76 Gga/Aga 0 Missense_Mutation G 43 MRC1 SNP 10 G A 17905243 17905243 Broad DNA2 1763 broad.mit.edu GRCh37 10 70176609 70176609 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000399180.2:c.3229G>T p.Gly1077Cys p.G1077C ENST00000399180 1077 Ggt/Tgt 0 Missense_Mutation C 21 DNA2 SNP 10 C A 69846615 69846615 Broad CDH23 64072 broad.mit.edu GRCh37 10 73558212 73558212 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000398788.3:c.211C>T p.Pro71Ser p.P71S ENST00000398788 NM_001171933.1 71 Cct/Tct 0 Missense_Mutation C 22 CDH23 SNP 10 C T 73228218 73228218 Broad PLAU 5328 broad.mit.edu GRCh37 10 75673483 75673483 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000372764.3:c.647C>G p.Pro216Arg p.P216R ENST00000372764 NM_002658.3 216 cCt/cGt 0 Missense_Mutation C 24 PLAU SNP 10 C G 75343489 75343489 Broad DLG5 9231 broad.mit.edu GRCh37 10 79569428 79569428 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000372391.2:c.4524C>A p.Ser1508= p.S1508= ENST00000372391 NM_004747.3 1508 tcC/tcA 0 Silent G 43 DLG5 SNP 10 G T 79239434 79239434 Broad CYP2C19 1557 broad.mit.edu GRCh37 10 96602603 96602603 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000371321.3:c.971A>G p.Gln324Arg p.Q324R ENST00000371321 NM_000769.1 324 cAg/cGg 0 Missense_Mutation A 7 CYP2C19 SNP 10 A G 96592593 96592593 Broad SLK 9748 broad.mit.edu GRCh37 10 105768064 105768064 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369755.3:c.2734G>T p.Glu912Ter p.E912* ENST00000369755 NM_014720.2 912 Gag/Tag 0 Nonsense_Mutation G 33 SLK SNP 10 G T 105758054 105758054 Broad CUZD1 50624 broad.mit.edu GRCh37 10 124598699 124598699 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000368904.1:c.282C>T p.Asp94= p.D94= ENST00000368904 94 gaC/gaT 0 Silent G 40 CUZD1 SNP 10 G A 124588689 124588689 Broad ANO5 203859 broad.mit.edu GRCh37 11 22294385 22294385 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000324559.8:c.2085T>A p.Leu695= p.L695= ENST00000324559 NM_001142649.1 695 ctT/ctA 0 Silent T 62 ANO5 SNP 11 T A 22250961 22250961 Broad API5 8539 broad.mit.edu GRCh37 11 43342382 43342382 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000531273.1:c.243A>C p.Gln81His p.Q81H ENST00000531273 81 caA/caC 0 Missense_Mutation A 3 API5 SNP 11 A C 43298958 43298958 Broad B3GAT3 26229 broad.mit.edu GRCh37 11 62384507 62384507 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000265471.5:c.570C>T p.Val190= p.V190= ENST00000265471 NM_012200.3 190 gtC/gtT 0 Silent G 33 B3GAT3 SNP 11 G A 62141083 62141083 Broad ALG8 79053 broad.mit.edu GRCh37 11 77832111 77832111 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000299626.5:c.478C>T p.His160Tyr p.H160Y ENST00000299626 NM_024079.4 160 Cat/Tat 0 Missense_Mutation G 39 ALG8 SNP 11 G A 77509759 77509759 Broad MED17 9440 broad.mit.edu GRCh37 11 93527011 93527011 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000251871.3:c.755A>G p.Glu252Gly p.E252G ENST00000251871 NM_004268.4 252 gAg/gGg 0 Missense_Mutation A 11 MED17 SNP 11 A G 93166659 93166659 Broad TRIM29 23650 broad.mit.edu GRCh37 11 119996570 119996570 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000341846.5:c.1162T>A p.Ser388Thr p.S388T ENST00000341846 NM_012101.3 388 Tct/Act 0 Missense_Mutation A 11 TRIM29 SNP 11 A T 119501780 119501780 Broad ST14 6768 broad.mit.edu GRCh37 11 130060474 130060474 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000278742.5:c.760T>G p.Ser254Ala p.S254A ENST00000278742 NM_021978.3 254 Tca/Gca 0 Missense_Mutation T 54 ST14 SNP 11 T G 129565684 129565684 Broad LRTM2 654429 broad.mit.edu GRCh37 12 1943779 1943779 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000543818.1:c.1005C>T p.Tyr335= p.Y335= ENST00000543818 NM_001163926.1 335 taC/taT 0 Silent C 19 LRTM2 SNP 12 C T 1814040 1814040 Broad VWF 7450 broad.mit.edu GRCh37 12 6101019 6101019 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000261405.5:c.6764C>G p.Thr2255Ser p.T2255S ENST00000261405 NM_000552.3 2255 aCt/aGt 0 Missense_Mutation G 36 VWF SNP 12 G C 5971280 5971280 Broad PHB2 11331 broad.mit.edu GRCh37 12 7076351 7076351 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000535923.1:c.772C>G p.Gln258Glu p.Q258E ENST00000535923 NM_001144831.1 258 Cag/Gag 0 Missense_Mutation G 47 PHB2 SNP 12 G C 6946612 6946612 Broad CD163L1 283316 broad.mit.edu GRCh37 12 7531654 7531654 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000313599.3:c.2291C>A p.Ala764Asp p.A764D ENST00000313599 764 gCc/gAc 0 Missense_Mutation G 42 CD163L1 SNP 12 G T 7422921 7422921 Broad DIP2B 57609 broad.mit.edu GRCh37 12 51069111 51069111 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000301180.5:c.797-1G>C p.X266_splice ENST00000301180 NM_173602.2 0 Splice_Site_SNP G 35 DIP2B SNP 12 G C 49355378 49355378 Broad ITGB7 3695 broad.mit.edu GRCh37 12 53591298 53591298 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000267082.5:c.553G>A p.Val185Ile p.V185I ENST00000267082 NM_000889.1 185 Gtc/Atc 0 Missense_Mutation C 20 ITGB7 SNP 12 C T 51877565 51877565 Broad MARS 4141 broad.mit.edu GRCh37 12 57892256 57892256 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000262027.5:c.941A>G p.Tyr314Cys p.Y314C ENST00000262027 NM_004990.3 314 tAt/tGt 0 Missense_Mutation A 16 MARS SNP 12 A G 56178523 56178523 Broad KITLG 4254 broad.mit.edu GRCh37 12 88912638 88912638 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000228280.5:c.199C>T p.His67Tyr p.H67Y ENST00000228280 NM_000899.4 67 Cat/Tat 0 Missense_Mutation G 45 KITLG SNP 12 G A 87436769 87436769 Broad APAF1 317 broad.mit.edu GRCh37 12 99043373 99043373 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000551964.1:c.437A>T p.Glu146Val p.E146V ENST00000551964 NM_181861.1 146 gAa/gTa 0 Missense_Mutation A 9 APAF1 SNP 12 A T 97567504 97567504 Broad CRY1 1407 broad.mit.edu GRCh37 12 107395058 107395058 + missense_variant,splice_region_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000008527.5:c.684A>T p.Lys228Asn p.K228N ENST00000008527 NM_004075.4 228 aaA/aaT 0 Missense_Mutation T 56 CRY1 SNP 12 T A 105919188 105919188 Broad CMKLR1 1240 broad.mit.edu GRCh37 12 108686410 108686410 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000312143.7:c.330C>G p.Ala110= p.A110= ENST00000312143 NM_001142344.1 110 gcC/gcG 0 Silent G 47 CMKLR1 SNP 12 G C 107210540 107210540 Broad MED13L 23389 broad.mit.edu GRCh37 12 116421066 116421066 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000281928.3:c.4811C>T p.Ser1604Phe p.S1604F ENST00000281928 NM_015335.4 1604 tCt/tTt 0 Missense_Mutation G 33 MED13L SNP 12 G A 114905449 114905449 Broad EFNB2 1948 broad.mit.edu GRCh37 13 107145608 107145608 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000245323.4:c.782C>T p.Pro261Leu p.P261L ENST00000245323 NM_004093.3 261 cCg/cTg 0 Missense_Mutation G 39 EFNB2 SNP 13 G A 105943609 105943609 Broad CEBPE 1053 broad.mit.edu GRCh37 14 23586742 23586742 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000206513.5:c.800T>C p.Ile267Thr p.I267T ENST00000206513 NM_001805.3 267 aTt/aCt 0 Missense_Mutation A 4 CEBPE SNP 14 A G 22656582 22656582 Broad TRIP11 9321 broad.mit.edu GRCh37 14 92472704 92472704 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 T G T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000267622.4:c.1616A>C p.Glu539Ala p.E539A ENST00000267622 NM_004239.3 539 gAa/gCa 0 Missense_Mutation T 62 TRIP11 SNP 14 T G 91542457 91542457 Broad TRIP11 9321 broad.mit.edu GRCh37 14 92480575 92480575 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000267622.4:c.1170A>G p.Leu390= p.L390= ENST00000267622 NM_004239.3 390 ctA/ctG 0 Silent T 57 TRIP11 SNP 14 T C 91550328 91550328 Broad DYNC1H1 1778 broad.mit.edu GRCh37 14 102504833 102504833 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000360184.4:c.10945C>G p.Leu3649Val p.L3649V ENST00000360184 NM_001376.4 3649 Ctg/Gtg 0 Missense_Mutation C 28 DYNC1H1 SNP 14 C G 101574586 101574586 Broad DUOX1 53905 broad.mit.edu GRCh37 15 45448043 45448043 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000321429.4:c.3618T>A p.Tyr1206Ter p.Y1206* ENST00000321429 NM_017434.3 1206 taT/taA 0 Nonsense_Mutation T 51 DUOX1 SNP 15 T A 43235335 43235335 Broad FANCI 55215 broad.mit.edu GRCh37 15 89847144 89847144 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000310775.7:c.3056G>A p.Arg1019Gln p.R1019Q ENST00000310775 NM_001113378.1 1019 cGg/cAg 0 Missense_Mutation G 39 FANCI SNP 15 G A 87648148 87648148 Broad C15orf32 145858 broad.mit.edu GRCh37 15 93015580 93015580 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000333334.2:c.202C>T p.His68Tyr p.H68Y ENST00000333334 NM_153040.2 68 Cac/Tac 0 Missense_Mutation C 25 C15orf32 SNP 15 C T 90816584 90816584 Broad GEMIN4 50628 broad.mit.edu GRCh37 17 650428 650428 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000319004.5:c.855C>T p.His285= p.H285= ENST00000319004 NM_015721.2 285 caC/caT 0 Silent G 44 GEMIN4 SNP 17 G A 597178 597178 Broad TP53 7157 broad.mit.edu GRCh37 17 7578369 7578369 + splice_donor_variant Splice_Site SNP A A C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.559+2T>G p.X187_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP A 6 TP53 SNP 17 A C 7519094 7519094 Broad ALDH3A2 224 broad.mit.edu GRCh37 17 19575148 19575148 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000339618.4:c.1322C>T p.Pro441Leu p.P441L ENST00000339618 NM_001031806.1 441 cCt/cTt 0 Missense_Mutation C 24 ALDH3A2 SNP 17 C T 19515740 19515740 Broad EFTUD2 9343 broad.mit.edu GRCh37 17 42937325 42937325 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000426333.2:c.1808T>A p.Met603Lys p.M603K ENST00000426333 NM_001142605.1 603 aTg/aAg 0 Missense_Mutation A 8 EFTUD2 SNP 17 A T 40292851 40292851 Broad HOXB4 3214 broad.mit.edu GRCh37 17 46655279 46655279 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000332503.5:c.403G>A p.Ala135Thr p.A135T ENST00000332503 NM_024015.4 135 Gcg/Acg 0 Missense_Mutation C 27 HOXB4 SNP 17 C T 44010278 44010278 Broad MYOM1 8736 broad.mit.edu GRCh37 18 3215130 3215130 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000356443.4:c.92G>T p.Arg31Leu p.R31L ENST00000356443 NM_019856.1 31 cGg/cTg 0 Missense_Mutation C 23 MYOM1 SNP 18 C A 3205130 3205130 Broad RBBP8 5932 broad.mit.edu GRCh37 18 20577641 20577641 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000399722.2:c.2087G>A p.Ser696Asn p.S696N ENST00000399722 NM_203291.1 696 aGt/aAt 0 Missense_Mutation G 36 RBBP8 SNP 18 G A 18831639 18831639 Broad CLPP 8192 broad.mit.edu GRCh37 19 6364626 6364626 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000245816.4:c.531C>T p.Ile177= p.I177= ENST00000245816 NM_006012.2 177 atC/atT 0 Silent C 30 CLPP SNP 19 C T 6315626 6315626 Broad CDKN2D 1032 broad.mit.edu GRCh37 19 10677786 10677787 + missense_variant Missense_Mutation DNP CC CC AG novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 CC AG CC CC Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000393599.2:c.448_449delinsCT p.Gly150Leu p.G150L ENST00000393599 NM_001800.3 150 GGg/CTg 0 Missense_Mutation CC 22 CDKN2D DNP 19 CC AG 10538787 10538786 Broad ZNF823 55552 broad.mit.edu GRCh37 19 11832769 11832769 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000341191.6:c.1580A>G p.Tyr527Cys p.Y527C ENST00000341191 NM_001080493.2 527 tAt/tGt 0 Missense_Mutation T 49 ZNF823 SNP 19 T C 11693769 11693769 Broad RHPN2 85415 broad.mit.edu GRCh37 19 33482730 33482730 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000254260.3:c.1643C>T p.Ser548Leu p.S548L ENST00000254260 NM_033103.4 548 tCg/tTg 0 Missense_Mutation G 37 RHPN2 SNP 19 G A 38174570 38174570 Broad ZNF222 7673 broad.mit.edu GRCh37 19 44536133 44536133 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000391960.3:c.426G>T p.Gln142His p.Q142H ENST00000391960 NM_001129996.1 142 caG/caT 0 Missense_Mutation G 33 ZNF222 SNP 19 G T 49227973 49227973 Broad IL4I1 259307 broad.mit.edu GRCh37 19 50398386 50398386 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000595948.1:c.370C>G p.Arg124Gly p.R124G ENST00000595948 NM_001258018.1 124 Cgg/Ggg 0 Missense_Mutation G 39 IL4I1 SNP 19 G C 55090198 55090198 Broad CNOT3 4849 broad.mit.edu GRCh37 19 54652061 54652061 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000406403.1:c.1073G>T p.Ser358Ile p.S358I ENST00000406403 358 aGt/aTt 0 Missense_Mutation G 36 CNOT3 SNP 19 G T 59343873 59343873 Broad CNOT3 4849 broad.mit.edu GRCh37 19 54657466 54657466 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000406403.1:c.2052G>C p.Gln684His p.Q684H ENST00000406403 684 caG/caC 0 Missense_Mutation G 36 CNOT3 SNP 19 G C 59349278 59349278 Broad TNNT1 7138 broad.mit.edu GRCh37 19 55648496 55648496 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000588981.1:c.586G>C p.Asp196His p.D196H ENST00000588981 NM_003283.4 196 Gac/Cac 0 Missense_Mutation C 29 TNNT1 SNP 19 C G 60340308 60340308 Broad ZNF586 54807 broad.mit.edu GRCh37 19 58290195 58290195 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000396154.2:c.240A>G p.Gly80= p.G80= ENST00000396154 NM_017652.3 80 ggA/ggG 0 Silent A 11 ZNF586 SNP 19 A G 62982007 62982007 Broad LPIN1 23175 broad.mit.edu GRCh37 2 11943134 11943134 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000449576.2:c.2135C>A p.Thr712Asn p.T712N ENST00000449576 NM_001261428.1 712 aCt/aAt 0 Missense_Mutation C 20 LPIN1 SNP 2 C A 11860585 11860585 Broad SLC5A6 8884 broad.mit.edu GRCh37 2 27426127 27426127 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000310574.3:c.1181G>C p.Arg394Pro p.R394P ENST00000310574 NM_021095.2 394 cGg/cCg 0 Missense_Mutation C 23 SLC5A6 SNP 2 C G 27279631 27279631 Broad DYSF 8291 broad.mit.edu GRCh37 2 71886113 71886113 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000410020.3:c.4861A>G p.Ile1621Val p.I1621V ENST00000410020 NM_001130987.1 1621 Atc/Gtc 0 Missense_Mutation A 16 DYSF SNP 2 A G 71739621 71739621 Broad EIF5B 9669 broad.mit.edu GRCh37 2 100007118 100007118 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000289371.6:c.2698C>A p.Gln900Lys p.Q900K ENST00000289371 NM_015904.3 900 Cag/Aag 0 Missense_Mutation C 29 EIF5B SNP 2 C A 99373550 99373550 Broad NEB 4703 broad.mit.edu GRCh37 2 152362072 152362072 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000397345.3:c.23662G>C p.Glu7888Gln p.E7888Q ENST00000397345 NM_001164508.1 7888 Gaa/Caa 0 Missense_Mutation C 30 NEB SNP 2 C G 152070318 152070318 Broad KIAA1715 80856 broad.mit.edu GRCh37 2 176804339 176804339 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000272748.4:c.753A>G p.Arg251= p.R251= ENST00000272748 NM_030650.1 251 cgA/cgG 0 Silent T 54 KIAA1715 SNP 2 T C 176512585 176512585 Broad PARD3B 117583 broad.mit.edu GRCh37 2 206480345 206480345 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000358768.2:c.3240C>G p.His1080Gln p.H1080Q ENST00000358768 1080 caC/caG 0 Missense_Mutation C 20 PARD3B SNP 2 C G 206188590 206188590 Broad ADAM23 8745 broad.mit.edu GRCh37 2 207437914 207437914 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000264377.3:c.1732G>A p.Gly578Ser p.G578S ENST00000264377 NM_003812.3 578 Ggt/Agt 0 Missense_Mutation G 47 ADAM23 SNP 2 G A 207146159 207146159 Broad PIKFYVE 200576 broad.mit.edu GRCh37 2 209218727 209218727 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264380.4:c.5950C>T p.Arg1984Ter p.R1984* ENST00000264380 NM_015040.3 1984 Cga/Tga 0 Nonsense_Mutation C 31 PIKFYVE SNP 2 C T 208926972 208926972 Broad FARSB 10056 broad.mit.edu GRCh37 2 223464758 223464758 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000281828.6:c.1507A>C p.Asn503His p.N503H ENST00000281828 NM_005687.3 503 Aac/Cac 0 Missense_Mutation T 63 FARSB SNP 2 T G 223173002 223173002 Broad NCL 4691 broad.mit.edu GRCh37 2 232325561 232325561 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000322723.4:c.630T>A p.Ala210= p.A210= ENST00000322723 NM_005381.2 210 gcT/gcA 0 Silent A 15 NCL SNP 2 A T 232033805 232033805 Broad DEFB118 117285 broad.mit.edu GRCh37 20 29960873 29960873 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000253381.2:c.272C>A p.Thr91Lys p.T91K ENST00000253381 NM_054112.2 91 aCa/aAa 0 Missense_Mutation C 17 DEFB118 SNP 20 C A 29424534 29424534 Broad TTLL9 164395 broad.mit.edu GRCh37 20 30497691 30497691 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000375938.4:c.470G>C p.Arg157Pro p.R157P ENST00000375938 157 cGc/cCc 0 Missense_Mutation G 38 TTLL9 SNP 20 G C 29961352 29961352 Broad GSS 2937 broad.mit.edu GRCh37 20 33530370 33530370 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000216951.2:c.412C>G p.Pro138Ala p.P138A ENST00000216951 NM_000178.2 138 Cca/Gca 0 Missense_Mutation G 43 GSS SNP 20 G C 32994031 32994031 Broad ADNP 23394 broad.mit.edu GRCh37 20 49518641 49518641 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000396029.3:c.114T>C p.Phe38= p.F38= ENST00000396029 NM_015339.2 38 ttT/ttC 0 Silent A 13 ADNP SNP 20 A G 48952048 48952048 Broad CYP24A1 1591 broad.mit.edu GRCh37 20 52782304 52782304 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000216862.3:c.709A>T p.Asn237Tyr p.N237Y ENST00000216862 NM_000782.4 237 Aac/Tac 0 Missense_Mutation T 62 CYP24A1 SNP 20 T A 52215711 52215711 Broad TAF4 6874 broad.mit.edu GRCh37 20 60589749 60589749 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000252996.4:c.1375C>G p.Arg459Gly p.R459G ENST00000252996 NM_003185.3 459 Cga/Gga 0 Missense_Mutation G 39 TAF4 SNP 20 G C 60023144 60023144 Broad ZNF385D 79750 broad.mit.edu GRCh37 3 21462839 21462839 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000281523.2:c.1055G>T p.Ser352Ile p.S352I ENST00000281523 NM_024697.2 352 aGt/aTt 0 Missense_Mutation C 20 ZNF385D SNP 3 C A 21437843 21437843 Broad TOP2B 7155 broad.mit.edu GRCh37 3 25665148 25665148 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000435706.2:c.2570A>G p.Tyr857Cys p.Y857C ENST00000435706 NM_001068.3 857 tAt/tGt 0 Missense_Mutation T 49 TOP2B SNP 3 T C 25640152 25640152 Broad SETD2 29072 broad.mit.edu GRCh37 3 47125871 47125871 + missense_variant,splice_region_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000409792.3:c.5399T>A p.Ile1800Asn p.I1800N ENST00000409792 NM_014159.6 1800 aTt/aAt 0 Missense_Mutation A 4 SETD2 SNP 3 A T 47100875 47100875 Broad ZNF80 7634 broad.mit.edu GRCh37 3 113955646 113955646 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000482457.2:c.276C>T p.Phe92= p.F92= ENST00000482457 NM_007136.3 92 ttC/ttT 0 Silent G 37 ZNF80 SNP 3 G A 115438336 115438336 Broad ZBTB20 26137 broad.mit.edu GRCh37 3 114069892 114069892 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000474710.1:c.1033G>C p.Val345Leu p.V345L ENST00000474710 NM_001164342.1 345 Gtg/Ctg 0 Missense_Mutation C 18 ZBTB20 SNP 3 C G 115552582 115552582 Broad GOLGB1 2804 broad.mit.edu GRCh37 3 121410506 121410506 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000393667.3:c.7705G>T p.Glu2569Ter p.E2569* ENST00000393667 NM_001256486.1 2569 Gag/Tag 0 Nonsense_Mutation C 30 GOLGB1 SNP 3 C A 122893196 122893196 Broad ACAD9 28976 broad.mit.edu GRCh37 3 128618296 128618296 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000308982.7:c.800G>T p.Gly267Val p.G267V ENST00000308982 NM_014049.4 267 gGc/gTc 0 Missense_Mutation G 42 ACAD9 SNP 3 G T 130100986 130100986 Broad PLSCR1 5359 broad.mit.edu GRCh37 3 146233888 146233888 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000342435.4:c.901G>C p.Asp301His p.D301H ENST00000342435 NM_021105.2 301 Gac/Cac 0 Missense_Mutation C 30 PLSCR1 SNP 3 C G 147716578 147716578 Broad CLNK 116449 broad.mit.edu GRCh37 4 10573381 10573381 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000226951.6:c.134A>G p.Lys45Arg p.K45R ENST00000226951 NM_052964.2 45 aAg/aGg 0 Missense_Mutation T 56 CLNK SNP 4 T C 10182479 10182479 Broad HERC5 51191 broad.mit.edu GRCh37 4 89415416 89415416 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000264350.3:c.2378T>G p.Phe793Cys p.F793C ENST00000264350 NM_016323.3 793 tTt/tGt 0 Missense_Mutation T 64 HERC5 SNP 4 T G 89634439 89634439 Broad DDX60 55601 broad.mit.edu GRCh37 4 169206560 169206560 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000393743.3:c.1429T>C p.Leu477= p.L477= ENST00000393743 NM_017631.5 477 Ttg/Ctg 0 Silent A 1 DDX60 SNP 4 A G 169443135 169443135 Broad SLC45A2 51151 broad.mit.edu GRCh37 5 33964006 33964006 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000296589.4:c.678C>T p.Leu226= p.L226= ENST00000296589 NM_016180.3 226 ctC/ctT 0 Silent G 45 SLC45A2 SNP 5 G A 33999763 33999763 Broad GPR98 84059 broad.mit.edu GRCh37 5 89990498 89990498 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000405460.2:c.7925A>T p.Glu2642Val p.E2642V ENST00000405460 NM_032119.3 2642 gAg/gTg 0 Missense_Mutation A 11 GPR98 SNP 5 A T 90026254 90026254 Broad LNPEP 4012 broad.mit.edu GRCh37 5 96333740 96333740 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000231368.5:c.1544G>T p.Arg515Leu p.R515L ENST00000231368 NM_005575.2 515 cGa/cTa 0 Missense_Mutation G 37 LNPEP SNP 5 G T 96359496 96359496 Broad SLCO6A1 133482 broad.mit.edu GRCh37 5 101755550 101755550 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000506729.1:c.1452G>A p.Gly484= p.G484= ENST00000506729 484 ggG/ggA 0 Silent C 30 SLCO6A1 SNP 5 C T 101783449 101783449 Broad ITK 3702 broad.mit.edu GRCh37 5 156668715 156668715 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000422843.3:c.1045G>T p.Ala349Ser p.A349S ENST00000422843 NM_005546.3 349 Gca/Tca 0 Missense_Mutation G 34 ITK SNP 5 G T 156601293 156601293 Broad TENM2 57451 broad.mit.edu GRCh37 5 167653236 167653236 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000518659.1:c.5252C>A p.Ser1751Tyr p.S1751Y ENST00000518659 NM_001122679.1 1751 tCt/tAt 0 Missense_Mutation C 32 ODZ2 SNP 5 C A 167585814 167585814 Broad DDX41 51428 broad.mit.edu GRCh37 5 176943129 176943129 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000507955.1:c.364G>A p.Glu122Lys p.E122K ENST00000507955 NM_016222.2 122 Gag/Aag 0 Missense_Mutation C 31 DDX41 SNP 5 C T 176875735 176875735 Broad RMND5B 64777 broad.mit.edu GRCh37 5 177571013 177571013 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000515098.1:c.598C>G p.His200Asp p.H200D ENST00000515098 NM_001288794.1 200 Cac/Gac 0 Missense_Mutation C 25 RMND5B SNP 5 C G 177503619 177503619 Broad CLK4 57396 broad.mit.edu GRCh37 5 178050414 178050414 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000316308.4:c.4C>T p.Arg2Trp p.R2W ENST00000316308 NM_020666.2 2 Cgg/Tgg 0 Missense_Mutation G 38 CLK4 SNP 5 G A 177983020 177983020 Broad ZNF354B 117608 broad.mit.edu GRCh37 5 178311066 178311066 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000322434.3:c.1613T>A p.Ile538Lys p.I538K ENST00000322434 NM_058230.2 538 aTa/aAa 0 Missense_Mutation T 49 ZNF354B SNP 5 T A 178243672 178243672 Broad DDX39B 7919 broad.mit.edu GRCh37 6 31508234 31508234 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000396172.1:c.76G>A p.Gly26Arg p.G26R ENST00000396172 NM_004640.6 26 Ggg/Agg 0 Missense_Mutation C 21 BAT1 SNP 6 C T 31616213 31616213 Broad TBX18 9096 broad.mit.edu GRCh37 6 85447043 85447043 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000369663.5:c.1184G>T p.Cys395Phe p.C395F ENST00000369663 NM_001080508.2 395 tGc/tTc 0 Missense_Mutation C 25 TBX18 SNP 6 C A 85503762 85503762 Broad EPHA7 2045 broad.mit.edu GRCh37 6 93982019 93982019 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369303.4:c.1446G>T p.Glu482Asp p.E482D ENST00000369303 NM_004440.3 482 gaG/gaT 0 Missense_Mutation C 32 EPHA7 SNP 6 C A 94038740 94038740 Broad MCHR2 84539 broad.mit.edu GRCh37 6 100368898 100368898 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000281806.2:c.941A>G p.Gln314Arg p.Q314R ENST00000281806 NM_001040179.1 314 cAg/cGg 0 Missense_Mutation T 55 MCHR2 SNP 6 T C 100475619 100475619 Broad LAMA4 3910 broad.mit.edu GRCh37 6 112506504 112506504 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000230538.7:c.1012C>T p.Gln338Ter p.Q338* ENST00000230538 NM_001105206.2 338 Caa/Taa 0 Nonsense_Mutation G 48 LAMA4 SNP 6 G A 112613197 112613197 Broad SP4 6671 broad.mit.edu GRCh37 7 21469947 21469947 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000222584.3:c.1164T>A p.Asp388Glu p.D388E ENST00000222584 NM_003112.3 388 gaT/gaA 0 Missense_Mutation T 50 SP4 SNP 7 T A 21436472 21436472 Broad HERPUD2 64224 broad.mit.edu GRCh37 7 35674922 35674922 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000396081.1:c.764A>G p.Glu255Gly p.E255G ENST00000396081 NM_022373.4 255 gAg/gGg 0 Missense_Mutation T 54 HERPUD2 SNP 7 T C 35641447 35641447 Broad PKD1L1 168507 broad.mit.edu GRCh37 7 47851485 47851485 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000289672.2:c.7511C>A p.Ser2504Ter p.S2504* ENST00000289672 NM_138295.3 2504 tCa/tAa 0 Nonsense_Mutation G 45 PKD1L1 SNP 7 G T 47818010 47818010 Broad SEMA3E 9723 broad.mit.edu GRCh37 7 83119492 83119492 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000307792.3:c.214G>C p.Val72Leu p.V72L ENST00000307792 NM_012431.2 72 Gtg/Ctg 0 Missense_Mutation C 19 SEMA3E SNP 7 C G 82957428 82957428 Broad ZNF804B 219578 broad.mit.edu GRCh37 7 88964351 88964351 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000333190.4:c.2055C>A p.Thr685= p.T685= ENST00000333190 NM_181646.2 685 acC/acA 0 Silent C 21 ZNF804B SNP 7 C A 88802287 88802287 Broad MUC17 140453 broad.mit.edu GRCh37 7 100681639 100681639 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000306151.4:c.6942T>A p.Thr2314= p.T2314= ENST00000306151 NM_001040105.1 2314 acT/acA 0 Silent T 55 MUC17 SNP 7 T A 100468359 100468359 Broad MOGAT3 346606 broad.mit.edu GRCh37 7 100844094 100844094 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000223114.4:c.42A>C p.Lys14Asn p.K14N ENST00000223114 NM_178176.2 14 aaA/aaC 0 Missense_Mutation T 64 MOGAT3 SNP 7 T G 100630814 100630814 Broad CUX1 1523 broad.mit.edu GRCh37 7 101870679 101870679 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000360264.3:c.3196C>A p.Pro1066Thr p.P1066T ENST00000360264 NM_001202543.1 1066 Cct/Act 0 Missense_Mutation C 22 CUX1 SNP 7 C A 101657399 101657399 Broad CCDC136 64753 broad.mit.edu GRCh37 7 128452773 128452773 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000297788.4:c.2553A>T p.Glu851Asp p.E851D ENST00000297788 NM_022742.4 851 gaA/gaT 0 Missense_Mutation A 1 CCDC136 SNP 7 A T 128240009 128240009 Broad CNTNAP2 26047 broad.mit.edu GRCh37 7 147600767 147600767 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000361727.3:c.2209A>T p.Thr737Ser p.T737S ENST00000361727 NM_014141.5 737 Aca/Tca 0 Missense_Mutation A 6 CNTNAP2 SNP 7 A T 147231700 147231700 Broad PDIA4 9601 broad.mit.edu GRCh37 7 148716240 148716240 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000286091.4:c.319A>G p.Ile107Val p.I107V ENST00000286091 NM_004911.4 107 Ata/Gta 0 Missense_Mutation T 51 PDIA4 SNP 7 T C 148347173 148347173 Broad CHPF2 54480 broad.mit.edu GRCh37 7 150931256 150931256 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000035307.2:c.159G>C p.Gln53His p.Q53H ENST00000035307 NM_019015.1 53 caG/caC 0 Missense_Mutation G 33 CHPF2 SNP 7 G C 150562189 150562189 Broad LZTS1 11178 broad.mit.edu GRCh37 8 20110429 20110429 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000381569.1:c.1013T>A p.Leu338His p.L338H ENST00000381569 338 cTt/cAt 0 Missense_Mutation A 3 LZTS1 SNP 8 A T 20154709 20154709 Broad MPDZ 8777 broad.mit.edu GRCh37 9 13224467 13224467 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000541718.1:c.299G>T p.Gly100Val p.G100V ENST00000541718 NM_001261407.1 100 gGg/gTg 0 Missense_Mutation C 22 MPDZ SNP 9 C A 13214467 13214467 Broad SPATA31A3 727830 broad.mit.edu GRCh37 9 40704225 40704225 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000356699.5:c.1882G>A p.Asp628Asn p.D628N ENST00000356699 NM_001083124.1 628 Gac/Aac 0 Missense_Mutation G 41 FAM75A3 SNP 9 G A 40694225 40694225 Broad SH2D3C 10044 broad.mit.edu GRCh37 9 130511535 130511535 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000314830.8:c.1094G>T p.Gly365Val p.G365V ENST00000314830 NM_170600.2 365 gGg/gTg 0 Missense_Mutation C 22 SH2D3C SNP 9 C A 129551356 129551356 Broad FUBP3 8939 broad.mit.edu GRCh37 9 133506147 133506147 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000319725.9:c.1250C>A p.Ala417Asp p.A417D ENST00000319725 NM_003934.1 417 gCc/gAc 0 Missense_Mutation C 26 FUBP3 SNP 9 C A 132495968 132495968 Broad GRPR 2925 broad.mit.edu GRCh37 X 16168743 16168743 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000380289.2:c.729T>A p.Asn243Lys p.N243K ENST00000380289 NM_005314.2 243 aaT/aaA 0 Missense_Mutation T 50 GRPR SNP 23 T A 16078664 16078664 Broad GPR173 54328 broad.mit.edu GRCh37 X 53106025 53106025 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000332582.4:c.222C>T p.Val74= p.V74= ENST00000332582 NM_018969.5 74 gtC/gtT 0 Silent C 32 GPR173 SNP 23 C T 53122750 53122750 Broad HTR2C 3358 broad.mit.edu GRCh37 X 114141164 114141164 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000276198.1:c.563C>T p.Pro188Leu p.P188L ENST00000276198 NM_000868.2 188 cCt/cTt 0 Missense_Mutation C 24 HTR2C SNP 23 C T 114047420 114047420 Broad GLUD2 2747 broad.mit.edu GRCh37 X 120182417 120182417 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000328078.1:c.879A>G p.Leu293= p.L293= ENST00000328078 NM_012084.3 293 ttA/ttG 0 Silent A 15 GLUD2 SNP 23 A G 120010098 120010098 Broad GRIA3 2892 broad.mit.edu GRCh37 X 122532558 122532558 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000264357.5:c.984A>G p.Arg328= p.R328= ENST00000264357 NM_000828.4 328 cgA/cgG 0 Silent A 11 GRIA3 SNP 23 A G 122360239 122360239 Broad ZIC3 7547 broad.mit.edu GRCh37 X 136651155 136651155 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown x x x ENST00000287538.5:c.1155C>T p.Asp385= p.D385= ENST00000287538 NM_003413.3 385 gaC/gaT 0 Silent C 17 ZIC3 SNP 23 C T 136478821 136478821 Broad NBEA 26960 broad.mit.edu GRCh37 13 35738551 35738567 + frameshift_variant Frame_Shift_Del DEL CATAACACAATTCACCT CATAACACAATTCACCT - novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000400445.3:c.4141_4157del p.Asn1381PhefsTer28 p.N1381Ffs*28 ENST00000400445 NM_015678.4 1380 CATAACACAATTCACCTc/c 0 Frame_Shift_Del CATAACACAATTCACCT 17 NBEA DEL 13 - CATAACACAATTCACCT 34636567 34636551 Broad PTPRG 5793 broad.mit.edu GRCh37 3 61548036 61548057 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL GTGCTTCCCCGGTGAGTGCCGG GTGCTTCCCCGGTGAGTGCCGG - novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000474889.1:c.75_85+11del p.X25_splice ENST00000474889 NM_002841.3 25 0 Splice_Site_Del GTGCTTCCCCGGTGAGTGCCGG 48 PTPRG DEL 3 - GTGCTTCCCCGGTGAGTGCCGG 61523097 61523076 Broad PHKA2 5256 broad.mit.edu GRCh37 X 18969308 18969327 + frameshift_variant Frame_Shift_Del DEL GTGCCACAGGTGGCGGTGTT GTGCCACAGGTGGCGGTGTT - novel Unknown TCGA-13-0923-01 TCGA-13-0923-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000379942.4:c.349_368del p.Asn117GlyfsTer38 p.N117Gfs*38 ENST00000379942 NM_000292.2 117 AACACCGCCACCTGTGGCACg/g 0 Frame_Shift_Del GTGCCACAGGTGGCGGTGTT 40 PHKA2 DEL 23 - GTGCCACAGGTGGCGGTGTT 18879248 18879229 Broad ACSM3 6296 hgsc.bcm.edu GRCh37 16 20781479 20781479 + synonymous_variant Silent SNP C C G novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000289416.5:c.123C>G p.Ser41= p.S41= ENST00000289416 NM_005622.3 41 tcC/tcG 0 Silent C 21 ACSM3 SNP 16 C G 20688980 20688980 Baylor ANO4 121601 hgsc.bcm.edu GRCh37 12 101505349 101505349 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000392979.3:c.2206T>C p.Tyr736His p.Y736H ENST00000392979 NM_178826.3 736 Tat/Cat 0 Missense_Mutation T 57 ANO4 SNP 12 T C 100029480 100029480 Baylor APC 324 hgsc.bcm.edu GRCh37 5 112154954 112154954 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000257430.4:c.1225C>G p.Leu409Val p.L409V ENST00000257430 NM_000038.5 409 Ctt/Gtt 0 Missense_Mutation C 32 APC SNP 5 C G 112182853 112182853 Baylor ATL1 51062 hgsc.bcm.edu GRCh37 14 51087327 51087328 + frameshift_variant Frame_Shift_Del DEL TG TG - novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 TG TG . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358385.6:c.873_874del p.Asp291GlufsTer15 p.D291Efs*15 ENST00000358385 NM_015915.4 291 gaTGaa/gaaa 0 Frame_Shift_Del TG 51 ATL1 DEL 14 TG - 50157078 50157077 Baylor RTFDC1 51507 hgsc.bcm.edu GRCh37 20 55088411 55088411 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000023939.4:c.518A>G p.Asn173Ser p.N173S ENST00000023939 NM_016407.3 173 aAt/aGt 0 Missense_Mutation A 4 C20orf43 SNP 20 A G 54521818 54521818 Baylor CD163 9332 hgsc.bcm.edu GRCh37 12 7653941 7653941 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000359156.4:c.251C>G p.Ala84Gly p.A84G ENST00000359156 NM_004244.5 84 gCg/gGg 0 Missense_Mutation G 38 CD163 SNP 12 G C 7545208 7545208 Baylor CD63 967 hgsc.bcm.edu GRCh37 12 56120578 56120578 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000549117.1:c.332T>C p.Val111Ala p.V111A ENST00000549117 NM_001257389.1 111 gTg/gCg 0 Missense_Mutation A 6 CD63 SNP 12 A G 54406845 54406845 Baylor CHRAC1 54108 hgsc.bcm.edu GRCh37 8 141521637 141521637 + synonymous_variant Silent SNP G G A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000220913.5:c.39G>A p.Glu13= p.E13= ENST00000220913 NM_017444.5 13 gaG/gaA 0 Silent G 34 CHRAC1 SNP 8 G A 141590819 141590819 Baylor CLCA1 1179 hgsc.bcm.edu GRCh37 1 86956984 86956984 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000234701.3:c.1394A>G p.Asn465Ser p.N465S ENST00000234701 465 aAc/aGc 0 Missense_Mutation A 2 CLCA1 SNP 1 A G 86729572 86729572 Baylor CNTFR 1271 hgsc.bcm.edu GRCh37 9 34556274 34556274 + synonymous_variant Silent SNP G G T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000378980.3:c.747C>A p.Leu249= p.L249= ENST00000378980 NM_147164.2 249 ctC/ctA 0 Silent G 45 CNTFR SNP 9 G T 34546274 34546274 Baylor COL14A1 7373 hgsc.bcm.edu GRCh37 8 121309824 121309824 + synonymous_variant Silent SNP C C A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000297848.3:c.4311C>A p.Gly1437= p.G1437= ENST00000297848 NM_021110.2 1437 ggC/ggA 0 Silent C 26 COL14A1 SNP 8 C A 121379005 121379005 Baylor CTPS2 56474 hgsc.bcm.edu GRCh37 X 16635355 16635355 + synonymous_variant Silent SNP C C G novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000443824.1:c.1464G>C p.Leu488= p.L488= ENST00000443824 NM_001144002.1 488 ctG/ctC 0 Silent C 29 CTPS2 SNP 23 C G 16545276 16545276 Baylor CYP1A2 1544 hgsc.bcm.edu GRCh37 15 75042400 75042400 + synonymous_variant Silent SNP C C A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000343932.4:c.321C>A p.Gly107= p.G107= ENST00000343932 NM_000761.3 107 ggC/ggA 0 Silent C 26 CYP1A2 SNP 15 C A 72829453 72829453 Baylor DCLK2 166614 hgsc.bcm.edu GRCh37 4 151153493 151153493 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000302176.8:c.1355A>G p.His452Arg p.H452R ENST00000302176 NM_001040261.4 452 cAc/cGc 0 Missense_Mutation A 6 DCLK2 SNP 4 A G 151372943 151372943 Baylor DEFB105B 504180 hgsc.bcm.edu GRCh37 8 7345253 7345253 + missense_variant Missense_Mutation SNP T T A rs62639778 Unknown TCGA-57-1582-01 TCGA-57-1582-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000335510.6:c.11T>A p.Ile4Asn p.I4N ENST00000335510 NM_001040703.1 4 aTc/aAc 0 Missense_Mutation T 50 DEFB105B SNP 8 T A 7332663 7332663 Baylor DPYSL4 10570 hgsc.bcm.edu GRCh37 10 134013906 134013906 + synonymous_variant Silent SNP C C T rs56326856 Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000338492.4:c.858C>T p.Asp286= p.D286= ENST00000338492 NM_006426.2 286 gaC/gaT 0 Silent C 19 DPYSL4 SNP 10 C T 133863896 133863896 Baylor ECM1 1893 hgsc.bcm.edu GRCh37 1 150483640 150483640 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000369049.4:c.755G>C p.Ser252Thr p.S252T ENST00000369049 NM_001202858.1 252 aGc/aCc 0 Missense_Mutation G 34 ECM1 SNP 1 G C 148750264 148750264 Baylor ECM2 1842 hgsc.bcm.edu GRCh37 9 95277072 95277072 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000344604.5:c.895C>T p.Arg299Ter p.R299* ENST00000344604 NM_001393.3 299 Cga/Tga 0 Nonsense_Mutation G 39 ECM2 SNP 9 G A 94316893 94316893 Baylor EEA1 8411 hgsc.bcm.edu GRCh37 12 93172961 93172961 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000322349.8:c.3584T>C p.Ile1195Thr p.I1195T ENST00000322349 NM_003566.3 1195 aTa/aCa 0 Missense_Mutation A 16 EEA1 SNP 12 A G 91697092 91697092 Baylor EGFR 1956 hgsc.bcm.edu GRCh37 7 55273280 55273280 + synonymous_variant Silent SNP G G A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000275493.2:c.3603G>A p.Ala1201= p.A1201= ENST00000275493 NM_005228.3 1201 gcG/gcA 0 Silent G 38 EGFR SNP 7 G A 55240774 55240774 Baylor EME1 146956 hgsc.bcm.edu GRCh37 17 48453533 48453533 + synonymous_variant Silent SNP G G A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393271.2:c.882G>A p.Arg294= p.R294= ENST00000393271 NM_001166131.1 294 agG/agA 0 Silent G 41 EME1 SNP 17 G A 45808532 45808532 Baylor FAM129C 199786 hgsc.bcm.edu GRCh37 19 17644411 17644411 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000335393.4:c.421G>A p.Gly141Ser p.G141S ENST00000335393 NM_173544.4 141 Ggc/Agc 0 Missense_Mutation G 43 FAM129C SNP 19 G A 17505411 17505411 Baylor FAM171B 165215 hgsc.bcm.edu GRCh37 2 187627323 187627323 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000304698.5:c.2254G>A p.Val752Ile p.V752I ENST00000304698 NM_177454.3 752 Gtc/Atc 0 Missense_Mutation G 40 FAM171B SNP 2 G A 187335568 187335568 Baylor FANCA 2175 hgsc.bcm.edu GRCh37 16 89849483 89849483 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000389301.3:c.1498C>G p.Pro500Ala p.P500A ENST00000389301 NM_000135.2 500 Ccc/Gcc 0 Missense_Mutation G 41 FANCA SNP 16 G C 88376984 88376984 Baylor FBXO38 81545 hgsc.bcm.edu GRCh37 5 147807211 147807211 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000394370.3:c.2354A>G p.Gln785Arg p.Q785R ENST00000394370 785 cAa/cGa 0 Missense_Mutation A 5 FBXO38 SNP 5 A G 147787404 147787404 Baylor FPR1 2357 hgsc.bcm.edu GRCh37 19 52249432 52249432 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000595042.1:c.816G>T p.Leu272Phe p.L272F ENST00000595042 NM_001193306.1 272 ttG/ttT 0 Missense_Mutation C 25 FPR1 SNP 19 C A 56941244 56941244 Baylor GABRA6 2559 hgsc.bcm.edu GRCh37 5 161119103 161119103 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000274545.5:c.983C>T p.Thr328Ile p.T328I ENST00000274545 328 aCc/aTc 0 Missense_Mutation C 18 GABRA6 SNP 5 C T 161051681 161051681 Baylor GABRB1 2560 hgsc.bcm.edu GRCh37 4 47405434 47405434 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295454.3:c.644A>T p.Asp215Val p.D215V ENST00000295454 NM_000812.3 215 gAc/gTc 0 Missense_Mutation A 10 GABRB1 SNP 4 A T 47100191 47100191 Baylor GHSR 2693 hgsc.bcm.edu GRCh37 3 172165575 172165575 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000241256.2:c.629T>A p.Leu210His p.L210H ENST00000241256 NM_198407.2 210 cTc/cAc 0 Missense_Mutation A 11 GHSR SNP 3 A T 173648269 173648269 Baylor GLI1 2735 hgsc.bcm.edu GRCh37 12 57858606 57858606 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000228682.2:c.344C>T p.Thr115Ile p.T115I ENST00000228682 NM_005269.2 115 aCa/aTa 0 Missense_Mutation C 17 GLI1 SNP 12 C T 56144873 56144873 Baylor GRIA3 2892 hgsc.bcm.edu GRCh37 X 122598936 122598936 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264357.5:c.2297T>A p.Val766Glu p.V766E ENST00000264357 NM_000828.4 766 gTg/gAg 0 Missense_Mutation T 59 GRIA3 SNP 23 T A 122426617 122426617 Baylor GRIN2D 2906 hgsc.bcm.edu GRCh37 19 48922495 48922495 + synonymous_variant Silent SNP C C T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000263269.3:c.1740C>T p.Pro580= p.P580= ENST00000263269 NM_000836.2 580 ccC/ccT 0 Silent C 24 GRIN2D SNP 19 C T 53614307 53614307 Baylor GSDMC 56169 hgsc.bcm.edu GRCh37 8 130774937 130774937 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000276708.4:c.611C>G p.Ala204Gly p.A204G ENST00000276708 NM_031415.2 204 gCg/gGg 0 Missense_Mutation G 38 GSDMC SNP 8 G C 130844119 130844119 Baylor HECW2 57520 hgsc.bcm.edu GRCh37 2 197085579 197085579 + synonymous_variant Silent SNP C C T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000260983.3:c.4233G>A p.Lys1411= p.K1411= ENST00000260983 NM_020760.1 1411 aaG/aaA 0 Silent C 20 HECW2 SNP 2 C T 196793824 196793824 Baylor HLF 3131 hgsc.bcm.edu GRCh37 17 53398036 53398036 + synonymous_variant Silent SNP C C T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000226067.5:c.684C>T p.Tyr228= p.Y228= ENST00000226067 NM_002126.4 228 taC/taT 0 Silent C 20 HLF SNP 17 C T 50753035 50753035 Baylor HYAL3 8372 hgsc.bcm.edu GRCh37 3 50332884 50332884 + synonymous_variant Silent SNP C C G novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000336307.1:c.150G>C p.Leu50= p.L50= ENST00000336307 NM_003549.3 50 ctG/ctC 0 Silent C 25 HYAL3 SNP 3 C G 50307888 50307888 Baylor KLHL9 55958 hgsc.bcm.edu GRCh37 9 21333640 21333640 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000359039.4:c.1219C>T p.Arg407Cys p.R407C ENST00000359039 407 Cgc/Tgc 0 Missense_Mutation G 38 KLHL9 SNP 9 G A 21323640 21323640 Baylor KPNB1 3837 hgsc.bcm.edu GRCh37 17 45734427 45734427 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000290158.4:c.483+1G>C p.X161_splice ENST00000290158 NM_002265.5 0 Splice_Site_SNP G 36 KPNB1 SNP 17 G C 43089426 43089426 Baylor KRT6B 3854 hgsc.bcm.edu GRCh37 12 52844246 52844246 + synonymous_variant Silent SNP A A G rs28542657 Unknown TCGA-57-1582-01 TCGA-57-1582-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000252252.3:c.699T>C p.Gly233= p.G233= ENST00000252252 NM_005555.3 233 ggT/ggC 0 Silent A 10 KRT6B SNP 12 A G 51130513 51130513 Baylor LCK 3932 hgsc.bcm.edu GRCh37 1 32739985 32739985 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000336890.5:c.55G>T p.Val19Leu p.V19L ENST00000336890 NM_005356.3 19 Gtg/Ttg 0 Missense_Mutation G 48 LCK SNP 1 G T 32512572 32512572 Baylor LRRC7 57554 hgsc.bcm.edu GRCh37 1 70541780 70541780 + synonymous_variant Silent SNP G G A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000035383.5:c.4137G>A p.Thr1379= p.T1379= ENST00000035383 NM_020794.2 1379 acG/acA 0 Silent G 40 LRRC7 SNP 1 G A 70314368 70314368 Baylor LYPD2 137797 hgsc.bcm.edu GRCh37 8 143832477 143832477 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000359228.3:c.170G>A p.Arg57Gln p.R57Q ENST00000359228 NM_205545.1 57 cGg/cAg 0 Missense_Mutation C 23 LYPD2 SNP 8 C T 143829479 143829479 Baylor MED13L 23389 hgsc.bcm.edu GRCh37 12 116406877 116406877 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000281928.3:c.6093C>G p.Phe2031Leu p.F2031L ENST00000281928 NM_015335.4 2031 ttC/ttG 0 Missense_Mutation G 41 MED13L SNP 12 G C 114891260 114891260 Baylor MFN1 55669 hgsc.bcm.edu GRCh37 3 179082173 179082173 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000471841.1:c.625G>A p.Glu209Lys p.E209K ENST00000471841 NM_033540.2 209 Gaa/Aaa 0 Missense_Mutation G 45 MFN1 SNP 3 G A 180564867 180564867 Baylor MORC2 22880 hgsc.bcm.edu GRCh37 22 31330113 31330113 + synonymous_variant Silent SNP C C T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000215862.4:c.2073G>A p.Glu691= p.E691= ENST00000215862 NM_014941.1 691 gaG/gaA 0 Silent C 32 MORC2 SNP 22 C T 29660113 29660113 Baylor MYH3 4621 hgsc.bcm.edu GRCh37 17 10535905 10535905 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000583535.1:c.4844T>G p.Leu1615Arg p.L1615R ENST00000583535 NM_002470.3 1615 cTc/cGc 0 Missense_Mutation A 11 MYH3 SNP 17 A C 10476630 10476630 Baylor NR1I3 9970 hgsc.bcm.edu GRCh37 1 161202662 161202662 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367980.2:c.483C>A p.Phe161Leu p.F161L ENST00000367980 NM_001077481.2 161 ttC/ttA 0 Missense_Mutation G 37 NR1I3 SNP 1 G T 159469286 159469286 Baylor PFAS 5198 hgsc.bcm.edu GRCh37 17 8166537 8166537 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000314666.6:c.1521G>C p.Lys507Asn p.K507N ENST00000314666 NM_012393.2 507 aaG/aaC 0 Missense_Mutation G 35 PFAS SNP 17 G C 8107262 8107262 Baylor PKDREJ 10343 hgsc.bcm.edu GRCh37 22 46654129 46654129 + synonymous_variant Silent SNP G G A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000253255.5:c.5091C>T p.Phe1697= p.F1697= ENST00000253255 NM_006071.1 1697 ttC/ttT 0 Silent G 45 PKDREJ SNP 22 G A 45032793 45032793 Baylor POLE 5426 hgsc.bcm.edu GRCh37 12 133214671 133214671 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000320574.5:c.5607C>G p.Asn1869Lys p.N1869K ENST00000320574 NM_006231.2 1869 aaC/aaG 0 Missense_Mutation G 44 POLE SNP 12 G C 131724744 131724744 Baylor PREX2 80243 hgsc.bcm.edu GRCh37 8 69009330 69009330 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000288368.4:c.2447A>T p.His816Leu p.H816L ENST00000288368 NM_024870.2 816 cAc/cTc 0 Missense_Mutation A 6 PREX2 SNP 8 A T 69171884 69171884 Baylor RIC3 79608 hgsc.bcm.edu GRCh37 11 8190440 8190440 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000309737.6:c.97del p.Arg33GlyfsTer18 p.R33Gfs*18 ENST00000309737 33 Cgg/gg 0 Frame_Shift_Del G 38 RIC3 DEL 11 G - 8147016 8147016 Baylor CLVS2 134829 hgsc.bcm.edu GRCh37 6 123384859 123384859 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000275162.5:c.937G>C p.Asp313His p.D313H ENST00000275162 NM_001010852.3 313 Gat/Cat 0 Missense_Mutation G 41 CLVS2 SNP 6 G C 123426558 123426558 Baylor RNASE11 122651 hgsc.bcm.edu GRCh37 14 21052340 21052340 + synonymous_variant Silent SNP G G A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000610205.1:c.294C>T p.Cys98= p.C98= ENST00000610205 NM_145250.3 98 tgC/tgT 0 Silent G 46 RNASE11 SNP 14 G A 20122180 20122180 Baylor PPP6R3 55291 hgsc.bcm.edu GRCh37 11 68305203 68305203 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393801.3:c.71T>G p.Leu24Arg p.L24R ENST00000393801 NM_001164160.1 24 cTg/cGg 0 Missense_Mutation T 55 PPP6R3 SNP 11 T G 68061779 68061779 Baylor SHROOM4 57477 hgsc.bcm.edu GRCh37 X 50378508 50378508 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000376020.2:c.565G>A p.Ala189Thr p.A189T ENST00000376020 NM_020717.3 189 Gcc/Acc 0 Missense_Mutation C 28 SHROOM4 SNP 23 C T 50395248 50395248 Baylor SLC2A9 56606 hgsc.bcm.edu GRCh37 4 9922141 9922141 + synonymous_variant Silent SNP C C G novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264784.3:c.870G>C p.Leu290= p.L290= ENST00000264784 NM_020041.2 290 ctG/ctC 0 Silent C 21 SLC2A9 SNP 4 C G 9531239 9531239 Baylor SLC7A2 6542 hgsc.bcm.edu GRCh37 8 17401015 17401015 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000004531.10:c.287C>A p.Ala96Asp p.A96D ENST00000004531 NM_001164771.1 96 gCt/gAt 0 Missense_Mutation C 28 SLC7A2 SNP 8 A A 17445394 17445394 Baylor SMC2 10592 hgsc.bcm.edu GRCh37 9 106887380 106887380 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000286398.7:c.2445A>C p.Lys815Asn p.K815N ENST00000286398 NM_006444.2 815 aaA/aaC 0 Missense_Mutation A 2 SMC2 SNP 9 A C 105927201 105927201 Baylor SNCAIP 9627 hgsc.bcm.edu GRCh37 5 121786273 121786273 + synonymous_variant Silent SNP A A G novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261368.8:c.1731A>G p.Pro577= p.P577= ENST00000261368 NM_005460.2 577 ccA/ccG 0 Silent A 7 SNCAIP SNP 5 A G 121814172 121814172 Baylor SPINT2 10653 hgsc.bcm.edu GRCh37 19 38774400 38774400 + synonymous_variant Silent SNP C C T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000301244.7:c.240C>T p.Thr80= p.T80= ENST00000301244 NM_021102.3 80 acC/acT 0 Silent C 21 SPINT2 SNP 19 C T 43466240 43466240 Baylor STAB2 55576 hgsc.bcm.edu GRCh37 12 104136182 104136182 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000388887.2:c.5882-1G>C p.X1961_splice ENST00000388887 NM_017564.9 0 Splice_Site_SNP G 34 STAB2 SNP 12 G C 102660312 102660312 Baylor SYT6 148281 hgsc.bcm.edu GRCh37 1 114680339 114680339 + synonymous_variant Silent SNP G G A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000609117.1:c.594C>T p.Thr198= p.T198= ENST00000609117 198 acC/acT 0 Silent G 43 SYT6 SNP 1 G A 114481862 114481862 Baylor TLR8 51311 hgsc.bcm.edu GRCh37 X 12938670 12938670 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000218032.6:c.1511T>A p.Leu504His p.L504H ENST00000218032 NM_138636.4 504 cTt/cAt 0 Missense_Mutation T 56 TLR8 SNP 23 T A 12848591 12848591 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577574 7577574 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.707A>G p.Tyr236Cys p.Y236C ENST00000269305 NM_001126112.2 236 tAc/tGc 0 Missense_Mutation T 57 TP53 SNP 17 T C 7518299 7518299 Baylor TTK 7272 hgsc.bcm.edu GRCh37 6 80747707 80747707 + synonymous_variant Silent SNP A A C novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000369798.2:c.2073A>C p.Pro691= p.P691= ENST00000369798 NM_003318.4 691 ccA/ccC 0 Silent A 6 TTK SNP 6 A C 80804426 80804426 Baylor UQCR11 10975 hgsc.bcm.edu GRCh37 19 1599447 1599447 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C G novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000585937.1:c.163G>C p.Asp55His p.D55H ENST00000585937 55 Gat/Cat 0 Missense_Mutation C 30 UQCR11 SNP 19 C G 1550447 1550447 Baylor USP5 8078 hgsc.bcm.edu GRCh37 12 6970774 6970774 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000229268.8:c.1666G>T p.Ala556Ser p.A556S ENST00000229268 NM_001098536.1 556 Gct/Tct 0 Missense_Mutation G 34 USP5 SNP 12 G T 6841035 6841035 Baylor VWF 7450 hgsc.bcm.edu GRCh37 12 6077331 6077331 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261405.5:c.7732C>G p.Arg2578Gly p.R2578G ENST00000261405 NM_000552.3 2578 Cgc/Ggc 0 Missense_Mutation G 38 VWF SNP 12 G C 5947592 5947592 Baylor XRCC1 7515 hgsc.bcm.edu GRCh37 19 44051129 44051129 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000262887.5:c.1200G>A p.Arg400= p.R400= ENST00000262887 400 agG/agA 0 Silent C 18 XRCC1 SNP 19 C T 48742969 48742969 Baylor ZNF804B 219578 hgsc.bcm.edu GRCh37 7 88963746 88963746 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-57-1582-01 TCGA-57-1582-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000333190.4:c.1450C>A p.Leu484Ile p.L484I ENST00000333190 NM_181646.2 484 Ctt/Att 0 Missense_Mutation C 28 ZNF804B SNP 7 C A 88801682 88801682 Baylor RERE 473 broad.mit.edu GRCh37 1 8418949 8418949 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000337907.3:c.3646C>T p.Arg1216Cys p.R1216C ENST00000337907 NM_012102.3 1216 Cgc/Tgc 0 Missense_Mutation G 37 RERE SNP 1 G A 8341536 8341536 Broad MOV10 4343 broad.mit.edu GRCh37 1 113217644 113217644 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000413052.2:c.110C>G p.Thr37Ser p.T37S ENST00000413052 NM_001130079.1 37 aCc/aGc 0 Missense_Mutation C 18 MOV10 SNP 1 C G 113019167 113019167 Broad PCDH15 65217 broad.mit.edu GRCh37 10 56077158 56077158 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000361849.3:c.749C>A p.Thr250Asn p.T250N ENST00000361849 NM_001142768.1 250 aCt/aAt 0 Missense_Mutation G 36 PCDH15 SNP 10 G T 55747164 55747164 Broad MYOF 26509 broad.mit.edu GRCh37 10 95116557 95116557 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000359263.4:c.3169A>G p.Ile1057Val p.I1057V ENST00000359263 NM_013451.3 1057 Att/Gtt 0 Missense_Mutation T 52 MYOF SNP 10 T C 95106547 95106547 Broad CD163 9332 broad.mit.edu GRCh37 12 7635317 7635317 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000359156.4:c.3169C>G p.Leu1057Val p.L1057V ENST00000359156 NM_004244.5 1057 Ctt/Gtt 0 Missense_Mutation G 35 CD163 SNP 12 G C 7526584 7526584 Broad A2ML1 144568 broad.mit.edu GRCh37 12 9016477 9016477 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000299698.7:c.3590C>G p.Thr1197Arg p.T1197R ENST00000299698 NM_144670.4 1197 aCa/aGa 0 Missense_Mutation C 17 A2ML1 SNP 12 C G 8907744 8907744 Broad KRT72 140807 broad.mit.edu GRCh37 12 52981593 52981593 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000293745.2:c.1132G>A p.Gly378Arg p.G378R ENST00000293745 NM_080747.2 378 Ggg/Agg 0 Missense_Mutation C 22 KRT72 SNP 12 C T 51267860 51267860 Broad SHC4 399694 broad.mit.edu GRCh37 15 49135648 49135648 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000332408.4:c.1441C>T p.Gln481Ter p.Q481* ENST00000332408 NM_203349.3 481 Caa/Taa 0 Nonsense_Mutation G 45 SHC4 SNP 15 G A 46922940 46922940 Broad TLN2 83660 broad.mit.edu GRCh37 15 63112743 63112743 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000561311.1:c.6936G>A p.Gly2312= p.G2312= ENST00000561311 2312 ggG/ggA 0 Silent G 43 TLN2 SNP 15 G A 60899796 60899796 Broad CNOT1 23019 broad.mit.edu GRCh37 16 58589407 58589407 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000317147.5:c.2639C>A p.Thr880Asn p.T880N ENST00000317147 NM_016284.4 880 aCt/aAt 0 Missense_Mutation G 36 CNOT1 SNP 16 G T 57146908 57146908 Broad TP53 7157 broad.mit.edu GRCh37 17 7578394 7578394 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.536A>G p.His179Arg p.H179R ENST00000269305 NM_001126112.2 179 cAt/cGt 0 Missense_Mutation T 51 TP53 SNP 17 T C 7519119 7519119 Broad ZNF521 25925 broad.mit.edu GRCh37 18 22805634 22805634 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000361524.3:c.2248A>G p.Lys750Glu p.K750E ENST00000361524 NM_015461.2 750 Aaa/Gaa 0 Missense_Mutation T 62 ZNF521 SNP 18 T C 21059632 21059632 Broad CDH2 1000 broad.mit.edu GRCh37 18 25565525 25565525 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000269141.3:c.1942A>G p.Ile648Val p.I648V ENST00000269141 NM_001792.3 648 Att/Gtt 0 Missense_Mutation T 49 CDH2 SNP 18 T C 23819523 23819523 Broad FSHR 2492 broad.mit.edu GRCh37 2 49190914 49190914 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000406846.2:c.1046A>T p.Lys349Met p.K349M ENST00000406846 NM_000145.3 349 aAg/aTg 0 Missense_Mutation T 56 FSHR SNP 2 T A 49044418 49044418 Broad RETSAT 54884 broad.mit.edu GRCh37 2 85578014 85578014 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000295802.4:c.486T>A p.Asn162Lys p.N162K ENST00000295802 NM_017750.3 162 aaT/aaA 0 Missense_Mutation A 8 RETSAT SNP 2 A T 85431525 85431525 Broad ATIC 471 broad.mit.edu GRCh37 2 216177302 216177302 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000236959.9:c.101C>T p.Ser34Phe p.S34F ENST00000236959 NM_004044.6 34 tCc/tTc 0 Missense_Mutation C 30 ATIC SNP 2 C T 215885547 215885547 Broad TCF20 6942 broad.mit.edu GRCh37 22 42607672 42607672 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000359486.3:c.3640C>T p.Pro1214Ser p.P1214S ENST00000359486 NM_005650.2 1214 Ccg/Tcg 0 Missense_Mutation G 42 TCF20 SNP 22 G A 40937616 40937616 Broad ACVR2B 93 broad.mit.edu GRCh37 3 38518817 38518817 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000352511.4:c.92A>T p.Tyr31Phe p.Y31F ENST00000352511 NM_001106.3 31 tAc/tTc 0 Missense_Mutation A 14 ACVR2B SNP 3 A T 38493821 38493821 Broad KIAA1524 57650 broad.mit.edu GRCh37 3 108271110 108271110 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000295746.8:c.2518G>A p.Glu840Lys p.E840K ENST00000295746 NM_020890.2 840 Gaa/Aaa 0 Missense_Mutation C 32 KIAA1524 SNP 3 C T 109753800 109753800 Broad STXBP5L 9515 broad.mit.edu GRCh37 3 120976115 120976115 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000273666.6:c.1767T>A p.Ser589Arg p.S589R ENST00000273666 NM_014980.2 589 agT/agA 0 Missense_Mutation T 58 STXBP5L SNP 3 T A 122458805 122458805 Broad LAMP3 27074 broad.mit.edu GRCh37 3 182872086 182872086 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000265598.3:c.143T>C p.Ile48Thr p.I48T ENST00000265598 NM_014398.3 48 aTa/aCa 0 Missense_Mutation A 16 LAMP3 SNP 3 A G 184354780 184354780 Broad SMCO1 broad.mit.edu GRCh37 3 196235129 196235129 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000397537.2:c.274C>T p.Leu92Phe p.L92F ENST00000397537 NM_001077657.1 92 Ctt/Ttt 0 Missense_Mutation G 34 C3orf43 SNP 3 G A 197719526 197719526 Broad PPP2R2C 5522 broad.mit.edu GRCh37 4 6374374 6374374 + synonymous_variant Silent SNP G G T novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000335585.5:c.501C>A p.Ile167= p.I167= ENST00000335585 NM_181876.2 167 atC/atA 0 Silent G 33 PPP2R2C SNP 4 G T 6425275 6425275 Broad ANAPC4 29945 broad.mit.edu GRCh37 4 25392590 25392590 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000315368.3:c.658G>C p.Val220Leu p.V220L ENST00000315368 NM_013367.2 220 Gtc/Ctc 0 Missense_Mutation G 44 ANAPC4 SNP 4 G C 25001688 25001688 Broad UGDH 7358 broad.mit.edu GRCh37 4 39501798 39501798 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000316423.6:c.1450C>T p.Leu484Phe p.L484F ENST00000316423 NM_001184701.1 484 Ctt/Ttt 0 Missense_Mutation G 33 UGDH SNP 4 G A 39178193 39178193 Broad EPHA5 2044 broad.mit.edu GRCh37 4 66217170 66217170 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000273854.3:c.2445A>G p.Lys815= p.K815= ENST00000273854 NM_004439.5 815 aaA/aaG 0 Silent T 56 EPHA5 SNP 4 T C 65899765 65899765 Broad CCT5 22948 broad.mit.edu GRCh37 5 10263335 10263335 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000280326.4:c.1407T>G p.Asn469Lys p.N469K ENST00000280326 NM_012073.3 469 aaT/aaG 0 Missense_Mutation T 50 CCT5 SNP 5 T G 10316335 10316335 Broad DNAH5 1767 broad.mit.edu GRCh37 5 13770873 13770873 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000265104.4:c.9590G>A p.Arg3197Gln p.R3197Q ENST00000265104 NM_001369.2 3197 cGg/cAg 0 Missense_Mutation C 23 DNAH5 SNP 5 C T 13823873 13823873 Broad CUL9 23113 broad.mit.edu GRCh37 6 43152469 43152469 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000252050.4:c.421G>A p.Ala141Thr p.A141T ENST00000252050 NM_015089.2 141 Gct/Act 0 Missense_Mutation G 38 CUL9 SNP 6 G A 43260447 43260447 Broad ABCC10 89845 broad.mit.edu GRCh37 6 43402564 43402564 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000372530.4:c.1586G>A p.Gly529Glu p.G529E ENST00000372530 NM_001198934.1 529 gGg/gAg 0 Missense_Mutation G 43 ABCC10 SNP 6 G A 43510542 43510542 Broad ZNF746 155061 broad.mit.edu GRCh37 7 149174723 149174723 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000458143.2:c.644G>T p.Gly215Val p.G215V ENST00000458143 NM_001163474.1 215 gGg/gTg 0 Missense_Mutation C 22 ZNF746 SNP 7 C A 148805656 148805656 Broad DLC1 10395 broad.mit.edu GRCh37 8 12960305 12960305 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000276297.4:c.1560G>A p.Arg520= p.R520= ENST00000276297 NM_182643.2 520 cgG/cgA 0 Silent C 30 DLC1 SNP 8 C T 13004676 13004676 Broad INTS10 55174 broad.mit.edu GRCh37 8 19675162 19675162 + synonymous_variant Silent SNP A A G novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000397977.3:c.114A>G p.Ala38= p.A38= ENST00000397977 NM_018142.2 38 gcA/gcG 0 Silent A 7 INTS10 SNP 8 A G 19719442 19719442 Broad DMRT1 1761 broad.mit.edu GRCh37 9 894144 894144 + synonymous_variant Silent SNP T T A novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000382276.3:c.771T>A p.Leu257= p.L257= ENST00000382276 NM_021951.2 257 ctT/ctA 0 Silent T 62 DMRT1 SNP 9 T A 884144 884144 Broad TRUB2 26995 broad.mit.edu GRCh37 9 131071899 131071899 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown x x x ENST00000372890.4:c.926G>A p.Ser309Asn p.S309N ENST00000372890 NM_015679.1 309 aGt/aAt 0 Missense_Mutation C 20 TRUB2 SNP 9 C T 130111720 130111720 Broad SUSD4 55061 broad.mit.edu GRCh37 1 223536703 223536705 + inframe_deletion In_Frame_Del DEL TGC TGC - novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000343846.3:c.63_65delGCA p.Gln22del p.Q22del ENST00000343846 21 caGCAa/caa 0 In_Frame_Del TGC 63 SUSD4 DEL 1 - TGC 221603328 221603326 Broad LRRIQ1 84125 broad.mit.edu GRCh37 12 85517872 85517872 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-09-2045-01 TCGA-09-2045-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000393217.2:c.3582del p.Glu1195LysfsTer10 p.E1195Kfs*10 ENST00000393217 NM_001079910.1 1194 gcA/gc 0 Frame_Shift_Del A 7 LRRIQ1 DEL 12 - A 84042003 84042003 Broad ANGEL1 23357 hgsc.bcm.edu GRCh37 14 77273001 77273001 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000251089.2:c.1138C>T p.Gln380Ter p.Q380* ENST00000251089 NM_015305.3 380 Caa/Taa 0 Nonsense_Mutation G 48 ANGEL1 SNP 14 G A 76342754 76342754 Baylor CACNA1E 777 hgsc.bcm.edu GRCh37 1 181740453 181740453 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367573.2:c.4906G>A p.Glu1636Lys p.E1636K ENST00000367573 NM_001205293.1 1636 Gag/Aag 0 Missense_Mutation G 37 CACNA1E SNP 1 G A 180007076 180007076 Baylor CHD6 84181 hgsc.bcm.edu GRCh37 20 40050566 40050566 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373233.3:c.4709A>G p.Tyr1570Cys p.Y1570C ENST00000373233 NM_032221.4 1570 tAc/tGc 0 Missense_Mutation T 57 CHD6 SNP 20 T C 39483980 39483980 Baylor COL12A1 1303 hgsc.bcm.edu GRCh37 6 75855866 75855866 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000322507.8:c.4512C>T p.Ile1504= p.I1504= ENST00000322507 NM_004370.5 1504 atC/atT 0 Silent G 33 COL12A1 SNP 6 G A 75912586 75912586 Baylor COL12A1 1303 hgsc.bcm.edu GRCh37 6 75855879 75855879 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000322507.8:c.4499C>G p.Ala1500Gly p.A1500G ENST00000322507 NM_004370.5 1500 gCt/gGt 0 Missense_Mutation G 34 COL12A1 SNP 6 G C 75912599 75912599 Baylor LCLAT1 253558 hgsc.bcm.edu GRCh37 2 30863099 30863099 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000309052.4:c.859C>T p.Arg287Trp p.R287W ENST00000309052 NM_182551.3 287 Cgg/Tgg 0 Missense_Mutation C 23 LCLAT1 SNP 2 C T 30716603 30716603 Baylor MCM2 4171 hgsc.bcm.edu GRCh37 3 127339643 127339643 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000265056.7:c.2368G>A p.Asp790Asn p.D790N ENST00000265056 NM_004526.3 790 Gac/Aac 0 Missense_Mutation G 37 MCM2 SNP 3 G A 128822333 128822333 Baylor MYO3A 53904 hgsc.bcm.edu GRCh37 10 26385321 26385321 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265944.5:c.1574A>G p.Asn525Ser p.N525S ENST00000265944 NM_017433.4 525 aAt/aGt 0 Missense_Mutation A 4 MYO3A SNP 10 A G 26425327 26425327 Baylor MYOM3 127294 hgsc.bcm.edu GRCh37 1 24433676 24433676 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374434.3:c.289C>T p.Arg97Ter p.R97* ENST00000374434 NM_152372.3 97 Cga/Tga 0 Nonsense_Mutation G 38 MYOM3 SNP 1 G A 24306263 24306263 Baylor OR2T3 343173 hgsc.bcm.edu GRCh37 1 248637193 248637194 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359594.2:c.548dup p.Cys184LeufsTer2 p.C184Lfs*2 ENST00000359594 NM_001005495.1 181 agt/agTt 0 Frame_Shift_Ins - 36 OR2T3 INS 1 - T 246703817 246703816 Baylor PDAP1 11333 hgsc.bcm.edu GRCh37 7 99001069 99001069 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000350498.3:c.165del p.Lys56AsnfsTer3 p.K56Nfs*3 ENST00000350498 NM_014891.6 55 aaG/aa 0 Frame_Shift_Del C 32 PDAP1 DEL 7 C - 98839005 98839005 Baylor RALY 22913 hgsc.bcm.edu GRCh37 20 32661419 32661419 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000246194.3:c.307A>T p.Arg103Ter p.R103* ENST00000246194 NM_016732.2 103 Aga/Tga 0 Nonsense_Mutation A 11 RALY SNP 20 A T 32125080 32125080 Baylor SLC39A12 221074 hgsc.bcm.edu GRCh37 10 18289716 18289716 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000377369.2:c.1721C>T p.Thr574Met p.T574M ENST00000377369 NM_001145195.1 574 aCg/aTg 0 Missense_Mutation C 19 SLC39A12 SNP 10 C T 18329722 18329722 Baylor SLC4A8 9498 hgsc.bcm.edu GRCh37 12 51888785 51888785 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000453097.2:c.2826C>T p.Ile942= p.I942= ENST00000453097 NM_001039960.2 942 atC/atT 0 Silent C 32 SLC4A8 SNP 12 C T 50175052 50175052 Baylor SMYD2 56950 hgsc.bcm.edu GRCh37 1 214491481 214491481 + splice_region_variant,synonymous_variant Splice_Region SNP A A G novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000366957.5:c.408A>G p.Ser136= p.S136= ENST00000366957 NM_020197.2 136 tcA/tcG 0 Silent A 6 SMYD2 SNP 1 A G 212558104 212558104 Baylor STMN4 81551 hgsc.bcm.edu GRCh37 8 27097669 27097669 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000350889.4:c.410C>T p.Ala137Val p.A137V ENST00000350889 NM_030795.2 137 gCg/gTg 0 Missense_Mutation G 38 STMN4 SNP 8 G A 27153586 27153586 Baylor TBC1D17 79735 hgsc.bcm.edu GRCh37 19 50381769 50381770 + inframe_insertion In_Frame_Ins INS - - CTG novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000221543.5:c.137_139dup p.Leu46dup p.L46dup ENST00000221543 NM_024682.2 45 -/CTG 0 In_Frame_Ins - 30 TBC1D17 INS 19 - CTG 55073582 55073581 Baylor TOP2A 7153 hgsc.bcm.edu GRCh37 17 38569199 38569200 + frameshift_variant Frame_Shift_Del DEL CT CT - novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 CT CT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000423485.1:c.600_601del p.Arg200SerfsTer3 p.R200Sfs*3 ENST00000423485 NM_001067.3 200 agAGct/agct 0 Frame_Shift_Del CT 28 TOP2A DEL 17 CT - 35822726 35822725 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578461 7578461 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000269305.4:c.469G>T p.Val157Phe p.V157F ENST00000269305 NM_001126112.2 157 Gtc/Ttc 0 Missense_Mutation C 19 TP53 SNP 17 C A 7519186 7519186 Baylor TUSC3 7991 hgsc.bcm.edu GRCh37 8 15517134 15517134 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000503731.1:c.545T>C p.Ile182Thr p.I182T ENST00000503731 NM_006765.3 182 aTt/aCt 0 Missense_Mutation T 52 TUSC3 SNP 8 T C 15561505 15561505 Baylor VPS13D 55187 hgsc.bcm.edu GRCh37 1 12313802 12313802 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1105-01 TCGA-24-1105-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358136.3:c.588G>T p.Lys196Asn p.K196N ENST00000358136 NM_015378.2 196 aaG/aaT 0 Missense_Mutation G 34 VPS13D SNP 1 G T 12236389 12236389 Baylor NPHP4 261734 broad.mit.edu GRCh37 1 6008230 6008230 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000378156.4:c.892G>C p.Val298Leu p.V298L ENST00000378156 NM_015102.3 298 Gtg/Ctg 0 Missense_Mutation C 19 NPHP4 SNP 1 C G 5930817 5930817 Broad PADI6 353238 broad.mit.edu GRCh37 1 17727896 17727896 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000434762.2:n.2098G>C *700* ENST00000434762 0 Missense_Mutation G 44 PADI6 SNP 1 G C 17600483 17600483 Broad KIF17 57576 broad.mit.edu GRCh37 1 21024944 21024944 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000247986.2:c.1161G>C p.Gln387His p.Q387H ENST00000247986 387 caG/caC 0 Missense_Mutation C 24 KIF17 SNP 1 C G 20897531 20897531 Broad HMGCL 3155 broad.mit.edu GRCh37 1 24130925 24130925 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000374490.3:c.841C>T p.Leu281= p.L281= ENST00000374490 NM_000191.2 281 Ctg/Ttg 0 Silent G 35 HMGCL SNP 1 G A 24003512 24003512 Broad SRSF4 6429 broad.mit.edu GRCh37 1 29474973 29474973 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000373795.4:c.1434T>G p.Ser478= p.S478= ENST00000373795 NM_005626.4 478 tcT/tcG 0 Silent A 7 SRSF4 SNP 1 A C 29347560 29347560 Broad AMPD1 270 broad.mit.edu GRCh37 1 115216593 115216593 + synonymous_variant Silent SNP G G A rs34778674 Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000520113.2:c.2010C>T p.Phe670= p.F670= ENST00000520113 670 ttC/ttT 0 Silent G 41 AMPD1 SNP 1 G A 115018116 115018116 Broad ADAR 103 broad.mit.edu GRCh37 1 154558743 154558743 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000368474.4:c.3116A>G p.Lys1039Arg p.K1039R ENST00000368474 NM_001111.4 1039 aAa/aGa 0 Missense_Mutation T 64 ADAR SNP 1 T C 152825367 152825367 Broad CCT3 7203 broad.mit.edu GRCh37 1 156281993 156281993 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000295688.3:c.994G>C p.Val332Leu p.V332L ENST00000295688 NM_005998.4 332 Gtc/Ctc 0 Missense_Mutation C 20 CCT3 SNP 1 C G 154548617 154548617 Broad INSRR 3645 broad.mit.edu GRCh37 1 156819129 156819129 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000368195.3:c.1353A>G p.Glu451= p.E451= ENST00000368195 NM_014215.2 451 gaA/gaG 0 Silent T 60 INSRR SNP 1 T C 155085753 155085753 Broad CASQ1 844 broad.mit.edu GRCh37 1 160164869 160164869 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000368078.3:c.533A>G p.Asp178Gly p.D178G ENST00000368078 178 gAt/gGt 0 Missense_Mutation A 12 CASQ1 SNP 1 A G 158431493 158431493 Broad DARS2 55157 broad.mit.edu GRCh37 1 173802526 173802526 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000361951.4:c.505C>G p.Leu169Val p.L169V ENST00000361951 NM_018122.4 169 Ctt/Gtt 0 Missense_Mutation C 32 DARS2 SNP 1 C G 172069149 172069149 Broad CACNA1S 779 broad.mit.edu GRCh37 1 201047109 201047109 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000362061.3:c.1517G>T p.Ser506Ile p.S506I ENST00000362061 NM_000069.2 506 aGc/aTc 0 Missense_Mutation C 28 CACNA1S SNP 1 C A 199313732 199313732 Broad PKP1 5317 broad.mit.edu GRCh37 1 201286803 201286803 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000263946.3:c.950G>T p.Arg317Met p.R317M ENST00000263946 NM_000299.3 317 aGg/aTg 0 Missense_Mutation G 35 PKP1 SNP 1 G T 199553426 199553426 Broad CHI3L1 1116 broad.mit.edu GRCh37 1 203149748 203149748 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000255409.3:c.744G>T p.Gly248= p.G248= ENST00000255409 NM_001276.2 248 ggG/ggT 0 Silent C 22 CHI3L1 SNP 1 C A 201416371 201416371 Broad MLK4 84451 broad.mit.edu GRCh37 1 233511709 233511709 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000366624.3:c.1723C>T p.Arg575Ter p.R575* ENST00000366624 NM_032435.2 575 Cga/Tga 0 Nonsense_Mutation C 31 KIAA1804 SNP 1 C T 231578332 231578332 Broad TRIM58 25893 broad.mit.edu GRCh37 1 248039645 248039645 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000366481.3:c.1315C>A p.Leu439Ile p.L439I ENST00000366481 NM_015431.3 439 Ctc/Atc 0 Missense_Mutation C 20 TRIM58 SNP 1 C A 246106268 246106268 Broad AKR1C1 1645 broad.mit.edu GRCh37 10 5008151 5008151 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000380872.4:c.130G>A p.Ala44Thr p.A44T ENST00000380872 NM_001353.5 44 Gct/Act 0 Missense_Mutation G 34 AKR1C1 SNP 10 G A 4998151 4998151 Broad SVIL 6840 broad.mit.edu GRCh37 10 29822315 29822315 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000375398.2:c.981A>C p.Val327= p.V327= ENST00000375398 327 gtA/gtC 0 Silent T 61 SVIL SNP 10 T G 29862321 29862321 Broad SVIL 6840 broad.mit.edu GRCh37 10 29839983 29839983 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000375398.2:c.370C>G p.Leu124Val p.L124V ENST00000375398 124 Ctg/Gtg 0 Missense_Mutation G 33 SVIL SNP 10 G C 29879989 29879989 Broad ZNF438 220929 broad.mit.edu GRCh37 10 31137718 31137718 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000436087.2:c.1616T>C p.Ile539Thr p.I539T ENST00000436087 NM_001143766.1 539 aTt/aCt 0 Missense_Mutation A 4 ZNF438 SNP 10 A G 31177724 31177724 Broad C10orf71 118461 broad.mit.edu GRCh37 10 50531413 50531413 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000374144.3:c.823A>C p.Ser275Arg p.S275R ENST00000374144 275 Agt/Cgt 0 Missense_Mutation A 15 C10orf71 SNP 10 A C 50201419 50201419 Broad LDB3 11155 broad.mit.edu GRCh37 10 88441356 88441356 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000429277.2:c.485G>C p.Gly162Ala p.G162A ENST00000429277 NM_001171610.1 162 gGc/gCc 0 Missense_Mutation G 42 LDB3 SNP 10 G C 88431336 88431336 Broad BTRC 8945 broad.mit.edu GRCh37 10 103296374 103296374 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000370187.3:c.1541T>A p.Phe514Tyr p.F514Y ENST00000370187 NM_033637.3 514 tTt/tAt 0 Missense_Mutation T 64 BTRC SNP 10 T A 103286364 103286364 Broad TECTB 6975 broad.mit.edu GRCh37 10 114046094 114046094 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000369422.3:c.428T>C p.Val143Ala p.V143A ENST00000369422 NM_058222.2 143 gTg/gCg 0 Missense_Mutation T 59 TECTB SNP 10 T C 114036084 114036084 Broad ATRNL1 26033 broad.mit.edu GRCh37 10 117026438 117026438 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000355044.3:c.1937G>T p.Gly646Val p.G646V ENST00000355044 NM_207303.2 646 gGg/gTg 0 Missense_Mutation G 43 ATRNL1 SNP 10 G T 117016428 117016428 Broad INPP5F 22876 broad.mit.edu GRCh37 10 121571370 121571370 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000361976.2:c.1789G>A p.Glu597Lys p.E597K ENST00000361976 NM_014937.3 597 Gaa/Aaa 0 Missense_Mutation G 41 INPP5F SNP 10 G A 121561360 121561360 Broad MUC5B 727897 broad.mit.edu GRCh37 11 1272554 1272554 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000529681.1:c.14444C>T p.Thr4815Met p.T4815M ENST00000529681 NM_002458.2 4815 aCg/aTg 0 Missense_Mutation C 19 MUC5B SNP 11 C T 1229130 1229130 Broad SBF2 81846 broad.mit.edu GRCh37 11 9878071 9878071 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000256190.8:c.2297A>C p.Asn766Thr p.N766T ENST00000256190 NM_030962.3 766 aAc/aCc 0 Missense_Mutation T 60 SBF2 SNP 11 T G 9834647 9834647 Broad ARFGAP2 84364 broad.mit.edu GRCh37 11 47187912 47187912 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000524782.1:c.1452G>C p.Leu484= p.L484= ENST00000524782 NM_032389.4 484 ctG/ctC 0 Silent C 25 ARFGAP2 SNP 11 C G 47144488 47144488 Broad OR4S2 219431 broad.mit.edu GRCh37 11 55418448 55418448 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000312422.2:c.69A>T p.Lys23Asn p.K23N ENST00000312422 NM_001004059.2 23 aaA/aaT 0 Missense_Mutation A 3 OR4S2 SNP 11 A T 55175024 55175024 Broad OR10W1 81341 broad.mit.edu GRCh37 11 58035166 58035166 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000395079.2:c.165C>T p.Gly55= p.G55= ENST00000395079 NM_207374.3 55 ggC/ggT 0 Silent G 46 OR10W1 SNP 11 G A 57791742 57791742 Broad OR5B3 441608 broad.mit.edu GRCh37 11 58170873 58170873 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000309403.2:c.10A>G p.Lys4Glu p.K4E ENST00000309403 NM_001005469.1 4 Aag/Gag 0 Missense_Mutation T 61 OR5B3 SNP 11 T C 57927449 57927449 Broad OSBP 5007 broad.mit.edu GRCh37 11 59361566 59361566 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000263847.1:c.1474A>G p.Ser492Gly p.S492G ENST00000263847 NM_002556.2 492 Agt/Ggt 0 Missense_Mutation T 55 OSBP SNP 11 T C 59118142 59118142 Broad NUMA1 4926 broad.mit.edu GRCh37 11 71726747 71726747 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000393695.3:c.1802C>T p.Ala601Val p.A601V ENST00000393695 NM_006185.2 601 gCg/gTg 0 Missense_Mutation G 38 NUMA1 SNP 11 G A 71404395 71404395 Broad EED 8726 broad.mit.edu GRCh37 11 85956304 85956304 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000263360.6:c.33G>A p.Ala11= p.A11= ENST00000263360 NM_003797.3 11 gcG/gcA 0 Silent G 39 EED SNP 11 G A 85633952 85633952 Broad TRPC6 7225 broad.mit.edu GRCh37 11 101362313 101362313 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000344327.3:c.1102C>A p.Leu368Ile p.L368I ENST00000344327 NM_004621.5 368 Ctt/Att 0 Missense_Mutation G 36 TRPC6 SNP 11 G T 100867523 100867523 Broad ANGPTL5 253935 broad.mit.edu GRCh37 11 101762205 101762205 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000334289.3:c.972C>T p.Cys324= p.C324= ENST00000334289 NM_178127.4 324 tgC/tgT 0 Silent G 46 ANGPTL5 SNP 11 G A 101267415 101267415 Broad NCAM1 4684 broad.mit.edu GRCh37 11 113130978 113130978 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000524665.1:c.2211C>T p.Asn737= p.N737= ENST00000524665 NM_000615.6 737 aaC/aaT 0 Silent C 18 NCAM1 SNP 11 C T 112636188 112636188 Broad SCN4B 6330 broad.mit.edu GRCh37 11 118012004 118012004 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000324727.4:c.511G>T p.Gly171Cys p.G171C ENST00000324727 NM_174934.3 171 Ggc/Tgc 0 Missense_Mutation C 22 SCN4B SNP 11 C A 117517214 117517214 Broad PHLDB1 23187 broad.mit.edu GRCh37 11 118498356 118498356 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000361417.2:c.817A>T p.Ser273Cys p.S273C ENST00000361417 NM_015157.3 273 Agt/Tgt 0 Missense_Mutation A 7 PHLDB1 SNP 11 A T 118003566 118003566 Broad PRB3 5544 broad.mit.edu GRCh37 12 11420893 11420893 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000381842.3:c.290G>C p.Gly97Ala p.G97A ENST00000381842 NM_006249.4 97 gGa/gCa 0 Missense_Mutation C 30 PRB3 SNP 12 C G 11312160 11312160 Broad RECQL 5965 broad.mit.edu GRCh37 12 21623996 21623996 + synonymous_variant Silent SNP C C G rs2417989 Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000421138.2:c.1704G>C p.Ser568= p.S568= ENST00000421138 568 tcG/tcC 0 Silent C 19 RECQL SNP 12 C G 21515263 21515263 Broad FAM222A 84915 broad.mit.edu GRCh37 12 110206916 110206916 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000538780.1:c.1182G>C p.Lys394Asn p.K394N ENST00000538780 NM_032829.2 394 aaG/aaC 0 Missense_Mutation G 33 C12orf34 SNP 12 G C 108691299 108691299 Broad RASAL1 8437 broad.mit.edu GRCh37 12 113543598 113543598 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000546530.1:c.1754C>T p.Ala585Val p.A585V ENST00000546530 NM_004658.2 585 gCc/gTc 0 Missense_Mutation G 42 RASAL1 SNP 12 G A 112027981 112027981 Broad PXN 5829 broad.mit.edu GRCh37 12 120659534 120659534 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000267257.7:c.723G>C p.Glu241Asp p.E241D ENST00000267257 NM_001243756.1 241 gaG/gaC 0 Missense_Mutation C 32 PXN SNP 12 C G 119143917 119143917 Broad WDR66 144406 broad.mit.edu GRCh37 12 122389414 122389414 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000288912.4:c.1298G>C p.Ser433Thr p.S433T ENST00000288912 NM_144668.5 433 aGt/aCt 0 Missense_Mutation G 36 WDR66 SNP 12 G C 120873797 120873797 Broad B3GNT4 79369 broad.mit.edu GRCh37 12 122691336 122691336 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000324189.4:c.538G>A p.Asp180Asn p.D180N ENST00000324189 NM_030765.2 180 Gac/Aac 0 Missense_Mutation G 45 B3GNT4 SNP 12 G A 121257289 121257289 Broad CENPJ 55835 broad.mit.edu GRCh37 13 25480452 25480452 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000381884.4:c.1724T>C p.Leu575Ser p.L575S ENST00000381884 NM_018451.4 575 tTa/tCa 0 Missense_Mutation A 13 CENPJ SNP 13 A G 24378452 24378452 Broad GPR137C 283554 broad.mit.edu GRCh37 14 53100270 53100270 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000321662.6:c.890G>T p.Gly297Val p.G297V ENST00000321662 NM_001099652.1 297 gGa/gTa 0 Missense_Mutation G 41 GPR137C SNP 14 G T 52170020 52170020 Broad FERMT2 10979 broad.mit.edu GRCh37 14 53327162 53327162 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000343279.4:c.1645G>T p.Ala549Ser p.A549S ENST00000343279 NM_001134999.1 549 Gcc/Tcc 0 Missense_Mutation C 26 FERMT2 SNP 14 C A 52396912 52396912 Broad WDHD1 11169 broad.mit.edu GRCh37 14 55448322 55448322 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000360586.3:c.1999C>T p.His667Tyr p.H667Y ENST00000360586 NM_007086.3 667 Cac/Tac 0 Missense_Mutation G 46 WDHD1 SNP 14 G A 54518072 54518072 Broad DLGAP5 9787 broad.mit.edu GRCh37 14 55636269 55636269 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000247191.2:c.1396C>G p.Leu466Val p.L466V ENST00000247191 NM_014750.4 466 Ctt/Gtt 0 Missense_Mutation G 33 DLGAP5 SNP 14 G C 54706022 54706022 Broad PAPLN 89932 broad.mit.edu GRCh37 14 73719414 73719414 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000340738.5:c.944T>A p.Met315Lys p.M315K ENST00000340738 NM_173462.3 315 aTg/aAg 0 Missense_Mutation T 51 PAPLN SNP 14 T A 72789167 72789167 Broad VRTN 55237 broad.mit.edu GRCh37 14 74823825 74823825 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000256362.4:c.339G>A p.Leu113= p.L113= ENST00000256362 NM_018228.2 113 ctG/ctA 0 Silent G 46 C14orf115 SNP 14 G A 73893578 73893578 Broad NPAP1 23742 broad.mit.edu GRCh37 15 24924265 24924265 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000329468.2:c.3251C>T p.Ala1084Val p.A1084V ENST00000329468 NM_018958.2 1084 gCt/gTt 0 Missense_Mutation C 28 C15orf2 SNP 15 C T 22475358 22475358 Broad OCA2 4948 broad.mit.edu GRCh37 15 28261303 28261303 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000354638.3:c.837T>C p.Asn279= p.N279= ENST00000354638 NM_000275.2 279 aaT/aaC 0 Silent A 12 OCA2 SNP 15 A G 25934898 25934898 Broad MGA 23269 broad.mit.edu GRCh37 15 42021388 42021388 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000219905.7:c.3684C>G p.Val1228= p.V1228= ENST00000219905 NM_001164273.1 1228 gtC/gtG 0 Silent C 32 MGA SNP 15 C G 39808680 39808680 Broad JMJD7-PLA2G4B 8681 broad.mit.edu GRCh37 15 42137216 42137216 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000382448.4:c.1880G>C p.Ser627Thr p.S627T ENST00000382448 627 aGc/aCc 0 Missense_Mutation G 34 JMJD7-PLA2G4B SNP 15 G C 39924508 39924508 Broad DMXL2 23312 broad.mit.edu GRCh37 15 51773357 51773357 + missense_variant Missense_Mutation SNP G G T rs3751584 byCluster;byFrequency;byHapMap TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000543779.2:c.5946C>A p.His1982Gln p.H1982Q ENST00000543779 1982 caC/caA 0 Missense_Mutation G 40 DMXL2 SNP 15 G T 49560649 49560649 Broad MAN2A2 4122 broad.mit.edu GRCh37 15 91449624 91449624 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000360468.3:c.732G>T p.Glu244Asp p.E244D ENST00000360468 NM_006122.2 244 gaG/gaT 0 Missense_Mutation G 33 MAN2A2 SNP 15 G T 89250628 89250628 Broad MEFV 4210 broad.mit.edu GRCh37 16 3299756 3299756 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000219596.1:c.935G>T p.Ser312Ile p.S312I ENST00000219596 NM_000243.2 312 aGt/aTt 0 Missense_Mutation C 20 MEFV SNP 16 C A 3239757 3239757 Broad ZNF597 146434 broad.mit.edu GRCh37 16 3487014 3487014 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000301744.4:c.685C>T p.Arg229Ter p.R229* ENST00000301744 NM_152457.1 229 Cga/Tga 0 Nonsense_Mutation G 39 ZNF597 SNP 16 G A 3427015 3427015 Broad ACSM5 54988 broad.mit.edu GRCh37 16 20441026 20441026 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000331849.4:c.1028G>T p.Cys343Phe p.C343F ENST00000331849 NM_017888.2 343 tGt/tTt 0 Missense_Mutation G 48 ACSM5 SNP 16 G T 20348527 20348527 Broad NDRG4 65009 broad.mit.edu GRCh37 16 58538166 58538166 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000394282.4:c.392A>T p.Gln131Leu p.Q131L ENST00000394282 NM_001130487.1 131 cAg/cTg 0 Missense_Mutation A 7 NDRG4 SNP 16 A T 57095667 57095667 Broad CMTM4 146223 broad.mit.edu GRCh37 16 66657375 66657375 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000330687.4:c.394C>G p.Leu132Val p.L132V ENST00000330687 NM_181521.2 132 Ctt/Gtt 0 Missense_Mutation G 35 CMTM4 SNP 16 G C 65214876 65214876 Broad TP53 7157 broad.mit.edu GRCh37 17 7578263 7578263 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.586C>T p.Arg196Ter p.R196* ENST00000269305 NM_001126112.2 196 Cga/Tga 0 Nonsense_Mutation G 39 TP53 SNP 17 G A 7518988 7518988 Broad KDM6B 23135 broad.mit.edu GRCh37 17 7754493 7754493 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000254846.5:c.3828C>T p.Thr1276= p.T1276= ENST00000254846 NM_001080424.1 1276 acC/acT 0 Silent C 21 KDM6B SNP 17 C T 7695218 7695218 Broad MYH13 8735 broad.mit.edu GRCh37 17 10216526 10216526 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000418404.3:c.4130C>A p.Thr1377Asn p.T1377N ENST00000418404 1377 aCc/aAc 0 Missense_Mutation G 44 MYH13 SNP 17 G T 10157251 10157251 Broad MYO18A 399687 broad.mit.edu GRCh37 17 27449224 27449224 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000527372.1:c.1047G>A p.Thr349= p.T349= ENST00000527372 NM_078471.3 349 acG/acA 0 Silent C 23 MYO18A SNP 17 C T 24473350 24473350 Broad FBXL20 84961 broad.mit.edu GRCh37 17 37420519 37420519 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000264658.6:c.1112C>A p.Ser371Tyr p.S371Y ENST00000264658 NM_032875.2 371 tCc/tAc 0 Missense_Mutation G 41 FBXL20 SNP 17 G T 34674045 34674045 Broad FZD2 2535 broad.mit.edu GRCh37 17 42636571 42636571 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000315323.3:c.1515G>C p.Pro505= p.P505= ENST00000315323 NM_001466.3 505 ccG/ccC 0 Silent G 40 FZD2 SNP 17 G C 39992097 39992097 Broad MYCBPAP 84073 broad.mit.edu GRCh37 17 48603431 48603432 + missense_variant Missense_Mutation DNP CC CC AT novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000323776.5:c.2101_2102delinsAT p.Pro701Ile p.P701I ENST00000323776 NM_032133.4 701 CCc/ATc 0 Missense_Mutation CC 26 MYCBPAP DNP 17 CC AT 45958431 45958430 Broad PSMC5 5705 broad.mit.edu GRCh37 17 61908429 61908429 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000310144.6:c.713C>T p.Ala238Val p.A238V ENST00000310144 NM_002805.5 238 gCa/gTa 0 Missense_Mutation C 25 PSMC5 SNP 17 C T 59262161 59262161 Broad ZNF521 25925 broad.mit.edu GRCh37 18 22804915 22804915 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000361524.3:c.2967C>A p.Asn989Lys p.N989K ENST00000361524 NM_015461.2 989 aaC/aaA 0 Missense_Mutation G 36 ZNF521 SNP 18 G T 21058913 21058913 Broad NOTCH3 4854 broad.mit.edu GRCh37 19 15281145 15281145 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000263388.2:c.5111T>G p.Met1704Arg p.M1704R ENST00000263388 NM_000435.2 1704 aTg/aGg 0 Missense_Mutation A 8 NOTCH3 SNP 19 A C 15142145 15142145 Broad C19orf55 148137 broad.mit.edu GRCh37 19 36250358 36250358 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000544099.1:c.95C>A p.Thr32Asn p.T32N ENST00000544099 32 aCc/aAc 0 Missense_Mutation C 18 C19orf55 SNP 19 C A 40942198 40942198 Broad NPHS1 4868 broad.mit.edu GRCh37 19 36342473 36342473 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000378910.5:c.160G>T p.Gly54Trp p.G54W ENST00000378910 NM_004646.3 54 Ggg/Tgg 0 Missense_Mutation C 21 NPHS1 SNP 19 C A 41034313 41034313 Broad ZNF567 163081 broad.mit.edu GRCh37 19 37210566 37210566 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000585696.1:c.847T>G p.Cys283Gly p.C283G ENST00000585696 283 Tgt/Ggt 0 Missense_Mutation T 51 ZNF567 SNP 19 T G 41902406 41902406 Broad ZNF227 7770 broad.mit.edu GRCh37 19 44739680 44739680 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000313040.7:c.1097A>C p.Asn366Thr p.N366T ENST00000313040 NM_182490.1 366 aAt/aCt 0 Missense_Mutation A 4 ZNF227 SNP 19 A C 49431520 49431520 Broad PLA2G4C 8605 broad.mit.edu GRCh37 19 48556376 48556376 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000599111.1:c.1488C>T p.Tyr496= p.Y496= ENST00000599111 NM_003706.2 496 taC/taT 0 Silent G 40 PLA2G4C SNP 19 G A 53248188 53248188 Broad SIGLEC10 89790 broad.mit.edu GRCh37 19 51917743 51917743 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000356298.5:c.1642T>G p.Phe548Val p.F548V ENST00000356298 NM_033130.4 548 Ttc/Gtc 0 Missense_Mutation A 4 SIGLEC10 SNP 19 A C 56609555 56609555 Broad APOB 338 broad.mit.edu GRCh37 2 21230871 21230871 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000233242.1:c.8869T>A p.Phe2957Ile p.F2957I ENST00000233242 NM_000384.2 2957 Ttt/Att 0 Missense_Mutation A 3 APOB SNP 2 A T 21084376 21084376 Broad PRKD3 23683 broad.mit.edu GRCh37 2 37509753 37509753 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000379066.1:c.920T>C p.Phe307Ser p.F307S ENST00000379066 307 tTc/tCc 0 Missense_Mutation A 9 PRKD3 SNP 2 A G 37363257 37363257 Broad FAM161A 84140 broad.mit.edu GRCh37 2 62066963 62066963 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000404929.1:c.1176A>T p.Leu392Phe p.L392F ENST00000404929 NM_001201543.1 392 ttA/ttT 0 Missense_Mutation T 57 FAM161A SNP 2 T A 61920467 61920467 Broad ANKRD36 375248 broad.mit.edu GRCh37 2 97779626 97779627 + stop_gained Nonsense_Mutation DNP CC CC GT novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000420699.2:c.150_151delinsGT p.Tyr50_Leu51delinsTer p.Y50_L51delins* ENST00000420699 NM_001164315.1 50 taCCtt/taGTtt 0 Nonsense_Mutation CC 18 ANKRD36 DNP 2 CC GT 97143354 97143353 Broad TMEM87B 84910 broad.mit.edu GRCh37 2 112847248 112847248 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000283206.4:c.985C>G p.Leu329Val p.L329V ENST00000283206 NM_032824.2 329 Cta/Gta 0 Missense_Mutation C 32 TMEM87B SNP 2 C G 112563719 112563719 Broad LRP1B 53353 broad.mit.edu GRCh37 2 141359112 141359112 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000389484.3:c.6896A>T p.Asp2299Val p.D2299V ENST00000389484 NM_018557.2 2299 gAc/gTc 0 Missense_Mutation T 58 LRP1B SNP 2 T A 141075582 141075582 Broad ALS2CR12 130540 broad.mit.edu GRCh37 2 202208981 202208981 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000405148.2:c.374A>T p.Asn125Ile p.N125I ENST00000405148 NM_139163.2 125 aAc/aTc 0 Missense_Mutation T 60 ALS2CR12 SNP 2 T A 201917226 201917226 Broad MAP2 4133 broad.mit.edu GRCh37 2 210561680 210561680 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000360351.4:c.4427T>C p.Val1476Ala p.V1476A ENST00000360351 NM_002374.3 1476 gTt/gCt 0 Missense_Mutation T 60 MAP2 SNP 2 T C 210269925 210269925 Broad SNPH 9751 broad.mit.edu GRCh37 20 1285730 1285730 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000381873.3:c.517C>T p.Gln173Ter p.Q173* ENST00000381873 NM_014723.2 173 Cag/Tag 0 Nonsense_Mutation C 21 SNPH SNP 20 C T 1233730 1233730 Broad SUN5 140732 broad.mit.edu GRCh37 20 31577460 31577460 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000356173.3:c.579C>T p.Tyr193= p.Y193= ENST00000356173 NM_080675.3 193 taC/taT 0 Silent G 48 SUN5 SNP 20 G A 31041121 31041121 Broad DIP2A 23181 broad.mit.edu GRCh37 21 47975908 47975908 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000417564.2:c.3402A>C p.Lys1134Asn p.K1134N ENST00000417564 1134 aaA/aaC 0 Missense_Mutation A 1 DIP2A SNP 21 A C 46800336 46800336 Broad USP18 11274 broad.mit.edu GRCh37 22 18640540 18640540 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000215794.7:c.110A>G p.Lys37Arg p.K37R ENST00000215794 NM_017414.3 37 aAg/aGg 0 Missense_Mutation A 3 USP18 SNP 22 A G 17020540 17020540 Broad SMTN 6525 broad.mit.edu GRCh37 22 31487458 31487458 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000358743.1:c.1449C>T p.Asn483= p.N483= ENST00000358743 NM_134270.2 483 aaC/aaT 0 Silent C 18 SMTN SNP 22 C T 29817458 29817458 Broad CRELD2 79174 broad.mit.edu GRCh37 22 50319204 50319204 + splice_region_variant,synonymous_variant Splice_Region SNP T T A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000404488.3:c.1155T>A p.Ala385= p.A385= ENST00000404488 NM_001135101.1 385 gcT/gcA 0 Silent T 55 CRELD2 SNP 22 T A 48705208 48705208 Broad TBC1D5 9779 broad.mit.edu GRCh37 3 17202461 17202461 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000446818.2:c.2448C>A p.Asp816Glu p.D816E ENST00000446818 NM_001134381.1 816 gaC/gaA 0 Missense_Mutation G 48 TBC1D5 SNP 3 G T 17177465 17177465 Broad TRIM71 131405 broad.mit.edu GRCh37 3 32932208 32932208 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000383763.5:c.1512C>A p.Ser504= p.S504= ENST00000383763 NM_001039111.1 504 tcC/tcA 0 Silent C 24 TRIM71 SNP 3 C A 32907212 32907212 Broad WDR6 11180 broad.mit.edu GRCh37 3 49049644 49049644 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000395474.3:c.767C>T p.Thr256Ile p.T256I ENST00000395474 NM_018031.3 256 aCa/aTa 0 Missense_Mutation C 17 WDR6 SNP 3 C T 49024648 49024648 Broad USP4 7375 broad.mit.edu GRCh37 3 49337974 49337974 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000265560.4:c.1438C>T p.Pro480Ser p.P480S ENST00000265560 NM_003363.3 480 Cca/Tca 0 Missense_Mutation G 42 USP4 SNP 3 G A 49312978 49312978 Broad BBX 56987 broad.mit.edu GRCh37 3 107491881 107491881 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000325805.8:c.1313T>C p.Ile438Thr p.I438T ENST00000325805 438 aTt/aCt 0 Missense_Mutation T 52 BBX SNP 3 T C 108974571 108974571 Broad KIAA2018 205717 broad.mit.edu GRCh37 3 113377323 113377323 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000316407.4:c.3206C>T p.Pro1069Leu p.P1069L ENST00000316407 NM_001009899.2 1069 cCt/cTt 0 Missense_Mutation G 35 KIAA2018 SNP 3 G A 114860013 114860013 Broad C3orf70 285382 broad.mit.edu GRCh37 3 184801229 184801229 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000335012.2:c.319A>G p.Lys107Glu p.K107E ENST00000335012 NM_001025266.1 107 Aaa/Gaa 0 Missense_Mutation T 62 C3orf70 SNP 3 T C 186283923 186283923 Broad SEL1L3 23231 broad.mit.edu GRCh37 4 25819787 25819787 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000399878.3:c.1537G>A p.Ala513Thr p.A513T ENST00000399878 NM_015187.3 513 Gca/Aca 0 Missense_Mutation C 26 SEL1L3 SNP 4 C T 25428885 25428885 Broad LIAS 11019 broad.mit.edu GRCh37 4 39469193 39469193 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000261434.3:c.664G>T p.Ala222Ser p.A222S ENST00000261434 NM_006859.3 222 Gca/Tca 0 Missense_Mutation G 34 LIAS SNP 4 G T 39145588 39145588 Broad FRYL 285527 broad.mit.edu GRCh37 4 48559562 48559562 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000358350.4:c.4033G>C p.Val1345Leu p.V1345L ENST00000358350 NM_015030.1 1345 Gtg/Ctg 0 Missense_Mutation C 18 FRYL SNP 4 C G 48254319 48254319 Broad NMU 10874 broad.mit.edu GRCh37 4 56496615 56496615 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000264218.3:c.125T>A p.Leu42Ter p.L42* ENST00000264218 NM_006681.2 42 tTa/tAa 0 Nonsense_Mutation A 13 NMU SNP 4 A T 56191372 56191372 Broad MMRN1 22915 broad.mit.edu GRCh37 4 90816624 90816624 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000394980.1:c.502G>T p.Val168Phe p.V168F ENST00000394980 168 Gtt/Ttt 0 Missense_Mutation G 40 MMRN1 SNP 4 G T 91035647 91035647 Broad ANK2 287 broad.mit.edu GRCh37 4 114208786 114208786 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000357077.4:c.2105C>T p.Ala702Val p.A702V ENST00000357077 NM_001148.4 702 gCa/gTa 0 Missense_Mutation C 25 ANK2 SNP 4 C T 114428235 114428235 Broad IRX1 79192 broad.mit.edu GRCh37 5 3599431 3599431 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000302006.3:c.369C>T p.Phe123= p.F123= ENST00000302006 NM_024337.3 123 ttC/ttT 0 Silent C 30 IRX1 SNP 5 C T 3652431 3652431 Broad PRDM9 56979 broad.mit.edu GRCh37 5 23527255 23527255 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000296682.3:c.2058C>G p.His686Gln p.H686Q ENST00000296682 NM_020227.2 686 caC/caG 0 Missense_Mutation C 17 PRDM9 SNP 5 C G 23563012 23563012 Broad RASGRF2 5924 broad.mit.edu GRCh37 5 80508345 80508345 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000265080.4:c.3317A>T p.Tyr1106Phe p.Y1106F ENST00000265080 NM_006909.2 1106 tAc/tTc 0 Missense_Mutation A 14 RASGRF2 SNP 5 A T 80544101 80544101 Broad MAN2A1 4124 broad.mit.edu GRCh37 5 109103354 109103354 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000261483.4:c.954T>C p.Val318= p.V318= ENST00000261483 NM_002372.2 318 gtT/gtC 0 Silent T 61 MAN2A1 SNP 5 T C 109131253 109131253 Broad SNCAIP 9627 broad.mit.edu GRCh37 5 121761207 121761207 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000261368.8:c.1163C>T p.Pro388Leu p.P388L ENST00000261368 NM_005460.2 388 cCa/cTa 0 Missense_Mutation C 21 SNCAIP SNP 5 C T 121789106 121789106 Broad SCGB3A2 117156 broad.mit.edu GRCh37 5 147261066 147261066 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000296694.4:c.113C>T p.Pro38Leu p.P38L ENST00000296694 NM_054023.4 38 cCt/cTt 0 Missense_Mutation C 24 SCGB3A2 SNP 5 C T 147241259 147241259 Broad PDE6A 5145 broad.mit.edu GRCh37 5 149283226 149283226 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000255266.5:c.1098C>G p.Asp366Glu p.D366E ENST00000255266 NM_000440.2 366 gaC/gaG 0 Missense_Mutation G 36 PDE6A SNP 5 G C 149263419 149263419 Broad RBM22 55696 broad.mit.edu GRCh37 5 150080511 150080511 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000199814.4:c.37C>T p.Gln13Ter p.Q13* ENST00000199814 NM_018047.2 13 Cag/Tag 0 Nonsense_Mutation G 46 RBM22 SNP 5 G A 150060704 150060704 Broad TMEM63B 55362 broad.mit.edu GRCh37 6 44121531 44121531 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000259746.9:c.2061G>A p.Ala687= p.A687= ENST00000259746 687 gcG/gcA 0 Silent G 38 TMEM63B SNP 6 G A 44229509 44229509 Broad GPR116 221395 broad.mit.edu GRCh37 6 46828475 46828475 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000283296.7:c.2356C>T p.Gln786Ter p.Q786* ENST00000283296 NM_001098518.1 786 Caa/Taa 0 Nonsense_Mutation G 47 GPR116 SNP 6 G A 46936434 46936434 Broad COL9A1 1297 broad.mit.edu GRCh37 6 70970367 70970367 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000357250.6:c.1442G>T p.Gly481Val p.G481V ENST00000357250 NM_001851.4 481 gGg/gTg 0 Missense_Mutation C 22 COL9A1 SNP 6 C A 71027088 71027088 Broad DNAH11 8701 broad.mit.edu GRCh37 7 21747382 21747382 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000328843.6:c.6633C>A p.Asn2211Lys p.N2211K ENST00000328843 2211 aaC/aaA 0 Missense_Mutation C 18 DNAH11 SNP 7 C A 21713907 21713907 Broad EGFR 1956 broad.mit.edu GRCh37 7 55241699 55241699 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000275493.2:c.2147A>G p.Lys716Arg p.K716R ENST00000275493 NM_005228.3 716 aAa/aGa 0 Missense_Mutation A 1 EGFR SNP 7 A G 55209193 55209193 Broad TMEM248 55069 broad.mit.edu GRCh37 7 66410044 66410044 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000341567.4:c.241G>C p.Asp81His p.D81H ENST00000341567 NM_017994.4 81 Gac/Cac 0 Missense_Mutation G 37 C7orf42 SNP 7 G C 66047479 66047479 Broad IMMP2L 83943 broad.mit.edu GRCh37 7 110303729 110303729 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000405709.2:c.457C>G p.Pro153Ala p.P153A ENST00000405709 NM_032549.3 153 Cca/Gca 0 Missense_Mutation G 43 IMMP2L SNP 7 G C 110090965 110090965 Broad PLXNA4 91584 broad.mit.edu GRCh37 7 131825497 131825497 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000359827.3:c.5299A>G p.Thr1767Ala p.T1767A ENST00000359827 1767 Aca/Gca 0 Missense_Mutation T 59 PLXNA4 SNP 7 T C 131476037 131476037 Broad ARHGEF10 9639 broad.mit.edu GRCh37 8 1808212 1808212 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000349830.3:c.343G>A p.Glu115Lys p.E115K ENST00000349830 NM_014629.2 115 Gag/Aag 0 Missense_Mutation G 41 ARHGEF10 SNP 8 G A 1795619 1795619 Broad TNFRSF10A 8797 broad.mit.edu GRCh37 8 23069637 23069637 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000221132.3:c.395G>T p.Cys132Phe p.C132F ENST00000221132 NM_003844.3 132 tGt/tTt 0 Missense_Mutation C 17 TNFRSF10A SNP 8 C A 23125582 23125582 Broad NEFL 4747 broad.mit.edu GRCh37 8 24813902 24813902 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000221169.5:n.723A>G *241* ENST00000221169 0 Missense_Mutation T 57 NEFL SNP 8 T C 24869819 24869819 Broad ADAM2 2515 broad.mit.edu GRCh37 8 39694697 39694697 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000265708.4:c.90G>A p.Pro30= p.P30= ENST00000265708 NM_001464.4 30 ccG/ccA 0 Silent C 23 ADAM2 SNP 8 C T 39813854 39813854 Broad RP1 6101 broad.mit.edu GRCh37 8 55542673 55542673 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000220676.1:c.6231G>T p.Gln2077His p.Q2077H ENST00000220676 NM_006269.1 2077 caG/caT 0 Missense_Mutation G 35 RP1 SNP 8 G T 55705226 55705226 Broad RAD21 5885 broad.mit.edu GRCh37 8 117869611 117869611 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000297338.2:c.583T>C p.Ser195Pro p.S195P ENST00000297338 NM_006265.2 195 Tct/Cct 0 Missense_Mutation A 10 RAD21 SNP 8 A G 117938792 117938792 Broad DEPTOR 64798 broad.mit.edu GRCh37 8 120977615 120977615 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000286234.5:c.569G>A p.Cys190Tyr p.C190Y ENST00000286234 NM_022783.2 190 tGc/tAc 0 Missense_Mutation G 46 DEPDC6 SNP 8 G A 121046796 121046796 Broad PARP10 84875 broad.mit.edu GRCh37 8 145058517 145058517 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000313028.7:c.1541G>C p.Cys514Ser p.C514S ENST00000313028 NM_032789.3 514 tGc/tCc 0 Missense_Mutation C 25 PARP10 SNP 8 C G 145130505 145130505 Broad TTC39B 158219 broad.mit.edu GRCh37 9 15225947 15225947 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000512701.2:c.339G>C p.Ala113= p.A113= ENST00000512701 113 gcG/gcC 0 Silent C 27 TTC39B SNP 9 C G 15215947 15215947 Broad CCL27 10850 broad.mit.edu GRCh37 9 34662602 34662602 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000259631.4:c.29T>C p.Leu10Pro p.L10P ENST00000259631 NM_006664.2 10 cTc/cCc 0 Missense_Mutation A 11 CCL27 SNP 9 A G 34652602 34652602 Broad CNTRL 11064 broad.mit.edu GRCh37 9 123922479 123922479 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000373855.1:c.4988T>C p.Ile1663Thr p.I1663T ENST00000373855 1663 aTt/aCt 0 Missense_Mutation T 52 CEP110 SNP 9 T C 122962300 122962300 Broad MXRA5 25878 broad.mit.edu GRCh37 X 3261695 3261695 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000217939.6:c.180C>G p.Ile60Met p.I60M ENST00000217939 NM_015419.3 60 atC/atG 0 Missense_Mutation G 45 MXRA5 SNP 23 G C 3271695 3271695 Broad NDUFB11 54539 broad.mit.edu GRCh37 X 47003934 47003934 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000276062.8:c.145C>A p.Pro49Thr p.P49T ENST00000276062 NM_019056.6 49 Cca/Aca 0 Missense_Mutation G 43 NDUFB11 SNP 23 G T 46888878 46888878 Broad TFE3 7030 broad.mit.edu GRCh37 X 48895773 48895773 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000315869.7:c.729G>A p.Ala243= p.A243= ENST00000315869 NM_006521.4 243 gcG/gcA 0 Silent C 27 TFE3 SNP 23 C T 48782717 48782717 Broad CACNA1F 778 broad.mit.edu GRCh37 X 49067058 49067058 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000376265.2:c.4510G>T p.Ala1504Ser p.A1504S ENST00000376265 NM_005183.2 1504 Gcc/Tcc 0 Missense_Mutation C 26 CACNA1F SNP 23 C A 48954002 48954002 Broad HUWE1 10075 broad.mit.edu GRCh37 X 53591535 53591535 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000342160.3:c.7029G>T p.Gln2343His p.Q2343H ENST00000342160 2343 caG/caT 0 Missense_Mutation C 24 HUWE1 SNP 23 C A 53608260 53608260 Broad PHF8 23133 broad.mit.edu GRCh37 X 54014376 54014376 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000357988.5:c.1840A>G p.Thr614Ala p.T614A ENST00000357988 NM_001184896.1 614 Acg/Gcg 0 Missense_Mutation T 57 PHF8 SNP 23 T C 54031101 54031101 Broad ZXDA 7789 broad.mit.edu GRCh37 X 57935681 57935681 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000358697.4:c.1174G>A p.Ala392Thr p.A392T ENST00000358697 NM_007156.4 392 Gcg/Acg 0 Missense_Mutation C 27 ZXDA SNP 23 C T 57952406 57952406 Broad HEPH 9843 broad.mit.edu GRCh37 X 65423371 65423371 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000519389.1:c.2405C>A p.Pro802His p.P802H ENST00000519389 802 cCt/cAt 0 Missense_Mutation C 24 HEPH SNP 23 C A 65340096 65340096 Broad OPHN1 4983 broad.mit.edu GRCh37 X 67502950 67502950 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000355520.5:c.260T>C p.Phe87Ser p.F87S ENST00000355520 NM_002547.2 87 tTc/tCc 0 Missense_Mutation A 9 OPHN1 SNP 23 A G 67419675 67419675 Broad POF1B 79983 broad.mit.edu GRCh37 X 84570724 84570724 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000262753.4:c.871T>G p.Ser291Ala p.S291A ENST00000262753 NM_024921.3 291 Tct/Gct 0 Missense_Mutation A 10 POF1B SNP 23 A C 84457380 84457380 Broad DIAPH2 1730 broad.mit.edu GRCh37 X 96327978 96327978 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000324765.8:c.2089G>T p.Gly697Trp p.G697W ENST00000324765 697 Ggg/Tgg 0 Missense_Mutation G 47 DIAPH2 SNP 23 G T 96214634 96214634 Broad ZMAT1 84460 broad.mit.edu GRCh37 X 101138612 101138612 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000372782.3:c.1787G>A p.Arg596Gln p.R596Q ENST00000372782 NM_001011657.3 596 cGa/cAa 0 Missense_Mutation C 31 ZMAT1 SNP 23 C T 101025268 101025268 Broad ZBTB33 10009 broad.mit.edu GRCh37 X 119387890 119387890 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000326624.2:c.620C>A p.Thr207Asn p.T207N ENST00000326624 NM_006777.3 207 aCt/aAt 0 Missense_Mutation C 20 ZBTB33 SNP 23 C A 119271918 119271918 Broad SMARCA1 6594 broad.mit.edu GRCh37 X 128614708 128614708 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown x x x ENST00000371122.4:c.2412T>C p.Ile804= p.I804= ENST00000371122 NM_003069.3 804 atT/atC 0 Silent A 9 SMARCA1 SNP 23 A G 128442389 128442389 Broad WARS 7453 broad.mit.edu GRCh37 14 100803369 100803416 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL GGCTGTGGGCCCTTGGGGTTCCCTGCTCACCTTCCTGATCTGCTCGAG GGCTGTGGGCCCTTGGGGTTCCCTGCTCACCTTCCTGATCTGCTCGAG - novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000355338.2:c.1237_1254+30del p.X413_splice ENST00000355338 NM_173701.1 413 0 Splice_Site_Del GGCTGTGGGCCCTTGGGGTTCCCTGCTCACCTTCCTGATCTGCTCGAG 39 WARS DEL 14 - GGCTGTGGGCCCTTGGGGTTCCCTGCTCACCTTCCTGATCTGCTCGAG 99873169 99873122 Broad HERC1 8925 broad.mit.edu GRCh37 15 63950863 63950889 + inframe_deletion In_Frame_Del DEL TGCTCTCCTAACGTTATTCTCCCAGAG TGCTCTCCTAACGTTATTCTCCCAGAG - novel Unknown TCGA-24-2289-01 TCGA-24-2289-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000443617.2:c.9453_9479del p.Ser3152_Gln3160del p.S3152_Q3160del ENST00000443617 NM_003922.3 3151 tcCTCTGGGAGAATAACGTTAGGAGAGCAg/tcg 0 In_Frame_Del TGCTCTCCTAACGTTATTCTCCCAGAG 55 HERC1 DEL 15 - TGCTCTCCTAACGTTATTCTCCCAGAG 61737942 61737916 Broad TNFRSF8 943 broad.mit.edu GRCh37 1 12164533 12164533 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000263932.2:c.366T>C p.Cys122= p.C122= ENST00000263932 NM_001243.3 122 tgT/tgC 0 Silent T 59 TNFRSF8 SNP 1 T C 12087120 12087120 Broad COL16A1 1307 broad.mit.edu GRCh37 1 32165426 32165426 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000373672.3:c.254C>A p.Thr85Asn p.T85N ENST00000373672 NM_001856.3 85 aCc/aAc 0 Missense_Mutation G 44 COL16A1 SNP 1 G T 31938013 31938013 Broad KIAA1522 57648 broad.mit.edu GRCh37 1 33236238 33236238 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000401073.2:c.1458C>A p.Gly486= p.G486= ENST00000401073 NM_020888.2 486 ggC/ggA 0 Silent C 26 KIAA1522 SNP 1 C A 33008825 33008825 Broad GPBP1L1 60313 broad.mit.edu GRCh37 1 46120314 46120314 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000355105.3:c.378C>T p.Ser126= p.S126= ENST00000355105 NM_021639.4 126 tcC/tcT 0 Silent G 43 GPBP1L1 SNP 1 G A 45892901 45892901 Broad LRRC8C 84230 broad.mit.edu GRCh37 1 90180366 90180366 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000370454.4:c.2237C>T p.Pro746Leu p.P746L ENST00000370454 NM_032270.4 746 cCg/cTg 0 Missense_Mutation C 23 LRRC8C SNP 1 C T 89952954 89952954 Broad TARS2 80222 broad.mit.edu GRCh37 1 150470084 150470084 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369064.3:c.1099C>T p.His367Tyr p.H367Y ENST00000369064 NM_025150.4 367 Cac/Tac 0 Missense_Mutation C 25 TARS2 SNP 1 C T 148736708 148736708 Broad USF1 7391 broad.mit.edu GRCh37 1 161011479 161011479 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000368021.3:c.434C>T p.Ser145Leu p.S145L ENST00000368021 NM_007122.4 145 tCa/tTa 0 Missense_Mutation G 45 USF1 SNP 1 G A 159278103 159278103 Broad AHCTF1 25909 broad.mit.edu GRCh37 1 247025452 247025452 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000326225.3:c.3571G>T p.Ala1191Ser p.A1191S ENST00000326225 NM_015446.4 1191 Gct/Tct 0 Missense_Mutation C 28 AHCTF1 SNP 1 C A 245092075 245092075 Broad OR51G1 79324 broad.mit.edu GRCh37 11 4944909 4944909 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000321961.2:c.661G>A p.Ala221Thr p.A221T ENST00000321961 NM_001005237.1 221 Gcc/Acc 0 Missense_Mutation C 27 OR51G1 SNP 11 C T 4901485 4901485 Broad NLRP14 338323 broad.mit.edu GRCh37 11 7064450 7064450 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000299481.4:c.1193C>A p.Ala398Asp p.A398D ENST00000299481 NM_176822.3 398 gCt/gAt 0 Missense_Mutation C 28 NLRP14 SNP 11 C A 7021026 7021026 Broad EIF3M 10480 broad.mit.edu GRCh37 11 32608572 32608572 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000531120.1:c.57T>G p.Arg19= p.R19= ENST00000531120 NM_006360.4 19 cgT/cgG 0 Silent T 59 EIF3M SNP 11 T G 32565148 32565148 Broad OR4B1 119765 broad.mit.edu GRCh37 11 48239032 48239032 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000309562.2:c.671G>C p.Arg224Thr p.R224T ENST00000309562 NM_001005470.1 224 aGg/aCg 0 Missense_Mutation G 35 OR4B1 SNP 11 G C 48195608 48195608 Broad OR5M10 390167 broad.mit.edu GRCh37 11 56345094 56345094 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000526812.2:c.104A>C p.Tyr35Ser p.Y35S ENST00000526812 NM_001004741.1 35 tAc/tCc 0 Missense_Mutation T 57 OR5M10 SNP 11 T G 56101670 56101670 Broad TAF6L 10629 broad.mit.edu GRCh37 11 62554166 62554166 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000294168.3:c.1267C>T p.Pro423Ser p.P423S ENST00000294168 NM_006473.3 423 Cca/Tca 0 Missense_Mutation C 26 TAF6L SNP 11 C T 62310742 62310742 Broad DDX6 1656 broad.mit.edu GRCh37 11 118627891 118627891 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 T C T T Unknown Valid Somatic x x 454_PCR_WGA x ENST00000264018.4:c.1099A>G p.Lys367Glu p.K367E ENST00000264018 NM_004397.4 367 Aaa/Gaa 0 Missense_Mutation T 61 DDX6 SNP 11 T C 118133101 118133101 Broad DCD 117159 broad.mit.edu GRCh37 12 55038511 55038511 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000293371.6:c.319G>C p.Asp107His p.D107H ENST00000293371 NM_053283.2 107 Gac/Cac 0 Missense_Mutation C 29 DCD SNP 12 C G 53324778 53324778 Broad TBX5 6910 broad.mit.edu GRCh37 12 114793778 114793778 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000310346.4:c.1116G>A p.Ser372= p.S372= ENST00000310346 NM_000192.3 372 tcG/tcA 0 Silent C 23 TBX5 SNP 12 C T 113278161 113278161 Broad MTUS2 23281 broad.mit.edu GRCh37 13 29933456 29933456 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000431530.3:c.2993C>A p.Pro998Gln p.P998Q ENST00000431530 NM_001033602.2 998 cCg/cAg 0 Missense_Mutation C 23 MTUS2 SNP 13 C A 28831456 28831456 Broad THSD1 55901 broad.mit.edu GRCh37 13 52952086 52952086 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000258613.4:c.2019G>A p.Leu673= p.L673= ENST00000258613 NM_018676.3 673 ctG/ctA 0 Silent C 29 THSD1 SNP 13 C T 51850087 51850087 Broad SCEL 8796 broad.mit.edu GRCh37 13 78137968 78137968 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000349847.3:c.224A>G p.Lys75Arg p.K75R ENST00000349847 NM_144777.2 75 aAa/aGa 0 Missense_Mutation A 1 SCEL SNP 13 A G 77035969 77035969 Broad NDFIP2 54602 broad.mit.edu GRCh37 13 80095031 80095031 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000218652.7:c.408G>A p.Ala136= p.A136= ENST00000218652 NM_001161407.1 136 gcG/gcA 0 Silent G 40 NDFIP2 SNP 13 G A 78993032 78993032 Broad SMOC1 64093 broad.mit.edu GRCh37 14 70346460 70346460 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000361956.3:c.65C>T p.Ser22Phe p.S22F ENST00000361956 22 tCc/tTc 0 Missense_Mutation C 30 SMOC1 SNP 14 C T 69416213 69416213 Broad YLPM1 56252 broad.mit.edu GRCh37 14 75265137 75265137 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000325680.7:c.3137G>A p.Ser1046Asn p.S1046N ENST00000325680 NM_019589.2 1046 aGt/aAt 0 Missense_Mutation G 36 YLPM1 SNP 14 G A 74334890 74334890 Broad CGNL1 84952 broad.mit.edu GRCh37 15 57810602 57810602 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000281282.5:c.2622A>T p.Arg874= p.R874= ENST00000281282 NM_032866.4 874 cgA/cgT 0 Silent A 10 CGNL1 SNP 15 A T 55597894 55597894 Broad DCUN1D3 123879 broad.mit.edu GRCh37 16 20871561 20871561 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000324344.4:c.562C>A p.Gln188Lys p.Q188K ENST00000324344 NM_173475.2 188 Cag/Aag 0 Missense_Mutation G 45 DCUN1D3 SNP 16 G T 20779062 20779062 Broad ABR 29 broad.mit.edu GRCh37 17 1028661 1028661 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000302538.5:c.103G>A p.Glu35Lys p.E35K ENST00000302538 NM_021962.3 35 Gag/Aag 0 Missense_Mutation C 29 ABR SNP 17 C T 975411 975411 Broad TP53 7157 broad.mit.edu GRCh37 17 7577124 7577124 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.814G>A p.Val272Met p.V272M ENST00000269305 NM_001126112.2 272 Gtg/Atg 0 Missense_Mutation C 18 TP53 SNP 17 C T 7517849 7517849 Broad ALDH3A1 218 broad.mit.edu GRCh37 17 19644431 19644431 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 A C A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000457500.2:c.782T>G p.Val261Gly p.V261G ENST00000457500 NM_001135168.1 261 gTg/gGg 0 Missense_Mutation A 6 ALDH3A1 SNP 17 A C 19585023 19585023 Broad TMEM97 27346 broad.mit.edu GRCh37 17 26646324 26646324 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000226230.6:c.59G>T p.Ser20Ile p.S20I ENST00000226230 NM_014573.2 20 aGc/aTc 0 Missense_Mutation G 34 TMEM97 SNP 17 G T 23670451 23670451 Broad SPATA32 124783 broad.mit.edu GRCh37 17 43333263 43333263 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000331780.4:c.286G>C p.Glu96Gln p.E96Q ENST00000331780 NM_152343.2 96 Gag/Cag 0 Missense_Mutation C 30 C17orf46 SNP 17 C G 40689046 40689046 Broad SLC26A11 284129 broad.mit.edu GRCh37 17 78222999 78222999 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000361193.3:c.1569C>T p.Ser523= p.S523= ENST00000361193 NM_001166347.1 523 agC/agT 0 Silent C 25 SLC26A11 SNP 17 C T 75837594 75837594 Broad SHC2 25759 broad.mit.edu GRCh37 19 425176 425176 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000264554.6:c.1230G>C p.Glu410Asp p.E410D ENST00000264554 NM_012435.2 410 gaG/gaC 0 Missense_Mutation C 24 SHC2 SNP 19 C G 376176 376176 Broad RGL3 57139 broad.mit.edu GRCh37 19 11508184 11508184 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000393423.3:c.1854G>A p.Ser618= p.S618= ENST00000393423 618 tcG/tcA 0 Silent C 23 RGL3 SNP 19 C T 11369184 11369184 Broad ZNF471 57573 broad.mit.edu GRCh37 19 57037056 57037056 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000308031.5:c.1620G>A p.Glu540= p.E540= ENST00000308031 NM_020813.2 540 gaG/gaA 0 Silent G 33 ZNF471 SNP 19 G A 61728868 61728868 Broad RSAD2 91543 broad.mit.edu GRCh37 2 7035946 7035946 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000382040.3:c.959C>T p.Pro320Leu p.P320L ENST00000382040 NM_080657.4 320 cCt/cTt 0 Missense_Mutation C 24 RSAD2 SNP 2 C T 6953397 6953397 Broad ZNF513 130557 broad.mit.edu GRCh37 2 27600891 27600891 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000323703.6:c.1147A>T p.Ser383Cys p.S383C ENST00000323703 NM_144631.5 383 Agt/Tgt 0 Missense_Mutation T 55 ZNF513 SNP 2 T A 27454395 27454395 Broad PLB1 151056 broad.mit.edu GRCh37 2 28824827 28824827 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000327757.5:c.2669G>T p.Arg890Ile p.R890I ENST00000327757 NM_153021.4 890 aGa/aTa 0 Missense_Mutation G 33 PLB1 SNP 2 G T 28678331 28678331 Broad GMCL1 64395 broad.mit.edu GRCh37 2 70081984 70081984 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000282570.3:c.964G>A p.Glu322Lys p.E322K ENST00000282570 NM_178439.3 322 Gaa/Aaa 0 Missense_Mutation G 45 GMCL1 SNP 2 G A 69935488 69935488 Broad BIN1 274 broad.mit.edu GRCh37 2 127819705 127819705 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000316724.5:c.843C>G p.Val281= p.V281= ENST00000316724 NM_139343.2 281 gtC/gtG 0 Silent G 45 BIN1 SNP 2 G C 127536175 127536175 Broad TTLL4 9654 broad.mit.edu GRCh37 2 219616467 219616467 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000392102.1:c.2914G>A p.Glu972Lys p.E972K ENST00000392102 NM_014640.4 972 Gag/Aag 0 Missense_Mutation G 33 TTLL4 SNP 2 G A 219324711 219324711 Broad TTLL4 9654 broad.mit.edu GRCh37 2 219617533 219617533 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000392102.1:c.3024G>T p.Arg1008= p.R1008= ENST00000392102 NM_014640.4 1008 cgG/cgT 0 Silent G 41 TTLL4 SNP 2 G T 219325777 219325777 Broad TUBB1 81027 broad.mit.edu GRCh37 20 57598984 57598984 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000217133.1:c.502A>T p.Ser168Cys p.S168C ENST00000217133 NM_030773.3 168 Agc/Tgc 0 Missense_Mutation A 7 TUBB1 SNP 20 A T 57032379 57032379 Broad DSCAM 1826 broad.mit.edu GRCh37 21 41559851 41559851 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000400454.1:c.2617G>T p.Glu873Ter p.E873* ENST00000400454 NM_001271534.1 873 Gag/Tag 0 Nonsense_Mutation C 30 DSCAM SNP 21 C A 40481721 40481721 Broad CRYBB1 1414 broad.mit.edu GRCh37 22 26997971 26997971 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000215939.2:c.447C>A p.His149Gln p.H149Q ENST00000215939 NM_001887.3 149 caC/caA 0 Missense_Mutation G 48 CRYBB1 SNP 22 G T 25327971 25327971 Broad EPHB1 2047 broad.mit.edu GRCh37 3 134514475 134514475 + start_lost Translation_Start_Site SNP T T A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000398015.3:c.2T>A p.Met1? p.M1? ENST00000398015 NM_004441.4 1 aTg/aAg 0 Missense_Mutation T 51 EPHB1 SNP 3 T A 135997165 135997165 Broad BANK1 55024 broad.mit.edu GRCh37 4 102750969 102750969 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000322953.4:c.75T>G p.Asn25Lys p.N25K ENST00000322953 NM_017935.4 25 aaT/aaG 0 Missense_Mutation T 49 BANK1 SNP 4 T G 102969992 102969992 Broad FAT1 2195 broad.mit.edu GRCh37 4 187540941 187540941 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000441802.2:c.6799G>T p.Val2267Leu p.V2267L ENST00000441802 NM_005245.3 2267 Gta/Tta 0 Missense_Mutation C 20 FAT1 SNP 4 C A 187777935 187777935 Broad GZMA 3001 broad.mit.edu GRCh37 5 54401388 54401388 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000274306.6:c.157A>T p.Ile53Phe p.I53F ENST00000274306 NM_006144.3 53 Atc/Ttc 0 Missense_Mutation A 8 GZMA SNP 5 A T 54437145 54437145 Broad PCDHGA3 56112 broad.mit.edu GRCh37 5 140725790 140725790 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000253812.6:c.2190C>T p.Gly730= p.G730= ENST00000253812 NM_018916.3 730 ggC/ggT 0 Silent C 27 PCDHGA3 SNP 5 C T 140705974 140705974 Broad PCDH1 5097 broad.mit.edu GRCh37 5 141248323 141248323 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000287008.3:c.714G>A p.Leu238= p.L238= ENST00000287008 NM_032420.3 238 ctG/ctA 0 Silent C 21 PCDH1 SNP 5 C T 141228507 141228507 Broad ADAM19 8728 broad.mit.edu GRCh37 5 156917401 156917401 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000257527.4:c.2157G>T p.Leu719= p.L719= ENST00000257527 NM_033274.4 719 ctG/ctT 0 Silent C 29 ADAM19 SNP 5 C A 156849979 156849979 Broad STK10 6793 broad.mit.edu GRCh37 5 171520431 171520431 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000176763.5:c.1539C>A p.Gly513= p.G513= ENST00000176763 NM_005990.3 513 ggC/ggA 0 Silent G 34 STK10 SNP 5 G T 171453036 171453036 Broad SIMC1 375484 broad.mit.edu GRCh37 5 175740768 175740768 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000341199.6:c.507C>G p.Thr169= p.T169= ENST00000341199 NM_198567.4 169 acC/acG 0 Silent C 22 C5orf25 SNP 5 C G 175673374 175673374 Broad SLC17A1 6568 broad.mit.edu GRCh37 6 25826832 25826832 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000244527.4:c.64T>A p.Leu22Met p.L22M ENST00000244527 NM_005074.3 22 Ttg/Atg 0 Missense_Mutation A 4 SLC17A1 SNP 6 A T 25934811 25934811 Broad SCAND3 114821 broad.mit.edu GRCh37 6 28554487 28554487 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000452236.2:c.8C>T p.Ala3Val p.A3V ENST00000452236 NM_052923.1 3 gCa/gTa 0 Missense_Mutation G 46 SCAND3 SNP 6 G A 28662466 28662466 Broad UNC5CL 222643 broad.mit.edu GRCh37 6 41002717 41002717 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000244565.3:c.97T>C p.Trp33Arg p.W33R ENST00000244565 NM_173561.2 33 Tgg/Cgg 0 Missense_Mutation A 8 UNC5CL SNP 6 A G 41110695 41110695 Broad TTBK1 84630 broad.mit.edu GRCh37 6 43230673 43230673 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000259750.4:c.1571G>A p.Ser524Asn p.S524N ENST00000259750 NM_032538.1 524 aGc/aAc 0 Missense_Mutation G 34 TTBK1 SNP 6 G A 43338651 43338651 Broad DST 667 broad.mit.edu GRCh37 6 56497759 56497759 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000244364.6:c.2087A>G p.Asp696Gly p.D696G ENST00000244364 NM_015548.4 696 gAt/gGt 0 Missense_Mutation T 50 DST SNP 6 T C 56605718 56605718 Broad DST 667 broad.mit.edu GRCh37 6 56535540 56535540 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000312431.6:c.480G>T p.Trp160Cys p.W160C ENST00000312431 160 tgG/tgT 0 Missense_Mutation C 30 DST SNP 6 C A 56643499 56643499 Broad L3MBTL3 84456 broad.mit.edu GRCh37 6 130389525 130389525 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000529410.1:c.1051G>T p.Ala351Ser p.A351S ENST00000529410 351 Gct/Tct 0 Missense_Mutation G 34 L3MBTL3 SNP 6 G T 130431218 130431218 Broad ISPD 729920 broad.mit.edu GRCh37 7 16445915 16445915 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000407010.2:c.305T>G p.Met102Arg p.M102R ENST00000407010 NM_001101426.3 102 aTg/aGg 0 Missense_Mutation A 8 LOC729920 SNP 7 A C 16412440 16412440 Broad TRRAP 8295 broad.mit.edu GRCh37 7 98513468 98513468 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000359863.4:c.2322C>A p.Leu774= p.L774= ENST00000359863 NM_001244580.1 774 ctC/ctA 0 Silent C 32 TRRAP SNP 7 C A 98351404 98351404 Broad CPA2 1358 broad.mit.edu GRCh37 7 129929521 129929521 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000222481.4:c.1194C>G p.Pro398= p.P398= ENST00000222481 NM_001869.2 398 ccC/ccG 0 Silent C 21 CPA2 SNP 7 C G 129716757 129716757 Broad FBXO16 157574 broad.mit.edu GRCh37 8 28314347 28314347 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000380254.2:c.443A>T p.Glu148Val p.E148V ENST00000380254 NM_172366.3 148 gAg/gTg 0 Missense_Mutation T 54 FBXO16 SNP 8 T A 28370266 28370266 Broad CYP11B2 1585 broad.mit.edu GRCh37 8 143994817 143994817 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000323110.2:c.1005C>T p.Asp335= p.D335= ENST00000323110 NM_000498.3 335 gaC/gaT 0 Silent G 40 CYP11B2 SNP 8 G A 143991819 143991819 Broad DFNB31 25861 broad.mit.edu GRCh37 9 117186763 117186763 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000362057.3:c.1267C>G p.Arg423Gly p.R423G ENST00000362057 NM_001173425.1 423 Cga/Gga 0 Missense_Mutation G 40 DFNB31 SNP 9 G C 116226584 116226584 Broad HUWE1 10075 broad.mit.edu GRCh37 X 53612055 53612055 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000342160.3:c.4918T>A p.Ser1640Thr p.S1640T ENST00000342160 1640 Tct/Act 0 Missense_Mutation A 9 HUWE1 SNP 23 A T 53628780 53628780 Broad PHF8 23133 broad.mit.edu GRCh37 X 54026305 54026305 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 Unknown Unknown Unknown x x x ENST00000357988.5:c.1339G>A p.Glu447Lys p.E447K ENST00000357988 NM_001184896.1 447 Gaa/Aaa 0 Missense_Mutation C 32 PHF8 SNP 23 C T 54043030 54043030 Broad TKTL1 8277 broad.mit.edu GRCh37 X 153556007 153556007 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0886-01 TCGA-13-0886-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369915.3:c.1472C>G p.Ala491Gly p.A491G ENST00000369915 NM_012253.3 491 gCa/gGa 0 Missense_Mutation C 25 TKTL1 SNP 23 C G 153209201 153209201 Broad TP53 7157 genome.wustl.edu GRCh37 17 7577580 7577580 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.701A>G p.Tyr234Cys p.Y234C ENST00000269305 NM_001126112.2 234 tAc/tGc 0 Missense_Mutation T 57 TP53 SNP 17 T C 7518305 7518305 WashU CEP192 55125 genome.wustl.edu GRCh37 18 13056381 13056381 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000506447.1:c.3792G>T p.Arg1264= p.R1264= ENST00000506447 NM_032142.3 1264 cgG/cgT 0 Silent G 44 CEP192 SNP 18 G T 13046381 13046381 WashU NHLRC1 378884 genome.wustl.edu GRCh37 6 18121902 18121902 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000340650.3:c.936G>A p.Leu312= p.L312= ENST00000340650 NM_198586.2 312 ctG/ctA 0 Silent C 29 NHLRC1 SNP 6 T T 18229881 18229881 WashU TUBA3C 7278 genome.wustl.edu GRCh37 13 19748050 19748051 + missense_variant Missense_Mutation DNP CC CC AA novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 CC CC CC AA CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400113.3:c.1305_1306delinsTT p.Gly436Cys p.G436C ENST00000400113 NM_006001.2 435 gtGGgc/gtTTgc 0 Missense CC 22 TUBA3C DNP 13 CC AA 18646051 18646050 WashU SEZ6L 23544 genome.wustl.edu GRCh37 22 26688759 26688759 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000248933.6:c.482C>T p.Thr161Met p.T161M ENST00000248933 161 aCg/aTg 0 Missense_Mutation C 19 SEZ6L SNP 22 C T 25018759 25018759 WashU GTF3A 2971 genome.wustl.edu GRCh37 13 28009711 28009711 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381140.4:c.1075G>A p.Val359Ile p.V359I ENST00000381140 NM_002097.2 359 Gtt/Att 0 Missense_Mutation G 36 GTF3A SNP 13 G A 26907711 26907711 WashU CHN2 1124 genome.wustl.edu GRCh37 7 29440168 29440168 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000222792.6:c.300C>T p.Asn100= p.N100= ENST00000222792 NM_004067.2 100 aaC/aaT 0 Missense_Mutation C 18 CHN2 SNP 7 C T 29406693 29406693 WashU ZCCHC7 84186 genome.wustl.edu GRCh37 9 37304239 37304239 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336755.5:c.709G>C p.Ala237Pro p.A237P ENST00000336755 NM_032226.2 237 Gcc/Ccc 0 Missense_Mutation G 34 ZCCHC7 SNP 9 G C 37294239 37294239 WashU GFAP 2670 genome.wustl.edu GRCh37 17 42991126 42991126 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000586793.1:c.588G>A p.Glu196= p.E196= ENST00000586793 196 gaG/gaA 0 Silent C 32 GFAP SNP 17 C T 40346652 40346652 WashU R3HDML 140902 genome.wustl.edu GRCh37 20 42972127 42972127 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000217043.2:c.491C>A p.Pro164His p.P164H ENST00000217043 NM_178491.3 164 cCc/cAc 0 Missense_Mutation C 22 R3HDML SNP 20 C A 42405541 42405541 WashU TRIM37 4591 genome.wustl.edu GRCh37 17 57128679 57128679 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262294.7:c.1210C>G p.Arg404Gly p.R404G ENST00000262294 NM_015294.3 404 Cgt/Ggt 0 Missense_Mutation G 40 TRIM37 SNP 17 G C 54483461 54483461 WashU MED13 9969 genome.wustl.edu GRCh37 17 60033047 60033047 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000397786.2:c.5776A>C p.Met1926Leu p.M1926L ENST00000397786 NM_005121.2 1926 Atg/Ctg 0 Missense_Mutation T 49 MED13 SNP 17 T G 57387829 57387829 WashU FLNB 2317 genome.wustl.edu GRCh37 3 58109125 58109125 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000490882.1:c.3432G>A p.Glu1144= p.E1144= ENST00000490882 NM_001164317.1 1144 gaG/gaA 0 Silent G 34 FLNB SNP 3 G A 58084165 58084165 WashU SDHAF2 54949 genome.wustl.edu GRCh37 11 61205565 61205565 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000301761.2:c.350A>G p.Asp117Gly p.D117G ENST00000301761 NM_017841.2 117 gAt/gGt 0 Missense_Mutation A 12 SDHAF2 SNP 11 A G 60962141 60962141 WashU ERBB2IP 55914 genome.wustl.edu GRCh37 5 65350083 65350083 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000506030.1:c.2937C>G p.Ile979Met p.I979M ENST00000506030 979 atC/atG 0 Missense_Mutation C 30 ERBB2IP SNP 5 C G 65385839 65385839 WashU SLC9A5 6553 genome.wustl.edu GRCh37 16 67298296 67298296 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299798.11:c.1884G>A p.Ala628= p.A628= ENST00000299798 NM_004594.2 628 gcG/gcA 0 Missense_Mutation G 38 SLC9A5 SNP 16 G A 65855797 65855797 WashU AUTS2 26053 genome.wustl.edu GRCh37 7 70228152 70228152 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342771.4:c.1039G>A p.Glu347Lys p.E347K ENST00000342771 NM_015570.2 347 Gag/Aag 0 Missense_Mutation G 45 AUTS2 SNP 7 G A 69866088 69866088 WashU SLCO5A1 81796 genome.wustl.edu GRCh37 8 70585479 70585479 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260126.4:c.2172T>C p.Gly724= p.G724= ENST00000260126 NM_030958.2 724 ggT/ggC 0 Silent A 2 SLCO5A1 SNP 8 A G 70748033 70748033 WashU CASD1 64921 genome.wustl.edu GRCh37 7 94167156 94167156 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297273.4:c.1216A>G p.Ile406Val p.I406V ENST00000297273 NM_022900.4 406 Att/Gtt 0 Missense_Mutation A 4 CASD1 SNP 7 A G 94005092 94005092 WashU ASNS 440 genome.wustl.edu GRCh37 7 97498311 97498311 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000175506.4:c.158T>C p.Val53Ala p.V53A ENST00000175506 NM_183356.3 53 gTt/gCt 0 Missense_Mutation A 2 ASNS SNP 7 A G 97336247 97336247 WashU RNF19A 25897 genome.wustl.edu GRCh37 8 101299871 101299871 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000519449.1:c.532G>A p.Glu178Lys p.E178K ENST00000519449 NM_015435.4 178 Gaa/Aaa 0 Missense_Mutation C 32 RNF19A SNP 8 C T 101369047 101369047 WashU AHNAK2 113146 genome.wustl.edu GRCh37 14 105413217 105413217 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000333244.5:c.8571G>A p.Lys2857= p.K2857= ENST00000333244 NM_138420.2 2857 aaG/aaA 0 Silent C 32 AHNAK2 SNP 14 C T 104484262 104484262 WashU ABRA 137735 genome.wustl.edu GRCh37 8 107773533 107773533 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311955.3:c.878C>A p.Thr293Asn p.T293N ENST00000311955 NM_139166.4 293 aCc/aAc 0 Missense_Mutation G 44 ABRA SNP 8 G T 107842709 107842709 WashU NPHP1 4867 genome.wustl.edu GRCh37 2 110927403 110927403 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316534.4:c.502G>C p.Val168Leu p.V168L ENST00000316534 168 Gtt/Ctt 0 Missense_Mutation C 20 NPHP1 SNP 2 C G 110284692 110284692 WashU CSMD3 114788 genome.wustl.edu GRCh37 8 113585841 113585841 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297405.5:c.3931A>C p.Thr1311Pro p.T1311P ENST00000297405 NM_198123.1 1311 Act/Cct 0 Missense_Mutation T 57 CSMD3 SNP 8 T G 113655017 113655017 WashU AFAP1L2 84632 genome.wustl.edu GRCh37 10 116060281 116060281 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304129.4:c.1711G>A p.Ala571Thr p.A571T ENST00000304129 NM_001287824.1 571 Gcc/Acc 0 Missense_Mutation C 26 AFAP1L2 SNP 10 C T 116050271 116050271 WashU SLC35F1 222553 genome.wustl.edu GRCh37 6 118606452 118606452 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000360388.4:c.953C>G p.Thr318Arg p.T318R ENST00000360388 NM_001029858.3 318 aCa/aGa 0 Missense_Mutation C 17 SLC35F1 SNP 6 C G 118713145 118713145 WashU ENPP2 5168 genome.wustl.edu GRCh37 8 120629708 120629708 + missense_variant,splice_region_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000259486.6:c.575T>A p.Leu192Gln p.L192Q ENST00000259486 NM_006209.4 192 cTa/cAa 0 Missense_Mutation A 15 ENPP2 SNP 8 A T 120698889 120698889 WashU ROBO3 64221 genome.wustl.edu GRCh37 11 124750383 124750383 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397801.1:c.4028C>T p.Thr1343Met p.T1343M ENST00000397801 NM_022370.3 1343 aCg/aTg 0 Missense_Mutation C 19 ROBO3 SNP 11 C T 124255593 124255593 WashU PCDHA3 56145 genome.wustl.edu GRCh37 5 140182396 140182396 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000522353.2:c.1614C>T p.Arg538= p.R538= ENST00000522353 NM_018906.2 538 cgC/cgT 0 Silent C 27 PCDHA3 SNP 5 C T 140162580 140162580 WashU TCHHL1 126637 genome.wustl.edu GRCh37 1 152059508 152059508 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368806.1:c.650A>T p.Lys217Met p.K217M ENST00000368806 NM_001008536.1 217 aAg/aTg 0 Missense_Mutation T 56 TCHHL1 SNP 1 T A 150326132 150326132 WashU PLEKHG1 57480 genome.wustl.edu GRCh37 6 151055101 151055101 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367328.1:c.284C>G p.Ser95Ter p.S95* ENST00000367328 NM_001029884.1 95 tCa/tGa 0 Nonsense_Mutation C 29 PLEKHG1 SNP 6 C G 151096794 151096794 WashU NUP210L 91181 genome.wustl.edu GRCh37 1 154029383 154029383 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000368559.3:c.3148C>T p.Leu1050Phe p.L1050F ENST00000368559 NM_207308.2 1050 Ctt/Ttt 0 Missense_Mutation G 33 NUP210L SNP 1 G A 152296007 152296007 WashU PYHIN1 149628 genome.wustl.edu GRCh37 1 158908895 158908895 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368140.1:c.437A>G p.Glu146Gly p.E146G ENST00000368140 NM_152501.4 146 gAg/gGg 0 Missense_Mutation A 11 PYHIN1 SNP 1 A G 157175519 157175519 WashU KCNMB2 10242 genome.wustl.edu GRCh37 3 178560615 178560615 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000432997.1:c.598C>G p.Leu200Val p.L200V ENST00000432997 NM_001278911.1 200 Ctc/Gtc 0 Missense_Mutation C 20 KCNMB2 SNP 3 C G 180043309 180043309 WashU USH2A 7399 genome.wustl.edu GRCh37 1 215901553 215901553 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000307340.3:c.11885A>G p.Glu3962Gly p.E3962G ENST00000307340 NM_206933.2 3962 gAa/gGa 0 Missense_Mutation T 62 USH2A SNP 1 T C 213968176 213968176 WashU COL6A3 1293 genome.wustl.edu GRCh37 2 238280958 238280958 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295550.4:c.3702G>T p.Val1234= p.V1234= ENST00000295550 NM_004369.3 1234 gtG/gtT 0 Silent C 21 COL6A3 SNP 2 C A 237945697 237945697 WashU CRTAC1 55118 genome.wustl.edu GRCh37 10 99644060 99644060 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1425-01 TCGA-24-1425-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370597.3:c.1535T>G p.Met512Arg p.M512R ENST00000370597 NM_018058.6 512 aTg/aGg 0 Missense_Mutation A 8 CRTAC1 SNP 10 A C 99634050 99634050 WashU LYPLA2 11313 broad.mit.edu GRCh37 1 24121071 24121071 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000374514.3:c.626T>C p.Met209Thr p.M209T ENST00000374514 NM_007260.2 209 aTg/aCg 0 Missense_Mutation T 51 LYPLA2 SNP 1 T C 23993658 23993658 Broad CD1B 910 broad.mit.edu GRCh37 1 158298760 158298760 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000368168.3:c.931C>T p.Pro311Ser p.P311S ENST00000368168 NM_001764.2 311 Cct/Tct 0 Missense_Mutation G 42 CD1B SNP 1 G A 156565384 156565384 Broad DPT 1805 broad.mit.edu GRCh37 1 168683529 168683529 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000367817.3:c.361G>C p.Glu121Gln p.E121Q ENST00000367817 NM_001937.4 121 Gag/Cag 0 Missense_Mutation C 31 DPT SNP 1 C G 166950153 166950153 Broad HMCN1 83872 broad.mit.edu GRCh37 1 185833716 185833716 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000271588.4:c.454C>A p.Leu152Ile p.L152I ENST00000271588 NM_031935.2 152 Ctc/Atc 0 Missense_Mutation C 28 HMCN1 SNP 1 C A 184100339 184100339 Broad DENND1B 163486 broad.mit.edu GRCh37 1 197481075 197481075 + splice_acceptor_variant,NMD_transcript_variant Splice_Site SNP C C T novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000294737.7:c.*287-1G>A p.X96_splice ENST00000294737 0 Splice_Site_SNP C 24 DENND1B SNP 1 C T 195747698 195747698 Broad SUV39H2 79723 broad.mit.edu GRCh37 10 14939160 14939160 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000354919.6:c.493C>G p.Pro165Ala p.P165A ENST00000354919 NM_001193424.1 165 Cca/Gca 0 Missense_Mutation C 22 SUV39H2 SNP 10 C G 14979166 14979166 Broad SORBS1 10580 broad.mit.edu GRCh37 10 97096845 97096845 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000371247.2:c.3072A>T p.Ser1024= p.S1024= ENST00000371247 1024 tcA/tcT 0 Silent T 59 SORBS1 SNP 10 T A 97086835 97086835 Broad CDON 50937 broad.mit.edu GRCh37 11 125893310 125893310 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000392693.3:c.62C>G p.Ser21Cys p.S21C ENST00000392693 NM_001243597.1 21 tCt/tGt 0 Missense_Mutation G 33 CDON SNP 11 G C 125398520 125398520 Broad NECAP1 25977 broad.mit.edu GRCh37 12 8245638 8245638 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000339754.5:c.663A>G p.Gly221= p.G221= ENST00000339754 NM_015509.3 221 ggA/ggG 0 Silent A 11 NECAP1 SNP 12 A G 8136905 8136905 Broad SCN8A 6334 broad.mit.edu GRCh37 12 52184247 52184247 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000354534.6:c.4485G>C p.Leu1495= p.L1495= ENST00000354534 NM_014191.3 1495 ctG/ctC 0 Silent G 47 SCN8A SNP 12 G C 50470514 50470514 Broad NBEA 26960 broad.mit.edu GRCh37 13 35615220 35615220 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000400445.3:c.445C>T p.Arg149Trp p.R149W ENST00000400445 NM_015678.4 149 Cgg/Tgg 0 Missense_Mutation C 31 NBEA SNP 13 C T 34513220 34513220 Broad LRRK1 79705 broad.mit.edu GRCh37 15 101593134 101593134 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000388948.3:c.3697C>G p.Leu1233Val p.L1233V ENST00000388948 NM_024652.3 1233 Ctg/Gtg 0 Missense_Mutation C 24 LRRK1 SNP 15 C G 99410657 99410657 Broad PALB2 79728 broad.mit.edu GRCh37 16 23646411 23646411 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 T C T T Unknown Valid Somatic x x 454_PCR_WGA x ENST00000261584.4:c.1456A>G p.Lys486Glu p.K486E ENST00000261584 NM_024675.3 486 Aaa/Gaa 0 Missense_Mutation T 61 PALB2 SNP 16 T C 23553912 23553912 Broad SNX20 124460 broad.mit.edu GRCh37 16 50711383 50711383 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000330943.4:c.55T>C p.Cys19Arg p.C19R ENST00000330943 NM_182854.2 19 Tgc/Cgc 0 Missense_Mutation A 6 SNX20 SNP 16 A G 49268884 49268884 Broad MMP2 4313 broad.mit.edu GRCh37 16 55523684 55523684 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000219070.4:c.1128G>A p.Ala376= p.A376= ENST00000219070 NM_004530.4 376 gcG/gcA 0 Silent G 37 MMP2 SNP 16 G A 54081185 54081185 Broad TP53 7157 broad.mit.edu GRCh37 17 7577536 7577536 + missense_variant Missense_Mutation SNP T T C rs67185453 Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.745A>G p.Arg249Gly p.R249G ENST00000269305 NM_001126112.2 249 Agg/Ggg 0 Missense_Mutation T 54 TP53 SNP 17 T C 7518261 7518261 Broad CDK12 51755 broad.mit.edu GRCh37 17 37676233 37676233 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000447079.4:c.2988A>T p.Leu996Phe p.L996F ENST00000447079 NM_015083.1 996 ttA/ttT 0 Missense_Mutation A 16 CDK12 SNP 17 A T 34929759 34929759 Broad DLGAP1 9229 broad.mit.edu GRCh37 18 3879507 3879507 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000315677.3:c.562C>T p.Arg188Cys p.R188C ENST00000315677 NM_004746.3 188 Cgc/Tgc 0 Missense_Mutation G 38 DLGAP1 SNP 18 G A 3869507 3869507 Broad ZNF536 9745 broad.mit.edu GRCh37 19 30934886 30934886 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000355537.3:c.417C>T p.Phe139= p.F139= ENST00000355537 NM_014717.1 139 ttC/ttT 0 Silent C 30 ZNF536 SNP 19 C T 35626726 35626726 Broad ZSWIM3 140831 broad.mit.edu GRCh37 20 44507214 44507214 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000255152.2:c.2017C>T p.Arg673Cys p.R673C ENST00000255152 NM_080752.3 673 Cgc/Tgc 0 Missense_Mutation C 23 ZSWIM3 SNP 20 C T 43940621 43940621 Broad KRTAP10-9 386676 broad.mit.edu GRCh37 21 46047807 46047807 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000397911.3:c.719G>A p.Arg240Lys p.R240K ENST00000397911 NM_198690.2 240 aGg/aAg 0 Missense_Mutation G 35 KRTAP10-9 SNP 21 G A 44872235 44872235 Broad IQSEC1 9922 broad.mit.edu GRCh37 3 12957152 12957152 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000273221.4:c.2144A>G p.Asn715Ser p.N715S ENST00000273221 NM_014869.5 715 aAt/aGt 0 Missense_Mutation T 52 IQSEC1 SNP 3 T C 12932152 12932152 Broad SEMA3G 56920 broad.mit.edu GRCh37 3 52472055 52472055 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000231721.2:c.1670G>A p.Arg557His p.R557H ENST00000231721 NM_020163.1 557 cGc/cAc 0 Missense_Mutation C 27 SEMA3G SNP 3 C T 52447095 52447095 Broad SI 6476 broad.mit.edu GRCh37 3 164785131 164785131 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264382.3:c.632C>T p.Thr211Ile p.T211I ENST00000264382 NM_001041.3 211 aCt/aTt 0 Missense_Mutation G 36 SI SNP 3 G A 166267825 166267825 Broad PIGG 54872 broad.mit.edu GRCh37 4 515043 515043 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000453061.2:c.1313G>A p.Gly438Glu p.G438E ENST00000453061 NM_001127178.1 438 gGg/gAg 0 Missense_Mutation G 43 PIGG SNP 4 G A 505043 505043 Broad ANP32C 23520 broad.mit.edu GRCh37 4 165118166 165118166 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000512835.1:n.698G>A *233* ENST00000512835 0 Missense_Mutation C 31 ANP32C SNP 4 C T 165337616 165337616 Broad CDH18 1016 broad.mit.edu GRCh37 5 19483573 19483573 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000507958.1:c.1719T>A p.Gly573= p.G573= ENST00000507958 573 ggT/ggA 0 Silent A 6 CDH18 SNP 5 A T 19519330 19519330 Broad EPB41L4A 64097 broad.mit.edu GRCh37 5 111504701 111504701 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000261486.5:c.1841C>T p.Ser614Leu p.S614L ENST00000261486 NM_022140.3 614 tCg/tTg 0 Missense_Mutation G 37 EPB41L4A SNP 5 G A 111532600 111532600 Broad AFF4 27125 broad.mit.edu GRCh37 5 132270224 132270224 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000265343.5:c.533C>G p.Ser178Cys p.S178C ENST00000265343 NM_014423.3 178 tCt/tGt 0 Missense_Mutation G 33 AFF4 SNP 5 G C 132298123 132298123 Broad FLT4 2324 broad.mit.edu GRCh37 5 180048851 180048851 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000261937.6:c.1711G>A p.Gly571Ser p.G571S ENST00000261937 NM_182925.4 571 Ggc/Agc 0 Missense_Mutation C 22 FLT4 SNP 5 C T 179981457 179981457 Broad GCNT2 2651 broad.mit.edu GRCh37 6 10556700 10556700 + intron_variant Intron SNP G G A rs55786982 Unknown TCGA-24-1466-01 TCGA-24-1466-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000379597.3:c.925+26631G>A *309* ENST00000379597 0 Missense_Mutation G 36 GCNT2 SNP 6 G A 10664686 10664686 Broad HIST1H3B 8358 broad.mit.edu GRCh37 6 26031939 26031939 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000244661.2:c.350G>A p.Arg117Gln p.R117Q ENST00000244661 NM_003537.3 117 cGa/cAa 0 Missense_Mutation C 31 HIST1H3B SNP 6 C T 26139918 26139918 Broad HLA-E 3133 broad.mit.edu GRCh37 6 30457687 30457687 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000376630.4:c.249G>A p.Arg83= p.R83= ENST00000376630 NM_005516.5 83 cgG/cgA 0 Silent G 43 HLA-E SNP 6 G A 30565666 30565666 Broad GPR115 221393 broad.mit.edu GRCh37 6 47680169 47680169 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000283303.2:c.377A>G p.Glu126Gly p.E126G ENST00000283303 NM_153838.3 126 gAg/gGg 0 Missense_Mutation A 11 GPR115 SNP 6 A G 47788128 47788128 Broad FAM83B 222584 broad.mit.edu GRCh37 6 54804566 54804566 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000306858.7:c.797T>C p.Val266Ala p.V266A ENST00000306858 NM_001010872.2 266 gTt/gCt 0 Missense_Mutation T 60 FAM83B SNP 6 T C 54912525 54912525 Broad KCNQ5 56479 broad.mit.edu GRCh37 6 73787150 73787150 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000342056.2:c.722G>A p.Arg241His p.R241H ENST00000342056 NM_001160132.1 241 cGc/cAc 0 Missense_Mutation G 38 KCNQ5 SNP 6 G A 73843871 73843871 Broad FIGNL1 63979 broad.mit.edu GRCh37 7 50514933 50514933 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000419119.1:c.53A>T p.Tyr18Phe p.Y18F ENST00000419119 18 tAc/tTc 0 Missense_Mutation T 57 FIGNL1 SNP 7 T A 50482427 50482427 Broad COBL 23242 broad.mit.edu GRCh37 7 51096337 51096337 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000265136.7:c.2456A>C p.Lys819Thr p.K819T ENST00000265136 NM_015198.3 819 aAg/aCg 0 Missense_Mutation T 56 COBL SNP 7 T G 51063831 51063831 Broad AKAP9 10142 broad.mit.edu GRCh37 7 91712529 91712529 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000356239.3:c.8206G>T p.Val2736Phe p.V2736F ENST00000356239 NM_147185.2 2736 Gtt/Ttt 0 Missense_Mutation G 36 AKAP9 SNP 7 G T 91550465 91550465 Broad SGCE 8910 broad.mit.edu GRCh37 7 94248262 94248262 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000445866.2:c.470C>T p.Pro157Leu p.P157L ENST00000445866 NM_001099401.1 157 cCg/cTg 0 Missense_Mutation G 39 SGCE SNP 7 G A 94086198 94086198 Broad KMT2E 55904 broad.mit.edu GRCh37 7 104749603 104749603 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000311117.3:c.3683C>G p.Ser1228Cys p.S1228C ENST00000311117 NM_182931.2 1228 tCt/tGt 0 Missense_Mutation C 32 MLL5 SNP 7 C G 104536839 104536839 Broad KIAA1549 57670 broad.mit.edu GRCh37 7 138602549 138602549 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000422774.1:c.1823G>A p.Arg608His p.R608H ENST00000422774 608 cGt/cAt 0 Missense_Mutation C 19 KIAA1549 SNP 7 C T 138253089 138253089 Broad PCM1 5108 broad.mit.edu GRCh37 8 17812987 17812987 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000325083.8:c.1297C>G p.Gln433Glu p.Q433E ENST00000325083 NM_006197.3 433 Caa/Gaa 0 Missense_Mutation C 17 PCM1 SNP 8 C G 17857267 17857267 Broad ZFHX4 79776 broad.mit.edu GRCh37 8 77761834 77761834 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000521891.2:c.3732G>T p.Pro1244= p.P1244= ENST00000521891 NM_024721.4 1244 ccG/ccT 0 Silent G 39 ZFHX4 SNP 8 G T 77924389 77924389 Broad NDRG1 10397 broad.mit.edu GRCh37 8 134296538 134296538 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000414097.2:c.17A>G p.Gln6Arg p.Q6R ENST00000414097 NM_001135242.1 6 cAg/cGg 0 Missense_Mutation T 55 NDRG1 SNP 8 T C 134365720 134365720 Broad MPDZ 8777 broad.mit.edu GRCh37 9 13224504 13224504 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000541718.1:c.262C>G p.Leu88Val p.L88V ENST00000541718 NM_001261407.1 88 Ctg/Gtg 0 Missense_Mutation G 33 MPDZ SNP 9 G C 13214504 13214504 Broad SPATA31E1 286234 broad.mit.edu GRCh37 9 90502005 90502005 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000325643.5:c.2603C>T p.Pro868Leu p.P868L ENST00000325643 NM_178828.4 868 cCg/cTg 0 Missense_Mutation C 23 C9orf79 SNP 9 C T 89691825 89691825 Broad SPTAN1 6709 broad.mit.edu GRCh37 9 131388958 131388958 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000372739.3:c.6568A>G p.Ile2190Val p.I2190V ENST00000372739 NM_001130438.2 2190 Atc/Gtc 0 Missense_Mutation A 4 SPTAN1 SNP 9 A G 130428779 130428779 Broad FRMPD4 9758 broad.mit.edu GRCh37 X 12712557 12712557 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000380682.1:c.917A>G p.Glu306Gly p.E306G ENST00000380682 NM_014728.3 306 gAg/gGg 0 Missense_Mutation A 11 FRMPD4 SNP 23 A G 12622478 12622478 Broad LAS1L 81887 broad.mit.edu GRCh37 X 64743484 64743484 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown x x x ENST00000374811.3:c.1404C>T p.Ser468= p.S468= ENST00000374811 NM_031206.4 468 tcC/tcT 0 Silent G 35 LAS1L SNP 23 G A 64660209 64660209 Broad PHKA1 5255 broad.mit.edu GRCh37 X 71864275 71864275 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000373542.4:c.1396G>T p.Ala466Ser p.A466S ENST00000373542 NM_002637.3 466 Gct/Tct 0 Missense_Mutation C 25 PHKA1 SNP 23 C A 71781000 71781000 Broad NAV1 89796 broad.mit.edu GRCh37 1 201749593 201749596 + frameshift_variant Frame_Shift_Del DEL CAGA CAGA - novel Unknown TCGA-24-1466-01 TCGA-24-1466-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000367296.4:c.1273_1276del p.Asp425IlefsTer29 p.D425Ifs*29 ENST00000367296 NM_020443.4 424 tCAGAc/tc 0 Frame_Shift_Del CAGA 29 NAV1 DEL 1 - CAGA 200016219 200016216 Broad TP53 7157 genome.wustl.edu GRCh37 17 7577128 7577128 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.810T>G p.Phe270Leu p.F270L ENST00000269305 NM_001126112.2 270 ttT/ttG 0 Missense_Mutation A 5 TP53 SNP 17 A C 7517853 7517853 WashU FASTKD3 79072 genome.wustl.edu GRCh37 5 7867093 7867093 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264669.5:c.1104T>C p.Pro368= p.P368= ENST00000264669 NM_024091.3 368 ccT/ccC 0 Silent A 7 FASTKD3 SNP 5 A G 7920093 7920093 WashU MUC16 94025 genome.wustl.edu GRCh37 19 9089509 9089509 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397910.4:c.2306T>A p.Val769Asp p.V769D ENST00000397910 NM_024690.2 769 gTt/gAt 0 Missense_Mutation A 2 MUC16 SNP 19 A T 8950509 8950509 WashU DCLRE1C 64421 genome.wustl.edu GRCh37 10 14976407 14976407 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378278.2:c.650C>A p.Thr217Asn p.T217N ENST00000378278 217 aCc/aAc 0 Missense_Mutation G 44 DCLRE1C SNP 10 G T 15016413 15016413 WashU UNC13A 23025 genome.wustl.edu GRCh37 19 17785509 17785509 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000519716.2:c.109G>A p.Ala37Thr p.A37T ENST00000519716 NM_001080421.2 37 Gcg/Acg 0 Missense_Mutation C 27 UNC13A SNP 19 C T 17646509 17646509 WashU LAMA3 3909 genome.wustl.edu GRCh37 18 21511090 21511090 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313654.9:c.8501G>T p.Ser2834Ile p.S2834I ENST00000313654 NM_198129.1 2834 aGc/aTc 0 Missense_Mutation G 34 LAMA3 SNP 18 G T 19765088 19765088 WashU WDR35 57539 genome.wustl.edu GRCh37 2 20153613 20153613 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000345530.3:c.1415G>A p.Arg472Gln p.R472Q ENST00000345530 NM_001006657.1 472 cGa/cAa 0 Missense_Mutation C 31 WDR35 SNP 2 C T 20017094 20017094 WashU RNASE11 122651 genome.wustl.edu GRCh37 14 21058549 21058549 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000556526.1:c.334G>A p.Glu112Lys p.E112K ENST00000556526 NM_001024822.2 112 Gaa/Aaa 0 Missense_Mutation C 29 RNASE12 SNP 14 C T 20128389 20128389 WashU DNAH3 55567 genome.wustl.edu GRCh37 16 20981259 20981260 + missense_variant Missense_Mutation DNP TA TA CT novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 TA TA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000261383.3:c.8312_8313delinsAG p.Leu2771Gln p.L2771Q ENST00000261383 NM_017539.1 2771 cTA/cAG 0 Missense_Mutation TA 53 DNAH3 DNP 16 TA CT 20888761 20888760 WashU APOB 338 genome.wustl.edu GRCh37 2 21228859 21228859 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000233242.1:c.10881G>C p.Lys3627Asn p.K3627N ENST00000233242 NM_000384.2 3627 aaG/aaC 0 Missense_Mutation C 32 APOB SNP 2 C G 21082364 21082364 WashU DNMT3A 1788 genome.wustl.edu GRCh37 2 25469527 25469527 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264709.3:c.1241T>C p.Phe414Ser p.F414S ENST00000264709 NM_175629.2 414 tTc/tCc 0 Missense_Mutation A 9 DNMT3A SNP 2 A G 25323031 25323031 WashU MOG 4340 genome.wustl.edu GRCh37 6 29638162 29638162 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376898.3:c.697C>T p.Arg233Ter p.R233* ENST00000376898 233 Cga/Tga 0 Nonsense_Mutation C 31 MOG SNP 6 C T 29746141 29746141 WashU SVIL 6840 genome.wustl.edu GRCh37 10 29777600 29777600 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375398.2:c.4278C>G p.Val1426= p.V1426= ENST00000375398 1426 gtC/gtG 0 Silent G 45 SVIL SNP 10 G C 29817606 29817606 WashU NBEA 26960 genome.wustl.edu GRCh37 13 36124684 36124684 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400445.3:c.6656G>C p.Arg2219Pro p.R2219P ENST00000400445 NM_015678.4 2219 cGt/cCt 0 Missense_Mutation G 40 NBEA SNP 13 G C 35022684 35022684 WashU UGT3A1 133688 genome.wustl.edu GRCh37 5 35954511 35954511 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000274278.3:c.1365G>T p.Leu455= p.L455= ENST00000274278 NM_152404.3 455 ctG/ctT 0 Silent C 21 UGT3A1 SNP 5 C A 35990268 35990268 WashU NIPBL 25836 genome.wustl.edu GRCh37 5 37020619 37020619 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000282516.8:c.5069A>G p.Lys1690Arg p.K1690R ENST00000282516 NM_133433.3 1690 aAa/aGa 0 Missense_Mutation A 1 NIPBL SNP 5 A G 37056376 37056376 WashU TTC25 83538 genome.wustl.edu GRCh37 17 40095357 40095357 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000591658.1:n.1058G>A *353* ENST00000591658 0 Silent G 33 TTC25 SNP 17 G A 37348883 37348883 WashU MGA 23269 genome.wustl.edu GRCh37 15 41989143 41989143 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000219905.7:c.1935C>A p.Ser645Arg p.S645R ENST00000219905 NM_001164273.1 645 agC/agA 0 Missense_Mutation C 26 MGA SNP 15 C A 39776435 39776435 WashU CASK 8573 genome.wustl.edu GRCh37 X 41446234 41446234 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378166.4:c.1240G>T p.Glu414Ter p.E414* ENST00000378166 NM_003688.3 414 Gaa/Taa 0 Nonsense_Mutation C 30 CASK SNP 23 C A 41331178 41331178 WashU TESK2 10420 genome.wustl.edu GRCh37 1 45887413 45887413 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372086.3:c.328C>T p.His110Tyr p.H110Y ENST00000372086 NM_007170.2 110 Cat/Tat 0 Missense_Mutation G 47 TESK2 SNP 1 G A 45660000 45660000 WashU GDF2 2658 genome.wustl.edu GRCh37 10 48416452 48416452 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000249598.1:c.242C>T p.Thr81Ile p.T81I ENST00000249598 NM_016204.1 81 aCc/aTc 0 Missense_Mutation G 44 GDF2 SNP 10 G A 48036458 48036458 WashU GDF2 2658 genome.wustl.edu GRCh37 10 48416469 48416469 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000249598.1:c.225C>G p.Val75= p.V75= ENST00000249598 NM_016204.1 75 gtC/gtG 0 Silent G 41 GDF2 SNP 10 G C 48036475 48036475 WashU PSG7 5676 genome.wustl.edu GRCh37 19 43429963 43429963 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000406070.2:c.1205G>T p.Gly402Val p.G402V ENST00000406070 NM_002783.2 402 gGc/gTc 0 Missense_Mutation C 26 PSG7 SNP 19 C A 48121803 48121803 WashU FSHR 2492 genome.wustl.edu GRCh37 2 49190064 49190064 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000406846.2:c.1896C>A p.Asn632Lys p.N632K ENST00000406846 NM_000145.3 632 aaC/aaA 0 Missense_Mutation G 36 FSHR SNP 2 G T 49043568 49043568 WashU PKHD1 5314 genome.wustl.edu GRCh37 6 51909856 51909856 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371117.3:c.2623C>G p.Pro875Ala p.P875A ENST00000371117 NM_138694.3 875 Cct/Gct 0 Missense_Mutation G 41 PKHD1 SNP 6 G C 52017815 52017815 WashU CBLN4 140689 genome.wustl.edu GRCh37 20 54579077 54579077 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000064571.2:c.151G>T p.Asp51Tyr p.D51Y ENST00000064571 NM_080617.5 51 Gac/Tac 0 Missense_Mutation C 30 CBLN4 SNP 20 C A 54012484 54012484 WashU PAGE2 203569 genome.wustl.edu GRCh37 X 55117791 55117791 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374968.4:c.220G>T p.Glu74Ter p.E74* ENST00000374968 NM_207339.2 74 Gaa/Taa 0 Nonsense_Mutation G 41 PAGE2 SNP 23 G T 55134516 55134516 WashU SIGLEC6 946 genome.wustl.edu GRCh37 19 52031043 52031043 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000425629.3:c.1146A>G p.Gln382= p.Q382= ENST00000425629 NM_001245.5 382 caA/caG 0 Silent T 64 SIGLEC6 SNP 19 T C 56722855 56722855 WashU DIDO1 11083 genome.wustl.edu GRCh37 20 61527958 61527958 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000266070.4:c.1979G>A p.Ser660Asn p.S660N ENST00000266070 NM_033081.2 660 aGt/aAt 0 Missense_Mutation C 20 DIDO1 SNP 20 C T 60998403 60998403 WashU AHNAK 79026 genome.wustl.edu GRCh37 11 62293783 62293783 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378024.4:c.8106C>G p.Ile2702Met p.I2702M ENST00000378024 NM_001620.2 2702 atC/atG 0 Missense_Mutation G 45 AHNAK SNP 11 G C 62050359 62050359 WashU ZNF264 9422 genome.wustl.edu GRCh37 19 57722724 57722724 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263095.6:c.259G>A p.Asp87Asn p.D87N ENST00000263095 NM_003417.4 87 Gac/Aac 0 Missense_Mutation G 37 ZNF264 SNP 19 G A 62414536 62414536 WashU CCDC88B 283234 genome.wustl.edu GRCh37 11 64121190 64121190 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356786.5:c.3837C>G p.Asp1279Glu p.D1279E ENST00000356786 NM_032251.5 1279 gaC/gaG 0 Missense_Mutation C 18 CCDC88B SNP 11 C G 63877766 63877766 WashU RBM14 10432 genome.wustl.edu GRCh37 11 66391688 66391688 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310137.4:c.341A>G p.Tyr114Cys p.Y114C ENST00000310137 NM_006328.3 114 tAc/tGc 0 Missense_Mutation A 14 RBM14 SNP 11 A G 66148264 66148264 WashU RBM14 10432 genome.wustl.edu GRCh37 11 66393953 66393953 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310137.4:c.1824A>C p.Leu608Phe p.L608F ENST00000310137 NM_006328.3 608 ttA/ttC 0 Missense_Mutation A 15 RBM14 SNP 11 A C 66150529 66150529 WashU VCPIP1 80124 genome.wustl.edu GRCh37 8 67577186 67577186 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310421.4:c.2008G>T p.Gly670Cys p.G670C ENST00000310421 NM_025054.4 670 Ggt/Tgt 0 Missense_Mutation C 21 VCPIP1 SNP 8 C A 67739740 67739740 WashU CPA6 57094 genome.wustl.edu GRCh37 8 68396077 68396077 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297770.4:c.764A>T p.Lys255Ile p.K255I ENST00000297770 NM_020361.4 255 aAa/aTa 0 Missense_Mutation T 64 CPA6 SNP 8 T A 68558631 68558631 WashU KIAA0247 9766 genome.wustl.edu GRCh37 14 70177695 70177695 + stop_retained_variant Silent SNP G G A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342745.4:c.911G>A p.Ter304= p.*304= ENST00000342745 NM_014734.3 304 tGa/tAa 0 Silent G 45 KIAA0247 SNP 14 G A 69247448 69247448 WashU NCOA2 10499 genome.wustl.edu GRCh37 8 71040732 71040732 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000452400.2:c.3617T>G p.Leu1206Arg p.L1206R ENST00000452400 NM_006540.2 1206 cTt/cGt 0 Missense_Mutation A 3 NCOA2 SNP 8 A C 71203286 71203286 WashU DQX1 165545 genome.wustl.edu GRCh37 2 74746785 74746785 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000404568.3:c.1704A>T p.Glu568Asp p.E568D ENST00000404568 NM_133637.2 568 gaA/gaT 0 Missense_Mutation T 60 DQX1 SNP 2 T A 74600293 74600293 WashU ESRRB 2103 genome.wustl.edu GRCh37 14 76905830 76905830 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380887.2:c.134T>C p.Phe45Ser p.F45S ENST00000380887 45 tTt/tCt 0 Missense_Mutation T 64 ESRRB SNP 14 T C 75975583 75975583 WashU HGF 3082 genome.wustl.edu GRCh37 7 81336664 81336664 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000222390.5:c.1558G>T p.Gly520Ter p.G520* ENST00000222390 NM_000601.4 520 Gga/Tga 0 Nonsense_Mutation C 23 HGF SNP 7 C A 81174600 81174600 WashU CACNA2D1 781 genome.wustl.edu GRCh37 7 81599244 81599244 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356860.3:c.2261G>C p.Arg754Thr p.R754T ENST00000356860 NM_000722.2 754 aGg/aCg 0 Missense_Mutation C 24 CACNA2D1 SNP 7 C G 81437180 81437180 WashU KLHL25 64410 genome.wustl.edu GRCh37 15 86311340 86311340 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337975.5:c.1702A>G p.Ile568Val p.I568V ENST00000337975 NM_022480.3 568 Atc/Gtc 0 Missense_Mutation T 51 KLHL25 SNP 15 T C 84112344 84112344 WashU TMEM126A 84233 genome.wustl.edu GRCh37 11 85365199 85365199 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000304511.2:c.179T>C p.Val60Ala p.V60A ENST00000304511 NM_032273.3 60 gTg/gCg 0 Missense_Mutation T 59 TMEM126A SNP 11 T C 85042847 85042847 WashU SMARCAD1 56916 genome.wustl.edu GRCh37 4 95155254 95155254 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359052.4:c.518G>A p.Ser173Asn p.S173N ENST00000359052 NM_001128430.1 173 aGt/aAt 0 Missense_Mutation G 36 SMARCAD1 SNP 4 G A 95374277 95374277 WashU SLIT1 6585 genome.wustl.edu GRCh37 10 98773808 98773808 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000266058.4:c.3077A>T p.Asn1026Ile p.N1026I ENST00000266058 NM_003061.2 1026 aAc/aTc 0 Missense_Mutation T 60 SLIT1 SNP 10 T A 98763798 98763798 WashU PMPCB 9512 genome.wustl.edu GRCh37 7 102948151 102948151 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000249269.4:c.845G>C p.Ser282Thr p.S282T ENST00000249269 NM_004279.2 282 aGt/aCt 0 Missense_Mutation G 36 PMPCB SNP 7 G C 102735387 102735387 WashU CASP5 838 genome.wustl.edu GRCh37 11 104872905 104872905 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393141.2:c.606G>C p.Glu202Asp p.E202D ENST00000393141 NM_004347.3 202 gaG/gaC 0 Missense_Mutation C 24 CASP5 SNP 11 C G 104378115 104378115 WashU MYH15 22989 genome.wustl.edu GRCh37 3 108129646 108129646 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273353.3:c.4339G>A p.Val1447Ile p.V1447I ENST00000273353 NM_014981.1 1447 Gtc/Atc 0 Missense_Mutation C 18 MYH15 SNP 3 C T 109612336 109612336 WashU ZC3H6 376940 genome.wustl.edu GRCh37 2 113074146 113074146 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409871.1:c.847G>A p.Glu283Lys p.E283K ENST00000409871 NM_198581.2 283 Gaa/Aaa 0 Missense_Mutation G 41 ZC3H6 SNP 2 G A 112790617 112790617 WashU CSMD3 114788 genome.wustl.edu GRCh37 8 113364664 113364664 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297405.5:c.6236A>G p.Asp2079Gly p.D2079G ENST00000297405 NM_198123.1 2079 gAt/gGt 0 Missense_Mutation T 50 CSMD3 SNP 8 T C 113433840 113433840 WashU SC5D 6309 genome.wustl.edu GRCh37 11 121177111 121177111 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264027.4:c.360C>T p.Val120= p.V120= ENST00000264027 NM_006918.4 120 gtC/gtT 0 Silent C 31 SC5DL SNP 11 C T 120682321 120682321 WashU ADAM12 8038 genome.wustl.edu GRCh37 10 128019058 128019058 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368679.4:c.109G>A p.Gly37Arg p.G37R ENST00000368679 NM_003474.4 37 Gga/Aga 0 Missense_Mutation C 24 ADAM12 SNP 10 C T 128009048 128009048 WashU C10orf90 118611 genome.wustl.edu GRCh37 10 128114628 128114629 + stop_gained Nonsense_Mutation DNP TC TC AA novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 TC TC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000284694.7:c.1992_1993delinsTT p.Lys664_Lys665delinsAsnTer p.K664_K665delinsN* ENST00000284694 NM_001004298.2 664 aaGAaa/aaTTaa 0 Missense TC 62 C10orf90 DNP 10 TC AA 128104619 128104618 WashU GSDMC 56169 genome.wustl.edu GRCh37 8 130760777 130760777 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276708.4:c.1497C>G p.Leu499= p.L499= ENST00000276708 NM_031415.2 499 ctC/ctG 0 Silent G 33 GSDMC SNP 8 G C 130829959 130829959 WashU KHDRBS3 10656 genome.wustl.edu GRCh37 8 136619243 136619243 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355849.5:c.853G>A p.Asp285Asn p.D285N ENST00000355849 NM_006558.1 285 Gat/Aat 0 Missense_Mutation G 45 KHDRBS3 SNP 8 G A 136688425 136688425 WashU SPINK6 404203 genome.wustl.edu GRCh37 5 147593481 147593481 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000325630.2:c.90T>C p.Cys30= p.C30= ENST00000325630 NM_205841.3 30 tgT/tgC 0 Silent T 59 SPINK6 SNP 5 T C 147573674 147573674 WashU HPS3 84343 genome.wustl.edu GRCh37 3 148877927 148877927 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296051.2:c.1967C>T p.Pro656Leu p.P656L ENST00000296051 NM_032383.3 656 cCt/cTt 0 Missense_Mutation C 24 HPS3 SNP 3 C T 150360617 150360617 WashU FLG 2312 genome.wustl.edu GRCh37 1 152281309 152281309 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368799.1:c.6053G>A p.Arg2018Lys p.R2018K ENST00000368799 NM_002016.1 2018 aGa/aAa 0 Missense_Mutation C 32 FLG SNP 1 C T 150547933 150547933 WashU ARHGEF11 9826 genome.wustl.edu GRCh37 1 156909388 156909388 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368194.3:c.4048G>A p.Asp1350Asn p.D1350N ENST00000368194 NM_198236.2 1350 Gat/Aat 0 Missense_Mutation C 32 ARHGEF11 SNP 1 C T 155176012 155176012 WashU GMPS 8833 genome.wustl.edu GRCh37 3 155654195 155654195 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000496455.2:c.1876C>T p.Gln626Ter p.Q626* ENST00000496455 NM_003875.2 626 Caa/Taa 0 Nonsense_Mutation C 29 GMPS SNP 3 C T 157136889 157136889 WashU CCDC148 130940 genome.wustl.edu GRCh37 2 159170270 159170270 + missense_variant,splice_region_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000283233.5:c.901T>A p.Leu301Met p.L301M ENST00000283233 NM_138803.3 301 Ttg/Atg 0 Missense_Mutation A 1 CCDC148 SNP 2 A T 158878516 158878516 WashU PRG4 10216 genome.wustl.edu GRCh37 1 186276406 186276406 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C C A C A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000445192.2:c.1555C>A p.Pro519Thr p.P519T ENST00000445192 NM_005807.3 519 Ccc/Acc 0 Missense_Mutation C 30 PRG4 SNP 1 C A 184543029 184543029 WashU RGS18 64407 genome.wustl.edu GRCh37 1 192128415 192128415 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367460.3:c.185G>A p.Arg62His p.R62H ENST00000367460 NM_130782.2 62 cGc/cAc 0 Missense_Mutation G 38 RGS18 SNP 1 G A 190395038 190395038 WashU IKBKE 9641 genome.wustl.edu GRCh37 1 206653229 206653229 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000367120.3:c.1200C>T p.Pro400= p.P400= ENST00000367120 NM_014002.3 400 ccC/ccT 0 Silent C 21 IKBKE SNP 1 C T 204719852 204719852 WashU OR4K2 390431 genome.wustl.edu GRCh37 14 20345353 20345353 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298642.2:c.927T>A p.Asn309Lys p.N309K ENST00000298642 NM_001005501.1 309 aaT/aaA 0 Missense_Mutation T 49 OR4K2 SNP 14 T A 19415193 19415193 WashU CDRT1 374286 genome.wustl.edu GRCh37 17 15501919 15501919 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0924-01 TCGA-13-0924-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395906.3:c.1482C>G p.His494Gln p.H494Q ENST00000395906 NM_006382.3 494 caC/caG 0 Missense_Mutation G 44 CDRT1 SNP 17 G C 15442644 15442644 WashU PAH 5053 genome.wustl.edu GRCh37 12 103288569 103288576 + frameshift_variant Frame_Shift_Del DEL CTCAAGAT CTCAAGAT - Unknown TCGA-13-0924-01 TCGA-13-0924-10 CTCAAGAT CTCAAGAT CTCAAGAT - CTCAAGAT CTCAAGAT Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000553106.1:c.289_296del p.Ile97AlafsTer2 p.I97Afs*2 ENST00000553106 NM_000277.1 97 ATCTTGAGg/g 0 Frame_Shift_Del CTCAAGAT 24 PAH DEL 12 CTCAAGAT - 101812706 101812699 WashU KRT71 112802 genome.wustl.edu GRCh37 12 52942483 52942496 + splice_donor_variant,coding_sequence_variant Splice_Site DEL ACGGCTTCAAAGAG ACGGCTTCAAAGAG - Unknown TCGA-13-0924-01 TCGA-13-0924-10 ACGGCTTCAAAGAG ACGGCTTCAAAGAG ACGGCTTCAAAGAG - ACGGCTTCAAAGAG ACGGCTTCAAAGAG Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000267119.5:c.802_813+2del p.X268_splice ENST00000267119 NM_033448.2 268 0 Splice_Site_Del ACGGCTTCAAAGAG 14 KRT71 DEL 12 ACGGCTTCAAAGAG - 51228763 51228750 WashU ADAM22 53616 hgsc.bcm.edu GRCh37 7 87782583 87782583 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265727.7:c.1729G>C p.Gly577Arg p.G577R ENST00000265727 577 Ggg/Cgg 0 Missense_Mutation G 35 ADAM22 SNP 7 G C 87620519 87620519 Baylor AMICA1 120425 hgsc.bcm.edu GRCh37 11 118074284 118074284 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356289.5:c.631G>T p.Asp211Tyr p.D211Y ENST00000356289 NM_001098526.1 211 Gac/Tac 0 Missense_Mutation C 30 AMICA1 SNP 11 C A 117579494 117579494 Baylor AMIGO2 347902 hgsc.bcm.edu GRCh37 12 47472366 47472366 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000266581.4:c.420G>A p.Leu140= p.L140= ENST00000266581 NM_181847.4 140 ttG/ttA 0 Silent C 29 AMIGO2 SNP 12 C T 45758633 45758633 Baylor ANK2 287 hgsc.bcm.edu GRCh37 4 114179539 114179539 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000357077.4:c.1358A>G p.Asn453Ser p.N453S ENST00000357077 NM_001148.4 453 aAc/aGc 0 Missense_Mutation A 2 ANK2 SNP 4 A G 114398988 114398988 Baylor ANKRD52 283373 hgsc.bcm.edu GRCh37 12 56637165 56637165 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000267116.7:c.2992G>C p.Ala998Pro p.A998P ENST00000267116 NM_173595.3 998 Gca/Cca 0 Missense_Mutation C 28 ANKRD52 SNP 12 C G 54923432 54923432 Baylor ARHGEF12 23365 hgsc.bcm.edu GRCh37 11 120350701 120350701 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397843.2:c.3799C>T p.Leu1267= p.L1267= ENST00000397843 NM_015313.2 1267 Cta/Tta 0 Silent C 28 ARHGEF12 SNP 11 C T 119855911 119855911 Baylor BEND2 139105 hgsc.bcm.edu GRCh37 X 18213448 18213448 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000380033.4:c.1148C>G p.Ala383Gly p.A383G ENST00000380033 NM_153346.4 383 gCc/gGc 0 Missense_Mutation G 42 BEND2 SNP 23 G C 18123369 18123369 Baylor BIRC6 57448 hgsc.bcm.edu GRCh37 2 32828095 32828095 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000421745.2:c.14015C>T p.Thr4672Met p.T4672M ENST00000421745 NM_016252.3 4672 aCg/aTg 0 Missense_Mutation C 19 BIRC6 SNP 2 C T 32681599 32681599 Baylor BOD1L1 259282 hgsc.bcm.edu GRCh37 4 13612597 13612597 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000040738.5:c.1452T>C p.Ser484= p.S484= ENST00000040738 NM_148894.2 484 tcT/tcC 0 Silent A 7 BOD1L SNP 4 A G 13221695 13221695 Baylor C1orf186 440712 hgsc.bcm.edu GRCh37 1 206243199 206243199 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000331555.5:c.63G>C p.Leu21= p.L21= ENST00000331555 NM_001007544.2 21 ctG/ctC 0 Silent C 25 C1orf186 SNP 1 C G 204409822 204409822 Baylor TCAIM 285343 hgsc.bcm.edu GRCh37 3 44409183 44409183 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000342649.4:c.555A>G p.Arg185= p.R185= ENST00000342649 NM_173826.3 185 agA/agG 0 Silent A 11 C3orf23 SNP 3 A G 44384187 44384187 Baylor CACNA1G 8913 hgsc.bcm.edu GRCh37 17 48678184 48678184 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000359106.5:c.3788C>G p.Ser1263Cys p.S1263C ENST00000359106 NM_018896.4 1263 tCc/tGc 0 Missense_Mutation C 30 CACNA1G SNP 17 C G 46033183 46033183 Baylor CASC1 55259 hgsc.bcm.edu GRCh37 12 25297569 25297569 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395987.3:c.732G>T p.Glu244Asp p.E244D ENST00000395987 NM_018272.3 244 gaG/gaT 0 Missense_Mutation C 32 CASC1 SNP 12 C A 25188836 25188836 Baylor CCBE1 147372 hgsc.bcm.edu GRCh37 18 57122129 57122129 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000439986.4:c.608A>C p.Lys203Thr p.K203T ENST00000439986 NM_133459.3 203 aAg/aCg 0 Missense_Mutation T 56 CCBE1 SNP 18 T G 55273109 55273109 Baylor CCDC158 339965 hgsc.bcm.edu GRCh37 4 77283297 77283297 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000388914.3:c.2002G>A p.Glu668Lys p.E668K ENST00000388914 NM_001042784.1 668 Gaa/Aaa 0 Missense_Mutation C 29 CCDC158 SNP 4 C T 77502321 77502321 Baylor CD79A 973 hgsc.bcm.edu GRCh37 19 42383136 42383136 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000221972.3:c.156C>T p.Phe52= p.F52= ENST00000221972 NM_021601.3 52 ttC/ttT 0 Silent C 30 CD79A SNP 19 C T 47074976 47074976 Baylor DCST2 127579 hgsc.bcm.edu GRCh37 1 154999074 154999074 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368424.3:c.1460G>T p.Arg487Leu p.R487L ENST00000368424 NM_144622.2 487 cGt/cTt 0 Missense_Mutation C 19 DCST2 SNP 1 C A 153265698 153265698 Baylor DENND5B 160518 hgsc.bcm.edu GRCh37 12 31542301 31542301 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000389082.5:c.3598G>T p.Gly1200Trp p.G1200W ENST00000389082 NM_144973.3 1200 Ggg/Tgg 0 Missense_Mutation C 21 DENND5B SNP 12 C A 31433568 31433568 Baylor DNAH9 1770 hgsc.bcm.edu GRCh37 17 11572453 11572453 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000262442.4:c.2804C>T p.Pro935Leu p.P935L ENST00000262442 NM_001372.3 935 cCg/cTg 0 Missense_Mutation C 23 DNAH9 SNP 17 C T 11513178 11513178 Baylor DST 667 hgsc.bcm.edu GRCh37 6 56422287 56422287 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000244364.6:c.6601A>T p.Thr2201Ser p.T2201S ENST00000244364 NM_015548.4 2201 Aca/Tca 0 Missense_Mutation T 60 DST SNP 6 T A 56530246 56530246 Baylor ENO3 2027 hgsc.bcm.edu GRCh37 17 4860152 4860152 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000323997.6:c.1203G>A p.Ser401= p.S401= ENST00000323997 NM_001976.4 401 tcG/tcA 0 Silent G 39 ENO3 SNP 17 G A 4800876 4800876 Baylor EPHB3 2049 hgsc.bcm.edu GRCh37 3 184295724 184295724 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000330394.2:c.1678A>C p.Ile560Leu p.I560L ENST00000330394 NM_004443.3 560 Atc/Ctc 0 Missense_Mutation A 8 EPHB3 SNP 3 A C 185778418 185778418 Baylor F13A1 2162 hgsc.bcm.edu GRCh37 6 6222389 6222389 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264870.3:c.989G>T p.Gly330Val p.G330V ENST00000264870 NM_000129.3 330 gGa/gTa 0 Missense_Mutation C 30 F13A1 SNP 6 C A 6167388 6167388 Baylor FUK 197258 hgsc.bcm.edu GRCh37 16 70497548 70497548 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000288078.6:c.105G>T p.Arg35= p.R35= ENST00000288078 NM_145059.2 35 cgG/cgT 0 Silent G 43 FUK SNP 16 G T 69055049 69055049 Baylor GRK1 6011 hgsc.bcm.edu GRCh37 13 114325855 114325855 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000335678.6:c.869C>T p.Pro290Leu p.P290L ENST00000335678 NM_002929.2 290 cCg/cTg 0 Missense_Mutation C 23 GRK1 SNP 13 C T 113373856 113373856 Baylor H3F3B 3021 hgsc.bcm.edu GRCh37 17 73775203 73775204 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000254810.4:c.52dupC p.Arg18ProfsTer80 p.R18Pfs*80 ENST00000254810 NM_005324.3 18 cgc/cCgc 0 Frame_Shift_Ins - 27 H3F3B INS 17 - G 71286799 71286798 Baylor HAVCR1 26762 hgsc.bcm.edu GRCh37 5 156479568 156479569 + inframe_insertion In_Frame_Ins INS - - GTT novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000339252.3:c.476_477insAAC p.Thr160dup p.T160dup ENST00000339252 NM_012206.2 159 acg/acAACg 0 In_Frame_Ins - 31 HAVCR1 INS 5 - GTT 156412147 156412146 Baylor HMCN1 83872 hgsc.bcm.edu GRCh37 1 186121953 186121953 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000271588.4:c.14968G>T p.Val4990Leu p.V4990L ENST00000271588 NM_031935.2 4990 Gtg/Ttg 0 Missense_Mutation G 48 HMCN1 SNP 1 G T 184388576 184388576 Baylor HRNR 388697 hgsc.bcm.edu GRCh37 1 152195694 152195694 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368801.2:c.36C>T p.Ile12= p.I12= ENST00000368801 NM_001009931.2 12 atC/atT 0 Silent G 37 HRNR SNP 1 G A 150462318 150462318 Baylor HYDIN 54768 hgsc.bcm.edu GRCh37 16 71061565 71061565 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393567.2:c.2982G>A p.Met994Ile p.M994I ENST00000393567 NM_001270974.1 994 atG/atA 0 Missense_Mutation C 21 HYDIN SNP 16 C T 69619066 69619066 Baylor IFNA8 3445 hgsc.bcm.edu GRCh37 9 21409495 21409496 + frameshift_variant Frame_Shift_Del DEL AA AA - novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 AA AA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000380205.1:c.320_321del p.Glu107ValfsTer6 p.E107Vfs*6 ENST00000380205 NM_002170.3 107 gAA/g 0 Frame_Shift_Del AA 9 IFNA8 DEL 9 AA - 21399496 21399495 Baylor IRAK3 11213 hgsc.bcm.edu GRCh37 12 66638989 66638989 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 T T T G T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000261233.4:c.1261T>G p.Leu421Val p.L421V ENST00000261233 NM_007199.2 421 Ttg/Gtg 0 Missense_Mutation T 64 IRAK3 SNP 12 T G 64925256 64925256 Baylor ITGA8 8516 hgsc.bcm.edu GRCh37 10 15714726 15714726 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378076.3:c.699T>C p.Val233= p.V233= ENST00000378076 NM_003638.1 233 gtT/gtC 0 Silent A 5 ITGA8 SNP 10 A G 15754732 15754732 Baylor ITGB7 3695 hgsc.bcm.edu GRCh37 12 53591327 53591327 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000267082.5:c.524G>C p.Gly175Ala p.G175A ENST00000267082 NM_000889.1 175 gGg/gCg 0 Missense_Mutation C 22 ITGB7 SNP 12 C G 51877594 51877594 Baylor ITPR1 3708 hgsc.bcm.edu GRCh37 3 4853092 4853092 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302640.8:c.7371G>C p.Lys2457Asn p.K2457N ENST00000302640 NM_001168272.1 2457 aaG/aaC 0 Missense_Mutation G 35 ITPR1 SNP 3 G C 4828092 4828092 Baylor KIR3DL1 3811 hgsc.bcm.edu GRCh37 19 55331210 55331210 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000391728.4:c.398T>A p.Leu133Gln p.L133Q ENST00000391728 NM_013289.2 133 cTg/cAg 0 Missense_Mutation T 55 KIR3DL1 SNP 19 T A 60023022 60023022 Baylor LACTB2 51110 hgsc.bcm.edu GRCh37 8 71553242 71553242 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000276590.4:c.636A>G p.Gln212= p.Q212= ENST00000276590 NM_016027.2 212 caA/caG 0 Silent T 52 LACTB2 SNP 8 T C 71715796 71715796 Baylor LAMA1 284217 hgsc.bcm.edu GRCh37 18 6971901 6971901 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000389658.3:c.6854G>C p.Trp2285Ser p.W2285S ENST00000389658 NM_005559.3 2285 tGg/tCg 0 Missense_Mutation C 21 LAMA1 SNP 18 C G 6961901 6961901 Baylor LPHN2 23266 hgsc.bcm.edu GRCh37 1 82302706 82302706 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000319517.6:c.37T>C p.Phe13Leu p.F13L ENST00000319517 NM_012302.2 13 Ttt/Ctt 0 Missense_Mutation T 60 LPHN2 SNP 1 T C 82075294 82075294 Baylor MCCC1 56922 hgsc.bcm.edu GRCh37 3 182755055 182755055 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265594.4:c.1545C>T p.Leu515= p.L515= ENST00000265594 NM_020166.3 515 ctC/ctT 0 Silent G 45 MCCC1 SNP 3 G A 184237749 184237749 Baylor MDC1 9656 hgsc.bcm.edu GRCh37 6 30680657 30680657 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000376406.3:c.1062T>C p.His354= p.H354= ENST00000376406 NM_014641.2 354 caT/caC 0 Silent A 8 MDC1 SNP 6 A G 30788636 30788636 Baylor MEIS3 56917 hgsc.bcm.edu GRCh37 19 47912392 47912392 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000561293.1:c.822C>G p.Thr274= p.T274= ENST00000561293 274 acC/acG 0 Silent G 47 MEIS3 SNP 19 G C 52604204 52604204 Baylor MUC16 94025 hgsc.bcm.edu GRCh37 19 9086715 9086716 + frameshift_variant Frame_Shift_Ins INS - - ACTCATT novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397910.4:c.5099_5100insAATGAGT p.Ser1701MetfsTer8 p.S1701Mfs*8 ENST00000397910 NM_024690.2 1700 gtt/gtAATGAGTt 0 Frame_Shift_Ins - 1 MUC16 INS 19 - ACTCATT 8947716 8947715 Baylor NOS2 4843 hgsc.bcm.edu GRCh37 17 26101406 26101406 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000313735.6:c.1353C>G p.Tyr451Ter p.Y451* ENST00000313735 NM_000625.4 451 taC/taG 0 Nonsense_Mutation G 44 NOS2 SNP 17 G C 23125533 23125533 Baylor NOS3 4846 hgsc.bcm.edu GRCh37 7 150698506 150698506 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000297494.3:c.1421G>C p.Arg474Pro p.R474P ENST00000297494 NM_000603.4 474 cGc/cCc 0 Missense_Mutation G 38 NOS3 SNP 7 G C 150329439 150329439 Baylor PAPPA2 60676 hgsc.bcm.edu GRCh37 1 176759015 176759015 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367662.3:c.4786G>A p.Glu1596Lys p.E1596K ENST00000367662 NM_020318.2 1596 Gag/Aag 0 Missense_Mutation G 45 PAPPA2 SNP 1 G A 175025638 175025638 Baylor PASD1 139135 hgsc.bcm.edu GRCh37 X 150842507 150842507 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000370357.4:c.2024C>T p.Thr675Ile p.T675I ENST00000370357 NM_173493.2 675 aCt/aTt 0 Missense_Mutation C 20 PASD1 SNP 23 C T 150593163 150593163 Baylor PDE6A 5145 hgsc.bcm.edu GRCh37 5 149324131 149324131 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000255266.5:c.106C>T p.Leu36Phe p.L36F ENST00000255266 NM_000440.2 36 Ctc/Ttc 0 Missense_Mutation G 35 PDE6A SNP 5 G A 149304324 149304324 Baylor PEG3 5178 hgsc.bcm.edu GRCh37 19 57328940 57328940 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000326441.9:c.870A>G p.Lys290= p.K290= ENST00000326441 NM_006210.2 290 aaA/aaG 0 Silent T 64 PEG3 SNP 19 T C 62020752 62020752 Baylor PGLS 25796 hgsc.bcm.edu GRCh37 19 17631837 17631837 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000252603.2:c.724G>C p.Glu242Gln p.E242Q ENST00000252603 NM_012088.2 242 Gag/Cag 0 Missense_Mutation G 37 PGLS SNP 19 G C 17492837 17492837 Baylor PROCA1 147011 hgsc.bcm.edu GRCh37 17 27030880 27030880 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000301039.2:c.707T>G p.Leu236Trp p.L236W ENST00000301039 NM_152465.1 236 tTg/tGg 0 Missense_Mutation A 5 PROCA1 SNP 17 A C 24055007 24055007 Baylor PTK2 5747 hgsc.bcm.edu GRCh37 8 141745387 141745387 + synonymous_variant Silent SNP T T G novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000340930.3:c.1993A>C p.Arg665= p.R665= ENST00000340930 NM_001199649.1 665 Agg/Cgg 0 Silent T 55 PTK2 SNP 8 T G 141814569 141814569 Baylor RASIP1 54922 hgsc.bcm.edu GRCh37 19 49224073 49224073 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000222145.4:c.2874C>G p.Pro958= p.P958= ENST00000222145 NM_017805.2 958 ccC/ccG 0 Silent G 39 RASIP1 SNP 19 G C 53915885 53915885 Baylor RRM2B 50484 hgsc.bcm.edu GRCh37 8 103244508 103244508 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000251810.3:c.73A>G p.Ser25Gly p.S25G ENST00000251810 NM_001172478.1 25 Agt/Ggt 0 Missense_Mutation T 56 RRM2B SNP 8 T C 103313684 103313684 Baylor RUSC2 9853 hgsc.bcm.edu GRCh37 9 35556372 35556372 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000455600.1:c.2910G>T p.Lys970Asn p.K970N ENST00000455600 NM_001135999.1 970 aaG/aaT 0 Missense_Mutation G 34 RUSC2 SNP 9 G T 35546372 35546372 Baylor SACS 26278 hgsc.bcm.edu GRCh37 13 23910712 23910712 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000382298.3:c.7303C>G p.Leu2435Val p.L2435V ENST00000382298 NM_014363.5 2435 Ctc/Gtc 0 Missense_Mutation G 33 SACS SNP 13 G C 22808712 22808712 Baylor SERTAD4 56256 hgsc.bcm.edu GRCh37 1 210412850 210412850 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367012.3:c.188G>A p.Arg63Lys p.R63K ENST00000367012 NM_019605.3 63 aGg/aAg 0 Missense_Mutation G 35 SERTAD4 SNP 1 G A 208479473 208479473 Baylor SESN1 27244 hgsc.bcm.edu GRCh37 6 109323516 109323516 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000436639.2:c.310G>C p.Gly104Arg p.G104R ENST00000436639 NM_014454.2 104 Gga/Cga 0 Missense_Mutation C 24 SESN1 SNP 6 C G 109430209 109430209 Baylor SIAH1 6477 hgsc.bcm.edu GRCh37 16 48396301 48396301 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356721.3:c.132C>G p.Thr44= p.T44= ENST00000356721 NM_001006610.1 44 acC/acG 0 Silent G 35 SIAH1 SNP 16 G C 46953802 46953802 Baylor SLC37A3 84255 hgsc.bcm.edu GRCh37 7 140058560 140058560 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000326232.9:c.401A>T p.Glu134Val p.E134V ENST00000326232 NM_207113.1 134 gAa/gTa 0 Missense_Mutation T 62 SLC37A3 SNP 7 T A 139705029 139705029 Baylor SLC5A10 125206 hgsc.bcm.edu GRCh37 17 18916779 18916779 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395647.2:c.1087G>A p.Gly363Ser p.G363S ENST00000395647 NM_152351.4 363 Ggc/Agc 0 Missense_Mutation G 39 SLC5A10 SNP 17 G A 18857504 18857504 Baylor SMC1A 8243 hgsc.bcm.edu GRCh37 X 53436360 53436360 + synonymous_variant Silent SNP G G C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000322213.4:c.1329C>G p.Thr443= p.T443= ENST00000322213 NM_001281463.1 443 acC/acG 0 Silent G 47 SMC1A SNP 23 G C 53453085 53453085 Baylor SMG6 23293 hgsc.bcm.edu GRCh37 17 2203200 2203200 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263073.6:c.847C>T p.Gln283Ter p.Q283* ENST00000263073 NM_017575.4 283 Cag/Tag 0 Nonsense_Mutation G 48 SMG6 SNP 17 G A 2149950 2149950 Baylor SRC 6714 hgsc.bcm.edu GRCh37 20 36030940 36030940 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358208.4:c.1219G>C p.Asp407His p.D407H ENST00000358208 407 Gac/Cac 0 Missense_Mutation G 41 SRC SNP 20 G C 35464354 35464354 Baylor SRPRB 58477 hgsc.bcm.edu GRCh37 3 133530019 133530019 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000466490.2:c.386T>C p.Leu129Ser p.L129S ENST00000466490 NM_021203.3 129 tTa/tCa 0 Missense_Mutation T 61 SRPRB SNP 3 T C 135012709 135012709 Baylor STX3 6809 hgsc.bcm.edu GRCh37 11 59554600 59554600 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000337979.4:c.205C>A p.Pro69Thr p.P69T ENST00000337979 NM_001178040.1 69 Cca/Aca 0 Missense_Mutation C 30 STX3 SNP 11 C A 59311176 59311176 Baylor SVEP1 79987 hgsc.bcm.edu GRCh37 9 113169942 113169942 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000401783.2:c.7938G>A p.Val2646= p.V2646= ENST00000401783 NM_153366.3 2646 gtG/gtA 0 Silent C 29 SVEP1 SNP 9 C T 112209763 112209763 Baylor TACR1 6869 hgsc.bcm.edu GRCh37 2 75425947 75425947 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000305249.5:c.114C>A p.Ala38= p.A38= ENST00000305249 NM_001058.3 38 gcC/gcA 0 Silent G 35 TACR1 SNP 2 G T 75279455 75279455 Baylor TARS 6897 hgsc.bcm.edu GRCh37 5 33461146 33461146 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C C G C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000455217.2:c.1489C>G p.His497Asp p.H497D ENST00000455217 NM_001258438.1 497 Cac/Gac 0 Missense_Mutation C 29 TARS SNP 5 C G 33496903 33496903 Baylor TAT 6898 hgsc.bcm.edu GRCh37 16 71606096 71606096 + synonymous_variant Silent SNP A A T novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355962.4:c.699T>A p.Ile233= p.I233= ENST00000355962 NM_000353.2 233 atT/atA 0 Silent A 9 TAT SNP 16 A T 70163597 70163597 Baylor TMEM180 79847 hgsc.bcm.edu GRCh37 10 104235491 104235491 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000238936.4:c.1304T>A p.Phe435Tyr p.F435Y ENST00000238936 NM_024789.3 435 tTc/tAc 0 Missense_Mutation T 62 TMEM180 SNP 10 T A 104225481 104225481 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578406 7578406 + missense_variant Missense_Mutation SNP C C T rs28934578 Unknown TCGA-25-1318-01 TCGA-25-1318-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000269305.4:c.524G>A p.Arg175His p.R175H ENST00000269305 NM_001126112.2 175 cGc/cAc 0 Missense_Mutation C 27 TP53 SNP 17 C T 7519131 7519131 Baylor TRPV6 55503 hgsc.bcm.edu GRCh37 7 142583147 142583147 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000359396.3:c.115C>A p.Leu39Met p.L39M ENST00000359396 NM_018646.4 39 Ctg/Atg 0 Missense_Mutation G 34 TRPV6 SNP 7 G T 142293269 142293269 Baylor TTN 7273 hgsc.bcm.edu GRCh37 2 179399720 179399720 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000589042.1:c.101622C>T p.Asn33874= p.N33874= ENST00000589042 NM_001267550.1 33874 aaC/aaT 0 Silent G 48 TTN SNP 2 G A 179107966 179107966 Baylor UBXN6 80700 hgsc.bcm.edu GRCh37 19 4453963 4453963 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000301281.6:c.211T>G p.Trp71Gly p.W71G ENST00000301281 NM_025241.2 71 Tgg/Ggg 0 Missense_Mutation A 7 UBXN6 SNP 19 A C 4404963 4404963 Baylor USH2A 7399 hgsc.bcm.edu GRCh37 1 216011398 216011398 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000307340.3:c.9306A>T p.Gln3102His p.Q3102H ENST00000307340 NM_206933.2 3102 caA/caT 0 Missense_Mutation T 64 USH2A SNP 1 T A 214078021 214078021 Baylor RP11-683L23.1 genome.wustl.edu GRCh37 18 47469 47469 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308911.6:c.1256T>G p.Val419Gly p.V419G ENST00000308911 419 gTg/gGg 0 Missense_Mutation A 6 uc010djz.1 SNP 18 A C 37469 37469 WashU ANGPT4 51378 genome.wustl.edu GRCh37 20 858888 858888 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381922.3:c.1136G>A p.Arg379His p.R379H ENST00000381922 NM_015985.2 379 cGt/cAt 0 Missense_Mutation C 19 ANGPT4 SNP 20 C T 806888 806888 WashU TSPAN9 10867 genome.wustl.edu GRCh37 12 3387608 3387608 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000011898.5:c.85G>T p.Gly29Ter p.G29* ENST00000011898 NM_006675.4 29 Gga/Tga 0 Nonsense_Mutation G 43 TSPAN9 SNP 12 G T 3257869 3257869 WashU ITPR1 3708 genome.wustl.edu GRCh37 3 4808381 4808381 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302640.8:c.5667A>G p.Pro1889= p.P1889= ENST00000302640 NM_001168272.1 1889 ccA/ccG 0 Silent A 8 ITPR1 SNP 3 A G 4783381 4783381 WashU OR6A2 8590 genome.wustl.edu GRCh37 11 6816296 6816296 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332601.3:c.644C>A p.Pro215Gln p.P215Q ENST00000332601 NM_003696.2 215 cCa/cAa 0 Missense_Mutation G 47 OR6A2 SNP 11 G T 6772872 6772872 WashU LPCAT3 10162 genome.wustl.edu GRCh37 12 7087511 7087511 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261407.4:c.1032G>C p.Trp344Cys p.W344C ENST00000261407 NM_005768.5 344 tgG/tgC 0 Missense_Mutation C 22 LPCAT3 SNP 12 C G 6957772 6957772 WashU LRRC30 339291 genome.wustl.edu GRCh37 18 7231563 7231563 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000383467.2:c.427G>T p.Glu143Ter p.E143* ENST00000383467 NM_001105581.1 143 Gag/Tag 0 Nonsense_Mutation G 41 LRRC30 SNP 18 G T 7221563 7221563 WashU HTRA3 94031 genome.wustl.edu GRCh37 4 8305998 8305998 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307358.2:c.1188T>G p.Pro396= p.P396= ENST00000307358 NM_053044.3 396 ccT/ccG 0 Silent T 56 HTRA3 SNP 4 T G 8356898 8356898 WashU SHROOM2 357 genome.wustl.edu GRCh37 X 9900271 9900271 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380913.3:c.2948G>C p.Ser983Thr p.S983T ENST00000380913 NM_001649.2 983 aGt/aCt 0 Missense_Mutation G 36 SHROOM2 SNP 23 G C 9860271 9860271 WashU MYH4 4622 genome.wustl.edu GRCh37 17 10357115 10357115 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000255381.2:c.2779A>C p.Thr927Pro p.T927P ENST00000255381 NM_017533.2 927 Act/Cct 0 Missense_Mutation T 60 MYH4 SNP 17 G G 10297840 10297840 WashU MYH2 4620 genome.wustl.edu GRCh37 17 10441068 10441068 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000245503.5:c.1501C>A p.Gln501Lys p.Q501K ENST00000245503 NM_017534.5 501 Cag/Aag 0 Missense_Mutation G 46 MYH2 SNP 17 G T 10381793 10381793 WashU ODC1 4953 genome.wustl.edu GRCh37 2 10585130 10585130 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000234111.4:c.29A>G p.Asp10Gly p.D10G ENST00000234111 NM_002539.1 10 gAc/gGc 0 Missense_Mutation T 58 ODC1 SNP 2 T C 10502581 10502581 WashU CACNA1A 773 genome.wustl.edu GRCh37 19 13419060 13419060 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360228.5:c.1787G>T p.Trp596Leu p.W596L ENST00000360228 NM_001127222.1 596 tGg/tTg 0 Missense_Mutation C 21 CACNA1A SNP 19 C A 13280060 13280060 WashU SAMSN1 64092 genome.wustl.edu GRCh37 21 15870796 15870796 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000285670.2:c.1090C>T p.Leu364= p.L364= ENST00000285670 NM_001256370.1 364 Cta/Tta 0 Silent G 36 SAMSN1 SNP 21 G A 14792667 14792667 WashU CYP4F3 4051 genome.wustl.edu GRCh37 19 15760867 15760867 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000221307.8:c.792C>T p.His264= p.H264= ENST00000221307 NM_000896.2 264 caC/caT 0 Silent C 19 CYP4F3 SNP 19 C T 15621867 15621867 WashU EPS8 2059 genome.wustl.edu GRCh37 12 15835860 15835860 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000281172.5:c.26C>A p.Pro9His p.P9H ENST00000281172 NM_004447.5 9 cCc/cAc 0 Missense_Mutation G 43 EPS8 SNP 12 G T 15727127 15727127 WashU FBXL7 23194 genome.wustl.edu GRCh37 5 15928325 15928325 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000504595.1:c.454C>T p.Arg152Trp p.R152W ENST00000504595 NM_012304.4 152 Cgg/Tgg 0 Missense_Mutation C 27 FBXL7 SNP 5 C T 15981325 15981325 WashU GRPR 2925 genome.wustl.edu GRCh37 X 16168719 16168719 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380289.2:c.705A>G p.Lys235= p.K235= ENST00000380289 NM_005314.2 235 aaA/aaG 0 Silent A 1 GRPR SNP 23 A G 16078640 16078640 WashU XYLT1 64131 genome.wustl.edu GRCh37 16 17211515 17211515 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261381.6:c.2545C>G p.Pro849Ala p.P849A ENST00000261381 NM_022166.3 849 Ccc/Gcc 0 Missense_Mutation G 42 XYLT1 SNP 16 G C 17119016 17119016 WashU TUBA3C 7278 genome.wustl.edu GRCh37 13 19752417 19752417 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400113.3:c.344T>C p.Val115Ala p.V115A ENST00000400113 NM_006001.2 115 gTc/gCc 0 Missense_Mutation A 10 TUBA3C SNP 13 A G 18650417 18650417 WashU IGSF22 283284 genome.wustl.edu GRCh37 11 18737088 18737088 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000513874.1:c.1422G>C p.Glu474Asp p.E474D ENST00000513874 NM_173588.3 474 gaG/gaC 0 Missense_Mutation C 28 IGSF22 SNP 11 C G 18693664 18693664 WashU NPC1 4864 genome.wustl.edu GRCh37 18 21121351 21121351 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269228.5:c.2292G>T p.Ala764= p.A764= ENST00000269228 NM_000271.4 764 gcG/gcT 0 Silent C 23 NPC1 SNP 18 C A 19375349 19375349 WashU ALDH3A2 224 genome.wustl.edu GRCh37 17 19568264 19568264 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339618.4:c.1111A>G p.Ile371Val p.I371V ENST00000339618 NM_001031806.1 371 Atc/Gtc 0 Missense_Mutation A 8 ALDH3A2 SNP 17 A G 19508856 19508856 WashU LAMA3 3909 genome.wustl.edu GRCh37 18 21447850 21447850 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313654.9:c.4736G>A p.Arg1579Gln p.R1579Q ENST00000313654 NM_198129.1 1579 cGg/cAg 0 Missense_Mutation G 39 LAMA3 SNP 18 G A 19701848 19701848 WashU SDC1 6382 genome.wustl.edu GRCh37 2 20405179 20405179 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381150.1:c.73G>C p.Val25Leu p.V25L ENST00000381150 NM_001006946.1 25 Gtg/Ctg 0 Missense_Mutation C 17 SDC1 SNP 2 C G 20268660 20268660 WashU TRAV1-1 genome.wustl.edu GRCh37 14 22090639 22090639 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000542354.1:c.245G>A p.Ser82Asn p.S82N ENST00000542354 82 aGt/aAt 0 Missense_Mutation G 36 uc001wbi.2 SNP 14 G A 21160479 21160479 WashU NUPL2 11097 genome.wustl.edu GRCh37 7 23240128 23240128 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258742.5:c.1036G>A p.Gly346Ser p.G346S ENST00000258742 NM_007342.2 346 Ggt/Agt 0 Missense_Mutation G 47 NUPL2 SNP 7 G A 23206653 23206653 WashU TM9SF1 10548 genome.wustl.edu GRCh37 14 24662160 24662160 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261789.4:c.661C>T p.Arg221Cys p.R221C ENST00000261789 NM_006405.5 221 Cgt/Tgt 0 Missense_Mutation G 39 TM9SF1 SNP 14 G A 23732000 23732000 WashU MDS2 259283 genome.wustl.edu GRCh37 1 23965740 23965740 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374555.3:c.145A>G p.Ser49Gly p.S49G ENST00000374555 49 Agc/Ggc 0 Missense_Mutation A 11 MDS2 SNP 1 A G 23838327 23838327 WashU GPLD1 2822 genome.wustl.edu GRCh37 6 24462987 24462987 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000230036.1:c.858A>T p.Ala286= p.A286= ENST00000230036 NM_001503.3 286 gcA/gcT 0 Silent T 51 GPLD1 SNP 6 T A 24570966 24570966 WashU SEZ6L 23544 genome.wustl.edu GRCh37 22 26706763 26706763 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000248933.6:c.1642C>A p.Gln548Lys p.Q548K ENST00000248933 548 Cag/Aag 0 Missense_Mutation C 21 SEZ6L SNP 22 A A 25036763 25036763 WashU DNMT3A 1788 genome.wustl.edu GRCh37 2 25463284 25463284 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264709.3:c.2209C>T p.Leu737Phe p.L737F ENST00000264709 NM_175629.2 737 Ctc/Ttc 0 Missense_Mutation G 35 DNMT3A SNP 2 G A 25316788 25316788 WashU NSRP1 84081 genome.wustl.edu GRCh37 17 28512336 28512336 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000247026.5:c.1321G>A p.Glu441Lys p.E441K ENST00000247026 NM_032141.3 441 Gag/Aag 0 Missense_Mutation G 33 CCDC55 SNP 17 G A 25536462 25536462 WashU ATAD5 79915 genome.wustl.edu GRCh37 17 29204471 29204471 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321990.4:c.3822G>C p.Gln1274His p.Q1274H ENST00000321990 NM_024857.3 1274 caG/caC 0 Missense_Mutation G 33 ATAD5 SNP 17 G C 26228597 26228597 WashU OTOF 9381 genome.wustl.edu GRCh37 2 26689715 26689715 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272371.2:c.4367C>T p.Ser1456Phe p.S1456F ENST00000272371 NM_194248.2 1456 tCc/tTc 0 Missense_Mutation G 41 OTOF SNP 2 G A 26543219 26543219 WashU SLC5A12 159963 genome.wustl.edu GRCh37 11 26695067 26695067 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000396005.3:c.1589G>A p.Arg530Lys p.R530K ENST00000396005 NM_178498.3 530 aGa/aAa 0 Missense_Mutation C 32 SLC5A12 SNP 11 C T 26651643 26651643 WashU HOXA6 3203 genome.wustl.edu GRCh37 7 27187351 27187351 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000222728.3:c.18G>A p.Val6= p.V6= ENST00000222728 NM_024014.3 6 gtG/gtA 0 Silent C 29 HOXA6 SNP 7 C T 27153876 27153876 WashU NEK10 152110 genome.wustl.edu GRCh37 3 27216207 27216207 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295720.6:c.559G>T p.Asp187Tyr p.D187Y ENST00000295720 187 Gac/Tac 0 Missense_Mutation C 32 NEK10 SNP 3 C A 27191211 27191211 WashU TJP1 7082 genome.wustl.edu GRCh37 15 30012114 30012114 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000346128.6:c.2870A>T p.Glu957Val p.E957V ENST00000346128 NM_175610.2 957 gAg/gTg 0 Missense_Mutation T 54 TJP1 SNP 15 T A 27799406 27799406 WashU HIST1H2AM 8336 genome.wustl.edu GRCh37 6 27860927 27860927 + start_lost Translation_Start_Site SNP T T C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359611.2:c.1A>G p.Met1? p.M1? ENST00000359611 NM_003514.2 1 Atg/Gtg 0 Missense_Mutation T 51 HIST1H2AM SNP 6 T C 27968906 27968906 WashU FOSL2 2355 genome.wustl.edu GRCh37 2 28635199 28635199 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264716.4:c.865G>C p.Glu289Gln p.E289Q ENST00000264716 NM_005253.3 289 Gag/Cag 0 Missense_Mutation G 41 FOSL2 SNP 2 G C 28488703 28488703 WashU LTN1 26046 genome.wustl.edu GRCh37 21 30358518 30358518 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389194.2:c.425C>T p.Thr142Ile p.T142I ENST00000389194 NM_015565.2 142 aCa/aTa 0 Missense_Mutation G 48 RNF160 SNP 21 G A 29280389 29280389 WashU TRIM26 7726 genome.wustl.edu GRCh37 6 30164453 30164453 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000454678.2:c.605G>A p.Arg202Gln p.R202Q ENST00000454678 NM_003449.4 202 cGg/cAg 0 Missense_Mutation C 23 TRIM26 SNP 6 C T 30272432 30272432 WashU SRCAP 10847 genome.wustl.edu GRCh37 16 30731532 30731532 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262518.4:c.2867C>T p.Ser956Phe p.S956F ENST00000262518 NM_006662.2 956 tCt/tTt 0 Missense_Mutation C 32 SRCAP SNP 16 T T 30639033 30639033 WashU SPOCD1 90853 genome.wustl.edu GRCh37 1 32256846 32256846 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360482.2:c.3009G>A p.Glu1003= p.E1003= ENST00000360482 NM_144569.4 1003 gaG/gaA 0 Missense_Mutation C 24 SPOCD1 SNP 1 C T 32029433 32029433 WashU DMD 1756 genome.wustl.edu GRCh37 X 32382762 32382762 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357033.4:c.5091G>C p.Gln1697His p.Q1697H ENST00000357033 NM_004007.2 1697 caG/caC 0 Missense_Mutation C 24 DMD SNP 23 C G 32292683 32292683 WashU NCOA6 23054 genome.wustl.edu GRCh37 20 33330093 33330093 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374796.2:c.3967C>T p.Arg1323Trp p.R1323W ENST00000374796 1323 Cgg/Tgg 0 Missense_Mutation G 40 NCOA6 SNP 20 G A 32793754 32793754 WashU SYNJ1 8867 genome.wustl.edu GRCh37 21 34058111 34058111 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000433931.2:c.1182C>G p.Val394= p.V394= ENST00000433931 NM_003895.3 394 gtC/gtG 0 Silent G 41 SYNJ1 SNP 21 G C 32979982 32979982 WashU HEATR5B 54497 genome.wustl.edu GRCh37 2 37215935 37215935 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000233099.5:c.5765C>G p.Pro1922Arg p.P1922R ENST00000233099 NM_019024.1 1922 cCt/cGt 0 Missense_Mutation G 35 HEATR5B SNP 2 G C 37069439 37069439 WashU DMC1 11144 genome.wustl.edu GRCh37 22 38964241 38964241 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216024.2:c.21G>A p.Val7= p.V7= ENST00000216024 NM_007068.3 7 gtG/gtA 0 Silent C 21 DMC1 SNP 22 C T 37294187 37294187 WashU ACLY 47 genome.wustl.edu GRCh37 17 40069998 40069998 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000352035.2:c.129G>C p.Leu43Phe p.L43F ENST00000352035 NM_001096.2 43 ttG/ttC 0 Missense_Mutation C 25 ACLY SNP 17 C G 37323524 37323524 WashU CLEC14A 161198 genome.wustl.edu GRCh37 14 38724467 38724467 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342213.2:c.761G>T p.Gly254Val p.G254V ENST00000342213 NM_175060.2 254 gGc/gTc 0 Missense_Mutation C 26 CLEC14A SNP 14 C A 37794218 37794218 WashU SLC25A51 92014 genome.wustl.edu GRCh37 9 37887988 37887988 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377716.2:c.560A>T p.Asn187Ile p.N187I ENST00000377716 187 aAt/aTt 0 Missense_Mutation T 52 MCART1 SNP 9 T A 37877988 37877988 WashU TYRO3 7301 genome.wustl.edu GRCh37 15 41870120 41870120 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263798.3:c.2319C>G p.Pro773= p.P773= ENST00000263798 NM_006293.3 773 ccC/ccG 0 Silent C 21 TYRO3 SNP 15 C G 39657412 39657412 WashU RIMS4 140730 genome.wustl.edu GRCh37 20 43400046 43400046 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000541604.2:c.109C>T p.Arg37Trp p.R37W ENST00000541604 37 Cgg/Tgg 0 Missense_Mutation G 39 RIMS4 SNP 20 G A 42833460 42833460 WashU WFDC10B 280664 genome.wustl.edu GRCh37 20 44313569 44313569 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335769.2:c.170T>C p.Ile57Thr p.I57T ENST00000335769 NM_172131.2 57 aTa/aCa 0 Missense_Mutation A 16 WFDC10B SNP 20 A G 43746983 43746983 WashU ZNF182 7569 genome.wustl.edu GRCh37 X 47836155 47836155 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396965.1:c.1331A>G p.Asn444Ser p.N444S ENST00000396965 NM_001178099.1 444 aAc/aGc 0 Missense_Mutation T 60 ZNF182 SNP 23 T C 47721099 47721099 WashU USP19 10869 genome.wustl.edu GRCh37 3 49154036 49154036 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000434032.2:c.1131C>T p.Pro377= p.P377= ENST00000434032 NM_001199160.1 377 ccC/ccT 0 Silent G 39 USP19 SNP 3 G A 49129040 49129040 WashU OR4C12 283093 genome.wustl.edu GRCh37 11 50003838 50003838 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335238.4:c.200T>C p.Ile67Thr p.I67T ENST00000335238 NM_001005270.2 67 aTa/aCa 0 Missense_Mutation A 16 OR4C12 SNP 11 A G 49960414 49960414 WashU KRT4 3851 genome.wustl.edu GRCh37 12 53200959 53200959 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000551956.1:c.1457G>T p.Ser486Ile p.S486I ENST00000551956 486 aGt/aTt 0 Missense_Mutation C 20 KRT4 SNP 12 C A 51487226 51487226 WashU ERBB3 2065 genome.wustl.edu GRCh37 12 56495392 56495392 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000267101.3:c.3582T>A p.Asp1194Glu p.D1194E ENST00000267101 NM_001982.3 1194 gaT/gaA 0 Missense_Mutation T 51 ERBB3 SNP 12 T A 54781659 54781659 WashU BBS2 583 genome.wustl.edu GRCh37 16 56519549 56519549 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000245157.5:c.2012A>G p.Asn671Ser p.N671S ENST00000245157 NM_031885.3 671 aAc/aGc 0 Missense_Mutation T 60 BBS2 SNP 16 T C 55077050 55077050 WashU PAGE2 203569 genome.wustl.edu GRCh37 X 55117043 55117043 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374968.4:c.193G>T p.Gly65Trp p.G65W ENST00000374968 NM_207339.2 65 Ggg/Tgg 0 Missense_Mutation G 35 PAGE2 SNP 23 G T 55133768 55133768 WashU HEPH 9843 genome.wustl.edu GRCh37 X 65417598 65417598 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000519389.1:c.1737C>T p.Ala579= p.A579= ENST00000519389 579 gcC/gcT 0 Silent C 23 HEPH SNP 23 C T 65334323 65334323 WashU KCNJ16 3773 genome.wustl.edu GRCh37 17 68128366 68128366 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392670.1:c.138C>T p.Tyr46= p.Y46= ENST00000392670 46 taC/taT 0 Silent C 20 KCNJ16 SNP 17 C T 65639961 65639961 WashU CTCF 10664 genome.wustl.edu GRCh37 16 67645945 67645945 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264010.4:c.873G>C p.Glu291Asp p.E291D ENST00000264010 NM_006565.3 291 gaG/gaC 0 Missense_Mutation G 33 CTCF SNP 16 C C 66203446 66203446 WashU LRRC7 57554 genome.wustl.edu GRCh37 1 70144129 70144129 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370958.1:c.68G>T p.Arg23Leu p.R23L ENST00000370958 23 cGt/cTt 0 Missense_Mutation G 40 LRRC7 SNP 1 G T 69916717 69916717 WashU DNAH17 8632 genome.wustl.edu GRCh37 17 76497305 76497305 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389840.5:c.5402G>T p.Gly1801Val p.G1801V ENST00000389840 1801 gGc/gTc 0 Missense_Mutation C 26 DNAH17 SNP 17 C A 74008900 74008900 WashU DCTN1 1639 genome.wustl.edu GRCh37 2 74595160 74595160 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361874.3:c.1953C>G p.Ser651Arg p.S651R ENST00000361874 NM_004082.4 651 agC/agG 0 Missense_Mutation G 34 DCTN1 SNP 2 G C 74448668 74448668 WashU NAP1L1 4673 genome.wustl.edu GRCh37 12 76447075 76447075 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261182.8:c.826A>C p.Lys276Gln p.K276Q ENST00000261182 NM_004537.4 276 Aag/Cag 0 Missense_Mutation T 62 NAP1L1 SNP 12 T G 74733342 74733342 WashU ROBO2 6092 genome.wustl.edu GRCh37 3 75986695 75986695 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000487694.3:c.51G>A p.Pro17= p.P17= ENST00000487694 NM_001128929.2 17 ccG/ccA 0 Silent G 39 ROBO2 SNP 3 G A 76069385 76069385 WashU CCDC57 284001 genome.wustl.edu GRCh37 17 80146286 80146286 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392343.3:c.861G>C p.Glu287Asp p.E287D ENST00000392343 287 gaG/gaC 0 Missense_Mutation C 28 CCDC57 SNP 17 G G 77739575 77739575 WashU CMYA5 202333 genome.wustl.edu GRCh37 5 79032363 79032363 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000446378.2:c.7775C>T p.Thr2592Ile p.T2592I ENST00000446378 NM_153610.3 2592 aCa/aTa 0 Missense_Mutation C 17 CMYA5 SNP 5 C T 79068119 79068119 WashU FRAS1 80144 genome.wustl.edu GRCh37 4 79351519 79351519 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264895.6:c.4917G>A p.Gln1639= p.Q1639= ENST00000264895 NM_025074.6 1639 caG/caA 0 Silent G 34 FRAS1 SNP 4 G A 79570543 79570543 WashU TTK 7272 genome.wustl.edu GRCh37 6 80721178 80721178 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369798.2:c.641C>G p.Ser214Ter p.S214* ENST00000369798 NM_003318.4 214 tCa/tGa 0 Nonsense_Mutation C 29 TTK SNP 6 C G 80777897 80777897 WashU DACH2 117154 genome.wustl.edu GRCh37 X 86071103 86071103 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373125.4:c.1750+1G>T p.X584_splice ENST00000373125 NM_053281.3 0 Splice_Site_SNP G 44 DACH2 SNP 23 G T 85957759 85957759 WashU SPATA7 55812 genome.wustl.edu GRCh37 14 88883125 88883125 + synonymous_variant Silent SNP T T G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393545.4:c.309T>G p.Thr103= p.T103= ENST00000393545 NM_018418.4 103 acT/acG 0 Silent T 53 SPATA7 SNP 14 T G 87952878 87952878 WashU OR5H15 403274 genome.wustl.edu GRCh37 3 97888306 97888306 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356526.2:c.763C>A p.Leu255Ile p.L255I ENST00000356526 NM_001005515.1 255 Ctt/Att 0 Missense_Mutation C 24 OR5H15 SNP 3 C A 99370996 99370996 WashU AFF3 3899 genome.wustl.edu GRCh37 2 100175348 100175348 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356421.2:c.3349G>C p.Asp1117His p.D1117H ENST00000356421 NM_001025108.1 1117 Gac/Cac 0 Missense_Mutation C 31 AFF3 SNP 2 C G 99541780 99541780 WashU NALCN 259232 genome.wustl.edu GRCh37 13 101714348 101714348 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000251127.6:c.4727T>C p.Leu1576Pro p.L1576P ENST00000251127 NM_052867.2 1576 cTc/cCc 0 Missense_Mutation A 11 NALCN SNP 13 A G 100512349 100512349 WashU ALG2 85365 genome.wustl.edu GRCh37 9 101980889 101980889 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000476832.1:c.578A>C p.His193Pro p.H193P ENST00000476832 NM_033087.3 193 cAc/cCc 0 Missense_Mutation T 59 ALG2 SNP 9 T G 101020710 101020710 WashU ABI3BP 25890 genome.wustl.edu GRCh37 3 100566471 100566471 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000284322.5:c.1497C>A p.Ser499Arg p.S499R ENST00000284322 NM_015429.3 499 agC/agA 0 Missense_Mutation G 42 ABI3BP SNP 3 G T 102049161 102049161 WashU SLC9B1 150159 genome.wustl.edu GRCh37 4 103827787 103827787 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296422.7:c.1101G>C p.Lys367Asn p.K367N ENST00000296422 NM_139173.3 367 aaG/aaC 0 Missense_Mutation C 32 NHEDC1 SNP 4 C G 104047236 104047236 WashU NUAK1 9891 genome.wustl.edu GRCh37 12 106460898 106460898 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261402.2:c.1668C>G p.Val556= p.V556= ENST00000261402 NM_014840.2 556 gtC/gtG 0 Silent G 41 NUAK1 SNP 12 G C 104985028 104985028 WashU KBTBD3 143879 genome.wustl.edu GRCh37 11 105929663 105929663 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000526793.1:c.162C>A p.Phe54Leu p.F54L ENST00000526793 NM_152433.3 54 ttC/ttA 0 Missense_Mutation G 45 KBTBD3 SNP 11 G T 105434873 105434873 WashU FRMPD3 84443 genome.wustl.edu GRCh37 X 106841012 106841012 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276185.4:c.2002C>G p.Arg668Gly p.R668G ENST00000276185 668 Cgt/Ggt 0 Missense_Mutation C 31 FRMPD3 SNP 23 C G 106727668 106727668 WashU COL4A6 1288 genome.wustl.edu GRCh37 X 107404858 107404858 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000372216.4:c.4327G>T p.Gly1443Ter p.G1443* ENST00000372216 NM_001847.2 1443 Gga/Tga 0 Nonsense_Mutation C 24 COL4A6 SNP 23 A A 107291514 107291514 WashU ANGPT1 284 genome.wustl.edu GRCh37 8 108334357 108334357 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000517746.1:c.576-1G>A p.X192_splice ENST00000517746 NM_001199859.1 0 Splice_Site_SNP C 20 ANGPT1 SNP 8 C T 108403533 108403533 WashU CAPN6 827 genome.wustl.edu GRCh37 X 110495619 110495619 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324068.1:c.615T>A p.Thr205= p.T205= ENST00000324068 NM_014289.3 205 acT/acA 0 Silent A 7 CAPN6 SNP 23 A T 110382275 110382275 WashU DPPA2 151871 genome.wustl.edu GRCh37 3 109026937 109026937 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000478945.1:c.600G>A p.Lys200= p.K200= ENST00000478945 NM_138815.3 200 aaG/aaA 0 Silent C 24 DPPA2 SNP 3 C T 110509627 110509627 WashU DOCK4 9732 genome.wustl.edu GRCh37 7 111430594 111430594 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000437633.1:c.3234G>A p.Gln1078= p.Q1078= ENST00000437633 NM_014705.3 1078 caG/caA 0 Silent C 28 DOCK4 SNP 7 C T 111217830 111217830 WashU XPNPEP1 7511 genome.wustl.edu GRCh37 10 111630639 111630639 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000502935.1:c.1546C>G p.Arg516Gly p.R516G ENST00000502935 516 Cgt/Ggt 0 Missense_Mutation G 39 XPNPEP1 SNP 10 C C 111620629 111620629 WashU NCAM1 4684 genome.wustl.edu GRCh37 11 113078569 113078569 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000524665.1:c.938T>C p.Ile313Thr p.I313T ENST00000524665 NM_000615.6 313 aTa/aCa 0 Missense_Mutation T 49 NCAM1 SNP 11 T C 112583779 112583779 WashU C9orf84 158401 genome.wustl.edu GRCh37 9 114490176 114490176 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374287.3:c.1379C>T p.Ala460Val p.A460V ENST00000374287 460 gCa/gTa 0 Missense_Mutation G 46 C9orf84 SNP 9 G A 113529997 113529997 WashU FKBP15 23307 genome.wustl.edu GRCh37 9 115969541 115969541 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000238256.3:c.205A>G p.Met69Val p.M69V ENST00000238256 NM_015258.1 69 Atg/Gtg 0 Missense_Mutation T 51 FKBP15 SNP 9 T C 115009362 115009362 WashU ATRNL1 26033 genome.wustl.edu GRCh37 10 116889146 116889146 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355044.3:c.678T>C p.Ser226= p.S226= ENST00000355044 NM_207303.2 226 tcT/tcC 0 Silent T 55 ATRNL1 SNP 10 T C 116879136 116879136 WashU ROS1 6098 genome.wustl.edu GRCh37 6 117715380 117715380 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368508.3:c.1109C>A p.Ser370Tyr p.S370Y ENST00000368508 NM_002944.2 370 tCt/tAt 0 Missense_Mutation G 33 ROS1 SNP 6 G T 117822073 117822073 WashU KDM2B 84678 genome.wustl.edu GRCh37 12 121877819 121877819 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377071.4:c.3670G>T p.Asp1224Tyr p.D1224Y ENST00000377071 NM_032590.4 1224 Gac/Tac 0 Missense_Mutation C 30 KDM2B SNP 12 C A 120362202 120362202 WashU CASR 846 genome.wustl.edu GRCh37 3 121975939 121975939 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000498619.1:c.197G>A p.Arg66His p.R66H ENST00000498619 NM_001178065.1 66 cGt/cAt 0 Missense_Mutation G 40 CASR SNP 3 G A 123458629 123458629 WashU TACC2 10579 genome.wustl.edu GRCh37 10 123842315 123842315 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369005.1:c.300G>A p.Pro100= p.P100= ENST00000369005 NM_206862.2 100 ccG/ccA 0 Silent G 40 TACC2 SNP 10 G A 123832305 123832305 WashU GOLGA3 2802 genome.wustl.edu GRCh37 12 133373164 133373164 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000204726.3:c.2061G>C p.Met687Ile p.M687I ENST00000204726 NM_005895.3 687 atG/atC 0 Missense_Mutation C 21 GOLGA3 SNP 12 C G 131883237 131883237 WashU ASS1 445 genome.wustl.edu GRCh37 9 133376404 133376404 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372394.1:c.1235A>C p.Lys412Thr p.K412T ENST00000372394 412 aAa/aCa 0 Missense_Mutation A 1 ASS1 SNP 9 A C 132366225 132366225 WashU TTF1 7270 genome.wustl.edu GRCh37 9 135277490 135277490 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334270.2:c.719C>G p.Ser240Trp p.S240W ENST00000334270 NM_001205296.1 240 tCg/tGg 0 Missense_Mutation G 37 TTF1 SNP 9 G C 134267311 134267311 WashU ANKRD35 148741 genome.wustl.edu GRCh37 1 145562276 145562276 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355594.4:c.1964A>T p.Glu655Val p.E655V ENST00000355594 NM_144698.4 655 gAg/gTg 0 Missense_Mutation A 11 ANKRD35 SNP 1 A T 144273633 144273633 WashU ARSI 340075 genome.wustl.edu GRCh37 5 149676887 149676887 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328668.7:c.1600G>T p.Gly534Trp p.G534W ENST00000328668 NM_001012301.2 534 Ggg/Tgg 0 Missense_Mutation C 24 ARSI SNP 5 A A 149657080 149657080 WashU GYG1 2992 genome.wustl.edu GRCh37 3 148714548 148714548 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000345003.4:c.338A>T p.Asp113Val p.D113V ENST00000345003 NM_004130.3 113 gAt/gTt 0 Missense_Mutation A 12 GYG1 SNP 3 A T 150197238 150197238 WashU GABRA3 2556 genome.wustl.edu GRCh37 X 151336921 151336921 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370314.4:c.1258G>A p.Ala420Thr p.A420T ENST00000370314 NM_000808.3 420 Gct/Act 0 Missense_Mutation C 27 GABRA3 SNP 23 C T 151087577 151087577 WashU KMT2C 58508 genome.wustl.edu GRCh37 7 151860167 151860167 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262189.6:c.10495C>G p.Gln3499Glu p.Q3499E ENST00000262189 NM_170606.2 3499 Caa/Gaa 0 Missense_Mutation G 47 MLL3 SNP 7 G C 151491100 151491100 WashU PGLYRP4 57115 genome.wustl.edu GRCh37 1 153317777 153317777 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359650.5:c.221C>T p.Thr74Met p.T74M ENST00000359650 NM_020393.2 74 aCg/aTg 0 Missense_Mutation G 40 PGLYRP4 SNP 1 G A 151584401 151584401 WashU F8 2157 genome.wustl.edu GRCh37 X 154090037 154090037 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360256.4:c.6679G>C p.Ala2227Pro p.A2227P ENST00000360256 NM_000132.3 2227 Gct/Cct 0 Missense_Mutation C 28 F8 SNP 23 C G 153743231 153743231 WashU IQGAP3 128239 genome.wustl.edu GRCh37 1 156533015 156533015 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361170.2:c.709C>T p.Leu237= p.L237= ENST00000361170 NM_178229.4 237 Ctg/Ttg 0 Silent G 33 IQGAP3 SNP 1 G A 154799639 154799639 WashU GPR149 344758 genome.wustl.edu GRCh37 3 154146463 154146463 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389740.2:c.942C>A p.Ile314= p.I314= ENST00000389740 NM_001038705.1 314 atC/atA 0 Silent G 41 GPR149 SNP 3 G T 155629157 155629157 WashU TMEM181 57583 genome.wustl.edu GRCh37 6 159002020 159002020 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367090.3:c.572G>T p.Ser191Ile p.S191I ENST00000367090 NM_020823.1 191 aGc/aTc 0 Missense_Mutation G 34 TMEM181 SNP 6 G T 158922008 158922008 WashU FNDC1 84624 genome.wustl.edu GRCh37 6 159670087 159670087 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297267.9:c.4707G>A p.Thr1569= p.T1569= ENST00000297267 NM_032532.2 1569 acG/acA 0 Silent G 40 FNDC1 SNP 6 A A 159590077 159590077 WashU FAP 2191 genome.wustl.edu GRCh37 2 163059656 163059656 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000188790.4:c.1048-1G>C p.X350_splice ENST00000188790 NM_004460.2 0 Splice_Site_SNP C 20 FAP SNP 2 C G 162767902 162767902 WashU SELE 6401 genome.wustl.edu GRCh37 1 169697297 169697297 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333360.7:c.1181G>T p.Cys394Phe p.C394F ENST00000333360 NM_000450.2 394 tGt/tTt 0 Missense_Mutation C 17 SELE SNP 1 C A 167963921 167963921 WashU TTN 7273 genome.wustl.edu GRCh37 2 179600767 179600767 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.14406G>T p.Lys4802Asn p.K4802N ENST00000589042 NM_001267550.1 4802 aaG/aaT 0 Missense_Mutation C 20 TTN SNP 2 A A 179309012 179309012 WashU ATP2B4 493 genome.wustl.edu GRCh37 1 203672847 203672847 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357681.5:c.1005G>C p.Glu335Asp p.E335D ENST00000357681 NM_001684.4 335 gaG/gaC 0 Missense_Mutation G 35 ATP2B4 SNP 1 G C 201939470 201939470 WashU KCNH1 3756 genome.wustl.edu GRCh37 1 210977424 210977424 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000271751.4:c.1547T>C p.Leu516Pro p.L516P ENST00000271751 516 cTc/cCc 0 Missense_Mutation A 11 KCNH1 SNP 1 A G 209044047 209044047 WashU CCDC108 255101 genome.wustl.edu GRCh37 2 219900185 219900185 + intron_variant Intron SNP A A T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000341552.5:c.542+17T>A *181* ENST00000341552 NM_194302.3 0 Missense_Mutation A 12 CCDC108 SNP 2 A T 219608429 219608429 WashU SLC16A14 151473 genome.wustl.edu GRCh37 2 230911221 230911221 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295190.4:c.621G>T p.Ala207= p.A207= ENST00000295190 NM_152527.4 207 gcG/gcT 0 Silent C 27 SLC16A14 SNP 2 C A 230619465 230619465 WashU ACTN2 88 genome.wustl.edu GRCh37 1 236906308 236906308 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366578.4:c.1220G>T p.Arg407Met p.R407M ENST00000366578 NM_001278344.1 407 aGg/aTg 0 Missense_Mutation G 35 ACTN2 SNP 1 G T 234972931 234972931 WashU SH3BP4 23677 genome.wustl.edu GRCh37 2 235950811 235950811 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409212.1:c.1398G>A p.Val466= p.V466= ENST00000409212 466 gtG/gtA 0 Silent G 48 SH3BP4 SNP 2 G A 235615550 235615550 WashU OR2G6 391211 genome.wustl.edu GRCh37 1 248685525 248685525 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343414.4:c.578C>T p.Thr193Ile p.T193I ENST00000343414 NM_001013355.1 193 aCt/aTt 0 Missense_Mutation C 20 OR2G6 SNP 1 C T 246752148 246752148 WashU TP53 7157 genome.wustl.edu GRCh37 17 7574030 7574030 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G - G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.997delC p.Arg333ValfsTer12 p.R333Vfs*12 ENST00000269305 NM_001126112.2 333 Cgt/gt 0 Frame_Shift_Del G 39 TP53 DEL 17 G - 7514755 7514755 WashU ASIC2 40 genome.wustl.edu GRCh37 17 31348302 31348312 + frameshift_variant Frame_Shift_Del DEL AATATATCCAG AATATATCCAG - novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 AATATATCCAG AATATATCCAG AATATATCCAG - AATATATCCAG AATATATCCAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000225823.2:c.1366_1376del p.Leu456PhefsTer2 p.L456Ffs*2 ENST00000225823 NM_183377.1 456 CTGGATATATTt/t 0 Frame_Shift_Del AATATATCCAG 1 ACCN1 DEL 17 AATATATCCAG - 28372425 28372415 WashU TPD52 7163 genome.wustl.edu GRCh37 8 80976725 80976727 + inframe_deletion In_Frame_Del DEL TCT TCT - novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 TCT TCT TCT - TCT TCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379097.3:c.241_243del p.Arg81del p.R81del ENST00000379097 NM_001025252.1 81 AGA/- 0 In_Frame_Del TCT 54 TPD52 DEL 8 TCT - 81139282 81139280 WashU MTHFD1L 25902 genome.wustl.edu GRCh37 6 151358145 151358178 + frameshift_variant Frame_Shift_Del DEL TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA - novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA - TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367321.3:c.2739_2772del p.Leu914GlyfsTer14 p.L914Gfs*14 ENST00000367321 NM_001242768.1 913 tcTCTATCTCACCAACCTGACAAAAAAGGTGTGCCA/tc 0 Frame_Shift_Del TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA 54 MTHFD1L DEL 6 TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA - 151399871 151399838 WashU ALG11 440138 genome.wustl.edu GRCh37 13 52593272 52593272 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C G C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000521508.1:c.268C>G p.Gln90Glu p.Q90E ENST00000521508 NM_001004127.2 90 Cag/Gag 0 Missense_Mutation C 25 ALG11 SNP 13 G C 51491273 51491273 WashU GNPAT 8443 genome.wustl.edu GRCh37 1 231408063 231408063 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366647.4:c.1528G>T p.Val510Phe p.V510F ENST00000366647 NM_014236.3 510 Gtc/Ttc 0 Missense_Mutation G 48 GNPAT SNP 1 G T 229474686 229474686 WashU WDR78 79819 genome.wustl.edu GRCh37 1 67359088 67359088 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371026.3:c.354C>A p.Asp118Glu p.D118E ENST00000371026 NM_024763.4 118 gaC/gaA 0 Missense_Mutation G 48 WDR78 SNP 1 G T 67131676 67131676 WashU PALD1 27143 genome.wustl.edu GRCh37 10 72298071 72298071 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263563.6:c.1359G>T p.Trp453Cys p.W453C ENST00000263563 NM_014431.2 453 tgG/tgT 0 Missense_Mutation G 42 KIAA1274 SNP 10 G T 71968077 71968077 WashU P2RY6 5031 genome.wustl.edu GRCh37 11 73008401 73008401 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393590.2:c.838G>T p.Ala280Ser p.A280S ENST00000393590 NM_001277208.1 280 Gca/Tca 0 Missense_Mutation G 46 P2RY6 SNP 11 G T 72686049 72686049 WashU OTOP3 347741 genome.wustl.edu GRCh37 17 72943550 72943550 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328801.4:c.1600C>T p.Leu534Phe p.L534F ENST00000328801 NM_001272005.1 534 Ctc/Ttc 0 Missense_Mutation C 24 OTOP3 SNP 17 T T 70455145 70455145 WashU MYOM1 8736 genome.wustl.edu GRCh37 18 3102608 3102608 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356443.4:c.3439A>C p.Asn1147His p.N1147H ENST00000356443 NM_019856.1 1147 Aat/Cat 0 Missense_Mutation T 64 MYOM1 SNP 18 T G 3092608 3092608 WashU CCDC105 126402 genome.wustl.edu GRCh37 19 15133816 15133816 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000292574.3:c.1385G>A p.Arg462His p.R462H ENST00000292574 NM_173482.2 462 cGc/cAc 0 Missense_Mutation G 38 CCDC105 SNP 19 G A 14994816 14994816 WashU SUPT5H 6829 genome.wustl.edu GRCh37 19 39959910 39959910 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000599117.1:c.1246C>T p.Arg416Trp p.R416W ENST00000599117 416 Cgg/Tgg 0 Missense_Mutation C 27 SUPT5H SNP 19 C T 44651750 44651750 WashU APOB 338 genome.wustl.edu GRCh37 2 21260914 21260914 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000233242.1:c.453T>C p.Thr151= p.T151= ENST00000233242 NM_000384.2 151 acT/acC 0 Silent A 3 APOB SNP 2 A G 21114419 21114419 WashU IFT52 51098 genome.wustl.edu GRCh37 20 42264597 42264597 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373030.3:c.955C>G p.Pro319Ala p.P319A ENST00000373030 NM_016004.2 319 Cca/Gca 0 Missense_Mutation C 18 IFT52 SNP 20 C G 41698011 41698011 WashU ZDHHC19 131540 genome.wustl.edu GRCh37 3 195938140 195938140 + missense_variant Missense_Mutation SNP G G A Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000296326.3:c.47C>T p.Pro16Leu p.P16L ENST00000296326 NM_001039617.1 16 cCc/cTc 0 Missense_Mutation G 43 ZDHHC19 SNP 3 G A 197422537 197422537 WashU EPHA1 2041 genome.wustl.edu GRCh37 7 143088585 143088585 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000275815.3:c.2896C>T p.Arg966Cys p.R966C ENST00000275815 NM_005232.4 966 Cgc/Tgc 0 Missense_Mutation G 38 EPHA1 SNP 7 G A 142798707 142798707 WashU DPP6 1804 genome.wustl.edu GRCh37 7 154379449 154379449 + intron_variant Intron SNP T T A novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377770.3:c.628-50082T>A *210* ENST00000377770 0 Nonsense_Mutation T 58 DPP6 SNP 7 T A 154010382 154010382 WashU SLC30A8 169026 genome.wustl.edu GRCh37 8 118184798 118184798 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000456015.2:c.988G>C p.Val330Leu p.V330L ENST00000456015 NM_173851.2 330 Gtt/Ctt 0 Missense_Mutation G 44 SLC30A8 SNP 8 G C 118253979 118253979 WashU CSMD1 64478 genome.wustl.edu GRCh37 8 2815251 2815251 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1497-01 TCGA-13-1497-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000537824.1:c.9781T>A p.Leu3261Ile p.L3261I ENST00000537824 NM_033225.5 3261 Tta/Ata 0 Missense_Mutation A 1 CSMD1 SNP 8 A T 2802658 2802658 WashU DUSP22 56940 genome.wustl.edu GRCh37 6 348818 348818 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000344450.5:c.485C>T p.Ala162Val p.A162V ENST00000344450 NM_020185.3 162 gCa/gTa 0 Missense_Mutation C 25 DUSP22 SNP 6 C T 293818 293818 WashU CACNA1C 775 genome.wustl.edu GRCh37 12 2613667 2613667 + intron_variant Intron SNP C C A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000347598.4:c.1114-341C>A *372* ENST00000347598 NM_199460.2 0 Silent C 24 CACNA1C SNP 12 C A 2483928 2483928 WashU CATSPERD 257062 genome.wustl.edu GRCh37 19 5771046 5771046 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381624.3:c.1726G>A p.Val576Ile p.V576I ENST00000381624 NM_152784.3 576 Gtc/Atc 0 Missense_Mutation G 40 TMEM146 SNP 19 G A 5722046 5722046 WashU PARN 5073 genome.wustl.edu GRCh37 16 14649545 14649545 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000437198.2:c.1284G>C p.Met428Ile p.M428I ENST00000437198 NM_002582.3 428 atG/atC 0 Missense_Mutation C 21 PARN SNP 16 C G 14557046 14557046 WashU KCNS3 3790 genome.wustl.edu GRCh37 2 18113665 18113665 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000403915.1:c.1390G>A p.Asp464Asn p.D464N ENST00000403915 NM_001282428.1 464 Gat/Aat 0 Missense_Mutation G 37 KCNS3 SNP 2 G A 17977146 17977146 WashU RP11-2F9.3 genome.wustl.edu GRCh37 15 22440380 22440380 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000460876.2:n.469C>T *157* ENST00000460876 0 Missense_Mutation G 42 LOC388076 SNP 15 G A 19941744 19941744 WashU KLHL9 55958 genome.wustl.edu GRCh37 9 21333117 21333117 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000359039.4:c.1742C>T p.Pro581Leu p.P581L ENST00000359039 581 cCa/cTa 0 Missense_Mutation G 47 KLHL9 SNP 9 G A 21323117 21323117 WashU KLHL9 55958 genome.wustl.edu GRCh37 9 21334331 21334331 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000359039.4:c.528C>T p.Phe176= p.F176= ENST00000359039 176 ttC/ttT 0 Silent G 45 KLHL9 SNP 9 G A 21324331 21324331 WashU PTCHD1 139411 genome.wustl.edu GRCh37 X 23411676 23411676 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379361.4:c.2041G>A p.Val681Ile p.V681I ENST00000379361 NM_173495.2 681 Gtc/Atc 0 Missense_Mutation G 40 PTCHD1 SNP 23 G A 23321597 23321597 WashU MYO3A 53904 genome.wustl.edu GRCh37 10 26463053 26463053 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265944.5:c.3860C>A p.Pro1287His p.P1287H ENST00000265944 NM_017433.4 1287 cCt/cAt 0 Missense_Mutation C 24 MYO3A SNP 10 C A 26503059 26503059 WashU KIF18A 81930 genome.wustl.edu GRCh37 11 28058014 28058014 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263181.6:c.2146A>T p.Asn716Tyr p.N716Y ENST00000263181 NM_031217.3 716 Aat/Tat 0 Missense_Mutation T 64 KIF18A SNP 11 T A 28014590 28014590 WashU MECR 51102 genome.wustl.edu GRCh37 1 29528552 29528552 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000263702.6:c.659A>T p.Asp220Val p.D220V ENST00000263702 220 gAt/gTt 0 Missense_Mutation T 50 MECR SNP 1 T A 29401139 29401139 WashU KRT23 25984 genome.wustl.edu GRCh37 17 39081622 39081622 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000209718.3:c.1126G>T p.Glu376Ter p.E376* ENST00000209718 NM_015515.3 376 Gag/Tag 0 Nonsense_Mutation C 30 KRT23 SNP 17 C A 36335148 36335148 WashU CNTNAP3 79937 genome.wustl.edu GRCh37 9 39086820 39086820 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297668.6:c.3247G>C p.Asp1083His p.D1083H ENST00000297668 NM_033655.3 1083 Gat/Cat 0 Missense_Mutation C 32 CNTNAP3 SNP 9 C G 39076820 39076820 WashU TRAK1 22906 genome.wustl.edu GRCh37 3 42235383 42235383 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327628.5:c.968C>G p.Thr323Arg p.T323R ENST00000327628 NM_001042646.2 323 aCa/aGa 0 Missense_Mutation C 17 TRAK1 SNP 3 C G 42210387 42210387 WashU CYP2B7P 1556 genome.wustl.edu GRCh37 19 41447223 41447223 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000599198.1:n.722T>C *241* ENST00000599198 0 Missense_Mutation T 62 CYP2B7P1 SNP 19 T C 46139063 46139063 WashU N4BP1 9683 genome.wustl.edu GRCh37 16 48595211 48595211 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262384.3:c.1343A>G p.Lys448Arg p.K448R ENST00000262384 NM_153029.3 448 aAa/aGa 0 Missense_Mutation T 64 N4BP1 SNP 16 T C 47152712 47152712 WashU PARG 8505 genome.wustl.edu GRCh37 10 51069692 51069692 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000402038.3:c.692C>T p.Thr231Ile p.T231I ENST00000402038 NM_003631.2 231 aCa/aTa 0 Missense_Mutation G 48 PARG SNP 10 G A 50739698 50739698 WashU KIT 3815 genome.wustl.edu GRCh37 4 55602954 55602954 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000288135.5:c.2664G>A p.Arg888= p.R888= ENST00000288135 NM_000222.2 888 cgG/cgA 0 Silent G 41 KIT SNP 4 G A 55297711 55297711 WashU FAM111A 63901 genome.wustl.edu GRCh37 11 58920334 58920334 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000528737.1:c.1193G>C p.Ser398Thr p.S398T ENST00000528737 398 aGt/aCt 0 Missense_Mutation G 36 FAM111A SNP 11 G C 58676910 58676910 WashU OOSP2 219990 genome.wustl.edu GRCh37 11 59811021 59811021 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000278855.2:c.144G>A p.Ala48= p.A48= ENST00000278855 NM_173801.3 48 gcG/gcA 0 Silent G 39 PLAC1L SNP 11 G A 59567597 59567597 WashU LOC646014 646014 genome.wustl.edu GRCh37 17 62764149 62764149 + intron_variant,non_coding_transcript_variant Intron SNP C C T novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C T T C T Unknown Valid LOH 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400873.3:n.1020-3483G>A *340* ENST00000400873 0 Missense_Mutation C 23 LOC646014 SNP 17 T T 60194611 60194611 WashU ANK3 288 genome.wustl.edu GRCh37 10 61967903 61967903 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000280772.2:c.1085A>G p.Asp362Gly p.D362G ENST00000280772 NM_020987.3 362 gAt/gGt 0 Missense_Mutation T 50 ANK3 SNP 10 T C 61637909 61637909 WashU PEG3 5178 genome.wustl.edu GRCh37 19 57325380 57325380 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326441.9:c.4430G>T p.Gly1477Val p.G1477V ENST00000326441 NM_006210.2 1477 gGa/gTa 0 Missense_Mutation C 30 PEG3 SNP 19 C A 62017192 62017192 WashU ARHGEF9 23229 genome.wustl.edu GRCh37 X 62917093 62917093 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253401.6:c.473T>A p.Phe158Tyr p.F158Y ENST00000253401 NM_015185.2 158 tTt/tAt 0 Missense_Mutation A 1 ARHGEF9 SNP 23 A T 62833818 62833818 WashU DNA2 1763 genome.wustl.edu GRCh37 10 70182344 70182344 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399180.2:c.2678A>T p.Glu893Val p.E893V ENST00000399180 893 gAa/gTa 0 Missense_Mutation T 62 DNA2 SNP 10 T A 69852350 69852350 WashU COL19A1 1310 genome.wustl.edu GRCh37 6 70733536 70733536 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000322773.4:c.1044A>T p.Lys348Asn p.K348N ENST00000322773 NM_001858.4 348 aaA/aaT 0 Missense_Mutation A 3 COL19A1 SNP 6 A T 70790257 70790257 WashU TMEM174 134288 genome.wustl.edu GRCh37 5 72469177 72469177 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296776.5:c.107C>A p.Ala36Glu p.A36E ENST00000296776 NM_153217.2 36 gCg/gAg 0 Missense_Mutation C 27 TMEM174 SNP 5 C A 72504933 72504933 WashU GDA 9615 genome.wustl.edu GRCh37 9 74860096 74860096 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000238018.4:c.1168G>A p.Glu390Lys p.E390K ENST00000238018 390 Gaa/Aaa 0 Missense_Mutation G 45 GDA SNP 9 G A 74049916 74049916 WashU RIC8B 55188 genome.wustl.edu GRCh37 12 107208754 107208754 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392839.2:c.413T>G p.Leu138Arg p.L138R ENST00000392839 NM_018157.2 138 cTt/cGt 0 Missense_Mutation T 56 RIC8B SNP 12 T G 105732884 105732884 WashU MUSK 4593 genome.wustl.edu GRCh37 9 113530182 113530182 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374448.4:c.1003G>A p.Val335Ile p.V335I ENST00000374448 NM_005592.3 335 Gtt/Att 0 Missense_Mutation G 48 MUSK SNP 9 G A 112570003 112570003 WashU WDR5B 54554 genome.wustl.edu GRCh37 3 122133816 122133816 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330689.4:c.560A>G p.Tyr187Cys p.Y187C ENST00000330689 NM_019069.3 187 tAt/tGt 0 Missense_Mutation T 49 WDR5B SNP 3 T C 123616506 123616506 WashU DTX3L 151636 genome.wustl.edu GRCh37 3 122287985 122287985 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296161.4:c.1049T>A p.Ile350Asn p.I350N ENST00000296161 NM_138287.3 350 aTt/aAt 0 Missense_Mutation T 52 DTX3L SNP 3 T A 123770675 123770675 WashU TRDN 10345 genome.wustl.edu GRCh37 6 123869664 123869664 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398178.3:c.326T>A p.Leu109Ter p.L109* ENST00000398178 NM_006073.3 109 tTg/tAg 0 Nonsense_Mutation A 5 TRDN SNP 6 A T 123911363 123911363 WashU OR8A1 390275 genome.wustl.edu GRCh37 11 124440425 124440425 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000284287.3:c.461C>T p.Ser154Phe p.S154F ENST00000284287 NM_001005194.1 154 tCt/tTt 0 Missense_Mutation C 32 OR8A1 SNP 11 C T 123945635 123945635 WashU SETX 23064 genome.wustl.edu GRCh37 9 135202589 135202589 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000224140.5:c.4396G>T p.Gly1466Cys p.G1466C ENST00000224140 NM_015046.5 1466 Ggt/Tgt 0 Missense_Mutation C 22 SETX SNP 9 C A 134192410 134192410 WashU CLDN18 51208 genome.wustl.edu GRCh37 3 137742517 137742517 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000183605.5:c.238C>A p.Arg80= p.R80= ENST00000183605 NM_016369.3 80 Cga/Aga 0 Silent C 27 CLDN18 SNP 3 C A 139225207 139225207 WashU PCDHA3 56145 genome.wustl.edu GRCh37 5 140182138 140182138 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000522353.2:c.1356G>A p.Ala452= p.A452= ENST00000522353 NM_018906.2 452 gcG/gcA 0 Silent G 38 PCDHA3 SNP 5 G A 140162322 140162322 WashU TXNIP 10628 genome.wustl.edu GRCh37 1 145440070 145440070 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369317.4:c.504T>A p.Val168= p.V168= ENST00000369317 NM_006472.4 168 gtT/gtA 0 Silent T 64 TXNIP SNP 1 T A 144151427 144151427 WashU HORMAD1 84072 genome.wustl.edu GRCh37 1 150679068 150679068 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361824.2:c.765G>C p.Arg255Ser p.R255S ENST00000361824 NM_032132.4 255 agG/agC 0 Missense_Mutation C 22 HORMAD1 SNP 1 C G 148945692 148945692 WashU FLG 2312 genome.wustl.edu GRCh37 1 152286915 152286915 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368799.1:c.447G>A p.Gly149= p.G149= ENST00000368799 NM_002016.1 149 ggG/ggA 0 Silent C 30 FLG SNP 1 C T 150553539 150553539 WashU PTPRN2 5799 genome.wustl.edu GRCh37 7 157414128 157414128 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000389418.4:c.2270C>T p.Ala757Val p.A757V ENST00000389418 NM_002847.3 757 gCg/gTg 0 Missense_Mutation G 38 PTPRN2 SNP 7 G A 157106889 157106889 WashU SH3PXD2B 285590 genome.wustl.edu GRCh37 5 171777565 171777565 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311601.5:c.814G>T p.Ala272Ser p.A272S ENST00000311601 NM_001017995.2 272 Gcc/Tcc 0 Missense_Mutation C 27 SH3PXD2B SNP 5 C A 171710170 171710170 WashU BOD1 91272 genome.wustl.edu GRCh37 5 173036352 173036352 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311086.4:c.448G>A p.Glu150Lys p.E150K ENST00000311086 NM_138369.2 150 Gaa/Aaa 0 Missense_Mutation C 32 BOD1 SNP 5 C T 172968958 172968958 WashU CCDC141 285025 genome.wustl.edu GRCh37 2 179720257 179720257 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000420890.2:c.2877G>A p.Arg959= p.R959= ENST00000420890 NM_173648.3 959 agG/agA 0 Silent C 30 CCDC141 SNP 2 C T 179428502 179428502 WashU RGS18 64407 genome.wustl.edu GRCh37 1 192150457 192150457 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367460.3:c.319G>C p.Glu107Gln p.E107Q ENST00000367460 NM_130782.2 107 Gaa/Caa 0 Missense_Mutation G 45 RGS18 SNP 1 G C 190417080 190417080 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577599 7577600 + frameshift_variant Frame_Shift_Ins INS - - A novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 - - - A - - Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.681dup p.Asp228Ter p.D228* ENST00000269305 NM_001126112.2 227 -/T 0 Frame_Shift_Ins - 29 TP53 INS 17 - A 7518325 7518324 WashU NALCN 259232 genome.wustl.edu GRCh37 13 101944593 101944593 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000251127.6:c.924C>A p.Phe308Leu p.F308L ENST00000251127 NM_052867.2 308 ttC/ttA 0 Missense_Mutation G 41 NALCN SNP 13 G T 100742594 100742594 WashU MED25 81857 genome.wustl.edu GRCh37 19 50333062 50333062 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1418-01 TCGA-24-1418-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312865.6:c.545T>C p.Ile182Thr p.I182T ENST00000312865 NM_030973.3 182 aTt/aCt 0 Missense_Mutation T 52 MED25 SNP 19 T C 55024874 55024874 WashU FLG 2312 broad.mit.edu GRCh37 1 152278623 152278623 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000368799.1:c.8739A>C p.Arg2913Ser p.R2913S ENST00000368799 NM_002016.1 2913 agA/agC 0 Missense_Mutation T 62 FLG SNP 1 T G 150545247 150545247 Broad ATP1A4 480 broad.mit.edu GRCh37 1 160144384 160144384 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000368081.4:c.2158G>A p.Val720Met p.V720M ENST00000368081 NM_144699.3 720 Gtg/Atg 0 Missense_Mutation G 40 ATP1A4 SNP 1 G A 158411008 158411008 Broad C1orf111 284680 broad.mit.edu GRCh37 1 162344302 162344302 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000367935.5:c.322G>A p.Glu108Lys p.E108K ENST00000367935 NM_182581.3 108 Gag/Aag 0 Missense_Mutation C 32 C1orf111 SNP 1 C T 160610926 160610926 Broad KIAA1614 57710 broad.mit.edu GRCh37 1 180910290 180910290 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000367588.4:c.3028T>A p.Phe1010Ile p.F1010I ENST00000367588 NM_020950.1 1010 Ttc/Atc 0 Missense_Mutation T 56 KIAA1614 SNP 1 T A 179176913 179176913 Broad CAPN9 10753 broad.mit.edu GRCh37 1 230925911 230925911 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000271971.2:c.1633G>A p.Val545Ile p.V545I ENST00000271971 NM_006615.2 545 Gtt/Att 0 Missense_Mutation G 48 CAPN9 SNP 1 G A 228992534 228992534 Broad UBE2L6 9246 broad.mit.edu GRCh37 11 57327836 57327836 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000287156.4:c.97C>T p.Leu33= p.L33= ENST00000287156 NM_004223.4 33 Ctg/Ttg 0 Silent G 35 UBE2L6 SNP 11 G A 57084412 57084412 Broad TBX10 347853 broad.mit.edu GRCh37 11 67401659 67401659 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000335385.3:c.549+1G>T p.X183_splice ENST00000335385 NM_005995.4 0 Splice_Site_SNP C 19 TBX10 SNP 11 C A 67158235 67158235 Broad C12orf44 60673 broad.mit.edu GRCh37 12 52467645 52467645 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000336854.4:c.211G>A p.Glu71Lys p.E71K ENST00000336854 NM_021934.4 71 Gaa/Aaa 0 Missense_Mutation G 41 C12orf44 SNP 12 G A 50753912 50753912 Broad PPFIA2 8499 broad.mit.edu GRCh37 12 81671100 81671100 + synonymous_variant Silent SNP T T A novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000549396.1:c.3306A>T p.Ile1102= p.I1102= ENST00000549396 NM_003625.3 1102 atA/atT 0 Silent T 61 PPFIA2 SNP 12 T A 80195231 80195231 Broad RPGRIP1 57096 broad.mit.edu GRCh37 14 21811363 21811363 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000400017.2:c.3508G>A p.Glu1170Lys p.E1170K ENST00000400017 NM_020366.3 1170 Gaa/Aaa 0 Missense_Mutation G 33 RPGRIP1 SNP 14 G A 20881203 20881203 Broad CDC42BPB 9578 broad.mit.edu GRCh37 14 103411999 103411999 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000361246.2:c.3811G>C p.Val1271Leu p.V1271L ENST00000361246 NM_006035.3 1271 Gtg/Ctg 0 Missense_Mutation C 21 CDC42BPB SNP 14 C G 102481752 102481752 Broad AGBL1 123624 broad.mit.edu GRCh37 15 87097704 87097704 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000441037.2:c.2792T>C p.Met931Thr p.M931T ENST00000441037 NM_152336.2 931 aTg/aCg 0 Missense_Mutation T 51 AGBL1 SNP 15 T C 84898708 84898708 Broad PRPF8 10594 broad.mit.edu GRCh37 17 1563792 1563792 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000572621.1:c.4719C>T p.Leu1573= p.L1573= ENST00000572621 1573 ctC/ctT 0 Silent G 45 PRPF8 SNP 17 G A 1510542 1510542 Broad G6PC3 92579 broad.mit.edu GRCh37 17 42152691 42152691 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000269097.4:c.549C>T p.Gly183= p.G183= ENST00000269097 NM_138387.3 183 ggC/ggT 0 Silent C 28 G6PC3 SNP 17 C T 39508217 39508217 Broad RPRD1A 55197 broad.mit.edu GRCh37 18 33606959 33606959 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000399022.4:c.693G>A p.Ala231= p.A231= ENST00000399022 NM_018170.3 231 gcG/gcA 0 Silent C 23 RPRD1A SNP 18 C T 31860957 31860957 Broad OR10H1 26539 broad.mit.edu GRCh37 19 15918819 15918819 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000334920.2:c.29C>G p.Thr10Ser p.T10S ENST00000334920 NM_013940.2 10 aCc/aGc 0 Missense_Mutation G 44 OR10H1 SNP 19 G C 15779819 15779819 Broad NUMBL 9253 broad.mit.edu GRCh37 19 41183323 41183323 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000252891.4:c.544G>A p.Glu182Lys p.E182K ENST00000252891 NM_004756.3 182 Gag/Aag 0 Missense_Mutation C 31 NUMBL SNP 19 C T 45875163 45875163 Broad SP3 6670 broad.mit.edu GRCh37 2 174820592 174820592 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000310015.6:c.648C>T p.Ala216= p.A216= ENST00000310015 NM_001172712.1 216 gcC/gcT 0 Silent G 35 SP3 SNP 2 G A 174528838 174528838 Broad ALS2 57679 broad.mit.edu GRCh37 2 202598095 202598095 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000264276.6:c.2484G>A p.Gln828= p.Q828= ENST00000264276 NM_020919.3 828 caG/caA 0 Silent C 20 ALS2 SNP 2 C T 202306340 202306340 Broad THBD 7056 broad.mit.edu GRCh37 20 23028780 23028780 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000377103.2:c.1362G>A p.Val454= p.V454= ENST00000377103 NM_000361.2 454 gtG/gtA 0 Silent C 17 THBD SNP 20 C T 22976780 22976780 Broad CASS4 57091 broad.mit.edu GRCh37 20 55027724 55027724 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000371336.3:c.1492C>T p.Arg498Ter p.R498* ENST00000371336 NM_001164114.1 498 Cga/Tga 0 Nonsense_Mutation C 23 CASS4 SNP 20 C T 54461131 54461131 Broad TTC14 151613 broad.mit.edu GRCh37 3 180327617 180327617 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000296015.4:c.1600G>C p.Asp534His p.D534H ENST00000296015 NM_133462.3 534 Gat/Cat 0 Missense_Mutation G 33 TTC14 SNP 3 G C 181810311 181810311 Broad RAB28 9364 broad.mit.edu GRCh37 4 13370264 13370264 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000330852.5:c.584A>C p.Lys195Thr p.K195T ENST00000330852 NM_001017979.2 195 aAg/aCg 0 Missense_Mutation T 56 RAB28 SNP 4 T G 12979362 12979362 Broad COL25A1 84570 broad.mit.edu GRCh37 4 109780842 109780842 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000399132.1:c.1290C>G p.Asp430Glu p.D430E ENST00000399132 NM_198721.2 430 gaC/gaG 0 Missense_Mutation G 36 COL25A1 SNP 4 G C 110000291 110000291 Broad MAST4 375449 broad.mit.edu GRCh37 5 66459554 66459554 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000403625.2:c.4547G>A p.Arg1516Gln p.R1516Q ENST00000403625 NM_001164664.1 1516 cGg/cAg 0 Missense_Mutation G 39 MAST4 SNP 5 G A 66495310 66495310 Broad PRSS16 10279 broad.mit.edu GRCh37 6 27222621 27222621 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000230582.3:c.1300C>G p.Pro434Ala p.P434A ENST00000230582 NM_005865.3 434 Cct/Gct 0 Missense_Mutation C 22 PRSS16 SNP 6 C G 27330600 27330600 Broad FUT9 10690 broad.mit.edu GRCh37 6 96651664 96651664 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000302103.5:c.633A>C p.Lys211Asn p.K211N ENST00000302103 NM_006581.3 211 aaA/aaC 0 Missense_Mutation A 1 FUT9 SNP 6 A C 96758385 96758385 Broad KIAA1919 91749 broad.mit.edu GRCh37 6 111587424 111587424 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000368847.4:c.659C>T p.Thr220Ile p.T220I ENST00000368847 NM_153369.2 220 aCa/aTa 0 Missense_Mutation C 17 KIAA1919 SNP 6 C T 111694117 111694117 Broad ADCY1 107 broad.mit.edu GRCh37 7 45697429 45697429 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000297323.7:c.1252G>A p.Val418Met p.V418M ENST00000297323 NM_021116.2 418 Gtg/Atg 0 Missense_Mutation G 40 ADCY1 SNP 7 G A 45663954 45663954 Broad VSTM2A 222008 broad.mit.edu GRCh37 7 54612358 54612358 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000407838.3:c.123G>T p.Gly41= p.G41= ENST00000407838 NM_182546.2 41 ggG/ggT 0 Silent G 42 VSTM2A SNP 7 G T 54579852 54579852 Broad CCDC132 55610 broad.mit.edu GRCh37 7 92970856 92970856 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000305866.5:c.2176T>C p.Leu726= p.L726= ENST00000305866 NM_017667.3 726 Ttg/Ctg 0 Silent T 60 CCDC132 SNP 7 T C 92808792 92808792 Broad SHARPIN 81858 broad.mit.edu GRCh37 8 145153890 145153890 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000398712.2:c.1055G>A p.Trp352Ter p.W352* ENST00000398712 NM_030974.3 352 tGg/tAg 0 Nonsense_Mutation C 21 SHARPIN SNP 8 C T 145225878 145225878 Broad DNAJB5 25822 broad.mit.edu GRCh37 9 34997056 34997056 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000453597.3:c.1189A>C p.Ile397Leu p.I397L ENST00000453597 NM_001135004.2 397 Atc/Ctc 0 Missense_Mutation A 16 DNAJB5 SNP 9 A C 34987056 34987056 Broad GPR119 139760 broad.mit.edu GRCh37 X 129518566 129518566 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown x x x ENST00000276218.2:c.856G>T p.Val286Leu p.V286L ENST00000276218 NM_178471.2 286 Gtg/Ttg 0 Missense_Mutation C 18 GPR119 SNP 23 C A 129346247 129346247 Broad TP53 7157 broad.mit.edu GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 Missense_Mutation T 49 TP53 SNP 17 T C 7518915 7518915 Broad NNT 23530 broad.mit.edu GRCh37 5 43616078 43616078 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-61-1728-01 TCGA-61-1728-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000264663.5:c.514del p.Thr172LeufsTer21 p.T172Lfs*21 ENST00000264663 NM_012343.3 170 agA/ag 0 Frame_Shift_Del A 9 NNT DEL 5 - A 43651835 43651835 Broad ACADVL 37 hgsc.bcm.edu GRCh37 17 7127350 7127350 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000543245.2:c.1465G>A p.Asp489Asn p.D489N ENST00000543245 NM_001270447.1 489 Gac/Aac 0 Missense_Mutation G 45 ACADVL SNP 17 G A 7068074 7068074 Baylor AHNAK 79026 hgsc.bcm.edu GRCh37 11 62298437 62298437 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000378024.4:c.3452C>G p.Pro1151Arg p.P1151R ENST00000378024 NM_001620.2 1151 cCt/cGt 0 Missense_Mutation G 35 AHNAK SNP 11 G C 62055013 62055013 Baylor AKAP12 9590 hgsc.bcm.edu GRCh37 6 151627040 151627040 + splice_donor_variant Splice_Site SNP T T G novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000402676.2:c.319+2T>G p.X107_splice ENST00000402676 NM_005100.3 0 Splice_Site_SNP T 57 AKAP12 SNP 6 T G 151668733 151668733 Baylor AKR1B1 231 hgsc.bcm.edu GRCh37 7 134135631 134135631 + synonymous_variant Silent SNP C C T novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000285930.4:c.258G>A p.Lys86= p.K86= ENST00000285930 NM_001628.2 86 aaG/aaA 0 Silent C 24 AKR1B1 SNP 7 C T 133786171 133786171 Baylor ARFGAP1 55738 hgsc.bcm.edu GRCh37 20 61907471 61907471 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000353546.3:c.89C>G p.Pro30Arg p.P30R ENST00000353546 NM_175609.2 30 cCt/cGt 0 Missense_Mutation C 24 ARFGAP1 SNP 20 C G 61377916 61377916 Baylor ARIH2 10425 hgsc.bcm.edu GRCh37 3 49012255 49012255 + synonymous_variant Silent SNP C C T novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000356401.4:c.894C>T p.Pro298= p.P298= ENST00000356401 NM_006321.2 298 ccC/ccT 0 Silent C 21 ARIH2 SNP 3 C T 48987259 48987259 Baylor CAMTA1 23261 hgsc.bcm.edu GRCh37 1 7737695 7737695 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000303635.7:c.2816T>A p.Phe939Tyr p.F939Y ENST00000303635 NM_015215.2 939 tTc/tAc 0 Missense_Mutation T 62 CAMTA1 SNP 1 T A 7660282 7660282 Baylor CFHR2 3080 hgsc.bcm.edu GRCh37 1 196918732 196918732 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367415.5:c.206G>A p.Arg69His p.R69H ENST00000367415 NM_005666.2 69 cGc/cAc 0 Missense_Mutation G 38 CFHR2 SNP 1 G A 195185355 195185355 Baylor CHRNA6 8973 hgsc.bcm.edu GRCh37 8 42611054 42611054 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000276410.2:c.1288G>T p.Glu430Ter p.E430* ENST00000276410 NM_004198.3 430 Gaa/Taa 0 Nonsense_Mutation C 29 CHRNA6 SNP 8 C A 42730211 42730211 Baylor CIZ1 25792 hgsc.bcm.edu GRCh37 9 130941075 130941075 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393608.1:c.1411G>A p.Val471Met p.V471M ENST00000393608 NM_012127.2 471 Gtg/Atg 0 Missense_Mutation C 18 CIZ1 SNP 9 C T 129980896 129980896 Baylor COX4I2 84701 hgsc.bcm.edu GRCh37 20 30226830 30226830 + synonymous_variant Silent SNP A A C novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000376075.3:c.10A>C p.Arg4= p.R4= ENST00000376075 NM_032609.2 4 Aga/Cga 0 Silent A 7 COX4I2 SNP 20 A C 29690491 29690491 Baylor CRB1 23418 hgsc.bcm.edu GRCh37 1 197411330 197411330 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367400.3:c.3913C>G p.Pro1305Ala p.P1305A ENST00000367400 NM_201253.2 1305 Ccg/Gcg 0 Missense_Mutation C 30 CRB1 SNP 1 C G 195677953 195677953 Baylor DBF4B 80174 hgsc.bcm.edu GRCh37 17 42818777 42818777 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000315005.3:c.787C>G p.Pro263Ala p.P263A ENST00000315005 NM_145663.2 263 Ccc/Gcc 0 Missense_Mutation C 30 DBF4B SNP 17 C G 40174303 40174303 Baylor GABRQ 55879 hgsc.bcm.edu GRCh37 X 151815600 151815600 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000370306.2:c.498C>G p.His166Gln p.H166Q ENST00000370306 NM_018558.3 166 caC/caG 0 Missense_Mutation C 18 GABRQ SNP 23 C G 151566256 151566256 Baylor GGA3 23163 hgsc.bcm.edu GRCh37 17 73236436 73236436 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000245541.6:c.1250G>A p.Trp417Ter p.W417* ENST00000245541 NM_138619.2 417 tGg/tAg 0 Nonsense_Mutation C 21 GGA3 SNP 17 C T 70748031 70748031 Baylor GRIA1 2890 hgsc.bcm.edu GRCh37 5 153190663 153190663 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000518783.1:c.2629G>T p.Ala877Ser p.A877S ENST00000518783 NM_001258021.1 877 Gcc/Tcc 0 Missense_Mutation G 34 GRIA1 SNP 5 G T 153170856 153170856 Baylor HIPK3 10114 hgsc.bcm.edu GRCh37 11 33374958 33374958 + synonymous_variant Silent SNP C C T novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000303296.4:c.3492C>T p.Val1164= p.V1164= ENST00000303296 NM_005734.4 1164 gtC/gtT 0 Silent C 30 HIPK3 SNP 11 C T 33331534 33331534 Baylor KBTBD4 55709 hgsc.bcm.edu GRCh37 11 47594667 47594667 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000430070.2:c.1420G>C p.Glu474Gln p.E474Q ENST00000430070 NM_018095.4 474 Gag/Cag 0 Missense_Mutation C 29 KBTBD4 SNP 11 C G 47551243 47551243 Baylor KCNA6 3742 hgsc.bcm.edu GRCh37 12 4920006 4920006 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000433855.1:c.799G>C p.Glu267Gln p.E267Q ENST00000433855 NM_002235.3 267 Gag/Cag 0 Missense_Mutation G 41 KCNA6 SNP 12 G C 4790267 4790267 Baylor KLHL20 27252 hgsc.bcm.edu GRCh37 1 173743507 173743507 + synonymous_variant Silent SNP G G C novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000209884.4:c.1359G>C p.Val453= p.V453= ENST00000209884 NM_014458.3 453 gtG/gtC 0 Silent G 47 KLHL20 SNP 1 G C 172010130 172010130 Baylor LAMA2 3908 hgsc.bcm.edu GRCh37 6 129748970 129748970 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000421865.2:c.5939A>T p.Glu1980Val p.E1980V ENST00000421865 NM_001079823.1 1980 gAa/gTa 0 Missense_Mutation A 9 LAMA2 SNP 6 A T 129790663 129790663 Baylor LAMB4 22798 hgsc.bcm.edu GRCh37 7 107748113 107748113 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000388781.3:c.554C>A p.Ser185Tyr p.S185Y ENST00000388781 NM_007356.2 185 tCc/tAc 0 Missense_Mutation G 41 LAMB4 SNP 7 G T 107535349 107535349 Baylor PIK3R1 5295 hgsc.bcm.edu GRCh37 5 67588086 67588086 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000274335.5:c.917-1G>C p.X306_splice ENST00000274335 0 Splice_Site_SNP G 34 PIK3R1 SNP 5 G C 67623842 67623842 Baylor PPWD1 23398 hgsc.bcm.edu GRCh37 5 64872833 64872833 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261308.5:c.1097C>G p.Thr366Ser p.T366S ENST00000261308 NM_001278927.1 366 aCt/aGt 0 Missense_Mutation C 20 PPWD1 SNP 5 C G 64908589 64908589 Baylor RORB 6096 hgsc.bcm.edu GRCh37 9 77286722 77286722 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000376896.3:c.1129G>T p.Glu377Ter p.E377* ENST00000376896 NM_006914.3 377 Gaa/Taa 0 Nonsense_Mutation G 33 RORB SNP 9 G T 76476542 76476542 Baylor SCRIB 23513 hgsc.bcm.edu GRCh37 8 144890926 144890926 + synonymous_variant Silent SNP C C T novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000356994.2:c.1968G>A p.Arg656= p.R656= ENST00000356994 NM_182706.4 656 cgG/cgA 0 Silent C 22 SCRIB SNP 8 C T 144962914 144962914 Baylor TAS2R42 353164 hgsc.bcm.edu GRCh37 12 11338781 11338781 + missense_variant Missense_Mutation SNP C C A rs1669413 Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000334266.1:c.763G>T p.Gly255Trp p.G255W ENST00000334266 NM_181429.1 255 Ggg/Tgg 0 Missense_Mutation C 21 TAS2R42 SNP 12 C A 11230048 11230048 Baylor TMEM176A 55365 hgsc.bcm.edu GRCh37 7 150500785 150500785 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000484928.1:c.420C>A p.Phe140Leu p.F140L ENST00000484928 140 ttC/ttA 0 Missense_Mutation C 30 TMEM176A SNP 7 C A 150131718 150131718 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578403 7578403 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.527G>A p.Cys176Tyr p.C176Y ENST00000269305 NM_001126112.2 176 tGc/tAc 0 Missense_Mutation C 25 TP53 SNP 17 C T 7519128 7519128 Baylor TRIM23 373 hgsc.bcm.edu GRCh37 5 64905203 64905203 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000231524.9:c.911A>G p.Glu304Gly p.E304G ENST00000231524 NM_001656.3 304 gAa/gGa 0 Missense_Mutation T 62 TRIM23 SNP 5 T C 64940959 64940959 Baylor WDR78 79819 hgsc.bcm.edu GRCh37 1 67292619 67292619 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371026.3:c.2223G>T p.Leu741Phe p.L741F ENST00000371026 NM_024763.4 741 ttG/ttT 0 Missense_Mutation C 29 WDR78 SNP 1 C A 67065207 67065207 Baylor ZNF615 284370 hgsc.bcm.edu GRCh37 19 52496212 52496212 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-57-1584-01 TCGA-57-1584-11 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000594083.1:c.2150G>A p.Arg717Lys p.R717K ENST00000594083 717 aGg/aAg 0 Missense_Mutation C 24 ZNF615 SNP 19 C T 57188024 57188024 Baylor HIVEP3 59269 broad.mit.edu GRCh37 1 42049463 42049463 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000372583.1:c.1006G>T p.Glu336Ter p.E336* ENST00000372583 NM_024503.4 336 Gaa/Taa 0 Nonsense_Mutation C 31 HIVEP3 SNP 1 C A 41822050 41822050 Broad CCAR1 55749 broad.mit.edu GRCh37 10 70515218 70515218 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000265872.6:c.1550C>A p.Pro517His p.P517H ENST00000265872 NM_018237.2 517 cCc/cAc 0 Missense_Mutation C 22 CCAR1 SNP 10 C A 70185224 70185224 Broad PYGM 5837 broad.mit.edu GRCh37 11 64520595 64520595 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000164139.3:c.1468C>T p.Arg490Trp p.R490W ENST00000164139 NM_005609.2 490 Cgg/Tgg 0 Missense_Mutation G 37 PYGM SNP 11 G A 64277171 64277171 Broad CPT1A 1374 broad.mit.edu GRCh37 11 68552431 68552431 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000265641.5:c.1015C>T p.Arg339Ter p.R339* ENST00000265641 NM_001876.3 339 Cga/Tga 0 Nonsense_Mutation G 37 CPT1A SNP 11 G A 68309007 68309007 Broad ATN1 1822 broad.mit.edu GRCh37 12 7044854 7044854 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000356654.4:c.424G>A p.Glu142Lys p.E142K ENST00000356654 NM_001007026.1 142 Gag/Aag 0 Missense_Mutation G 41 ATN1 SNP 12 G A 6915115 6915115 Broad KL 9365 broad.mit.edu GRCh37 13 33635040 33635040 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000380099.3:c.1824G>C p.Gln608His p.Q608H ENST00000380099 NM_004795.3 608 caG/caC 0 Missense_Mutation G 36 KL SNP 13 G C 32533040 32533040 Broad UGGT2 55757 broad.mit.edu GRCh37 13 96536926 96536926 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000376747.3:c.3047G>A p.Arg1016His p.R1016H ENST00000376747 NM_020121.3 1016 cGt/cAt 0 Missense_Mutation C 19 UGGT2 SNP 13 C T 95334927 95334927 Broad PIGH 5283 broad.mit.edu GRCh37 14 68060621 68060621 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000216452.4:c.229C>T p.Leu77Phe p.L77F ENST00000216452 NM_004569.3 77 Ctt/Ttt 0 Missense_Mutation G 34 PIGH SNP 14 G A 67130374 67130374 Broad ZFYVE26 23503 broad.mit.edu GRCh37 14 68274475 68274475 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000347230.4:c.526C>G p.Leu176Val p.L176V ENST00000347230 NM_015346.3 176 Ctt/Gtt 0 Missense_Mutation G 34 ZFYVE26 SNP 14 G C 67344228 67344228 Broad EIF2B2 8892 broad.mit.edu GRCh37 14 75475852 75475852 + synonymous_variant Silent SNP G G A novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000266126.5:c.1017G>A p.Leu339= p.L339= ENST00000266126 NM_014239.3 339 ctG/ctA 0 Silent G 45 EIF2B2 SNP 14 G A 74545605 74545605 Broad SCNN1G 6340 broad.mit.edu GRCh37 16 23208729 23208729 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000300061.2:c.1058C>A p.Thr353Asn p.T353N ENST00000300061 NM_001039.3 353 aCc/aAc 0 Missense_Mutation C 18 SCNN1G SNP 16 C A 23116230 23116230 Broad MAZ 4150 broad.mit.edu GRCh37 16 29820861 29820861 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000219782.6:c.1280G>C p.Gly427Ala p.G427A ENST00000219782 NM_001042539.2 427 gGc/gCc 0 Missense_Mutation G 42 MAZ SNP 16 G C 29728362 29728362 Broad TP53 7157 broad.mit.edu GRCh37 17 7576852 7576852 + splice_donor_variant Splice_Site SNP C C A rs11575997 Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.993+1G>T p.X331_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 18 TP53 SNP 17 C A 7517577 7517577 Broad RDM1 201299 broad.mit.edu GRCh37 17 34251748 34251748 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000293273.6:c.428G>T p.Arg143Met p.R143M ENST00000293273 NM_145654.3 143 aGg/aTg 0 Missense_Mutation C 24 RDM1 SNP 17 C A 31275861 31275861 Broad LMNB2 84823 broad.mit.edu GRCh37 19 2432480 2432480 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000325327.3:c.1524G>A p.Leu508= p.L508= ENST00000325327 508 ttG/ttA 0 Silent C 21 LMNB2 SNP 19 C T 2383480 2383480 Broad CALR 811 broad.mit.edu GRCh37 19 13051239 13051239 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000316448.5:c.675C>T p.Ile225= p.I225= ENST00000316448 NM_004343.3 225 atC/atT 0 Silent C 31 CALR SNP 19 C T 12912239 12912239 Broad LILRA6 79168 broad.mit.edu GRCh37 19 54744358 54744358 + stop_gained Nonsense_Mutation SNP A A C rs1052992 Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000396365.2:c.1050T>G p.Tyr350Ter p.Y350* ENST00000396365 NM_024318.2 350 taT/taG 0 Nonsense_Mutation A 4 LILRA6 SNP 19 A C 59436170 59436170 Broad EIF2AK2 5610 broad.mit.edu GRCh37 2 37341969 37341969 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000233057.4:c.1282G>A p.Val428Ile p.V428I ENST00000233057 NM_001135651.2 428 Gta/Ata 0 Missense_Mutation C 20 EIF2AK2 SNP 2 C T 37195473 37195473 Broad VARS2 57176 broad.mit.edu GRCh37 6 30890923 30890923 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000541562.1:c.2318G>A p.Arg773Gln p.R773Q ENST00000541562 NM_001167734.1 773 cGa/cAa 0 Missense_Mutation G 37 VARS2 SNP 6 G A 30998902 30998902 Broad RIMS1 22999 broad.mit.edu GRCh37 6 73043331 73043331 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000521978.1:c.4159C>T p.Arg1387Trp p.R1387W ENST00000521978 NM_014989.5 1387 Cgg/Tgg 0 Missense_Mutation C 19 RIMS1 SNP 6 C T 73100052 73100052 Broad EPDR1 54749 broad.mit.edu GRCh37 7 37960300 37960301 + 5_prime_UTR_variant 5'UTR DNP CA CA AT novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000199448.4:c.-242_-241delinsAT *81* ENST00000199448 NM_017549.4 0 Missense_Mutation CA 21 EPDR1 DNP 7 CA AT 37926826 37926825 Broad CSMD3 114788 broad.mit.edu GRCh37 8 113314169 113314169 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000297405.5:c.8293C>A p.Pro2765Thr p.P2765T ENST00000297405 NM_198123.1 2765 Cct/Act 0 Missense_Mutation G 44 CSMD3 SNP 8 G T 113383345 113383345 Broad TSNARE1 203062 broad.mit.edu GRCh37 8 143425334 143425334 + synonymous_variant Silent SNP C C T novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000307180.3:c.738G>A p.Pro246= p.P246= ENST00000307180 NM_145003.3 246 ccG/ccA 0 Silent C 27 TSNARE1 SNP 8 C T 143423241 143423241 Broad CYP11B1 1584 broad.mit.edu GRCh37 8 143956507 143956507 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000292427.4:c.1264C>G p.Arg422Gly p.R422G ENST00000292427 NM_000497.3 422 Cgc/Ggc 0 Missense_Mutation G 38 CYP11B1 SNP 8 G C 143953509 143953509 Broad KDM4C 23081 broad.mit.edu GRCh37 9 7169927 7169927 + intron_variant Intron SNP G G C novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000381309.3:c.2994+37G>C *998* ENST00000381309 NM_015061.3 0 Missense_Mutation G 36 KDM4C SNP 9 G C 7159927 7159927 Broad ARHGEF9 23229 broad.mit.edu GRCh37 X 62898374 62898374 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown x x x ENST00000253401.6:c.640G>A p.Asp214Asn p.D214N ENST00000253401 NM_015185.2 214 Gac/Aac 0 Missense_Mutation C 30 ARHGEF9 SNP 23 C T 62815099 62815099 Broad MED15 51586 broad.mit.edu GRCh37 22 20920813 20920814 + inframe_insertion In_Frame_Ins INS - - CAG novel Unknown TCGA-59-2355-01 TCGA-59-2355-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000263205.7:c.784_786dupCAG p.Gln262dup p.Q262dup ENST00000263205 NM_001003891.1 250 -/CAG 0 In_Frame_Ins - 2 MED15 INS 22 CAG - 19250814 19250813 Broad DMRT2 10655 genome.wustl.edu GRCh37 9 1056470 1056470 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382251.3:c.883C>G p.Pro295Ala p.P295A ENST00000382251 295 Cca/Gca 0 Missense_Mutation C 18 DMRT2 SNP 9 C G 1046470 1046470 WashU CACNA1C 775 genome.wustl.edu GRCh37 12 2788812 2788812 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000347598.4:c.5438C>A p.Ala1813Asp p.A1813D ENST00000347598 NM_199460.2 1813 gCc/gAc 0 Missense_Mutation C 26 CACNA1C SNP 12 C A 2659073 2659073 WashU CNTN4 152330 genome.wustl.edu GRCh37 3 3030054 3030054 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397461.1:c.1384C>T p.Leu462Phe p.L462F ENST00000397461 NM_001206955.1 462 Ctc/Ttc 0 Missense_Mutation C 24 CNTN4 SNP 3 C T 3005054 3005054 WashU OR51A4 401666 genome.wustl.edu GRCh37 11 4967789 4967789 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380373.2:c.542G>A p.Cys181Tyr p.C181Y ENST00000380373 NM_001005329.1 181 tGt/tAt 0 Missense_Mutation C 17 OR51A4 SNP 11 C T 4924365 4924365 WashU CUBN 8029 genome.wustl.edu GRCh37 10 17085895 17085895 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377833.4:c.3760A>T p.Ser1254Cys p.S1254C ENST00000377833 NM_001081.3 1254 Agc/Tgc 0 Missense_Mutation T 55 CUBN SNP 10 T A 17125901 17125901 WashU IFNB1 3456 genome.wustl.edu GRCh37 9 21077536 21077536 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380232.2:c.333T>A p.Asn111Lys p.N111K ENST00000380232 NM_002176.2 111 aaT/aaA 0 Missense_Mutation A 8 IFNB1 SNP 9 A T 21067536 21067536 WashU CMAS 55907 genome.wustl.edu GRCh37 12 22214388 22214388 + splice_donor_variant Splice_Site SNP T T G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000229329.2:c.960+2T>G p.X320_splice ENST00000229329 NM_018686.4 0 Splice_Site_SNP T 57 CMAS SNP 12 T G 22105655 22105655 WashU ARHGAP21 57584 genome.wustl.edu GRCh37 10 24886885 24886885 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396432.2:c.3186C>G p.Asn1062Lys p.N1062K ENST00000396432 NM_020824.3 1062 aaC/aaG 0 Missense_Mutation G 48 ARHGAP21 SNP 10 G C 24926891 24926891 WashU GPR158 57512 genome.wustl.edu GRCh37 10 25887606 25887606 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376351.3:c.3051T>C p.Gly1017= p.G1017= ENST00000376351 NM_020752.2 1017 ggT/ggC 0 Silent T 58 GPR158 SNP 10 T C 25927612 25927612 WashU AZI2 64343 genome.wustl.edu GRCh37 3 28380107 28380107 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000479665.1:c.217-1G>C p.X73_splice ENST00000479665 NM_022461.4 0 Splice_Site_SNP C 28 AZI2 SNP 3 C G 28355111 28355111 WashU SPEF2 79925 genome.wustl.edu GRCh37 5 35774001 35774001 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000356031.3:c.3956C>T p.Ser1319Leu p.S1319L ENST00000356031 NM_024867.3 1319 tCa/tTa 0 Missense_Mutation C 29 SPEF2 SNP 5 C T 35809758 35809758 WashU SRPK1 6732 genome.wustl.edu GRCh37 6 35837268 35837268 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373825.2:c.1402G>A p.Asp468Asn p.D468N ENST00000373825 468 Gac/Aac 0 Missense_Mutation C 30 SRPK1 SNP 6 C T 35945246 35945246 WashU SLC26A8 116369 genome.wustl.edu GRCh37 6 35911700 35911700 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000490799.1:c.2890G>A p.Gly964Ser p.G964S ENST00000490799 NM_052961.3 964 Ggc/Agc 0 Missense_Mutation C 22 SLC26A8 SNP 6 C T 36019678 36019678 WashU ZFAND3 60685 genome.wustl.edu GRCh37 6 38084454 38084454 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000287218.4:c.468G>T p.Arg156= p.R156= ENST00000287218 NM_021943.2 156 cgG/cgT 0 Silent G 44 ZFAND3 SNP 6 G T 38192432 38192432 WashU SLC4A1 6521 genome.wustl.edu GRCh37 17 42335417 42335418 + missense_variant Missense_Mutation DNP CC CC AG novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 CC CC CC AG CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262418.6:c.1218_1219delinsCT p.Ala407Ser p.A407S ENST00000262418 NM_000342.3 406 ctGGct/ctCTct 0 Missense CC 26 SLC4A1 DNP 17 CC AG 39690944 39690943 WashU ADAM2 2515 genome.wustl.edu GRCh37 8 39602414 39602414 + splice_acceptor_variant Splice_Site SNP T T A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000265708.4:c.2175-2A>T p.X725_splice ENST00000265708 NM_001464.4 0 Splice_Site_SNP T 55 ADAM2 SNP 8 T A 39721571 39721571 WashU NPHS1 4868 genome.wustl.edu GRCh37 19 36335134 36335134 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000378910.5:c.2083C>T p.Arg695Trp p.R695W ENST00000378910 NM_004646.3 695 Cgg/Tgg 0 Missense_Mutation G 39 NPHS1 SNP 19 G A 41026974 41026974 WashU UBR2 23304 genome.wustl.edu GRCh37 6 42573531 42573531 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000372899.1:c.735T>C p.Thr245= p.T245= ENST00000372899 NM_015255.2 245 acT/acC 0 Silent T 54 UBR2 SNP 6 T C 42681509 42681509 WashU B2M 567 genome.wustl.edu GRCh37 15 45003745 45003745 + start_lost Translation_Start_Site SNP A A G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000558401.1:c.1A>G p.Met1? p.M1? ENST00000558401 NM_004048.2 1 Atg/Gtg 0 Missense_Mutation A 12 B2M SNP 15 A G 42791037 42791037 WashU SLC28A2 9153 genome.wustl.edu GRCh37 15 45559871 45559871 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000347644.3:c.1076C>T p.Ala359Val p.A359V ENST00000347644 NM_004212.3 359 gCa/gTa 0 Missense_Mutation C 25 SLC28A2 SNP 15 C T 43347163 43347163 WashU PHF21B 112885 genome.wustl.edu GRCh37 22 45291957 45291957 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000313237.5:c.838G>A p.Ala280Thr p.A280T ENST00000313237 NM_138415.4 280 Gcc/Acc 0 Missense_Mutation C 27 PHF21B SNP 22 C T 43670621 43670621 WashU LTBP4 8425 genome.wustl.edu GRCh37 19 41115542 41115542 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308370.7:c.1734C>G p.Leu578= p.L578= ENST00000308370 NM_001042544.1 578 ctC/ctG 0 Silent C 29 LTBP4 SNP 19 C G 45807382 45807382 WashU NPY4R genome.wustl.edu GRCh37 10 47087160 47087160 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000374312.1:c.377C>T p.Thr126Met p.T126M ENST00000374312 NM_005972.5 126 aCg/aTg 0 Missense_Mutation C 19 PPYR1 SNP 10 C T 46507166 46507166 WashU DDX23 9416 genome.wustl.edu GRCh37 12 49227241 49227241 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000308025.3:c.1622G>T p.Ser541Ile p.S541I ENST00000308025 NM_004818.2 541 aGc/aTc 0 Missense_Mutation C 28 DDX23 SNP 12 C A 47513508 47513508 WashU CD2AP 23607 genome.wustl.edu GRCh37 6 47573993 47573993 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359314.5:c.1510C>T p.Arg504Cys p.R504C ENST00000359314 NM_012120.2 504 Cgt/Tgt 0 Missense_Mutation C 23 CD2AP SNP 6 C T 47681952 47681952 WashU PKD1L1 168507 genome.wustl.edu GRCh37 7 47876559 47876559 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000289672.2:c.5903C>G p.Ala1968Gly p.A1968G ENST00000289672 NM_138295.3 1968 gCg/gGg 0 Missense_Mutation G 38 PKD1L1 SNP 7 G C 47843084 47843084 WashU RB1 5925 genome.wustl.edu GRCh37 13 49039405 49039421 + frameshift_variant Frame_Shift_Del DEL TACGGATTCCTGGAGGG TACGGATTCCTGGAGGG - novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000267163.4:c.2390_2406delTACGGATTCCTGGAGGG p.Leu797Ter p.L797* ENST00000267163 NM_000321.2 797 tTACGGATTCCTGGAGGG/t 0 Indel TACGGATTCCTGGAGGG 61 RB1 Indel 13 TACGGATTCCTGGAGGG - 47937422 47937406 WashU TTLL8 164714 genome.wustl.edu GRCh37 22 50479675 50479675 + intron_variant Intron SNP T T C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000433387.1:c.938+375A>G *313* ENST00000433387 0 Missense_Mutation T 51 TTLL8 SNP 22 T C 48821802 48821802 WashU MOV10L1 54456 genome.wustl.edu GRCh37 22 50563959 50563959 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262794.5:c.1708G>T p.Val570Phe p.V570F ENST00000262794 NM_018995.2 570 Gtc/Ttc 0 Missense_Mutation G 44 MOV10L1 SNP 22 G T 48906086 48906086 WashU BSN 8927 genome.wustl.edu GRCh37 3 49695017 49695017 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296452.4:c.8028G>A p.Thr2676= p.T2676= ENST00000296452 NM_003458.3 2676 acG/acA 0 Silent G 39 BSN SNP 3 G A 49670021 49670021 WashU OPRK1 4986 genome.wustl.edu GRCh37 8 54141967 54141967 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265572.3:c.1033T>C p.Cys345Arg p.C345R ENST00000265572 NM_000912.3 345 Tgc/Cgc 0 Missense_Mutation A 7 OPRK1 SNP 8 A G 54304520 54304520 WashU ZBP1 81030 genome.wustl.edu GRCh37 20 56190060 56190060 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000371173.3:c.385G>A p.Ala129Thr p.A129T ENST00000371173 NM_001160417.1 129 Gcc/Acc 0 Missense_Mutation C 27 ZBP1 SNP 20 C T 55623466 55623466 WashU OS9 10956 genome.wustl.edu GRCh37 12 58111997 58111998 + stop_gained Nonsense_Mutation DNP GA GA TT novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 GA GA GA TT GA GA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315970.7:c.1203_1204delinsTT p.Glu401_Lys402delinsAspTer p.E401_K402delinsD* ENST00000315970 NM_006812.3 401 gaGAag/gaTTag 0 Missense GA 33 OS9 DNP 12 GA TT 56398265 56398264 WashU AASDH 132949 genome.wustl.edu GRCh37 4 57204629 57204629 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000205214.6:c.3236T>C p.Ile1079Thr p.I1079T ENST00000205214 NM_181806.2 1079 aTt/aCt 0 Missense_Mutation A 4 AASDH SNP 4 A G 56899386 56899386 WashU ZNF577 84765 genome.wustl.edu GRCh37 19 52376611 52376611 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000301399.5:c.632A>G p.Glu211Gly p.E211G ENST00000301399 NM_032679.2 211 gAg/gGg 0 Missense_Mutation T 54 ZNF577 SNP 19 T C 57068423 57068423 WashU PRPF31 26121 genome.wustl.edu GRCh37 19 54628017 54628017 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000321030.4:c.837C>T p.Ile279= p.I279= ENST00000321030 NM_015629.3 279 atC/atT 0 Silent C 31 PRPF31 SNP 19 C T 59319829 59319829 WashU hsa-mir-7162 genome.wustl.edu GRCh37 15 62539521 62539521 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000429274.2:n.352G>A *118* ENST00000429274 0 Missense_Mutation C 23 ENSG00000166104 SNP 15 C T 60326813 60326813 WashU MDM1 56890 genome.wustl.edu GRCh37 12 68720731 68720731 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303145.7:c.204T>G p.Ser68= p.S68= ENST00000303145 NM_017440.4 68 tcT/tcG 0 Silent A 11 MDM1 SNP 12 A C 67006998 67006998 WashU SLC4A4 8671 genome.wustl.edu GRCh37 4 72316985 72316985 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000425175.1:c.1289A>T p.His430Leu p.H430L ENST00000425175 NM_001134742.1 430 cAt/cTt 0 Missense_Mutation A 8 SLC4A4 SNP 4 A T 72535849 72535849 WashU ZNF711 7552 genome.wustl.edu GRCh37 X 84526379 84526379 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373165.3:c.1831T>C p.Ser611Pro p.S611P ENST00000373165 NM_021998.4 611 Tct/Cct 0 Missense_Mutation T 50 ZNF711 SNP 23 T C 84413035 84413035 WashU AGTPBP1 23287 genome.wustl.edu GRCh37 9 88200414 88200414 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376083.3:c.3009A>T p.Ala1003= p.A1003= ENST00000376083 NM_015239.2 1003 gcA/gcT 0 Silent T 63 AGTPBP1 SNP 9 T A 87390234 87390234 WashU EML5 161436 genome.wustl.edu GRCh37 14 89205266 89205266 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000554922.1:c.804A>G p.Pro268= p.P268= ENST00000554922 NM_183387.2 268 ccA/ccG 0 Silent T 63 EML5 SNP 14 T C 88275019 88275019 WashU FAT3 120114 genome.wustl.edu GRCh37 11 92532882 92532882 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298047.6:c.6703T>G p.Phe2235Val p.F2235V ENST00000298047 2235 Ttt/Gtt 0 Missense_Mutation T 56 FAT3 SNP 11 T G 92172530 92172530 WashU BRDT 676 genome.wustl.edu GRCh37 1 92441891 92441891 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000362005.3:c.514T>G p.Phe172Val p.F172V ENST00000362005 NM_001242805.1 172 Ttt/Gtt 0 Missense_Mutation T 52 BRDT SNP 1 T G 92214479 92214479 WashU MMS22L 253714 genome.wustl.edu GRCh37 6 97620943 97620943 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000275053.4:c.2835G>C p.Met945Ile p.M945I ENST00000275053 NM_198468.2 945 atG/atC 0 Missense_Mutation C 29 C6orf167 SNP 6 C G 97727664 97727664 WashU ZSCAN21 7589 genome.wustl.edu GRCh37 7 99661781 99661781 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000292450.4:c.963C>G p.Thr321= p.T321= ENST00000292450 NM_145914.2 321 acC/acG 0 Silent C 22 ZSCAN21 SNP 7 C G 99499717 99499717 WashU CENPE 1062 genome.wustl.edu GRCh37 4 104030037 104030037 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265148.3:c.7934T>C p.Phe2645Ser p.F2645S ENST00000265148 NM_001813.2 2645 tTt/tCt 0 Missense_Mutation A 1 CENPE SNP 4 A G 104249486 104249486 WashU CXorf57 55086 genome.wustl.edu GRCh37 X 105868476 105868476 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372548.4:c.943C>T p.Pro315Ser p.P315S ENST00000372548 NM_018015.5 315 Ccc/Tcc 0 Missense_Mutation C 22 CXorf57 SNP 23 C T 105755132 105755132 WashU PIK3CG 5294 genome.wustl.edu GRCh37 7 106509141 106509141 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359195.3:c.1135C>A p.Leu379Ile p.L379I ENST00000359195 NM_002649.2 379 Ctc/Atc 0 Missense_Mutation C 24 PIK3CG SNP 7 C A 106296377 106296377 WashU ST6GAL2 84620 genome.wustl.edu GRCh37 2 107449085 107449085 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409382.3:c.1079C>T p.Ser360Leu p.S360L ENST00000409382 NM_001142351.1 360 tCa/tTa 0 Missense_Mutation G 45 ST6GAL2 SNP 2 G A 106815517 106815517 WashU DDX18 8886 genome.wustl.edu GRCh37 2 118586875 118586875 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263239.2:c.1703T>C p.Leu568Ser p.L568S ENST00000263239 NM_006773.3 568 tTg/tCg 0 Missense_Mutation T 63 DDX18 SNP 2 T C 118303345 118303345 WashU ARHGAP31 57514 genome.wustl.edu GRCh37 3 119133103 119133103 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264245.4:c.2327A>C p.Asn776Thr p.N776T ENST00000264245 NM_020754.2 776 aAt/aCt 0 Missense_Mutation A 4 ARHGAP31 SNP 3 A C 120615793 120615793 WashU MAPKAP1 79109 genome.wustl.edu GRCh37 9 128230361 128230361 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265960.3:c.1235A>G p.Asp412Gly p.D412G ENST00000265960 NM_001006617.1 412 gAc/gGc 0 Missense_Mutation T 58 MAPKAP1 SNP 9 T C 127270182 127270182 WashU MAP3K2 10746 genome.wustl.edu GRCh37 2 128072395 128072395 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409947.1:c.1391C>G p.Thr464Ser p.T464S ENST00000409947 464 aCc/aGc 0 Missense_Mutation G 44 MAP3K2 SNP 2 G C 127788865 127788865 WashU LAMA2 3908 genome.wustl.edu GRCh37 6 129712776 129712776 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000421865.2:c.5212G>A p.Glu1738Lys p.E1738K ENST00000421865 NM_001079823.1 1738 Gaa/Aaa 0 Missense_Mutation G 41 LAMA2 SNP 6 G A 129754469 129754469 WashU SLC37A3 84255 genome.wustl.edu GRCh37 7 140082260 140082260 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326232.9:c.67G>A p.Val23Met p.V23M ENST00000326232 NM_207113.1 23 Gtg/Atg 0 Missense_Mutation C 20 SLC37A3 SNP 7 C T 139728729 139728729 WashU PCDHB18 54660 genome.wustl.edu GRCh37 5 140615021 140615021 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000526308.1:n.1084G>A *362* ENST00000526308 0 Missense_Mutation G 37 PCDHB18 SNP 5 A A 140595205 140595205 WashU MGST2 4258 genome.wustl.edu GRCh37 4 140625270 140625270 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265498.1:c.412A>T p.Asn138Tyr p.N138Y ENST00000265498 NM_002413.4 138 Aat/Tat 0 Missense_Mutation A 5 MGST2 SNP 4 A T 140844720 140844720 WashU INPP4B 8821 genome.wustl.edu GRCh37 4 143043396 143043396 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262992.4:c.2020G>T p.Asp674Tyr p.D674Y ENST00000262992 NM_001101669.1 674 Gat/Tat 0 Missense_Mutation C 31 INPP4B SNP 4 C A 143262846 143262846 WashU OR2F1 26211 genome.wustl.edu GRCh37 7 143657510 143657510 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000392899.1:c.447G>T p.Trp149Cys p.W149C ENST00000392899 NM_012369.2 149 tgG/tgT 0 Missense_Mutation G 43 OR2F1 SNP 7 G T 143288443 143288443 WashU CNTNAP2 26047 genome.wustl.edu GRCh37 7 146829424 146829424 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361727.3:c.1171A>C p.Asn391His p.N391H ENST00000361727 NM_014141.5 391 Aac/Cac 0 Missense_Mutation A 13 CNTNAP2 SNP 7 A C 146460357 146460357 WashU HIST2H3PS2 440686 genome.wustl.edu GRCh37 1 149400518 149400518 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392948.2:c.25C>T p.Arg9Cys p.R9C ENST00000392948 9 Cgc/Tgc 0 Missense_Mutation G 39 HIST2H3PS2 SNP 1 G A 147667142 147667142 WashU MBD5 55777 genome.wustl.edu GRCh37 2 149247806 149247806 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000407073.1:c.3906A>C p.Gly1302= p.G1302= ENST00000407073 NM_018328.4 1302 ggA/ggC 0 Silent A 11 MBD5 SNP 2 A C 148964276 148964276 WashU ZNF687 57592 genome.wustl.edu GRCh37 1 151259272 151259272 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324048.5:c.505G>A p.Glu169Lys p.E169K ENST00000324048 169 Gag/Aag 0 Missense_Mutation G 45 ZNF687 SNP 1 G A 149525896 149525896 WashU HPS3 84343 genome.wustl.edu GRCh37 3 148885694 148885694 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296051.2:c.2811A>C p.Lys937Asn p.K937N ENST00000296051 NM_032383.3 937 aaA/aaC 0 Missense_Mutation A 1 HPS3 SNP 3 A C 150368384 150368384 WashU CP 1356 genome.wustl.edu GRCh37 3 148930323 148930323 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264613.6:c.309T>C p.Asp103= p.D103= ENST00000264613 NM_000096.3 103 gaT/gaC 0 Silent A 16 CP SNP 3 A G 150413013 150413013 WashU CSAG4 100130935 genome.wustl.edu GRCh37 X 151896709 151896709 + splice_region_variant,non_coding_transcript_exon_variant Splice_Region SNP G G T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361201.4:n.232C>A p.X78_splice ENST00000361201 0 Silent G 35 LOC100130935 SNP 23 G T 151647365 151647365 WashU FLAD1 80308 genome.wustl.edu GRCh37 1 154960800 154960800 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000292180.3:c.592G>C p.Glu198Gln p.E198Q ENST00000292180 NM_025207.4 198 Gag/Cag 0 Missense_Mutation G 45 FLAD1 SNP 1 G C 153227424 153227424 WashU FCRL3 115352 genome.wustl.edu GRCh37 1 157667154 157667154 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368184.3:c.620T>A p.Met207Lys p.M207K ENST00000368184 NM_052939.3 207 aTg/aAg 0 Missense_Mutation A 8 FCRL3 SNP 1 A T 155933778 155933778 WashU PIGM 93183 genome.wustl.edu GRCh37 1 160000753 160000753 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368090.2:c.777T>C p.Phe259= p.F259= ENST00000368090 NM_145167.2 259 ttT/ttC 0 Silent A 1 PIGM SNP 1 A G 158267377 158267377 WashU SCN2A 6326 genome.wustl.edu GRCh37 2 166170174 166170174 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357398.3:c.1079C>T p.Pro360Leu p.P360L ENST00000357398 360 cCc/cTc 0 Missense_Mutation C 22 SCN2A SNP 2 C T 165878420 165878420 WashU SCN1A 6323 genome.wustl.edu GRCh37 2 166852529 166852529 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303395.4:c.4575A>T p.Arg1525= p.R1525= ENST00000303395 1525 cgA/cgT 0 Silent T 58 SCN1A SNP 2 T A 166560775 166560775 WashU CDHR2 54825 genome.wustl.edu GRCh37 5 175992380 175992380 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000510636.1:c.27C>T p.Phe9= p.F9= ENST00000510636 NM_001171976.1 9 ttC/ttT 0 Silent C 30 CDHR2 SNP 5 C T 175924986 175924986 WashU HK3 3101 genome.wustl.edu GRCh37 5 176323126 176323126 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000292432.5:c.35G>A p.Gly12Glu p.G12E ENST00000292432 NM_002115.2 12 gGg/gAg 0 Missense_Mutation C 22 HK3 SNP 5 C T 176255732 176255732 WashU TTN 7273 genome.wustl.edu GRCh37 2 179616505 179616505 + intron_variant Intron SNP T T A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.11311+1346A>T *3771* ENST00000589042 NM_001267550.1 0 Missense_Mutation T 52 TTN SNP 2 T A 179324750 179324750 WashU LAMC1 3915 genome.wustl.edu GRCh37 1 183079748 183079748 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258341.4:c.980C>G p.Pro327Arg p.P327R ENST00000258341 NM_002293.3 327 cCg/cGg 0 Missense_Mutation C 23 LAMC1 SNP 1 C G 181346371 181346371 WashU NCF2 4688 genome.wustl.edu GRCh37 1 183543622 183543622 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367535.3:c.501G>C p.Trp167Cys p.W167C ENST00000367535 NM_000433.3 167 tgG/tgC 0 Missense_Mutation C 22 NCF2 SNP 1 C G 181810245 181810245 WashU LRCH3 84859 genome.wustl.edu GRCh37 3 197559135 197559135 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334859.4:c.1049G>C p.Arg350Thr p.R350T ENST00000334859 NM_032773.2 350 aGa/aCa 0 Missense_Mutation G 33 LRCH3 SNP 3 G C 199043532 199043532 WashU LMOD1 25802 genome.wustl.edu GRCh37 1 201869210 201869210 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367288.4:c.931G>A p.Glu311Lys p.E311K ENST00000367288 NM_012134.2 311 Gag/Aag 0 Missense_Mutation C 30 LMOD1 SNP 1 C T 200135833 200135833 WashU ARL8A 127829 genome.wustl.edu GRCh37 1 202104865 202104865 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272217.2:c.342A>G p.Leu114= p.L114= ENST00000272217 NM_001256129.1 114 ctA/ctG 0 Silent T 57 ARL8A SNP 1 T C 200371488 200371488 WashU CENPF 1063 genome.wustl.edu GRCh37 1 214815579 214815579 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366955.3:c.3898C>T p.Leu1300= p.L1300= ENST00000366955 NM_016343.3 1300 Ctg/Ttg 0 Silent C 28 CENPF SNP 1 C T 212882202 212882202 WashU RHBDD1 84236 genome.wustl.edu GRCh37 2 227778996 227778996 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392062.2:c.785A>G p.Asp262Gly p.D262G ENST00000392062 NM_001167608.1 262 gAc/gGc 0 Missense_Mutation A 10 RHBDD1 SNP 2 A G 227487240 227487240 WashU SP110 3431 genome.wustl.edu GRCh37 2 231036820 231036820 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258381.6:c.1777A>T p.Lys593Ter p.K593* ENST00000258381 NM_080424.2 593 Aag/Tag 0 Nonsense_Mutation T 61 SP110 SNP 2 T A 230745064 230745064 WashU KIF26B 55083 genome.wustl.edu GRCh37 1 245862232 245862232 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000407071.2:c.6071G>A p.Arg2024His p.R2024H ENST00000407071 NM_018012.3 2024 cGc/cAc 0 Missense_Mutation G 38 KIF26B SNP 1 G A 243928855 243928855 WashU TP53 7157 genome.wustl.edu GRCh37 17 7576858 7576858 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G - G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.988delC p.Leu330PhefsTer15 p.L330Ffs*15 ENST00000269305 NM_001126112.2 330 Ctt/tt 0 Frame_Shift_Del G 35 TP53 DEL 17 G - 7517583 7517583 WashU SZRD1 26099 genome.wustl.edu GRCh37 1 16719768 16719769 + frameshift_variant Frame_Shift_Ins INS - - ATTGT novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000401088.4:c.147_148insATTGT p.Asp50IlefsTer41 p.D50Ifs*41 ENST00000401088 NM_001114600.2 49 -/ATTGT 0 Frame_Shift_Ins - 19 C1orf144 INS 1 - ATTGT 16592356 16592355 WashU G2E3 55632 genome.wustl.edu GRCh37 14 31058619 31058623 + frameshift_variant Frame_Shift_Del DEL AAAGA AAAGA - novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 AAAGA AAAGA AAAGA - AAAGA AAAGA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000206595.6:c.167_171del p.Lys56ArgfsTer18 p.K56Rfs*18 ENST00000206595 NM_017769.3 56 AAAGAa/a 0 Frame_Shift_Del AAAGA 5 G2E3 DEL 14 AAAGA - 30128374 30128370 WashU CYP2B6 1555 genome.wustl.edu GRCh37 19 41518370 41518370 + stop_gained Nonsense_Mutation SNP C C T rs34097093 Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000324071.4:c.1132C>T p.Arg378Ter p.R378* ENST00000324071 NM_000767.4 378 Cga/Tga 0 Nonsense_Mutation C 23 CYP2B6 SNP 19 C T 46210210 46210210 WashU COL13A1 1305 genome.wustl.edu GRCh37 10 71678073 71678073 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398978.3:c.1029G>A p.Lys343= p.K343= ENST00000398978 NM_001130103.1 343 aaG/aaA 0 Silent G 35 COL13A1 SNP 10 G A 71348079 71348079 WashU IGHM 28216 genome.wustl.edu GRCh37 14 106320716 106320716 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390559.2:c.1094G>T p.Trp365Leu p.W365L ENST00000390559 365 tGg/tTg 0 Nonsense_Mutation C 21 IGHM SNP 14 C A 105391761 105391761 WashU WDR24 84219 genome.wustl.edu GRCh37 16 739275 739275 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000293883.4:c.366G>A p.Thr122= p.T122= ENST00000293883 NM_032259.2 122 acG/acA 0 Silent C 23 WDR24 SNP 16 C T 679276 679276 WashU KLHL26 55295 genome.wustl.edu GRCh37 19 18779040 18779040 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300976.4:c.833G>A p.Arg278His p.R278H ENST00000300976 NM_018316.1 278 cGc/cAc 0 Missense_Mutation G 38 KLHL26 SNP 19 G A 18640040 18640040 WashU PPM1F 9647 genome.wustl.edu GRCh37 22 22287785 22287785 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263212.5:c.725T>C p.Phe242Ser p.F242S ENST00000263212 NM_014634.3 242 tTt/tCt 0 Missense_Mutation A 1 PPM1F SNP 22 A G 20617785 20617785 WashU SCN10A 6336 genome.wustl.edu GRCh37 3 38793973 38793973 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000449082.2:c.1492C>T p.Arg498Trp p.R498W ENST00000449082 NM_006514.2 498 Cgg/Tgg 0 Missense_Mutation G 39 SCN10A SNP 3 G A 38768977 38768977 WashU FAM90A10P 441328 genome.wustl.edu GRCh37 8 7627264 7627264 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-13-1509-01 TCGA-13-1509-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000530206.1:n.272C>A *91* ENST00000530206 0 Missense_Mutation C 26 FAM90A10 SNP 8 A A 7664674 7664674 WashU HLA-A 3105 genome.wustl.edu GRCh37 6 29910582 29910597 + frameshift_variant Frame_Shift_Del DEL GCGGGGAGCCCCGCTT GCGGGGAGCCCCGCTT - Unknown TCGA-13-1509-01 TCGA-13-1509-10 GCGGGGAGCCCCGCTT GCGGGGAGCCCCGCTT GCGGGGAGCCCCGCTT - GCGGGGAGCCCCGCTT GCGGGGAGCCCCGCTT Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000376809.5:c.122_137delGCGGGGAGCCCCGCTT p.Arg41ProfsTer31 p.R41Pfs*31 ENST00000376809 NM_002116.7 41 cGCGGGGAGCCCCGCTTc/cc 0 Frame_Shift_Del GCGGGGAGCCCCGCTT 38 HLA-A DEL 6 GCGGGGAGCCCCGCTT - 30018576 30018561 WashU ACOT12 134526 hgsc.bcm.edu GRCh37 5 80641811 80641811 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000307624.3:c.666G>A p.Trp222Ter p.W222* ENST00000307624 NM_130767.2 222 tgG/tgA 0 Nonsense_Mutation C 22 ACOT12 SNP 5 C T 80677567 80677567 Baylor CCR9 10803 hgsc.bcm.edu GRCh37 3 45943063 45943063 + synonymous_variant Silent SNP C C T novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357632.2:c.783C>T p.Thr261= p.T261= ENST00000357632 NM_031200.2 261 acC/acT 0 Silent C 23 CCR9 SNP 3 C T 45918067 45918067 Baylor DLX2 1746 hgsc.bcm.edu GRCh37 2 172966865 172966865 + splice_donor_variant Splice_Site SNP A A G novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000234198.4:c.400+2T>C p.X134_splice ENST00000234198 NM_004405.3 0 Splice_Site_SNP A 14 DLX2 SNP 2 A G 172675111 172675111 Baylor EFEMP1 2202 hgsc.bcm.edu GRCh37 2 56144830 56144831 + frameshift_variant Frame_Shift_Del DEL AG AG - novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 AG AG . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000394555.2:c.486_487del p.Tyr163ArgfsTer4 p.Y163Rfs*4 ENST00000394555 NM_001039348.2 162 ggCTac/ggac 0 Frame_Shift_Del AG 15 EFEMP1 DEL 2 AG - 55998335 55998334 Baylor FIG4 9896 hgsc.bcm.edu GRCh37 6 110087933 110087933 + missense_variant,splice_region_variant Missense_Mutation SNP T T G novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000230124.3:c.1585T>G p.Leu529Val p.L529V ENST00000230124 NM_014845.5 529 Tta/Gta 0 Missense_Mutation T 60 FIG4 SNP 6 T G 110194626 110194626 Baylor IL1RL2 8808 hgsc.bcm.edu GRCh37 2 102818085 102818085 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264257.2:c.559G>A p.Ala187Thr p.A187T ENST00000264257 NM_003854.2 187 Gca/Aca 0 Missense_Mutation G 42 IL1RL2 SNP 2 G A 102184517 102184517 Baylor LAMB2 3913 hgsc.bcm.edu GRCh37 3 49169731 49169731 + synonymous_variant Silent SNP C C A novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000418109.1:c.357G>T p.Arg119= p.R119= ENST00000418109 NM_002292.3 119 cgG/cgT 0 Silent C 26 LAMB2 SNP 3 C A 49144735 49144735 Baylor MACF1 23499 hgsc.bcm.edu GRCh37 1 39853297 39853297 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000545844.1:c.8597A>G p.Glu2866Gly p.E2866G ENST00000545844 2866 gAg/gGg 0 Missense_Mutation A 11 MACF1 SNP 1 A G 39625884 39625884 Baylor MANBA 4126 hgsc.bcm.edu GRCh37 4 103645120 103645120 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000226578.4:c.277T>C p.Trp93Arg p.W93R ENST00000226578 NM_005908.3 93 Tgg/Cgg 0 Missense_Mutation A 8 MANBA SNP 4 A G 103864166 103864166 Baylor NRCAM 4897 hgsc.bcm.edu GRCh37 7 107824879 107824879 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379028.3:c.2215T>C p.Tyr739His p.Y739H ENST00000379028 739 Tat/Cat 0 Missense_Mutation A 14 NRCAM SNP 7 A G 107612115 107612115 Baylor NSMAF 8439 hgsc.bcm.edu GRCh37 8 59508179 59508179 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000427130.2:c.1925C>T p.Thr642Ile p.T642I ENST00000427130 NM_001144772.1 642 aCa/aTa 0 Missense_Mutation G 48 NSMAF SNP 8 G A 59670733 59670733 Baylor PASK 23178 hgsc.bcm.edu GRCh37 2 242046885 242046885 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000358649.4:c.3718C>T p.Gln1240Ter p.Q1240* ENST00000358649 1240 Cag/Tag 0 Nonsense_Mutation G 46 PASK SNP 2 G A 241695558 241695558 Baylor PLEKHA8 84725 hgsc.bcm.edu GRCh37 7 30094902 30094902 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000449726.1:c.983G>T p.Ser328Ile p.S328I ENST00000449726 NM_001197027.1 328 aGt/aTt 0 Missense_Mutation G 36 PLEKHA8 SNP 7 G T 30061427 30061427 Baylor SCGN 10590 hgsc.bcm.edu GRCh37 6 25665246 25665246 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000377961.2:c.322G>A p.Val108Met p.V108M ENST00000377961 NM_006998.3 108 Gtg/Atg 0 Missense_Mutation G 40 SCGN SNP 6 G A 25773225 25773225 Baylor TACC3 10460 hgsc.bcm.edu GRCh37 4 1730307 1730308 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000313288.4:c.1185dupC p.Met396HisfsTer17 p.M396Hfs*17 ENST00000313288 NM_006342.2 393 gac/gaCc 0 Frame_Shift_Ins - 10 TACC3 INS 4 - C 1700106 1700105 Baylor TG 7038 hgsc.bcm.edu GRCh37 8 134034374 134034374 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000220616.4:c.7015G>A p.Val2339Ile p.V2339I ENST00000220616 NM_003235.4 2339 Gtc/Atc 0 Missense_Mutation G 48 TG SNP 8 G A 134103556 134103556 Baylor TMEM18 129787 hgsc.bcm.edu GRCh37 2 672847 672847 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000281017.3:c.194G>T p.Cys65Phe p.C65F ENST00000281017 NM_152834.2 65 tGt/tTt 0 Missense_Mutation C 17 TMEM18 SNP 2 C A 662847 662847 Baylor VCAN 1462 hgsc.bcm.edu GRCh37 5 82816305 82816305 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000265077.3:c.2180C>T p.Ser727Phe p.S727F ENST00000265077 NM_004385.4 727 tCt/tTt 0 Missense_Mutation C 32 VCAN SNP 5 C T 82852061 82852061 Baylor ZBTB5 9925 hgsc.bcm.edu GRCh37 9 37442044 37442044 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-36-1574-01 TCGA-36-1574-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000307750.4:c.505G>A p.Ala169Thr p.A169T ENST00000307750 NM_014872.2 169 Gcc/Acc 0 Missense_Mutation C 28 ZBTB5 SNP 9 C T 37432044 37432044 Baylor CTBS 1486 broad.mit.edu GRCh37 1 85036344 85036344 + synonymous_variant Silent SNP T T C novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000370630.5:c.237A>G p.Thr79= p.T79= ENST00000370630 NM_004388.2 79 acA/acG 0 Silent T 63 CTBS SNP 1 T C 84808932 84808932 Broad SPTBN2 6712 broad.mit.edu GRCh37 11 66466974 66466974 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000533211.1:c.3679C>T p.Arg1227Trp p.R1227W ENST00000533211 1227 Cgg/Tgg 0 Missense_Mutation G 40 SPTBN2 SNP 11 G A 66223550 66223550 Broad CLPB 81570 broad.mit.edu GRCh37 11 72145490 72145490 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000294053.3:c.29A>G p.Lys10Arg p.K10R ENST00000294053 NM_001258394.1 10 aAa/aGa 0 Missense_Mutation T 64 CLPB SNP 11 T C 71823138 71823138 Broad PUS1 80324 broad.mit.edu GRCh37 12 132414548 132414548 + synonymous_variant Silent SNP C C T novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000376649.3:c.171C>T p.Arg57= p.R57= ENST00000376649 NM_025215.5 57 cgC/cgT 0 Silent C 27 PUS1 SNP 12 C T 130980501 130980501 Broad MYO16 23026 broad.mit.edu GRCh37 13 109472689 109472690 + missense_variant Missense_Mutation DNP AT AT TA novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000356711.2:c.806_807delinsTA p.Asn269Ile p.N269I ENST00000356711 NM_015011.1 269 aAT/aTA 0 Missense_Mutation AT 4 MYO16 DNP 13 AT TA 108270691 108270690 Broad CGRRF1 10668 broad.mit.edu GRCh37 14 55004880 55004880 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000216420.7:c.778T>C p.Ser260Pro p.S260P ENST00000216420 NM_006568.2 260 Tct/Cct 0 Missense_Mutation T 54 CGRRF1 SNP 14 T C 54074630 54074630 Broad NDN 4692 broad.mit.edu GRCh37 15 23932244 23932244 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000331837.4:c.121C>T p.Pro41Ser p.P41S ENST00000331837 NM_002487.2 41 Ccg/Tcg 0 Missense_Mutation G 42 NDN SNP 15 G A 21483337 21483337 Broad VPS13C 54832 broad.mit.edu GRCh37 15 62201253 62201253 + synonymous_variant Silent SNP C C T novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000261517.5:c.8916G>A p.Glu2972= p.E2972= ENST00000261517 NM_020821.2 2972 gaG/gaA 0 Silent C 24 VPS13C SNP 15 C T 59988545 59988545 Broad PRC1 9055 broad.mit.edu GRCh37 15 91524227 91524227 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000394249.3:c.709G>C p.Glu237Gln p.E237Q ENST00000394249 NM_003981.3 237 Gag/Cag 0 Missense_Mutation C 29 PRC1 SNP 15 C G 89325231 89325231 Broad SYNM 23336 broad.mit.edu GRCh37 15 99672905 99672905 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000336292.6:c.4337C>G p.Thr1446Arg p.T1446R ENST00000336292 NM_145728.2 1446 aCg/aGg 0 Missense_Mutation C 19 SYNM SNP 15 C G 97490428 97490428 Broad GSPT1 2935 broad.mit.edu GRCh37 16 11980775 11980775 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000434724.2:c.971G>A p.Arg324Lys p.R324K ENST00000434724 NM_002094.3 324 aGg/aAg 0 Missense_Mutation C 24 GSPT1 SNP 16 C T 11888276 11888276 Broad ZNF821 55565 broad.mit.edu GRCh37 16 71894401 71894401 + synonymous_variant Silent SNP G G T novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000425432.1:c.759C>A p.Pro253= p.P253= ENST00000425432 NM_001201552.1 253 ccC/ccA 0 Silent G 47 ZNF821 SNP 16 G T 70451902 70451902 Broad TRPV3 162514 broad.mit.edu GRCh37 17 3458091 3458091 + synonymous_variant Silent SNP G G C novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000301365.4:c.54C>G p.Ala18= p.A18= ENST00000301365 18 gcC/gcG 0 Silent G 43 TRPV3 SNP 17 G C 3404841 3404841 Broad MED11 400569 broad.mit.edu GRCh37 17 4635181 4635181 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000293777.5:c.196C>A p.Gln66Lys p.Q66K ENST00000293777 NM_001001683.2 66 Cag/Aag 0 Missense_Mutation C 29 MED11 SNP 17 C A 4581930 4581930 Broad TP53 7157 broad.mit.edu GRCh37 17 7577568 7577568 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.713G>T p.Cys238Phe p.C238F ENST00000269305 NM_001126112.2 238 tGt/tTt 0 Missense_Mutation C 17 TP53 SNP 17 C A 7518293 7518293 Broad ETV4 2118 broad.mit.edu GRCh37 17 41606539 41606539 + synonymous_variant Silent SNP C C G novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000319349.5:c.1194G>C p.Ser398= p.S398= ENST00000319349 NM_001079675.2 398 tcG/tcC 0 Silent C 27 ETV4 SNP 17 C G 38962065 38962065 Broad CA4 762 broad.mit.edu GRCh37 17 58236639 58236639 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000300900.4:c.793A>G p.Ser265Gly p.S265G ENST00000300900 NM_000717.3 265 Agc/Ggc 0 Missense_Mutation A 11 CA4 SNP 17 A G 55591421 55591421 Broad TMC8 147138 broad.mit.edu GRCh37 17 76134472 76134472 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000318430.5:c.1576C>T p.Arg526Cys p.R526C ENST00000318430 NM_152468.4 526 Cgt/Tgt 0 Missense_Mutation C 23 TMC8 SNP 17 C T 73646067 73646067 Broad TMEM241 85019 broad.mit.edu GRCh37 18 20878004 20878004 + synonymous_variant Silent SNP G G T novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000383233.3:c.858C>A p.Ala286= p.A286= ENST00000383233 NM_032933.4 286 gcC/gcA 0 Silent G 35 C18orf45 SNP 18 G T 19132002 19132002 Broad CCDC178 374864 broad.mit.edu GRCh37 18 30928909 30928909 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000383096.3:c.402A>C p.Lys134Asn p.K134N ENST00000383096 134 aaA/aaC 0 Missense_Mutation T 56 C18orf34 SNP 18 T G 29182907 29182907 Broad ZNF91 7644 broad.mit.edu GRCh37 19 23545146 23545146 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000300619.7:c.635G>A p.Cys212Tyr p.C212Y ENST00000300619 NM_003430.2 212 tGt/tAt 0 Missense_Mutation C 17 ZNF91 SNP 19 C T 23336986 23336986 Broad SHKBP1 92799 broad.mit.edu GRCh37 19 41094995 41094995 + synonymous_variant Silent SNP C C T novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000291842.5:c.1500C>T p.Tyr500= p.Y500= ENST00000291842 NM_138392.3 500 taC/taT 0 Silent C 19 SHKBP1 SNP 19 C T 45786835 45786835 Broad RSPH6A 81492 broad.mit.edu GRCh37 19 46317996 46317997 + missense_variant Missense_Mutation DNP CC CC AA novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000221538.3:c.438_439delinsTT p.Leu146_Gly147delinsPheCys p.L146_G147delinsFC ENST00000221538 NM_030785.3 146 ttGGgc/ttTTgc 0 Missense_Mutation CC 22 RSPH6A DNP 19 CC AA 51009837 51009836 Broad NLRP12 91662 broad.mit.edu GRCh37 19 54312964 54312964 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000324134.6:c.1949C>G p.Ser650Cys p.S650C ENST00000324134 NM_144687.3 650 tCc/tGc 0 Missense_Mutation G 41 NLRP12 SNP 19 G C 59004776 59004776 Broad LILRA5 353514 broad.mit.edu GRCh37 19 54822927 54822927 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000301219.3:c.469A>G p.Asn157Asp p.N157D ENST00000301219 NM_021250.2 157 Aac/Gac 0 Missense_Mutation T 62 LILRA5 SNP 19 T C 59514739 59514739 Broad MAP4K3 8491 broad.mit.edu GRCh37 2 39664035 39664035 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000263881.3:c.94A>G p.Lys32Glu p.K32E ENST00000263881 NM_003618.3 32 Aag/Gag 0 Missense_Mutation T 63 MAP4K3 SNP 2 T C 39517539 39517539 Broad TTL 150465 broad.mit.edu GRCh37 2 113251755 113251755 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000233336.6:c.272G>T p.Cys91Phe p.C91F ENST00000233336 NM_153712.4 91 tGc/tTc 0 Missense_Mutation G 46 TTL SNP 2 G T 112968226 112968226 Broad SCN3A 6328 broad.mit.edu GRCh37 2 166003344 166003344 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000283254.7:c.1576T>C p.Ser526Pro p.S526P ENST00000283254 NM_001081676.1 526 Tcc/Ccc 0 Missense_Mutation A 12 SCN3A SNP 2 A G 165711590 165711590 Broad C2orf66 401027 broad.mit.edu GRCh37 2 197672278 197672278 + synonymous_variant Silent SNP G G A novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000342506.2:c.243C>T p.Phe81= p.F81= ENST00000342506 NM_213608.2 81 ttC/ttT 0 Silent G 41 C2orf66 SNP 2 G A 197380523 197380523 Broad SNED1 25992 broad.mit.edu GRCh37 2 242021731 242021731 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000310397.8:c.4073C>T p.Ser1358Phe p.S1358F ENST00000310397 NM_001080437.1 1358 tCc/tTc 0 Missense_Mutation C 30 SNED1 SNP 2 C T 241670404 241670404 Broad SLC4A11 83959 broad.mit.edu GRCh37 20 3210863 3210863 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000380059.3:c.1588G>C p.Val530Leu p.V530L ENST00000380059 NM_001174090.1 530 Gtg/Ctg 0 Missense_Mutation C 17 SLC4A11 SNP 20 C G 3158863 3158863 Broad PROKR2 128674 broad.mit.edu GRCh37 20 5282783 5282783 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000546004.1:c.1058G>A p.Arg353His p.R353H ENST00000546004 353 cGt/cAt 0 Missense_Mutation C 19 PROKR2 SNP 20 C T 5230783 5230783 Broad MYH7B 57644 broad.mit.edu GRCh37 20 33586666 33586666 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000262873.7:c.4264A>C p.Ser1422Arg p.S1422R ENST00000262873 NM_020884.3 1422 Agc/Cgc 0 Missense_Mutation A 11 MYH7B SNP 20 A C 33050327 33050327 Broad TRPM2 7226 broad.mit.edu GRCh37 21 45811185 45811185 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000397928.1:c.1471G>T p.Ala491Ser p.A491S ENST00000397928 NM_003307.3 491 Gca/Tca 0 Missense_Mutation G 46 TRPM2 SNP 21 G T 44635613 44635613 Broad ALDH1L1 10840 broad.mit.edu GRCh37 3 125872370 125872370 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000273450.3:c.805G>C p.Asp269His p.D269H ENST00000273450 NM_001270364.1 269 Gac/Cac 0 Missense_Mutation C 32 ALDH1L1 SNP 3 C G 127355060 127355060 Broad NPHP3 27031 broad.mit.edu GRCh37 3 132420346 132420346 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000337331.5:c.1556C>G p.Ala519Gly p.A519G ENST00000337331 NM_153240.4 519 gCa/gGa 0 Missense_Mutation G 46 NPHP3 SNP 3 G C 133903036 133903036 Broad ABCC5 10057 broad.mit.edu GRCh37 3 183639179 183639179 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000334444.6:c.4223T>A p.Phe1408Tyr p.F1408Y ENST00000334444 NM_005688.2 1408 tTt/tAt 0 Missense_Mutation A 1 ABCC5 SNP 3 A T 185121873 185121873 Broad FGFR3 2261 broad.mit.edu GRCh37 4 1807576 1807576 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000260795.2:c.1745G>T p.Cys582Phe p.C582F ENST00000260795 582 tGc/tTc 0 Missense_Mutation G 46 FGFR3 SNP 4 G T 1777374 1777374 Broad CCDC158 339965 broad.mit.edu GRCh37 4 77278575 77278575 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000388914.3:c.2125G>C p.Glu709Gln p.E709Q ENST00000388914 NM_001042784.1 709 Gaa/Caa 0 Missense_Mutation C 32 CCDC158 SNP 4 C G 77497599 77497599 Broad C4orf21 55345 broad.mit.edu GRCh37 4 113539115 113539115 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000505019.1:c.2083C>G p.Gln695Glu p.Q695E ENST00000505019 NM_018392.4 695 Caa/Gaa 0 Missense_Mutation G 45 C4orf21 SNP 4 G C 113758564 113758564 Broad ADCY2 108 broad.mit.edu GRCh37 5 7826918 7826918 + synonymous_variant Silent SNP C C T novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000338316.4:c.3210C>T p.Asp1070= p.D1070= ENST00000338316 NM_020546.2 1070 gaC/gaT 0 Silent C 18 ADCY2 SNP 5 C T 7879918 7879918 Broad CTNND2 1501 broad.mit.edu GRCh37 5 11236923 11236923 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000304623.8:c.1641G>C p.Trp547Cys p.W547C ENST00000304623 NM_001332.2 547 tgG/tgC 0 Missense_Mutation C 30 CTNND2 SNP 5 C G 11289923 11289923 Broad FBN2 2201 broad.mit.edu GRCh37 5 127710427 127710427 + synonymous_variant Silent SNP C C T novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000508053.1:c.1989G>A p.Gln663= p.Q663= ENST00000508053 663 caG/caA 0 Silent C 32 FBN2 SNP 5 C T 127738326 127738326 Broad CTNNA1 1495 broad.mit.edu GRCh37 5 138117614 138117614 + start_lost,splice_region_variant Translation_Start_Site SNP A A C novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000302763.7:c.1A>C p.Met1? p.M1? ENST00000302763 NM_001903.2 1 Atg/Ctg 0 Missense_Mutation A 4 CTNNA1 SNP 5 A C 138145513 138145513 Broad HIST1H2BJ 8970 broad.mit.edu GRCh37 6 27100452 27100452 + synonymous_variant Silent SNP G G A novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000607124.1:c.78C>T p.Asp26= p.D26= ENST00000607124 26 gaC/gaT 0 Silent G 40 HIST1H2BJ SNP 6 G A 27208431 27208431 Broad ABCC10 89845 broad.mit.edu GRCh37 6 43406410 43406410 + synonymous_variant Silent SNP G G A novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000372530.4:c.2004G>A p.Leu668= p.L668= ENST00000372530 NM_001198934.1 668 ctG/ctA 0 Silent G 47 ABCC10 SNP 6 G A 43514388 43514388 Broad EPDR1 54749 broad.mit.edu GRCh37 7 37960418 37960418 + 5_prime_UTR_variant 5'UTR SNP A A C novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000199448.4:c.-124A>C *42* ENST00000199448 NM_017549.4 0 Silent A 6 EPDR1 SNP 7 A C 37926943 37926943 Broad NPC1L1 29881 broad.mit.edu GRCh37 7 44553115 44553115 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000289547.4:c.4011C>G p.Ser1337Arg p.S1337R ENST00000289547 NM_013389.2 1337 agC/agG 0 Missense_Mutation G 34 NPC1L1 SNP 7 G C 44519640 44519640 Broad ELN 2006 broad.mit.edu GRCh37 7 73455561 73455561 + missense_variant Missense_Mutation SNP C C A rs41350445 Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000252034.7:c.212C>A p.Ala71Glu p.A71E ENST00000252034 NM_000501.3 71 gCg/gAg 0 Missense_Mutation C 27 ELN SNP 7 C A 73093497 73093497 Broad DGKI 9162 broad.mit.edu GRCh37 7 137271924 137271924 + synonymous_variant Silent SNP C C A novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000288490.5:c.1344G>T p.Leu448= p.L448= ENST00000288490 NM_004717.2 448 ctG/ctT 0 Silent C 25 DGKI SNP 7 C A 136922464 136922464 Broad TRPS1 7227 broad.mit.edu GRCh37 8 116631880 116631880 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000395715.3:c.445C>T p.Pro149Ser p.P149S ENST00000395715 NM_014112.2 149 Cct/Tct 0 Missense_Mutation G 43 TRPS1 SNP 8 G A 116701055 116701055 Broad BAI1 575 broad.mit.edu GRCh37 8 143569728 143569728 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000517894.1:c.2312T>C p.Leu771Pro p.L771P ENST00000517894 771 cTc/cCc 0 Missense_Mutation T 54 BAI1 SNP 8 T C 143566730 143566730 Broad USP51 158880 broad.mit.edu GRCh37 X 55514319 55514319 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000500968.3:c.1054A>G p.Arg352Gly p.R352G ENST00000500968 NM_201286.3 352 Aga/Gga 0 Missense_Mutation T 54 USP51 SNP 23 T C 55531044 55531044 Broad UTP14A 10813 broad.mit.edu GRCh37 X 129063583 129063583 + stop_lost Nonstop_Mutation SNP G G C novel Unknown TCGA-31-1959-01 TCGA-31-1959-10 Unknown Unknown Unknown x x x ENST00000394422.3:c.2315G>C p.Ter772SerextTer21 p.*772Sext*21 ENST00000394422 NM_006649.3 772 tGa/tCa 0 Nonstop_Mutation G 45 UTP14A SNP 23 G C 128891264 128891264 Broad ARHGEF9 23229 hgsc.bcm.edu GRCh37 X 62926239 62926239 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000253401.6:c.280G>T p.Gly94Trp p.G94W ENST00000253401 NM_015185.2 94 Ggg/Tgg 0 Missense_Mutation C 22 ARHGEF9 SNP 23 C A 62842964 62842964 Baylor ARMC4 55130 hgsc.bcm.edu GRCh37 10 28283956 28283956 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000305242.5:c.116A>C p.Glu39Ala p.E39A ENST00000305242 NM_018076.2 39 gAg/gCg 0 Missense_Mutation T 54 ARMC4 SNP 10 T G 28323962 28323962 Baylor B3GAT2 135152 hgsc.bcm.edu GRCh37 6 71603934 71603934 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000230053.6:c.633G>C p.Leu211= p.L211= ENST00000230053 NM_080742.2 211 ctG/ctC 0 Silent C 21 B3GAT2 SNP 6 C G 71660655 71660655 Baylor C11orf87 399947 hgsc.bcm.edu GRCh37 11 109294535 109294535 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000327419.6:c.176C>A p.Ser59Tyr p.S59Y ENST00000327419 NM_207645.3 59 tCc/tAc 0 Missense_Mutation C 30 C11orf87 SNP 11 C A 108799745 108799745 Baylor CACNA1S 779 hgsc.bcm.edu GRCh37 1 201052430 201052430 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000362061.3:c.1253del p.Asn418ThrfsTer12 p.N418Tfs*12 ENST00000362061 NM_000069.2 418 aAc/ac 0 Frame_Shift_Del T 60 CACNA1S DEL 1 T - 199319053 199319053 Baylor CORO2A 7464 hgsc.bcm.edu GRCh37 9 100897216 100897216 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000343933.5:c.340A>G p.Lys114Glu p.K114E ENST00000343933 NM_003389.3 114 Aag/Gag 0 Missense_Mutation T 63 CORO2A SNP 9 T C 99937037 99937037 Baylor DACH2 117154 hgsc.bcm.edu GRCh37 X 85950112 85950112 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373125.4:c.861A>C p.Leu287= p.L287= ENST00000373125 NM_053281.3 287 ctA/ctC 0 Silent A 15 DACH2 SNP 23 A C 85836768 85836768 Baylor DCC 1630 hgsc.bcm.edu GRCh37 18 50705485 50705485 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000442544.2:c.1572G>C p.Glu524Asp p.E524D ENST00000442544 NM_005215.3 524 gaG/gaC 0 Missense_Mutation G 36 DCC SNP 18 G C 48959483 48959483 Baylor EFEMP1 2202 hgsc.bcm.edu GRCh37 2 56098226 56098226 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000394555.2:c.1033C>T p.Arg345Trp p.R345W ENST00000394555 NM_001039348.2 345 Cgg/Tgg 0 Missense_Mutation G 39 EFEMP1 SNP 2 G A 55951730 55951730 Baylor EPHA3 2042 hgsc.bcm.edu GRCh37 3 89259417 89259417 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000336596.2:c.561T>G p.Gly187= p.G187= ENST00000336596 NM_005233.5 187 ggT/ggG 0 Silent T 59 EPHA3 SNP 3 T G 89342107 89342107 Baylor ERCC5 2073 hgsc.bcm.edu GRCh37 13 103524696 103524696 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355739.4:c.2827G>T p.Asp943Tyr p.D943Y ENST00000355739 NM_000123.3 943 Gac/Tac 0 Missense_Mutation G 45 ERCC5 SNP 13 G T 102322697 102322697 Baylor GALNT14 79623 hgsc.bcm.edu GRCh37 2 31154991 31154991 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000324589.5:c.1016T>G p.Val339Gly p.V339G ENST00000324589 NM_001253826.1 339 gTc/gGc 0 Missense_Mutation A 10 GALNT14 SNP 2 A C 31008495 31008495 Baylor GDF3 9573 hgsc.bcm.edu GRCh37 12 7848219 7848219 + frameshift_variant Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000329913.3:c.106del p.Asp36IlefsTer16 p.D36Ifs*16 ENST00000329913 NM_020634.1 36 Gat/at 0 Frame_Shift_Del C 32 GDF3 DEL 12 C - 7739486 7739486 Baylor C5orf66 100996485 hgsc.bcm.edu GRCh37 5 134679093 134679093 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000432382.3:c.375G>T p.Leu125Phe p.L125F ENST00000432382 NM_001277348.1 125 ttG/ttT 0 Silent G 47 H2AFY SNP 5 G T 134706992 134706992 Baylor HKDC1 80201 hgsc.bcm.edu GRCh37 10 70992825 70992825 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354624.5:c.431A>C p.Lys144Thr p.K144T ENST00000354624 NM_025130.3 144 aAg/aCg 0 Missense_Mutation A 3 HKDC1 SNP 10 A C 70662831 70662831 Baylor HUWE1 10075 hgsc.bcm.edu GRCh37 X 53602136 53602136 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000342160.3:c.6076T>C p.Ser2026Pro p.S2026P ENST00000342160 2026 Tct/Cct 0 Missense_Mutation A 12 HUWE1 SNP 23 A G 53618861 53618861 Baylor IL7R 3575 hgsc.bcm.edu GRCh37 5 35876310 35876310 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000303115.3:c.1102A>T p.Thr368Ser p.T368S ENST00000303115 NM_002185.3 368 Aca/Tca 0 Missense_Mutation A 6 IL7R SNP 5 A T 35912067 35912067 Baylor KCNIP3 30818 hgsc.bcm.edu GRCh37 2 96040047 96040047 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295225.5:c.185del p.Ser62ThrfsTer130 p.S62Tfs*130 ENST00000295225 NM_013434.4 62 aGc/ac 0 Frame_Shift_Del G 34 KCNIP3 DEL 2 G - 95403774 95403774 Baylor KCNIP3 30818 hgsc.bcm.edu GRCh37 2 96040111 96040111 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000295225.5:c.249G>A p.Gln83= p.Q83= ENST00000295225 NM_013434.4 83 caG/caA 0 Silent G 35 KCNIP3 SNP 2 G A 95403838 95403838 Baylor NR2F1 7025 hgsc.bcm.edu GRCh37 5 92921109 92921109 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000327111.3:c.380A>G p.Asn127Ser p.N127S ENST00000327111 NM_005654.4 127 aAc/aGc 0 Missense_Mutation A 2 NR2F1 SNP 5 A G 92946865 92946865 Baylor OR5M1 390168 hgsc.bcm.edu GRCh37 11 56380663 56380663 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000526538.1:c.316G>A p.Ala106Thr p.A106T ENST00000526538 NM_001004740.1 106 Gcc/Acc 0 Missense_Mutation C 27 OR5M1 SNP 11 C T 56137239 56137239 Baylor PHF20L1 51105 hgsc.bcm.edu GRCh37 8 133807002 133807002 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395386.2:c.279T>C p.Val93= p.V93= ENST00000395386 NM_016018.4 93 gtT/gtC 0 Silent T 62 PHF20L1 SNP 8 T C 133876184 133876184 Baylor GSAP 54103 hgsc.bcm.edu GRCh37 7 77004374 77004374 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000257626.7:c.785+1G>A p.X262_splice ENST00000257626 NM_017439.3 0 Splice_Site_SNP C 20 PION SNP 7 C T 76842310 76842310 Baylor PPT1 5538 hgsc.bcm.edu GRCh37 1 40546070 40546070 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000433473.3:c.626G>A p.Arg209Gln p.R209Q ENST00000433473 NM_000310.3 209 cGg/cAg 0 Missense_Mutation C 23 PPT1 SNP 1 T T 40318657 40318657 Baylor PRAF2 11230 hgsc.bcm.edu GRCh37 X 48931554 48931554 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000376390.4:c.93G>C p.Gln31His p.Q31H ENST00000376390 NM_007213.1 31 caG/caC 0 Missense_Mutation C 28 PRAF2 SNP 23 C G 48818498 48818498 Baylor PXDNL 137902 hgsc.bcm.edu GRCh37 8 52232509 52232509 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000356297.4:c.4334C>A p.Thr1445Asn p.T1445N ENST00000356297 NM_144651.4 1445 aCc/aAc 0 Missense_Mutation G 44 PXDNL SNP 8 G T 52395062 52395062 Baylor RBM18 92400 hgsc.bcm.edu GRCh37 9 125014155 125014155 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000417201.3:c.211T>A p.Tyr71Asn p.Y71N ENST00000417201 NM_033117.3 71 Tac/Aac 0 Missense_Mutation A 15 RBM18 SNP 9 A T 124053976 124053976 Baylor RENBP 5973 hgsc.bcm.edu GRCh37 X 153207037 153207037 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393700.3:c.839C>A p.Ala280Asp p.A280D ENST00000393700 NM_002910.5 280 gCc/gAc 0 Missense_Mutation G 42 RENBP SNP 23 G T 152860231 152860231 Baylor RNF146 81847 hgsc.bcm.edu GRCh37 6 127608473 127608473 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368314.1:c.715G>A p.Ala239Thr p.A239T ENST00000368314 NM_001242850.1 239 Gca/Aca 0 Missense_Mutation G 46 RNF146 SNP 6 G A 127650166 127650166 Baylor SIN3B 23309 hgsc.bcm.edu GRCh37 19 16973182 16973182 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000379803.1:c.1078G>T p.Ala360Ser p.A360S ENST00000379803 NM_015260.2 360 Gca/Tca 0 Missense_Mutation G 46 SIN3B SNP 19 G T 16834182 16834182 Baylor SLC1A6 6511 hgsc.bcm.edu GRCh37 19 15079174 15079174 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000221742.3:c.489G>A p.Leu163= p.L163= ENST00000221742 NM_005071.2 163 ctG/ctA 0 Silent C 25 SLC1A6 SNP 19 C T 14940174 14940174 Baylor SPAG5 10615 hgsc.bcm.edu GRCh37 17 26918782 26918782 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000321765.5:c.1371C>A p.Ser457Arg p.S457R ENST00000321765 NM_006461.3 457 agC/agA 0 Missense_Mutation G 42 SPAG5 SNP 17 G T 23942909 23942909 Baylor TBCD 6904 hgsc.bcm.edu GRCh37 17 80863815 80863815 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000355528.4:c.1808T>C p.Phe603Ser p.F603S ENST00000355528 NM_005993.4 603 tTc/tCc 0 Missense_Mutation T 62 TBCD SNP 17 T C 78457104 78457104 Baylor TEX2 55852 hgsc.bcm.edu GRCh37 17 62265564 62265564 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000258991.3:c.2409G>C p.Leu803= p.L803= ENST00000258991 NM_001288732.1 803 ctG/ctC 0 Silent C 25 TEX2 SNP 17 C G 59619296 59619296 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578461 7578461 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269305.4:c.469G>T p.Val157Phe p.V157F ENST00000269305 NM_001126112.2 157 Gtc/Ttc 0 Missense_Mutation C 19 TP53 SNP 17 C A 7519186 7519186 Baylor TSPYL1 7259 hgsc.bcm.edu GRCh37 6 116600465 116600466 + inframe_insertion In_Frame_Ins INS - - CAC novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368608.3:c.526_528dup p.Val176dup p.V176dup ENST00000368608 NM_003309.3 176 -/GTG 0 In_Frame_Ins - 62 TSPYL1 INS 6 - CAC 116707159 116707158 Baylor TTC24 164118 hgsc.bcm.edu GRCh37 1 156555516 156555516 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368236.3:c.1468C>T p.Pro490Ser p.P490S ENST00000368236 NM_001105669.2 490 Cca/Tca 0 Missense_Mutation C 30 TTC24 SNP 1 C T 154822140 154822140 Baylor ZFHX4 79776 hgsc.bcm.edu GRCh37 8 77766447 77766447 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000521891.2:c.7290A>G p.Pro2430= p.P2430= ENST00000521891 NM_024721.4 2430 ccA/ccG 0 Silent A 8 ZFHX4 SNP 8 A G 77929002 77929002 Baylor ZNF804A 91752 hgsc.bcm.edu GRCh37 2 185802211 185802211 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1614-01 TCGA-24-1614-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302277.6:c.2088C>A p.Asn696Lys p.N696K ENST00000302277 NM_194250.1 696 aaC/aaA 0 Missense_Mutation C 17 ZNF804A SNP 2 C A 185510456 185510456 Baylor COLEC12 81035 genome.wustl.edu GRCh37 18 346824 346824 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400256.3:c.798G>C p.Gln266His p.Q266H ENST00000400256 NM_130386.2 266 caG/caC 0 Missense_Mutation C 32 COLEC12 SNP 18 C G 336824 336824 WashU LARP4B 23185 genome.wustl.edu GRCh37 10 875530 875530 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316157.3:c.920G>A p.Arg307Gln p.R307Q ENST00000316157 NM_015155.2 307 cGg/cAg 0 Missense_Mutation C 23 LARP4B SNP 10 C T 865530 865530 WashU PRPF8 10594 genome.wustl.edu GRCh37 17 1578513 1578513 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000572621.1:c.2993G>C p.Arg998Pro p.R998P ENST00000572621 998 cGc/cCc 0 Missense_Mutation C 27 PRPF8 SNP 17 G G 1525263 1525263 WashU TGM3 7053 genome.wustl.edu GRCh37 20 2320522 2320522 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381458.5:c.1823G>A p.Arg608Gln p.R608Q ENST00000381458 NM_003245.3 608 cGg/cAg 0 Missense_Mutation G 39 TGM3 SNP 20 G A 2268522 2268522 WashU FAM193A 8603 genome.wustl.edu GRCh37 4 2698260 2698260 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324666.5:c.2574C>T p.Ser858= p.S858= ENST00000324666 NM_001256666.1 858 tcC/tcT 0 Silent C 23 FAM193A SNP 4 C T 2668058 2668058 WashU OR3A4P 390756 genome.wustl.edu GRCh37 17 3214109 3214109 + non_coding_transcript_exon_variant RNA SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000545655.1:n.571C>G *191* ENST00000545655 0 Missense_Mutation C 32 OR3A4 SNP 17 C G 3160859 3160859 WashU ADCY9 115 genome.wustl.edu GRCh37 16 4057505 4057505 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294016.3:c.1748G>T p.Cys583Phe p.C583F ENST00000294016 NM_001116.3 583 tGt/tTt 0 Missense_Mutation C 17 ADCY9 SNP 16 C A 3997506 3997506 WashU BHLHE40 8553 genome.wustl.edu GRCh37 3 5025108 5025108 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256495.3:c.970C>G p.Pro324Ala p.P324A ENST00000256495 NM_003670.2 324 Ccc/Gcc 0 Missense_Mutation C 26 BHLHE40 SNP 3 C G 5000108 5000108 WashU CLDN7 1366 genome.wustl.edu GRCh37 17 7164189 7164189 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360325.7:c.339G>T p.Val113= p.V113= ENST00000360325 NM_001307.5 113 gtG/gtT 0 Silent C 29 CLDN7 SNP 17 C A 7104913 7104913 WashU C19orf45 374877 genome.wustl.edu GRCh37 19 7570999 7570999 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000361664.2:c.1155G>A p.Gln385= p.Q385= ENST00000361664 NM_198534.2 385 caG/caA 0 Silent G 33 C19orf45 SNP 19 G A 7476999 7476999 WashU C19orf45 374877 genome.wustl.edu GRCh37 19 7571020 7571020 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000361664.2:c.1176G>A p.Leu392= p.L392= ENST00000361664 NM_198534.2 392 ttG/ttA 0 Silent G 46 C19orf45 SNP 19 G A 7477020 7477020 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578265 7578265 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.584T>C p.Ile195Thr p.I195T ENST00000269305 NM_001126112.2 195 aTc/aCc 0 Missense_Mutation A 12 TP53 SNP 17 G G 7518990 7518990 WashU STXBP2 6813 genome.wustl.edu GRCh37 19 7705910 7705910 + intron_variant Intron SNP G G T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000221283.5:c.429+21G>T *143* ENST00000221283 NM_006949.3 0 Silent G 47 STXBP2 SNP 19 G T 7611910 7611910 WashU ENO1 2023 genome.wustl.edu GRCh37 1 8926471 8926471 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000234590.4:c.534C>T p.Phe178= p.F178= ENST00000234590 NM_001428.3 178 ttC/ttT 0 Silent G 45 ENO1 SNP 1 G A 8849058 8849058 WashU MYH1 4619 genome.wustl.edu GRCh37 17 10404973 10404973 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000226207.5:c.3286A>G p.Ser1096Gly p.S1096G ENST00000226207 NM_005963.3 1096 Agc/Ggc 0 Missense_Mutation T 56 MYH1 SNP 17 T C 10345698 10345698 WashU SYCP2L 221711 genome.wustl.edu GRCh37 6 10898328 10898328 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000283141.6:c.421G>C p.Asp141His p.D141H ENST00000283141 NM_001040274.2 141 Gat/Cat 0 Missense_Mutation G 33 SYCP2L SNP 6 G C 11006314 11006314 WashU GNAL 2774 genome.wustl.edu GRCh37 18 11880995 11880995 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334049.6:c.1238G>C p.Ser413Thr p.S413T ENST00000334049 NM_182978.3 413 aGc/aCc 0 Missense_Mutation G 34 GNAL SNP 18 G C 11870995 11870995 WashU HSP90AB2P genome.wustl.edu GRCh37 4 13339567 13339567 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000507090.2:n.1462G>T *488* ENST00000507090 0 Missense_Mutation G 33 ENSG00000205940 SNP 4 G T 12948665 12948665 WashU RP11-680G24.4 728138 genome.wustl.edu GRCh37 16 15082524 15082524 + non_coding_transcript_exon_variant,non_coding_transcript_variant RNA SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000567634.1:n.1494G>A *498* ENST00000567634 0 Silent C 23 LOC728138 SNP 16 C T 14990025 14990025 WashU ASB11 140456 genome.wustl.edu GRCh37 X 15306080 15306080 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000480796.1:c.770G>C p.Arg257Thr p.R257T ENST00000480796 257 aGa/aCa 0 Missense_Mutation C 32 ASB11 SNP 23 C G 15216001 15216001 WashU SPEN 23013 genome.wustl.edu GRCh37 1 16203044 16203044 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375759.3:c.752G>C p.Arg251Thr p.R251T ENST00000375759 NM_015001.2 251 aGa/aCa 0 Missense_Mutation G 33 SPEN SNP 1 G C 16075631 16075631 WashU DGCR14 8220 genome.wustl.edu GRCh37 22 19127498 19127498 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000252137.6:c.440G>T p.Ser147Ile p.S147I ENST00000252137 NM_022719.2 147 aGc/aTc 0 Missense_Mutation C 28 DGCR14 SNP 22 C A 17507498 17507498 WashU MSGN1 343930 genome.wustl.edu GRCh37 2 17998044 17998044 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000281047.3:c.259G>A p.Ala87Thr p.A87T ENST00000281047 NM_001105569.1 87 Gcc/Acc 0 Missense_Mutation G 42 MSGN1 SNP 2 G A 17861525 17861525 WashU TERF1P5 genome.wustl.edu GRCh37 13 19255787 19255787 + non_coding_transcript_exon_variant RNA SNP A A T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342224.6:n.1153A>T *385* ENST00000342224 0 Nonsense_Mutation A 1 LOC283523 SNP 13 A T 18153787 18153787 WashU CACNB2 783 genome.wustl.edu GRCh37 10 18787463 18787463 + intron_variant Intron SNP T T A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000324631.7:c.456+57T>A *152* ENST00000324631 NM_201593.2 0 Missense_Mutation T 62 CACNB2 SNP 10 T A 18827469 18827469 WashU UBR4 23352 genome.wustl.edu GRCh37 1 19442123 19442123 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000375254.3:c.10832G>T p.Arg3611Leu p.R3611L ENST00000375254 NM_020765.2 3611 cGc/cTc 0 Missense_Mutation C 27 UBR4 SNP 1 C A 19314710 19314710 WashU EMC1 23065 genome.wustl.edu GRCh37 1 19566406 19566406 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000477853.1:c.860C>T p.Ser287Phe p.S287F ENST00000477853 NM_001271427.1 287 tCc/tTc 0 Missense_Mutation G 41 KIAA0090 SNP 1 G A 19438993 19438993 WashU OR4N4 283694 genome.wustl.edu GRCh37 15 22382870 22382870 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328795.4:c.398C>A p.Ser133Ter p.S133* ENST00000328795 NM_001005241.2 133 tCa/tAa 0 Nonsense_Mutation C 29 OR4N4 SNP 15 C A 19884234 19884234 WashU METTL17 64745 genome.wustl.edu GRCh37 14 21464691 21464691 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382985.4:c.1086G>A p.Lys362= p.K362= ENST00000382985 362 aaG/aaA 0 Silent G 33 METT11D1 SNP 14 G A 20534531 20534531 WashU SLC17A6 57084 genome.wustl.edu GRCh37 11 22380992 22380993 + synonymous_variant Silent DNP CC CC AT novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 CC CC CC AT CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263160.3:c.492_493delinsAT p.ThrLeu164= p.TL164= ENST00000263160 NM_020346.2 164 acCCta/acATta 0 Missense CC 22 SLC17A6 DNP 11 CC AT 22337569 22337568 WashU SACS 26278 genome.wustl.edu GRCh37 13 23913133 23913133 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000382298.3:c.4882C>T p.Gln1628Ter p.Q1628* ENST00000382298 NM_014363.5 1628 Cag/Tag 0 Nonsense_Mutation G 45 SACS SNP 13 G A 22811133 22811133 WashU IGF2BP3 10643 genome.wustl.edu GRCh37 7 23383391 23383391 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258729.3:c.1023G>A p.Glu341= p.E341= ENST00000258729 NM_006547.2 341 gaG/gaA 0 Silent C 24 IGF2BP3 SNP 7 C T 23349916 23349916 WashU ZNF725P genome.wustl.edu GRCh37 19 23675682 23675682 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000596753.1:n.1180G>T *394* ENST00000596753 0 Missense_Mutation C 28 LOC100128853 SNP 19 C A 23467522 23467522 WashU PIWIL3 440822 genome.wustl.edu GRCh37 22 25158369 25158369 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332271.5:c.98C>G p.Ala33Gly p.A33G ENST00000332271 NM_001255975.1 33 gCt/gGt 0 Missense_Mutation G 34 PIWIL3 SNP 22 G C 23488369 23488369 WashU NINL 22981 genome.wustl.edu GRCh37 20 25484690 25484690 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000278886.6:c.759G>T p.Val253= p.V253= ENST00000278886 NM_025176.4 253 gtG/gtT 0 Silent C 29 NINL SNP 20 C A 25432690 25432690 WashU HERC2 8924 genome.wustl.edu GRCh37 15 28459291 28459291 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261609.7:c.6486C>T p.Leu2162= p.L2162= ENST00000261609 NM_004667.5 2162 ctC/ctT 0 Silent G 45 HERC2 SNP 15 G A 26132886 26132886 WashU DSG2 1829 genome.wustl.edu GRCh37 18 29116349 29116349 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261590.8:c.1608A>T p.Lys536Asn p.K536N ENST00000261590 NM_001943.3 536 aaA/aaT 0 Missense_Mutation A 2 DSG2 SNP 18 A T 27370347 27370347 WashU HIST1H2BO 8348 genome.wustl.edu GRCh37 6 27861346 27861346 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000303806.4:c.106G>A p.Glu36Lys p.E36K ENST00000303806 NM_003527.4 36 Gag/Aag 0 Missense_Mutation G 33 HIST1H2BO SNP 6 G A 27969325 27969325 WashU PGBD1 84547 genome.wustl.edu GRCh37 6 28269716 28269716 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405948.2:c.2085C>T p.Ile695= p.I695= ENST00000405948 NM_001184743.1 695 atC/atT 0 Silent C 29 PGBD1 SNP 6 C T 28377695 28377695 WashU B3GALTL 145173 genome.wustl.edu GRCh37 13 31860859 31860859 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343307.4:c.967C>T p.His323Tyr p.H323Y ENST00000343307 NM_194318.3 323 Cat/Tat 0 Missense_Mutation C 29 B3GALTL SNP 13 C T 30758859 30758859 WashU FBXO7 25793 genome.wustl.edu GRCh37 22 32881059 32881059 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000266087.7:c.650C>T p.Thr217Ile p.T217I ENST00000266087 NM_012179.3 217 aCc/aTc 0 Missense_Mutation C 18 FBXO7 SNP 22 C T 31211059 31211059 WashU PUM1 9698 genome.wustl.edu GRCh37 1 31438946 31438946 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000426105.2:c.1969A>G p.Ser657Gly p.S657G ENST00000426105 657 Agc/Ggc 0 Missense_Mutation T 54 PUM1 SNP 1 T C 31211533 31211533 WashU DNM1L 10059 genome.wustl.edu GRCh37 12 32884406 32884406 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000549701.1:c.1317G>T p.Met439Ile p.M439I ENST00000549701 439 atG/atT 0 Missense_Mutation G 46 DNM1L SNP 12 G T 32775673 32775673 WashU RBM12 10137 genome.wustl.edu GRCh37 20 34242062 34242062 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374114.3:c.1183A>G p.Met395Val p.M395V ENST00000374114 NM_001198838.1 395 Atg/Gtg 0 Missense_Mutation T 49 RBM12 SNP 20 T C 33705476 33705476 WashU GJB4 127534 genome.wustl.edu GRCh37 1 35227580 35227580 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000339480.1:c.725G>T p.Gly242Val p.G242V ENST00000339480 NM_153212.2 242 gGa/gTa 0 Missense_Mutation G 41 GJB4 SNP 1 G T 35000167 35000167 WashU CTNNBL1 56259 genome.wustl.edu GRCh37 20 36470759 36470759 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361383.6:c.1330T>C p.Leu444= p.L444= ENST00000361383 NM_030877.4 444 Ttg/Ctg 0 Silent T 60 CTNNBL1 SNP 20 T C 35904173 35904173 WashU TSHZ3 57616 genome.wustl.edu GRCh37 19 31769386 31769386 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000240587.4:c.1313T>C p.Leu438Pro p.L438P ENST00000240587 NM_020856.2 438 cTg/cCg 0 Missense_Mutation A 7 TSHZ3 SNP 19 A G 36461226 36461226 WashU KRT14 3861 genome.wustl.edu GRCh37 17 39739812 39739812 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000167586.6:c.1044G>A p.Gln348= p.Q348= ENST00000167586 NM_000526.4 348 caG/caA 0 Silent C 28 KRT14 SNP 17 C T 36993338 36993338 WashU OTC 5009 genome.wustl.edu GRCh37 X 38211976 38211976 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000039007.4:c.27A>T p.Leu9Phe p.L9F ENST00000039007 NM_000531.5 9 ttA/ttT 0 Missense_Mutation A 13 OTC SNP 23 A T 38096920 38096920 WashU EZH1 2145 genome.wustl.edu GRCh37 17 40854917 40854917 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000428826.2:c.2161G>A p.Glu721Lys p.E721K ENST00000428826 721 Gaa/Aaa 0 Missense_Mutation C 31 EZH1 SNP 17 C T 38108443 38108443 WashU UQCRFS1P1 genome.wustl.edu GRCh37 22 40271862 40271862 + non_coding_transcript_exon_variant RNA SNP G G C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000412347.2:n.568G>C *190* ENST00000412347 0 Missense_Mutation G 36 LOC100128525 SNP 22 G C 38601808 38601808 WashU TOP1 7150 genome.wustl.edu GRCh37 20 39706228 39706228 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361337.2:c.286G>T p.Ala96Ser p.A96S ENST00000361337 NM_003286.2 96 Gcc/Tcc 0 Missense_Mutation G 34 TOP1 SNP 20 G T 39139642 39139642 WashU TREML2 79865 genome.wustl.edu GRCh37 6 41168739 41168739 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000483722.1:c.8C>T p.Pro3Leu p.P3L ENST00000483722 NM_024807.2 3 cCa/cTa 0 Missense_Mutation G 47 TREML2 SNP 6 G A 41276717 41276717 WashU ZNF345 25850 genome.wustl.edu GRCh37 19 37367988 37367988 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000529555.1:c.256G>A p.Gly86Ser p.G86S ENST00000529555 86 Ggt/Agt 0 Missense_Mutation G 47 ZNF345 SNP 19 G A 42059828 42059828 WashU GRXCR1 389207 genome.wustl.edu GRCh37 4 42895288 42895288 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399770.2:c.5T>A p.Leu2His p.L2H ENST00000399770 NM_001080476.2 2 cTt/cAt 0 Missense_Mutation T 56 GRXCR1 SNP 4 T A 42590045 42590045 WashU FCGBP 8857 genome.wustl.edu GRCh37 19 40433544 40433544 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000221347.6:c.725T>C p.Leu242Pro p.L242P ENST00000221347 NM_003890.2 242 cTg/cCg 0 Missense_Mutation A 7 FCGBP SNP 19 A G 45125384 45125384 WashU CYP2A6 1548 genome.wustl.edu GRCh37 19 41356314 41356314 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000301141.5:c.18G>A p.Met6Ile p.M6I ENST00000301141 NM_000762.5 6 atG/atA 0 Missense_Mutation C 25 CYP2A6 SNP 19 C T 46048154 46048154 WashU ENPP4 22875 genome.wustl.edu GRCh37 6 46107815 46107815 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000321037.4:c.495T>C p.Asn165= p.N165= ENST00000321037 NM_014936.4 165 aaT/aaC 0 Silent T 49 ENPP4 SNP 6 T C 46215774 46215774 WashU DIP2A 23181 genome.wustl.edu GRCh37 21 47924306 47924306 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000417564.2:c.688G>A p.Gly230Ser p.G230S ENST00000417564 230 Ggc/Agc 0 Missense_Mutation G 43 DIP2A SNP 21 G A 46748734 46748734 WashU PSG3 5671 genome.wustl.edu GRCh37 19 43237164 43237164 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327495.5:c.481G>A p.Asp161Asn p.D161N ENST00000327495 NM_021016.3 161 Gac/Aac 0 Missense_Mutation C 30 PSG3 SNP 19 C T 47929004 47929004 WashU RB1 5925 genome.wustl.edu GRCh37 13 49039210 49039210 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000267163.4:c.2288G>C p.Arg763Thr p.R763T ENST00000267163 NM_000321.2 763 aGa/aCa 0 Missense_Mutation G 33 RB1 SNP 13 G C 47937211 47937211 WashU ZNF45 7596 genome.wustl.edu GRCh37 19 44423030 44423030 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269973.5:c.227A>G p.Asn76Ser p.N76S ENST00000269973 NM_003425.3 76 aAc/aGc 0 Missense_Mutation T 60 ZNF45 SNP 19 T C 49114870 49114870 WashU SOS2 6655 genome.wustl.edu GRCh37 14 50623835 50623835 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216373.5:c.1939G>C p.Glu647Gln p.E647Q ENST00000216373 NM_006939.2 647 Gaa/Caa 0 Missense_Mutation C 29 SOS2 SNP 14 C G 49693585 49693585 WashU KRT2 3849 genome.wustl.edu GRCh37 12 53039025 53039025 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000309680.3:c.1698C>T p.Gly566= p.G566= ENST00000309680 NM_000423.2 566 ggC/ggT 0 Silent G 38 KRT2 SNP 12 G A 51325292 51325292 WashU PKHD1 5314 genome.wustl.edu GRCh37 6 51732833 51732833 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371117.3:c.7561G>T p.Ala2521Ser p.A2521S ENST00000371117 NM_138694.3 2521 Gca/Tca 0 Missense_Mutation C 25 PKHD1 SNP 6 C A 51840792 51840792 WashU C5AR1 728 genome.wustl.edu GRCh37 19 47823120 47823120 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355085.3:c.86C>T p.Thr29Ile p.T29I ENST00000355085 NM_001736.3 29 aCt/aTt 0 Missense_Mutation C 20 C5AR1 SNP 19 C T 52514960 52514960 WashU RB1CC1 9821 genome.wustl.edu GRCh37 8 53586648 53586648 + synonymous_variant Silent SNP A A C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000025008.5:c.759T>G p.Ser253= p.S253= ENST00000025008 NM_014781.4 253 tcT/tcG 0 Silent A 3 RB1CC1 SNP 8 A C 53749201 53749201 WashU PSME4 23198 genome.wustl.edu GRCh37 2 54122200 54122200 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000404125.1:c.3856T>G p.Tyr1286Asp p.Y1286D ENST00000404125 NM_014614.2 1286 Tat/Gat 0 Missense_Mutation A 13 PSME4 SNP 2 A C 53975704 53975704 WashU IL6ST 3572 genome.wustl.edu GRCh37 5 55259234 55259234 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381298.2:c.759A>T p.Ile253= p.I253= ENST00000381298 NM_175767.2 253 atA/atT 0 Silent T 61 IL6ST SNP 5 T A 55294991 55294991 WashU HMGCLL1 54511 genome.wustl.edu GRCh37 6 55378917 55378917 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398661.2:c.561C>A p.Ser187= p.S187= ENST00000398661 NM_019036.2 187 tcC/tcA 0 Silent G 47 HMGCLL1 SNP 6 G T 55486876 55486876 WashU DST 667 genome.wustl.edu GRCh37 6 56469225 56469225 + intron_variant Intron SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244364.6:c.3673-4206G>A *1225* ENST00000244364 NM_015548.4 0 Missense_Mutation C 29 DST SNP 6 C T 56577184 56577184 WashU SIGLEC12 89858 genome.wustl.edu GRCh37 19 52004722 52004722 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000291707.3:c.266C>T p.Thr89Ile p.T89I ENST00000291707 NM_053003.2 89 aCt/aTt 0 Missense_Mutation G 36 SIGLEC12 SNP 19 G A 56696534 56696534 WashU OR10Q1 219960 genome.wustl.edu GRCh37 11 57995625 57995625 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316770.2:c.723G>A p.Arg241= p.R241= ENST00000316770 NM_001004471.2 241 cgG/cgA 0 Silent C 22 OR10Q1 SNP 11 C T 57752201 57752201 WashU KIR2DL3 3804 genome.wustl.edu GRCh37 19 55250043 55250043 + splice_region_variant,synonymous_variant Splice_Region SNP T T A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000342376.3:c.33T>A p.Val11= p.V11= ENST00000342376 NM_015868.2 11 gtT/gtA 0 Silent T 63 KIR2DL3 SNP 19 T A 59941855 59941855 WashU KIR2DL1 3802 genome.wustl.edu GRCh37 19 55301549 55301549 + non_coding_transcript_exon_variant RNA SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400864.3:n.729C>G *243* ENST00000400864 0 Missense_Mutation C 30 KIR2DL1 SNP 19 C G 59993361 59993361 WashU TPD52L2 7165 genome.wustl.edu GRCh37 20 62507184 62507184 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000217121.5:c.330T>A p.Ser110= p.S110= ENST00000217121 NM_199360.2 110 tcT/tcA 0 Silent T 55 TPD52L2 SNP 20 T A 61977628 61977628 WashU LPHN3 23284 genome.wustl.edu GRCh37 4 62813971 62813971 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000514591.1:c.2578C>G p.Leu860Val p.L860V ENST00000514591 860 Ctg/Gtg 0 Missense_Mutation C 20 LPHN3 SNP 4 C G 62496566 62496566 WashU ASPH 444 genome.wustl.edu GRCh37 8 62555948 62555948 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000379454.4:c.754A>C p.Thr252Pro p.T252P ENST00000379454 NM_004318.3 252 Aca/Cca 0 Missense_Mutation T 57 ASPH SNP 8 T G 62718502 62718502 WashU BPTF 2186 genome.wustl.edu GRCh37 17 65920687 65920688 + missense_variant Missense_Mutation DNP AG AG CC novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 AG AG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000306378.6:c.5733_5734delinsCC p.Val1912Leu p.V1912L ENST00000306378 NM_182641.3 1911 gcAGtt/gcCCtt 0 Missense_Mutation AG 7 BPTF DNP 17 AG CC 63351150 63351149 WashU MZF1 7593 genome.wustl.edu GRCh37 19 59082382 59082382 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000215057.2:c.375G>A p.Glu125= p.E125= ENST00000215057 NM_001267033.1 125 gaG/gaA 0 Silent C 28 MZF1 SNP 19 C T 63774194 63774194 WashU HEPH 9843 genome.wustl.edu GRCh37 X 65409634 65409634 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000519389.1:c.1079C>T p.Ala360Val p.A360V ENST00000519389 360 gCa/gTa 0 Missense_Mutation C 25 HEPH SNP 23 T T 65326359 65326359 WashU PCDH9 5101 genome.wustl.edu GRCh37 13 67205458 67205458 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000544246.1:c.3224G>A p.Gly1075Asp p.G1075D ENST00000544246 NM_203487.2 1075 gGt/gAt 0 Missense_Mutation C 18 PCDH9 SNP 13 C T 66103459 66103459 WashU MPP5 64398 genome.wustl.edu GRCh37 14 67790521 67790521 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261681.4:c.1843A>T p.Asn615Tyr p.N615Y ENST00000261681 NM_022474.3 615 Aat/Tat 0 Missense_Mutation A 9 MPP5 SNP 14 A T 66860274 66860274 WashU ANTXR1 84168 genome.wustl.edu GRCh37 2 69304552 69304552 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303714.4:c.574G>A p.Ala192Thr p.A192T ENST00000303714 NM_032208.2 192 Gcg/Acg 0 Missense_Mutation G 46 ANTXR1 SNP 2 G A 69158056 69158056 WashU CD300LB 124599 genome.wustl.edu GRCh37 17 72527586 72527586 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392621.1:c.15C>G p.Cys5Trp p.C5W ENST00000392621 NM_174892.3 5 tgC/tgG 0 Missense_Mutation G 46 CD300LB SNP 17 G C 70039181 70039181 WashU LRRC7 57554 genome.wustl.edu GRCh37 1 70504433 70504433 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000035383.5:c.2812G>C p.Asp938His p.D938H ENST00000035383 NM_020794.2 938 Gat/Cat 0 Missense_Mutation G 33 LRRC7 SNP 1 G C 70277021 70277021 WashU DDX21 9188 genome.wustl.edu GRCh37 10 70721880 70721880 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354185.4:c.574C>A p.Pro192Thr p.P192T ENST00000354185 NM_001256910.1 192 Ccc/Acc 0 Missense_Mutation C 30 DDX21 SNP 10 C A 70391886 70391886 WashU ZNF516 9658 genome.wustl.edu GRCh37 18 74091912 74091912 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000443185.2:c.2158G>C p.Gly720Arg p.G720R ENST00000443185 NM_014643.3 720 Ggg/Cgg 0 Missense_Mutation C 21 ZNF516 SNP 18 G G 72220900 72220900 WashU ALMS1 7840 genome.wustl.edu GRCh37 2 73676880 73676880 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000264448.6:c.3223G>A p.Val1075Ile p.V1075I ENST00000264448 NM_015120.4 1075 Gtt/Att 0 Missense_Mutation G 36 ALMS1 SNP 2 G A 73530388 73530388 WashU HEXB 3074 genome.wustl.edu GRCh37 5 74014631 74014631 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261416.7:c.1252G>C p.Gly418Arg p.G418R ENST00000261416 NM_000521.3 418 Ggc/Cgc 0 Missense_Mutation G 43 HEXB SNP 5 G C 74050387 74050387 WashU USP54 159195 genome.wustl.edu GRCh37 10 75302825 75302825 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000339859.4:c.440C>T p.Ala147Val p.A147V ENST00000339859 147 gCc/gTc 0 Missense_Mutation G 42 USP54 SNP 10 G A 74972831 74972831 WashU MAGEE1 57692 genome.wustl.edu GRCh37 X 75650481 75650481 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361470.2:c.2158G>C p.Glu720Gln p.E720Q ENST00000361470 NM_020932.2 720 Gag/Cag 0 Missense_Mutation G 33 MAGEE1 SNP 23 G C 75566885 75566885 WashU F2RL2 2151 genome.wustl.edu GRCh37 5 75919040 75919040 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296641.4:c.16T>G p.Phe6Val p.F6V ENST00000296641 NM_004101.3 6 Ttt/Gtt 0 Missense_Mutation A 3 F2RL2 SNP 5 A C 75954796 75954796 WashU ACADM 34 genome.wustl.edu GRCh37 1 76205779 76205779 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000420607.2:c.595G>A p.Gly199Arg p.G199R ENST00000420607 199 Gga/Aga 0 Missense_Mutation G 39 ACADM SNP 1 G A 75978367 75978367 WashU P2RY10 27334 genome.wustl.edu GRCh37 X 78216714 78216714 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000171757.2:c.697C>A p.Gln233Lys p.Q233K ENST00000171757 NM_014499.2 233 Caa/Aaa 0 Missense_Mutation C 21 P2RY10 SNP 23 A A 78103370 78103370 WashU PPP1R12A 4659 genome.wustl.edu GRCh37 12 80215936 80215936 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000450142.2:c.827T>C p.Ile276Thr p.I276T ENST00000450142 NM_002480.2 276 aTt/aCt 0 Missense_Mutation A 4 PPP1R12A SNP 12 A G 78740067 78740067 WashU FRAS1 80144 genome.wustl.edu GRCh37 4 79158685 79158685 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264895.6:c.130G>A p.Asp44Asn p.D44N ENST00000264895 NM_025074.6 44 Gat/Aat 0 Missense_Mutation G 37 FRAS1 SNP 4 G A 79377709 79377709 WashU SV2B 9899 genome.wustl.edu GRCh37 15 91769919 91769919 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000394232.1:c.426G>C p.Leu142= p.L142= ENST00000394232 NM_014848.4 142 ctG/ctC 0 Silent G 48 SV2B SNP 15 G C 89570923 89570923 WashU TTC7B 145567 genome.wustl.edu GRCh37 14 91196491 91196491 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328459.6:c.626C>A p.Pro209His p.P209H ENST00000328459 NM_001010854.1 209 cCc/cAc 0 Missense_Mutation G 43 TTC7B SNP 14 G T 90266244 90266244 WashU MDN1 23195 genome.wustl.edu GRCh37 6 90371845 90371845 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000369393.3:c.14526T>C p.Gly4842= p.G4842= ENST00000369393 4842 ggT/ggC 0 Silent A 6 MDN1 SNP 6 A G 90428566 90428566 WashU SMEK1 55671 genome.wustl.edu GRCh37 14 91931633 91931633 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000554684.1:c.1752G>T p.Met584Ile p.M584I ENST00000554684 NM_001284280.1 584 atG/atT 0 Missense_Mutation C 29 SMEK1 SNP 14 C A 91001386 91001386 WashU SAMD9 54809 genome.wustl.edu GRCh37 7 92732292 92732292 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379958.2:c.3119G>T p.Arg1040Leu p.R1040L ENST00000379958 NM_017654.3 1040 cGc/cTc 0 Missense_Mutation C 27 SAMD9 SNP 7 C A 92570228 92570228 WashU MAML2 84441 genome.wustl.edu GRCh37 11 95712141 95712141 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000524717.1:c.3442C>T p.Leu1148Phe p.L1148F ENST00000524717 NM_032427.1 1148 Ctt/Ttt 0 Missense_Mutation G 33 MAML2 SNP 11 G A 95351789 95351789 WashU SORBS1 10580 genome.wustl.edu GRCh37 10 97135772 97135772 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000371247.2:c.1695A>T p.Glu565Asp p.E565D ENST00000371247 565 gaA/gaT 0 Missense_Mutation T 60 SORBS1 SNP 10 T A 97125762 97125762 WashU TRRAP 8295 genome.wustl.edu GRCh37 7 98553771 98553771 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359863.4:c.5919G>A p.Val1973= p.V1973= ENST00000359863 NM_001244580.1 1973 gtG/gtA 0 Silent G 48 TRRAP SNP 7 G A 98391707 98391707 WashU KRT18P13 3877 genome.wustl.edu GRCh37 9 100461723 100461723 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400056.3:n.520C>T *174* ENST00000400056 0 Missense_Mutation C 27 KRT18P13 SNP 9 C T 99501544 99501544 WashU AZGP1P2 401393 genome.wustl.edu GRCh37 7 100930881 100930881 + non_coding_transcript_exon_variant RNA SNP A A G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000454506.2:n.227T>C *76* ENST00000454506 0 Missense_Mutation A 8 AZGP1P2 SNP 7 A G 100717601 100717601 WashU COL15A1 1306 genome.wustl.edu GRCh37 9 101767281 101767281 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375001.3:c.1302G>A p.Gly434= p.G434= ENST00000375001 NM_001855.4 434 ggG/ggA 0 Silent G 43 COL15A1 SNP 9 G A 100807102 100807102 WashU SIM1 6492 genome.wustl.edu GRCh37 6 100838801 100838801 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369208.3:c.1737G>C p.Glu579Asp p.E579D ENST00000369208 579 gaG/gaC 0 Missense_Mutation C 32 SIM1 SNP 6 C G 100945522 100945522 WashU BIRC3 330 genome.wustl.edu GRCh37 11 102195609 102195609 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263464.3:c.369A>G p.Ser123= p.S123= ENST00000263464 NM_001165.4 123 tcA/tcG 0 Silent A 8 BIRC3 SNP 11 A G 101700819 101700819 WashU DYNC2H1 79659 genome.wustl.edu GRCh37 11 103075606 103075606 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398093.3:c.8367C>T p.Phe2789= p.F2789= ENST00000398093 2789 ttC/ttT 0 Silent C 29 DYNC2H1 SNP 11 C T 102580816 102580816 WashU POLR3B 55703 genome.wustl.edu GRCh37 12 106757662 106757662 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000228347.4:c.87G>T p.Leu29= p.L29= ENST00000228347 NM_018082.5 29 ctG/ctT 0 Silent G 46 POLR3B SNP 12 G T 105281792 105281792 WashU CCDC138 165055 genome.wustl.edu GRCh37 2 109432460 109432460 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000295124.4:c.1105C>G p.His369Asp p.H369D ENST00000295124 NM_144978.1 369 Cat/Gat 0 Missense_Mutation C 29 CCDC138 SNP 2 C G 108798892 108798892 WashU PAK3 5063 genome.wustl.edu GRCh37 X 110366477 110366477 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360648.4:c.146G>T p.Arg49Leu p.R49L ENST00000360648 NM_001128168.1 49 cGc/cTc 0 Missense_Mutation G 38 PAK3 SNP 23 G T 110253133 110253133 WashU PTPN3 5774 genome.wustl.edu GRCh37 9 112168801 112168801 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374541.2:c.1733T>G p.Phe578Cys p.F578C ENST00000374541 NM_001145368.1 578 tTc/tGc 0 Missense_Mutation A 9 PTPN3 SNP 9 A C 111208622 111208622 WashU ADORA3 140 genome.wustl.edu GRCh37 1 112043007 112043007 + intron_variant Intron SNP C C A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369716.4:c.350+2620G>T *117* ENST00000369716 NM_020683.6 0 Missense_Mutation C 21 ADORA3 SNP 1 C A 111844530 111844530 WashU PPP1R3A 5506 genome.wustl.edu GRCh37 7 113558584 113558584 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000284601.3:c.468A>T p.Leu156Phe p.L156F ENST00000284601 NM_002711.3 156 ttA/ttT 0 Missense_Mutation T 53 PPP1R3A SNP 7 T A 113345820 113345820 WashU UGCG 7357 genome.wustl.edu GRCh37 9 114691947 114691947 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000374279.3:c.726G>A p.Ala242= p.A242= ENST00000374279 NM_003358.1 242 gcG/gcA 0 Silent G 37 UGCG SNP 9 G A 113731768 113731768 WashU FRK 2444 genome.wustl.edu GRCh37 6 116325145 116325145 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000606080.1:c.361A>G p.Ile121Val p.I121V ENST00000606080 NM_002031.2 121 Atc/Gtc 0 Missense_Mutation T 52 FRK SNP 6 T C 116431838 116431838 WashU CIT 11113 genome.wustl.edu GRCh37 12 120210661 120210661 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392521.2:c.1995A>G p.Ala665= p.A665= ENST00000392521 NM_001206999.1 665 gcA/gcG 0 Silent T 63 CIT SNP 12 T C 118695044 118695044 WashU OR1N2 138882 genome.wustl.edu GRCh37 9 125315585 125315585 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373688.2:c.137G>C p.Gly46Ala p.G46A ENST00000373688 NM_001004457.1 46 gGc/gCc 0 Missense_Mutation G 42 OR1N2 SNP 9 G C 124355406 124355406 WashU FAT4 79633 genome.wustl.edu GRCh37 4 126329631 126329631 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000394329.3:c.5602G>A p.Asp1868Asn p.D1868N ENST00000394329 NM_024582.4 1868 Gat/Aat 0 Missense_Mutation G 45 FAT4 SNP 4 G A 126549081 126549081 WashU RBM28 55131 genome.wustl.edu GRCh37 7 127953310 127953310 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000223073.2:c.2063A>G p.Lys688Arg p.K688R ENST00000223073 NM_018077.2 688 aAa/aGa 0 Missense_Mutation T 64 RBM28 SNP 7 T C 127740546 127740546 WashU MYB 4602 genome.wustl.edu GRCh37 6 135521506 135521506 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000341911.5:c.1903G>C p.Glu635Gln p.E635Q ENST00000341911 NM_001130173.1 635 Gag/Cag 0 Missense_Mutation G 45 MYB SNP 6 G C 135563199 135563199 WashU CEP63 80254 genome.wustl.edu GRCh37 3 134256056 134256056 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000337090.3:c.501A>T p.Val167= p.V167= ENST00000337090 167 gtA/gtT 0 Silent A 16 CEP63 SNP 3 A T 135738746 135738746 WashU CHRM2 1129 genome.wustl.edu GRCh37 7 136699656 136699656 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000445907.2:c.44C>G p.Thr15Arg p.T15R ENST00000445907 NM_001006627.1 15 aCa/aGa 0 Missense_Mutation C 17 CHRM2 SNP 7 C G 136350196 136350196 WashU CHRM2 1129 genome.wustl.edu GRCh37 7 136700773 136700773 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000445907.2:c.1161G>T p.Arg387Ser p.R387S ENST00000445907 NM_001006627.1 387 agG/agT 0 Missense_Mutation G 41 CHRM2 SNP 7 G T 136351313 136351313 WashU STAG1 10274 genome.wustl.edu GRCh37 3 136068048 136068048 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000383202.2:c.3223G>C p.Val1075Leu p.V1075L ENST00000383202 NM_005862.2 1075 Gta/Cta 0 Missense_Mutation C 20 STAG1 SNP 3 C G 137550738 137550738 WashU PCDHA5 56143 genome.wustl.edu GRCh37 5 140202551 140202551 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000529859.1:c.1191G>A p.Val397= p.V397= ENST00000529859 NM_018908.2 397 gtG/gtA 0 Silent G 48 PCDHA5 SNP 5 G A 140182735 140182735 WashU HDAC3 8841 genome.wustl.edu GRCh37 5 141008824 141008824 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000305264.3:c.526G>C p.Gly176Arg p.G176R ENST00000305264 NM_003883.3 176 Ggg/Cgg 0 Missense_Mutation C 23 HDAC3 SNP 5 C G 140989008 140989008 WashU SPRY4 81848 genome.wustl.edu GRCh37 5 141694585 141694585 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000344120.4:c.158G>T p.Arg53Leu p.R53L ENST00000344120 NM_030964.3 53 cGg/cTg 0 Missense_Mutation C 23 SPRY4 SNP 5 C A 141674769 141674769 WashU PDGFRB 5159 genome.wustl.edu GRCh37 5 149500492 149500492 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261799.4:c.2545C>G p.Arg849Gly p.R849G ENST00000261799 NM_002609.3 849 Cga/Gga 0 Missense_Mutation G 37 PDGFRB SNP 5 G C 149480685 149480685 WashU NUP210L 91181 genome.wustl.edu GRCh37 1 154127401 154127401 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000368559.3:c.120C>T p.Asn40= p.N40= ENST00000368559 NM_207308.2 40 aaC/aaT 0 Silent G 40 NUP210L SNP 1 G A 152394025 152394025 WashU G6PD 2539 genome.wustl.edu GRCh37 X 153762658 153762658 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393562.2:c.629C>T p.Ser210Phe p.S210F ENST00000393562 NM_000402.3 210 tCt/tTt 0 Missense_Mutation G 33 G6PD SNP 23 G A 153415852 153415852 WashU MPP1 4354 genome.wustl.edu GRCh37 X 154012325 154012325 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369534.3:c.843G>C p.Lys281Asn p.K281N ENST00000369534 NM_001166461.1 281 aaG/aaC 0 Missense_Mutation C 32 MPP1 SNP 23 C G 153665519 153665519 WashU SPTA1 6708 genome.wustl.edu GRCh37 1 158637649 158637649 + missense_variant,splice_region_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000368147.4:c.2037A>C p.Lys679Asn p.K679N ENST00000368147 NM_003126.2 679 aaA/aaC 0 Missense_Mutation T 56 SPTA1 SNP 1 T G 156904273 156904273 WashU ATF6 22926 genome.wustl.edu GRCh37 1 161821604 161821604 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000367942.3:c.1412T>C p.Ile471Thr p.I471T ENST00000367942 NM_007348.3 471 aTt/aCt 0 Missense_Mutation T 52 ATF6 SNP 1 T C 160088228 160088228 WashU FAP 2191 genome.wustl.edu GRCh37 2 163074524 163074524 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000188790.4:c.734C>T p.Pro245Leu p.P245L ENST00000188790 NM_004460.2 245 cCt/cTt 0 Missense_Mutation G 35 FAP SNP 2 G A 162782770 162782770 WashU FASTKD1 79675 genome.wustl.edu GRCh37 2 170393800 170393800 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000453153.2:c.2125G>A p.Glu709Lys p.E709K ENST00000453153 NM_024622.4 709 Gag/Aag 0 Missense_Mutation C 32 FASTKD1 SNP 2 C T 170102046 170102046 WashU BRINP2 57795 genome.wustl.edu GRCh37 1 177245514 177245514 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000361539.4:c.956G>C p.Ser319Thr p.S319T ENST00000361539 NM_021165.2 319 aGc/aCc 0 Missense_Mutation G 34 FAM5B SNP 1 G C 175512137 175512137 WashU PDE11A 50940 genome.wustl.edu GRCh37 2 178494184 178494184 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286063.6:c.2753C>A p.Ala918Asp p.A918D ENST00000286063 NM_016953.3 918 gCc/gAc 0 Missense_Mutation G 42 PDE11A SNP 2 G T 178202430 178202430 WashU TTN 7273 genome.wustl.edu GRCh37 2 179425005 179425005 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.85854A>C p.Gly28618= p.G28618= ENST00000589042 NM_001267550.1 28618 ggA/ggC 0 Missense_Mutation T 50 TTN SNP 2 T G 179133251 179133251 WashU TTN 7273 genome.wustl.edu GRCh37 2 179497345 179497345 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000589042.1:c.43388C>T p.Ser14463Leu p.S14463L ENST00000589042 NM_001267550.1 14463 tCa/tTa 0 Missense_Mutation G 45 TTN SNP 2 G A 179205590 179205590 WashU RNASEL 6041 genome.wustl.edu GRCh37 1 182545403 182545403 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000367559.3:c.2027A>G p.Glu676Gly p.E676G ENST00000367559 NM_021133.3 676 gAa/gGa 0 Missense_Mutation T 62 RNASEL SNP 1 T C 180812026 180812026 WashU WWC2 80014 genome.wustl.edu GRCh37 4 184166646 184166646 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000403733.3:c.680C>T p.Ser227Phe p.S227F ENST00000403733 NM_024949.5 227 tCt/tTt 0 Missense_Mutation C 32 WWC2 SNP 4 C T 184403640 184403640 WashU PLA2G4A 5321 genome.wustl.edu GRCh37 1 186919850 186919850 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000367466.3:c.1326C>G p.His442Gln p.H442Q ENST00000367466 NM_024420.2 442 caC/caG 0 Missense_Mutation C 19 PLA2G4A SNP 1 C G 185186473 185186473 WashU EIF2B5 8893 genome.wustl.edu GRCh37 3 183857889 183857889 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000273783.3:c.787A>G p.Asn263Asp p.N263D ENST00000273783 NM_003907.2 263 Aac/Gac 0 Missense_Mutation A 5 EIF2B5 SNP 3 A G 185340583 185340583 WashU FAT1 2195 genome.wustl.edu GRCh37 4 187539064 187539064 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000441802.2:c.8676T>C p.His2892= p.H2892= ENST00000441802 NM_005245.3 2892 caT/caC 0 Silent A 8 FAT1 SNP 4 A G 187776058 187776058 WashU AC092933.3 genome.wustl.edu GRCh37 3 196263486 196263486 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000439929.1:n.84C>T *28* ENST00000439929 0 Silent C 19 LOC642892 SNP 3 C T 197747883 197747883 WashU CARF 79800 genome.wustl.edu GRCh37 2 203807552 203807552 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000402905.3:c.168T>C p.Asn56= p.N56= ENST00000402905 NM_001104586.1 56 aaT/aaC 0 Silent T 52 ALS2CR8 SNP 2 T C 203515797 203515797 WashU MAP2 4133 genome.wustl.edu GRCh37 2 210558772 210558772 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360351.4:c.1878C>G p.Ser626= p.S626= ENST00000360351 NM_002374.3 626 tcC/tcG 0 Silent C 22 MAP2 SNP 2 C G 210267017 210267017 WashU ABCA12 26154 genome.wustl.edu GRCh37 2 215862429 215862429 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272895.7:c.3284G>C p.Arg1095Pro p.R1095P ENST00000272895 NM_173076.2 1095 cGg/cCg 0 Missense_Mutation C 23 ABCA12 SNP 2 C G 215570674 215570674 WashU SPEG 10290 genome.wustl.edu GRCh37 2 220309462 220309462 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312358.7:c.476C>T p.Thr159Met p.T159M ENST00000312358 NM_005876.4 159 aCg/aTg 0 Missense_Mutation C 19 SPEG SNP 2 C T 220017706 220017706 WashU SPHKAP 80309 genome.wustl.edu GRCh37 2 228884251 228884251 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392056.3:c.1319T>C p.Val440Ala p.V440A ENST00000392056 NM_001142644.1 440 gTt/gCt 0 Missense_Mutation A 2 SPHKAP SNP 2 A G 228592495 228592495 WashU TRIP12 9320 genome.wustl.edu GRCh37 2 230650512 230650512 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000283943.5:c.4830C>T p.Gly1610= p.G1610= ENST00000283943 NM_004238.1 1610 ggC/ggT 0 Silent G 46 TRIP12 SNP 2 G A 230358756 230358756 WashU NTPCR 84284 genome.wustl.edu GRCh37 1 233113957 233113957 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366628.5:c.553G>A p.Val185Met p.V185M ENST00000366628 NM_032324.1 185 Gtg/Atg 0 Missense_Mutation G 40 C1orf57 SNP 1 G A 231180580 231180580 WashU ALPP 250 genome.wustl.edu GRCh37 2 233243522 233243522 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392027.2:c.10C>T p.Pro4Ser p.P4S ENST00000392027 NM_001632.3 4 Ccc/Tcc 0 Missense_Mutation C 26 ALPP SNP 2 C T 232951766 232951766 WashU COL6A3 1293 genome.wustl.edu GRCh37 2 238277669 238277669 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000295550.4:c.4437G>T p.Gln1479His p.Q1479H ENST00000295550 NM_004369.3 1479 caG/caT 0 Missense_Mutation C 20 COL6A3 SNP 2 C A 237942408 237942408 WashU UBE2K 3093 genome.wustl.edu GRCh37 4 39747381 39747385 + frameshift_variant Frame_Shift_Del DEL ACCAA ACCAA - novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 ACCAA ACCAA ACCAA - ACCAA ACCAA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261427.5:c.167_171del p.Tyr56SerfsTer12 p.Y56Sfs*12 ENST00000261427 NM_005339.4 56 tACCAA/t 0 Frame_Shift_Del ACCAA 14 UBE2K DEL 4 ACCAA - 39423780 39423776 WashU DIEXF 27042 genome.wustl.edu GRCh37 1 210004268 210004270 + inframe_deletion In_Frame_Del DEL GAG GAG - novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 GAG GAG GAG - GAG GAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000491415.2:c.276_278del p.Glu96del p.E96del ENST00000491415 NM_014388.6 90 GAG/- 0 In_Frame_Del GAG 45 C1orf107 DEL 1 GAG - 208070893 208070891 WashU PKHD1 5314 genome.wustl.edu GRCh37 6 51882397 51882397 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000371117.3:c.5411G>A p.Arg1804His p.R1804H ENST00000371117 NM_138694.3 1804 cGt/cAt 0 Missense_Mutation C 19 PKHD1 SNP 6 C T 51990356 51990356 WashU NXT1 29107 genome.wustl.edu GRCh37 20 23334730 23334730 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000254998.2:c.52G>A p.Glu18Lys p.E18K ENST00000254998 NM_013248.2 18 Gag/Aag 0 Missense_Mutation G 45 NXT1 SNP 20 A G 23282730 23282730 WashU ADSSL1 122622 genome.wustl.edu GRCh37 14 105211240 105211240 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332972.5:c.1294T>A p.Phe432Ile p.F432I ENST00000332972 NM_199165.1 432 Ttc/Atc 0 Missense_Mutation T 64 ADSSL1 SNP 14 T A 104282285 104282285 WashU RP11-252A24.2 genome.wustl.edu GRCh37 16 74385956 74385956 + non_coding_transcript_exon_variant RNA SNP T T C novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000429810.2:n.797A>G *266* ENST00000429810 0 Missense_Mutation T 56 ENSG00000214331 SNP 16 T C 72943457 72943457 WashU DNAH17 8632 genome.wustl.edu GRCh37 17 76487591 76487591 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389840.5:c.6561C>T p.Ile2187= p.I2187= ENST00000389840 2187 atC/atT 0 Silent G 45 DNAH17 SNP 17 G A 73999186 73999186 WashU LGALS3BP 3959 genome.wustl.edu GRCh37 17 76968632 76968632 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01 TCGA-24-1469-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262776.3:c.784G>T p.Asp262Tyr p.D262Y ENST00000262776 NM_005567.3 262 Gac/Tac 0 Missense_Mutation C 30 LGALS3BP SNP 17 C A 74480227 74480227 WashU ACE 1636 hgsc.bcm.edu GRCh37 17 61560856 61560856 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000290866.4:c.1523G>A p.Arg508Gln p.R508Q ENST00000290866 NM_000789.3 508 cGa/cAa 0 Missense_Mutation G 37 ACE SNP 17 G A 58914588 58914588 Baylor ADRBK2 157 hgsc.bcm.edu GRCh37 22 26118326 26118326 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000324198.6:c.1976G>C p.Arg659Pro p.R659P ENST00000324198 NM_005160.3 659 cGt/cCt 0 Missense_Mutation G 40 ADRBK2 SNP 22 G C 24448326 24448326 Baylor ALOX5 240 hgsc.bcm.edu GRCh37 10 45891366 45891366 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000374391.2:c.413C>G p.Thr138Arg p.T138R ENST00000374391 NM_000698.3 138 aCa/aGa 0 Missense_Mutation C 17 ALOX5 SNP 10 C G 45211372 45211372 Baylor APOL3 80833 hgsc.bcm.edu GRCh37 22 36556809 36556809 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000349314.2:c.131C>A p.Ser44Tyr p.S44Y ENST00000349314 NM_145640.2 44 tCt/tAt 0 Missense_Mutation G 33 APOL3 SNP 22 G T 34886755 34886755 Baylor ARMC5 79798 hgsc.bcm.edu GRCh37 16 31473965 31473965 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000268314.4:c.1097G>T p.Arg366Leu p.R366L ENST00000268314 NM_001105247.1 366 cGg/cTg 0 Missense_Mutation G 39 ARMC5 SNP 16 G T 31381466 31381466 Baylor ARMC9 80210 hgsc.bcm.edu GRCh37 2 232081351 232081351 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000349938.4:c.349G>A p.Asp117Asn p.D117N ENST00000349938 NM_025139.4 117 Gac/Aac 0 Missense_Mutation G 41 ARMC9 SNP 2 G A 231789595 231789595 Baylor BCCIP 56647 hgsc.bcm.edu GRCh37 10 127520025 127520025 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000368759.5:c.448C>G p.Leu150Val p.L150V ENST00000368759 NM_016567.3 150 Cta/Gta 0 Missense_Mutation C 32 BCCIP SNP 10 C G 127510015 127510015 Baylor BMP2 650 hgsc.bcm.edu GRCh37 20 6758978 6758978 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378827.4:c.433A>C p.Ile145Leu p.I145L ENST00000378827 NM_001200.2 145 Atc/Ctc 0 Missense_Mutation A 16 BMP2 SNP 20 A C 6706978 6706978 Baylor CAMKV 79012 hgsc.bcm.edu GRCh37 3 49899765 49899765 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000477224.1:c.57G>A p.Glu19= p.E19= ENST00000477224 19 gaG/gaA 0 Silent C 24 CAMKV SNP 3 C T 49874769 49874769 Baylor CCAR1 55749 hgsc.bcm.edu GRCh37 10 70502274 70502274 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265872.6:c.466A>G p.Lys156Glu p.K156E ENST00000265872 NM_018237.2 156 Aaa/Gaa 0 Missense_Mutation A 1 CCAR1 SNP 10 A G 70172280 70172280 Baylor CCNL2 81669 hgsc.bcm.edu GRCh37 1 1322691 1322691 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000400809.3:c.1483C>A p.Arg495= p.R495= ENST00000400809 NM_030937.4 495 Cga/Aga 0 Silent G 40 CCNL2 SNP 1 G T 1312554 1312554 Baylor CELA3B 23436 hgsc.bcm.edu GRCh37 1 22313137 22313137 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000337107.6:c.756G>A p.Val252= p.V252= ENST00000337107 NM_007352.2 252 gtG/gtA 0 Silent G 48 CELA3B SNP 1 G A 22185724 22185724 Baylor CENPF 1063 hgsc.bcm.edu GRCh37 1 214818878 214818878 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000366955.3:c.5965C>G p.Gln1989Glu p.Q1989E ENST00000366955 NM_016343.3 1989 Caa/Gaa 0 Missense_Mutation C 17 CENPF SNP 1 C G 212885501 212885501 Baylor CHAD 1101 hgsc.bcm.edu GRCh37 17 48545482 48545482 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000508540.1:c.693G>C p.Leu231= p.L231= ENST00000508540 NM_001267.2 231 ctG/ctC 0 Silent C 29 CHAD SNP 17 C G 45900481 45900481 Baylor COL9A2 1298 hgsc.bcm.edu GRCh37 1 40771848 40771848 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372748.3:c.1020C>T p.Gly340= p.G340= ENST00000372748 NM_001852.3 340 ggC/ggT 0 Silent G 42 COL9A2 SNP 1 G A 40544435 40544435 Baylor CTR9 9646 hgsc.bcm.edu GRCh37 11 10778347 10778347 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000361367.2:c.554A>G p.Tyr185Cys p.Y185C ENST00000361367 NM_014633.3 185 tAc/tGc 0 Missense_Mutation A 14 CTR9 SNP 11 A G 10734923 10734923 Baylor CYP7B1 9420 hgsc.bcm.edu GRCh37 8 65528284 65528284 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000310193.3:c.814G>A p.Glu272Lys p.E272K ENST00000310193 NM_004820.3 272 Gag/Aag 0 Missense_Mutation C 30 CYP7B1 SNP 8 C T 65690838 65690838 Baylor DPY19L3 147991 hgsc.bcm.edu GRCh37 19 32955670 32955670 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000342179.5:c.1594C>G p.Leu532Val p.L532V ENST00000342179 NM_207325.2 532 Ctg/Gtg 0 Missense_Mutation C 20 DPY19L3 SNP 19 C G 37647510 37647510 Baylor DUS2 54920 hgsc.bcm.edu GRCh37 16 68110598 68110599 + frameshift_variant Frame_Shift_Del DEL GT GT - novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 GT GT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000565263.1:c.1146_1147del p.Lys382AsnfsTer7 p.K382Nfs*7 ENST00000565263 NM_017803.4 382 aaGTtg/aatg 0 Frame_Shift_Del GT 36 DUS2L DEL 16 GT - 66668100 66668099 Baylor DUS2 54920 hgsc.bcm.edu GRCh37 16 68110602 68110602 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000565263.1:c.1150G>T p.Ala384Ser p.A384S ENST00000565263 NM_017803.4 384 Gca/Tca 0 Missense_Mutation G 42 DUS2L SNP 16 G T 66668103 66668103 Baylor ECM1 1893 hgsc.bcm.edu GRCh37 1 150485940 150485940 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369049.4:c.1701A>C p.Glu567Asp p.E567D ENST00000369049 NM_001202858.1 567 gaA/gaC 0 Missense_Mutation A 4 ECM1 SNP 1 A C 148752564 148752564 Baylor EML5 161436 hgsc.bcm.edu GRCh37 14 89151472 89151472 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000554922.1:c.2869G>T p.Asp957Tyr p.D957Y ENST00000554922 NM_183387.2 957 Gat/Tat 0 Missense_Mutation C 32 EML5 SNP 14 C A 88221225 88221225 Baylor FGF6 2251 hgsc.bcm.edu GRCh37 12 4554510 4554510 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000228837.2:c.227G>T p.Ser76Ile p.S76I ENST00000228837 NM_020996.1 76 aGt/aTt 0 Missense_Mutation C 20 FGF6 SNP 12 C A 4424771 4424771 Baylor ARHGEF38 54848 hgsc.bcm.edu GRCh37 4 106473934 106473934 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000420470.2:c.12A>C p.Lys4Asn p.K4N ENST00000420470 NM_001242729.1 4 aaA/aaC 0 Missense_Mutation A 3 ARHGEF38 SNP 4 A C 106693383 106693383 Baylor SIGLECL1 284369 hgsc.bcm.edu GRCh37 19 51768858 51768858 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000316401.7:c.259A>T p.Lys87Ter p.K87* ENST00000316401 NM_173635.1 87 Aag/Tag 0 Nonsense_Mutation A 9 C19ORF75 SNP 19 A T 56460670 56460670 Baylor GALNT1 2589 hgsc.bcm.edu GRCh37 18 33267020 33267020 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269195.5:c.730G>A p.Asp244Asn p.D244N ENST00000269195 NM_020474.3 244 Gat/Aat 0 Missense_Mutation G 45 GALNT1 SNP 18 G A 31521018 31521018 Baylor GOLGB1 2804 hgsc.bcm.edu GRCh37 3 121415640 121415640 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000393667.3:c.3730C>G p.Gln1244Glu p.Q1244E ENST00000393667 NM_001256486.1 1244 Caa/Gaa 0 Missense_Mutation G 45 GOLGB1 SNP 3 G C 122898330 122898330 Baylor HEG1 57493 hgsc.bcm.edu GRCh37 3 124748076 124748076 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000311127.4:c.573G>A p.Glu191= p.E191= ENST00000311127 NM_020733.1 191 gaG/gaA 0 Silent C 32 HEG1 SNP 3 C T 126230766 126230766 Baylor HIST1H1E 3008 hgsc.bcm.edu GRCh37 6 26156999 26156999 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000304218.3:c.381G>A p.Lys127= p.K127= ENST00000304218 NM_005321.2 127 aaG/aaA 0 Silent G 35 HIST1H1E SNP 6 G A 26264978 26264978 Baylor HIST1H3H 8357 hgsc.bcm.edu GRCh37 6 27778121 27778121 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369163.2:c.270G>T p.Val90= p.V90= ENST00000369163 NM_003536.2 90 gtG/gtT 0 Silent G 45 HIST1H3H SNP 6 G T 27886100 27886100 Baylor IARS2 55699 hgsc.bcm.edu GRCh37 1 220311336 220311336 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302637.5:c.2126T>A p.Val709Asp p.V709D ENST00000302637 NM_018060.3 709 gTt/gAt 0 Missense_Mutation T 60 IARS2 SNP 1 T A 218377959 218377959 Baylor IL16 3603 hgsc.bcm.edu GRCh37 15 81585328 81585328 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302987.4:c.1852A>G p.Arg618Gly p.R618G ENST00000302987 618 Aga/Gga 0 Missense_Mutation A 11 IL16 SNP 15 A G 79372383 79372383 Baylor ITM2A 9452 hgsc.bcm.edu GRCh37 X 78616971 78616971 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000373298.2:c.558del p.Arg187AspfsTer13 p.R187Dfs*13 ENST00000373298 NM_004867.4 186 ggC/gg 0 Frame_Shift_Del G 46 ITM2A DEL 23 G - 78503627 78503627 Baylor ITPR1 3708 hgsc.bcm.edu GRCh37 3 4842273 4842273 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000302640.8:c.7051G>A p.Gly2351Ser p.G2351S ENST00000302640 NM_001168272.1 2351 Ggc/Agc 0 Missense_Mutation G 43 ITPR1 SNP 3 G A 4817273 4817273 Baylor KCNAB1 7881 hgsc.bcm.edu GRCh37 3 156234150 156234150 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000490337.1:c.957G>A p.Leu319= p.L319= ENST00000490337 NM_172160.2 319 ctG/ctA 0 Silent G 45 KCNAB1 SNP 3 G A 157716844 157716844 Baylor KDM1A 23028 hgsc.bcm.edu GRCh37 1 23395088 23395088 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000400181.4:c.1236T>A p.Ala412= p.A412= ENST00000400181 NM_001009999.2 412 gcT/gcA 0 Silent T 53 KDM1A SNP 1 T A 23267675 23267675 Baylor KDM5C 8242 hgsc.bcm.edu GRCh37 X 53254005 53254005 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000375401.3:c.67G>C p.Glu23Gln p.E23Q ENST00000375401 NM_004187.3 23 Gag/Cag 0 Missense_Mutation C 31 KDM5C SNP 23 C G 53270730 53270730 Baylor KIAA0196 9897 hgsc.bcm.edu GRCh37 8 126079941 126079941 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000318410.7:c.1171C>T p.Arg391Cys p.R391C ENST00000318410 NM_014846.3 391 Cgc/Tgc 0 Missense_Mutation G 40 KIAA0196 SNP 8 G A 126149123 126149123 Baylor MBD4 8930 hgsc.bcm.edu GRCh37 3 129152027 129152027 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000249910.1:c.1475G>C p.Arg492Thr p.R492T ENST00000249910 492 aGa/aCa 0 Missense_Mutation C 32 MBD4 SNP 3 C G 130634717 130634717 Baylor MGAM 8972 hgsc.bcm.edu GRCh37 7 141722144 141722144 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000549489.2:c.787G>A p.Val263Met p.V263M ENST00000549489 NM_004668.2 263 Gtg/Atg 0 Missense_Mutation G 40 MGAM SNP 7 G A 141368613 141368613 Baylor MMP27 64066 hgsc.bcm.edu GRCh37 11 102564712 102564712 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000260229.4:c.1118T>A p.Val373Glu p.V373E ENST00000260229 NM_022122.2 373 gTg/gAg 0 Missense_Mutation A 6 MMP27 SNP 11 A T 102069922 102069922 Baylor MTFMT 123263 hgsc.bcm.edu GRCh37 15 65308791 65308791 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000220058.4:c.796C>A p.Arg266Ser p.R266S ENST00000220058 NM_139242.3 266 Cgt/Agt 0 Missense_Mutation G 39 MTFMT SNP 15 G T 63095844 63095844 Baylor MTMR12 54545 hgsc.bcm.edu GRCh37 5 32263287 32263287 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000382142.3:c.645G>T p.Leu215= p.L215= ENST00000382142 NM_001040446.1 215 ctG/ctT 0 Silent C 21 MTMR12 SNP 5 C A 32299044 32299044 Baylor MYO1F 4542 hgsc.bcm.edu GRCh37 19 8616669 8616669 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000338257.8:c.726C>T p.Tyr242= p.Y242= ENST00000338257 NM_012335.3 242 taC/taT 0 Silent G 44 MYO1F SNP 19 G A 8522669 8522669 Baylor MYOT 9499 hgsc.bcm.edu GRCh37 5 137213303 137213303 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000239926.4:c.626A>T p.Asp209Val p.D209V ENST00000239926 NM_006790.2 209 gAc/gTc 0 Missense_Mutation A 10 MYOT SNP 5 A T 137241202 137241202 Baylor NAV1 89796 hgsc.bcm.edu GRCh37 1 201751874 201751874 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367296.4:c.2234C>A p.Ala745Glu p.A745E ENST00000367296 NM_020443.4 745 gCa/gAa 0 Missense_Mutation C 25 NAV1 SNP 1 C A 200018497 200018497 Baylor NAV1 89796 hgsc.bcm.edu GRCh37 1 201781663 201781663 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000367296.4:c.5095G>C p.Val1699Leu p.V1699L ENST00000367296 NM_020443.4 1699 Gta/Cta 0 Missense_Mutation G 44 NAV1 SNP 1 G C 200048286 200048286 Baylor NMD3 51068 hgsc.bcm.edu GRCh37 3 160952914 160952914 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000460469.1:c.491T>A p.Leu164Ter p.L164* ENST00000460469 164 tTg/tAg 0 Nonsense_Mutation T 63 NMD3 SNP 3 T A 162435608 162435608 Baylor NUPL2 11097 hgsc.bcm.edu GRCh37 7 23240232 23240233 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000258742.5:c.1140_1141insC p.Ala381ArgfsTer4 p.A381Rfs*4 ENST00000258742 NM_007342.2 380 -/C 0 Frame_Shift_Ins - 63 NUPL2 INS 7 - C 23206758 23206757 Baylor OR10A6 390093 hgsc.bcm.edu GRCh37 11 7949668 7949668 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000309838.2:c.542C>A p.Thr181Asn p.T181N ENST00000309838 NM_001004461.1 181 aCc/aAc 0 Missense_Mutation G 44 OR10A6 SNP 11 G T 7906244 7906244 Baylor PLEK 5341 hgsc.bcm.edu GRCh37 2 68615531 68615531 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000234313.7:c.670T>C p.Phe224Leu p.F224L ENST00000234313 NM_002664.2 224 Ttc/Ctc 0 Missense_Mutation T 60 PLEK SNP 2 T C 68469035 68469035 Baylor POLR1B 84172 hgsc.bcm.edu GRCh37 2 113325654 113325654 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000263331.5:c.1857G>A p.Leu619= p.L619= ENST00000263331 NM_019014.4 619 ctG/ctA 0 Silent G 47 POLR1B SNP 2 G A 113042125 113042125 Baylor PRKCH 5583 hgsc.bcm.edu GRCh37 14 61924287 61924287 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000332981.5:c.1168G>A p.Val390Met p.V390M ENST00000332981 NM_006255.3 390 Gtg/Atg 0 Missense_Mutation G 40 PRKCH SNP 14 G A 60994040 60994040 Baylor PRMT2 3275 hgsc.bcm.edu GRCh37 21 48064295 48064295 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000397637.1:c.222C>T p.Gly74= p.G74= ENST00000397637 74 ggC/ggT 0 Silent C 28 PRMT2 SNP 21 C T 46888723 46888723 Baylor RNF213 57674 hgsc.bcm.edu GRCh37 17 78363028 78363028 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000582970.1:c.15056G>A p.Ser5019Asn p.S5019N ENST00000582970 NM_001256071.1 5019 aGc/aAc 0 Missense_Mutation G 34 RNF213 SNP 17 G A 75977623 75977623 Baylor SAMSN1 64092 hgsc.bcm.edu GRCh37 21 15889331 15889331 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000285670.2:c.365G>A p.Gly122Glu p.G122E ENST00000285670 NM_001256370.1 122 gGa/gAa 0 Missense_Mutation C 30 SAMSN1 SNP 21 C T 14811202 14811202 Baylor SMARCA4 6597 hgsc.bcm.edu GRCh37 19 11113731 11113731 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000344626.4:c.1839C>T p.Ser613= p.S613= ENST00000344626 NM_003072.3 613 agC/agT 0 Silent C 27 SMARCA4 SNP 19 C T 10974731 10974731 Baylor SPR 6697 hgsc.bcm.edu GRCh37 2 73118556 73118556 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000234454.5:c.676A>T p.Lys226Ter p.K226* ENST00000234454 NM_003124.4 226 Aag/Tag 0 Nonsense_Mutation A 9 SPR SNP 2 A T 72972064 72972064 Baylor TAF5L 27097 hgsc.bcm.edu GRCh37 1 229738153 229738153 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000258281.2:c.761C>T p.Pro254Leu p.P254L ENST00000258281 NM_014409.3 254 cCc/cTc 0 Missense_Mutation G 43 TAF5L SNP 1 G A 227804776 227804776 Baylor TEP1 7011 hgsc.bcm.edu GRCh37 14 20851455 20851455 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000262715.5:c.3925C>T p.Gln1309Ter p.Q1309* ENST00000262715 NM_007110.4 1309 Cag/Tag 0 Nonsense_Mutation G 46 TEP1 SNP 14 G A 19921295 19921295 Baylor TG 7038 hgsc.bcm.edu GRCh37 8 133911108 133911108 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000220616.4:c.3283C>A p.Gln1095Lys p.Q1095K ENST00000220616 NM_003235.4 1095 Caa/Aaa 0 Missense_Mutation C 21 TG SNP 8 C A 133980290 133980290 Baylor THSD7B 80731 hgsc.bcm.edu GRCh37 2 138417303 138417303 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000272643.3:c.4454C>A p.Ser1485Tyr p.S1485Y ENST00000272643 1485 tCc/tAc 0 Missense_Mutation C 30 THSD7B SNP 2 C A 138133773 138133773 Baylor TIE1 7075 hgsc.bcm.edu GRCh37 1 43786955 43786955 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372476.3:c.3123C>A p.Val1041= p.V1041= ENST00000372476 NM_005424.4 1041 gtC/gtA 0 Silent C 30 TIE1 SNP 1 C A 43559542 43559542 Baylor TNRC6A 27327 hgsc.bcm.edu GRCh37 16 24801546 24801546 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395799.3:c.1583A>G p.Asn528Ser p.N528S ENST00000395799 NM_014494.2 528 aAt/aGt 0 Missense_Mutation A 4 TNRC6A SNP 16 A G 24709047 24709047 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7576927 7576927 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000269305.4:c.920-1G>A p.X307_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 28 TP53 SNP 17 C T 7517652 7517652 Baylor TRIM33 51592 hgsc.bcm.edu GRCh37 1 114967266 114967266 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000358465.2:c.1807C>T p.Pro603Ser p.P603S ENST00000358465 NM_015906.3 603 Ccc/Tcc 0 Missense_Mutation G 44 TRIM33 SNP 1 G A 114768789 114768789 Baylor TRIOBP 11078 hgsc.bcm.edu GRCh37 22 38120176 38120178 + inframe_deletion In_Frame_Del DEL CCT CCT - novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 CCT CCT . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000406386.3:c.1617_1619del p.Ser540del p.S540del ENST00000406386 NM_001039141.2 538 gCCTcc/gcc 0 In_Frame_Del CCT 26 TRIOBP DEL 22 CCT - 36450124 36450122 Baylor TRMT2B 79979 hgsc.bcm.edu GRCh37 X 100276968 100276968 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372936.3:c.840C>T p.Tyr280= p.Y280= ENST00000372936 NM_024917.5 280 taC/taT 0 Silent G 36 TRMT2B SNP 23 G A 100163624 100163624 Baylor UBIAD1 29914 hgsc.bcm.edu GRCh37 1 11333862 11333862 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1604-01 TCGA-24-1604-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000376810.5:c.274C>A p.Leu92Met p.L92M ENST00000376810 NM_013319.2 92 Ctg/Atg 0 Missense_Mutation C 24 UBIAD1 SNP 1 C A 11256449 11256449 Baylor MACF1 23499 broad.mit.edu GRCh37 1 39900293 39900293 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000545844.1:c.11587G>C p.Glu3863Gln p.E3863Q ENST00000545844 3863 Gag/Cag 0 Missense_Mutation G 33 MACF1 SNP 1 G C 39672880 39672880 Broad ADAR 103 broad.mit.edu GRCh37 1 154562394 154562394 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000368474.4:c.2507C>T p.Thr836Ile p.T836I ENST00000368474 NM_001111.4 836 aCt/aTt 0 Missense_Mutation G 36 ADAR SNP 1 G A 152829018 152829018 Broad OR5P2 120065 broad.mit.edu GRCh37 11 7818171 7818171 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000329434.2:c.319G>A p.Glu107Lys p.E107K ENST00000329434 NM_153444.1 107 Gaa/Aaa 0 Missense_Mutation C 31 OR5P2 SNP 11 C T 7774747 7774747 Broad DYRK2 8445 broad.mit.edu GRCh37 12 68051680 68051680 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000344096.3:c.993G>A p.Ser331= p.S331= ENST00000344096 NM_006482.2 331 tcG/tcA 0 Silent G 37 DYRK2 SNP 12 G A 66337947 66337947 Broad RASAL1 8437 broad.mit.edu GRCh37 12 113568721 113568721 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000546530.1:c.91C>T p.Leu31= p.L31= ENST00000546530 NM_004658.2 31 Cta/Tta 0 Silent G 35 RASAL1 SNP 12 G A 112053104 112053104 Broad PXN 5829 broad.mit.edu GRCh37 12 120653416 120653416 + intron_variant Intron SNP C C T novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000267257.7:c.832-196G>A *278* ENST00000267257 NM_001243756.1 0 Missense_Mutation C 23 PXN SNP 12 C T 119137799 119137799 Broad DYNC1H1 1778 broad.mit.edu GRCh37 14 102446171 102446171 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000360184.4:c.634A>G p.Met212Val p.M212V ENST00000360184 NM_001376.4 212 Atg/Gtg 0 Missense_Mutation A 4 DYNC1H1 SNP 14 A G 101515924 101515924 Broad TRPM1 4308 broad.mit.edu GRCh37 15 31318395 31318395 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000542188.1:c.3627G>A p.Lys1209= p.K1209= ENST00000542188 NM_001252020.1 1209 aaG/aaA 0 Silent C 24 TRPM1 SNP 15 C T 29105687 29105687 Broad GDE1 51573 broad.mit.edu GRCh37 16 19533043 19533043 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000353258.3:c.244C>G p.Leu82Val p.L82V ENST00000353258 NM_016641.3 82 Ctg/Gtg 0 Missense_Mutation G 34 GDE1 SNP 16 G C 19440544 19440544 Broad TP53 7157 broad.mit.edu GRCh37 17 7578226 7578226 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.623A>T p.Asp208Val p.D208V ENST00000269305 NM_001126112.2 208 gAc/gTc 0 Missense_Mutation T 58 TP53 SNP 17 T A 7518951 7518951 Broad MIF4GD 57409 broad.mit.edu GRCh37 17 73263913 73263913 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000577542.1:c.385C>T p.Gln129Ter p.Q129* ENST00000577542 129 Cag/Tag 0 Nonsense_Mutation G 47 MIF4GD SNP 17 G A 70775508 70775508 Broad ZBTB14 7541 broad.mit.edu GRCh37 18 5291171 5291171 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000357006.4:c.1036C>T p.Pro346Ser p.P346S ENST00000357006 NM_001143823.2 346 Cca/Tca 0 Missense_Mutation G 43 ZFP161 SNP 18 G A 5281171 5281171 Broad ANKRD29 147463 broad.mit.edu GRCh37 18 21229074 21229074 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000592179.1:c.105C>T p.Gly35= p.G35= ENST00000592179 NM_173505.2 35 ggC/ggT 0 Silent G 42 ANKRD29 SNP 18 G A 19483072 19483072 Broad MOCOS 55034 broad.mit.edu GRCh37 18 33783136 33783136 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000261326.5:c.1002C>T p.Thr334= p.T334= ENST00000261326 NM_017947.2 334 acC/acT 0 Silent C 22 MOCOS SNP 18 C T 32037134 32037134 Broad ZNF441 126068 broad.mit.edu GRCh37 19 11892139 11892139 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000357901.4:c.1500T>C p.Asp500= p.D500= ENST00000357901 NM_152355.2 500 gaT/gaC 0 Silent T 51 ZNF441 SNP 19 T C 11753139 11753139 Broad ZNF30 90075 broad.mit.edu GRCh37 19 35435239 35435239 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000439785.1:c.1372G>A p.Glu458Lys p.E458K ENST00000439785 NM_001099438.1 458 Gag/Aag 0 Missense_Mutation G 45 ZNF30 SNP 19 G A 40127079 40127079 Broad EGLN2 112398 broad.mit.edu GRCh37 19 41312493 41312493 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000593726.1:c.877G>A p.Gly293Arg p.G293R ENST00000593726 293 Ggg/Agg 0 Missense_Mutation G 39 EGLN2 SNP 19 G A 46004333 46004333 Broad GLTSCR2 29997 broad.mit.edu GRCh37 19 48248863 48248863 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000246802.5:c.47G>C p.Ser16Thr p.S16T ENST00000246802 NM_015710.4 16 aGc/aCc 0 Missense_Mutation G 34 GLTSCR2 SNP 19 G C 52940675 52940675 Broad LILRB5 10990 broad.mit.edu GRCh37 19 54756852 54756852 + splice_acceptor_variant Splice_Site SNP T T C novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000449561.2:c.1358-2A>G p.X453_splice ENST00000449561 0 Splice_Site_SNP T 56 LILRB5 SNP 19 T C 59448664 59448664 Broad DLEC1 9940 broad.mit.edu GRCh37 3 38139095 38139095 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000308059.6:c.2532G>A p.Ser844= p.S844= ENST00000308059 844 tcG/tcA 0 Silent G 38 DLEC1 SNP 3 G A 38114099 38114099 Broad MST1R 4486 broad.mit.edu GRCh37 3 49939840 49939840 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000296474.3:c.1203C>A p.Phe401Leu p.F401L ENST00000296474 NM_002447.2 401 ttC/ttA 0 Missense_Mutation G 41 MST1R SNP 3 G T 49914844 49914844 Broad PI4K2B 55300 broad.mit.edu GRCh37 4 25258233 25258233 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000264864.6:c.693G>A p.Lys231= p.K231= ENST00000264864 NM_018323.3 231 aaG/aaA 0 Silent G 36 PI4K2B SNP 4 G A 24867331 24867331 Broad PCDHB16 57717 broad.mit.edu GRCh37 5 140562279 140562279 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000361016.2:c.145G>C p.Gly49Arg p.G49R ENST00000361016 NM_020957.1 49 Gga/Cga 0 Missense_Mutation G 35 PCDHB16 SNP 5 G C 140542463 140542463 Broad PCDHGA11 56105 broad.mit.edu GRCh37 5 140801598 140801598 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000398587.2:c.804G>A p.Thr268= p.T268= ENST00000398587 NM_032092.1 268 acG/acA 0 Silent G 39 PCDHGA11 SNP 5 G A 140781782 140781782 Broad EBF1 1879 broad.mit.edu GRCh37 5 158524048 158524048 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000313708.6:c.225C>T p.Tyr75= p.Y75= ENST00000313708 NM_024007.3 75 taC/taT 0 Silent G 40 EBF1 SNP 5 G A 158456626 158456626 Broad MUT 4594 broad.mit.edu GRCh37 6 49427168 49427168 + synonymous_variant Silent SNP A A G novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000274813.3:c.12T>C p.Ala4= p.A4= ENST00000274813 NM_000255.3 4 gcT/gcC 0 Silent A 15 MUT SNP 6 A G 49535127 49535127 Broad GPNMB 10457 broad.mit.edu GRCh37 7 23296642 23296642 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000381990.2:c.499G>A p.Gly167Arg p.G167R ENST00000381990 NM_002510.2 167 Gga/Aga 0 Missense_Mutation G 39 GPNMB SNP 7 G A 23263167 23263167 Broad PCLO 27445 broad.mit.edu GRCh37 7 82581858 82581858 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000333891.9:c.8411C>T p.Ala2804Val p.A2804V ENST00000333891 NM_033026.5 2804 gCa/gTa 0 Missense_Mutation G 46 PCLO SNP 7 G A 82419794 82419794 Broad ZSCAN21 7589 broad.mit.edu GRCh37 7 99655002 99655002 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000292450.4:c.373C>T p.Arg125Trp p.R125W ENST00000292450 NM_145914.2 125 Cgg/Tgg 0 Missense_Mutation C 27 ZSCAN21 SNP 7 C T 99492938 99492938 Broad CRB2 286204 broad.mit.edu GRCh37 9 126133040 126133040 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000373631.3:c.1708C>T p.Gln570Ter p.Q570* ENST00000373631 NM_173689.5 570 Cag/Tag 0 Nonsense_Mutation C 21 CRB2 SNP 9 C T 125172861 125172861 Broad RPGR 6103 broad.mit.edu GRCh37 X 38182664 38182664 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000378505.2:c.142G>T p.Ala48Ser p.A48S ENST00000378505 NM_001034853.1 48 Gct/Tct 0 Missense_Mutation C 25 RPGR SNP 23 C A 38067608 38067608 Broad CXCR3 2833 broad.mit.edu GRCh37 X 70836822 70836822 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000373691.4:c.641G>A p.Arg214His p.R214H ENST00000373691 NM_001142797.1 214 cGc/cAc 0 Missense_Mutation C 27 CXCR3 SNP 23 C T 70753547 70753547 Broad RHOXF1 158800 broad.mit.edu GRCh37 X 119249453 119249453 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x ENST00000217999.2:c.320G>A p.Arg107His p.R107H ENST00000217999 NM_139282.2 107 cGc/cAc 0 Missense_Mutation C 27 RHOXF1 SNP 23 C T 119133481 119133481 Broad ZNF644 84146 broad.mit.edu GRCh37 1 91406315 91406316 + missense_variant Missense_Mutation DNP GA GA TT novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000370440.1:c.595_596delinsAA p.Ser199Lys p.S199K ENST00000370440 199 TCa/AAa 0 Missense_Mutation GA 45 ZNF644 DNP 1 GA TT 91178904 91178903 Broad HMCN1 83872 broad.mit.edu GRCh37 1 186059939 186059939 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000271588.4:c.9777T>C p.Leu3259= p.L3259= ENST00000271588 NM_031935.2 3259 ctT/ctC 0 Silent T 62 HMCN1 SNP 1 T C 184326562 184326562 Broad TP53BP2 7159 broad.mit.edu GRCh37 1 223986086 223986086 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000343537.7:c.1779C>T p.Pro593= p.P593= ENST00000343537 NM_001031685.2 593 ccC/ccT 0 Silent G 43 TP53BP2 SNP 1 G A 222052709 222052709 Broad VN1R5 317705 broad.mit.edu GRCh37 1 247420071 247420071 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000472952.2:n.698C>T *233* ENST00000472952 0 Missense_Mutation C 24 VN1R5 SNP 1 C T 245486694 245486694 Broad NUDT5 11164 broad.mit.edu GRCh37 10 12212901 12212901 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000491614.1:c.494G>T p.Gly165Val p.G165V ENST00000491614 165 gGa/gTa 0 Missense_Mutation C 30 NUDT5 SNP 10 C A 12252907 12252907 Broad RUFY2 55680 broad.mit.edu GRCh37 10 70105770 70105770 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000388768.2:c.1776G>C p.Lys592Asn p.K592N ENST00000388768 NM_017987.4 592 aaG/aaC 0 Missense_Mutation C 32 RUFY2 SNP 10 C G 69775776 69775776 Broad LRRC55 219527 broad.mit.edu GRCh37 11 56949889 56949889 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000497933.1:c.522C>T p.Asp174= p.D174= ENST00000497933 NM_001005210.2 174 gaC/gaT 0 Silent C 17 LRRC55 SNP 11 C T 56706465 56706465 Broad FOSL1 8061 broad.mit.edu GRCh37 11 65664476 65664476 + missense_variant,splice_region_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000312562.2:c.101A>G p.Lys34Arg p.K34R ENST00000312562 NM_005438.3 34 aAg/aGg 0 Missense_Mutation T 56 FOSL1 SNP 11 T C 65421052 65421052 Broad SSH3 54961 broad.mit.edu GRCh37 11 67075382 67075382 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000308127.4:c.857G>T p.Ser286Ile p.S286I ENST00000308127 NM_017857.3 286 aGt/aTt 0 Missense_Mutation G 36 SSH3 SNP 11 G T 66831958 66831958 Broad CNTN1 1272 broad.mit.edu GRCh37 12 41337526 41337526 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000551295.2:c.1507G>C p.Asp503His p.D503H ENST00000551295 NM_001843.3 503 Gat/Cat 0 Missense_Mutation G 35 CNTN1 SNP 12 G C 39623793 39623793 Broad PMEL 6490 broad.mit.edu GRCh37 12 56359772 56359772 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000449260.2:c.24C>G p.Cys8Trp p.C8W ENST00000449260 NM_001200054.1 8 tgC/tgG 0 Missense_Mutation G 42 SILV SNP 12 G C 54646039 54646039 Broad PEBP1 5037 broad.mit.edu GRCh37 12 118575880 118575880 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000261313.2:c.172C>G p.Leu58Val p.L58V ENST00000261313 NM_002567.2 58 Ctt/Gtt 0 Missense_Mutation C 32 PEBP1 SNP 12 C G 117060263 117060263 Broad ATP12A 479 broad.mit.edu GRCh37 13 25264510 25264510 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000218548.6:c.581C>A p.Thr194Asn p.T194N ENST00000218548 NM_001185085.1 194 aCc/aAc 0 Missense_Mutation C 18 ATP12A SNP 13 C A 24162510 24162510 Broad DDHD1 80821 broad.mit.edu GRCh37 14 53570519 53570519 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000323669.5:c.894G>A p.Gln298= p.Q298= ENST00000323669 NM_001160148.1 298 caG/caA 0 Silent C 28 DDHD1 SNP 14 C T 52640269 52640269 Broad UNC79 57578 broad.mit.edu GRCh37 14 94079195 94079195 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000256339.4:c.3276C>T p.Asp1092= p.D1092= ENST00000256339 NM_020818.3 1092 gaC/gaT 0 Silent C 19 KIAA1409 SNP 14 C T 93148948 93148948 Broad FES 2242 broad.mit.edu GRCh37 15 91428804 91428804 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000328850.3:c.376G>C p.Glu126Gln p.E126Q ENST00000328850 NM_002005.3 126 Gag/Cag 0 Missense_Mutation G 41 FES SNP 15 G C 89229808 89229808 Broad TP53 7157 broad.mit.edu GRCh37 17 7578406 7578406 + missense_variant Missense_Mutation SNP C C T rs28934578 Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.524G>A p.Arg175His p.R175H ENST00000269305 NM_001126112.2 175 cGc/cAc 0 Missense_Mutation C 27 TP53 SNP 17 C T 7519131 7519131 Broad IKZF3 22806 broad.mit.edu GRCh37 17 37922420 37922420 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000346872.3:c.1153G>C p.Asp385His p.D385H ENST00000346872 NM_012481.4 385 Gac/Cac 0 Missense_Mutation C 31 IKZF3 SNP 17 C G 35175946 35175946 Broad FADS6 283985 broad.mit.edu GRCh37 17 72874579 72874580 + missense_variant Missense_Mutation DNP GT GT CG novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000310226.6:c.933_934delinsCG p.Arg312Gly p.R312G ENST00000310226 NM_178128.3 311 ctACgt/ctCGgt 0 Missense_Mutation GT 40 FADS6 DNP 17 GT CG 70386175 70386174 Broad TYK2 7297 broad.mit.edu GRCh37 19 10463642 10463643 + missense_variant Missense_Mutation DNP AC AC GG novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000525621.1:c.3159_3160delinsCC p.Glu1053_Tyr1054delinsAspHis p.E1053_Y1054delinsDH ENST00000525621 NM_003331.4 1053 gaGTac/gaCCac 0 Missense_Mutation AC 14 TYK2 DNP 19 AC GG 10324643 10324642 Broad TMEM38A 79041 broad.mit.edu GRCh37 19 16790828 16790828 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000187762.2:c.158C>T p.Ala53Val p.A53V ENST00000187762 NM_024074.1 53 gCg/gTg 0 Missense_Mutation C 27 TMEM38A SNP 19 C T 16651828 16651828 Broad RELB 5971 broad.mit.edu GRCh37 19 45525321 45525321 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000221452.8:c.515G>A p.Cys172Tyr p.C172Y ENST00000221452 NM_006509.3 172 tGt/tAt 0 Missense_Mutation G 48 RELB SNP 19 G A 50217161 50217161 Broad MATN3 4148 broad.mit.edu GRCh37 2 20206049 20206049 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000407540.3:c.246G>T p.Leu82Phe p.L82F ENST00000407540 NM_002381.4 82 ttG/ttT 0 Missense_Mutation C 21 MATN3 SNP 2 C A 20069530 20069530 Broad RASGRP3 25780 broad.mit.edu GRCh37 2 33768654 33768654 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000403687.3:c.1354T>C p.Phe452Leu p.F452L ENST00000403687 NM_001139488.1 452 Ttt/Ctt 0 Missense_Mutation T 64 RASGRP3 SNP 2 T C 33622158 33622158 Broad ITPRIPL1 150771 broad.mit.edu GRCh37 2 96993851 96993851 + synonymous_variant Silent SNP C C G novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000361124.4:c.1506C>G p.Leu502= p.L502= ENST00000361124 NM_178495.5 502 ctC/ctG 0 Silent C 29 ITPRIPL1 SNP 2 C G 96357578 96357578 Broad ANKZF1 55139 broad.mit.edu GRCh37 2 220098567 220098567 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000323348.5:c.950G>T p.Gly317Val p.G317V ENST00000323348 NM_018089.2 317 gGg/gTg 0 Missense_Mutation G 43 ANKZF1 SNP 2 G T 219806811 219806811 Broad MYH7B 57644 broad.mit.edu GRCh37 20 33568497 33568497 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000262873.7:c.585A>G p.Ile195Met p.I195M ENST00000262873 NM_020884.3 195 atA/atG 0 Missense_Mutation A 16 MYH7B SNP 20 A G 33032158 33032158 Broad NELFCD 51497 broad.mit.edu GRCh37 20 57566083 57566083 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000602795.1:c.961G>A p.Val321Ile p.V321I ENST00000602795 NM_198976.2 321 Gtc/Atc 0 Missense_Mutation G 40 TH1L SNP 20 G A 56999478 56999478 Broad SLC17A9 63910 broad.mit.edu GRCh37 20 61596986 61596986 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000370351.4:c.970G>A p.Val324Ile p.V324I ENST00000370351 NM_022082.3 324 Gtc/Atc 0 Missense_Mutation G 40 SLC17A9 SNP 20 G A 61067431 61067431 Broad MKL1 57591 broad.mit.edu GRCh37 22 40825758 40825758 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000355630.3:c.153G>A p.Glu51= p.E51= ENST00000355630 NM_020831.3 51 gaG/gaA 0 Silent C 28 MKL1 SNP 22 C T 39155704 39155704 Broad L3MBTL2 83746 broad.mit.edu GRCh37 22 41612212 41612212 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000216237.5:c.466C>A p.Leu156Ile p.L156I ENST00000216237 NM_031488.4 156 Ctc/Atc 0 Missense_Mutation C 24 L3MBTL2 SNP 22 C A 39942158 39942158 Broad NKTR 4820 broad.mit.edu GRCh37 3 42687457 42687458 + missense_variant Missense_Mutation DNP GA GA TC novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000232978.8:c.4379_4380inv p.Arg1460Ile p.R1460I ENST00000232978 NM_005385.3 1460 aGA/aTC 0 Missense_Mutation GA 33 NKTR DNP 3 GA TC 42662462 42662461 Broad SPCS1 28972 broad.mit.edu GRCh37 3 52740293 52740293 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000233025.7:c.232C>A p.Gln78Lys p.Q78K ENST00000233025 NM_014041.3 78 Cag/Aag 0 Missense_Mutation C 25 SPCS1 SNP 3 C A 52715333 52715333 Broad GTF2E1 2960 broad.mit.edu GRCh37 3 120489646 120489646 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000283875.5:c.520C>T p.Arg174Cys p.R174C ENST00000283875 NM_005513.2 174 Cgc/Tgc 0 Missense_Mutation C 19 GTF2E1 SNP 3 C T 121972336 121972336 Broad SH3BP2 6452 broad.mit.edu GRCh37 4 2822468 2822469 + missense_variant Missense_Mutation DNP CA CA AT novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000503393.2:c.295_296delinsAT p.Gln99Met p.Q99M ENST00000503393 NM_001145856.1 99 CAg/ATg 0 Missense_Mutation CA 25 SH3BP2 DNP 4 CA AT 2792267 2792266 Broad PDGFRA 5156 broad.mit.edu GRCh37 4 55144647 55144647 + synonymous_variant Silent SNP C C A novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000257290.5:c.2121C>A p.Ile707= p.I707= ENST00000257290 NM_006206.4 707 atC/atA 0 Silent C 32 PDGFRA SNP 4 C A 54839404 54839404 Broad SCLT1 132320 broad.mit.edu GRCh37 4 129920832 129920832 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000281142.5:c.544C>G p.Gln182Glu p.Q182E ENST00000281142 NM_144643.2 182 Caa/Gaa 0 Missense_Mutation G 48 SCLT1 SNP 4 G C 130140282 130140282 Broad CYFIP2 26999 broad.mit.edu GRCh37 5 156738785 156738785 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000521420.1:c.1028G>T p.Ser343Ile p.S343I ENST00000521420 343 aGt/aTt 0 Missense_Mutation G 36 CYFIP2 SNP 5 G T 156671363 156671363 Broad BAK1 578 broad.mit.edu GRCh37 6 33541965 33541965 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000374467.3:c.377G>C p.Gly126Ala p.G126A ENST00000374467 NM_001188.3 126 gGc/gCc 0 Missense_Mutation C 26 BAK1 SNP 6 C G 33649943 33649943 Broad PKHD1 5314 broad.mit.edu GRCh37 6 51882233 51882233 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000371117.3:c.5575C>A p.Pro1859Thr p.P1859T ENST00000371117 NM_138694.3 1859 Cca/Aca 0 Missense_Mutation G 41 PKHD1 SNP 6 G T 51990192 51990192 Broad FHL5 9457 broad.mit.edu GRCh37 6 97051625 97051625 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000326771.2:c.136A>C p.Lys46Gln p.K46Q ENST00000326771 NM_020482.4 46 Aaa/Caa 0 Missense_Mutation A 1 FHL5 SNP 6 A C 97158346 97158346 Broad SOGA3 387104 broad.mit.edu GRCh37 6 127797484 127797485 + missense_variant,NMD_transcript_variant Missense_Mutation DNP AG AG TA novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000481848.2:c.1686_1687delinsTA p.Phe563Ile p.F563I ENST00000481848 562 tcCTtt/tcTAtt 0 Missense_Mutation AG 3 C6orf174 DNP 6 AG TA 127839178 127839177 Broad TAAR2 9287 broad.mit.edu GRCh37 6 132938805 132938805 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000367931.1:c.540C>T p.Phe180= p.F180= ENST00000367931 180 ttC/ttT 0 Silent G 33 TAAR2 SNP 6 G A 132980498 132980498 Broad NAT1 9 broad.mit.edu GRCh37 8 18080126 18080126 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000545197.1:c.756C>T p.Tyr252= p.Y252= ENST00000545197 NM_001160175.1 252 taC/taT 0 Silent C 20 NAT1 SNP 8 C T 18124406 18124406 Broad XKR4 114786 broad.mit.edu GRCh37 8 56015341 56015341 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000327381.6:c.293T>A p.Leu98Gln p.L98Q ENST00000327381 NM_052898.1 98 cTg/cAg 0 Missense_Mutation T 55 XKR4 SNP 8 T A 56177895 56177895 Broad PQBP1 10084 broad.mit.edu GRCh37 X 48758579 48758580 + splice_donor_variant Splice_Site DNP GT GT CA novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000218224.4:c.179+1_179+2delinsCA p.X60_splice ENST00000218224 NM_005710.2 0 Splice_Site_SNP GT 44 PQBP1 DNP 23 GT CA 48643524 48643523 Broad BCORL1 63035 broad.mit.edu GRCh37 X 129156935 129156935 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000540052.1:c.3671G>A p.Arg1224His p.R1224H ENST00000540052 NM_021946.4 1224 cGc/cAc 0 Missense_Mutation G 38 BCORL1 SNP 23 G A 128984616 128984616 Broad MAGEA5 4104 broad.mit.edu GRCh37 X 151283896 151283896 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000427663.2:n.322G>T *108* ENST00000427663 0 Silent C 17 MAGEA5 SNP 23 C A 151034552 151034552 Broad SRPK3 26576 broad.mit.edu GRCh37 X 153049748 153049748 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000370101.3:c.1148-1G>C p.X383_splice ENST00000370101 NM_001170760.1 0 Splice_Site_SNP G 34 SRPK3 SNP 23 G C 152702942 152702942 Broad SRPK3 26576 broad.mit.edu GRCh37 X 153049750 153049750 + splice_region_variant,synonymous_variant Splice_Region SNP A A T novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown x x x ENST00000370101.3:c.1149A>T p.Thr383= p.T383= ENST00000370101 NM_001170760.1 383 acA/acT 0 Silent A 6 SRPK3 SNP 23 A T 152702944 152702944 Broad AHNAK2 113146 broad.mit.edu GRCh37 14 105414599 105414635 + frameshift_variant Frame_Shift_Del DEL GGCCGGCTCCCTCCGGCACGGGGCCCTCTGGGAGTTT GGCCGGCTCCCTCCGGCACGGGGCCCTCTGGGAGTTT - novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000333244.5:c.7153_7189del p.Lys2385SerfsTer18 p.K2385Sfs*18 ENST00000333244 NM_138420.2 2385 AAACTCCCAGAGGGCCCCGTGCCGGAGGGAGCCGGCCtc/tc 0 Frame_Shift_Del GGCCGGCTCCCTCCGGCACGGGGCCCTCTGGGAGTTT 35 AHNAK2 DEL 14 - GGCCGGCTCCCTCCGGCACGGGGCCCTCTGGGAGTTT 104485680 104485644 Broad ABCB11 8647 broad.mit.edu GRCh37 2 169833196 169833205 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TTCTGGAGTG TTCTGGAGTG - novel Unknown TCGA-61-2003-01 TCGA-61-2003-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000263817.6:c.1198-8_1199del p.X400_splice ENST00000263817 NM_003742.2 0 Splice_Site_Del TTCTGGAGTG 64 ABCB11 DEL 2 - TTCTGGAGTG 169541451 169541442 Broad ZNF281 23528 broad.mit.edu GRCh37 1 200376568 200376568 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000294740.3:c.2266C>A p.His756Asn p.H756N ENST00000294740 NM_001281293.1 756 Cat/Aat 0 Missense_Mutation G 48 ZNF281 SNP 1 G T 198643191 198643191 Broad NSUN6 221078 broad.mit.edu GRCh37 10 18937511 18937511 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000377304.4:c.139T>A p.Ser47Thr p.S47T ENST00000377304 NM_182543.2 47 Tca/Aca 0 Missense_Mutation A 10 NSUN6 SNP 10 A T 18977517 18977517 Broad F2 2147 broad.mit.edu GRCh37 11 46750326 46750326 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000311907.5:c.1411C>T p.Pro471Ser p.P471S ENST00000311907 NM_000506.3 471 Cct/Tct 0 Missense_Mutation C 26 F2 SNP 11 C T 46706902 46706902 Broad SLC43A1 8501 broad.mit.edu GRCh37 11 57268483 57268483 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000278426.3:c.366C>T p.Ala122= p.A122= ENST00000278426 NM_003627.5 122 gcC/gcT 0 Silent G 43 SLC43A1 SNP 11 G A 57025059 57025059 Broad FGF3 2248 broad.mit.edu GRCh37 11 69625283 69625283 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000334134.2:c.510C>T p.Arg170= p.R170= ENST00000334134 NM_005247.2 170 cgC/cgT 0 Silent G 42 FGF3 SNP 11 G A 69334464 69334464 Broad ABCC1 4363 broad.mit.edu GRCh37 16 16196532 16196532 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000399410.3:c.2693A>G p.Asn898Ser p.N898S ENST00000399410 NM_004996.3 898 aAt/aGt 0 Missense_Mutation A 4 ABCC1 SNP 16 A G 16104033 16104033 Broad CD19 930 broad.mit.edu GRCh37 16 28944295 28944295 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000538922.1:c.419C>A p.Ser140Tyr p.S140Y ENST00000538922 NM_001178098.1 140 tCc/tAc 0 Missense_Mutation C 30 CD19 SNP 16 C A 28851796 28851796 Broad PAPD5 64282 broad.mit.edu GRCh37 16 50261840 50261840 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000436909.3:c.1846G>C p.Glu616Gln p.E616Q ENST00000436909 NM_001040285.2 616 Gag/Cag 0 Missense_Mutation G 41 PAPD5 SNP 16 G C 48819341 48819341 Broad PCSK4 54760 broad.mit.edu GRCh37 19 1488242 1488242 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000300954.5:c.332T>G p.Val111Gly p.V111G ENST00000300954 NM_017573.3 111 gTg/gGg 0 Missense_Mutation A 6 PCSK4 SNP 19 A C 1439242 1439242 Broad RETN 56729 broad.mit.edu GRCh37 19 7734747 7734747 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000221515.2:c.159C>T p.Ser53= p.S53= ENST00000221515 NM_020415.3 53 agC/agT 0 Silent C 27 RETN SNP 19 C T 7640747 7640747 Broad SLC7A9 11136 broad.mit.edu GRCh37 19 33355029 33355029 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000023064.4:c.451G>C p.Val151Leu p.V151L ENST00000023064 NM_014270.4 151 Gtg/Ctg 0 Missense_Mutation C 17 SLC7A9 SNP 19 C G 38046869 38046869 Broad PAFAH1B3 5050 broad.mit.edu GRCh37 19 42801424 42801424 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000538771.1:c.502C>T p.Arg168Trp p.R168W ENST00000538771 NM_001145940.1 168 Cgg/Tgg 0 Missense_Mutation G 37 PAFAH1B3 SNP 19 G A 47493264 47493264 Broad USP29 57663 broad.mit.edu GRCh37 19 57642198 57642198 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000254181.4:c.2155A>T p.Lys719Ter p.K719* ENST00000254181 NM_020903.2 719 Aaa/Taa 0 Nonsense_Mutation A 13 USP29 SNP 19 A T 62334010 62334010 Broad HOXD12 3238 broad.mit.edu GRCh37 2 176964687 176964687 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000406506.2:c.158C>A p.Ala53Asp p.A53D ENST00000406506 53 gCc/gAc 0 Missense_Mutation C 26 HOXD12 SNP 2 C A 176672933 176672933 Broad OBSL1 23363 broad.mit.edu GRCh37 2 220421377 220421377 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000404537.1:c.4135T>G p.Phe1379Val p.F1379V ENST00000404537 NM_015311.2 1379 Ttc/Gtc 0 Missense_Mutation A 2 OBSL1 SNP 2 A C 220129621 220129621 Broad LPIN3 64900 broad.mit.edu GRCh37 20 39977418 39977418 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000373257.3:c.448C>G p.Pro150Ala p.P150A ENST00000373257 NM_022896.1 150 Ccc/Gcc 0 Missense_Mutation C 18 LPIN3 SNP 20 C G 39410832 39410832 Broad SEC61A1 29927 broad.mit.edu GRCh37 3 127788458 127788458 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000243253.3:c.1384G>T p.Val462Phe p.V462F ENST00000243253 NM_013336.3 462 Gtt/Ttt 0 Missense_Mutation G 40 SEC61A1 SNP 3 G T 129271148 129271148 Broad XRN1 54464 broad.mit.edu GRCh37 3 142051904 142051904 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000264951.4:c.3967G>A p.Ala1323Thr p.A1323T ENST00000264951 NM_019001.3 1323 Gca/Aca 0 Missense_Mutation C 28 XRN1 SNP 3 C T 143534594 143534594 Broad SKIL 6498 broad.mit.edu GRCh37 3 170078893 170078893 + synonymous_variant Silent SNP T T C novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000458537.3:c.774T>C p.Thr258= p.T258= ENST00000458537 NM_001248008.1 258 acT/acC 0 Silent T 55 SKIL SNP 3 T C 171561587 171561587 Broad ZCCHC4 29063 broad.mit.edu GRCh37 4 25363484 25363484 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000302874.4:c.1015G>C p.Asp339His p.D339H ENST00000302874 NM_024936.2 339 Gat/Cat 0 Missense_Mutation G 33 ZCCHC4 SNP 4 G C 24972582 24972582 Broad LNX1 84708 broad.mit.edu GRCh37 4 54347947 54347947 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000263925.7:c.1425C>T p.Ala475= p.A475= ENST00000263925 NM_001126328.2 475 gcC/gcT 0 Silent G 39 LNX1 SNP 4 G A 54042704 54042704 Broad EXOC1 55763 broad.mit.edu GRCh37 4 56726676 56726676 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000381295.2:c.224T>C p.Leu75Pro p.L75P ENST00000381295 NM_001024924.1 75 cTt/cCt 0 Missense_Mutation T 56 EXOC1 SNP 4 T C 56421433 56421433 Broad GFOD1 54438 broad.mit.edu GRCh37 6 13365261 13365261 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000379287.3:c.887G>A p.Ser296Asn p.S296N ENST00000379287 NM_018988.3 296 aGc/aAc 0 Missense_Mutation C 28 GFOD1 SNP 6 C T 13473240 13473240 Broad BTN2A1 11120 broad.mit.edu GRCh37 6 26459887 26459887 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000312541.5:c.261G>C p.Glu87Asp p.E87D ENST00000312541 NM_007049.4 87 gaG/gaC 0 Missense_Mutation G 34 BTN2A1 SNP 6 G C 26567866 26567866 Broad BMP5 653 broad.mit.edu GRCh37 6 55659173 55659173 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000370830.3:c.736G>A p.Gly246Ser p.G246S ENST00000370830 NM_021073.2 246 Ggt/Agt 0 Missense_Mutation C 22 BMP5 SNP 6 C T 55767132 55767132 Broad TAGAP 117289 broad.mit.edu GRCh37 6 159459153 159459153 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000367066.3:c.891C>A p.Asp297Glu p.D297E ENST00000367066 NM_054114.4 297 gaC/gaA 0 Missense_Mutation G 48 TAGAP SNP 6 G T 159379141 159379141 Broad TSPAN13 27075 broad.mit.edu GRCh37 7 16817486 16817486 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000262067.4:c.376C>G p.Leu126Val p.L126V ENST00000262067 NM_014399.3 126 Cta/Gta 0 Missense_Mutation C 32 TSPAN13 SNP 7 C G 16784011 16784011 Broad ZFHX4 79776 broad.mit.edu GRCh37 8 77766496 77766496 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000521891.2:c.7339C>T p.Gln2447Ter p.Q2447* ENST00000521891 NM_024721.4 2447 Cag/Tag 0 Nonsense_Mutation C 17 ZFHX4 SNP 8 C T 77929051 77929051 Broad MED22 6837 broad.mit.edu GRCh37 9 136211065 136211065 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000491289.1:c.328G>A p.Glu110Lys p.E110K ENST00000491289 110 Gag/Aag 0 Missense_Mutation C 30 MED22 SNP 9 C T 135200886 135200886 Broad BRD3 8019 broad.mit.edu GRCh37 9 136917543 136917543 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000303407.7:c.236A>G p.Asn79Ser p.N79S ENST00000303407 NM_007371.3 79 aAc/aGc 0 Missense_Mutation T 60 BRD3 SNP 9 T C 135907364 135907364 Broad RBBP7 5931 broad.mit.edu GRCh37 X 16870701 16870701 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown x x x ENST00000380084.4:c.1068C>T p.Phe356= p.F356= ENST00000380084 NM_001198719.1 356 ttC/ttT 0 Silent G 37 RBBP7 SNP 23 G A 16780622 16780622 Broad TP53 7157 broad.mit.edu GRCh37 17 7578524 7578524 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.406C>T p.Gln136Ter p.Q136* ENST00000269305 NM_001126112.2 136 Caa/Taa 0 Nonsense_Mutation G 47 TP53 SNP 17 G A 7519249 7519249 Broad KLHDC3 116138 broad.mit.edu GRCh37 6 42985674 42985695 + frameshift_variant Frame_Shift_Del DEL ATCATGTACATTTTTGGGGGCT ATCATGTACATTTTTGGGGGCT - novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000326974.4:c.416_437del p.Ile139ThrfsTer15 p.I139Tfs*15 ENST00000326974 NM_057161.3 139 ATCATGTACATTTTTGGGGGCTac/ac 0 Frame_Shift_Del ATCATGTACATTTTTGGGGGCT 12 KLHDC3 DEL 6 - ATCATGTACATTTTTGGGGGCT 43093673 43093652 Broad PYCRL 65263 broad.mit.edu GRCh37 8 144687927 144687953 + inframe_deletion In_Frame_Del DEL GGCTGCTCGCAGCCCGCCCTGCTCCAG GGCTGCTCGCAGCCCGCCCTGCTCCAG - novel Unknown TCGA-10-0931-01 TCGA-10-0931-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000220966.6:c.778_804del p.Leu260_Ala268del p.L260_A268del ENST00000220966 NM_023078.3 260 CTGGAGCAGGGCGGGCTGCGAGCAGCC/- 0 In_Frame_Del GGCTGCTCGCAGCCCGCCCTGCTCCAG 47 PYCRL DEL 8 - GGCTGCTCGCAGCCCGCCCTGCTCCAG 144759096 144759070 Broad VPS16 64601 genome.wustl.edu GRCh37 20 2847206 2847206 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380445.3:c.2506G>A p.Ala836Thr p.A836T ENST00000380445 NM_022575.2 836 Gcc/Acc 0 Missense_Mutation G 34 VPS16 SNP 20 G A 2795206 2795206 WashU MXRA5 25878 genome.wustl.edu GRCh37 X 3241454 3241454 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000217939.6:c.2272G>A p.Val758Ile p.V758I ENST00000217939 NM_015419.3 758 Gtt/Att 0 Missense_Mutation C 17 MXRA5 SNP 23 C T 3251454 3251454 WashU CAMTA2 23125 genome.wustl.edu GRCh37 17 4883707 4883707 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000414043.3:c.979C>A p.Pro327Thr p.P327T ENST00000414043 NM_001171167.1 327 Ccc/Acc 0 Missense_Mutation G 42 CAMTA2 SNP 17 T T 4824431 4824431 WashU MUC16 94025 genome.wustl.edu GRCh37 19 9073638 9073638 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397910.4:c.13808G>A p.Arg4603Gln p.R4603Q ENST00000397910 NM_024690.2 4603 cGa/cAa 0 Missense_Mutation C 31 MUC16 SNP 19 C T 8934638 8934638 WashU PTCHD2 57540 genome.wustl.edu GRCh37 1 11595685 11595685 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294484.6:c.3800C>T p.Pro1267Leu p.P1267L ENST00000294484 NM_020780.1 1267 cCc/cTc 0 Missense_Mutation C 22 PTCHD2 SNP 1 C T 11518272 11518272 WashU BNC2 54796 genome.wustl.edu GRCh37 9 16437049 16437049 + synonymous_variant Silent SNP T T C novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380672.4:c.1143A>G p.Thr381= p.T381= ENST00000380672 NM_017637.5 381 acA/acG 0 Silent T 59 BNC2 SNP 9 T C 16427049 16427049 WashU KLHDC7A 127707 genome.wustl.edu GRCh37 1 18808184 18808184 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400664.1:c.709G>A p.Gly237Arg p.G237R ENST00000400664 NM_152375.2 237 Ggg/Agg 0 Missense_Mutation G 47 KLHDC7A SNP 1 G A 18680771 18680771 WashU MLLT3 4300 genome.wustl.edu GRCh37 9 20414188 20414188 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380338.4:c.656A>G p.Lys219Arg p.K219R ENST00000380338 NM_004529.2 219 aAa/aGa 0 Missense_Mutation T 64 MLLT3 SNP 9 T C 20404188 20404188 WashU CD93 22918 genome.wustl.edu GRCh37 20 23065457 23065457 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000246006.4:c.1373G>A p.Trp458Ter p.W458* ENST00000246006 NM_012072.3 458 tGg/tAg 0 Nonsense_Mutation C 21 CD93 SNP 20 C T 23013457 23013457 WashU ANKRD20A19P genome.wustl.edu GRCh37 13 24520186 24520186 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 G G A A G A Unknown Valid LOH 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000442969.1:n.736C>T *246* ENST00000442969 0 Missense_Mutation G 41 ENSG00000196593 SNP 13 A A 23418186 23418186 WashU ZNF512 84450 genome.wustl.edu GRCh37 2 27821040 27821040 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355467.4:c.196G>T p.Asp66Tyr p.D66Y ENST00000355467 NM_001271289.1 66 Gat/Tat 0 Missense_Mutation G 45 ZNF512 SNP 2 G T 27674544 27674544 WashU OVCH1 341350 genome.wustl.edu GRCh37 12 29592274 29592274 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000318184.5:c.3251G>T p.Trp1084Leu p.W1084L ENST00000318184 NM_183378.2 1084 tGg/tTg 0 Missense_Mutation C 21 OVCH1 SNP 12 C A 29483541 29483541 WashU CCM2L 140706 genome.wustl.edu GRCh37 20 30610463 30610463 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262659.8:c.934G>T p.Asp312Tyr p.D312Y ENST00000262659 NM_080625.3 312 Gac/Tac 0 Missense_Mutation G 41 C20orf160 SNP 20 G T 30074124 30074124 WashU FAM47C 442444 genome.wustl.edu GRCh37 X 37028284 37028284 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000358047.3:c.1801A>G p.Thr601Ala p.T601A ENST00000358047 NM_001013736.2 601 Act/Gct 0 Missense_Mutation A 10 FAM47C SNP 23 A G 36938205 36938205 WashU TAF8 129685 genome.wustl.edu GRCh37 6 42025185 42025185 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000372977.3:c.423C>T p.Pro141= p.P141= ENST00000372977 NM_138572.2 141 ccC/ccT 0 Silent C 22 TAF8 SNP 6 C T 42133163 42133163 WashU MAOB 4129 genome.wustl.edu GRCh37 X 43652774 43652774 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378069.4:c.820T>A p.Phe274Ile p.F274I ENST00000378069 NM_000898.4 274 Ttc/Atc 0 Missense_Mutation A 3 MAOB SNP 23 A T 43537718 43537718 WashU DYRK1B 9149 genome.wustl.edu GRCh37 19 40321331 40321331 + synonymous_variant Silent SNP G G A novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000593685.1:c.156C>T p.Leu52= p.L52= ENST00000593685 52 ctC/ctT 0 Silent G 45 DYRK1B SNP 19 G A 45013171 45013171 WashU ABCC12 94160 genome.wustl.edu GRCh37 16 48141235 48141235 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311303.3:c.2473C>T p.Arg825Trp p.R825W ENST00000311303 NM_033226.2 825 Cgg/Tgg 0 Missense_Mutation G 40 ABCC12 SNP 16 G A 46698736 46698736 WashU RB1 5925 genome.wustl.edu GRCh37 13 49039374 49039374 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000267163.4:c.2359C>T p.Arg787Ter p.R787* ENST00000267163 NM_000321.2 787 Cga/Tga 0 Nonsense_Mutation C 31 RB1 SNP 13 T T 47937375 47937375 WashU RHOA 387 genome.wustl.edu GRCh37 3 49405912 49405912 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000418115.1:c.226G>A p.Asp76Asn p.D76N ENST00000418115 NM_001664.2 76 Gat/Aat 0 Missense_Mutation C 32 RHOA SNP 3 C T 49380916 49380916 WashU CENPQ 55166 genome.wustl.edu GRCh37 6 49439884 49439884 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335783.3:c.266A>G p.Glu89Gly p.E89G ENST00000335783 NM_018132.3 89 gAa/gGa 0 Missense_Mutation A 9 CENPQ SNP 6 A G 49547843 49547843 WashU ATP9A 10079 genome.wustl.edu GRCh37 20 50292692 50292692 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338821.5:c.855T>A p.Asn285Lys p.N285K ENST00000338821 NM_006045.1 285 aaT/aaA 0 Missense_Mutation A 16 ATP9A SNP 20 A T 49726099 49726099 WashU SAE1 10055 genome.wustl.edu GRCh37 19 47673151 47673151 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270225.7:c.704G>A p.Arg235His p.R235H ENST00000270225 NM_005500.2 235 cGc/cAc 0 Missense_Mutation G 38 SAE1 SNP 19 G A 52364991 52364991 WashU NLRP8 126205 genome.wustl.edu GRCh37 19 56466123 56466123 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000291971.3:c.699C>T p.Tyr233= p.Y233= ENST00000291971 NM_176811.2 233 taC/taT 0 Silent C 19 NLRP8 SNP 19 C T 61157935 61157935 WashU PTPRG 5793 genome.wustl.edu GRCh37 3 61734583 61734583 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000474889.1:c.117C>T p.His39= p.H39= ENST00000474889 NM_002841.3 39 caC/caT 0 Silent C 19 PTPRG SNP 3 C T 61709623 61709623 WashU TTYH2 94015 genome.wustl.edu GRCh37 17 72248453 72248453 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269346.4:c.1197C>T p.Ala399= p.A399= ENST00000269346 NM_032646.5 399 gcC/gcT 0 Silent C 23 TTYH2 SNP 17 T T 69760048 69760048 WashU ZFC3H1 196441 genome.wustl.edu GRCh37 12 72036246 72036246 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378743.3:c.1597A>G p.Met533Val p.M533V ENST00000378743 NM_144982.4 533 Atg/Gtg 0 Missense_Mutation T 49 ZFC3H1 SNP 12 T C 70322513 70322513 WashU PEAK1 79834 genome.wustl.edu GRCh37 15 77425831 77425831 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000560626.2:c.3593G>A p.Ser1198Asn p.S1198N ENST00000560626 1198 aGt/aAt 0 Missense_Mutation C 20 SGK269 SNP 15 C T 75212886 75212886 WashU SPATA31D5P 347127 genome.wustl.edu GRCh37 9 84532488 84532488 + non_coding_transcript_exon_variant RNA SNP C C G novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000527857.1:n.2510C>G *837* ENST00000527857 0 Missense_Mutation C 29 ENSG00000204562 SNP 9 C G 83722308 83722308 WashU MYBPHL 343263 genome.wustl.edu GRCh37 1 109839553 109839553 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357155.1:c.582G>A p.Thr194= p.T194= ENST00000357155 NM_001265613.1 194 acG/acA 0 Silent C 23 MYBPHL SNP 1 C T 109641076 109641076 WashU STRIP1 85369 genome.wustl.edu GRCh37 1 110589333 110589333 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369795.3:c.1448C>T p.Ala483Val p.A483V ENST00000369795 NM_033088.3 483 gCa/gTa 0 Missense_Mutation C 25 FAM40A SNP 1 C T 110390856 110390856 WashU DTX1 1840 genome.wustl.edu GRCh37 12 113534673 113534673 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000257600.3:c.1792G>A p.Ala598Thr p.A598T ENST00000257600 NM_004416.2 598 Gct/Act 0 Missense_Mutation G 38 DTX1 SNP 12 G A 112019056 112019056 WashU UGT8 7368 genome.wustl.edu GRCh37 4 115544519 115544519 + synonymous_variant Silent SNP C C T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310836.6:c.483C>T p.Gly161= p.G161= ENST00000310836 NM_001128174.1 161 ggC/ggT 0 Silent C 26 UGT8 SNP 4 C T 115763968 115763968 WashU DNM1 1759 genome.wustl.edu GRCh37 9 131012488 131012488 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372923.3:c.2171G>A p.Arg724Gln p.R724Q ENST00000372923 NM_004408.2 724 cGg/cAg 0 Missense_Mutation G 39 DNM1 SNP 9 G A 130052309 130052309 WashU HHIP 64399 genome.wustl.edu GRCh37 4 145633225 145633225 + splice_donor_variant Splice_Site SNP T T C novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296575.3:c.1423+2T>C p.X475_splice ENST00000296575 NM_022475.2 0 Splice_Site_SNP T 57 HHIP SNP 4 T C 145852675 145852675 WashU PSMB4 5692 genome.wustl.edu GRCh37 1 151372582 151372582 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000290541.6:c.266G>T p.Arg89Leu p.R89L ENST00000290541 NM_002796.2 89 cGa/cTa 0 Missense_Mutation G 37 PSMB4 SNP 1 G T 149639206 149639206 WashU FLG 2312 genome.wustl.edu GRCh37 1 152275687 152275687 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368799.1:c.11675G>A p.Arg3892Gln p.R3892Q ENST00000368799 NM_002016.1 3892 cGg/cAg 0 Missense_Mutation C 23 FLG SNP 1 C T 150542311 150542311 WashU CENPF 1063 genome.wustl.edu GRCh37 1 214815522 214815522 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366955.3:c.3841A>G p.Thr1281Ala p.T1281A ENST00000366955 NM_016343.3 1281 Aca/Gca 0 Missense_Mutation A 2 CENPF SNP 1 A G 212882145 212882145 WashU COL6A3 1293 genome.wustl.edu GRCh37 2 238285464 238285464 + synonymous_variant Silent SNP T T C novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295550.4:c.3021A>G p.Pro1007= p.P1007= ENST00000295550 NM_004369.3 1007 ccA/ccG 0 Silent T 59 COL6A3 SNP 2 T C 237950203 237950203 WashU PGBD2 267002 genome.wustl.edu GRCh37 1 249211970 249211970 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329291.5:c.1187G>C p.Gly396Ala p.G396A ENST00000329291 NM_170725.2 396 gGt/gCt 0 Missense_Mutation G 44 PGBD2 SNP 1 G C 247178593 247178593 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578532 7578536 + frameshift_variant Frame_Shift_Del DEL ATCTT ATCTT - novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 ATCTT ATCTT - - ATCTT - Unknown Valid LOH 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.394_398del p.Lys132ValfsTer15 p.K132Vfs*15 ENST00000269305 NM_001126112.2 132 AAGATg/g 0 Frame_Shift_Del ATCTT 8 TP53 DEL 17 ATCTT - 7519261 7519257 WashU LOC729794 729794 genome.wustl.edu GRCh37 10 124489060 124489060 + IGR SNP G G A novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 0 Silent G 46 LOC729794 SNP 10 G A 124479050 124479050 WashU CPXM2 119587 genome.wustl.edu GRCh37 10 125506320 125506320 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000241305.3:c.2231G>A p.Arg744Gln p.R744Q ENST00000241305 NM_198148.2 744 cGg/cAg 0 Missense_Mutation C 23 CPXM2 SNP 10 C T 125496310 125496310 WashU AK9 221264 genome.wustl.edu GRCh37 6 109995410 109995410 + missense_variant Missense_Mutation SNP G G T Unknown TCGA-10-0933-01 TCGA-10-0933-11 G G G T G G Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000424296.2:c.172C>A p.Arg58Ser p.R58S ENST00000424296 NM_001145128.2 58 Cgt/Agt 0 Missense_Mutation G 37 AKD1 SNP 6 G T 110102103 110102103 WashU RCE1 9986 genome.wustl.edu GRCh37 11 66611281 66611282 + frameshift_variant Frame_Shift_Del DEL CA CA - Unknown TCGA-10-0933-01 TCGA-10-0933-11 CA CA CA - CA CA Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000309657.3:c.237_238del p.Ser82ThrfsTer59 p.S82Tfs*59 ENST00000309657 NM_005133.2 79 tcCAgt/tcgt 0 Frame_Shift_Del CA 21 RCE1 DEL 11 CA - 66367858 66367857 WashU ZFAND2A 90637 genome.wustl.edu GRCh37 7 1192813 1192813 + frameshift_variant Frame_Shift_Del DEL C C - Unknown TCGA-10-0933-01 TCGA-10-0933-11 C C C - C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000316495.3:c.330del p.Met110IlefsTer? p.M110Ifs*? ENST00000316495 NM_182491.2 110 atG/at 0 Frame_Shift_Del C 25 ZFAND2A DEL 7 C - 1159339 1159339 WashU SMAP2 64744 broad.mit.edu GRCh37 1 40878768 40878768 + synonymous_variant Silent SNP G G A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000372718.3:c.483G>A p.Val161= p.V161= ENST00000372718 NM_022733.2 161 gtG/gtA 0 Silent G 45 SMAP2 SNP 1 G A 40651355 40651355 Broad KLF17 128209 broad.mit.edu GRCh37 1 44595154 44595154 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000372299.3:c.211C>A p.Pro71Thr p.P71T ENST00000372299 NM_173484.3 71 Cct/Act 0 Missense_Mutation C 22 KLF17 SNP 1 C A 44367741 44367741 Broad BCAN 63827 broad.mit.edu GRCh37 1 156621440 156621440 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000329117.5:c.1256C>G p.Ser419Cys p.S419C ENST00000329117 NM_021948.4 419 tCc/tGc 0 Missense_Mutation C 30 BCAN SNP 1 C G 154888064 154888064 Broad DUSP27 92235 broad.mit.edu GRCh37 1 167096825 167096825 + synonymous_variant Silent SNP C C A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000361200.2:c.2457C>A p.Thr819= p.T819= ENST00000361200 819 acC/acA 0 Silent C 21 DUSP27 SNP 1 C A 165363449 165363449 Broad MYOC 4653 broad.mit.edu GRCh37 1 171605462 171605462 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000037502.6:c.1118G>T p.Trp373Leu p.W373L ENST00000037502 NM_000261.1 373 tGg/tTg 0 Missense_Mutation C 21 MYOC SNP 1 C A 169872085 169872085 Broad IL24 11009 broad.mit.edu GRCh37 1 207075388 207075388 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000391929.3:c.511T>A p.Phe171Ile p.F171I ENST00000391929 171 Ttt/Att 0 Missense_Mutation T 60 IL24 SNP 1 T A 205142011 205142011 Broad YOD1 55432 broad.mit.edu GRCh37 1 207222580 207222580 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000315927.4:c.832C>A p.Pro278Thr p.P278T ENST00000315927 NM_018566.3 278 Cca/Aca 0 Missense_Mutation G 41 YOD1 SNP 1 G T 205289203 205289203 Broad YOD1 55432 broad.mit.edu GRCh37 1 207224218 207224218 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000315927.4:c.158C>G p.Ala53Gly p.A53G ENST00000315927 NM_018566.3 53 gCc/gGc 0 Missense_Mutation G 42 YOD1 SNP 1 G C 205290841 205290841 Broad RYR2 6262 broad.mit.edu GRCh37 1 237880587 237880587 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000366574.2:c.10413G>C p.Lys3471Asn p.K3471N ENST00000366574 NM_001035.2 3471 aaG/aaC 0 Missense_Mutation G 34 RYR2 SNP 1 G C 235947210 235947210 Broad UNC5B 219699 broad.mit.edu GRCh37 10 73047481 73047481 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000335350.6:c.860G>A p.Gly287Asp p.G287D ENST00000335350 NM_170744.4 287 gGc/gAc 0 Missense_Mutation G 42 UNC5B SNP 10 G A 72717487 72717487 Broad CCDC147 159686 broad.mit.edu GRCh37 10 106152147 106152147 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000369704.3:c.1522G>T p.Ala508Ser p.A508S ENST00000369704 NM_001008723.1 508 Gct/Tct 0 Missense_Mutation G 42 CCDC147 SNP 10 G T 106142137 106142137 Broad PAOX 196743 broad.mit.edu GRCh37 10 135193944 135193944 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000278060.5:c.623T>C p.Phe208Ser p.F208S ENST00000278060 NM_152911.2 208 tTt/tCt 0 Missense_Mutation T 64 PAOX SNP 10 T C 135043934 135043934 Broad LRRC4C 57689 broad.mit.edu GRCh37 11 40136958 40136958 + synonymous_variant Silent SNP C C T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000278198.2:c.885G>A p.Arg295= p.R295= ENST00000278198 295 cgG/cgA 0 Silent C 30 LRRC4C SNP 11 C T 40093534 40093534 Broad C11orf82 220042 broad.mit.edu GRCh37 11 82644445 82644445 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000533655.1:c.2065A>T p.Ile689Phe p.I689F ENST00000533655 NM_145018.3 689 Att/Ttt 0 Missense_Mutation A 8 C11orf82 SNP 11 A T 82322093 82322093 Broad CTSC 1075 broad.mit.edu GRCh37 11 88042468 88042468 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000227266.5:c.504C>A p.Tyr168Ter p.Y168* ENST00000227266 NM_001814.4 168 taC/taA 0 Nonsense_Mutation G 48 CTSC SNP 11 G T 87682116 87682116 Broad C11orf70 85016 broad.mit.edu GRCh37 11 101937354 101937354 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000434758.2:c.407C>T p.Pro136Leu p.P136L ENST00000434758 NM_032930.2 136 cCa/cTa 0 Missense_Mutation C 21 C11orf70 SNP 11 C T 101442564 101442564 Broad WNK1 65125 broad.mit.edu GRCh37 12 1005549 1005549 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000315939.6:c.5896A>G p.Lys1966Glu p.K1966E ENST00000315939 NM_018979.3 1966 Aag/Gag 0 Missense_Mutation A 5 WNK1 SNP 12 A G 875810 875810 Broad OR6C75 390323 broad.mit.edu GRCh37 12 55758973 55758973 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000343399.3:c.79A>G p.Ile27Val p.I27V ENST00000343399 NM_001005497.1 27 Ata/Gta 0 Missense_Mutation A 8 OR6C75 SNP 12 A G 54045240 54045240 Broad ARHGAP9 64333 broad.mit.edu GRCh37 12 57873157 57873157 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000393791.3:c.33G>T p.Trp11Cys p.W11C ENST00000393791 NM_032496.2 11 tgG/tgT 0 Missense_Mutation C 22 ARHGAP9 SNP 12 C A 56159424 56159424 Broad CENPJ 55835 broad.mit.edu GRCh37 13 25487017 25487017 + synonymous_variant Silent SNP G G A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000381884.4:c.147C>T p.Asp49= p.D49= ENST00000381884 NM_018451.4 49 gaC/gaT 0 Silent G 48 CENPJ SNP 13 G A 24385017 24385017 Broad ERCC5 2073 broad.mit.edu GRCh37 13 103527925 103527925 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000355739.4:c.3233C>T p.Ser1078Phe p.S1078F ENST00000355739 NM_000123.3 1078 tCt/tTt 0 Missense_Mutation C 32 ERCC5 SNP 13 C T 102325926 102325926 Broad LTB4R2 56413 broad.mit.edu GRCh37 14 24779909 24779909 + synonymous_variant Silent SNP G G A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000528054.1:c.132G>A p.Leu44= p.L44= ENST00000528054 44 ctG/ctA 0 Silent G 46 LTB4R2 SNP 14 G A 23849749 23849749 Broad ADAM10 102 broad.mit.edu GRCh37 15 58933092 58933092 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000260408.3:c.896A>T p.Lys299Met p.K299M ENST00000260408 NM_001110.2 299 aAg/aTg 0 Missense_Mutation T 56 ADAM10 SNP 15 T A 56720384 56720384 Broad DNAH3 55567 broad.mit.edu GRCh37 16 21031122 21031122 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000261383.3:c.5846T>A p.Leu1949His p.L1949H ENST00000261383 NM_017539.1 1949 cTc/cAc 0 Missense_Mutation A 11 DNAH3 SNP 16 A T 20938623 20938623 Broad USP31 57478 broad.mit.edu GRCh37 16 23080857 23080857 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000219689.7:c.2569G>A p.Ala857Thr p.A857T ENST00000219689 NM_020718.3 857 Gcc/Acc 0 Missense_Mutation C 26 USP31 SNP 16 C T 22988358 22988358 Broad SULT1A1 6817 broad.mit.edu GRCh37 16 28619665 28619665 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000395609.1:c.319A>G p.Thr107Ala p.T107A ENST00000395609 107 Aca/Gca 0 Missense_Mutation T 58 SULT1A1 SNP 16 T C 28527166 28527166 Broad ITGAM 3684 broad.mit.edu GRCh37 16 31332675 31332675 + synonymous_variant Silent SNP G G T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000544665.3:c.1824G>T p.Gly608= p.G608= ENST00000544665 NM_001145808.1 608 ggG/ggT 0 Silent G 42 ITGAM SNP 16 G T 31240176 31240176 Broad MT1B 4490 broad.mit.edu GRCh37 16 56686494 56686494 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000334346.2:c.40G>T p.Ala14Ser p.A14S ENST00000334346 NM_005947.2 14 Gcc/Tcc 0 Missense_Mutation G 46 MT1B SNP 16 G T 55243995 55243995 Broad KCTD19 146212 broad.mit.edu GRCh37 16 67335749 67335749 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000304372.5:c.720A>C p.Glu240Asp p.E240D ENST00000304372 NM_001100915.1 240 gaA/gaC 0 Missense_Mutation T 64 KCTD19 SNP 16 T G 65893250 65893250 Broad YWHAE 7531 broad.mit.edu GRCh37 17 1268287 1268287 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000264335.8:c.130C>T p.Leu44Phe p.L44F ENST00000264335 NM_006761.4 44 Ctc/Ttc 0 Missense_Mutation G 35 YWHAE SNP 17 G A 1215037 1215037 Broad TP53 7157 broad.mit.edu GRCh37 17 7578268 7578268 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.581T>G p.Leu194Arg p.L194R ENST00000269305 NM_001126112.2 194 cTt/cGt 0 Missense_Mutation A 3 TP53 SNP 17 A C 7518993 7518993 Broad PER1 5187 broad.mit.edu GRCh37 17 8047120 8047120 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000317276.4:c.2536C>T p.Gln846Ter p.Q846* ENST00000317276 NM_002616.2 846 Cag/Tag 0 Nonsense_Mutation G 47 PER1 SNP 17 G A 7987845 7987845 Broad MYH13 8735 broad.mit.edu GRCh37 17 10227413 10227413 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000418404.3:c.2860C>G p.Leu954Val p.L954V ENST00000418404 954 Ctc/Gtc 0 Missense_Mutation G 33 MYH13 SNP 17 G C 10168138 10168138 Broad KRT12 3859 broad.mit.edu GRCh37 17 39019539 39019539 + synonymous_variant Silent SNP C C G novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000251643.4:c.1152G>C p.Leu384= p.L384= ENST00000251643 NM_000223.3 384 ctG/ctC 0 Silent C 17 KRT12 SNP 17 C G 36273065 36273065 Broad HAP1 9001 broad.mit.edu GRCh37 17 39884453 39884453 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000347901.4:c.1200G>C p.Met400Ile p.M400I ENST00000347901 NM_177977.2 400 atG/atC 0 Missense_Mutation C 21 HAP1 SNP 17 C G 37137979 37137979 Broad RUNDC3A 10900 broad.mit.edu GRCh37 17 42390852 42390852 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000426726.3:c.439C>T p.Arg147Cys p.R147C ENST00000426726 NM_001144825.1 147 Cgt/Tgt 0 Missense_Mutation C 27 RUNDC3A SNP 17 C T 39746378 39746378 Broad FARSA 2193 broad.mit.edu GRCh37 19 13035065 13035065 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000314606.4:c.1288G>T p.Val430Leu p.V430L ENST00000314606 NM_004461.2 430 Gtg/Ttg 0 Missense_Mutation C 18 FARSA SNP 19 C A 12896065 12896065 Broad FKBP8 23770 broad.mit.edu GRCh37 19 18650469 18650469 + synonymous_variant Silent SNP G G C novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000608443.1:c.354C>G p.Val118= p.V118= ENST00000608443 118 gtC/gtG 0 Silent G 45 FKBP8 SNP 19 G C 18511469 18511469 Broad MAPRE3 22924 broad.mit.edu GRCh37 2 27248876 27248876 + synonymous_variant Silent SNP C C T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000233121.2:c.753C>T p.Ile251= p.I251= ENST00000233121 251 atC/atT 0 Silent C 29 MAPRE3 SNP 2 C T 27102380 27102380 Broad FAM161A 84140 broad.mit.edu GRCh37 2 62067491 62067491 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000404929.1:c.648T>G p.Asp216Glu p.D216E ENST00000404929 NM_001201543.1 216 gaT/gaG 0 Missense_Mutation A 16 FAM161A SNP 2 A C 61920995 61920995 Broad SOWAHC 65124 broad.mit.edu GRCh37 2 110373153 110373153 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000356454.3:c.1087G>A p.Ala363Thr p.A363T ENST00000356454 NM_023016.3 363 Gcc/Acc 0 Missense_Mutation G 42 ANKRD57 SNP 2 G A 109730442 109730442 Broad TANC1 85461 broad.mit.edu GRCh37 2 160086600 160086600 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000263635.6:c.4663C>T p.Gln1555Ter p.Q1555* ENST00000263635 NM_033394.2 1555 Cag/Tag 0 Nonsense_Mutation C 29 TANC1 SNP 2 C T 159794846 159794846 Broad TTN 7273 broad.mit.edu GRCh37 2 179425591 179425591 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000589042.1:c.85268G>T p.Arg28423Leu p.R28423L ENST00000589042 NM_001267550.1 28423 cGa/cTa 0 Missense_Mutation C 31 TTN SNP 2 C A 179133837 179133837 Broad PROKR2 128674 broad.mit.edu GRCh37 20 5294722 5294722 + synonymous_variant Silent SNP G G A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000546004.1:c.294C>T p.Ser98= p.S98= ENST00000546004 98 tcC/tcT 0 Silent G 39 PROKR2 SNP 20 G A 5242722 5242722 Broad PHF20 51230 broad.mit.edu GRCh37 20 34526765 34526765 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000374012.3:c.2447T>A p.Val816Glu p.V816E ENST00000374012 816 gTg/gAg 0 Missense_Mutation T 59 PHF20 SNP 20 T A 33990179 33990179 Broad MRPL39 54148 broad.mit.edu GRCh37 21 26965162 26965162 + missense_variant Missense_Mutation SNP G G C rs61735761 Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000307301.7:c.883C>G p.Arg295Gly p.R295G ENST00000307301 NM_080794.3 295 Cga/Gga 0 Missense_Mutation G 40 MRPL39 SNP 21 G C 25887033 25887033 Broad SH3BP5 9467 broad.mit.edu GRCh37 3 15298555 15298555 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000383791.3:c.955C>T p.Gln319Ter p.Q319* ENST00000383791 NM_004844.4 319 Cag/Tag 0 Nonsense_Mutation G 47 SH3BP5 SNP 3 G A 15273559 15273559 Broad ANKRD28 23243 broad.mit.edu GRCh37 3 15749562 15749562 + synonymous_variant Silent SNP C C T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000399451.2:c.1326G>A p.Leu442= p.L442= ENST00000399451 NM_015199.3 442 ctG/ctA 0 Silent C 25 ANKRD28 SNP 3 C T 15724566 15724566 Broad SCN5A 6331 broad.mit.edu GRCh37 3 38592052 38592052 + synonymous_variant Silent SNP G G A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000413689.1:c.5811C>T p.Ser1937= p.S1937= ENST00000413689 NM_001160160.1 1937 tcC/tcT 0 Silent G 39 SCN5A SNP 3 G A 38567056 38567056 Broad TM4SF4 7104 broad.mit.edu GRCh37 3 149216648 149216648 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000305354.4:c.541G>T p.Gly181Cys p.G181C ENST00000305354 NM_004617.3 181 Ggc/Tgc 0 Missense_Mutation G 47 TM4SF4 SNP 3 G T 150699338 150699338 Broad CLDN11 5010 broad.mit.edu GRCh37 3 170150371 170150371 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000064724.3:c.451A>G p.Ile151Val p.I151V ENST00000064724 NM_005602.5 151 Atc/Gtc 0 Missense_Mutation A 8 CLDN11 SNP 3 A G 171633065 171633065 Broad TRA2B 6434 broad.mit.edu GRCh37 3 185639898 185639898 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000453386.2:c.539A>G p.Asn180Ser p.N180S ENST00000453386 NM_004593.2 180 aAt/aGt 0 Missense_Mutation T 52 TRA2B SNP 3 T C 187122592 187122592 Broad GRK6 2870 broad.mit.edu GRCh37 5 176857884 176857884 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000528793.1:c.64A>T p.Asn22Tyr p.N22Y ENST00000528793 22 Aat/Tat 0 Missense_Mutation A 1 GRK6 SNP 5 A T 176790490 176790490 Broad LRRC16A 55604 broad.mit.edu GRCh37 6 25517617 25517617 + synonymous_variant Silent SNP T T C novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000329474.6:c.1848T>C p.Phe616= p.F616= ENST00000329474 NM_001173977.1 616 ttT/ttC 0 Silent T 62 LRRC16A SNP 6 T C 25625596 25625596 Broad MAD1L1 8379 broad.mit.edu GRCh37 7 2255794 2255794 + splice_region_variant,synonymous_variant Splice_Region SNP C C A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000406869.1:c.807G>T p.Leu269= p.L269= ENST00000406869 269 ctG/ctT 0 Silent C 25 MAD1L1 SNP 7 C A 2222320 2222320 Broad ABCB5 340273 broad.mit.edu GRCh37 7 20685402 20685402 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000404938.2:c.702G>T p.Lys234Asn p.K234N ENST00000404938 NM_001163941.1 234 aaG/aaT 0 Missense_Mutation G 35 ABCB5 SNP 7 G T 20651927 20651927 Broad NPC1L1 29881 broad.mit.edu GRCh37 7 44579342 44579342 + synonymous_variant Silent SNP G G T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000289547.4:c.654C>A p.Ile218= p.I218= ENST00000289547 NM_013389.2 218 atC/atA 0 Silent G 45 NPC1L1 SNP 7 G T 44545867 44545867 Broad MUC17 140453 broad.mit.edu GRCh37 7 100685760 100685760 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000306151.4:c.11063C>A p.Thr3688Lys p.T3688K ENST00000306151 NM_001040105.1 3688 aCg/aAg 0 Missense_Mutation C 19 MUC17 SNP 7 C A 100472480 100472480 Broad ZBTB10 65986 broad.mit.edu GRCh37 8 81430806 81430806 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000430430.1:c.2129G>A p.Trp710Ter p.W710* ENST00000430430 710 tGg/tAg 0 Nonsense_Mutation G 47 ZBTB10 SNP 8 G A 81593361 81593361 Broad PKHD1L1 93035 broad.mit.edu GRCh37 8 110397798 110397798 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000378402.5:c.508A>T p.Thr170Ser p.T170S ENST00000378402 NM_177531.4 170 Act/Tct 0 Missense_Mutation A 6 PKHD1L1 SNP 8 A T 110466974 110466974 Broad PTPRD 5789 broad.mit.edu GRCh37 9 8497241 8497241 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000356435.5:c.2349+1G>T p.X783_splice ENST00000356435 0 Splice_Site_SNP C 17 PTPRD SNP 9 C A 8487241 8487241 Broad ZNF79 7633 broad.mit.edu GRCh37 9 130198267 130198267 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000342483.5:c.313C>T p.Arg105Ter p.R105* ENST00000342483 NM_007135.2 105 Cga/Tga 0 Nonsense_Mutation C 27 ZNF79 SNP 9 C T 129238088 129238088 Broad WNK3 65267 broad.mit.edu GRCh37 X 54321213 54321213 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000354646.2:c.1466C>T p.Thr489Met p.T489M ENST00000354646 NM_020922.4 489 aCg/aTg 0 Missense_Mutation G 40 WNK3 SNP 23 G A 54337938 54337938 Broad XKRX 402415 broad.mit.edu GRCh37 X 100169657 100169657 + synonymous_variant Silent SNP G G T rs61740851 Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000372956.2:c.1020C>A p.Val340= p.V340= ENST00000372956 340 gtC/gtA 0 Silent G 37 XKRX SNP 23 G T 100056313 100056313 Broad DCAF12L2 340578 broad.mit.edu GRCh37 X 125299722 125299722 + synonymous_variant Silent SNP C C A novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown x x x ENST00000538699.1:c.186G>T p.Ala62= p.A62= ENST00000538699 NM_001013628.2 62 gcG/gcT 0 Silent C 27 DCAF12L2 SNP 23 C A 125127403 125127403 Broad DDX60L 91351 broad.mit.edu GRCh37 4 169374281 169374307 + inframe_deletion In_Frame_Del DEL TAAGAAAGAATCACTGTTCCTAATCCA TAAGAAAGAATCACTGTTCCTAATCCA - novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000260184.7:c.964_990del p.Trp322_Leu330del p.W322_L330del ENST00000260184 NM_001012967.1 322 TGGATTAGGAACAGTGATTCTTTCTTA/- 0 In_Frame_Del TAAGAAAGAATCACTGTTCCTAATCCA 61 DDX60L DEL 4 - TAAGAAAGAATCACTGTTCCTAATCCA 169610882 169610856 Broad LATS1 9113 broad.mit.edu GRCh37 6 150023030 150023030 + frameshift_variant Frame_Shift_Del DEL A A - novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000253339.5:c.233del p.Leu78CysfsTer54 p.L78Cfs*54 ENST00000253339 78 tTg/tg 0 Frame_Shift_Del A 5 LATS1 DEL 6 - A 150064723 150064723 Broad SAMD9L 219285 broad.mit.edu GRCh37 7 92763627 92763628 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000318238.4:c.1657dup p.Val553GlyfsTer10 p.V553Gfs*10 ENST00000318238 NM_152703.2 553 gtg/gGtg 0 Frame_Shift_Ins - 6 SAMD9L INS 7 C - 92601564 92601563 Broad BCORL1 63035 broad.mit.edu GRCh37 X 129149426 129149441 + frameshift_variant Frame_Shift_Del DEL GCTCCTTCGTTCCAGA GCTCCTTCGTTCCAGA - novel Unknown TCGA-30-1891-01 TCGA-30-1891-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000540052.1:c.2680_2695del p.Ser894ArgfsTer26 p.S894Rfs*26 ENST00000540052 NM_021946.4 893 gGCTCCTTCGTTCCAGAg/gg 0 Frame_Shift_Del GCTCCTTCGTTCCAGA 42 BCORL1 DEL 23 - GCTCCTTCGTTCCAGA 128977122 128977107 Broad IQCC 55721 broad.mit.edu GRCh37 1 32673193 32673193 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000537469.1:c.1151A>T p.Asp384Val p.D384V ENST00000537469 NM_001160042.1 384 gAt/gTt 0 Missense_Mutation A 12 IQCC SNP 1 A T 32445780 32445780 Broad MAP7D1 55700 broad.mit.edu GRCh37 1 36645538 36645538 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000373151.2:c.2385G>C p.Gln795His p.Q795H ENST00000373151 NM_018067.3 795 caG/caC 0 Missense_Mutation G 35 MAP7D1 SNP 1 G C 36418125 36418125 Broad PRKAA2 5563 broad.mit.edu GRCh37 1 57140178 57140178 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000371244.4:c.219T>A p.His73Gln p.H73Q ENST00000371244 NM_006252.3 73 caT/caA 0 Missense_Mutation T 50 PRKAA2 SNP 1 T A 56912766 56912766 Broad BTBD8 284697 broad.mit.edu GRCh37 1 92568090 92568090 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000342818.3:c.408G>T p.Lys136Asn p.K136N ENST00000342818 NM_183242.3 136 aaG/aaT 0 Missense_Mutation G 33 BTBD8 SNP 1 G T 92340678 92340678 Broad LRIG2 9860 broad.mit.edu GRCh37 1 113666711 113666711 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000361127.5:c.3186T>G p.Ser1062Arg p.S1062R ENST00000361127 NM_014813.1 1062 agT/agG 0 Missense_Mutation T 59 LRIG2 SNP 1 T G 113468234 113468234 Broad SLC22A15 55356 broad.mit.edu GRCh37 1 116562225 116562225 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000369503.4:c.323C>A p.Ser108Tyr p.S108Y ENST00000369503 NM_018420.2 108 tCc/tAc 0 Missense_Mutation C 30 SLC22A15 SNP 1 C A 116363748 116363748 Broad RNF115 27246 broad.mit.edu GRCh37 1 145682046 145682046 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000369291.5:c.452G>A p.Gly151Glu p.G151E ENST00000369291 NM_014455.3 151 gGa/gAa 0 Missense_Mutation G 41 RNF115 SNP 1 G A 144393403 144393403 Broad SPRR2E 6704 broad.mit.edu GRCh37 1 153066108 153066108 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000368751.1:c.120G>A p.Lys40= p.K40= ENST00000368751 40 aaG/aaA 0 Silent C 20 SPRR2E SNP 1 C T 151332732 151332732 Broad ISG20L2 81875 broad.mit.edu GRCh37 1 156693229 156693229 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000313146.6:c.974T>C p.Val325Ala p.V325A ENST00000313146 NM_030980.1 325 gTg/gCg 0 Missense_Mutation A 6 ISG20L2 SNP 1 A G 154959853 154959853 Broad UCHL5 51377 broad.mit.edu GRCh37 1 193018899 193018899 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000367455.4:c.223G>C p.Asp75His p.D75H ENST00000367455 NM_015984.3 75 Gac/Cac 0 Missense_Mutation C 29 UCHL5 SNP 1 C G 191285522 191285522 Broad USH2A 7399 broad.mit.edu GRCh37 1 216052179 216052179 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000307340.3:c.8485G>T p.Val2829Leu p.V2829L ENST00000307340 NM_206933.2 2829 Gtg/Ttg 0 Missense_Mutation C 17 USH2A SNP 1 C A 214118802 214118802 Broad PRTFDC1 56952 broad.mit.edu GRCh37 10 25160959 25160959 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000320152.6:c.373G>A p.Gly125Arg p.G125R ENST00000320152 NM_020200.5 125 Gga/Aga 0 Missense_Mutation C 23 PRTFDC1 SNP 10 C T 25200965 25200965 Broad ANKRD30A 91074 broad.mit.edu GRCh37 10 37430846 37430846 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000361713.1:c.853T>A p.Cys285Ser p.C285S ENST00000361713 NM_052997.2 285 Tgt/Agt 0 Missense_Mutation T 51 ANKRD30A SNP 10 T A 37470852 37470852 Broad SLC18A3 6572 broad.mit.edu GRCh37 10 50820329 50820329 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000374115.3:c.1543C>G p.Pro515Ala p.P515A ENST00000374115 NM_003055.2 515 Cct/Gct 0 Missense_Mutation C 26 SLC18A3 SNP 10 C G 50490335 50490335 Broad MYOZ1 58529 broad.mit.edu GRCh37 10 75393678 75393678 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000359322.4:c.648C>A p.Pro216= p.P216= ENST00000359322 NM_021245.3 216 ccC/ccA 0 Silent G 47 MYOZ1 SNP 10 G T 75063684 75063684 Broad ELOVL3 83401 broad.mit.edu GRCh37 10 103988950 103988950 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000370005.3:c.754C>A p.His252Asn p.H252N ENST00000370005 NM_152310.1 252 Cac/Aac 0 Missense_Mutation C 21 ELOVL3 SNP 10 C A 103978940 103978940 Broad FRG2B 441581 broad.mit.edu GRCh37 10 135438800 135438800 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000425520.1:c.640C>T p.Arg214Trp p.R214W ENST00000425520 NM_001080998.1 214 Cgg/Tgg 0 Missense_Mutation G 39 FRG2B SNP 10 G A 135288790 135288790 Broad DCHS1 8642 broad.mit.edu GRCh37 11 6652957 6652957 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000299441.3:c.3565C>A p.Pro1189Thr p.P1189T ENST00000299441 NM_003737.2 1189 Cca/Aca 0 Missense_Mutation G 43 DCHS1 SNP 11 G T 6609533 6609533 Broad DDB2 1643 broad.mit.edu GRCh37 11 47256952 47256952 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000256996.4:c.1012A>C p.Thr338Pro p.T338P ENST00000256996 NM_000107.2 338 Aca/Cca 0 Missense_Mutation A 6 DDB2 SNP 11 A C 47213528 47213528 Broad LRP5 4041 broad.mit.edu GRCh37 11 68192614 68192614 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000294304.7:c.3281A>G p.Glu1094Gly p.E1094G ENST00000294304 NM_002335.2 1094 gAa/gGa 0 Missense_Mutation A 9 LRP5 SNP 11 A G 67949190 67949190 Broad VWF 7450 broad.mit.edu GRCh37 12 6184517 6184517 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000261405.5:c.858C>T p.Thr286= p.T286= ENST00000261405 NM_000552.3 286 acC/acT 0 Silent G 39 VWF SNP 12 G A 6054778 6054778 Broad KRT6C 286887 broad.mit.edu GRCh37 12 52863578 52863578 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000252250.6:c.1300C>T p.Leu434= p.L434= ENST00000252250 NM_173086.4 434 Ctg/Ttg 0 Silent G 35 KRT6C SNP 12 G A 51149845 51149845 Broad C12orf66 144577 broad.mit.edu GRCh37 12 64609703 64609703 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000398055.3:c.276C>T p.Thr92= p.T92= ENST00000398055 NM_152440.4 92 acC/acT 0 Silent G 47 C12orf66 SNP 12 G A 62895970 62895970 Broad SACS 26278 broad.mit.edu GRCh37 13 23912946 23912946 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000382298.3:c.5069T>A p.Val1690Glu p.V1690E ENST00000382298 NM_014363.5 1690 gTa/gAa 0 Missense_Mutation A 14 SACS SNP 13 A T 22810946 22810946 Broad ATP8A2 51761 broad.mit.edu GRCh37 13 26144928 26144928 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000381655.2:c.1497G>T p.Glu499Asp p.E499D ENST00000381655 NM_016529.4 499 gaG/gaT 0 Missense_Mutation G 36 ATP8A2 SNP 13 G T 25042928 25042928 Broad INTS6 26512 broad.mit.edu GRCh37 13 51948392 51948392 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000311234.4:c.2056A>G p.Thr686Ala p.T686A ENST00000311234 NM_012141.2 686 Aca/Gca 0 Missense_Mutation T 57 INTS6 SNP 13 T C 50846393 50846393 Broad GRK1 6011 broad.mit.edu GRCh37 13 114324122 114324122 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000335678.6:c.820G>T p.Asp274Tyr p.D274Y ENST00000335678 NM_002929.2 274 Gac/Tac 0 Missense_Mutation G 45 GRK1 SNP 13 G T 113372123 113372123 Broad LRRC16B 90668 broad.mit.edu GRCh37 14 24531755 24531755 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000342740.5:c.2547C>G p.Leu849= p.L849= ENST00000342740 NM_138360.3 849 ctC/ctG 0 Silent C 32 LRRC16B SNP 14 C G 23601595 23601595 Broad PCNXL4 64430 broad.mit.edu GRCh37 14 60591812 60591812 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000317623.4:c.2221G>C p.Val741Leu p.V741L ENST00000317623 NM_022495.5 741 Gta/Cta 0 Missense_Mutation G 36 C14orf135 SNP 14 G C 59661565 59661565 Broad SPTB 6710 broad.mit.edu GRCh37 14 65260199 65260199 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000389722.3:c.2182C>G p.Leu728Val p.L728V ENST00000389722 NM_001024858.2 728 Ctg/Gtg 0 Missense_Mutation G 34 SPTB SNP 14 G C 64329952 64329952 Broad PTPN21 11099 broad.mit.edu GRCh37 14 88936359 88936359 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000556564.1:c.2907C>G p.Ala969= p.A969= ENST00000556564 NM_007039.3 969 gcC/gcG 0 Silent G 47 PTPN21 SNP 14 G C 88006112 88006112 Broad IGDCC4 57722 broad.mit.edu GRCh37 15 65702612 65702612 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000352385.2:c.467A>T p.Glu156Val p.E156V ENST00000352385 NM_020962.1 156 gAg/gTg 0 Missense_Mutation T 54 IGDCC4 SNP 15 T A 63489665 63489665 Broad CERS3 204219 broad.mit.edu GRCh37 15 101024822 101024822 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000284382.4:c.340G>T p.Glu114Ter p.E114* ENST00000284382 NM_178842.3 114 Gaa/Taa 0 Nonsense_Mutation C 30 LASS3 SNP 15 C A 98842345 98842345 Broad C16orf11 146325 broad.mit.edu GRCh37 16 613412 613413 + missense_variant Missense_Mutation DNP TT TT CC novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000409413.3:c.118_119delinsCC p.Phe40Pro p.F40P ENST00000409413 NM_145270.2 40 TTc/CCc 0 Missense_Mutation TT 56 C16orf11 DNP 16 TT CC 553414 553413 Broad ZG16B 124220 broad.mit.edu GRCh37 16 2881990 2881990 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000382280.3:c.457T>C p.Ser153Pro p.S153P ENST00000382280 NM_145252.2 153 Tcc/Ccc 0 Missense_Mutation T 54 ZG16B SNP 16 T C 2821991 2821991 Broad MMP2 4313 broad.mit.edu GRCh37 16 55525730 55525730 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000219070.4:c.1198G>C p.Val400Leu p.V400L ENST00000219070 NM_004530.4 400 Gtg/Ctg 0 Missense_Mutation G 40 MMP2 SNP 16 G C 54083231 54083231 Broad MMP15 4324 broad.mit.edu GRCh37 16 58077230 58077230 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000219271.3:c.1420C>T p.Pro474Ser p.P474S ENST00000219271 NM_002428.2 474 Ccc/Tcc 0 Missense_Mutation C 26 MMP15 SNP 16 C T 56634731 56634731 Broad RLTPR 146206 broad.mit.edu GRCh37 16 67682009 67682009 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000334583.6:c.1126G>C p.Gly376Arg p.G376R ENST00000334583 NM_001013838.1 376 Ggc/Cgc 0 Missense_Mutation G 35 RLTPR SNP 16 G C 66239510 66239510 Broad CA5A 763 broad.mit.edu GRCh37 16 87925429 87925429 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000309893.2:c.750G>T p.Glu250Asp p.E250D ENST00000309893 NM_001739.1 250 gaG/gaT 0 Missense_Mutation C 28 CA5A SNP 16 C A 86482930 86482930 Broad UNC45B 146862 broad.mit.edu GRCh37 17 33482456 33482456 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000268876.5:c.781C>A p.Arg261= p.R261= ENST00000268876 NM_173167.2 261 Cga/Aga 0 Silent C 31 UNC45B SNP 17 C A 30506569 30506569 Broad UNC45B 146862 broad.mit.edu GRCh37 17 33513323 33513323 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000268876.5:c.2541C>A p.Thr847= p.T847= ENST00000268876 NM_173167.2 847 acC/acA 0 Silent C 22 UNC45B SNP 17 C A 30537436 30537436 Broad DGKE 8526 broad.mit.edu GRCh37 17 54912222 54912222 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000284061.3:c.66G>C p.Leu22= p.L22= ENST00000284061 NM_003647.2 22 ctG/ctC 0 Silent G 45 DGKE SNP 17 G C 52267221 52267221 Broad MGAT5B 146664 broad.mit.edu GRCh37 17 74878254 74878254 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000428789.2:c.236G>A p.Arg79His p.R79H ENST00000428789 NM_198955.1 79 cGc/cAc 0 Missense_Mutation G 38 MGAT5B SNP 17 G A 72389849 72389849 Broad USP14 9097 broad.mit.edu GRCh37 18 198094 198094 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000261601.7:c.723T>G p.Ser241Arg p.S241R ENST00000261601 NM_005151.3 241 agT/agG 0 Missense_Mutation T 60 USP14 SNP 18 T G 188094 188094 Broad CEP192 55125 broad.mit.edu GRCh37 18 13056284 13056284 + missense_variant Missense_Mutation SNP C C G rs73950982 Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000506447.1:c.3695C>G p.Thr1232Arg p.T1232R ENST00000506447 NM_032142.3 1232 aCa/aGa 0 Missense_Mutation C 17 CEP192 SNP 18 C G 13046284 13046284 Broad CCBE1 147372 broad.mit.edu GRCh37 18 57107037 57107037 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000439986.4:c.787C>A p.Pro263Thr p.P263T ENST00000439986 NM_133459.3 263 Cca/Aca 0 Missense_Mutation G 44 CCBE1 SNP 18 G T 55258017 55258017 Broad SERPINB5 5268 broad.mit.edu GRCh37 18 61170746 61170746 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 A T A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000382771.4:c.919A>T p.Met307Leu p.M307L ENST00000382771 NM_002639.4 307 Atg/Ttg 0 Missense_Mutation A 4 SERPINB5 SNP 18 A T 59321726 59321726 Broad CD97 976 broad.mit.edu GRCh37 19 14508896 14508896 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000242786.5:c.842A>T p.Lys281Ile p.K281I ENST00000242786 NM_078481.3 281 aAa/aTa 0 Missense_Mutation A 1 CD97 SNP 19 A T 14369896 14369896 Broad EHD2 30846 broad.mit.edu GRCh37 19 48219981 48219981 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000263277.3:c.112G>T p.Glu38Ter p.E38* ENST00000263277 NM_014601.3 38 Gag/Tag 0 Nonsense_Mutation G 41 EHD2 SNP 19 G T 52911793 52911793 Broad AP2A1 160 broad.mit.edu GRCh37 19 50295254 50295254 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000359032.5:c.536C>T p.Ser179Leu p.S179L ENST00000359032 NM_014203.2 179 tCg/tTg 0 Missense_Mutation C 31 AP2A1 SNP 19 C T 54987066 54987066 Broad FPR2 2358 broad.mit.edu GRCh37 19 52272397 52272397 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000598776.1:c.486C>G p.Leu162= p.L162= ENST00000598776 NM_001462.3 162 ctC/ctG 0 Silent C 32 FPR2 SNP 19 C G 56964209 56964209 Broad MEMO1 51072 broad.mit.edu GRCh37 2 32143001 32143001 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000295065.5:c.431T>A p.Met144Lys p.M144K ENST00000295065 NM_015955.2 144 aTg/aAg 0 Missense_Mutation A 8 MEMO1 SNP 2 A T 31996505 31996505 Broad CLEC4F 165530 broad.mit.edu GRCh37 2 71044223 71044223 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000272367.2:c.290A>G p.Glu97Gly p.E97G ENST00000272367 NM_001258027.1 97 gAg/gGg 0 Missense_Mutation T 54 CLEC4F SNP 2 T C 70897731 70897731 Broad SNRNP200 23020 broad.mit.edu GRCh37 2 96957181 96957181 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000323853.5:c.2370C>A p.Thr790= p.T790= ENST00000323853 NM_014014.4 790 acC/acA 0 Silent G 47 SNRNP200 SNP 2 G T 96320908 96320908 Broad PTPN18 26469 broad.mit.edu GRCh37 2 131126721 131126721 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000175756.5:c.430T>C p.Tyr144His p.Y144H ENST00000175756 NM_014369.3 144 Tac/Cac 0 Missense_Mutation T 57 PTPN18 SNP 2 T C 130843191 130843191 Broad ARHGEF4 50649 broad.mit.edu GRCh37 2 131785570 131785570 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000326016.5:c.480C>A p.Ser160Arg p.S160R ENST00000326016 NM_015320.3 160 agC/agA 0 Missense_Mutation C 27 ARHGEF4 SNP 2 C A 131502040 131502040 Broad ACVR1 90 broad.mit.edu GRCh37 2 158636974 158636974 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000263640.3:c.206G>T p.Gly69Val p.G69V ENST00000263640 NM_001105.4 69 gGc/gTc 0 Missense_Mutation C 26 ACVR1 SNP 2 C A 158345220 158345220 Broad KCNH7 90134 broad.mit.edu GRCh37 2 163253380 163253380 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000332142.5:c.2483T>A p.Leu828His p.L828H ENST00000332142 NM_033272.3 828 cTc/cAc 0 Missense_Mutation A 11 KCNH7 SNP 2 A T 162961626 162961626 Broad SCN9A 6335 broad.mit.edu GRCh37 2 167149753 167149753 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000409672.1:c.1095C>G p.Asn365Lys p.N365K ENST00000409672 NM_002977.3 365 aaC/aaG 0 Missense_Mutation G 44 SCN9A SNP 2 G C 166857999 166857999 Broad TTN 7273 broad.mit.edu GRCh37 2 179576748 179576748 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000589042.1:c.27809A>G p.Asn9270Ser p.N9270S ENST00000589042 NM_001267550.1 9270 aAt/aGt 0 Missense_Mutation T 52 TTN SNP 2 T C 179284993 179284993 Broad PPP1R7 5510 broad.mit.edu GRCh37 2 242105809 242105809 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000234038.6:c.772T>C p.Tyr258His p.Y258H ENST00000234038 NM_002712.1 258 Tac/Cac 0 Missense_Mutation T 57 PPP1R7 SNP 2 T C 241754482 241754482 Broad SIGLEC1 6614 broad.mit.edu GRCh37 20 3672593 3672593 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000344754.4:c.4287C>T p.Asn1429= p.N1429= ENST00000344754 NM_023068.3 1429 aaC/aaT 0 Silent G 36 SIGLEC1 SNP 20 G A 3620593 3620593 Broad SIGLEC1 6614 broad.mit.edu GRCh37 20 3674093 3674093 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000344754.4:c.3508+1G>T p.X1170_splice ENST00000344754 NM_023068.3 0 Splice_Site_SNP C 17 SIGLEC1 SNP 20 C A 3622093 3622093 Broad ZNF133 7692 broad.mit.edu GRCh37 20 18297068 18297068 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000377671.3:c.1570C>A p.Arg524= p.R524= ENST00000377671 NM_003434.4 524 Cga/Aga 0 Silent C 23 ZNF133 SNP 20 C A 18245068 18245068 Broad MYH7B 57644 broad.mit.edu GRCh37 20 33585285 33585285 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000262873.7:c.3715G>C p.Ala1239Pro p.A1239P ENST00000262873 NM_020884.3 1239 Gcg/Ccg 0 Missense_Mutation G 42 MYH7B SNP 20 G C 33048946 33048946 Broad NCOA3 8202 broad.mit.edu GRCh37 20 46264826 46264826 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000371998.3:c.1696G>T p.Asp566Tyr p.D566Y ENST00000371998 566 Gat/Tat 0 Missense_Mutation G 41 NCOA3 SNP 20 G T 45698233 45698233 Broad IL17RA 23765 broad.mit.edu GRCh37 22 17589845 17589845 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000319363.6:c.1736T>G p.Val579Gly p.V579G ENST00000319363 NM_014339.6 579 gTc/gGc 0 Missense_Mutation T 58 IL17RA SNP 22 T G 15969845 15969845 Broad MYO18B 84700 broad.mit.edu GRCh37 22 26176162 26176162 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000335473.7:c.2208C>T p.Leu736= p.L736= ENST00000335473 NM_032608.5 736 ctC/ctT 0 Silent C 30 MYO18B SNP 22 C T 24506162 24506162 Broad TTLL8 164714 broad.mit.edu GRCh37 22 50471792 50471792 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000433387.1:c.1170G>T p.Val390= p.V390= ENST00000433387 390 gtG/gtT 0 Silent C 21 TTLL8 SNP 22 C A 48813919 48813919 Broad C3orf20 84077 broad.mit.edu GRCh37 3 14724304 14724304 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000253697.3:c.84C>A p.Leu28= p.L28= ENST00000253697 NM_032137.4 28 ctC/ctA 0 Silent C 30 C3orf20 SNP 3 C A 14699308 14699308 Broad SHQ1 55164 broad.mit.edu GRCh37 3 72881527 72881527 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000325599.8:c.592C>A p.His198Asn p.H198N ENST00000325599 NM_018130.2 198 Cat/Aat 0 Missense_Mutation G 45 SHQ1 SNP 3 G T 72964217 72964217 Broad FRG2C 100288801 broad.mit.edu GRCh37 3 75714986 75714986 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000308062.3:c.643C>T p.Arg215Trp p.R215W ENST00000308062 NM_001124759.1 215 Cgg/Tgg 0 Missense_Mutation C 23 FRG2C SNP 3 C T 75797676 75797676 Broad BCHE 590 broad.mit.edu GRCh37 3 165547890 165547890 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264381.3:c.932G>T p.Gly311Val p.G311V ENST00000264381 NM_000055.2 311 gGg/gTg 0 Missense_Mutation C 22 BCHE SNP 3 C A 167030584 167030584 Broad CPN2 1370 broad.mit.edu GRCh37 3 194062783 194062783 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000323830.3:c.649G>T p.Gly217Cys p.G217C ENST00000323830 NM_001080513.2 217 Ggc/Tgc 0 Missense_Mutation C 22 CPN2 SNP 3 C A 195544478 195544478 Broad PIGZ 80235 broad.mit.edu GRCh37 3 196678888 196678888 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000412723.1:c.15A>T p.Gly5= p.G5= ENST00000412723 NM_025163.3 5 ggA/ggT 0 Silent T 50 PIGZ SNP 3 T A 198163285 198163285 Broad ATP10D 57205 broad.mit.edu GRCh37 4 47559958 47559958 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000273859.3:c.2102A>T p.Asp701Val p.D701V ENST00000273859 NM_020453.3 701 gAt/gTt 0 Missense_Mutation A 12 ATP10D SNP 4 A T 47254715 47254715 Broad PPEF2 5470 broad.mit.edu GRCh37 4 76797629 76797629 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000286719.7:c.1131C>A p.Cys377Ter p.C377* ENST00000286719 NM_006239.2 377 tgC/tgA 0 Nonsense_Mutation G 46 PPEF2 SNP 4 G T 77016653 77016653 Broad BMP3 651 broad.mit.edu GRCh37 4 81967153 81967153 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000282701.2:c.578A>G p.Asp193Gly p.D193G ENST00000282701 NM_001201.2 193 gAt/gGt 0 Missense_Mutation A 12 BMP3 SNP 4 A G 82186177 82186177 Broad MMRN1 22915 broad.mit.edu GRCh37 4 90816312 90816312 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000394980.1:c.190G>T p.Glu64Ter p.E64* ENST00000394980 64 Gag/Tag 0 Nonsense_Mutation G 41 MMRN1 SNP 4 G T 91035335 91035335 Broad MMRN1 22915 broad.mit.edu GRCh37 4 90874314 90874314 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000394980.1:c.3432A>G p.Val1144= p.V1144= ENST00000394980 1144 gtA/gtG 0 Silent A 16 MMRN1 SNP 4 A G 91093337 91093337 Broad TNIP3 79931 broad.mit.edu GRCh37 4 122068296 122068296 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000509841.1:c.874C>T p.Arg292Ter p.R292* ENST00000509841 NM_001244764.1 292 Cga/Tga 0 Nonsense_Mutation G 40 TNIP3 SNP 4 G A 122287746 122287746 Broad FHDC1 85462 broad.mit.edu GRCh37 4 153875436 153875436 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000511601.1:c.628C>G p.Arg210Gly p.R210G ENST00000511601 210 Cga/Gga 0 Missense_Mutation C 27 FHDC1 SNP 4 C G 154094886 154094886 Broad CPE 1363 broad.mit.edu GRCh37 4 166405679 166405679 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000402744.4:c.896C>A p.Pro299Gln p.P299Q ENST00000402744 NM_001873.2 299 cCa/cAa 0 Missense_Mutation C 21 CPE SNP 4 C A 166625129 166625129 Broad SEMA5A 9037 broad.mit.edu GRCh37 5 9224934 9224934 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000382496.5:c.498G>A p.Gln166= p.Q166= ENST00000382496 NM_003966.2 166 caG/caA 0 Silent C 28 SEMA5A SNP 5 C T 9277934 9277934 Broad DNAH5 1767 broad.mit.edu GRCh37 5 13769114 13769114 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000265104.4:c.9852G>T p.Leu3284= p.L3284= ENST00000265104 NM_001369.2 3284 ctG/ctT 0 Silent C 21 DNAH5 SNP 5 C A 13822114 13822114 Broad DNAH5 1767 broad.mit.edu GRCh37 5 13769233 13769233 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000265104.4:c.9733G>A p.Val3245Met p.V3245M ENST00000265104 NM_001369.2 3245 Gtg/Atg 0 Missense_Mutation C 20 DNAH5 SNP 5 C T 13822233 13822233 Broad JAKMIP2 9832 broad.mit.edu GRCh37 5 147051268 147051268 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000265272.5:c.102G>C p.Gln34His p.Q34H ENST00000265272 NM_014790.4 34 caG/caC 0 Missense_Mutation C 32 JAKMIP2 SNP 5 C G 147031461 147031461 Broad USP49 25862 broad.mit.edu GRCh37 6 41771619 41771619 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000373006.1:c.1486C>T p.Leu496Phe p.L496F ENST00000373006 NM_018561.3 496 Ctc/Ttc 0 Missense_Mutation G 34 USP49 SNP 6 G A 41879597 41879597 Broad SUPT3H 8464 broad.mit.edu GRCh37 6 44971495 44971495 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000371460.1:c.432A>G p.Arg144= p.R144= ENST00000371460 NM_181356.2 144 agA/agG 0 Silent T 58 SUPT3H SNP 6 T C 45079473 45079473 Broad GRIK2 2898 broad.mit.edu GRCh37 6 102266271 102266271 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000421544.1:c.1230C>G p.Gly410= p.G410= ENST00000421544 NM_021956.4 410 ggC/ggG 0 Silent C 26 GRIK2 SNP 6 C G 102372964 102372964 Broad SAMD3 154075 broad.mit.edu GRCh37 6 130476163 130476163 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000368134.2:c.830C>T p.Ala277Val p.A277V ENST00000368134 NM_001258275.1 277 gCt/gTt 0 Missense_Mutation G 34 SAMD3 SNP 6 G A 130517856 130517856 Broad IYD 389434 broad.mit.edu GRCh37 6 150690326 150690326 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000229447.5:c.159C>A p.Asp53Glu p.D53E ENST00000229447 NM_001164694.1 53 gaC/gaA 0 Missense_Mutation C 18 IYD SNP 6 C A 150732019 150732019 Broad KIF25 3834 broad.mit.edu GRCh37 6 168430274 168430274 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000443060.2:c.9G>T p.Trp3Cys p.W3C ENST00000443060 3 tgG/tgT 0 Missense_Mutation G 41 KIF25 SNP 6 G T 168173123 168173123 Broad DAGLB 221955 broad.mit.edu GRCh37 7 6449759 6449759 + splice_donor_variant Splice_Site SNP A A G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000297056.6:c.1820+2T>C p.X607_splice ENST00000297056 NM_139179.3 0 Splice_Site_SNP A 6 DAGLB SNP 7 A G 6416284 6416284 Broad HECW1 23072 broad.mit.edu GRCh37 7 43495970 43495970 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000395891.2:c.2575C>G p.Arg859Gly p.R859G ENST00000395891 NM_015052.3 859 Cgt/Ggt 0 Missense_Mutation C 27 HECW1 SNP 7 C G 43462495 43462495 Broad BUD31 8896 broad.mit.edu GRCh37 7 99008722 99008722 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000403633.2:c.7A>G p.Lys3Glu p.K3E ENST00000403633 3 Aaa/Gaa 0 Missense_Mutation A 13 BUD31 SNP 7 A G 98846658 98846658 Broad MUC17 140453 broad.mit.edu GRCh37 7 100682335 100682335 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000306151.4:c.7638G>A p.Val2546= p.V2546= ENST00000306151 NM_001040105.1 2546 gtG/gtA 0 Silent G 47 MUC17 SNP 7 G A 100469055 100469055 Broad COL26A1 136227 broad.mit.edu GRCh37 7 101006394 101006394 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000313669.7:c.81C>T p.Phe27= p.F27= ENST00000313669 NM_001278563.1 27 ttC/ttT 0 Silent C 32 EMID2 SNP 7 C T 100793114 100793114 Broad RELN 5649 broad.mit.edu GRCh37 7 103124237 103124237 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000428762.1:c.10044C>G p.Asp3348Glu p.D3348E ENST00000428762 NM_005045.3 3348 gaC/gaG 0 Missense_Mutation G 44 RELN SNP 7 G C 102911473 102911473 Broad KCND2 3751 broad.mit.edu GRCh37 7 119915388 119915388 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000331113.4:c.702G>T p.Thr234= p.T234= ENST00000331113 NM_012281.2 234 acG/acT 0 Silent G 39 KCND2 SNP 7 G T 119702624 119702624 Broad PRAG1 157285 broad.mit.edu GRCh37 8 8197043 8197043 + synonymous_variant Silent SNP G G A rs56187292 Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000520004.1:c.2265C>T p.Thr755= p.T755= ENST00000520004 755 acC/acT 0 Silent G 39 PRAGMIN SNP 8 G A 8234453 8234453 Broad KAT6A 7994 broad.mit.edu GRCh37 8 41832337 41832337 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000396930.3:c.1367A>G p.Asn456Ser p.N456S ENST00000396930 NM_001099412.1 456 aAt/aGt 0 Missense_Mutation T 52 MYST3 SNP 8 T C 41951494 41951494 Broad CNBD1 168975 broad.mit.edu GRCh37 8 88365998 88365998 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000518476.1:c.1287A>G p.Glu429= p.E429= ENST00000518476 NM_173538.2 429 gaA/gaG 0 Silent A 3 CNBD1 SNP 8 A G 88435114 88435114 Broad BAI1 575 broad.mit.edu GRCh37 8 143624769 143624769 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000517894.1:c.4419G>T p.Arg1473= p.R1473= ENST00000517894 1473 cgG/cgT 0 Silent G 41 BAI1 SNP 8 G T 143621771 143621771 Broad FANCG 2189 broad.mit.edu GRCh37 9 35076001 35076001 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000378643.3:c.1101C>T p.Tyr367= p.Y367= ENST00000378643 NM_004629.1 367 taC/taT 0 Silent G 36 FANCG SNP 9 G A 35066001 35066001 Broad TLN1 7094 broad.mit.edu GRCh37 9 35724624 35724624 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000314888.9:c.456G>T p.Leu152= p.L152= ENST00000314888 NM_006289.3 152 ctG/ctT 0 Silent C 25 TLN1 SNP 9 C A 35714624 35714624 Broad TMEM2 23670 broad.mit.edu GRCh37 9 74305103 74305103 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000377044.4:c.3756G>A p.Pro1252= p.P1252= ENST00000377044 NM_013390.2 1252 ccG/ccA 0 Silent C 19 TMEM2 SNP 9 C T 73494923 73494923 Broad PRUNE2 158471 broad.mit.edu GRCh37 9 79321991 79321991 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000376718.3:c.5199G>C p.Lys1733Asn p.K1733N ENST00000376718 NM_015225.2 1733 aaG/aaC 0 Missense_Mutation C 20 PRUNE2 SNP 9 C G 78511811 78511811 Broad HDAC6 10013 broad.mit.edu GRCh37 X 48664776 48664776 + splice_region_variant,synonymous_variant Splice_Region SNP C C T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000334136.5:c.439C>T p.Leu147= p.L147= ENST00000334136 147 Cta/Tta 0 Silent C 24 HDAC6 SNP 23 C T 48549720 48549720 Broad HDAC6 10013 broad.mit.edu GRCh37 X 48674576 48674576 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000334136.5:c.1522T>C p.Leu508= p.L508= ENST00000334136 508 Ttg/Ctg 0 Silent T 56 HDAC6 SNP 23 T C 48559520 48559520 Broad STARD8 9754 broad.mit.edu GRCh37 X 67938364 67938364 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000374599.3:c.1608C>A p.Asn536Lys p.N536K ENST00000374599 NM_001142503.2 536 aaC/aaA 0 Missense_Mutation C 20 STARD8 SNP 23 C A 67855089 67855089 Broad RLIM 51132 broad.mit.edu GRCh37 X 73812800 73812800 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown x x x ENST00000332687.6:c.350G>T p.Arg117Ile p.R117I ENST00000332687 NM_016120.3 117 aGa/aTa 0 Missense_Mutation C 32 RLIM SNP 23 C A 73729525 73729525 Broad TENM1 10178 broad.mit.edu GRCh37 X 123517987 123517987 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000422452.2:c.6794C>T p.Ala2265Val p.A2265V ENST00000422452 NM_001163279.1 2265 gCg/gTg 0 Missense_Mutation G 38 ODZ1 SNP 23 G A 123345668 123345668 Broad GPR112 139378 broad.mit.edu GRCh37 X 135427478 135427478 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000394143.1:c.1613C>G p.Pro538Arg p.P538R ENST00000394143 NM_153834.3 538 cCc/cGc 0 Missense_Mutation C 22 GPR112 SNP 23 C G 135255144 135255144 Broad TP53 7157 broad.mit.edu GRCh37 17 7577102 7577102 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.836G>A p.Gly279Glu p.G279E ENST00000269305 NM_001126112.2 279 gGg/gAg 0 Missense_Mutation C 22 TP53 SNP 17 C T 7517827 7517827 Broad KRT77 374454 broad.mit.edu GRCh37 12 53086340 53086347 + frameshift_variant Frame_Shift_Del DEL AGGTCCTG AGGTCCTG - novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000341809.3:c.1285_1292del p.Gln429GlyfsTer17 p.Q429Gfs*17 ENST00000341809 NM_175078.2 429 CAGGACCTg/g 0 Frame_Shift_Del AGGTCCTG 7 KRT77 DEL 12 - AGGTCCTG 51372614 51372607 Broad HNF1B 6928 broad.mit.edu GRCh37 17 36070539 36070549 + frameshift_variant Frame_Shift_Del DEL TGGCCTGGGTC TGGCCTGGGTC - novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 - - TGGCCTGGGTC TGGCCTGGGTC Unknown Valid Somatic Phase_I Capture Illumina GAIIx ENST00000225893.4:c.1168_1178del p.Asp390GlnfsTer6 p.D390Qfs*6 ENST00000225893 NM_001165923.1 390 GACCCAGGCCAc/c 0 Frame_Shift_Del TGGCCTGGGTC 59 HNF1B DEL 17 - - 33144662 33144652 Broad PPP5C 5536 broad.mit.edu GRCh37 19 46850392 46850393 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-13-0904-01 TCGA-13-0904-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000012443.4:c.46dup p.Arg16ProfsTer7 p.R16Pfs*7 ENST00000012443 NM_006247.3 13 -/C 0 Frame_Shift_Ins - 34 PPP5C INS 19 C - 51542233 51542232 Broad ARID2 196528 hgsc.bcm.edu GRCh37 12 46244202 46244202 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000334344.6:c.2296C>T p.Pro766Ser p.P766S ENST00000334344 NM_152641.2 766 Cca/Tca 0 Missense_Mutation C 30 ARID2 SNP 12 C T 44530469 44530469 Baylor ATP13A5 344905 hgsc.bcm.edu GRCh37 3 193052730 193052730 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000342358.4:c.1102G>A p.Val368Ile p.V368I ENST00000342358 NM_198505.2 368 Gtt/Att 0 Missense_Mutation C 19 ATP13A5 SNP 3 C T 194535424 194535424 Baylor BMPR1B 658 hgsc.bcm.edu GRCh37 4 96025705 96025705 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000440890.2:c.220A>T p.Asn74Tyr p.N74Y ENST00000440890 74 Aac/Tac 0 Missense_Mutation A 5 BMPR1B SNP 4 A T 96244728 96244728 Baylor VRTN 55237 hgsc.bcm.edu GRCh37 14 74824462 74824463 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000256362.4:c.983dupG p.Val329ArgfsTer25 p.V329Rfs*25 ENST00000256362 NM_018228.2 326 cgg/cGgg 0 Frame_Shift_Ins - 23 C14orf115 INS 14 - G 73894216 73894215 Baylor SMG8 55181 hgsc.bcm.edu GRCh37 17 57290517 57290517 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000543872.2:c.2333A>C p.Asn778Thr p.N778T ENST00000543872 778 aAc/aCc 0 Missense_Mutation A 2 C17orf71 SNP 17 A C 54645299 54645299 Baylor CAMKK1 84254 hgsc.bcm.edu GRCh37 17 3787704 3787704 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000158166.5:c.378C>T p.Asn126= p.N126= ENST00000158166 NM_172207.2 126 aaC/aaT 0 Silent G 44 CAMKK1 SNP 17 G A 3734453 3734453 Baylor DSEL 92126 hgsc.bcm.edu GRCh37 18 65181474 65181474 + synonymous_variant Silent SNP A A G novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000310045.7:c.402T>C p.Asn134= p.N134= ENST00000310045 NM_032160.2 134 aaT/aaC 0 Silent A 12 DSEL SNP 18 A G 63332454 63332454 Baylor GRB2 2885 hgsc.bcm.edu GRCh37 17 73389683 73389683 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000392562.1:c.27C>A p.Phe9Leu p.F9L ENST00000392562 9 ttC/ttA 0 Missense_Mutation G 45 GRB2 SNP 17 G T 70901278 70901278 Baylor GRIN2C 2905 hgsc.bcm.edu GRCh37 17 72846013 72846013 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000293190.5:c.1551C>T p.Ser517= p.S517= ENST00000293190 NM_000835.4 517 tcC/tcT 0 Silent G 39 GRIN2C SNP 17 G A 70357608 70357608 Baylor GRM1 2911 hgsc.bcm.edu GRCh37 6 146351124 146351124 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000361719.2:c.471G>A p.Ala157= p.A157= ENST00000361719 157 gcG/gcA 0 Silent G 39 GRM1 SNP 6 G A 146392817 146392817 Baylor KLHL42 57542 hgsc.bcm.edu GRCh37 12 27944691 27944691 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000381271.2:c.923G>A p.Gly308Glu p.G308E ENST00000381271 NM_020782.1 308 gGg/gAg 0 Missense_Mutation G 43 KLHDC5 SNP 12 G A 27835958 27835958 Baylor LRSAM1 90678 hgsc.bcm.edu GRCh37 9 130230081 130230081 + synonymous_variant Silent SNP T T G novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000323301.4:c.591T>G p.Thr197= p.T197= ENST00000323301 NM_138361.5 197 acT/acG 0 Silent T 55 LRSAM1 SNP 9 T G 129269902 129269902 Baylor MMEL1 79258 hgsc.bcm.edu GRCh37 1 2528036 2528036 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000378412.3:c.1365C>T p.Tyr455= p.Y455= ENST00000378412 455 taC/taT 0 Silent G 40 MMEL1 SNP 1 G A 2517896 2517896 Baylor MTHFD1 4522 hgsc.bcm.edu GRCh37 14 64886575 64886575 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000216605.8:c.659A>G p.Glu220Gly p.E220G ENST00000216605 NM_005956.3 220 gAa/gGa 0 Missense_Mutation A 9 MTHFD1 SNP 14 A G 63956328 63956328 Baylor NCAN 1463 hgsc.bcm.edu GRCh37 19 19334995 19334995 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000252575.6:c.641G>A p.Arg214His p.R214H ENST00000252575 NM_004386.2 214 cGc/cAc 0 Missense_Mutation G 38 NCAN SNP 19 G A 19195995 19195995 Baylor NWD1 284434 hgsc.bcm.edu GRCh37 19 16870240 16870240 + splice_donor_variant Splice_Site SNP G G A novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000524140.2:c.1973+1G>A p.X658_splice ENST00000524140 NM_001007525.3 0 Splice_Site_SNP G 44 NWD1 SNP 19 G A 16731240 16731240 Baylor PKHD1 5314 hgsc.bcm.edu GRCh37 6 51491869 51491869 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371117.3:c.11711A>G p.Asn3904Ser p.N3904S ENST00000371117 NM_138694.3 3904 aAt/aGt 0 Missense_Mutation T 52 PKHD1 SNP 6 T C 51599828 51599828 Baylor RAB37 326624 hgsc.bcm.edu GRCh37 17 72736931 72736931 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000392614.4:c.133G>A p.Val45Ile p.V45I ENST00000392614 NM_001163989.1 45 Gtc/Atc 0 Missense_Mutation G 40 RAB37 SNP 17 G A 70248526 70248526 Baylor ROR1 4919 hgsc.bcm.edu GRCh37 1 64608196 64608196 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000371079.1:c.1037C>G p.Thr346Ser p.T346S ENST00000371079 NM_005012.3 346 aCt/aGt 0 Missense_Mutation C 20 ROR1 SNP 1 C G 64380784 64380784 Baylor SPOCK3 50859 hgsc.bcm.edu GRCh37 4 167656170 167656170 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357154.3:c.1213G>T p.Glu405Ter p.E405* ENST00000357154 NM_016950.2 405 Gaa/Taa 0 Nonsense_Mutation C 29 SPOCK3 SNP 4 C A 167892745 167892745 Baylor SYDE1 85360 hgsc.bcm.edu GRCh37 19 15222225 15222225 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000342784.2:c.1392G>A p.Leu464= p.L464= ENST00000342784 NM_033025.4 464 ctG/ctA 0 Silent G 48 SYDE1 SNP 19 G A 15083225 15083225 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7579536 7579536 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.151G>T p.Glu51Ter p.E51* ENST00000269305 NM_001126112.2 51 Gaa/Taa 0 Nonsense_Mutation C 29 TP53 SNP 17 C A 7520261 7520261 Baylor TUBA4A 7277 hgsc.bcm.edu GRCh37 2 220115939 220115939 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000248437.4:c.482A>G p.Tyr161Cys p.Y161C ENST00000248437 NM_006000.2 161 tAt/tGt 0 Missense_Mutation T 49 TUBA4A SNP 2 T C 219824183 219824183 Baylor WDR7 23335 hgsc.bcm.edu GRCh37 18 54603085 54603085 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1628-01 TCGA-25-1628-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000254442.3:c.3780G>A p.Ser1260= p.S1260= ENST00000254442 NM_015285.2 1260 tcG/tcA 0 Silent G 38 WDR7 SNP 18 G A 52754083 52754083 Baylor CASZ1 54897 broad.mit.edu GRCh37 1 10705002 10705002 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000377022.3:c.3840C>T p.Phe1280= p.F1280= ENST00000377022 NM_001079843.2 1280 ttC/ttT 0 Silent G 45 CASZ1 SNP 1 G A 10627589 10627589 Broad PLA2G2F 64600 broad.mit.edu GRCh37 1 20466009 20466009 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000375102.3:c.89G>T p.Gly30Val p.G30V ENST00000375102 NM_022819.3 30 gGg/gTg 0 Missense_Mutation G 43 PLA2G2F SNP 1 G T 20338596 20338596 Broad TARS2 80222 broad.mit.edu GRCh37 1 150471004 150471004 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000369064.3:c.1265C>T p.Ser422Phe p.S422F ENST00000369064 NM_025150.4 422 tCc/tTc 0 Missense_Mutation C 30 TARS2 SNP 1 C T 148737628 148737628 Broad OBSCN 84033 broad.mit.edu GRCh37 1 228469846 228469846 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000570156.2:c.9697G>A p.Ala3233Thr p.A3233T ENST00000570156 NM_001271223.2 3233 Gcc/Acc 0 Missense_Mutation G 46 OBSCN SNP 1 G A 226536469 226536469 Broad ANKRD30A 91074 broad.mit.edu GRCh37 10 37508587 37508587 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000361713.1:c.3779A>C p.Gln1260Pro p.Q1260P ENST00000361713 NM_052997.2 1260 cAg/cCg 0 Missense_Mutation A 7 ANKRD30A SNP 10 A C 37548593 37548593 Broad RASGEF1A 221002 broad.mit.edu GRCh37 10 43696146 43696146 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000395809.1:c.650T>C p.Val217Ala p.V217A ENST00000395809 217 gTg/gCg 0 Missense_Mutation A 6 RASGEF1A SNP 10 A G 43016152 43016152 Broad CCSER2 54462 broad.mit.edu GRCh37 10 86131680 86131680 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000224756.8:c.872A>G p.Asn291Ser p.N291S ENST00000224756 NM_018999.2 291 aAt/aGt 0 Missense_Mutation A 4 FAM190B SNP 10 A G 86121660 86121660 Broad CCDC172 374355 broad.mit.edu GRCh37 10 118101593 118101593 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000333254.3:c.328A>C p.Lys110Gln p.K110Q ENST00000333254 NM_198515.2 110 Aag/Cag 0 Missense_Mutation A 13 C10orf96 SNP 10 A C 118091583 118091583 Broad OR5F1 338674 broad.mit.edu GRCh37 11 55761776 55761776 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000278409.1:c.326C>A p.Thr109Lys p.T109K ENST00000278409 NM_003697.1 109 aCa/aAa 0 Missense_Mutation G 48 OR5F1 SNP 11 G T 55518352 55518352 Broad ZBTB3 79842 broad.mit.edu GRCh37 11 62521456 62521456 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000394807.3:c.79G>T p.Gly27Ter p.G27* ENST00000394807 NM_024784.3 27 Gga/Tga 0 Nonsense_Mutation C 21 ZBTB3 SNP 11 C A 62278032 62278032 Broad TCIRG1 10312 broad.mit.edu GRCh37 11 67812492 67812492 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000265686.3:c.1088G>T p.Arg363Leu p.R363L ENST00000265686 NM_006019.3 363 cGc/cTc 0 Missense_Mutation G 38 TCIRG1 SNP 11 G T 67569068 67569068 Broad EED 8726 broad.mit.edu GRCh37 11 85961403 85961403 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000263360.6:c.180A>G p.Pro60= p.P60= ENST00000263360 NM_003797.3 60 ccA/ccG 0 Silent A 5 EED SNP 11 A G 85639051 85639051 Broad ME3 10873 broad.mit.edu GRCh37 11 86158135 86158135 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000543262.1:c.1352C>G p.Thr451Arg p.T451R ENST00000543262 NM_001161586.1 451 aCg/aGg 0 Missense_Mutation G 40 ME3 SNP 11 G C 85835783 85835783 Broad MMP27 64066 broad.mit.edu GRCh37 11 102573489 102573489 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000260229.4:c.614G>A p.Gly205Glu p.G205E ENST00000260229 NM_022122.2 205 gGa/gAa 0 Missense_Mutation C 30 MMP27 SNP 11 C T 102078699 102078699 Broad CD4 920 broad.mit.edu GRCh37 12 6926417 6926417 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000011653.4:c.1077G>T p.Trp359Cys p.W359C ENST00000011653 NM_000616.4 359 tgG/tgT 0 Missense_Mutation G 43 CD4 SNP 12 G T 6796678 6796678 Broad PTHLH 5744 broad.mit.edu GRCh37 12 28116348 28116348 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000395872.1:c.457A>G p.Thr153Ala p.T153A ENST00000395872 NM_198965.1 153 Act/Gct 0 Missense_Mutation T 58 PTHLH SNP 12 T C 28007615 28007615 Broad PFKM 5213 broad.mit.edu GRCh37 12 48529115 48529115 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000340802.6:c.1098C>G p.Val366= p.V366= ENST00000340802 NM_001166686.1 366 gtC/gtG 0 Silent C 32 PFKM SNP 12 C G 46815382 46815382 Broad C12orf56 115749 broad.mit.edu GRCh37 12 64668743 64668743 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000333722.5:c.1042T>G p.Leu348Val p.L348V ENST00000333722 NM_001099676.2 348 Ttg/Gtg 0 Missense_Mutation A 4 C12orf56 SNP 12 A C 62955010 62955010 Broad PABPC3 5042 broad.mit.edu GRCh37 13 25670542 25670542 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000281589.3:c.206T>G p.Leu69Arg p.L69R ENST00000281589 NM_030979.2 69 cTg/cGg 0 Missense_Mutation T 55 PABPC3 SNP 13 T G 24568542 24568542 Broad HSPH1 10808 broad.mit.edu GRCh37 13 31726998 31726998 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000320027.5:c.520A>T p.Met174Leu p.M174L ENST00000320027 NM_006644.2 174 Atg/Ttg 0 Missense_Mutation T 51 HSPH1 SNP 13 T A 30624998 30624998 Broad FREM2 341640 broad.mit.edu GRCh37 13 39262554 39262554 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000280481.7:c.1073A>G p.Asn358Ser p.N358S ENST00000280481 NM_207361.4 358 aAc/aGc 0 Missense_Mutation A 2 FREM2 SNP 13 A G 38160554 38160554 Broad SCEL 8796 broad.mit.edu GRCh37 13 78176234 78176234 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000349847.3:c.952C>T p.Gln318Ter p.Q318* ENST00000349847 NM_144777.2 318 Caa/Taa 0 Nonsense_Mutation C 29 SCEL SNP 13 C T 77074235 77074235 Broad GMPR2 51292 broad.mit.edu GRCh37 14 24707478 24707478 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000420554.2:c.778G>C p.Gly260Arg p.G260R ENST00000420554 NM_016576.3 260 Ggt/Cgt 0 Missense_Mutation G 43 GMPR2 SNP 14 G C 23777318 23777318 Broad TGM1 7051 broad.mit.edu GRCh37 14 24730902 24730903 + missense_variant,splice_region_variant Missense_Mutation DNP GA GA AT novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000206765.6:c.506_507delinsAT p.Ile169Asn p.I169N ENST00000206765 NM_000359.2 169 aTC/aAT 0 Missense_Mutation GA 37 TGM1 DNP 14 GA AT 23800743 23800742 Broad XRCC3 7517 broad.mit.edu GRCh37 14 104177389 104177389 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000553264.1:c.36T>G p.Ile12Met p.I12M ENST00000553264 12 atT/atG 0 Missense_Mutation A 13 XRCC3 SNP 14 A C 103247142 103247142 Broad CPNE2 221184 broad.mit.edu GRCh37 16 57144714 57144714 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000535318.2:c.60G>C p.Gln20His p.Q20H ENST00000535318 20 caG/caC 0 Missense_Mutation G 36 CPNE2 SNP 16 G C 55702215 55702215 Broad EDC4 23644 broad.mit.edu GRCh37 16 67913022 67913022 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000358933.5:c.1450A>G p.Asn484Asp p.N484D ENST00000358933 NM_014329.4 484 Aat/Gat 0 Missense_Mutation A 1 EDC4 SNP 16 A G 66470523 66470523 Broad NFATC3 4775 broad.mit.edu GRCh37 16 68260371 68260371 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000346183.3:c.3225C>A p.Leu1075= p.L1075= ENST00000346183 NM_173165.2 1075 ctC/ctA 0 Silent C 32 NFATC3 SNP 16 C A 66817872 66817872 Broad MPP2 4355 broad.mit.edu GRCh37 17 41956733 41956733 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000269095.4:c.1392C>G p.Tyr464Ter p.Y464* ENST00000269095 NM_001278374.1 464 taC/taG 0 Nonsense_Mutation G 40 MPP2 SNP 17 G C 39312259 39312259 Broad MAPT 4137 broad.mit.edu GRCh37 17 44101372 44101372 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000344290.5:c.2166C>T p.Asp722= p.D722= ENST00000344290 NM_001123066.3 722 gaC/gaT 0 Silent C 18 MAPT SNP 17 C T 41457217 41457217 Broad TSEN54 283989 broad.mit.edu GRCh37 17 73520404 73520404 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000333213.6:c.1492G>T p.Val498Phe p.V498F ENST00000333213 NM_207346.2 498 Gtc/Ttc 0 Missense_Mutation G 48 TSEN54 SNP 17 G T 71031999 71031999 Broad DSG3 1830 broad.mit.edu GRCh37 18 29039048 29039048 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000257189.4:c.425T>C p.Ile142Thr p.I142T ENST00000257189 NM_001944.2 142 aTa/aCa 0 Missense_Mutation T 49 DSG3 SNP 18 T C 27293046 27293046 Broad LMAN1 3998 broad.mit.edu GRCh37 18 57026264 57026264 + splice_region_variant,synonymous_variant Splice_Region SNP C C A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000251047.5:c.213G>T p.Gly71= p.G71= ENST00000251047 NM_005570.3 71 ggG/ggT 0 Silent C 30 LMAN1 SNP 18 C A 55177244 55177244 Broad RFX1 5989 broad.mit.edu GRCh37 19 14079457 14079457 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000254325.4:c.1652A>C p.Asn551Thr p.N551T ENST00000254325 NM_002918.4 551 aAc/aCc 0 Missense_Mutation T 60 RFX1 SNP 19 T G 13940457 13940457 Broad KIRREL2 84063 broad.mit.edu GRCh37 19 36357222 36357222 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000360202.5:c.1955G>A p.Cys652Tyr p.C652Y ENST00000360202 NM_032123.5 652 tGc/tAc 0 Missense_Mutation G 46 KIRREL2 SNP 19 G A 41049062 41049062 Broad RYR1 6261 broad.mit.edu GRCh37 19 39063890 39063890 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000359596.3:c.14072A>T p.Glu4691Val p.E4691V ENST00000359596 4691 gAg/gTg 0 Missense_Mutation A 11 RYR1 SNP 19 A T 43755730 43755730 Broad FCGBP 8857 broad.mit.edu GRCh37 19 40368577 40368577 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000221347.6:c.12771C>T p.Asp4257= p.D4257= ENST00000221347 NM_003890.2 4257 gaC/gaT 0 Silent G 40 FCGBP SNP 19 G A 45060417 45060417 Broad POU2F2 5452 broad.mit.edu GRCh37 19 42596274 42596274 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000526816.2:c.1347C>A p.Ser449Arg p.S449R ENST00000526816 449 agC/agA 0 Missense_Mutation G 42 POU2F2 SNP 19 G T 47288114 47288114 Broad B3GALT1 8708 broad.mit.edu GRCh37 2 168725920 168725920 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000392690.3:c.371C>A p.Pro124His p.P124H ENST00000392690 124 cCt/cAt 0 Missense_Mutation C 24 B3GALT1 SNP 2 C A 168434166 168434166 Broad DOCK10 55619 broad.mit.edu GRCh37 2 225668895 225668895 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000258390.7:c.4202C>A p.Thr1401Asn p.T1401N ENST00000258390 NM_014689.2 1401 aCc/aAc 0 Missense_Mutation G 44 DOCK10 SNP 2 G T 225377139 225377139 Broad SH3BP4 23677 broad.mit.edu GRCh37 2 235951018 235951018 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000409212.1:c.1605G>A p.Gln535= p.Q535= ENST00000409212 535 caG/caA 0 Silent G 35 SH3BP4 SNP 2 G A 235615757 235615757 Broad GAS2L1 10634 broad.mit.edu GRCh37 22 29707913 29707913 + 3_prime_UTR_variant 3'UTR SNP C C A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000341313.6:c.*921C>A *307* ENST00000341313 0 Missense_Mutation C 21 GAS2L1 SNP 22 C A 28037913 28037913 Broad SI 6476 broad.mit.edu GRCh37 3 164783108 164783108 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264382.3:c.748C>T p.Arg250Cys p.R250C ENST00000264382 NM_001041.3 250 Cgt/Tgt 0 Missense_Mutation G 37 SI SNP 3 G A 166265802 166265802 Broad PELO 53918 broad.mit.edu GRCh37 5 52096309 52096309 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000274311.2:c.81G>A p.Trp27Ter p.W27* ENST00000274311 NM_015946.4 27 tgG/tgA 0 Nonsense_Mutation G 42 PELO SNP 5 G A 52132066 52132066 Broad FAM53C 51307 broad.mit.edu GRCh37 5 137682523 137682523 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000239906.5:c.1054G>A p.Val352Met p.V352M ENST00000239906 NM_016605.2 352 Gtg/Atg 0 Missense_Mutation G 44 FAM53C SNP 5 G A 137710422 137710422 Broad KDM3B 51780 broad.mit.edu GRCh37 5 137727864 137727864 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000314358.5:c.2543A>G p.Asn848Ser p.N848S ENST00000314358 NM_016604.3 848 aAt/aGt 0 Missense_Mutation A 4 KDM3B SNP 5 A G 137755763 137755763 Broad PCDH12 51294 broad.mit.edu GRCh37 5 141337204 141337204 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000231484.3:c.213G>C p.Leu71= p.L71= ENST00000231484 NM_016580.3 71 ctG/ctC 0 Silent C 25 PCDH12 SNP 5 C G 141317388 141317388 Broad GALNT10 55568 broad.mit.edu GRCh37 5 153789100 153789100 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000297107.6:c.1165-1G>T p.X389_splice ENST00000297107 NM_198321.3 0 Splice_Site_SNP G 33 GALNT10 SNP 5 G T 153769293 153769293 Broad GCM1 8521 broad.mit.edu GRCh37 6 52996804 52996804 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000259803.7:c.441+1G>T p.X147_splice ENST00000259803 NM_003643.3 0 Splice_Site_SNP C 18 GCM1 SNP 6 C A 53104763 53104763 Broad ANKRD6 22881 broad.mit.edu GRCh37 6 90326333 90326333 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000522441.1:c.671A>G p.Lys224Arg p.K224R ENST00000522441 NM_001242811.1 224 aAa/aGa 0 Missense_Mutation A 1 ANKRD6 SNP 6 A G 90383054 90383054 Broad AHI1 54806 broad.mit.edu GRCh37 6 135787489 135787489 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000367800.4:c.212T>C p.Leu71Pro p.L71P ENST00000367800 NM_001134830.1 71 cTt/cCt 0 Missense_Mutation A 3 AHI1 SNP 6 A G 135829182 135829182 Broad IPCEF1 26034 broad.mit.edu GRCh37 6 154587051 154587051 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000422970.2:c.31G>A p.Ala11Thr p.A11T ENST00000422970 NM_001130699.1 11 Gct/Act 0 Missense_Mutation C 25 IPCEF1 SNP 6 C T 154628743 154628743 Broad THSD7A 221981 broad.mit.edu GRCh37 7 11419269 11419269 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000423059.4:c.4578G>C p.Ser1526= p.S1526= ENST00000423059 NM_015204.2 1526 tcG/tcC 0 Silent C 19 THSD7A SNP 7 C G 11385794 11385794 Broad ZMIZ2 83637 broad.mit.edu GRCh37 7 44798945 44798945 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000309315.4:c.879C>T p.Pro293= p.P293= ENST00000309315 NM_031449.3 293 ccC/ccT 0 Silent C 21 ZMIZ2 SNP 7 C T 44765470 44765470 Broad SPAM1 6677 broad.mit.edu GRCh37 7 123593641 123593641 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 T G T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000340011.5:c.17T>G p.Phe6Cys p.F6C ENST00000340011 NM_003117.4 6 tTc/tGc 0 Missense_Mutation T 62 SPAM1 SNP 7 T G 123380877 123380877 Broad EPPK1 83481 broad.mit.edu GRCh37 8 144940729 144940729 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000525985.1:c.6693G>A p.Val2231= p.V2231= ENST00000525985 NM_031308.2 2231 gtG/gtA 0 Silent C 25 EPPK1 SNP 8 C T 145012717 145012717 Broad OPLAH 26873 broad.mit.edu GRCh37 8 145114849 145114849 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000426825.1:c.87C>T p.His29= p.H29= ENST00000426825 NM_017570.3 29 caC/caT 0 Silent G 40 OPLAH SNP 8 G A 145186837 145186837 Broad GPR34 2857 broad.mit.edu GRCh37 X 41555953 41555953 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000378142.4:c.1067C>G p.Thr356Ser p.T356S ENST00000378142 NM_001097579.1 356 aCt/aGt 0 Missense_Mutation C 20 GPR34 SNP 23 C G 41440897 41440897 Broad FAAH2 158584 broad.mit.edu GRCh37 X 57473468 57473468 + synonymous_variant Silent SNP C C G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000374900.4:c.1224C>G p.Ser408= p.S408= ENST00000374900 NM_174912.3 408 tcC/tcG 0 Silent C 21 FAAH2 SNP 23 C G 57490193 57490193 Broad AMER1 139285 broad.mit.edu GRCh37 X 63410216 63410216 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000330258.3:c.2951C>G p.Ser984Cys p.S984C ENST00000330258 NM_152424.3 984 tCc/tGc 0 Missense_Mutation G 41 FAM123B SNP 23 G C 63326941 63326941 Broad TAF1 6872 broad.mit.edu GRCh37 X 70598110 70598110 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000276072.3:c.1019C>G p.Ser340Cys p.S340C ENST00000276072 340 tCc/tGc 0 Missense_Mutation C 30 TAF1 SNP 23 C G 70514835 70514835 Broad TCEAL2 140597 broad.mit.edu GRCh37 X 101381973 101381973 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000372780.1:c.171G>A p.Pro57= p.P57= ENST00000372780 NM_080390.3 57 ccG/ccA 0 Silent G 40 TCEAL2 SNP 23 G A 101268629 101268629 Broad TFDP3 51270 broad.mit.edu GRCh37 X 132351861 132351861 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000310125.4:c.427G>C p.Ala143Pro p.A143P ENST00000310125 NM_016521.2 143 Gct/Cct 0 Missense_Mutation C 28 TFDP3 SNP 23 C G 132179527 132179527 Broad MAGEA3 4102 broad.mit.edu GRCh37 X 151935929 151935929 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown x x x ENST00000393902.3:c.238T>G p.Trp80Gly p.W80G ENST00000393902 80 Tgg/Ggg 0 Missense_Mutation A 7 MAGEA3 SNP 23 A C 151686585 151686585 Broad TP53 7157 broad.mit.edu GRCh37 17 7578275 7578277 + inframe_deletion In_Frame_Del DEL GAG GAG - novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.572_574delCTC p.Pro191del p.P191del ENST00000269305 NM_001126112.2 191 cCTCag/cag 0 In_Frame_Del GAG 45 TP53 DEL 17 GAG - 7519002 7519000 Broad PSTPIP1 9051 broad.mit.edu GRCh37 15 77329453 77329454 + stop_gained,frameshift_variant Nonsense_Mutation INS - - AAGT novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000558012.1:c.1187_1188insAAGT p.Trp396Ter p.W396* ENST00000558012 NM_003978.3 396 tgg/tgAAGTg 0 Frame_Shift_Ins - 47 PSTPIP1 INS 15 AAGT AAGT 75116509 75116508 Broad ITFG3 83986 broad.mit.edu GRCh37 16 313325 313332 + frameshift_variant Frame_Shift_Del DEL GGCTCAGA GGCTCAGA - novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000399932.3:c.1039_1046del p.Ser347LeufsTer39 p.S347Lfs*39 ENST00000399932 NM_001284497.1 346 GGCTCAGAg/g 0 Frame_Shift_Del GGCTCAGA 43 ITFG3 DEL 16 - GGCTCAGA 253333 253326 Broad ZFPM1 161882 broad.mit.edu GRCh37 16 88601257 88601266 + frameshift_variant Frame_Shift_Del DEL CGCCGGCGCC CGCCGGCGCC - novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000319555.3:c.2891_2900del p.Thr964SerfsTer39 p.T964Sfs*39 ENST00000319555 NM_153813.2 964 aCGCCGGCGCCg/ag 0 Frame_Shift_Del CGCCGGCGCC 19 ZFPM1 DEL 16 - CGCCGGCGCC 87128767 87128758 Broad SON 6651 broad.mit.edu GRCh37 21 34925619 34925622 + frameshift_variant Frame_Shift_Del DEL AGTC AGTC - novel Unknown TCGA-24-0975-01 TCGA-24-0975-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000356577.4:c.4082_4085del p.Glu1361ValfsTer4 p.E1361Vfs*4 ENST00000356577 NM_138927.2 1361 gAGTCt/gt 0 Frame_Shift_Del AGTC 11 SON DEL 21 - AGTC 33847492 33847489 Broad ABCG8 64241 hgsc.bcm.edu GRCh37 2 44073368 44073368 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000272286.2:c.240C>T p.Cys80= p.C80= ENST00000272286 NM_022437.2 80 tgC/tgT 0 Silent C 26 ABCG8 SNP 2 C T 43926872 43926872 Baylor CCDC178 374864 hgsc.bcm.edu GRCh37 18 30903493 30903493 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000383096.3:c.984G>T p.Lys328Asn p.K328N ENST00000383096 328 aaG/aaT 0 Missense_Mutation C 24 C18orf34 SNP 18 C A 29157491 29157491 Baylor C3AR1 719 hgsc.bcm.edu GRCh37 12 8212521 8212521 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000307637.4:c.261G>A p.Gln87= p.Q87= ENST00000307637 NM_004054.2 87 caG/caA 0 Silent C 20 C3AR1 SNP 12 C T 8103788 8103788 Baylor CACNA1D 776 hgsc.bcm.edu GRCh37 3 53810044 53810044 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000288139.4:c.4394T>G p.Ile1465Ser p.I1465S ENST00000288139 NM_000720.3 1465 aTc/aGc 0 Missense_Mutation T 50 CACNA1D SNP 3 T G 53785084 53785084 Baylor CHD2 1106 hgsc.bcm.edu GRCh37 15 93499688 93499688 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000394196.4:c.1810-1G>C p.X604_splice ENST00000394196 NM_001271.3 0 Splice_Site_SNP G 33 CHD2 SNP 15 G C 91300692 91300692 Baylor CMTM1 113540 hgsc.bcm.edu GRCh37 16 66603931 66603931 + synonymous_variant Silent SNP T T G novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379500.2:c.525T>G p.Val175= p.V175= ENST00000379500 NM_181268.2 175 gtT/gtG 0 Silent T 64 CMTM1 SNP 16 T G 65161432 65161432 Baylor CYP1A2 1544 hgsc.bcm.edu GRCh37 15 75042235 75042235 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000343932.4:c.156G>A p.Gly52= p.G52= ENST00000343932 NM_000761.3 52 ggG/ggA 0 Silent G 42 CYP1A2 SNP 15 G A 72829288 72829288 Baylor ENPP2 5168 hgsc.bcm.edu GRCh37 8 120596276 120596276 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000259486.6:c.1537G>A p.Val513Ile p.V513I ENST00000259486 NM_006209.4 513 Gtt/Att 0 Missense_Mutation C 17 ENPP2 SNP 8 C T 120665457 120665457 Baylor EPB41L5 57669 hgsc.bcm.edu GRCh37 2 120776784 120776784 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000263713.5:c.124A>G p.Ile42Val p.I42V ENST00000263713 NM_020909.3 42 Atc/Gtc 0 Missense_Mutation A 8 EPB41L5 SNP 2 A G 120493254 120493254 Baylor EVPL 2125 hgsc.bcm.edu GRCh37 17 74003677 74003678 + frameshift_variant Frame_Shift_Ins INS - - CC novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000301607.3:c.5607_5608dup p.Asp1870GlyfsTer19 p.D1870Gfs*19 ENST00000301607 NM_001988.2 1870 gac/gGGac 0 Frame_Shift_Ins - 58 EVPL INS 17 - CC 71515273 71515272 Baylor GTF2H4 2968 hgsc.bcm.edu GRCh37 6 30879920 30879920 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000259895.4:c.955A>G p.Thr319Ala p.T319A ENST00000259895 NM_001517.4 319 Acg/Gcg 0 Missense_Mutation A 6 GTF2H4 SNP 6 A G 30987899 30987899 Baylor HEATR1 55127 hgsc.bcm.edu GRCh37 1 236751309 236751309 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000366582.3:c.1565T>A p.Val522Asp p.V522D ENST00000366582 NM_018072.5 522 gTt/gAt 0 Missense_Mutation A 2 HEATR1 SNP 1 A T 234817932 234817932 Baylor IL1F10 84639 hgsc.bcm.edu GRCh37 2 113831977 113831977 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393197.2:c.104A>T p.Asp35Val p.D35V ENST00000393197 NM_032556.5 35 gAc/gTc 0 Missense_Mutation A 10 IL1F10 SNP 2 A T 113548448 113548448 Baylor KRIT1 889 hgsc.bcm.edu GRCh37 7 91865843 91865843 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000394507.1:c.369C>A p.Tyr123Ter p.Y123* ENST00000394507 NM_194456.1 123 taC/taA 0 Nonsense_Mutation G 48 KRIT1 SNP 7 G T 91703779 91703779 Baylor LRP2 4036 hgsc.bcm.edu GRCh37 2 169985521 169985521 + splice_donor_variant Splice_Site SNP A A T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000263816.3:c.13800+2T>A p.X4600_splice ENST00000263816 NM_004525.2 0 Splice_Site_SNP A 14 LRP2 SNP 2 A T 169693767 169693767 Baylor LRRC7 57554 hgsc.bcm.edu GRCh37 1 70502290 70502290 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000035383.5:c.2157T>G p.Asn719Lys p.N719K ENST00000035383 NM_020794.2 719 aaT/aaG 0 Missense_Mutation T 52 LRRC7 SNP 1 T G 70274878 70274878 Baylor MAP3K4 4216 hgsc.bcm.edu GRCh37 6 161470751 161470751 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000392142.4:c.1447G>T p.Asp483Tyr p.D483Y ENST00000392142 NM_005922.2 483 Gac/Tac 0 Missense_Mutation G 37 MAP3K4 SNP 6 G T 161390741 161390741 Baylor MKI67 4288 hgsc.bcm.edu GRCh37 10 129903301 129903301 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368654.3:c.6803C>A p.Thr2268Lys p.T2268K ENST00000368654 NM_002417.4 2268 aCa/aAa 0 Missense_Mutation G 48 MKI67 SNP 10 G T 129793291 129793291 Baylor MTDH 92140 hgsc.bcm.edu GRCh37 8 98731334 98731334 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000336273.3:c.1438A>G p.Thr480Ala p.T480A ENST00000336273 NM_178812.3 480 Acc/Gcc 0 Missense_Mutation A 2 MTDH SNP 8 A G 98800510 98800510 Baylor OR8D1 283159 hgsc.bcm.edu GRCh37 11 124180320 124180320 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357821.2:c.343C>G p.Leu115Val p.L115V ENST00000357821 NM_001002917.1 115 Ctg/Gtg 0 Missense_Mutation G 35 OR8D1 SNP 11 G C 123685530 123685530 Baylor PAPPA 5069 hgsc.bcm.edu GRCh37 9 118950205 118950205 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000328252.3:c.1188C>A p.Asp396Glu p.D396E ENST00000328252 NM_002581.3 396 gaC/gaA 0 Missense_Mutation C 19 PAPPA SNP 9 C A 117990026 117990026 Baylor PGF 5228 hgsc.bcm.edu GRCh37 14 75409432 75409432 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000555567.1:c.490G>A p.Gly164Ser p.G164S ENST00000555567 NM_002632.5 164 Ggc/Agc 0 Missense_Mutation C 23 PGF SNP 14 C T 74479185 74479185 Baylor POP7 10248 hgsc.bcm.edu GRCh37 7 100304543 100304543 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000303151.4:c.90G>A p.Leu30= p.L30= ENST00000303151 NM_005837.2 30 ctG/ctA 0 Silent G 46 POP7 SNP 7 G A 100142479 100142479 Baylor PRKD3 23683 hgsc.bcm.edu GRCh37 2 37481412 37481412 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379066.1:c.2434C>A p.Leu812Met p.L812M ENST00000379066 812 Ctg/Atg 0 Missense_Mutation G 33 PRKD3 SNP 2 G T 37334916 37334916 Baylor RXFP2 122042 hgsc.bcm.edu GRCh37 13 32335888 32335888 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000298386.2:c.269T>G p.Phe90Cys p.F90C ENST00000298386 NM_130806.3 90 tTt/tGt 0 Missense_Mutation T 64 RXFP2 SNP 13 T G 31233888 31233888 Baylor S100A10 6281 hgsc.bcm.edu GRCh37 1 151955649 151955649 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000368811.3:c.284G>A p.Gly95Glu p.G95E ENST00000368811 NM_002966.2 95 gGa/gAa 0 Missense_Mutation C 30 S100A10 SNP 1 C T 150222273 150222273 Baylor SACM1L 22908 hgsc.bcm.edu GRCh37 3 45751049 45751049 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000389061.5:c.393T>C p.Phe131= p.F131= ENST00000389061 NM_014016.3 131 ttT/ttC 0 Silent T 64 SACM1L SNP 3 T C 45726053 45726053 Baylor SEC14L1 6397 hgsc.bcm.edu GRCh37 17 75190860 75190860 + synonymous_variant Silent SNP A A G novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000392476.2:c.576A>G p.Thr192= p.T192= ENST00000392476 NM_001204408.1 192 acA/acG 0 Silent A 8 SEC14L1 SNP 17 A G 72702455 72702455 Baylor SERPINA12 145264 hgsc.bcm.edu GRCh37 14 94964401 94964401 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000341228.2:c.334C>A p.Leu112Ile p.L112I ENST00000341228 NM_173850.2 112 Ctt/Att 0 Missense_Mutation G 33 SERPINA12 SNP 14 G T 94034154 94034154 Baylor SLC2A8 29988 hgsc.bcm.edu GRCh37 9 130162197 130162197 + synonymous_variant Silent SNP C C G novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373371.3:c.438C>G p.Ser146= p.S146= ENST00000373371 NM_014580.4 146 tcC/tcG 0 Silent C 23 SLC2A8 SNP 9 C G 129202018 129202018 Baylor SPANXN3 139067 hgsc.bcm.edu GRCh37 X 142596799 142596799 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000370503.2:c.271T>A p.Leu91Ile p.L91I ENST00000370503 NM_001009609.2 91 Tta/Ata 0 Missense_Mutation A 3 SPANXN3 SNP 23 A T 142424465 142424465 Baylor TACC2 10579 hgsc.bcm.edu GRCh37 10 123988996 123988996 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000369005.1:c.8032C>T p.Leu2678Phe p.L2678F ENST00000369005 NM_206862.2 2678 Ctc/Ttc 0 Missense_Mutation C 20 TACC2 SNP 10 C T 123978986 123978986 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578403 7578403 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.527G>A p.Cys176Tyr p.C176Y ENST00000269305 NM_001126112.2 176 tGc/tAc 0 Missense_Mutation C 25 TP53 SNP 17 C T 7519128 7519128 Baylor TYRO3 7301 hgsc.bcm.edu GRCh37 15 41857238 41857238 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000263798.3:c.682C>T p.Pro228Ser p.P228S ENST00000263798 NM_006293.3 228 Ccc/Tcc 0 Missense_Mutation C 22 TYRO3 SNP 15 C T 39644530 39644530 Baylor ZC3HAV1 56829 hgsc.bcm.edu GRCh37 7 138732462 138732462 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-09-1662-01 TCGA-09-1662-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000242351.5:c.2587C>T p.Gln863Ter p.Q863* ENST00000242351 NM_020119.3 863 Cag/Tag 0 Nonsense_Mutation G 48 ZC3HAV1 SNP 7 G A 138383002 138383002 Baylor PDYN 5173 genome.wustl.edu GRCh37 20 1961196 1961196 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000217305.2:c.538C>T p.Arg180Cys p.R180C ENST00000217305 NM_024411.4 180 Cgc/Tgc 0 Missense_Mutation G 38 PDYN SNP 20 G A 1909196 1909196 WashU E4F1 1877 genome.wustl.edu GRCh37 16 2282783 2282783 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000301727.4:c.757T>G p.Cys253Gly p.C253G ENST00000301727 NM_004424.3 253 Tgt/Ggt 0 Missense_Mutation T 59 E4F1 SNP 16 G G 2222784 2222784 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577099 7577099 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.839G>T p.Arg280Ile p.R280I ENST00000269305 NM_001126112.2 280 aGa/aTa 0 Missense_Mutation C 32 TP53 SNP 17 C A 7517824 7517824 WashU KIDINS220 57498 genome.wustl.edu GRCh37 2 8926117 8926117 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256707.3:c.1983C>A p.Val661= p.V661= ENST00000256707 NM_020738.2 661 gtC/gtA 0 Silent G 45 KIDINS220 SNP 2 G T 8843568 8843568 WashU COL5A3 50509 genome.wustl.edu GRCh37 19 10097016 10097016 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264828.3:c.2327G>C p.Gly776Ala p.G776A ENST00000264828 NM_015719.3 776 gGg/gCg 0 Missense_Mutation C 22 COL5A3 SNP 19 C G 9958016 9958016 WashU FAM171A1 221061 genome.wustl.edu GRCh37 10 15256365 15256365 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378116.4:c.1222G>T p.Gly408Trp p.G408W ENST00000378116 NM_001010924.1 408 Ggg/Tgg 0 Missense_Mutation C 24 FAM171A1 SNP 10 C A 15296371 15296371 WashU CHEK2P4 100132032 genome.wustl.edu GRCh37 22 16990301 16990301 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C T T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000450340.1:n.182C>T *61* ENST00000450340 0 Missense_Mutation C 27 LOC100132032 SNP 22 T T 15370301 15370301 WashU ESPNP 284729 genome.wustl.edu GRCh37 1 17030615 17030615 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000270691.4:n.721C>A *241* ENST00000270691 0 Silent G 39 ESPNP SNP 1 G T 16903202 16903202 WashU RFXANK 8625 genome.wustl.edu GRCh37 19 19310021 19310021 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303088.4:c.690C>T p.Ala230= p.A230= ENST00000303088 NM_003721.3 230 gcC/gcT 0 Silent C 23 RFXANK SNP 19 C T 19171021 19171021 WashU ERN2 10595 genome.wustl.edu GRCh37 16 23706580 23706580 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256797.4:c.1885G>T p.Glu629Ter p.E629* ENST00000256797 NM_033266.3 629 Gag/Tag 0 Nonsense_Mutation C 31 ERN2 SNP 16 C A 23614081 23614081 WashU CTSG 1511 genome.wustl.edu GRCh37 14 25042874 25042874 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216336.2:c.737A>T p.Lys246Ile p.K246I ENST00000216336 NM_001911.2 246 aAa/aTa 0 Missense_Mutation T 64 CTSG SNP 14 T A 24112714 24112714 WashU HADHB 3032 genome.wustl.edu GRCh37 2 26496570 26496570 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000317799.5:c.306C>T p.Ile102= p.I102= ENST00000317799 NM_000183.2 102 atC/atT 0 Silent C 32 HADHB SNP 2 C T 26350074 26350074 WashU AK2 204 genome.wustl.edu GRCh37 1 33478791 33478791 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354858.6:c.711G>C p.Met237Ile p.M237I ENST00000354858 NM_001625.3 237 atG/atC 0 Missense_Mutation C 17 AK2 SNP 1 C G 33251378 33251378 WashU CSRNP1 64651 genome.wustl.edu GRCh37 3 39185736 39185736 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000273153.5:c.672G>A p.Lys224= p.K224= ENST00000273153 NM_033027.3 224 aaG/aaA 0 Silent C 28 CSRNP1 SNP 3 C T 39160740 39160740 WashU DSCAM 1826 genome.wustl.edu GRCh37 21 41505831 41505831 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400454.1:c.3512C>T p.Ala1171Val p.A1171V ENST00000400454 NM_001271534.1 1171 gCa/gTa 0 Missense_Mutation G 46 DSCAM SNP 21 G A 40427701 40427701 WashU KRTAP10-9 386676 genome.wustl.edu GRCh37 21 46047294 46047294 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397911.3:c.206C>G p.Ser69Ter p.S69* ENST00000397911 NM_198690.2 69 tCa/tGa 0 Nonsense_Mutation C 29 KRTAP10-9 SNP 21 G G 44871722 44871722 WashU RTP3 83597 genome.wustl.edu GRCh37 3 46539651 46539651 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000296142.3:c.99T>A p.Leu33= p.L33= ENST00000296142 NM_031440.1 33 ctT/ctA 0 Silent T 62 RTP3 SNP 3 T A 46514655 46514655 WashU ZNF81 347344 genome.wustl.edu GRCh37 X 47774835 47774835 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376954.1:c.790A>G p.Asn264Asp p.N264D ENST00000376954 264 Aat/Gat 0 Missense_Mutation A 1 ZNF81 SNP 23 A G 47659779 47659779 WashU TRIM49B 283116 genome.wustl.edu GRCh37 11 49053317 49053317 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332682.7:c.166A>C p.Thr56Pro p.T56P ENST00000332682 NM_001206626.1 56 Aca/Cca 0 Missense_Mutation A 6 LOC283116 SNP 11 A C 49009893 49009893 WashU KRT2 3849 genome.wustl.edu GRCh37 12 53041563 53041563 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000309680.3:c.1199A>G p.Asn400Ser p.N400S ENST00000309680 NM_000423.2 400 aAc/aGc 0 Missense_Mutation T 60 KRT2 SNP 12 T C 51327830 51327830 WashU UNC13C 440279 genome.wustl.edu GRCh37 15 54305940 54305940 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260323.11:c.840T>A p.Ser280Arg p.S280R ENST00000260323 NM_001080534.1 280 agT/agA 0 Missense_Mutation T 59 UNC13C SNP 15 T A 52093232 52093232 WashU MMP2 4313 genome.wustl.edu GRCh37 16 55532238 55532238 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000219070.4:c.1647G>A p.Glu549= p.E549= ENST00000219070 NM_004530.4 549 gaG/gaA 0 Silent G 34 MMP2 SNP 16 G A 54089739 54089739 WashU SLC17A7 57030 genome.wustl.edu GRCh37 19 49938043 49938043 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000221485.3:c.531C>T p.Ile177= p.I177= ENST00000221485 NM_020309.3 177 atC/atT 0 Silent G 41 SLC17A7 SNP 19 G A 54629855 54629855 WashU MRC2 9902 genome.wustl.edu GRCh37 17 60765701 60765701 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303375.5:c.2998G>A p.Ala1000Thr p.A1000T ENST00000303375 NM_006039.4 1000 Gca/Aca 0 Missense_Mutation G 42 MRC2 SNP 17 G A 58119433 58119433 WashU LENG1 79165 genome.wustl.edu GRCh37 19 54660764 54660764 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000222224.3:c.313-1G>A p.X105_splice ENST00000222224 NM_024316.1 0 Splice_Site_SNP C 24 LENG1 SNP 19 C T 59352576 59352576 WashU KIR3DX1 90011 genome.wustl.edu GRCh37 19 55045083 55045083 + missense_variant,NMD_transcript_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000221567.6:c.203G>T p.Ser68Ile p.S68I ENST00000221567 68 aGc/aTc 0 Missense_Mutation G 34 KIR3DX1 SNP 19 G T 59736895 59736895 WashU BICC1 80114 genome.wustl.edu GRCh37 10 60560712 60560713 + missense_variant Missense_Mutation DNP GG GG TT novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 GG GG GG TT GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373886.3:c.1921_1922delinsTT p.Gly641Phe p.G641F ENST00000373886 NM_001080512.1 641 GGt/TTt 0 Missense GG 47 BICC1 DNP 10 GG TT 60230719 60230718 WashU TMBIM4 51643 genome.wustl.edu GRCh37 12 66546129 66546129 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358230.3:c.234C>T p.Leu78= p.L78= ENST00000358230 NM_016056.2 78 ctC/ctT 0 Silent G 37 TMBIM4 SNP 12 G A 64832396 64832396 WashU BAI3 577 genome.wustl.edu GRCh37 6 70040396 70040396 + splice_acceptor_variant Splice_Site SNP A A T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370598.1:c.3036-2A>T p.X1012_splice ENST00000370598 NM_001704.2 0 Splice_Site_SNP A 7 BAI3 SNP 6 A T 70097117 70097117 WashU TAF1 6872 genome.wustl.edu GRCh37 X 70679539 70679539 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276072.3:c.5262A>C p.Glu1754Asp p.E1754D ENST00000276072 1754 gaA/gaC 0 Missense_Mutation A 3 TAF1 SNP 23 A C 70596264 70596264 WashU CXCR3 2833 genome.wustl.edu GRCh37 X 70837303 70837303 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373691.4:c.160G>A p.Asp54Asn p.D54N ENST00000373691 NM_001142797.1 54 Gac/Aac 0 Missense_Mutation C 29 CXCR3 SNP 23 C T 70754028 70754028 WashU ISLR 3671 genome.wustl.edu GRCh37 15 74467669 74467669 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000249842.3:c.470G>A p.Arg157His p.R157H ENST00000249842 NM_005545.3 157 cGc/cAc 0 Missense_Mutation G 38 ISLR SNP 15 G A 72254722 72254722 WashU ALDH1A1 216 genome.wustl.edu GRCh37 9 75531968 75531968 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000297785.3:c.903G>A p.Gln301= p.Q301= ENST00000297785 NM_000689.4 301 caG/caA 0 Missense_Mutation C 20 ALDH1A1 SNP 9 C T 74721788 74721788 WashU MAGI2 9863 genome.wustl.edu GRCh37 7 77885461 77885461 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354212.4:c.1846G>C p.Gly616Arg p.G616R ENST00000354212 NM_012301.3 616 Ggc/Cgc 0 Missense_Mutation C 23 MAGI2 SNP 7 C G 77723397 77723397 WashU IL16 3603 genome.wustl.edu GRCh37 15 81552159 81552159 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000302987.4:c.359C>A p.Ala120Glu p.A120E ENST00000302987 120 gCa/gAa 0 Missense_Mutation C 25 IL16 SNP 15 C A 79339214 79339214 WashU CLCA2 9635 genome.wustl.edu GRCh37 1 86900279 86900279 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370565.4:c.823G>T p.Ala275Ser p.A275S ENST00000370565 NM_006536.5 275 Gca/Tca 0 Missense_Mutation G 46 CLCA2 SNP 1 G T 86672867 86672867 WashU SV2B 9899 genome.wustl.edu GRCh37 15 91795145 91795145 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000394232.1:c.548C>T p.Ala183Val p.A183V ENST00000394232 NM_014848.4 183 gCc/gTc 0 Missense_Mutation C 26 SV2B SNP 15 C T 89596149 89596149 WashU MAP3K7 6885 genome.wustl.edu GRCh37 6 91257852 91257852 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369329.3:c.994G>A p.Asp332Asn p.D332N ENST00000369329 NM_145331.2 332 Gac/Aac 0 Missense_Mutation C 29 MAP3K7 SNP 6 C T 91314573 91314573 WashU ENTPD7 57089 genome.wustl.edu GRCh37 10 101439150 101439150 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000370489.4:c.324C>A p.Asn108Lys p.N108K ENST00000370489 NM_020354.3 108 aaC/aaA 0 Missense_Mutation C 18 ENTPD7 SNP 10 C A 101429140 101429140 WashU NFKBIZ 64332 genome.wustl.edu GRCh37 3 101574576 101574576 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326172.5:c.1655-1G>T p.X552_splice ENST00000326172 NM_031419.3 0 Splice_Site_SNP G 35 NFKBIZ SNP 3 G T 103057266 103057266 WashU MYO16 23026 genome.wustl.edu GRCh37 13 109318342 109318342 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356711.2:c.71G>A p.Arg24His p.R24H ENST00000356711 NM_015011.1 24 cGc/cAc 0 Missense_Mutation G 38 MYO16 SNP 13 G A 108116343 108116343 WashU RGAG1 57529 genome.wustl.edu GRCh37 X 109694909 109694909 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000465301.2:c.1064C>A p.Pro355His p.P355H ENST00000465301 NM_020769.2 355 cCc/cAc 0 Missense_Mutation C 22 RGAG1 SNP 23 C A 109581565 109581565 WashU SLC6A14 11254 genome.wustl.edu GRCh37 X 115572242 115572242 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371900.4:c.323G>C p.Trp108Ser p.W108S ENST00000371900 NM_007231.3 108 tGg/tCg 0 Missense_Mutation G 47 SLC6A14 SNP 23 G C 115486270 115486270 WashU SLC22A15 55356 genome.wustl.edu GRCh37 1 116562264 116562264 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369503.4:c.362G>C p.Gly121Ala p.G121A ENST00000369503 NM_018420.2 121 gGt/gCt 0 Missense_Mutation G 44 SLC22A15 SNP 1 G C 116363787 116363787 WashU GDAP2 54834 genome.wustl.edu GRCh37 1 118420630 118420630 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369443.5:c.1446+1G>A p.X482_splice ENST00000369443 NM_017686.3 0 Splice_Site_SNP C 18 GDAP2 SNP 1 C T 118222153 118222153 WashU WNT16 51384 genome.wustl.edu GRCh37 7 120979284 120979284 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000222462.2:c.983G>A p.Gly328Asp p.G328D ENST00000222462 NM_057168.1 328 gGt/gAt 0 Missense_Mutation G 44 WNT16 SNP 7 G A 120766520 120766520 WashU XIAP 331 genome.wustl.edu GRCh37 X 123020045 123020045 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355640.3:c.533A>G p.His178Arg p.H178R ENST00000355640 178 cAc/cGc 0 Missense_Mutation A 6 XIAP SNP 23 A G 122847726 122847726 WashU WDR5B 54554 genome.wustl.edu GRCh37 3 122133656 122133656 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330689.4:c.720C>A p.Ser240Arg p.S240R ENST00000330689 NM_019069.3 240 agC/agA 0 Missense_Mutation G 46 WDR5B SNP 3 G T 123616346 123616346 WashU BBS12 166379 genome.wustl.edu GRCh37 4 123663417 123663417 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000542236.1:c.370A>T p.Ser124Cys p.S124C ENST00000542236 NM_001178007.1 124 Agt/Tgt 0 Missense_Mutation A 15 BBS12 SNP 4 A T 123882867 123882867 WashU CNTNAP5 129684 genome.wustl.edu GRCh37 2 125671733 125671733 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000431078.1:c.3789C>A p.Tyr1263Ter p.Y1263* ENST00000431078 NM_130773.3 1263 taC/taA 0 Nonsense_Mutation C 18 CNTNAP5 SNP 2 C A 125388203 125388203 WashU TRIM24 8805 genome.wustl.edu GRCh37 7 138269549 138269549 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343526.4:c.3006G>C p.Lys1002Asn p.K1002N ENST00000343526 1002 aaG/aaC 0 Missense_Mutation G 33 TRIM24 SNP 7 G C 137920089 137920089 WashU MRPS22 56945 genome.wustl.edu GRCh37 3 139065782 139065782 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000495075.1:c.235C>G p.Leu79Val p.L79V ENST00000495075 79 Ctc/Gtc 0 Missense_Mutation C 20 MRPS22 SNP 3 C G 140548472 140548472 WashU TRBV5-1 genome.wustl.edu GRCh37 7 142021092 142021092 + synonymous_variant Silent SNP T T C novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390381.3:c.72T>C p.Thr24= p.T24= ENST00000390381 24 acT/acC 0 Silent T 54 uc003vxi.2 SNP 7 T C 141667577 141667577 WashU HORMAD1 84072 genome.wustl.edu GRCh37 1 150680808 150680808 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361824.2:c.471T>A p.Ile157= p.I157= ENST00000361824 NM_032132.4 157 atT/atA 0 Silent A 1 HORMAD1 SNP 1 A T 148947432 148947432 WashU FLG 2312 genome.wustl.edu GRCh37 1 152279337 152279337 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000368799.1:c.8025T>C p.Ala2675= p.A2675= ENST00000368799 NM_002016.1 2675 gcT/gcC 0 Silent A 3 FLG SNP 1 A G 150545961 150545961 WashU KPRP 448834 genome.wustl.edu GRCh37 1 152733725 152733725 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368773.1:c.1661G>A p.Arg554Gln p.R554Q ENST00000368773 NM_001025231.1 554 cGg/cAg 0 Missense_Mutation G 39 KPRP SNP 1 G A 151000349 151000349 WashU RP11-208P4.1 genome.wustl.edu GRCh37 3 163719613 163719613 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000483240.1:n.641G>T *214* ENST00000483240 0 Missense_Mutation C 24 ENSG00000214210 SNP 3 C A 165202307 165202307 WashU ABCF3 55324 genome.wustl.edu GRCh37 3 183905928 183905928 + splice_acceptor_variant Splice_Site SNP G G T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000429586.2:c.570-1G>T p.X190_splice ENST00000429586 NM_018358.2 0 Splice_Site_SNP G 33 ABCF3 SNP 3 G T 185388622 185388622 WashU CASP10 843 genome.wustl.edu GRCh37 2 202070639 202070639 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000286186.6:c.756C>T p.Val252= p.V252= ENST00000286186 NM_032977.3 252 gtC/gtT 0 Silent C 32 CASP10 SNP 2 C T 201778884 201778884 WashU RPL7P14 genome.wustl.edu GRCh37 2 203905158 203905158 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000449851.1:n.328C>T *110* ENST00000449851 0 Missense_Mutation C 20 LOC100129743 SNP 2 C T 203613403 203613403 WashU RAPH1 65059 genome.wustl.edu GRCh37 2 204320264 204320264 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000319170.5:c.1198G>A p.Glu400Lys p.E400K ENST00000319170 NM_213589.1 400 Gaa/Aaa 0 Missense_Mutation C 29 RAPH1 SNP 2 C T 204028509 204028509 WashU NLRP3 114548 genome.wustl.edu GRCh37 1 247599443 247599443 + splice_donor_variant Splice_Site SNP G G C novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336119.3:c.2669+1G>C p.X890_splice ENST00000336119 NM_001127462.2 0 Splice_Site_SNP G 44 NLRP3 SNP 1 G C 245666066 245666066 WashU SLC22A12 116085 genome.wustl.edu GRCh37 11 64359149 64359171 + frameshift_variant Frame_Shift_Del DEL TCGGCCGCCGTGCCCAGCCACCG TCGGCCGCCGTGCCCAGCCACCG - novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 TCGGCCGCCGTGCCCAGCCACCG TCGGCCGCCGTGCCCAGCCACCG TCGGCCGCCGTGCCCAGCCACCG - TCGGCCGCCGTGCCCAGCCACCG TCGGCCGCCGTGCCCAGCCACCG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377574.1:c.121_143del p.Ser41LeufsTer22 p.S41Lfs*22 ENST00000377574 NM_144585.3 41 TCGGCCGCCGTGCCCAGCCACCGc/c 0 Frame_Shift_Del TCGGCCGCCGTGCCCAGCCACCG 54 SLC22A12 DEL 11 TCGGCCGCCGTGCCCAGCCACCG - 64115747 64115725 WashU GOLGA6C 653641 genome.wustl.edu GRCh37 15 75556405 75556405 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000300576.5:c.545A>G p.Gln182Arg p.Q182R ENST00000300576 NM_001164404.1 182 cAg/cGg 0 Missense_Mutation A 7 LOC653641 SNP 15 A G 73343458 73343458 WashU RP11-309L24.2 100131134 genome.wustl.edu GRCh37 7 128493414 128493414 + non_coding_transcript_exon_variant RNA SNP T T A novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000469965.1:n.140A>T *47* ENST00000469965 0 Silent T 53 LOC100131134 SNP 7 A A 128280650 128280650 WashU STAG3 10734 genome.wustl.edu GRCh37 7 99798487 99798487 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1482-01 TCGA-13-1482-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000426455.1:c.1956C>T p.Leu652= p.L652= ENST00000426455 NM_001282716.1 652 ctC/ctT 0 Silent C 32 STAG3 SNP 7 C T 99636423 99636423 WashU PRRG3 79057 genome.wustl.edu GRCh37 X 150869300 150869301 + frameshift_variant Frame_Shift_Ins INS - - T Unknown TCGA-13-1482-01 TCGA-13-1482-10 - - - T - - Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000370353.3:c.491_492insT p.Arg166GlnfsTer14 p.R166Qfs*14 ENST00000370353 164 ggg/ggTg 0 Frame_Shift_Ins - 43 PRRG3 INS 23 - T 150619957 150619956 WashU ACOT9 23597 hgsc.bcm.edu GRCh37 X 23723914 23723914 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1626-01 TCGA-25-1626-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000379303.5:c.904C>G p.Leu302Val p.L302V ENST00000379303 NM_001037171.1 302 Ctg/Gtg 0 Missense_Mutation G 36 ACOT9 SNP 23 G C 23633835 23633835 Baylor DNASE2 1777 hgsc.bcm.edu GRCh37 19 12986912 12986912 + synonymous_variant Silent SNP T T G novel Unknown TCGA-25-1626-01 TCGA-25-1626-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000222219.3:c.975A>C p.Thr325= p.T325= ENST00000222219 NM_001375.2 325 acA/acC 0 Silent T 59 DNASE2 SNP 19 T G 12847912 12847912 Baylor EXOC4 60412 hgsc.bcm.edu GRCh37 7 133314819 133314819 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1626-01 TCGA-25-1626-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000253861.4:c.1439T>C p.Ile480Thr p.I480T ENST00000253861 NM_021807.3 480 aTt/aCt 0 Missense_Mutation T 52 EXOC4 SNP 7 T C 132965359 132965359 Baylor KIAA0195 9772 hgsc.bcm.edu GRCh37 17 73491026 73491026 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1626-01 TCGA-25-1626-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000314256.7:c.2639C>G p.Ser880Cys p.S880C ENST00000314256 NM_014738.4 880 tCc/tGc 0 Missense_Mutation C 30 KIAA0195 SNP 17 C G 71002621 71002621 Baylor LEMD3 23592 hgsc.bcm.edu GRCh37 12 65634766 65634766 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1626-01 TCGA-25-1626-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000308330.2:c.2204G>A p.Arg735Gln p.R735Q ENST00000308330 NM_014319.4 735 cGa/cAa 0 Missense_Mutation G 37 LEMD3 SNP 12 G A 63921033 63921033 Baylor MDH1B 130752 hgsc.bcm.edu GRCh37 2 207625682 207625682 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-1626-01 TCGA-25-1626-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000374412.3:c.78A>G p.Gln26= p.Q26= ENST00000374412 NM_001039845.1 26 caA/caG 0 Silent T 64 MDH1B SNP 2 T C 207333927 207333927 Baylor NIPBL 25836 hgsc.bcm.edu GRCh37 5 37019429 37019429 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1626-01 TCGA-25-1626-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000282516.8:c.4937A>G p.Asp1646Gly p.D1646G ENST00000282516 NM_133433.3 1646 gAt/gGt 0 Missense_Mutation A 12 NIPBL SNP 5 A G 37055186 37055186 Baylor PSMB4 5692 hgsc.bcm.edu GRCh37 1 151373047 151373047 + synonymous_variant Silent SNP C C G novel Unknown TCGA-25-1626-01 TCGA-25-1626-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000290541.6:c.477C>G p.Gly159= p.G159= ENST00000290541 NM_002796.2 159 ggC/ggG 0 Silent C 28 PSMB4 SNP 1 C G 149639671 149639671 Baylor RRP1B 23076 hgsc.bcm.edu GRCh37 21 45108088 45108088 + synonymous_variant Silent SNP G G T novel Unknown TCGA-25-1626-01 TCGA-25-1626-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000340648.4:c.1833G>T p.Val611= p.V611= ENST00000340648 NM_015056.2 611 gtG/gtT 0 Silent G 46 RRP1B SNP 21 G T 43932516 43932516 Baylor SEC63 11231 hgsc.bcm.edu GRCh37 6 108214755 108214755 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-25-1626-01 TCGA-25-1626-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000369002.4:c.1605delA p.Lys535AsnfsTer28 p.K535Nfs*28 ENST00000369002 NM_007214.4 535 aaA/aa 0 Frame_Shift_Del T 60 SEC63 DEL 6 T - 108321448 108321448 Baylor TET2 54790 hgsc.bcm.edu GRCh37 4 106156750 106156750 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1626-01 TCGA-25-1626-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000380013.4:c.1651G>C p.Asp551His p.D551H ENST00000380013 NM_001127208.2 551 Gat/Cat 0 Missense_Mutation G 33 TET2 SNP 4 G C 106376199 106376199 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577547 7577547 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1626-01 TCGA-25-1626-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.734G>T p.Gly245Val p.G245V ENST00000269305 NM_001126112.2 245 gGc/gTc 0 Missense_Mutation C 26 TP53 SNP 17 C A 7518272 7518272 Baylor RLF 6018 broad.mit.edu GRCh37 1 40627309 40627309 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000372771.4:c.237+1G>T p.X79_splice ENST00000372771 NM_012421.3 0 Splice_Site_SNP G 44 RLF SNP 1 G T 40399896 40399896 Broad LEFTY1 10637 broad.mit.edu GRCh37 1 226074505 226074505 + synonymous_variant Silent SNP G G T novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000272134.5:c.1023C>A p.Val341= p.V341= ENST00000272134 NM_020997.3 341 gtC/gtA 0 Silent G 45 LEFTY1 SNP 1 G T 224141128 224141128 Broad SVIL 6840 broad.mit.edu GRCh37 10 29776109 29776109 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000375398.2:c.4468G>A p.Val1490Ile p.V1490I ENST00000375398 1490 Gtc/Atc 0 Missense_Mutation C 19 SVIL SNP 10 C T 29816115 29816115 Broad RGR 5995 broad.mit.edu GRCh37 10 86008738 86008738 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000359452.4:c.309G>A p.Ala103= p.A103= ENST00000359452 NM_002921.3 103 gcG/gcA 0 Silent G 40 RGR SNP 10 G A 85998718 85998718 Broad OR5L2 26338 broad.mit.edu GRCh37 11 55594897 55594897 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000378397.1:c.203T>C p.Phe68Ser p.F68S ENST00000378397 NM_001004739.1 68 tTt/tCt 0 Missense_Mutation T 64 OR5L2 SNP 11 T C 55351473 55351473 Broad ATL3 25923 broad.mit.edu GRCh37 11 63426708 63426708 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000398868.3:c.63C>T p.Ser21= p.S21= ENST00000398868 NM_015459.3 21 agC/agT 0 Silent G 46 ATL3 SNP 11 G A 63183284 63183284 Broad RASGRP2 10235 broad.mit.edu GRCh37 11 64507546 64507547 + missense_variant Missense_Mutation DNP TC TC GA novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000354024.3:c.460_461inv p.Glu154Ser p.E154S ENST00000354024 NM_153819.1 154 GAg/TCg 0 Missense_Mutation TC 54 RASGRP2 DNP 11 TC GA 64264123 64264122 Broad LRRK2 120892 broad.mit.edu GRCh37 12 40707951 40707951 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000298910.7:c.4714G>A p.Ala1572Thr p.A1572T ENST00000298910 NM_198578.3 1572 Gca/Aca 0 Missense_Mutation G 38 LRRK2 SNP 12 G A 38994218 38994218 Broad KRT85 3891 broad.mit.edu GRCh37 12 52760873 52760873 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000257901.3:c.317C>T p.Thr106Met p.T106M ENST00000257901 NM_002283.3 106 aCg/aTg 0 Missense_Mutation G 40 KRT85 SNP 12 G A 51047140 51047140 Broad UTP20 27340 broad.mit.edu GRCh37 12 101757449 101757449 + stop_gained Nonsense_Mutation SNP C C G novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000261637.4:c.5886C>G p.Tyr1962Ter p.Y1962* ENST00000261637 NM_014503.2 1962 taC/taG 0 Nonsense_Mutation C 19 UTP20 SNP 12 C G 100281580 100281580 Broad CCDC64 92558 broad.mit.edu GRCh37 12 120530924 120530924 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000397558.2:c.1681G>A p.Ala561Thr p.A561T ENST00000397558 NM_207311.2 561 Gct/Act 0 Missense_Mutation G 38 CCDC64 SNP 12 G A 119015307 119015307 Broad FOXG1 2290 broad.mit.edu GRCh37 14 29237220 29237220 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000382535.3:c.735C>T p.His245= p.H245= ENST00000382535 245 caC/caT 0 Silent C 20 FOXG1 SNP 14 C T 28306971 28306971 Broad MLH3 27030 broad.mit.edu GRCh37 14 75515588 75515588 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000355774.2:c.771A>G p.Arg257= p.R257= ENST00000355774 NM_001040108.1 257 agA/agG 0 Silent T 58 MLH3 SNP 14 T C 74585341 74585341 Broad MAP1A 4130 broad.mit.edu GRCh37 15 43818600 43818600 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000300231.5:c.4929G>A p.Gly1643= p.G1643= ENST00000300231 1643 ggG/ggA 0 Silent G 42 MAP1A SNP 15 G A 41605892 41605892 Broad BFAR 51283 broad.mit.edu GRCh37 16 14743686 14743686 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000261658.2:c.494G>A p.Ser165Asn p.S165N ENST00000261658 NM_016561.2 165 aGc/aAc 0 Missense_Mutation G 34 BFAR SNP 16 G A 14651187 14651187 Broad NUDT7 283927 broad.mit.edu GRCh37 16 77759482 77759482 + splice_donor_variant Splice_Site SNP G G T novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000268533.5:c.189+1G>T p.X63_splice ENST00000268533 NM_001105663.2 0 Splice_Site_SNP G 44 NUDT7 SNP 16 G T 76316983 76316983 Broad TP53 7157 broad.mit.edu GRCh37 17 7578443 7578443 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000269305.4:c.487T>C p.Tyr163His p.Y163H ENST00000269305 NM_001126112.2 163 Tac/Cac 0 Missense_Mutation A 15 TP53 SNP 17 A G 7519168 7519168 Broad NF1 4763 broad.mit.edu GRCh37 17 29548875 29548875 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000358273.4:c.1649T>C p.Leu550Pro p.L550P ENST00000358273 NM_001042492.2 550 cTg/cCg 0 Missense_Mutation T 55 NF1 SNP 17 T C 26573001 26573001 Broad EZH1 2145 broad.mit.edu GRCh37 17 40872468 40872469 + splice_acceptor_variant Splice_Site DNP CT CT AC novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000428826.2:c.488-2_488-1delinsGT p.X163_splice ENST00000428826 0 Splice_Site_SNP CT 32 EZH1 DNP 17 CT AC 38125995 38125994 Broad DUS1L 64118 broad.mit.edu GRCh37 17 80020846 80020846 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000354321.7:c.401T>C p.Leu134Ser p.L134S ENST00000354321 134 tTg/tCg 0 Missense_Mutation A 5 DUS1L SNP 17 A G 77614135 77614135 Broad RBBP8 5932 broad.mit.edu GRCh37 18 20602131 20602131 + synonymous_variant Silent SNP T T C novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000399722.2:c.2494T>C p.Leu832= p.L832= ENST00000399722 NM_203291.1 832 Ttg/Ctg 0 Silent T 52 RBBP8 SNP 18 T C 18856129 18856129 Broad ZNF236 7776 broad.mit.edu GRCh37 18 74659528 74659528 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000253159.8:c.4828G>T p.Gly1610Ter p.G1610* ENST00000253159 NM_007345.3 1610 Gga/Tga 0 Nonsense_Mutation G 47 ZNF236 SNP 18 G T 72788516 72788516 Broad KISS1R 84634 broad.mit.edu GRCh37 19 920425 920425 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000234371.5:c.874G>C p.Gly292Arg p.G292R ENST00000234371 NM_032551.4 292 Ggc/Cgc 0 Missense_Mutation G 43 KISS1R SNP 19 G C 871425 871425 Broad ZNF181 339318 broad.mit.edu GRCh37 19 35231923 35231923 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000492450.1:c.637A>G p.Asn213Asp p.N213D ENST00000492450 213 Aat/Gat 0 Missense_Mutation A 13 ZNF181 SNP 19 A G 39923763 39923763 Broad PPP2R1A 5518 broad.mit.edu GRCh37 19 52714675 52714675 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000322088.6:c.433A>C p.Thr145Pro p.T145P ENST00000322088 NM_014225.5 145 Acc/Ccc 0 Missense_Mutation A 6 PPP2R1A SNP 19 A C 57406487 57406487 Broad KCNS3 3790 broad.mit.edu GRCh37 2 18113408 18113408 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000403915.1:c.1133C>T p.Pro378Leu p.P378L ENST00000403915 NM_001282428.1 378 cCg/cTg 0 Missense_Mutation C 23 KCNS3 SNP 2 C T 17976889 17976889 Broad GTF3C2 2976 broad.mit.edu GRCh37 2 27552339 27552339 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000359541.2:c.1784G>A p.Arg595Gln p.R595Q ENST00000359541 595 cGg/cAg 0 Missense_Mutation C 23 GTF3C2 SNP 2 C T 27405843 27405843 Broad KCNK12 56660 broad.mit.edu GRCh37 2 47748838 47748838 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000327876.4:c.501C>T p.Arg167= p.R167= ENST00000327876 NM_022055.1 167 cgC/cgT 0 Silent G 46 KCNK12 SNP 2 G A 47602342 47602342 Broad WIPF1 7456 broad.mit.edu GRCh37 2 175436888 175436888 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000392547.2:c.645C>T p.Pro215= p.P215= ENST00000392547 NM_003387.4 215 ccC/ccT 0 Silent G 39 WIPF1 SNP 2 G A 175145134 175145134 Broad FZD5 7855 broad.mit.edu GRCh37 2 208632254 208632254 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000295417.3:c.1210G>T p.Val404Leu p.V404L ENST00000295417 NM_003468.3 404 Gtg/Ttg 0 Missense_Mutation C 19 FZD5 SNP 2 C A 208340499 208340499 Broad ABCB6 10058 broad.mit.edu GRCh37 2 220083043 220083043 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000265316.3:c.353G>C p.Gly118Ala p.G118A ENST00000265316 NM_005689.2 118 gGc/gCc 0 Missense_Mutation C 26 ABCB6 SNP 2 C G 219791287 219791287 Broad LRRFIP1 9208 broad.mit.edu GRCh37 2 238672128 238672128 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000392000.4:c.1772T>C p.Val591Ala p.V591A ENST00000392000 NM_001137552.1 591 gTt/gCt 0 Missense_Mutation T 60 LRRFIP1 SNP 2 T C 238336867 238336867 Broad MOV10L1 54456 broad.mit.edu GRCh37 22 50546652 50546652 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000262794.5:c.530C>G p.Pro177Arg p.P177R ENST00000262794 NM_018995.2 177 cCa/cGa 0 Missense_Mutation C 21 MOV10L1 SNP 22 C G 48888779 48888779 Broad FAM19A1 407738 broad.mit.edu GRCh37 3 68466563 68466563 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000478136.1:c.252C>T p.Cys84= p.C84= ENST00000478136 NM_213609.3 84 tgC/tgT 0 Silent C 27 FAM19A1 SNP 3 C T 68549253 68549253 Broad IQCJ-SCHIP1 100505385 broad.mit.edu GRCh37 3 159604073 159604073 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000445224.2:c.227G>A p.Ser76Asn p.S76N ENST00000445224 NM_001197109.1 76 aGt/aAt 0 Missense_Mutation G 36 SCHIP1 SNP 3 G A 161086767 161086767 Broad SI 6476 broad.mit.edu GRCh37 3 164785145 164785145 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000264382.3:c.618A>T p.Lys206Asn p.K206N ENST00000264382 NM_001041.3 206 aaA/aaT 0 Missense_Mutation T 64 SI SNP 3 T A 166267839 166267839 Broad PCDHAC2 56134 broad.mit.edu GRCh37 5 140347638 140347638 + synonymous_variant Silent SNP A A G novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000289269.5:c.1287A>G p.Arg429= p.R429= ENST00000289269 NM_018899.5 429 cgA/cgG 0 Silent A 11 PCDHAC2 SNP 5 A G 140327822 140327822 Broad CLINT1 9685 broad.mit.edu GRCh37 5 157236727 157236727 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000523908.1:c.604G>A p.Gly202Ser p.G202S ENST00000523908 202 Ggt/Agt 0 Missense_Mutation C 24 CLINT1 SNP 5 C T 157169305 157169305 Broad HSPA1A 3303 broad.mit.edu GRCh37 6 31785270 31785270 + synonymous_variant Silent SNP G G A novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000375651.5:c.1737G>A p.Ser579= p.S579= ENST00000375651 NM_005345.5 579 tcG/tcA 0 Silent G 40 HSPA1A SNP 6 G A 31893249 31893249 Broad TNXB 7148 broad.mit.edu GRCh37 6 32029423 32029423 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000375244.3:c.7243G>C p.Gly2415Arg p.G2415R ENST00000375244 2415 Ggg/Cgg 0 Missense_Mutation C 22 TNXB SNP 6 C G 32137401 32137401 Broad PKD1L1 168507 broad.mit.edu GRCh37 7 47851444 47851444 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000289672.2:c.7552G>A p.Ala2518Thr p.A2518T ENST00000289672 NM_138295.3 2518 Gcc/Acc 0 Missense_Mutation C 28 PKD1L1 SNP 7 C T 47817969 47817969 Broad PPP1R9A 55607 broad.mit.edu GRCh37 7 94897943 94897943 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000433360.1:c.2747G>C p.Arg916Thr p.R916T ENST00000433360 NM_001166160.1 916 aGa/aCa 0 Missense_Mutation G 33 PPP1R9A SNP 7 G C 94735879 94735879 Broad MYOM2 9172 broad.mit.edu GRCh37 8 2046692 2046692 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000262113.4:c.2319C>T p.Asp773= p.D773= ENST00000262113 NM_003970.2 773 gaC/gaT 0 Silent C 19 MYOM2 SNP 8 C T 2034099 2034099 Broad DOCK5 80005 broad.mit.edu GRCh37 8 25199955 25199955 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000276440.7:c.2549A>G p.Asn850Ser p.N850S ENST00000276440 NM_024940.6 850 aAc/aGc 0 Missense_Mutation A 2 DOCK5 SNP 8 A G 25255872 25255872 Broad PRKDC 5591 broad.mit.edu GRCh37 8 48805847 48805847 + synonymous_variant Silent SNP C C T novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000314191.2:c.3699G>A p.Ser1233= p.S1233= ENST00000314191 NM_006904.6 1233 tcG/tcA 0 Silent C 23 PRKDC SNP 8 C T 48968400 48968400 Broad SDC2 6383 broad.mit.edu GRCh37 8 97605775 97605775 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000302190.4:c.128T>G p.Val43Gly p.V43G ENST00000302190 NM_002998.3 43 gTg/gGg 0 Missense_Mutation T 59 SDC2 SNP 8 T G 97674951 97674951 Broad SCRIB 23513 broad.mit.edu GRCh37 8 144891086 144891086 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000356994.2:c.1808T>A p.Ile603Asn p.I603N ENST00000356994 NM_182706.4 603 aTc/aAc 0 Missense_Mutation A 12 SCRIB SNP 8 A T 144963074 144963074 Broad PTPRD 5789 broad.mit.edu GRCh37 9 8331723 8331723 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000356435.5:c.5393G>A p.Arg1798Gln p.R1798Q ENST00000356435 1798 cGa/cAa 0 Missense_Mutation C 31 PTPRD SNP 9 C T 8321723 8321723 Broad IFNA13 3447 broad.mit.edu GRCh37 9 21367904 21367904 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000449498.1:c.106A>T p.Arg36Trp p.R36W ENST00000449498 NM_006900.3 36 Agg/Tgg 0 Missense_Mutation T 55 IFNA13 SNP 9 T A 21357904 21357904 Broad TRPM3 80036 broad.mit.edu GRCh37 9 73477872 73477872 + synonymous_variant Silent SNP A A C novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000377110.3:c.414T>G p.Ala138= p.A138= ENST00000377110 138 gcT/gcG 0 Silent A 3 TRPM3 SNP 9 A C 72667692 72667692 Broad OR13C5 138799 broad.mit.edu GRCh37 9 107360994 107360994 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000374779.2:c.701G>T p.Arg234Ile p.R234I ENST00000374779 NM_001004482.1 234 aGa/aTa 0 Missense_Mutation C 32 OR13C5 SNP 9 C A 106400815 106400815 Broad ODF2 4957 broad.mit.edu GRCh37 9 131233665 131233665 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000434106.3:c.499C>G p.His167Asp p.H167D ENST00000434106 NM_153433.1 167 Cac/Gac 0 Missense_Mutation C 21 ODF2 SNP 9 C G 130273486 130273486 Broad NUP188 23511 broad.mit.edu GRCh37 9 131742900 131742900 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000372577.2:c.1285C>G p.Leu429Val p.L429V ENST00000372577 NM_015354.2 429 Ctt/Gtt 0 Missense_Mutation C 24 NUP188 SNP 9 C G 130782721 130782721 Broad ITGB1BP2 26548 broad.mit.edu GRCh37 X 70522291 70522291 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000373829.3:c.202A>G p.Lys68Glu p.K68E ENST00000373829 NM_012278.1 68 Aag/Gag 0 Missense_Mutation A 9 ITGB1BP2 SNP 23 A G 70439016 70439016 Broad AFF2 2334 broad.mit.edu GRCh37 X 147919205 147919205 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown x x x ENST00000370460.2:c.1121C>T p.Ser374Phe p.S374F ENST00000370460 NM_002025.3 374 tCc/tTc 0 Missense_Mutation C 30 AFF2 SNP 23 C T 147726897 147726897 Broad KIAA0430 9665 broad.mit.edu GRCh37 16 15705439 15705458 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL ATCAACTCACCAGTGATAAG ATCAACTCACCAGTGATAAG - novel Unknown TCGA-09-2053-01 TCGA-09-2053-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000396368.3:c.3608_3617+10del p.X1203_splice ENST00000396368 NM_001184998.1 1203 0 Splice_Site_Del ATCAACTCACCAGTGATAAG 8 KIAA0430 DEL 16 - ATCAACTCACCAGTGATAAG 15612959 15612940 Broad CSF2RA 1438 genome.wustl.edu GRCh37 X 1419504 1419504 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000417535.2:c.931G>T p.Glu311Ter p.E311* ENST00000417535 NM_001161530.1 311 Gaa/Taa 0 Nonsense_Mutation G 45 CSF2RA SNP 23 G T 1379504 1379504 WashU IL3RA 3563 genome.wustl.edu GRCh37 X 1471279 1471279 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000331035.4:c.496C>A p.Arg166Ser p.R166S ENST00000331035 NM_002183.3 166 Cgt/Agt 0 Missense_Mutation C 31 IL3RA SNP 23 C A 1431279 1431279 WashU TGM6 343641 genome.wustl.edu GRCh37 20 2380980 2380980 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000202625.2:c.879G>T p.Arg293= p.R293= ENST00000202625 NM_198994.2 293 cgG/cgT 0 Silent G 43 TGM6 SNP 20 G T 2328980 2328980 WashU PITRM1 10531 genome.wustl.edu GRCh37 10 3208518 3208518 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000380989.2:c.321G>A p.Glu107= p.E107= ENST00000380989 NM_014889.3 107 gaG/gaA 0 Silent C 28 PITRM1 SNP 10 C T 3198518 3198518 WashU TAS1R1 80835 genome.wustl.edu GRCh37 1 6631275 6631275 + missense_variant,splice_region_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333172.6:c.498G>C p.Met166Ile p.M166I ENST00000333172 NM_138697.3 166 atG/atC 0 Missense_Mutation G 47 TAS1R1 SNP 1 G C 6553862 6553862 WashU CAMTA1 23261 genome.wustl.edu GRCh37 1 6885168 6885168 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303635.7:c.132C>T p.Ser44= p.S44= ENST00000303635 NM_015215.2 44 agC/agT 0 Silent C 25 CAMTA1 SNP 1 C T 6807755 6807755 WashU EMR1 2015 genome.wustl.edu GRCh37 19 6919735 6919735 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000312053.4:c.1597A>G p.Ile533Val p.I533V ENST00000312053 NM_001974.4 533 Atc/Gtc 0 Missense_Mutation A 8 EMR1 SNP 19 A G 6870735 6870735 WashU ARHGEF18 23370 genome.wustl.edu GRCh37 19 7523469 7523469 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359920.6:c.1689G>T p.Met563Ile p.M563I ENST00000359920 NM_001130955.1 563 atG/atT 0 Missense_Mutation G 48 ARHGEF18 SNP 19 G T 7429469 7429469 WashU TP53 7157 genome.wustl.edu GRCh37 17 7578265 7578265 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.584T>C p.Ile195Thr p.I195T ENST00000269305 NM_001126112.2 195 aTc/aCc 0 Missense_Mutation A 12 TP53 SNP 17 A G 7518990 7518990 WashU ZNF177 7730 genome.wustl.edu GRCh37 19 9492249 9492249 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000434737.2:c.1242C>G p.His414Gln p.H414Q ENST00000434737 414 caC/caG 0 Missense_Mutation C 17 ZNF177 SNP 19 C G 9353249 9353249 WashU MYH1 4619 genome.wustl.edu GRCh37 17 10399611 10399611 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000226207.5:c.4912C>T p.Arg1638Cys p.R1638C ENST00000226207 NM_005963.3 1638 Cgc/Tgc 0 Missense_Mutation G 39 MYH1 SNP 17 G A 10340336 10340336 WashU METTL6 131965 genome.wustl.edu GRCh37 3 15457403 15457403 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000443029.1:c.407A>T p.Asp136Val p.D136V ENST00000443029 136 gAt/gTt 0 Missense_Mutation T 50 METTL6 SNP 3 T A 15432407 15432407 WashU TBC1D28 254272 genome.wustl.edu GRCh37 17 18541683 18541683 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000345096.4:c.330G>A p.Ala110= p.A110= ENST00000345096 110 gcG/gcA 0 Silent C 19 TBC1D28 SNP 17 C T 18482408 18482408 WashU ZNF429 353088 genome.wustl.edu GRCh37 19 21720471 21720471 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000358491.4:c.1616G>A p.Cys539Tyr p.C539Y ENST00000358491 NM_001001415.2 539 tGt/tAt 0 Missense_Mutation G 48 ZNF429 SNP 19 G A 21512311 21512311 WashU CABIN1 23523 genome.wustl.edu GRCh37 22 24491950 24491950 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398319.2:c.3843G>A p.Gly1281= p.G1281= ENST00000398319 NM_001199281.1 1281 ggG/ggA 0 Silent G 43 CABIN1 SNP 22 G A 22821950 22821950 WashU ZFX 7543 genome.wustl.edu GRCh37 X 24226335 24226335 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379177.1:c.941A>G p.Asn314Ser p.N314S ENST00000379177 NM_003410.3 314 aAt/aGt 0 Missense_Mutation A 12 ZFX SNP 23 A G 24136256 24136256 WashU ZKSCAN2 342357 genome.wustl.edu GRCh37 16 25255569 25255569 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000328086.7:c.1518G>A p.Lys506= p.K506= ENST00000328086 NM_001012981.4 506 aaG/aaA 0 Silent C 32 ZKSCAN2 SNP 16 C T 25163070 25163070 WashU C1orf172 126695 genome.wustl.edu GRCh37 1 27278400 27278400 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000320567.5:c.472A>G p.Ser158Gly p.S158G ENST00000320567 NM_152365.2 158 Agc/Ggc 0 Missense_Mutation T 55 C1orf172 SNP 1 T C 27150987 27150987 WashU EPHX2 2053 genome.wustl.edu GRCh37 8 27369405 27369405 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000521400.1:c.713G>C p.Ser238Thr p.S238T ENST00000521400 NM_001979.5 238 aGc/aCc 0 Missense_Mutation G 34 EPHX2 SNP 8 G C 27425322 27425322 WashU UQCR10 29796 genome.wustl.edu GRCh37 22 30163396 30163396 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330029.6:c.9C>T p.Ala3= p.A3= ENST00000330029 NM_001003684.1 3 gcC/gcT 0 Silent C 23 UQCR10 SNP 22 C T 28493396 28493396 WashU STARD13 90627 genome.wustl.edu GRCh37 13 33739488 33739488 + synonymous_variant Silent SNP T T A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000336934.5:c.309A>T p.Val103= p.V103= ENST00000336934 NM_178006.3 103 gtA/gtT 0 Silent T 53 STARD13 SNP 13 T A 32637488 32637488 WashU RASGRP1 10125 genome.wustl.edu GRCh37 15 38803830 38803830 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000310803.5:c.941C>T p.Ser314Leu p.S314L ENST00000310803 NM_005739.3 314 tCg/tTg 0 Missense_Mutation G 37 RASGRP1 SNP 15 G A 36591122 36591122 WashU ANKRD30A 91074 genome.wustl.edu GRCh37 10 37506757 37506757 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 T T T G T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361713.1:c.3050T>G p.Leu1017Arg p.L1017R ENST00000361713 NM_052997.2 1017 cTc/cGc 0 Missense_Mutation T 54 ANKRD30A SNP 10 T G 37546763 37546763 WashU ADAMTS20 80070 genome.wustl.edu GRCh37 12 43826111 43826111 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000389420.3:c.3092G>A p.Ser1031Asn p.S1031N ENST00000389420 NM_025003.3 1031 aGc/aAc 0 Missense_Mutation C 28 ADAMTS20 SNP 12 C T 42112378 42112378 WashU KDM6A 7403 genome.wustl.edu GRCh37 X 44937706 44937706 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000377967.4:c.2894A>T p.Asn965Ile p.N965I ENST00000377967 NM_021140.2 965 aAc/aTc 0 Missense_Mutation A 2 KDM6A SNP 23 A T 44822650 44822650 WashU RPL10L 140801 genome.wustl.edu GRCh37 14 47120738 47120738 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000298283.3:c.202G>A p.Ala68Thr p.A68T ENST00000298283 NM_080746.2 68 Gcc/Acc 0 Missense_Mutation C 27 RPL10L SNP 14 C T 46190488 46190488 WashU DMXL2 23312 genome.wustl.edu GRCh37 15 51829847 51829847 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000543779.2:c.1455A>C p.Pro485= p.P485= ENST00000543779 485 ccA/ccC 0 Silent T 59 DMXL2 SNP 15 T G 49617139 49617139 WashU DDC 1644 genome.wustl.edu GRCh37 7 50611607 50611607 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000444124.2:c.177C>A p.Asp59Glu p.D59E ENST00000444124 NM_001082971.1 59 gaC/gaA 0 Missense_Mutation G 40 DDC SNP 7 G T 50579101 50579101 WashU GSTA1 2938 genome.wustl.edu GRCh37 6 52657770 52657770 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000334575.5:c.430G>C p.Gly144Arg p.G144R ENST00000334575 NM_145740.3 144 Gga/Cga 0 Missense_Mutation C 21 GSTA1 SNP 6 C G 52765729 52765729 WashU RAB27A 5873 genome.wustl.edu GRCh37 15 55520900 55520900 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000396307.2:c.250T>C p.Leu84= p.L84= ENST00000396307 NM_004580.4 84 Tta/Cta 0 Silent A 3 RAB27A SNP 15 A G 53308192 53308192 WashU SMC1A 8243 genome.wustl.edu GRCh37 X 53432459 53432459 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322213.4:c.1877G>A p.Arg626His p.R626H ENST00000322213 NM_001281463.1 626 cGc/cAc 0 Missense_Mutation C 27 SMC1A SNP 23 C T 53449184 53449184 WashU COL21A1 81578 genome.wustl.edu GRCh37 6 56035888 56035888 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000244728.5:c.679G>A p.Asp227Asn p.D227N ENST00000244728 NM_030820.3 227 Gat/Aat 0 Missense_Mutation C 29 COL21A1 SNP 6 C T 56143847 56143847 WashU BCAS3 54828 genome.wustl.edu GRCh37 17 58967062 58967062 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390652.5:c.668A>G p.Tyr223Cys p.Y223C ENST00000390652 NM_001099432.1 223 tAt/tGt 0 Missense_Mutation A 16 BCAS3 SNP 17 G G 56321844 56321844 WashU DST 667 genome.wustl.edu GRCh37 6 56506838 56506838 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000244364.6:c.323T>C p.Ile108Thr p.I108T ENST00000244364 NM_015548.4 108 aTa/aCa 0 Missense_Mutation A 16 DST SNP 6 A G 56614797 56614797 WashU SYCP2 10388 genome.wustl.edu GRCh37 20 58441389 58441389 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357552.3:c.4279A>T p.Lys1427Ter p.K1427* ENST00000357552 1427 Aaa/Taa 0 Nonsense_Mutation T 64 SYCP2 SNP 20 T A 57874784 57874784 WashU FAM111A 63901 genome.wustl.edu GRCh37 11 58920238 58920238 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000528737.1:c.1097C>G p.Thr366Ser p.T366S ENST00000528737 366 aCt/aGt 0 Missense_Mutation C 20 FAM111A SNP 11 C G 58676814 58676814 WashU NLRP9 338321 genome.wustl.edu GRCh37 19 56249720 56249720 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000332836.2:c.21G>A p.Ser7= p.S7= ENST00000332836 NM_176820.2 7 tcG/tcA 0 Silent C 23 NLRP9 SNP 19 C T 60941532 60941532 WashU PPP1R32 220004 genome.wustl.edu GRCh37 11 61254627 61254627 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000338608.2:c.958G>C p.Gly320Arg p.G320R ENST00000338608 NM_145017.2 320 Ggg/Cgg 0 Missense_Mutation G 35 C11orf66 SNP 11 G C 61011203 61011203 WashU SLC16A9 220963 genome.wustl.edu GRCh37 10 61413887 61413887 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395348.3:c.897T>C p.Ala299= p.A299= ENST00000395348 NM_194298.2 299 gcT/gcC 0 Silent A 11 SLC16A9 SNP 10 A G 61083893 61083893 WashU NLRP5 126206 genome.wustl.edu GRCh37 19 56539283 56539283 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000390649.3:c.1684C>T p.Arg562Cys p.R562C ENST00000390649 NM_153447.4 562 Cgt/Tgt 0 Missense_Mutation C 23 NLRP5 SNP 19 C T 61231095 61231095 WashU TAF6L 10629 genome.wustl.edu GRCh37 11 62553809 62553809 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000294168.3:c.1038A>G p.Val346= p.V346= ENST00000294168 NM_006473.3 346 gtA/gtG 0 Silent A 16 TAF6L SNP 11 A G 62310385 62310385 WashU IGDCC3 9543 genome.wustl.edu GRCh37 15 65622130 65622130 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000327987.4:c.1931G>T p.Gly644Val p.G644V ENST00000327987 NM_004884.3 644 gGc/gTc 0 Missense_Mutation C 26 IGDCC3 SNP 15 C A 63409183 63409183 WashU ZFYVE26 23503 genome.wustl.edu GRCh37 14 68222743 68222743 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000347230.4:c.6708G>T p.Lys2236Asn p.K2236N ENST00000347230 NM_015346.3 2236 aaG/aaT 0 Missense_Mutation C 20 ZFYVE26 SNP 14 C A 67292496 67292496 WashU TMF1 7110 genome.wustl.edu GRCh37 3 69082855 69082856 + splice_acceptor_variant,coding_sequence_variant Splice_Site DNP TC TC GA novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 TC TC TC GA TC TC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398559.2:c.2245-1_2245inv p.X749_splice ENST00000398559 0 Missense TC 54 TMF1 DNP 3 TC GA 69165546 69165545 WashU HKDC1 80201 genome.wustl.edu GRCh37 10 71010331 71010331 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354624.5:c.1759T>G p.Tyr587Asp p.Y587D ENST00000354624 NM_025130.3 587 Tac/Gac 0 Missense_Mutation T 53 HKDC1 SNP 10 T G 70680337 70680337 WashU TRPA1 8989 genome.wustl.edu GRCh37 8 72981273 72981273 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262209.4:c.429T>C p.Asn143= p.N143= ENST00000262209 NM_007332.2 143 aaT/aaC 0 Silent A 16 TRPA1 SNP 8 A G 73143827 73143827 WashU IL8 3576 genome.wustl.edu GRCh37 4 74607289 74607289 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000307407.3:c.95T>A p.Leu32His p.L32H ENST00000307407 NM_000584.3 32 cTt/cAt 0 Missense_Mutation T 56 IL8 SNP 4 T A 74826153 74826153 WashU COL12A1 1303 genome.wustl.edu GRCh37 6 75892996 75892996 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000322507.8:c.1661C>G p.Ser554Ter p.S554* ENST00000322507 NM_004370.5 554 tCa/tGa 0 Nonsense_Mutation G 45 COL12A1 SNP 6 G C 75949716 75949716 WashU GBE1 2632 genome.wustl.edu GRCh37 3 81754734 81754734 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000429644.2:c.174C>T p.Asn58= p.N58= ENST00000429644 NM_000158.3 58 aaC/aaT 0 Silent G 48 GBE1 SNP 3 G A 81837424 81837424 WashU C1orf52 148423 genome.wustl.edu GRCh37 1 85725076 85725076 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000471115.1:c.241G>C p.Asp81His p.D81H ENST00000471115 NM_198077.3 81 Gac/Cac 0 Missense_Mutation C 32 C1orf52 SNP 1 C G 85497664 85497664 WashU CNGB3 54714 genome.wustl.edu GRCh37 8 87660106 87660106 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000320005.5:c.913G>A p.Ala305Thr p.A305T ENST00000320005 NM_019098.4 305 Gca/Aca 0 Missense_Mutation C 27 CNGB3 SNP 8 C T 87729222 87729222 WashU KLHL32 114792 genome.wustl.edu GRCh37 6 97587058 97587058 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369261.4:c.1763C>T p.Ala588Val p.A588V ENST00000369261 NM_052904.3 588 gCt/gTt 0 Missense_Mutation C 28 KLHL32 SNP 6 C T 97693779 97693779 WashU TBC1D2 55357 genome.wustl.edu GRCh37 9 100965682 100965682 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375066.5:c.2159C>A p.Ala720Asp p.A720D ENST00000375066 NM_018421.3 720 gCc/gAc 0 Missense_Mutation G 42 TBC1D2 SNP 9 G T 100005503 100005503 WashU AHNAK2 113146 genome.wustl.edu GRCh37 14 105416181 105416181 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C A C A Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333244.5:c.5607G>T p.Thr1869= p.T1869= ENST00000333244 NM_138420.2 1869 acG/acT 0 Silent C 23 AHNAK2 SNP 14 C A 104487226 104487226 WashU AHNAK2 113146 genome.wustl.edu GRCh37 14 105416186 105416186 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 T T T C T C Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000333244.5:c.5602A>G p.Thr1868Ala p.T1868A ENST00000333244 NM_138420.2 1868 Acc/Gcc 0 Missense_Mutation T 58 AHNAK2 SNP 14 T C 104487231 104487231 WashU COL4A1 1282 genome.wustl.edu GRCh37 13 110827611 110827611 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000375820.4:c.3152A>T p.Gln1051Leu p.Q1051L ENST00000375820 NM_001845.4 1051 cAg/cTg 0 Missense_Mutation T 55 COL4A1 SNP 13 T A 109625612 109625612 WashU CUX2 23316 genome.wustl.edu GRCh37 12 111746135 111746135 + missense_variant,splice_region_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261726.6:c.1156C>G p.Gln386Glu p.Q386E ENST00000261726 NM_015267.3 386 Cag/Gag 0 Missense_Mutation C 21 CUX2 SNP 12 G G 110230518 110230518 WashU PHLDB2 90102 genome.wustl.edu GRCh37 3 111604103 111604103 + synonymous_variant Silent SNP A A T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000431670.2:c.1179A>T p.Ala393= p.A393= ENST00000431670 NM_001134438.1 393 gcA/gcT 0 Silent A 7 PHLDB2 SNP 3 A T 113086793 113086793 WashU NRAP 4892 genome.wustl.edu GRCh37 10 115400046 115400046 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359988.3:c.1368C>A p.Asn456Lys p.N456K ENST00000359988 NM_001261463.1 456 aaC/aaA 0 Missense_Mutation G 36 NRAP SNP 10 G T 115390036 115390036 WashU RNF26 79102 genome.wustl.edu GRCh37 11 119206996 119206996 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000311413.4:c.1164G>A p.Lys388= p.K388= ENST00000311413 NM_032015.4 388 aaG/aaA 0 Silent G 33 RNF26 SNP 11 G A 118712206 118712206 WashU HAS2 3037 genome.wustl.edu GRCh37 8 122641138 122641138 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000303924.4:c.443G>A p.Trp148Ter p.W148* ENST00000303924 NM_005328.2 148 tGg/tAg 0 Nonsense_Mutation C 21 HAS2 SNP 8 C T 122710319 122710319 WashU STAG2 10735 genome.wustl.edu GRCh37 X 123184055 123184055 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000218089.9:c.913C>A p.Arg305= p.R305= ENST00000218089 NM_001042749.1 305 Cga/Aga 0 Silent C 31 STAG2 SNP 23 C A 123011736 123011736 WashU POTEJ 653781 genome.wustl.edu GRCh37 2 131412503 131412503 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000409602.1:c.1677A>C p.Gln559His p.Q559H ENST00000409602 NM_001277083.1 559 caA/caC 0 Missense_Mutation A 1 LOC653781 SNP 2 A C 131128973 131128973 WashU SV2A 9900 genome.wustl.edu GRCh37 1 149880761 149880761 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369146.3:c.1362G>T p.Trp454Cys p.W454C ENST00000369146 NM_014849.4 454 tgG/tgT 0 Missense_Mutation C 18 SV2A SNP 1 C A 148147385 148147385 WashU SV2A 9900 genome.wustl.edu GRCh37 1 149881353 149881353 + splice_region_variant,synonymous_variant Splice_Region SNP T T G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369146.3:c.1179A>C p.Ser393= p.S393= ENST00000369146 NM_014849.4 393 tcA/tcC 0 Silent T 55 SV2A SNP 1 T G 148147977 148147977 WashU ITLN1 55600 genome.wustl.edu GRCh37 1 160851956 160851956 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326245.3:c.196T>A p.Tyr66Asn p.Y66N ENST00000326245 NM_017625.2 66 Tac/Aac 0 Missense_Mutation A 15 ITLN1 SNP 1 A T 159118580 159118580 WashU GFM1 85476 genome.wustl.edu GRCh37 3 158369907 158369907 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000486715.1:c.712A>G p.Ile238Val p.I238V ENST00000486715 NM_024996.5 238 Att/Gtt 0 Missense_Mutation A 12 GFM1 SNP 3 A G 159852601 159852601 WashU COBLL1 22837 genome.wustl.edu GRCh37 2 165559646 165559646 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342193.4:c.1310G>T p.Gly437Val p.G437V ENST00000342193 NM_014900.4 437 gGg/gTg 0 Missense_Mutation C 22 COBLL1 SNP 2 C A 165267892 165267892 WashU QSOX1 5768 genome.wustl.edu GRCh37 1 180165603 180165603 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367602.3:c.1675G>A p.Ala559Thr p.A559T ENST00000367602 559 Gca/Aca 0 Missense_Mutation G 42 QSOX1 SNP 1 G A 178432226 178432226 WashU KIAA1614 57710 genome.wustl.edu GRCh37 1 180904835 180904835 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367588.4:c.1790C>T p.Thr597Ile p.T597I ENST00000367588 NM_020950.1 597 aCa/aTa 0 Missense_Mutation C 17 KIAA1614 SNP 1 C T 179171458 179171458 WashU ETV5 2119 genome.wustl.edu GRCh37 3 185823097 185823097 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000306376.5:c.229A>C p.Asn77His p.N77H ENST00000306376 NM_004454.2 77 Aac/Cac 0 Missense_Mutation T 61 ETV5 SNP 3 T G 187305791 187305791 WashU COPS7B 64708 genome.wustl.edu GRCh37 2 232660972 232660972 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000350033.3:c.484A>G p.Ile162Val p.I162V ENST00000350033 NM_022730.1 162 Atc/Gtc 0 Missense_Mutation A 8 COPS7B SNP 2 A G 232369216 232369216 WashU GIGYF2 26058 genome.wustl.edu GRCh37 2 233660906 233660906 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409451.3:c.1677C>A p.Tyr559Ter p.Y559* ENST00000409451 559 taC/taA 0 Nonsense_Mutation C 17 GIGYF2 SNP 2 C A 233369150 233369150 WashU ILKAP 80895 genome.wustl.edu GRCh37 2 239090819 239090819 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000254654.3:c.723G>C p.Leu241Phe p.L241F ENST00000254654 NM_030768.2 241 ttG/ttC 0 Missense_Mutation C 17 ILKAP SNP 2 C G 238755558 238755558 WashU PRR21 643905 genome.wustl.edu GRCh37 2 240982247 240982247 + synonymous_variant Silent SNP A A G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000408934.1:c.153T>C p.His51= p.H51= ENST00000408934 NM_001080835.1 51 caT/caC 0 Silent A 12 LOC643905 SNP 2 A G 240630920 240630920 WashU USH1C 10083 genome.wustl.edu GRCh37 11 17548563 17548563 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000005226.7:c.521G>T p.Ser174Ile p.S174I ENST00000005226 NM_153676.3 174 aGc/aTc 0 Missense_Mutation C 24 USH1C SNP 11 A A 17505139 17505139 WashU PRSS36 146547 genome.wustl.edu GRCh37 16 31159926 31159926 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268281.4:c.343G>C p.Asp115His p.D115H ENST00000268281 NM_173502.4 115 Gac/Cac 0 Missense_Mutation C 30 PRSS36 SNP 16 C G 31067427 31067427 WashU AMPD3 272 hgsc.bcm.edu GRCh37 11 10506457 10506457 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 G G G T G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000396554.3:c.707G>T p.Gly236Val p.G236V ENST00000396554 NM_000480.2 236 gGc/gTc 0 Missense_Mutation G 42 AMPD3 SNP 11 G T 10463033 10463033 Baylor ANKRD52 283373 hgsc.bcm.edu GRCh37 12 56647530 56647530 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000267116.7:c.961C>T p.Arg321Cys p.R321C ENST00000267116 NM_173595.3 321 Cgc/Tgc 0 Missense_Mutation G 40 ANKRD52 SNP 12 G A 54933797 54933797 Baylor NOA1 84273 hgsc.bcm.edu GRCh37 4 57830619 57830619 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000264230.4:c.1838G>T p.Gly613Val p.G613V ENST00000264230 NM_032313.2 613 gGa/gTa 0 Missense_Mutation C 30 C4orf14 SNP 4 C A 57525376 57525376 Baylor C9orf50 375759 hgsc.bcm.edu GRCh37 9 132375843 132375843 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000372478.4:c.914C>G p.Ala305Gly p.A305G ENST00000372478 NM_199350.3 305 gCc/gGc 0 Missense_Mutation G 42 C9orf50 SNP 9 G C 131415664 131415664 Baylor CDH9 1007 hgsc.bcm.edu GRCh37 5 26988429 26988429 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000231021.4:c.12C>T p.Tyr4= p.Y4= ENST00000231021 NM_016279.3 4 taC/taT 0 Silent G 44 CDH9 SNP 5 G A 27024186 27024186 Baylor CHD8 57680 hgsc.bcm.edu GRCh37 14 21870226 21870226 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000399982.2:c.3952G>T p.Glu1318Ter p.E1318* ENST00000399982 NM_001170629.1 1318 Gaa/Taa 0 Nonsense_Mutation C 30 CHD8 SNP 14 C A 20940066 20940066 Baylor CHN1 1123 hgsc.bcm.edu GRCh37 2 175816915 175816915 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000409900.3:c.35G>C p.Arg12Thr p.R12T ENST00000409900 NM_001822.5 12 aGa/aCa 0 Missense_Mutation C 32 CHN1 SNP 2 C G 175525161 175525161 Baylor COPS8 10920 hgsc.bcm.edu GRCh37 2 237998543 237998543 + synonymous_variant Silent SNP A A G novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000354371.2:c.237A>G p.Gln79= p.Q79= ENST00000354371 NM_006710.4 79 caA/caG 0 Silent A 1 COPS8 SNP 2 A G 237663282 237663282 Baylor CTNNB1 1499 hgsc.bcm.edu GRCh37 3 41275769 41275769 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 G G G C G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000349496.5:c.1664G>C p.Gly555Ala p.G555A ENST00000349496 NM_001904.3 555 gGg/gCg 0 Missense_Mutation G 43 CTNNB1 SNP 3 G C 41250773 41250773 Baylor CXorf22 170063 hgsc.bcm.edu GRCh37 X 35985797 35985797 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000297866.5:c.1662C>T p.Arg554= p.R554= ENST00000297866 NM_152632.3 554 cgC/cgT 0 Silent C 25 CXorf22 SNP 23 C T 35895718 35895718 Baylor GPR114 221188 hgsc.bcm.edu GRCh37 16 57600565 57600566 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 - - . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000340339.4:c.608dupG p.Trp204LeufsTer4 p.W204Lfs*4 ENST00000340339 NM_153837.1 201 tgg/tGgg 0 Frame_Shift_Ins - 55 GPR114 INS 16 - G 56158067 56158066 Baylor HIVEP1 3096 hgsc.bcm.edu GRCh37 6 12122613 12122613 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000379388.2:c.2585G>A p.Arg862Lys p.R862K ENST00000379388 NM_002114.2 862 aGa/aAa 0 Missense_Mutation G 33 HIVEP1 SNP 6 G A 12230599 12230599 Baylor HNRNPH3 3189 hgsc.bcm.edu GRCh37 10 70101791 70101791 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000265866.7:c.1021G>A p.Gly341Arg p.G341R ENST00000265866 NM_012207.2 341 Gga/Aga 0 Missense_Mutation G 47 HNRNPH3 SNP 10 G A 69771797 69771797 Baylor HOOK3 84376 hgsc.bcm.edu GRCh37 8 42814397 42814397 + synonymous_variant Silent SNP A A C novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000307602.4:c.555A>C p.Leu185= p.L185= ENST00000307602 NM_032410.3 185 ctA/ctC 0 Silent A 13 HOOK3 SNP 8 A C 42933554 42933554 Baylor LRP1B 53353 hgsc.bcm.edu GRCh37 2 141625196 141625196 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 A A A T A A Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000389484.3:c.4542T>A p.Phe1514Leu p.F1514L ENST00000389484 NM_018557.2 1514 ttT/ttA 0 Missense_Mutation A 5 LRP1B SNP 2 A T 141341666 141341666 Baylor MARCO 8685 hgsc.bcm.edu GRCh37 2 119732118 119732118 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000327097.4:c.590C>G p.Pro197Arg p.P197R ENST00000327097 NM_006770.3 197 cCa/cGa 0 Missense_Mutation C 21 MARCO SNP 2 C G 119448588 119448588 Baylor MGAT5 4249 hgsc.bcm.edu GRCh37 2 135075162 135075163 + frameshift_variant Frame_Shift_Del DEL GA GA - novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 GA GA . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000409645.1:c.470_471del p.Glu157GlyfsTer34 p.E157Gfs*34 ENST00000409645 157 GAg/g 0 Frame_Shift_Del GA 45 MGAT5 DEL 2 GA - 134791633 134791632 Baylor MORN1 79906 hgsc.bcm.edu GRCh37 1 2305979 2305979 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000378531.3:c.555C>A p.Asp185Glu p.D185E ENST00000378531 NM_024848.1 185 gaC/gaA 0 Missense_Mutation G 40 MORN1 SNP 1 G T 2295839 2295839 Baylor OR10W1 81341 hgsc.bcm.edu GRCh37 11 58034596 58034596 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000395079.2:c.735C>A p.Cys245Ter p.C245* ENST00000395079 NM_207374.3 245 tgC/tgA 0 Nonsense_Mutation G 34 OR10W1 SNP 11 G T 57791172 57791172 Baylor PAPPA 5069 hgsc.bcm.edu GRCh37 9 119093633 119093633 + synonymous_variant Silent SNP C C A novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000328252.3:c.3258C>A p.Leu1086= p.L1086= ENST00000328252 NM_002581.3 1086 ctC/ctA 0 Silent C 30 PAPPA SNP 9 C A 118133454 118133454 Baylor PFN4 375189 hgsc.bcm.edu GRCh37 2 24345401 24345401 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000313213.4:c.5G>A p.Ser2Asn p.S2N ENST00000313213 NM_199346.1 2 aGc/aAc 0 Missense_Mutation C 28 PFN4 SNP 2 C T 24198905 24198905 Baylor PREP 5550 hgsc.bcm.edu GRCh37 6 105821390 105821390 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000369110.3:c.449G>A p.Trp150Ter p.W150* ENST00000369110 NM_002726.4 150 tGg/tAg 0 Nonsense_Mutation C 21 PREP SNP 6 C T 105928083 105928083 Baylor PSME4 23198 hgsc.bcm.edu GRCh37 2 54093979 54093979 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000404125.1:c.5302G>A p.Ala1768Thr p.A1768T ENST00000404125 NM_014614.2 1768 Gca/Aca 0 Missense_Mutation C 25 PSME4 SNP 2 C T 53947483 53947483 Baylor ROR1 4919 hgsc.bcm.edu GRCh37 1 64515405 64515405 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000371079.1:c.206C>T p.Thr69Met p.T69M ENST00000371079 NM_005012.3 69 aCg/aTg 0 Missense_Mutation C 19 ROR1 SNP 1 C T 64287993 64287993 Baylor STAB2 55576 hgsc.bcm.edu GRCh37 12 104155079 104155079 + missense_variant,splice_region_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000388887.2:c.7250C>T p.Thr2417Met p.T2417M ENST00000388887 NM_017564.9 2417 aCg/aTg 0 Missense_Mutation C 19 STAB2 SNP 12 C T 102679209 102679209 Baylor TMEM132D 121256 hgsc.bcm.edu GRCh37 12 129558549 129558549 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000422113.2:c.3171C>A p.Asp1057Glu p.D1057E ENST00000422113 NM_133448.2 1057 gaC/gaA 0 Missense_Mutation G 40 TMEM132D SNP 12 G T 128124502 128124502 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578556 7578556 + splice_acceptor_variant Splice_Site SNP T T C novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 T T C C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA . . SOLID ENST00000269305.4:c.376-2A>G p.X126_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP T 55 TP53 SNP 17 C C 7519281 7519281 Baylor TRO 7216 hgsc.bcm.edu GRCh37 X 54957066 54957066 + synonymous_variant Silent SNP T T G novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000173898.7:c.3909T>G p.Leu1303= p.L1303= ENST00000173898 NM_001039705.2 1303 ctT/ctG 0 Silent T 63 TRO SNP 23 T G 54973791 54973791 Baylor YIPF1 54432 hgsc.bcm.edu GRCh37 1 54332041 54332041 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000072644.1:c.663C>T p.Ile221= p.I221= ENST00000072644 NM_018982.4 221 atC/atT 0 Silent G 41 YIPF1 SNP 1 G A 54104629 54104629 Baylor ZNF211 10520 hgsc.bcm.edu GRCh37 19 58153101 58153101 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA . . SOLID ENST00000299871.5:c.1442G>A p.Arg481Gln p.R481Q ENST00000299871 NM_001265597.1 481 cGg/cAg 0 Missense_Mutation G 39 ZNF211 SNP 19 G A 62844913 62844913 Baylor ZNF333 84449 hgsc.bcm.edu GRCh37 19 14828502 14828502 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1514-01 TCGA-04-1514-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000292530.6:c.857G>C p.Ser286Thr p.S286T ENST00000292530 NM_032433.2 286 aGc/aCc 0 Missense_Mutation G 34 ZNF333 SNP 19 G C 14689502 14689502 Baylor ABCA1 19 hgsc.bcm.edu GRCh37 9 107576738 107576738 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000374736.3:c.3757G>A p.Glu1253Lys p.E1253K ENST00000374736 NM_005502.3 1253 Gaa/Aaa 0 Missense_Mutation C 31 ABCA1 SNP 9 C T 106616559 106616559 Baylor ABHD14A 25864 hgsc.bcm.edu GRCh37 3 52014486 52014486 + missense_variant Missense_Mutation SNP G G A rs3204679 Unknown TCGA-25-1635-01 TCGA-25-1635-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000273596.3:c.475G>A p.Asp159Asn p.D159N ENST00000273596 NM_015407.4 159 Gac/Aac 0 Missense_Mutation G 41 ABHD14A SNP 3 G A 51989526 51989526 Baylor ACRC 93953 hgsc.bcm.edu GRCh37 X 70832272 70832272 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000373695.1:c.1818T>C p.His606= p.H606= ENST00000373695 606 caT/caC 0 Silent T 51 ACRC SNP 23 T C 70748997 70748997 Baylor CAD 790 hgsc.bcm.edu GRCh37 2 27457483 27457483 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000264705.4:c.3716C>T p.Thr1239Met p.T1239M ENST00000264705 NM_004341.3 1239 aCg/aTg 0 Missense_Mutation C 19 CAD SNP 2 C T 27310987 27310987 Baylor CIZ1 25792 hgsc.bcm.edu GRCh37 9 130947857 130947857 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393608.1:c.557G>A p.Arg186Gln p.R186Q ENST00000393608 NM_012127.2 186 cGg/cAg 0 Missense_Mutation C 23 CIZ1 SNP 9 C T 129987678 129987678 Baylor DSC3 1825 hgsc.bcm.edu GRCh37 18 28581615 28581615 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000360428.4:c.2204C>T p.Ser735Leu p.S735L ENST00000360428 NM_001941.3 735 tCa/tTa 0 Missense_Mutation G 45 DSC3 SNP 18 G A 26835613 26835613 Baylor EML1 2009 hgsc.bcm.edu GRCh37 14 100341316 100341316 + synonymous_variant Silent SNP G G A novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000334192.4:c.432G>A p.Ser144= p.S144= ENST00000334192 NM_001008707.1 144 tcG/tcA 0 Silent G 37 EML1 SNP 14 G A 99411069 99411069 Baylor HMCN1 83872 hgsc.bcm.edu GRCh37 1 186008994 186008994 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000271588.4:c.6163T>G p.Phe2055Val p.F2055V ENST00000271588 NM_031935.2 2055 Ttt/Gtt 0 Missense_Mutation T 64 HMCN1 SNP 1 T G 184275617 184275617 Baylor ICAM3 3385 hgsc.bcm.edu GRCh37 19 10450218 10450218 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000160262.5:c.73C>T p.Pro25Ser p.P25S ENST00000160262 NM_002162.3 25 Cca/Tca 0 Missense_Mutation G 43 ICAM3 SNP 19 G A 10311218 10311218 Baylor IGSF10 285313 hgsc.bcm.edu GRCh37 3 151155721 151155721 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000282466.3:c.6628G>A p.Glu2210Lys p.E2210K ENST00000282466 NM_178822.4 2210 Gag/Aag 0 Missense_Mutation C 32 IGSF10 SNP 3 C T 152638411 152638411 Baylor KIAA1324L 222223 hgsc.bcm.edu GRCh37 7 86542379 86542379 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000450689.2:c.1873C>T p.His625Tyr p.H625Y ENST00000450689 NM_001142749.2 625 Cac/Tac 0 Missense_Mutation G 47 KIAA1324L SNP 7 G A 86380315 86380315 Baylor RARG 5916 hgsc.bcm.edu GRCh37 12 53621310 53621310 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000425354.2:c.20G>A p.Arg7Gln p.R7Q ENST00000425354 NM_000966.5 7 cGa/cAa 0 Missense_Mutation C 31 RARG SNP 12 C T 51907577 51907577 Baylor RB1 5925 hgsc.bcm.edu GRCh37 13 48951053 48951053 + splice_acceptor_variant Splice_Site SNP G G C novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000267163.4:c.1216-1G>C p.X406_splice ENST00000267163 NM_000321.2 0 Splice_Site_SNP G 33 RB1 SNP 13 G C 47849054 47849054 Baylor SALL1 6299 hgsc.bcm.edu GRCh37 16 51173556 51173556 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000251020.4:c.2577G>C p.Glu859Asp p.E859D ENST00000251020 NM_002968.2 859 gaG/gaC 0 Missense_Mutation C 32 SALL1 SNP 16 C G 49731057 49731057 Baylor SLC12A5 57468 hgsc.bcm.edu GRCh37 20 44674980 44674980 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000454036.2:c.1761C>G p.Phe587Leu p.F587L ENST00000454036 NM_001134771.1 587 ttC/ttG 0 Missense_Mutation C 32 SLC12A5 SNP 20 C G 44108387 44108387 Baylor STAG2 10735 hgsc.bcm.edu GRCh37 X 123220410 123220410 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000218089.9:c.3067G>T p.Glu1023Ter p.E1023* ENST00000218089 NM_001042749.1 1023 Gaa/Taa 0 Nonsense_Mutation G 41 STAG2 SNP 23 G T 123048091 123048091 Baylor TLR7 51284 hgsc.bcm.edu GRCh37 X 12904346 12904346 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000380659.3:c.719T>C p.Ile240Thr p.I240T ENST00000380659 NM_016562.3 240 aTc/aCc 0 Missense_Mutation T 50 TLR7 SNP 23 T C 12814267 12814267 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7577506 7577506 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.775G>T p.Asp259Tyr p.D259Y ENST00000269305 NM_001126112.2 259 Gac/Tac 0 Missense_Mutation C 32 TP53 SNP 17 C A 7518231 7518231 Baylor TTC39C 125488 hgsc.bcm.edu GRCh37 18 21660800 21660800 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000317571.3:c.712C>T p.Leu238Phe p.L238F ENST00000317571 NM_001135993.1 238 Ctc/Ttc 0 Missense_Mutation C 28 TTC39C SNP 18 C T 19914798 19914798 Baylor ZBTB11 27107 hgsc.bcm.edu GRCh37 3 101370393 101370393 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1635-01 TCGA-25-1635-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000312938.4:c.2779C>T p.Arg927Ter p.R927* ENST00000312938 NM_014415.3 927 Cga/Tga 0 Nonsense_Mutation G 37 ZBTB11 SNP 3 G A 102853083 102853083 Baylor ADAMTS4 9507 hgsc.bcm.edu GRCh37 1 161161089 161161089 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000367996.5:c.2353G>C p.Val785Leu p.V785L ENST00000367996 NM_005099.4 785 Gtc/Ctc 0 Missense_Mutation C 20 ADAMTS4 SNP 1 C G 159427713 159427713 Baylor AMPD2 271 hgsc.bcm.edu GRCh37 1 110168805 110168805 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000256578.3:c.539G>A p.Arg180Gln p.R180Q ENST00000256578 NM_004037.7 180 cGg/cAg 0 Missense_Mutation G 39 AMPD2 SNP 1 G A 109970328 109970328 Baylor ANG 283 hgsc.bcm.edu GRCh37 14 21161845 21161845 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000336811.6:c.122A>T p.Lys41Ile p.K41I ENST00000336811 NM_001145.4 41 aAa/aTa 0 Missense_Mutation A 1 ANG SNP 14 A T 20231685 20231685 Baylor BRCA1 672 hgsc.bcm.edu GRCh37 17 41256234 41256234 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357654.3:c.346G>T p.Glu116Ter p.E116* ENST00000357654 NM_007294.3 116 Gaa/Taa 0 Nonsense_Mutation C 29 BRCA1 SNP 17 C A 38509760 38509760 Baylor EDRF1 26098 hgsc.bcm.edu GRCh37 10 127434285 127434285 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000356792.4:c.2600C>G p.Ser867Cys p.S867C ENST00000356792 NM_001202438.1 867 tCt/tGt 0 Missense_Mutation C 32 C10orf137 SNP 10 C G 127424275 127424275 Baylor MB21D2 151963 hgsc.bcm.edu GRCh37 3 192517164 192517164 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000392452.2:c.487G>C p.Asp163His p.D163H ENST00000392452 NM_178496.3 163 Gac/Cac 0 Missense_Mutation C 32 C3orf59 SNP 3 C G 193999858 193999858 Baylor MLIP 90523 hgsc.bcm.edu GRCh37 6 54067033 54067033 + splice_donor_variant Splice_Site SNP T T C novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000274897.5:c.1113+2T>C p.X371_splice ENST00000274897 NM_138569.2 0 Splice_Site_SNP T 59 C6orf142 SNP 6 T C 54174992 54174992 Baylor CES5A 221223 hgsc.bcm.edu GRCh37 16 55895428 55895428 + missense_variant,splice_region_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000521992.1:c.898C>A p.Leu300Met p.L300M ENST00000521992 NM_001190158.1 300 Ctg/Atg 0 Missense_Mutation G 34 CES7 SNP 16 G T 54452929 54452929 Baylor COL6A3 1293 hgsc.bcm.edu GRCh37 2 238249614 238249614 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295550.4:c.7945C>G p.Leu2649Val p.L2649V ENST00000295550 NM_004369.3 2649 Ctg/Gtg 0 Missense_Mutation G 36 COL6A3 SNP 2 G C 237914353 237914353 Baylor COL9A1 1297 hgsc.bcm.edu GRCh37 6 71003931 71003931 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000357250.6:c.635T>C p.Ile212Thr p.I212T ENST00000357250 NM_001851.4 212 aTt/aCt 0 Missense_Mutation A 4 COL9A1 SNP 6 A G 71060652 71060652 Baylor FBN3 84467 hgsc.bcm.edu GRCh37 19 8200925 8200925 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000600128.1:c.1511G>T p.Arg504Leu p.R504L ENST00000600128 504 cGc/cTc 0 Missense_Mutation C 27 FBN3 SNP 19 C A 8106925 8106925 Baylor FRG1 2483 hgsc.bcm.edu GRCh37 4 190862200 190862200 + synonymous_variant Silent SNP C C T novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000226798.4:c.36C>T p.Leu12= p.L12= ENST00000226798 NM_004477.2 12 ctC/ctT 0 Silent C 31 FRG1 SNP 4 C T 191099194 191099194 Baylor HEXA 3073 hgsc.bcm.edu GRCh37 15 72640437 72640437 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000268097.5:c.1025A>G p.Lys342Arg p.K342R ENST00000268097 NM_000520.4 342 aAa/aGa 0 Missense_Mutation T 64 HEXA SNP 15 T C 70427491 70427491 Baylor ILVBL 10994 hgsc.bcm.edu GRCh37 19 15228699 15228699 + synonymous_variant Silent SNP A A T novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000263383.3:c.1179T>A p.Ala393= p.A393= ENST00000263383 NM_006844.4 393 gcT/gcA 0 Silent A 7 ILVBL SNP 19 A T 15089699 15089699 Baylor IPO5 3843 hgsc.bcm.edu GRCh37 13 98652846 98652846 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000261574.5:c.1109G>T p.Gly370Val p.G370V ENST00000261574 NM_002271.4 370 gGa/gTa 0 Missense_Mutation G 41 IPO5 SNP 13 G T 97450847 97450847 Baylor KCNJ1 3758 hgsc.bcm.edu GRCh37 11 128709361 128709361 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000392664.2:c.835T>A p.Phe279Ile p.F279I ENST00000392664 NM_000220.4 279 Ttc/Atc 0 Missense_Mutation A 3 KCNJ1 SNP 11 A T 128214571 128214571 Baylor KCTD14 65987 hgsc.bcm.edu GRCh37 11 77727790 77727790 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000353172.5:c.617C>T p.Ala206Val p.A206V ENST00000353172 NM_023930.3 206 gCg/gTg 0 Missense_Mutation G 38 KCTD14 SNP 11 G A 77405438 77405438 Baylor KIT 3815 hgsc.bcm.edu GRCh37 4 55593644 55593644 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000288135.5:c.1710C>A p.Tyr570Ter p.Y570* ENST00000288135 NM_000222.2 570 taC/taA 0 Nonsense_Mutation C 17 KIT SNP 4 C A 55288401 55288401 Baylor MPI 4351 hgsc.bcm.edu GRCh37 15 75188494 75188494 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000352410.4:c.672G>A p.Ala224= p.A224= ENST00000352410 224 gcG/gcA 0 Silent G 39 MPI SNP 15 G A 72975547 72975547 Baylor NAE1 8883 hgsc.bcm.edu GRCh37 16 66842915 66842915 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000290810.3:c.1214A>C p.Asp405Ala p.D405A ENST00000290810 405 gAt/gCt 0 Missense_Mutation T 50 NAE1 SNP 16 T G 65400416 65400416 Baylor NFKB1 4790 hgsc.bcm.edu GRCh37 4 103505915 103505915 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000226574.4:c.1004G>A p.Arg335Gln p.R335Q ENST00000226574 NM_003998.3 335 cGg/cAg 0 Missense_Mutation G 39 NFKB1 SNP 4 G A 103724953 103724953 Baylor OR1E2 8388 hgsc.bcm.edu GRCh37 17 3336793 3336793 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000248384.1:c.343del p.Val116TrpfsTer30 p.V116Wfs*30 ENST00000248384 NM_003554.1 115 Ctt/tt 0 Frame_Shift_Del G 35 OR1E2 DEL 17 G - 3283543 3283543 Baylor OR2W1 26692 hgsc.bcm.edu GRCh37 6 29012166 29012166 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000377175.1:c.787G>T p.Gly263Cys p.G263C ENST00000377175 NM_030903.3 263 Ggt/Tgt 0 Missense_Mutation C 24 OR2W1 SNP 6 C A 29120145 29120145 Baylor OTOF 9381 hgsc.bcm.edu GRCh37 2 26683564 26683564 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000272371.2:c.5764A>G p.Asn1922Asp p.N1922D ENST00000272371 NM_194248.2 1922 Aac/Gac 0 Missense_Mutation T 62 OTOF SNP 2 T C 26537068 26537068 Baylor OTOF 9381 hgsc.bcm.edu GRCh37 2 26683749 26683749 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000272371.2:c.5683C>T p.Arg1895Cys p.R1895C ENST00000272371 NM_194248.2 1895 Cgc/Tgc 0 Missense_Mutation G 39 OTOF SNP 2 G A 26537253 26537253 Baylor PCOLCE 5118 hgsc.bcm.edu GRCh37 7 100205413 100205414 + frameshift_variant Frame_Shift_Ins INS - - C novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 - - . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000223061.5:c.1173dupC p.Met392HisfsTer81 p.M392Hfs*81 ENST00000223061 NM_002593.3 389 tgc/tgCc 0 Frame_Shift_Ins - 46 PCOLCE INS 7 - C 100043350 100043349 Baylor PREX2 80243 hgsc.bcm.edu GRCh37 8 69005891 69005891 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000288368.4:c.2302C>A p.Leu768Ile p.L768I ENST00000288368 NM_024870.2 768 Ctt/Att 0 Missense_Mutation C 24 PREX2 SNP 8 C A 69168445 69168445 Baylor RENBP 5973 hgsc.bcm.edu GRCh37 X 153205628 153205628 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 A A . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000393700.3:c.1004T>C p.Met335Thr p.M335T ENST00000393700 NM_002910.5 335 aTg/aCg 0 Missense_Mutation A 8 RENBP SNP 23 A G 152858822 152858822 Baylor SAMD9L 219285 hgsc.bcm.edu GRCh37 7 92763520 92763520 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000318238.4:c.1765C>T p.Arg589Ter p.R589* ENST00000318238 NM_152703.2 589 Cga/Tga 0 Nonsense_Mutation G 40 SAMD9L SNP 7 G A 92601456 92601456 Baylor SLC4A7 9497 hgsc.bcm.edu GRCh37 3 27498166 27498166 + synonymous_variant Silent SNP T T C novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 T T . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000295736.5:c.9A>G p.Arg3= p.R3= ENST00000295736 NM_003615.4 3 agA/agG 0 Silent T 50 SLC4A7 SNP 3 T C 27473170 27473170 Baylor SLIT3 6586 hgsc.bcm.edu GRCh37 5 168111062 168111062 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000519560.1:c.3595G>T p.Gly1199Ter p.G1199* ENST00000519560 NM_003062.3 1199 Gga/Tga 0 Nonsense_Mutation C 24 SLIT3 SNP 5 C A 168043640 168043640 Baylor SRRM2 23524 hgsc.bcm.edu GRCh37 16 2813120 2813120 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000301740.8:c.2591C>T p.Ser864Phe p.S864F ENST00000301740 NM_016333.3 864 tCt/tTt 0 Missense_Mutation C 32 SRRM2 SNP 16 C T 2753121 2753121 Baylor TMPRSS11B 132724 hgsc.bcm.edu GRCh37 4 69096980 69096980 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 G G . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000332644.5:c.627C>A p.Tyr209Ter p.Y209* ENST00000332644 NM_182502.3 209 taC/taA 0 Nonsense_Mutation G 36 TMPRSS11B SNP 4 G T 68779575 68779575 Baylor TP53 7157 hgsc.bcm.edu GRCh37 17 7578203 7578203 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-25-1625-01 TCGA-25-1625-10 C C . . . . Unknown Unknown Somatic Phase_III Capture Unknown . . SOLID ENST00000269305.4:c.646G>A p.Val216Met p.V216M ENST00000269305 NM_001126112.2 216 Gtg/Atg 0 Missense_Mutation C 17 TP53 SNP 17 C T 7518928 7518928 Baylor ACTRT2 140625 broad.mit.edu GRCh37 1 2939049 2939049 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000378404.2:c.799C>G p.Gln267Glu p.Q267E ENST00000378404 NM_080431.4 267 Cag/Gag 0 Missense_Mutation C 21 ACTRT2 SNP 1 C G 2928909 2928909 Broad TP73-AS1 57212 broad.mit.edu GRCh37 1 3662744 3662744 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000452079.1:n.1143C>T *381* ENST00000452079 0 Silent G 39 KIAA0495 SNP 1 G A 3652604 3652604 Broad CLCNKB 1188 broad.mit.edu GRCh37 1 16378692 16378692 + splice_acceptor_variant Splice_Site SNP G G A novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000375679.4:c.1409-1G>A p.X470_splice ENST00000375679 NM_000085.4 0 Splice_Site_SNP G 35 CLCNKB SNP 1 G A 16251279 16251279 Broad AGBL4 84871 broad.mit.edu GRCh37 1 49511278 49511278 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000371839.1:c.572G>A p.Arg191Gln p.R191Q ENST00000371839 NM_032785.3 191 cGg/cAg 0 Missense_Mutation C 23 AGBL4 SNP 1 C T 49283865 49283865 Broad ZYG11B 79699 broad.mit.edu GRCh37 1 53267785 53267785 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000294353.6:c.1669A>T p.Ile557Phe p.I557F ENST00000294353 NM_024646.2 557 Att/Ttt 0 Missense_Mutation A 8 ZYG11B SNP 1 A T 53040373 53040373 Broad INADL 10207 broad.mit.edu GRCh37 1 62228765 62228765 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000371158.2:c.103T>C p.Leu35= p.L35= ENST00000371158 NM_176877.2 35 Tta/Cta 0 Silent T 60 INADL SNP 1 T C 62001353 62001353 Broad UAP1 6675 broad.mit.edu GRCh37 1 162546747 162546747 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000367926.4:c.461A>G p.Tyr154Cys p.Y154C ENST00000367926 NM_003115.4 154 tAt/tGt 0 Missense_Mutation A 16 UAP1 SNP 1 A G 160813371 160813371 Broad CFHR3 10878 broad.mit.edu GRCh37 1 196759356 196759356 + splice_region_variant,synonymous_variant Splice_Region SNP A A T novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000367425.4:c.795A>T p.Ile265= p.I265= ENST00000367425 NM_021023.5 265 atA/atT 0 Silent A 14 CFHR3 SNP 1 A T 195025979 195025979 Broad NEURL1 9148 broad.mit.edu GRCh37 10 105344923 105344923 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000369780.4:c.1280C>T p.Ser427Leu p.S427L ENST00000369780 NM_004210.4 427 tCg/tTg 0 Missense_Mutation C 31 NEURL SNP 10 C T 105334913 105334913 Broad PDCD4 27250 broad.mit.edu GRCh37 10 112641175 112641175 + synonymous_variant Silent SNP G G T novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000280154.7:c.228G>T p.Ser76= p.S76= ENST00000280154 NM_014456.4 76 tcG/tcT 0 Silent G 39 PDCD4 SNP 10 G T 112631165 112631165 Broad OR51T1 401665 broad.mit.edu GRCh37 11 4903555 4903555 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000380378.1:c.507G>A p.Met169Ile p.M169I ENST00000380378 NM_001004759.1 169 atG/atA 0 Missense_Mutation G 47 OR51T1 SNP 11 G A 4860131 4860131 Broad KIF18A 81930 broad.mit.edu GRCh37 11 28056981 28056981 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000263181.6:c.2457C>T p.Ser819= p.S819= ENST00000263181 NM_031217.3 819 tcC/tcT 0 Silent G 35 KIF18A SNP 11 G A 28013557 28013557 Broad NADSYN1 55191 broad.mit.edu GRCh37 11 71201976 71201976 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000319023.2:c.1648T>A p.Phe550Ile p.F550I ENST00000319023 NM_018161.4 550 Ttc/Atc 0 Missense_Mutation T 56 NADSYN1 SNP 11 T A 70879624 70879624 Broad ACSM4 341392 broad.mit.edu GRCh37 12 7457110 7457110 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000399422.4:c.183G>A p.Gln61= p.Q61= ENST00000399422 NM_001080454.1 61 caG/caA 0 Silent G 36 ACSM4 SNP 12 G A 7348377 7348377 Broad SOX5 6660 broad.mit.edu GRCh37 12 23716277 23716277 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000451604.2:c.1403A>C p.Glu468Ala p.E468A ENST00000451604 468 gAg/gCg 0 Missense_Mutation T 54 SOX5 SNP 12 T G 23607544 23607544 Broad AMDHD1 144193 broad.mit.edu GRCh37 12 96354201 96354201 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000266736.2:c.613G>T p.Asp205Tyr p.D205Y ENST00000266736 NM_152435.2 205 Gat/Tat 0 Missense_Mutation G 45 AMDHD1 SNP 12 G T 94878332 94878332 Broad TBX3 6926 broad.mit.edu GRCh37 12 115114271 115114271 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000257566.3:c.946C>G p.Gln316Glu p.Q316E ENST00000257566 NM_016569.3 316 Cag/Gag 0 Missense_Mutation G 48 TBX3 SNP 12 G C 113598654 113598654 Broad COL4A1 1282 broad.mit.edu GRCh37 13 110831691 110831691 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000375820.4:c.2271G>C p.Lys757Asn p.K757N ENST00000375820 NM_001845.4 757 aaG/aaC 0 Missense_Mutation C 24 COL4A1 SNP 13 C G 109629692 109629692 Broad ARHGEF40 55701 broad.mit.edu GRCh37 14 21547122 21547122 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000298694.4:c.2326C>A p.His776Asn p.H776N ENST00000298694 NM_001278529.1 776 Cac/Aac 0 Missense_Mutation C 25 FLJ10357 SNP 14 C A 20616962 20616962 Broad SLC25A29 123096 broad.mit.edu GRCh37 14 100759630 100759630 + splice_donor_variant Splice_Site SNP C C A novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000359232.3:c.162+1G>T p.X54_splice ENST00000359232 NM_001039355.1 0 Splice_Site_SNP C 19 SLC25A29 SNP 14 C A 99829383 99829383 Broad HERC2 8924 broad.mit.edu GRCh37 15 28408371 28408371 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000261609.7:c.10615A>T p.Ser3539Cys p.S3539C ENST00000261609 NM_004667.5 3539 Agt/Tgt 0 Missense_Mutation T 55 HERC2 SNP 15 T A 26081966 26081966 Broad CASC4 113201 broad.mit.edu GRCh37 15 44673004 44673004 + missense_variant,splice_region_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000299957.6:c.902A>G p.Asp301Gly p.D301G ENST00000299957 NM_138423.3 301 gAt/gGt 0 Missense_Mutation A 12 CASC4 SNP 15 A G 42460296 42460296 Broad FAHD1 81889 broad.mit.edu GRCh37 16 1877886 1877887 + intron_variant Intron DNP TG TG CT novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000382666.4:c.636+20_636+21delinsCT *212* ENST00000382666 NM_001018104.2 0 Missense_Mutation TG 59 FAHD1 DNP 16 TG CT 1817888 1817887 Broad PDP2 57546 broad.mit.edu GRCh37 16 66919156 66919156 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000311765.2:c.969G>A p.Glu323= p.E323= ENST00000311765 NM_020786.2 323 gaG/gaA 0 Silent G 34 PDP2 SNP 16 G A 65476657 65476657 Broad TP53 7157 broad.mit.edu GRCh37 17 7577548 7577548 + missense_variant Missense_Mutation SNP C C G rs28934575 Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000269305.4:c.733G>C p.Gly245Arg p.G245R ENST00000269305 NM_001126112.2 245 Ggc/Cgc 0 Missense_Mutation C 23 TP53 SNP 17 C G 7518273 7518273 Broad KRT24 192666 broad.mit.edu GRCh37 17 38857520 38857520 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000264651.2:c.727A>G p.Ser243Gly p.S243G ENST00000264651 NM_019016.2 243 Agc/Ggc 0 Missense_Mutation T 54 KRT24 SNP 17 T C 36111046 36111046 Broad HEATR6 63897 broad.mit.edu GRCh37 17 58121135 58121135 + stop_gained Nonsense_Mutation SNP G G C novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000184956.6:c.3335C>G p.Ser1112Ter p.S1112* ENST00000184956 NM_022070.4 1112 tCa/tGa 0 Nonsense_Mutation G 45 HEATR6 SNP 17 G C 55475917 55475917 Broad SLC39A11 201266 broad.mit.edu GRCh37 17 70645400 70645400 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000542342.2:c.700G>C p.Ala234Pro p.A234P ENST00000542342 NM_001159770.1 234 Gcc/Ccc 0 Missense_Mutation C 26 SLC39A11 SNP 17 C G 68156995 68156995 Broad ATP8B1 5205 broad.mit.edu GRCh37 18 55328437 55328437 + synonymous_variant Silent SNP T T C novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000536015.1:c.2676A>G p.Gly892= p.G892= ENST00000536015 NM_005603.4 892 ggA/ggG 0 Silent T 54 ATP8B1 SNP 18 T C 53479435 53479435 Broad ZNF407 55628 broad.mit.edu GRCh37 18 72775178 72775178 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000299687.5:c.5501T>A p.Phe1834Tyr p.F1834Y ENST00000299687 NM_017757.2 1834 tTc/tAc 0 Missense_Mutation T 62 ZNF407 SNP 18 T A 70904166 70904166 Broad ZNF236 7776 broad.mit.edu GRCh37 18 74672732 74672732 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000253159.8:c.5334C>A p.Tyr1778Ter p.Y1778* ENST00000253159 NM_007345.3 1778 taC/taA 0 Nonsense_Mutation C 17 ZNF236 SNP 18 C A 72801720 72801720 Broad ARID3A 1820 broad.mit.edu GRCh37 19 968497 968497 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000263620.3:c.1588T>G p.Tyr530Asp p.Y530D ENST00000263620 NM_005224.2 530 Tac/Gac 0 Missense_Mutation T 57 ARID3A SNP 19 T G 919497 919497 Broad FCGBP 8857 broad.mit.edu GRCh37 19 40398441 40398442 + missense_variant Missense_Mutation DNP CG CG AT novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000221347.6:c.6525_6526delinsAT p.Asp2176Tyr p.D2176Y ENST00000221347 NM_003890.2 2175 gcCGac/gcATac 0 Missense_Mutation CG 31 FCGBP DNP 19 CG AT 45090282 45090281 Broad MOV10L1 54456 broad.mit.edu GRCh37 22 50555736 50555736 + synonymous_variant Silent SNP G G A novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000262794.5:c.1410G>A p.Ala470= p.A470= ENST00000262794 NM_018995.2 470 gcG/gcA 0 Silent G 40 MOV10L1 SNP 22 G A 48897863 48897863 Broad PCDHA3 56145 broad.mit.edu GRCh37 5 140182630 140182630 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000522353.2:c.1848C>T p.Gly616= p.G616= ENST00000522353 NM_018906.2 616 ggC/ggT 0 Silent C 27 PCDHA3 SNP 5 C T 140162814 140162814 Broad PCDHB7 56129 broad.mit.edu GRCh37 5 140553042 140553042 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000231137.3:c.626G>A p.Ser209Asn p.S209N ENST00000231137 NM_018940.2 209 aGt/aAt 0 Missense_Mutation G 36 PCDHB7 SNP 5 G A 140533226 140533226 Broad NOD1 10392 broad.mit.edu GRCh37 7 30491300 30491300 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000222823.4:c.1733T>C p.Leu578Pro p.L578P ENST00000222823 NM_006092.2 578 cTc/cCc 0 Missense_Mutation A 11 NOD1 SNP 7 A G 30457825 30457825 Broad CREB3L2 64764 broad.mit.edu GRCh37 7 137569784 137569784 + synonymous_variant Silent SNP C C T novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000330387.6:c.1227G>A p.Leu409= p.L409= ENST00000330387 NM_194071.3 409 ctG/ctA 0 Silent C 25 CREB3L2 SNP 7 C T 137220324 137220324 Broad MMP16 4325 broad.mit.edu GRCh37 8 89053814 89053814 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000286614.6:c.1699A>G p.Ile567Val p.I567V ENST00000286614 NM_005941.4 567 Att/Gtt 0 Missense_Mutation T 49 MMP16 SNP 8 T C 89122930 89122930 Broad SLC6A14 11254 broad.mit.edu GRCh37 X 115582751 115582751 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000371900.4:c.1075G>T p.Val359Leu p.V359L ENST00000371900 NM_007231.3 359 Gtg/Ttg 0 Missense_Mutation G 40 SLC6A14 SNP 23 G T 115496779 115496779 Broad TENM1 10178 broad.mit.edu GRCh37 X 123787438 123787438 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown x x x ENST00000422452.2:c.1364C>A p.Thr455Asn p.T455N ENST00000422452 NM_001163279.1 455 aCt/aAt 0 Missense_Mutation G 36 ODZ1 SNP 23 G T 123615119 123615119 Broad PRAMEF18 391003 broad.mit.edu GRCh37 1 13475115 13475125 + frameshift_variant Frame_Shift_Del DEL CTCAAGACGGA CTCAAGACGGA - novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000376126.2:c.1004_1014del p.Ile335ThrfsTer50 p.I335Tfs*50 ENST00000376126 NM_001099850.1 335 aTCCGTCTTGAG/a 0 Frame_Shift_Del CTCAAGACGGA 28 PRAMEF19 DEL 1 - CTCAAGACGGA 13347712 13347702 Broad SSTR1 6751 broad.mit.edu GRCh37 14 38679480 38679480 + frameshift_variant Frame_Shift_Del DEL T T - novel Unknown TCGA-61-1736-01 TCGA-61-1736-11 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000267377.2:c.888del p.Phe296LeufsTer9 p.F296Lfs*9 ENST00000267377 NM_001049.2 296 Ttt/tt 0 Frame_Shift_Del T 60 SSTR1 DEL 14 - T 37749231 37749231 Broad CREBBP 1387 genome.wustl.edu GRCh37 16 3790520 3790520 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262367.5:c.4013T>C p.Leu1338Ser p.L1338S ENST00000262367 NM_004380.2 1338 tTg/tCg 0 Missense_Mutation A 5 CREBBP SNP 16 A G 3730521 3730521 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577547 7577547 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.734G>T p.Gly245Val p.G245V ENST00000269305 NM_001126112.2 245 gGc/gTc 0 Missense_Mutation C 26 TP53 SNP 17 C A 7518272 7518272 WashU CHERP 10523 genome.wustl.edu GRCh37 19 16638986 16638986 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000546361.2:c.1210G>A p.Gly404Ser p.G404S ENST00000546361 NM_006387.5 404 Ggc/Agc 0 Missense_Mutation C 23 CHERP SNP 19 T T 16499986 16499986 WashU LZTR1 8216 genome.wustl.edu GRCh37 22 21340180 21340180 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000215739.8:c.314G>T p.Trp105Leu p.W105L ENST00000215739 NM_006767.3 105 tGg/tTg 0 Missense_Mutation G 47 LZTR1 SNP 22 G T 19670180 19670180 WashU TWISTNB 221830 genome.wustl.edu GRCh37 7 19738009 19738009 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000222567.5:c.947G>C p.Ser316Thr p.S316T ENST00000222567 NM_001002926.1 316 aGt/aCt 0 Missense_Mutation C 20 TWISTNB SNP 7 C G 19704534 19704534 WashU HERC2 8924 genome.wustl.edu GRCh37 15 28511071 28511071 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261609.7:c.1648G>A p.Gly550Arg p.G550R ENST00000261609 NM_004667.5 550 Ggg/Agg 0 Missense_Mutation C 23 HERC2 SNP 15 C T 26184666 26184666 WashU CCDC73 493860 genome.wustl.edu GRCh37 11 32636229 32636229 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000335185.5:c.1635A>C p.Ile545= p.I545= ENST00000335185 NM_001008391.3 545 atA/atC 0 Silent T 53 CCDC73 SNP 11 T G 32592805 32592805 WashU NBEA 26960 genome.wustl.edu GRCh37 13 35615294 35615294 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400445.3:c.519G>A p.Met173Ile p.M173I ENST00000400445 NM_015678.4 173 atG/atA 0 Missense_Mutation G 45 NBEA SNP 13 A A 34513294 34513294 WashU ARPP21 10777 genome.wustl.edu GRCh37 3 35770914 35770914 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000458225.1:c.1243C>T p.Pro415Ser p.P415S ENST00000458225 415 Cca/Tca 0 Missense_Mutation C 30 ARPP-21 SNP 3 C T 35745918 35745918 WashU N4BP2 55728 genome.wustl.edu GRCh37 4 40124773 40124773 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261435.6:c.4225G>A p.Val1409Ile p.V1409I ENST00000261435 NM_018177.4 1409 Gtt/Att 0 Missense_Mutation G 44 N4BP2 SNP 4 G A 39801168 39801168 WashU MYO5C 55930 genome.wustl.edu GRCh37 15 52571812 52571812 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261839.7:c.198C>T p.Leu66= p.L66= ENST00000261839 NM_018728.3 66 ctC/ctT 0 Silent G 37 MYO5C SNP 15 G A 50359104 50359104 WashU CBLN4 140689 genome.wustl.edu GRCh37 20 54573714 54573714 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000064571.2:c.505C>A p.Leu169Ile p.L169I ENST00000064571 NM_080617.5 169 Cta/Ata 0 Missense_Mutation G 35 CBLN4 SNP 20 G T 54007121 54007121 WashU DIAPH3 81624 genome.wustl.edu GRCh37 13 60407279 60407279 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400324.4:c.2989T>A p.Phe997Ile p.F997I ENST00000400324 NM_001042517.1 997 Ttt/Att 0 Missense_Mutation A 3 DIAPH3 SNP 13 A T 59305280 59305280 WashU PLA2G16 11145 genome.wustl.edu GRCh37 11 63357675 63357675 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000323646.5:c.284G>A p.Arg95Gln p.R95Q ENST00000323646 NM_007069.3 95 cGg/cAg 0 Missense_Mutation C 23 PLA2G16 SNP 11 C T 63114251 63114251 WashU ASB12 142689 genome.wustl.edu GRCh37 X 63445259 63445259 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000362002.2:c.272T>A p.Val91Asp p.V91D ENST00000362002 NM_130388.3 91 gTc/gAc 0 Missense_Mutation A 10 ASB12 SNP 23 A T 63361984 63361984 WashU TET1 80312 genome.wustl.edu GRCh37 10 70446178 70446178 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373644.4:c.5118T>A p.His1706Gln p.H1706Q ENST00000373644 NM_030625.2 1706 caT/caA 0 Missense_Mutation T 51 TET1 SNP 10 T A 70116184 70116184 WashU LRRC7 57554 genome.wustl.edu GRCh37 1 70504682 70504682 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000035383.5:c.3061G>T p.Ala1021Ser p.A1021S ENST00000035383 NM_020794.2 1021 Gct/Tct 0 Missense_Mutation G 34 LRRC7 SNP 1 G T 70277270 70277270 WashU DNM1P33 554175 genome.wustl.edu GRCh37 15 74356050 74356050 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000565222.1:n.194G>A *65* ENST00000565222 0 Silent G 39 DNM1P33 SNP 15 G A 72143103 72143103 WashU ZNF236 7776 genome.wustl.edu GRCh37 18 74671772 74671772 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253159.8:c.5236G>A p.Gly1746Arg p.G1746R ENST00000253159 NM_007345.3 1746 Ggg/Agg 0 Missense_Mutation G 35 ZNF236 SNP 18 A A 72800760 72800760 WashU DNM1P34 729809 genome.wustl.edu GRCh37 15 75594056 75594056 + non_coding_transcript_exon_variant RNA SNP C C T novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000567292.1:n.514G>A *172* ENST00000567292 0 Silent C 23 DNM1P34 SNP 15 C T 73381109 73381109 WashU ADNP2 22850 genome.wustl.edu GRCh37 18 77895899 77895899 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262198.4:c.2603G>T p.Gly868Val p.G868V ENST00000262198 NM_014913.3 868 gGg/gTg 0 Missense_Mutation G 43 ADNP2 SNP 18 T T 75996890 75996890 WashU LRRK1 79705 genome.wustl.edu GRCh37 15 101566320 101566320 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000388948.3:c.2383G>A p.Asp795Asn p.D795N ENST00000388948 NM_024652.3 795 Gac/Aac 0 Missense_Mutation G 33 LRRK1 SNP 15 G A 99383843 99383843 WashU RELN 5649 genome.wustl.edu GRCh37 7 103275980 103275980 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000428762.1:c.2357G>A p.Arg786Lys p.R786K ENST00000428762 NM_005045.3 786 aGa/aAa 0 Missense_Mutation C 32 RELN SNP 7 C T 103063216 103063216 WashU SLC26A4 5172 genome.wustl.edu GRCh37 7 107342281 107342281 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000265715.3:c.1813A>G p.Ile605Val p.I605V ENST00000265715 NM_000441.1 605 Ata/Gta 0 Missense_Mutation A 8 SLC26A4 SNP 7 A G 107129517 107129517 WashU C7orf66 154907 genome.wustl.edu GRCh37 7 108524521 108524521 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379007.2:c.69A>G p.Arg23= p.R23= ENST00000379007 NM_001024607.1 23 agA/agG 0 Silent T 58 C7orf66 SNP 7 T C 108311757 108311757 WashU KIAA1919 91749 genome.wustl.edu GRCh37 6 111587449 111587449 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368847.4:c.684C>T p.Asn228= p.N228= ENST00000368847 NM_153369.2 228 aaC/aaT 0 Silent C 19 KIAA1919 SNP 6 T T 111694142 111694142 WashU RNF10 9921 genome.wustl.edu GRCh37 12 120995221 120995221 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000325954.4:c.782G>A p.Ser261Asn p.S261N ENST00000325954 NM_014868.4 261 aGt/aAt 0 Missense_Mutation G 36 RNF10 SNP 12 G A 119479604 119479604 WashU NOTCH2 4853 genome.wustl.edu GRCh37 1 120491095 120491095 + synonymous_variant Silent SNP T T C novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000256646.2:c.2694A>G p.Glu898= p.E898= ENST00000256646 NM_024408.3 898 gaA/gaG 0 Silent T 52 NOTCH2 SNP 1 T C 120292618 120292618 WashU TENM1 10178 genome.wustl.edu GRCh37 X 123518182 123518182 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422452.2:c.6599C>G p.Pro2200Arg p.P2200R ENST00000422452 NM_001163279.1 2200 cCt/cGt 0 Missense_Mutation G 35 ODZ1 SNP 23 G C 123345863 123345863 WashU APLP2 334 genome.wustl.edu GRCh37 11 129979400 129979400 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263574.5:c.182T>C p.Met61Thr p.M61T ENST00000263574 NM_001642.2 61 aTg/aCg 0 Missense_Mutation T 51 APLP2 SNP 11 T C 129484610 129484610 WashU FGF13 2258 genome.wustl.edu GRCh37 X 137715074 137715074 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000370603.3:c.705G>A p.Lys235= p.K235= ENST00000370603 235 aaG/aaA 0 Silent C 32 FGF13 SNP 23 C T 137542740 137542740 WashU KCNK9 51305 genome.wustl.edu GRCh37 8 140630965 140630965 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000520439.1:c.661G>A p.Val221Met p.V221M ENST00000520439 NM_001282534.1 221 Gtg/Atg 0 Missense_Mutation C 19 KCNK9 SNP 8 C T 140700147 140700147 WashU KPRP 448834 genome.wustl.edu GRCh37 1 152732092 152732092 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368773.1:c.28C>T p.Arg10Cys p.R10C ENST00000368773 NM_001025231.1 10 Cgc/Tgc 0 Missense_Mutation C 23 KPRP SNP 1 C T 150998716 150998716 WashU TP53BP2 7159 genome.wustl.edu GRCh37 1 223980221 223980221 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000343537.7:c.2866G>C p.Asp956His p.D956H ENST00000343537 NM_001031685.2 956 Gat/Cat 0 Missense_Mutation C 29 TP53BP2 SNP 1 C G 222046844 222046844 WashU NYAP2 57624 genome.wustl.edu GRCh37 2 226273690 226273690 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000272907.6:c.94G>A p.Asp32Asn p.D32N ENST00000272907 NM_020864.1 32 Gat/Aat 0 Missense_Mutation G 45 KIAA1486 SNP 2 G A 225981934 225981934 WashU GPS2 2874 genome.wustl.edu GRCh37 17 7216733 7216746 + frameshift_variant Frame_Shift_Del DEL ATAGGGCTGTGGCT ATAGGGCTGTGGCT - novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 ATAGGGCTGTGGCT ATAGGGCTGTGGCT ATAGGGCTGTGGCT - ATAGGGCTGTGGCT ATAGGGCTGTGGCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000380728.2:c.677_690del p.Gln226ArgfsTer30 p.Q226Rfs*30 ENST00000380728 226 cAGCCACAGCCCTAT/c 0 Frame_Shift_Del ATAGGGCTGTGGCT 8 GPS2 DEL 17 ATAGGGCTGTGGCT - 7157470 7157457 WashU SSU72P8 genome.wustl.edu GRCh37 7 124116729 124116729 + non_coding_transcript_exon_variant RNA SNP C C A novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000473520.1:n.305C>A *102* ENST00000473520 0 Missense_Mutation C 20 LOC136157 SNP 7 C A 123903965 123903965 WashU CASK 8573 genome.wustl.edu GRCh37 X 41530717 41530717 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-0966-01 TCGA-24-0966-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378166.4:c.496G>C p.Ala166Pro p.A166P ENST00000378166 NM_003688.3 166 Gct/Cct 0 Missense_Mutation C 28 CASK SNP 23 C G 41415661 41415661 WashU RAP1GAP2 23108 genome.wustl.edu GRCh37 17 2929391 2929391 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000254695.8:c.1841C>T p.Pro614Leu p.P614L ENST00000254695 NM_015085.4 614 cCg/cTg 0 Missense_Mutation C 23 RAP1GAP2 SNP 17 C T 2876141 2876141 WashU TP53 7157 genome.wustl.edu GRCh37 17 7577559 7577559 + missense_variant Missense_Mutation SNP G G A rs28934573 Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000269305.4:c.722C>T p.Ser241Phe p.S241F ENST00000269305 NM_001126112.2 241 tCc/tTc 0 Missense_Mutation G 41 TP53 SNP 17 A A 7518284 7518284 WashU FARSA 2193 genome.wustl.edu GRCh37 19 13041497 13041497 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000314606.4:c.214C>T p.Arg72Trp p.R72W ENST00000314606 NM_004461.2 72 Cgg/Tgg 0 Missense_Mutation G 39 FARSA SNP 19 G A 12902497 12902497 WashU FAR1 84188 genome.wustl.edu GRCh37 11 13749116 13749116 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354817.3:c.1271A>T p.Asp424Val p.D424V ENST00000354817 NM_032228.5 424 gAt/gTt 0 Missense_Mutation A 12 FAR1 SNP 11 T T 13705692 13705692 WashU NCAM2 4685 genome.wustl.edu GRCh37 21 22652946 22652946 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000400546.1:c.104G>C p.Gly35Ala p.G35A ENST00000400546 NM_004540.3 35 gGa/gCa 0 Missense_Mutation G 41 NCAM2 SNP 21 G C 21574817 21574817 WashU GPR158 57512 genome.wustl.edu GRCh37 10 25886863 25886863 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376351.3:c.2308T>C p.Ser770Pro p.S770P ENST00000376351 NM_020752.2 770 Tct/Cct 0 Missense_Mutation T 54 GPR158 SNP 10 T C 25926869 25926869 WashU ANKS1A 23294 genome.wustl.edu GRCh37 6 34985642 34985642 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000360359.3:c.1816C>T p.Arg606Ter p.R606* ENST00000360359 NM_015245.2 606 Cga/Tga 0 Nonsense_Mutation C 23 ANKS1A SNP 6 C T 35093620 35093620 WashU TTC3 7267 genome.wustl.edu GRCh37 21 38497001 38497001 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000399017.2:c.1192A>G p.Ile398Val p.I398V ENST00000399017 NM_003316.3 398 Att/Gtt 0 Missense_Mutation A 4 TTC3 SNP 21 A G 37418871 37418871 WashU CBX7 23492 genome.wustl.edu GRCh37 22 39530037 39530037 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216133.5:c.615C>A p.Ala205= p.A205= ENST00000216133 NM_175709.3 205 gcC/gcA 0 Silent G 39 CBX7 SNP 22 T T 37859983 37859983 WashU PRICKLE1 144165 genome.wustl.edu GRCh37 12 42858557 42858557 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000455697.1:c.1279C>G p.Leu427Val p.L427V ENST00000455697 NM_001144883.1 427 Ctc/Gtc 0 Missense_Mutation G 35 PRICKLE1 SNP 12 G C 41144824 41144824 WashU KIAA1644 85352 genome.wustl.edu GRCh37 22 44692680 44692680 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000381176.4:c.153G>A p.Ser51= p.S51= ENST00000381176 NM_001099294.1 51 tcG/tcA 0 Silent C 23 KIAA1644 SNP 22 C T 43024013 43024013 WashU NNT 23530 genome.wustl.edu GRCh37 5 43656085 43656085 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264663.5:c.2203G>A p.Ala735Thr p.A735T ENST00000264663 NM_012343.3 735 Gca/Aca 0 Missense_Mutation G 34 NNT SNP 5 G A 43691842 43691842 WashU KRT79 338785 genome.wustl.edu GRCh37 12 53218087 53218087 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330553.5:c.915C>A p.Asn305Lys p.N305K ENST00000330553 NM_175834.2 305 aaC/aaA 0 Missense_Mutation G 48 KRT79 SNP 12 G T 51504354 51504354 WashU RB1CC1 9821 genome.wustl.edu GRCh37 8 53586460 53586460 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000025008.5:c.947A>G p.Asp316Gly p.D316G ENST00000025008 NM_014781.4 316 gAt/gGt 0 Missense_Mutation T 50 RB1CC1 SNP 8 T C 53749013 53749013 WashU PCDH15 65217 genome.wustl.edu GRCh37 10 55616968 55616968 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361849.3:c.3773C>A p.Thr1258Asn p.T1258N ENST00000361849 NM_001142768.1 1258 aCt/aAt 0 Missense_Mutation G 36 PCDH15 SNP 10 G T 55286974 55286974 WashU LRIG3 121227 genome.wustl.edu GRCh37 12 59274510 59274510 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000320743.3:c.1654C>G p.Leu552Val p.L552V ENST00000320743 NM_153377.4 552 Ctc/Gtc 0 Missense_Mutation G 35 LRIG3 SNP 12 G C 57560777 57560777 WashU TTC9C 283237 genome.wustl.edu GRCh37 11 62496464 62496464 + synonymous_variant Silent SNP G G T novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316461.4:c.144G>T p.Pro48= p.P48= ENST00000316461 NM_173810.3 48 ccG/ccT 0 Silent G 40 TTC9C SNP 11 G T 62253040 62253040 WashU PLEK2 26499 genome.wustl.edu GRCh37 14 67862145 67862145 + synonymous_variant Silent SNP G G A novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000216446.4:c.363C>T p.Phe121= p.F121= ENST00000216446 NM_016445.1 121 ttC/ttT 0 Silent G 45 PLEK2 SNP 14 G A 66931898 66931898 WashU NUMB 8650 genome.wustl.edu GRCh37 14 73743380 73743380 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000355058.3:c.1862C>T p.Ala621Val p.A621V ENST00000355058 621 gCt/gTt 0 Missense_Mutation G 34 NUMB SNP 14 G A 72813133 72813133 WashU CDH13 1012 genome.wustl.edu GRCh37 16 83250966 83250966 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268613.10:c.641G>T p.Arg214Met p.R214M ENST00000268613 214 aGg/aTg 0 Missense_Mutation G 35 CDH13 SNP 16 G T 81808467 81808467 WashU CDH13 1012 genome.wustl.edu GRCh37 16 83250975 83250975 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000268613.10:c.650G>T p.Arg217Met p.R217M ENST00000268613 217 aGg/aTg 0 Missense_Mutation G 35 CDH13 SNP 16 G T 81808476 81808476 WashU CADM2 253559 genome.wustl.edu GRCh37 3 85775654 85775654 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000405615.2:c.23A>G p.Asn8Ser p.N8S ENST00000405615 NM_153184.3 8 aAc/aGc 0 Missense_Mutation A 2 CADM2 SNP 3 A G 85858344 85858344 WashU VWA3B 200403 genome.wustl.edu GRCh37 2 98866853 98866853 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000477737.1:c.2746A>G p.Asn916Asp p.N916D ENST00000477737 NM_144992.4 916 Aat/Gat 0 Missense_Mutation A 5 VWA3B SNP 2 A G 98233285 98233285 WashU MFSD9 84804 genome.wustl.edu GRCh37 2 103335355 103335355 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000258436.5:c.949C>T p.Arg317Trp p.R317W ENST00000258436 NM_032718.3 317 Cgg/Tgg 0 Missense_Mutation G 38 MFSD9 SNP 2 A A 102701787 102701787 WashU DAO 1610 genome.wustl.edu GRCh37 12 109281280 109281280 + synonymous_variant Silent SNP C C T novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000228476.3:c.249C>T p.Asn83= p.N83= ENST00000228476 NM_001917.4 83 aaC/aaT 0 Silent C 19 DAO SNP 12 C T 107805409 107805409 WashU SOBP 55084 genome.wustl.edu GRCh37 6 107955065 107955065 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000317357.5:c.1017C>A p.Asn339Lys p.N339K ENST00000317357 NM_018013.3 339 aaC/aaA 0 Missense_Mutation C 20 SOBP SNP 6 C A 108061758 108061758 WashU CAMK2D 817 genome.wustl.edu GRCh37 4 114381345 114381345 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000342666.5:c.1162T>G p.Leu388Val p.L388V ENST00000342666 388 Tta/Gta 0 Missense_Mutation A 1 CAMK2D SNP 4 A C 114600794 114600794 WashU MCM9 254394 genome.wustl.edu GRCh37 6 119238803 119238803 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316316.6:c.827C>T p.Ser276Leu p.S276L ENST00000316316 NM_017696.2 276 tCa/tTa 0 Missense_Mutation G 45 MCM9 SNP 6 G A 119280502 119280502 WashU NUP188 23511 genome.wustl.edu GRCh37 9 131730797 131730797 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000372577.2:c.598G>A p.Val200Met p.V200M ENST00000372577 NM_015354.2 200 Gtg/Atg 0 Missense_Mutation G 36 NUP188 SNP 9 G A 130770618 130770618 WashU PPP2CA 5515 genome.wustl.edu GRCh37 5 133537663 133537663 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000481195.1:c.362G>C p.Arg121Thr p.R121T ENST00000481195 NM_002715.2 121 aGa/aCa 0 Missense_Mutation C 32 PPP2CA SNP 5 C G 133565562 133565562 WashU PPP1R26 9858 genome.wustl.edu GRCh37 9 138379949 138379949 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356818.2:c.3593C>T p.Thr1198Met p.T1198M ENST00000356818 NM_014811.3 1198 aCg/aTg 0 Missense_Mutation C 19 KIAA0649 SNP 9 C T 137519770 137519770 WashU PCDHB9 56127 genome.wustl.edu GRCh37 5 140568838 140568838 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000316105.4:n.1944G>A *648* ENST00000316105 0 Missense_Mutation G 34 PCDHB9 SNP 5 G A 140549022 140549022 WashU CYP11B1 1584 genome.wustl.edu GRCh37 8 143959174 143959174 + intron_variant Intron SNP T T C novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 T T T C T C Unknown Valid Germline 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000292427.4:c.396-536A>G *132* ENST00000292427 NM_000497.3 0 Missense_Mutation T 53 CYP11B1 SNP 8 T C 143956176 143956176 WashU LRBA 987 genome.wustl.edu GRCh37 4 151392833 151392833 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000357115.3:c.6643T>A p.Trp2215Arg p.W2215R ENST00000357115 NM_006726.4 2215 Tgg/Agg 0 Missense_Mutation A 8 LRBA SNP 4 A T 151612283 151612283 WashU HMCN1 83872 genome.wustl.edu GRCh37 1 185992177 185992177 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000271588.4:c.5641C>T p.Arg1881Ter p.R1881* ENST00000271588 NM_031935.2 1881 Cga/Tga 0 Nonsense_Mutation C 31 HMCN1 SNP 1 C T 184258800 184258800 WashU PGAP1 80055 genome.wustl.edu GRCh37 2 197781283 197781283 + synonymous_variant Silent SNP T T C novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354764.4:c.336A>G p.Ala112= p.A112= ENST00000354764 NM_024989.3 112 gcA/gcG 0 Silent T 55 PGAP1 SNP 2 T C 197489528 197489528 WashU FAM117B 150864 genome.wustl.edu GRCh37 2 203630305 203630305 + stop_gained Nonsense_Mutation SNP A A T novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392238.2:c.1588A>T p.Lys530Ter p.K530* ENST00000392238 530 Aag/Tag 0 Nonsense_Mutation A 5 FAM117B SNP 2 A T 203338550 203338550 WashU SLC18A1 6570 genome.wustl.edu GRCh37 8 20038410 20038411 + frameshift_variant Frame_Shift_Ins INS - - T novel Unknown TCGA-04-1349-01 TCGA-04-1349-11 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000440926.1:c.65_66insA p.Val23GlyfsTer29 p.V23Gfs*29 ENST00000440926 NM_001135691.2 22 ctg/ctAg 0 Frame_Shift_Ins - 21 SLC18A1 INS 8 - T 20082691 20082690 WashU PADI2 11240 genome.wustl.edu GRCh37 1 17418969 17418969 + missense_variant Missense_Mutation SNP C C T Unknown TCGA-04-1349-01 TCGA-04-1349-11 C C C T C C Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000375486.4:c.589G>A p.Gly197Arg p.G197R ENST00000375486 NM_007365.2 197 Gga/Aga 0 Missense_Mutation C 23 PADI2 SNP 1 C T 17291556 17291556 WashU CYP21A2 1589 genome.wustl.edu GRCh37 6 32006215 32006217 + inframe_deletion In_Frame_Del DEL CTG CTG - Unknown TCGA-04-1349-01 TCGA-04-1349-11 CTG CTG CTG - CTG CTG Unknown Valid Somatic PhaseIII Capture 1 dbGAP Illumina GAIIx ENST00000418967.2:c.29_31del p.Leu10del p.L10del ENST00000418967 NM_000500.7 6 CTG/- 0 In_Frame_Del CTG 24 CYP21A2 DEL 6 CTG - 32114196 32114194 WashU WASF2 10163 broad.mit.edu GRCh37 1 27739088 27739088 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000430629.2:c.802C>G p.Pro268Ala p.P268A ENST00000430629 NM_006990.3 268 Cct/Gct 0 Missense_Mutation G 42 WASF2 SNP 1 G C 27611675 27611675 Broad HPCA 3208 broad.mit.edu GRCh37 1 33354679 33354679 + synonymous_variant Silent SNP C C T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000373467.3:c.180C>T p.Asp60= p.D60= ENST00000373467 NM_002143.2 60 gaC/gaT 0 Silent C 19 HPCA SNP 1 C T 33127266 33127266 Broad CSF3R 1441 broad.mit.edu GRCh37 1 36937230 36937230 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 T A T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000361632.4:c.1089A>T p.Glu363Asp p.E363D ENST00000361632 363 gaA/gaT 0 Missense_Mutation T 56 CSF3R SNP 1 T A 36709817 36709817 Broad SRSF11 9295 broad.mit.edu GRCh37 1 70716465 70716465 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000370950.3:c.1432G>T p.Glu478Ter p.E478* ENST00000370950 478 Gaa/Taa 0 Nonsense_Mutation G 33 SRSF11 SNP 1 G T 70489053 70489053 Broad NES 10763 broad.mit.edu GRCh37 1 156641264 156641264 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000368223.3:c.2716C>G p.Pro906Ala p.P906A ENST00000368223 NM_006617.1 906 Cca/Gca 0 Missense_Mutation G 41 NES SNP 1 G C 154907888 154907888 Broad CCDC19 25790 broad.mit.edu GRCh37 1 159858244 159858244 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000368099.4:c.315C>G p.Ser105Arg p.S105R ENST00000368099 NM_012337.2 105 agC/agG 0 Missense_Mutation G 42 CCDC19 SNP 1 G C 158124868 158124868 Broad NCF2 4688 broad.mit.edu GRCh37 1 183534893 183534893 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 C T C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000367535.3:c.946G>A p.Asp316Asn p.D316N ENST00000367535 NM_000433.3 316 Gac/Aac 0 Missense_Mutation C 31 NCF2 SNP 1 C T 181801516 181801516 Broad IGFN1 91156 broad.mit.edu GRCh37 1 201183377 201183377 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000335211.4:c.8801G>T p.Cys2934Phe p.C2934F ENST00000335211 NM_001164586.1 2934 tGt/tTt 0 Missense_Mutation G 48 IGFN1 SNP 1 G T 199450000 199450000 Broad RPS6KC1 26750 broad.mit.edu GRCh37 1 213414047 213414047 + missense_variant,splice_region_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000366960.3:c.1228G>A p.Gly410Ser p.G410S ENST00000366960 NM_012424.3 410 Ggc/Agc 0 Missense_Mutation G 47 RPS6KC1 SNP 1 G A 211480670 211480670 Broad RYR2 6262 broad.mit.edu GRCh37 1 237777820 237777820 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000366574.2:c.5392G>T p.Ala1798Ser p.A1798S ENST00000366574 NM_001035.2 1798 Gct/Tct 0 Missense_Mutation G 34 RYR2 SNP 1 G T 235844443 235844443 Broad EPC1 80314 broad.mit.edu GRCh37 10 32576097 32576097 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000263062.8:c.1081C>A p.Leu361Met p.L361M ENST00000263062 NM_025209.3 361 Ctg/Atg 0 Missense_Mutation G 36 EPC1 SNP 10 G T 32616103 32616103 Broad JMJD1C 221037 broad.mit.edu GRCh37 10 64936163 64936163 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000399262.2:c.7295A>G p.Asn2432Ser p.N2432S ENST00000399262 NM_032776.1 2432 aAc/aGc 0 Missense_Mutation T 60 JMJD1C SNP 10 T C 64606169 64606169 Broad TACR2 6865 broad.mit.edu GRCh37 10 71176075 71176075 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000373306.4:c.5G>C p.Gly2Ala p.G2A ENST00000373306 NM_001057.2 2 gGg/gCg 0 Missense_Mutation C 22 TACR2 SNP 10 C G 70846081 70846081 Broad DUPD1 338599 broad.mit.edu GRCh37 10 76803577 76803577 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000338487.5:c.399C>T p.Asp133= p.D133= ENST00000338487 NM_001003892.1 133 gaC/gaT 0 Silent G 48 DUPD1 SNP 10 G A 76473583 76473583 Broad LOXL4 84171 broad.mit.edu GRCh37 10 100017897 100017897 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000260702.3:c.946G>A p.Gly316Arg p.G316R ENST00000260702 NM_032211.6 316 Ggg/Agg 0 Missense_Mutation C 23 LOXL4 SNP 10 C T 100007887 100007887 Broad DUSP5 1847 broad.mit.edu GRCh37 10 112269980 112269980 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000369583.3:c.951C>A p.Ile317= p.I317= ENST00000369583 NM_004419.3 317 atC/atA 0 Silent C 30 DUSP5 SNP 10 C A 112259970 112259970 Broad B4GALNT4 338707 broad.mit.edu GRCh37 11 381728 381728 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000329962.6:c.3056A>G p.Tyr1019Cys p.Y1019C ENST00000329962 NM_178537.4 1019 tAc/tGc 0 Missense_Mutation A 14 B4GALNT4 SNP 11 A G 371728 371728 Broad KRT6B 3854 broad.mit.edu GRCh37 12 52845660 52845660 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000252252.3:c.203A>G p.Lys68Arg p.K68R ENST00000252252 NM_005555.3 68 aAg/aGg 0 Missense_Mutation T 56 KRT6B SNP 12 T C 51131927 51131927 Broad SOAT2 8435 broad.mit.edu GRCh37 12 53509190 53509190 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000301466.3:c.460G>C p.Asp154His p.D154H ENST00000301466 NM_003578.3 154 Gac/Cac 0 Missense_Mutation G 45 SOAT2 SNP 12 G C 51795457 51795457 Broad ZFC3H1 196441 broad.mit.edu GRCh37 12 72013148 72013148 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000378743.3:c.5091T>G p.Ile1697Met p.I1697M ENST00000378743 NM_144982.4 1697 atT/atG 0 Missense_Mutation A 5 ZFC3H1 SNP 12 A C 70299415 70299415 Broad CDK17 5128 broad.mit.edu GRCh37 12 96717754 96717754 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 C T C C Unknown Valid Somatic x x 454_PCR_WGA x ENST00000261211.3:c.255G>A p.Met85Ile p.M85I ENST00000261211 NM_002595.4 85 atG/atA 0 Missense_Mutation C 21 CDK17 SNP 12 C T 95241885 95241885 Broad GOLGA3 2802 broad.mit.edu GRCh37 12 133384882 133384882 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000204726.3:c.773A>C p.Asn258Thr p.N258T ENST00000204726 NM_005895.3 258 aAt/aCt 0 Missense_Mutation T 52 GOLGA3 SNP 12 T G 131894955 131894955 Broad FREM2 341640 broad.mit.edu GRCh37 13 39263731 39263731 + missense_variant Missense_Mutation SNP C C A rs41292755 Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000280481.7:c.2250C>A p.Asp750Glu p.D750E ENST00000280481 NM_207361.4 750 gaC/gaA 0 Missense_Mutation C 19 FREM2 SNP 13 C A 38161731 38161731 Broad KATNBL1 79768 broad.mit.edu GRCh37 15 34439435 34439435 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000256544.3:c.664C>G p.Leu222Val p.L222V ENST00000256544 NM_024713.2 222 Cta/Gta 0 Missense_Mutation G 33 C15orf29 SNP 15 G C 32226727 32226727 Broad TMC3 342125 broad.mit.edu GRCh37 15 81650817 81650817 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000359440.5:c.526A>T p.Ser176Cys p.S176C ENST00000359440 NM_001080532.1 176 Agc/Tgc 0 Missense_Mutation T 56 TMC3 SNP 15 T A 79437872 79437872 Broad RAB26 25837 broad.mit.edu GRCh37 16 2203354 2203354 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000210187.6:c.703G>T p.Glu235Ter p.E235* ENST00000210187 NM_014353.4 235 Gag/Tag 0 Nonsense_Mutation G 37 RAB26 SNP 16 G T 2143355 2143355 Broad FBXL19 54620 broad.mit.edu GRCh37 16 30958095 30958095 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000380310.2:c.1732C>T p.Arg578Cys p.R578C ENST00000380310 NM_001099784.2 578 Cgt/Tgt 0 Missense_Mutation C 27 FBXL19 SNP 16 C T 30865596 30865596 Broad SETD1A 9739 broad.mit.edu GRCh37 16 30982964 30982964 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000262519.8:c.3282G>T p.Val1094= p.V1094= ENST00000262519 NM_014712.1 1094 gtG/gtT 0 Silent G 46 SETD1A SNP 16 G T 30890465 30890465 Broad GPR179 440435 broad.mit.edu GRCh37 17 36492928 36492928 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000342292.4:c.1160G>C p.Cys387Ser p.C387S ENST00000342292 NM_001004334.2 387 tGc/tCc 0 Missense_Mutation C 25 GPR179 SNP 17 C G 33746454 33746454 Broad GH2 2689 broad.mit.edu GRCh37 17 61957801 61957801 + 3_prime_UTR_variant 3'UTR SNP G G T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000332800.7:c.*16C>A *6* ENST00000332800 NM_002059.4 0 Missense_Mutation G 40 GH2 SNP 17 G T 59311533 59311533 Broad ICT1 3396 broad.mit.edu GRCh37 17 73016603 73016603 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000301585.5:c.387G>C p.Arg129Ser p.R129S ENST00000301585 NM_001545.1 129 agG/agC 0 Missense_Mutation G 44 ICT1 SNP 17 G C 70528198 70528198 Broad OSBPL1A 114876 broad.mit.edu GRCh37 18 21758092 21758092 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000319481.3:c.1978G>A p.Ala660Thr p.A660T ENST00000319481 NM_080597.3 660 Gct/Act 0 Missense_Mutation C 25 OSBPL1A SNP 18 C T 20012090 20012090 Broad TMPRSS9 360200 broad.mit.edu GRCh37 19 2401990 2401990 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000332578.3:c.430T>G p.Leu144Val p.L144V ENST00000332578 NM_182973.1 144 Ttg/Gtg 0 Missense_Mutation T 56 TMPRSS9 SNP 19 T G 2352990 2352990 Broad IER2 9592 broad.mit.edu GRCh37 19 13264078 13264078 + synonymous_variant Silent SNP T T G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000588173.1:c.78T>G p.Gly26= p.G26= ENST00000588173 26 ggT/ggG 0 Silent T 59 IER2 SNP 19 T G 13125078 13125078 Broad ATP13A1 57130 broad.mit.edu GRCh37 19 19766160 19766160 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000357324.6:c.1499C>A p.Ala500Asp p.A500D ENST00000357324 NM_020410.2 500 gCc/gAc 0 Missense_Mutation G 42 ATP13A1 SNP 19 G T 19627160 19627160 Broad MTA3 57504 broad.mit.edu GRCh37 2 42922935 42922935 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000407270.3:c.922G>C p.Glu308Gln p.E308Q ENST00000407270 NM_020744.2 308 Gaa/Caa 0 Missense_Mutation G 45 MTA3 SNP 2 G C 42776439 42776439 Broad NRXN1 9378 broad.mit.edu GRCh37 2 50758414 50758414 + synonymous_variant Silent SNP G G T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 G T G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000404971.1:c.2418C>A p.Thr806= p.T806= ENST00000404971 NM_001135659.1 806 acC/acA 0 Silent G 43 NRXN1 SNP 2 G T 50611918 50611918 Broad PTPN18 26469 broad.mit.edu GRCh37 2 131116825 131116825 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000175756.5:c.222C>G p.Ile74Met p.I74M ENST00000175756 NM_014369.3 74 atC/atG 0 Missense_Mutation C 30 PTPN18 SNP 2 C G 130833295 130833295 Broad ZEB2 9839 broad.mit.edu GRCh37 2 145147303 145147303 + synonymous_variant Silent SNP C C A novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 C A C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000558170.2:c.3360G>T p.Gly1120= p.G1120= ENST00000558170 NM_014795.3 1120 ggG/ggT 0 Silent C 18 ZEB2 SNP 2 C A 144863773 144863773 Broad TTN 7273 broad.mit.edu GRCh37 2 179454011 179454011 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 C G C C Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000589042.1:c.62441G>C p.Arg20814Thr p.R20814T ENST00000589042 NM_001267550.1 20814 aGa/aCa 0 Missense_Mutation C 32 TTN SNP 2 C G 179162257 179162257 Broad SYNJ1 8867 broad.mit.edu GRCh37 21 34004044 34004044 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000433931.2:c.4100T>C p.Leu1367Pro p.L1367P ENST00000433931 NM_003895.3 1367 cTg/cCg 0 Missense_Mutation A 7 SYNJ1 SNP 21 A G 32925915 32925915 Broad NDUFV3 4731 broad.mit.edu GRCh37 21 44323480 44323480 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 A G A A Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000354250.2:c.358A>G p.Thr120Ala p.T120A ENST00000354250 NM_021075.3 120 Act/Gct 0 Missense_Mutation A 10 NDUFV3 SNP 21 A G 43196549 43196549 Broad BID 637 broad.mit.edu GRCh37 22 18226601 18226601 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000317361.7:c.329G>C p.Ser110Thr p.S110T ENST00000317361 NM_197966.2 110 aGc/aCc 0 Missense_Mutation C 28 BID SNP 22 C G 16606601 16606601 Broad FAM212A 389119 broad.mit.edu GRCh37 3 49842262 49842262 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000333323.4:c.706C>T p.Arg236Trp p.R236W ENST00000333323 NM_203370.1 236 Cgg/Tgg 0 Missense_Mutation C 23 C3orf54 SNP 3 C T 49817266 49817266 Broad CBLB 868 broad.mit.edu GRCh37 3 105400587 105400587 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000264122.4:c.2277C>G p.Asp759Glu p.D759E ENST00000264122 NM_170662.3 759 gaC/gaG 0 Missense_Mutation G 36 CBLB SNP 3 G C 106883277 106883277 Broad STXBP5L 9515 broad.mit.edu GRCh37 3 120957911 120957911 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000273666.6:c.1278T>G p.Ile426Met p.I426M ENST00000273666 NM_014980.2 426 atT/atG 0 Missense_Mutation T 62 STXBP5L SNP 3 T G 122440601 122440601 Broad FBXO40 51725 broad.mit.edu GRCh37 3 121345659 121345659 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000338040.4:c.2032C>A p.Pro678Thr p.P678T ENST00000338040 NM_016298.3 678 Ccg/Acg 0 Missense_Mutation C 22 FBXO40 SNP 3 C A 122828349 122828349 Broad KLF15 28999 broad.mit.edu GRCh37 3 126070787 126070787 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000296233.3:c.979G>T p.Gly327Cys p.G327C ENST00000296233 NM_014079.3 327 Ggc/Tgc 0 Missense_Mutation C 21 KLF15 SNP 3 C A 127553477 127553477 Broad RAB7A 7879 broad.mit.edu GRCh37 3 128516791 128516791 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000265062.3:c.59G>C p.Gly20Ala p.G20A ENST00000265062 NM_004637.5 20 gGg/gCg 0 Missense_Mutation G 43 RAB7A SNP 3 G C 129999481 129999481 Broad COL6A5 256076 broad.mit.edu GRCh37 3 130159638 130159638 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000265379.6:c.6456G>A p.Lys2152= p.K2152= ENST00000265379 NM_001278298.1 2152 aaG/aaA 0 Silent G 36 COL6A5 SNP 3 G A 131642328 131642328 Broad TFRC 7037 broad.mit.edu GRCh37 3 195780356 195780356 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 G C G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000360110.4:c.1973C>G p.Thr658Arg p.T658R ENST00000360110 NM_001128148.1 658 aCa/aGa 0 Missense_Mutation G 48 TFRC SNP 3 G C 197264753 197264753 Broad RFC1 5981 broad.mit.edu GRCh37 4 39328200 39328200 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000381897.1:c.625C>G p.Leu209Val p.L209V ENST00000381897 NM_002913.4 209 Ctt/Gtt 0 Missense_Mutation G 34 RFC1 SNP 4 G C 39004595 39004595 Broad USP46 64854 broad.mit.edu GRCh37 4 53476722 53476722 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000441222.3:c.623T>C p.Ile208Thr p.I208T ENST00000441222 NM_022832.3 208 aTt/aCt 0 Missense_Mutation A 4 USP46 SNP 4 A G 53171479 53171479 Broad CEP72 55722 broad.mit.edu GRCh37 5 624630 624630 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000264935.5:c.448C>T p.His150Tyr p.H150Y ENST00000264935 NM_018140.3 150 Cat/Tat 0 Missense_Mutation C 25 CEP72 SNP 5 C T 677630 677630 Broad ADCY2 108 broad.mit.edu GRCh37 5 7626422 7626422 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 G A G G Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000338316.4:c.713G>A p.Arg238His p.R238H ENST00000338316 NM_020546.2 238 cGt/cAt 0 Missense_Mutation G 40 ADCY2 SNP 5 G A 7679422 7679422 Broad OSMR 9180 broad.mit.edu GRCh37 5 38933452 38933452 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 T C T T Unknown Valid Somatic x x Sequenom_PCR_WGA x ENST00000274276.3:c.2846T>C p.Met949Thr p.M949T ENST00000274276 NM_003999.2 949 aTg/aCg 0 Missense_Mutation T 51 OSMR SNP 5 T C 38969209 38969209 Broad MED23 9439 broad.mit.edu GRCh37 6 131917304 131917304 + splice_acceptor_variant Splice_Site SNP C C G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000368068.3:c.2779-1G>C p.X927_splice ENST00000368068 NM_004830.3 0 Splice_Site_SNP C 32 MED23 SNP 6 C G 131958997 131958997 Broad SPDYE1 285955 broad.mit.edu GRCh37 7 44046936 44046936 + synonymous_variant Silent SNP G G C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000258704.3:c.702G>C p.Gly234= p.G234= ENST00000258704 NM_175064.2 234 ggG/ggC 0 Silent G 41 SPDYE1 SNP 7 G C 44013461 44013461 Broad MDH2 4191 broad.mit.edu GRCh37 7 75695631 75695631 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000315758.5:c.920A>G p.Lys307Arg p.K307R ENST00000315758 NM_005918.2 307 aAa/aGa 0 Missense_Mutation A 1 MDH2 SNP 7 A G 75533567 75533567 Broad ACTL6B 51412 broad.mit.edu GRCh37 7 100243919 100243919 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000160382.5:c.1153G>T p.Glu385Ter p.E385* ENST00000160382 NM_016188.4 385 Gag/Tag 0 Nonsense_Mutation C 30 ACTL6B SNP 7 C A 100081855 100081855 Broad CUX1 1523 broad.mit.edu GRCh37 7 101844882 101844882 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000360264.3:c.2338G>A p.Ala780Thr p.A780T ENST00000360264 NM_001202543.1 780 Gca/Aca 0 Missense_Mutation G 38 CUX1 SNP 7 G A 101631602 101631602 Broad MGAM 8972 broad.mit.edu GRCh37 7 141731568 141731568 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 A T A A Unknown Valid Somatic x x 454_PCR_WGA x ENST00000549489.2:c.1559A>T p.Gln520Leu p.Q520L ENST00000549489 NM_004668.2 520 cAa/cTa 0 Missense_Mutation A 5 MGAM SNP 7 A T 141378037 141378037 Broad ATG9B 285973 broad.mit.edu GRCh37 7 150714258 150714258 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000377974.2:c.2154G>T p.Trp718Cys p.W718C ENST00000377974 718 tgG/tgT 0 Missense_Mutation C 26 ATG9B SNP 7 C A 150345191 150345191 Broad EMC2 9694 broad.mit.edu GRCh37 8 109482112 109482112 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000220853.3:c.421A>G p.Ile141Val p.I141V ENST00000220853 NM_014673.3 141 Att/Gtt 0 Missense_Mutation A 8 TTC35 SNP 8 A G 109551288 109551288 Broad NLGN4X 57502 broad.mit.edu GRCh37 X 5811458 5811458 + synonymous_variant Silent SNP G G A novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000381095.3:c.1851C>T p.Asp617= p.D617= ENST00000381095 NM_181332.1 617 gaC/gaT 0 Silent G 48 NLGN4X SNP 23 G A 5821458 5821458 Broad FAAH2 158584 broad.mit.edu GRCh37 X 57319015 57319015 + splice_donor_variant Splice_Site SNP T T G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000374900.4:c.275+2T>G p.X92_splice ENST00000374900 NM_174912.3 0 Splice_Site_SNP T 59 FAAH2 SNP 23 T G 57335740 57335740 Broad ARHGEF9 23229 broad.mit.edu GRCh37 X 62917004 62917004 + splice_donor_variant Splice_Site SNP C C T novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000253401.6:c.561+1G>A p.X187_splice ENST00000253401 NM_015185.2 0 Splice_Site_SNP C 19 ARHGEF9 SNP 23 C T 62833729 62833729 Broad OPHN1 4983 broad.mit.edu GRCh37 X 67454406 67454406 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000355520.5:c.409G>C p.Asp137His p.D137H ENST00000355520 NM_002547.2 137 Gat/Cat 0 Missense_Mutation C 30 OPHN1 SNP 23 C G 67371131 67371131 Broad TBC1D8B 54885 broad.mit.edu GRCh37 X 106113969 106113969 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown x x x ENST00000357242.5:c.2893G>C p.Ala965Pro p.A965P ENST00000357242 NM_017752.2 965 Gca/Cca 0 Missense_Mutation G 34 TBC1D8B SNP 23 G C 106000625 106000625 Broad TP53 7157 broad.mit.edu GRCh37 17 7578275 7578277 + inframe_deletion In_Frame_Del DEL GAG GAG - novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000269305.4:c.572_574delCTC p.Pro191del p.P191del ENST00000269305 NM_001126112.2 191 cCTCag/cag 0 In_Frame_Del GAG 45 TP53 DEL 17 GAG - 7519002 7519000 Broad ATP10B 23120 broad.mit.edu GRCh37 5 160049412 160049442 + frameshift_variant Frame_Shift_Del DEL GCTCGGTGGTTGTGGACACCATGACAGAGTT GCTCGGTGGTTGTGGACACCATGACAGAGTT - novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000327245.5:c.1771_1801del p.Asn591ProfsTer28 p.N591Pfs*28 ENST00000327245 NM_025153.2 591 AACTCTGTCATGGTGTCCACAACCACCGAGCcc/cc 0 Frame_Shift_Del GCTCGGTGGTTGTGGACACCATGACAGAGTT 42 ATP10B DEL 5 - GCTCGGTGGTTGTGGACACCATGACAGAGTT 159982020 159981990 Broad TTC16 158248 broad.mit.edu GRCh37 9 130482567 130482568 + frameshift_variant Frame_Shift_Ins INS - - G novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000373289.3:c.550_551insG p.Lys184ArgfsTer311 p.K184Rfs*311 ENST00000373289 NM_144965.1 184 aag/aGag 0 Frame_Shift_Ins - 5 TTC16 INS 9 G - 129522389 129522388 Broad BRWD3 254065 broad.mit.edu GRCh37 X 79989661 79989674 + frameshift_variant Frame_Shift_Del DEL CCAAATAATATATT CCAAATAATATATT - novel Unknown TCGA-24-1423-01 TCGA-24-1423-10 Unknown Unknown Unknown Phase_I Capture Illumina GAIIx ENST00000373275.4:c.1029_1042del p.Ile344PhefsTer2 p.I344Ffs*2 ENST00000373275 NM_153252.4 343 agAATATATTATTTGGgt/aggt 0 Frame_Shift_Del CCAAATAATATATT 22 BRWD3 DEL 23 - CCAAATAATATATT 79876330 79876317 Broad WNK1 65125 genome.wustl.edu GRCh37 12 988774 988774 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000315939.6:c.2409C>A p.Gly803= p.G803= ENST00000315939 NM_018979.3 803 ggC/ggA 0 Silent C 27 WNK1 SNP 12 C A 859035 859035 WashU ZSCAN10 84891 genome.wustl.edu GRCh37 16 3142122 3142122 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000252463.2:c.427A>G p.Arg143Gly p.R143G ENST00000252463 NM_032805.1 143 Agg/Ggg 0 Missense_Mutation T 54 ZSCAN10 SNP 16 C C 3082123 3082123 WashU PELP1 27043 genome.wustl.edu GRCh37 17 4577907 4577907 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000574876.1:c.1480C>A p.Pro494Thr p.P494T ENST00000574876 494 Ccc/Acc 0 Missense_Mutation G 43 PELP1 SNP 17 T T 4524656 4524656 WashU OR52L2P 79274 genome.wustl.edu GRCh37 11 6078563 6078563 + non_coding_transcript_exon_variant RNA SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000572217.1:n.943C>T *315* ENST00000572217 0 Nonsense_Mutation G 47 OR52L2P SNP 11 G A 6035139 6035139 WashU PMS2CL 441194 genome.wustl.edu GRCh37 7 6777092 6777092 + non_coding_transcript_exon_variant,non_coding_transcript_variant RNA SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000403974.2:n.471C>A *157* ENST00000403974 0 Missense_Mutation C 17 PMS2CL SNP 7 C A 6743617 6743617 WashU INSR 3643 genome.wustl.edu GRCh37 19 7117339 7117339 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000302850.5:c.3877G>T p.Asp1293Tyr p.D1293Y ENST00000302850 NM_000208.2 1293 Gac/Tac 0 Missense_Mutation C 31 INSR SNP 19 C A 7068339 7068339 WashU OLFML1 283298 genome.wustl.edu GRCh37 11 7509633 7509633 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000329293.3:c.405T>A p.Thr135= p.T135= ENST00000329293 NM_198474.3 135 acT/acA 0 Silent T 54 OLFML1 SNP 11 T A 7466209 7466209 WashU TP53 7157 genome.wustl.edu GRCh37 17 7574034 7574034 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000269305.4:c.994-1G>A p.X332_splice ENST00000269305 NM_001126112.2 0 Splice_Site_SNP C 32 TP53 SNP 17 C T 7514759 7514759 WashU PAK7 57144 genome.wustl.edu GRCh37 20 9561002 9561002 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000353224.5:c.780C>T p.Ser260= p.S260= ENST00000353224 NM_177990.2 260 agC/agT 0 Silent G 42 PAK7 SNP 20 G A 9509002 9509002 WashU MYH3 4621 genome.wustl.edu GRCh37 17 10545863 10545863 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C T T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000583535.1:c.1759G>A p.Val587Met p.V587M ENST00000583535 NM_002470.3 587 Gtg/Atg 0 Missense_Mutation C 19 MYH3 SNP 17 T T 10486588 10486588 WashU MSR1 4481 genome.wustl.edu GRCh37 8 15967728 15967728 + splice_acceptor_variant Splice_Site SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262101.5:c.1223-1G>A p.X408_splice ENST00000262101 0 Splice_Site_SNP C 24 MSR1 SNP 8 T T 16012099 16012099 WashU TAS1R2 80834 genome.wustl.edu GRCh37 1 19166493 19166493 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000375371.3:c.2120G>A p.Arg707His p.R707H ENST00000375371 NM_152232.2 707 cGt/cAt 0 Missense_Mutation C 19 TAS1R2 SNP 1 C T 19039080 19039080 WashU NCAN 1463 genome.wustl.edu GRCh37 19 19349115 19349115 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000252575.6:c.3304T>A p.Tyr1102Asn p.Y1102N ENST00000252575 NM_004386.2 1102 Tat/Aat 0 Missense_Mutation T 53 NCAN SNP 19 T A 19210115 19210115 WashU NBL1 4681 genome.wustl.edu GRCh37 1 19981859 19981859 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000289749.2:c.318C>T p.Thr106= p.T106= ENST00000289749 NM_182744.3 106 acC/acT 0 Silent C 24 NBL1 SNP 1 C T 19854446 19854446 WashU CDH18 1016 genome.wustl.edu GRCh37 5 19838997 19838997 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000507958.1:c.99G>A p.Val33= p.V33= ENST00000507958 33 gtG/gtA 0 Silent C 29 CDH18 SNP 5 C T 19874754 19874754 WashU RPL15 6138 genome.wustl.edu GRCh37 3 23960900 23960900 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000307839.5:c.523G>T p.Gly175Ter p.G175* ENST00000307839 NM_001253379.1 175 Gga/Tga 0 Nonsense_Mutation G 47 RPL15 SNP 3 G T 23935904 23935904 WashU AMER2 219287 genome.wustl.edu GRCh37 13 25743799 25743799 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000515384.1:c.1959C>A p.Gly653= p.G653= ENST00000515384 653 ggC/ggA 0 Silent G 34 FAM123A SNP 13 G T 24641799 24641799 WashU ITPR2 3709 genome.wustl.edu GRCh37 12 26564322 26564322 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000381340.3:c.7330A>T p.Thr2444Ser p.T2444S ENST00000381340 NM_002223.2 2444 Act/Tct 0 Missense_Mutation T 58 ITPR2 SNP 12 T A 26455589 26455589 WashU RPA2 6118 genome.wustl.edu GRCh37 1 28241136 28241136 + 5_prime_UTR_variant 5'UTR SNP A A C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000373912.3:c.-182T>G *61* ENST00000373912 NM_002946.3 0 Splice_Site_SNP A 6 RPA2 SNP 1 A C 28113723 28113723 WashU DEFB118 117285 genome.wustl.edu GRCh37 20 29960956 29960956 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000253381.2:c.355G>A p.Val119Ile p.V119I ENST00000253381 NM_054112.2 119 Gtt/Att 0 Missense_Mutation G 48 DEFB118 SNP 20 G A 29424617 29424617 WashU NOL4 8715 genome.wustl.edu GRCh37 18 31685025 31685025 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261592.5:c.514A>C p.Thr172Pro p.T172P ENST00000261592 NM_001198546.1 172 Aca/Cca 0 Missense_Mutation T 60 NOL4 SNP 18 G G 29939023 29939023 WashU PPP1R11 6992 genome.wustl.edu GRCh37 6 30036907 30036907 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000376772.3:c.205G>T p.Ala69Ser p.A69S ENST00000376772 NM_021959.2 69 Gcc/Tcc 0 Missense_Mutation G 42 PPP1R11 SNP 6 G T 30144886 30144886 WashU PRRC2A 7916 genome.wustl.edu GRCh37 6 31592248 31592248 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000376033.2:c.412G>A p.Gly138Arg p.G138R ENST00000376033 NM_004638.3 138 Ggg/Agg 0 Missense_Mutation G 39 BAT2 SNP 6 G A 31700227 31700227 WashU VARS 7407 genome.wustl.edu GRCh37 6 31746775 31746775 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000375663.3:c.3695C>T p.Pro1232Leu p.P1232L ENST00000375663 NM_006295.2 1232 cCg/cTg 0 Missense_Mutation G 39 VARS SNP 6 G A 31854754 31854754 WashU APTX 54840 genome.wustl.edu GRCh37 9 32989805 32989805 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000379813.3:c.85C>T p.Arg29Cys p.R29C ENST00000379813 29 Cgt/Tgt 0 Missense_Mutation G 38 APTX SNP 9 A A 32979805 32979805 WashU BRD2 6046 genome.wustl.edu GRCh37 6 32945907 32945907 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000395289.2:c.1583G>C p.Arg528Pro p.R528P ENST00000395289 528 cGg/cCg 0 Missense_Mutation G 39 BRD2 SNP 6 G C 33053885 33053885 WashU FUT10 84750 genome.wustl.edu GRCh37 8 33246748 33246748 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000327671.5:c.945T>G p.Leu315= p.L315= ENST00000327671 NM_032664.3 315 ctT/ctG 0 Silent A 9 FUT10 SNP 8 A C 33366290 33366290 WashU NFS1 9054 genome.wustl.edu GRCh37 20 34268746 34268746 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000374092.4:c.703C>T p.Gln235Ter p.Q235* ENST00000374092 NM_021100.4 235 Cag/Tag 0 Nonsense_Mutation G 47 NFS1 SNP 20 G A 33732160 33732160 WashU DCLK1 9201 genome.wustl.edu GRCh37 13 36384981 36384981 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000255448.4:c.1679C>T p.Ala560Val p.A560V ENST00000255448 NM_004734.4 560 gCa/gTa 0 Missense_Mutation G 46 DCLK1 SNP 13 G A 35282981 35282981 WashU IL2RB 3560 genome.wustl.edu GRCh37 22 37524514 37524514 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000216223.5:c.1278C>A p.Asp426Glu p.D426E ENST00000216223 NM_000878.3 426 gaC/gaA 0 Missense_Mutation G 44 IL2RB SNP 22 T T 35854460 35854460 WashU HAP1 9001 genome.wustl.edu GRCh37 17 39881248 39881248 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000347901.4:c.1565C>G p.Ala522Gly p.A522G ENST00000347901 NM_177977.2 522 gCt/gGt 0 Missense_Mutation G 34 HAP1 SNP 17 C C 37134774 37134774 WashU KIF21A 55605 genome.wustl.edu GRCh37 12 39703478 39703478 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000361418.5:c.4187G>A p.Cys1396Tyr p.C1396Y ENST00000361418 1396 tGt/tAt 0 Missense_Mutation C 17 KIF21A SNP 12 C T 37989745 37989745 WashU STAR 6770 genome.wustl.edu GRCh37 8 38006254 38006254 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000276449.4:c.83T>A p.Val28Glu p.V28E ENST00000276449 NM_000349.2 28 gTg/gAg 0 Missense_Mutation A 6 STAR SNP 8 A T 38125411 38125411 WashU AMPH 273 genome.wustl.edu GRCh37 7 38429468 38429468 + synonymous_variant Silent SNP A A G novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000356264.2:c.1917T>C p.Asp639= p.D639= ENST00000356264 NM_001635.3 639 gaT/gaC 0 Silent A 8 AMPH SNP 7 A G 38395993 38395993 WashU LRRC4C 57689 genome.wustl.edu GRCh37 11 40136253 40136253 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000278198.2:c.1590T>A p.Ile530= p.I530= ENST00000278198 530 atT/atA 0 Silent A 5 LRRC4C SNP 11 A T 40092829 40092829 WashU TOB2 10766 genome.wustl.edu GRCh37 22 41832900 41832900 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000327492.3:c.450G>C p.Leu150= p.L150= ENST00000327492 NM_016272.3 150 ctG/ctC 0 Silent C 17 TOB2 SNP 22 C G 40162846 40162846 WashU NPHS1 4868 genome.wustl.edu GRCh37 19 36333452 36333452 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000378910.5:c.2335G>T p.Gly779Ter p.G779* ENST00000378910 NM_004646.3 779 Gga/Tga 0 Nonsense_Mutation C 22 NPHS1 SNP 19 C A 41025292 41025292 WashU MAP1A 4130 genome.wustl.edu GRCh37 15 43820357 43820357 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000300231.5:c.6686C>T p.Ser2229Leu p.S2229L ENST00000300231 2229 tCa/tTa 0 Missense_Mutation C 29 MAP1A SNP 15 C T 41607649 41607649 WashU HAAO 23498 genome.wustl.edu GRCh37 2 42994629 42994629 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000294973.6:c.809C>T p.Ser270Phe p.S270F ENST00000294973 NM_012205.2 270 tCt/tTt 0 Missense_Mutation G 33 HAAO SNP 2 G A 42848133 42848133 WashU HNRNPL 3191 genome.wustl.edu GRCh37 19 39338015 39338015 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000221419.5:c.327G>T p.Leu109= p.L109= ENST00000221419 NM_001533.2 109 ctG/ctT 0 Silent C 29 HNRNPL SNP 19 C A 44029855 44029855 WashU SCAF11 9169 genome.wustl.edu GRCh37 12 46321679 46321679 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000369367.3:c.1805C>G p.Thr602Arg p.T602R ENST00000369367 NM_004719.2 602 aCa/aGa 0 Missense_Mutation G 48 SRSF2IP SNP 12 G C 44607946 44607946 WashU PTCH2 8643 genome.wustl.edu GRCh37 1 45297700 45297700 + stop_gained Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000372192.3:c.472A>T p.Lys158Ter p.K158* ENST00000372192 NM_003738.4 158 Aaa/Taa 0 Nonsense_Mutation T 63 PTCH2 SNP 1 T A 45070287 45070287 WashU ITGB2 3689 genome.wustl.edu GRCh37 21 46326980 46326980 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T T G T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000397850.2:c.178A>C p.Ile60Leu p.I60L ENST00000397850 60 Att/Ctt 0 Missense_Mutation T 51 ITGB2 SNP 21 T G 45151408 45151408 WashU MAST2 23139 genome.wustl.edu GRCh37 1 46491441 46491441 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000361297.2:c.1873T>A p.Tyr625Asn p.Y625N ENST00000361297 NM_015112.2 625 Tac/Aac 0 Missense_Mutation T 57 MAST2 SNP 1 T A 46264028 46264028 WashU FBN1 2200 genome.wustl.edu GRCh37 15 48713002 48713002 + splice_region_variant,synonymous_variant Splice_Region SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000316623.5:c.7701C>T p.Asp2567= p.D2567= ENST00000316623 NM_000138.4 2567 gaC/gaT 0 Silent G 40 FBN1 SNP 15 A A 46500294 46500294 WashU CEACAM7 1087 genome.wustl.edu GRCh37 19 42190798 42190798 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000006724.3:c.419A>G p.Tyr140Cys p.Y140C ENST00000006724 NM_006890.3 140 tAc/tGc 0 Missense_Mutation T 57 CEACAM7 SNP 19 T C 46882638 46882638 WashU USP11 8237 genome.wustl.edu GRCh37 X 47101535 47101535 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000218348.3:c.1363G>A p.Val455Met p.V455M ENST00000218348 NM_004651.3 455 Gtg/Atg 0 Missense_Mutation G 40 USP11 SNP 23 A A 46986479 46986479 WashU STAU1 6780 genome.wustl.edu GRCh37 20 47739667 47739667 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000371856.2:c.928G>C p.Glu310Gln p.E310Q ENST00000371856 NM_017453.2 310 Gag/Cag 0 Missense_Mutation C 32 STAU1 SNP 20 C G 47173074 47173074 WashU GRIK5 2901 genome.wustl.edu GRCh37 19 42569497 42569497 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000262895.3:c.122G>A p.Arg41His p.R41H ENST00000262895 NM_002088.4 41 cGt/cAt 0 Missense_Mutation C 19 GRIK5 SNP 19 C T 47261337 47261337 WashU PLXNB1 5364 genome.wustl.edu GRCh37 3 48450875 48450875 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000358536.4:c.5949G>C p.Leu1983= p.L1983= ENST00000358536 NM_002673.4 1983 ctG/ctC 0 Silent C 29 PLXNB1 SNP 3 C G 48425879 48425879 WashU USP19 10869 genome.wustl.edu GRCh37 3 49148251 49148251 + synonymous_variant Silent SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000434032.2:c.3585G>T p.Leu1195= p.L1195= ENST00000434032 NM_001199160.1 1195 ctG/ctT 0 Silent C 17 USP19 SNP 3 C A 49123255 49123255 WashU SCG3 29106 genome.wustl.edu GRCh37 15 51973988 51973988 + synonymous_variant Silent SNP G G C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000220478.3:c.36G>C p.Val12= p.V12= ENST00000220478 NM_013243.3 12 gtG/gtC 0 Silent G 48 SCG3 SNP 15 G C 49761280 49761280 WashU MYO5C 55930 genome.wustl.edu GRCh37 15 52571799 52571799 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261839.7:c.211G>A p.Asp71Asn p.D71N ENST00000261839 NM_018728.3 71 Gac/Aac 0 Missense_Mutation C 29 MYO5C SNP 15 C T 50359091 50359091 WashU FOSB 2354 genome.wustl.edu GRCh37 19 45974102 45974102 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000353609.3:c.342T>G p.Ser114Arg p.S114R ENST00000353609 NM_006732.2 114 agT/agG 0 Missense_Mutation T 59 FOSB SNP 19 T G 50665942 50665942 WashU BMP15 9210 genome.wustl.edu GRCh37 X 50659305 50659305 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000252677.3:c.877C>A p.Leu293Ile p.L293I ENST00000252677 NM_005448.2 293 Ctc/Atc 0 Missense_Mutation C 24 BMP15 SNP 23 A A 50676045 50676045 WashU PKHD1 5314 genome.wustl.edu GRCh37 6 51483974 51483974 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000371117.3:c.12130T>G p.Leu4044Val p.L4044V ENST00000371117 NM_138694.3 4044 Ttg/Gtg 0 Missense_Mutation A 3 PKHD1 SNP 6 A C 51591933 51591933 WashU C5AR1 728 genome.wustl.edu GRCh37 19 47824003 47824003 + missense_variant Missense_Mutation SNP G G T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000355085.3:c.969G>T p.Leu323Phe p.L323F ENST00000355085 NM_001736.3 323 ttG/ttT 0 Missense_Mutation G 45 C5AR1 SNP 19 G T 52515843 52515843 WashU RB1CC1 9821 genome.wustl.edu GRCh37 8 53555089 53555089 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000025008.5:c.4159G>T p.Glu1387Ter p.E1387* ENST00000025008 NM_014781.4 1387 Gaa/Taa 0 Nonsense_Mutation C 32 RB1CC1 SNP 8 C A 53717642 53717642 WashU VSTM2A 222008 genome.wustl.edu GRCh37 7 54617710 54617710 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000407838.3:c.481G>A p.Glu161Lys p.E161K ENST00000407838 NM_182546.2 161 Gaa/Aaa 0 Missense_Mutation G 37 VSTM2A SNP 7 G A 54585204 54585204 WashU IKZF4 64375 genome.wustl.edu GRCh37 12 56428533 56428533 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262032.5:c.1176C>G p.Ile392Met p.I392M ENST00000262032 392 atC/atG 0 Missense_Mutation C 32 IKZF4 SNP 12 C G 54714800 54714800 WashU OR4A13P 81330 genome.wustl.edu GRCh37 11 55234749 55234749 + non_coding_transcript_exon_variant RNA SNP G G T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000529316.1:n.503G>T *168* ENST00000529316 0 Missense_Mutation G 42 OR4A13P SNP 11 G T 54991325 54991325 WashU CACNA2D3 55799 genome.wustl.edu GRCh37 3 55021779 55021779 + stop_gained,splice_region_variant Nonsense_Mutation SNP A A T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000474759.1:c.2689A>T p.Arg897Ter p.R897* ENST00000474759 NM_018398.2 897 Aga/Tga 0 Nonsense_Mutation A 3 CACNA2D3 SNP 3 A T 54996819 54996819 WashU RP1 6101 genome.wustl.edu GRCh37 8 55539655 55539655 + synonymous_variant Silent SNP A A C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000220676.1:c.3213A>C p.Val1071= p.V1071= ENST00000220676 NM_006269.1 1071 gtA/gtC 0 Silent A 15 RP1 SNP 8 A C 55702208 55702208 WashU OR5AK2 390181 genome.wustl.edu GRCh37 11 56757317 56757317 + stop_lost Nonstop_Mutation SNP A A C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000326855.2:c.929A>C p.Ter310SerextTer6 p.*310Sext*6 ENST00000326855 NM_001005323.1 310 tAa/tCa 0 Nonstop_Mutation A 13 OR5AK2 SNP 11 A C 56513893 56513893 WashU PDHB 5162 genome.wustl.edu GRCh37 3 58414285 58414285 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000302746.6:c.849C>T p.Val283= p.V283= ENST00000302746 NM_000925.3 283 gtC/gtT 0 Silent G 45 PDHB SNP 3 G A 58389325 58389325 WashU SYVN1 84447 genome.wustl.edu GRCh37 11 64897274 64897274 + missense_variant Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000377190.3:c.1522C>T p.Arg508Cys p.R508C ENST00000377190 NM_172230.2 508 Cgt/Tgt 0 Missense_Mutation G 38 SYVN1 SNP 11 G A 64653850 64653850 WashU FCHSD2 9873 genome.wustl.edu GRCh37 11 72554254 72554254 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409418.4:c.1647G>A p.Thr549= p.T549= ENST00000409418 NM_014824.2 549 acG/acA 0 Silent C 19 FCHSD2 SNP 11 C T 72231902 72231902 WashU PDZRN3 23024 genome.wustl.edu GRCh37 3 73433881 73433881 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000263666.4:c.1836C>T p.Thr612= p.T612= ENST00000263666 NM_015009.1 612 acC/acT 0 Silent G 35 PDZRN3 SNP 3 G A 73516571 73516571 WashU ANAPC16 119504 genome.wustl.edu GRCh37 10 73983804 73983804 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299381.4:c.132G>C p.Glu44Asp p.E44D ENST00000299381 NM_173473.3 44 gaG/gaC 0 Missense_Mutation G 33 ANAPC16 SNP 10 G C 73653810 73653810 WashU LRRIQ3 127255 genome.wustl.edu GRCh37 1 74506970 74506970 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000354431.4:c.1645A>T p.Ser549Cys p.S549C ENST00000354431 NM_001105659.1 549 Agc/Tgc 0 Missense_Mutation T 56 LRRIQ3 SNP 1 A A 74279558 74279558 WashU PLCG2 5336 genome.wustl.edu GRCh37 16 81971416 81971416 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000359376.3:c.3106T>G p.Tyr1036Asp p.Y1036D ENST00000359376 NM_002661.3 1036 Tac/Gac 0 Missense_Mutation T 53 PLCG2 SNP 16 T G 80528917 80528917 WashU FLRT2 23768 genome.wustl.edu GRCh37 14 86089004 86089004 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000330753.4:c.1146G>A p.Gln382= p.Q382= ENST00000330753 NM_013231.4 382 caG/caA 0 Silent G 34 FLRT2 SNP 14 A A 85158757 85158757 WashU COL24A1 255631 genome.wustl.edu GRCh37 1 86524812 86524812 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000370571.2:c.1798G>T p.Gly600Cys p.G600C ENST00000370571 NM_152890.5 600 Ggc/Tgc 0 Missense_Mutation C 21 COL24A1 SNP 1 A A 86297400 86297400 WashU KDM3A 55818 genome.wustl.edu GRCh37 2 86709168 86709168 + synonymous_variant Silent SNP C C G novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000409556.1:c.2628C>G p.Pro876= p.P876= ENST00000409556 876 ccC/ccG 0 Silent C 23 KDM3A SNP 2 C G 86562679 86562679 WashU TMEM67 91147 genome.wustl.edu GRCh37 8 94809683 94809683 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000453321.3:c.2085C>T p.Val695= p.V695= ENST00000453321 NM_153704.5 695 gtC/gtT 0 Silent C 30 TMEM67 SNP 8 C T 94878859 94878859 WashU HAL 3034 genome.wustl.edu GRCh37 12 96370402 96370402 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261208.3:c.1737C>T p.Val579= p.V579= ENST00000261208 NM_002108.3 579 gtC/gtT 0 Silent G 33 HAL SNP 12 G A 94894533 94894533 WashU CEP57 9702 genome.wustl.edu GRCh37 11 95564199 95564199 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000325542.5:c.1282C>A p.Gln428Lys p.Q428K ENST00000325542 NM_001243776.1 428 Cag/Aag 0 Missense_Mutation C 17 CEP57 SNP 11 C A 95203847 95203847 WashU GPRASP2 114928 genome.wustl.edu GRCh37 X 101971320 101971320 + missense_variant Missense_Mutation SNP T T G novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000543253.1:c.1523T>G p.Phe508Cys p.F508C ENST00000543253 NM_001184874.2 508 tTc/tGc 0 Missense_Mutation T 62 GPRASP2 SNP 23 G G 101857976 101857976 WashU SLC10A2 6555 genome.wustl.edu GRCh37 13 103718247 103718247 + stop_gained Nonsense_Mutation SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000245312.3:c.353G>A p.Trp118Ter p.W118* ENST00000245312 NM_000452.2 118 tGg/tAg 0 Nonsense_Mutation C 21 SLC10A2 SNP 13 T T 102516248 102516248 WashU TCP11L2 255394 genome.wustl.edu GRCh37 12 106715367 106715367 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000299045.3:c.518T>C p.Val173Ala p.V173A ENST00000299045 NM_152772.1 173 gTt/gCt 0 Missense_Mutation T 60 TCP11L2 SNP 12 T C 105239497 105239497 WashU HACE1 57531 genome.wustl.edu GRCh37 6 105198338 105198338 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000262903.4:c.2221G>C p.Val741Leu p.V741L ENST00000262903 NM_020771.3 741 Gtc/Ctc 0 Missense_Mutation C 19 HACE1 SNP 6 C G 105305031 105305031 WashU TMEM38B 55151 genome.wustl.edu GRCh37 9 108467893 108467893 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000374692.3:c.128C>A p.Ala43Glu p.A43E ENST00000374692 NM_018112.2 43 gCa/gAa 0 Missense_Mutation C 25 TMEM38B SNP 9 C A 107507714 107507714 WashU RSPO2 340419 genome.wustl.edu GRCh37 8 109001330 109001330 + synonymous_variant Silent SNP T T A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000276659.5:c.237A>T p.Pro79= p.P79= ENST00000276659 NM_178565.4 79 ccA/ccT 0 Silent T 51 RSPO2 SNP 8 T A 109070506 109070506 WashU LAMA4 3910 genome.wustl.edu GRCh37 6 112443318 112443318 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000230538.7:c.4374C>T p.His1458= p.H1458= ENST00000230538 NM_001105206.2 1458 caC/caT 0 Silent G 44 LAMA4 SNP 6 G A 112550011 112550011 WashU CADM1 23705 genome.wustl.edu GRCh37 11 115049427 115049427 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000452722.3:c.1147G>T p.Val383Leu p.V383L ENST00000452722 NM_014333.3 383 Gtg/Ttg 0 Missense_Mutation C 18 CADM1 SNP 11 C A 114554637 114554637 WashU TNFSF8 944 genome.wustl.edu GRCh37 9 117666273 117666273 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000223795.2:c.643G>A p.Asp215Asn p.D215N ENST00000223795 NM_001244.3 215 Gat/Aat 0 Missense_Mutation C 32 TNFSF8 SNP 9 C T 116706094 116706094 WashU REG4 83998 genome.wustl.edu GRCh37 1 120337249 120337249 + stop_gained Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000354219.1:c.469C>T p.Arg157Ter p.R157* ENST00000354219 NM_001159352.1 157 Cga/Tga 0 Nonsense_Mutation G 39 REG4 SNP 1 G A 120138772 120138772 WashU USP53 54532 genome.wustl.edu GRCh37 4 120189479 120189479 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000450251.1:c.1192G>C p.Asp398His p.D398H ENST00000450251 398 Gat/Cat 0 Missense_Mutation G 45 USP53 SNP 4 G C 120408927 120408927 WashU PTPRZ1 5803 genome.wustl.edu GRCh37 7 121651099 121651099 + stop_gained Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000393386.2:c.1999G>T p.Gly667Ter p.G667* ENST00000393386 NM_001206838.1 667 Gga/Tga 0 Nonsense_Mutation G 47 PTPRZ1 SNP 7 G T 121438335 121438335 WashU SCN3B 55800 genome.wustl.edu GRCh37 11 123508916 123508916 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000392770.2:c.562G>A p.Glu188Lys p.E188K ENST00000392770 NM_018400.3 188 Gaa/Aaa 0 Missense_Mutation C 31 SCN3B SNP 11 C T 123014126 123014126 WashU TENM1 10178 genome.wustl.edu GRCh37 X 123631096 123631096 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422452.2:c.3465T>A p.Asn1155Lys p.N1155K ENST00000422452 NM_001163279.1 1155 aaT/aaA 0 Missense_Mutation A 8 ODZ1 SNP 23 T T 123458777 123458777 WashU KIAA1109 84162 genome.wustl.edu GRCh37 4 123267859 123267859 + missense_variant Missense_Mutation SNP A A G novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000264501.4:c.12815A>G p.Tyr4272Cys p.Y4272C ENST00000264501 4272 tAt/tGt 0 Missense_Mutation A 16 KIAA1109 SNP 4 A G 123487309 123487309 WashU FAT4 79633 genome.wustl.edu GRCh37 4 126408729 126408729 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000394329.3:c.13046C>T p.Pro4349Leu p.P4349L ENST00000394329 NM_024582.4 4349 cCa/cTa 0 Missense_Mutation C 21 FAT4 SNP 4 C T 126628179 126628179 WashU TMEM132D 121256 genome.wustl.edu GRCh37 12 129566556 129566556 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000422113.2:c.1671G>A p.Glu557= p.E557= ENST00000422113 NM_133448.2 557 gaG/gaA 0 Silent C 24 TMEM132D SNP 12 C T 128132509 128132509 WashU NCKAP5 344148 genome.wustl.edu GRCh37 2 133541439 133541439 + missense_variant Missense_Mutation SNP A A T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000409261.1:c.2945T>A p.Ile982Asn p.I982N ENST00000409261 NM_207363.2 982 aTt/aAt 0 Missense_Mutation A 4 NCKAP5 SNP 2 A T 133257909 133257909 WashU MAP3K5 4217 genome.wustl.edu GRCh37 6 137019626 137019626 + splice_donor_variant Splice_Site SNP C C G novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000359015.4:c.806+1G>C p.X269_splice ENST00000359015 NM_005923.3 0 Splice_Site_SNP C 18 MAP3K5 SNP 6 C G 137061319 137061319 WashU WNT8A 7478 genome.wustl.edu GRCh37 5 137419943 137419943 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000398754.1:c.73G>C p.Val25Leu p.V25L ENST00000398754 NM_058244.2 25 Gtg/Ctg 0 Missense_Mutation G 36 WNT8A SNP 5 G C 137447842 137447842 WashU FAM53C 51307 genome.wustl.edu GRCh37 5 137682561 137682561 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000239906.5:c.1092G>T p.Val364= p.V364= ENST00000239906 NM_016605.2 364 gtG/gtT 0 Silent G 46 FAM53C SNP 5 G T 137710460 137710460 WashU PCDHGA5 56110 genome.wustl.edu GRCh37 5 140745791 140745791 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000518069.1:c.1894C>A p.Leu632Met p.L632M ENST00000518069 NM_018918.2 632 Ctg/Atg 0 Missense_Mutation C 24 PCDHGA5 SNP 5 C A 140725975 140725975 WashU BCL9 607 genome.wustl.edu GRCh37 1 147092631 147092631 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000234739.3:c.2670G>T p.Ser890= p.S890= ENST00000234739 NM_004326.3 890 tcG/tcT 0 Silent G 38 BCL9 SNP 1 G T 145559255 145559255 WashU RFX5 5993 genome.wustl.edu GRCh37 1 151314685 151314685 + missense_variant Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000290524.4:c.1828G>A p.Asp610Asn p.D610N ENST00000290524 NM_000449.3 610 Gac/Aac 0 Missense_Mutation C 32 RFX5 SNP 1 C T 149581309 149581309 WashU NPR1 4881 genome.wustl.edu GRCh37 1 153659678 153659678 + splice_region_variant,synonymous_variant Splice_Region SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368680.3:c.1938C>A p.Gly646= p.G646= ENST00000368680 NM_000906.3 646 ggC/ggA 0 Silent C 25 NPR1 SNP 1 C A 151926302 151926302 WashU RIF1 55183 genome.wustl.edu GRCh37 2 152319991 152319991 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000243326.5:c.3957A>C p.Glu1319Asp p.E1319D ENST00000243326 1319 gaA/gaC 0 Missense_Mutation A 3 RIF1 SNP 2 A C 152028237 152028237 WashU SYNE1 23345 genome.wustl.edu GRCh37 6 152683379 152683379 + stop_gained Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000367255.5:c.10225G>T p.Glu3409Ter p.E3409* ENST00000367255 NM_182961.3 3409 Gaa/Taa 0 Nonsense_Mutation C 30 SYNE1 SNP 6 A A 152725072 152725072 WashU NTRK1 4914 genome.wustl.edu GRCh37 1 156849010 156849010 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000524377.1:c.1902C>T p.Val634= p.V634= ENST00000524377 NM_002529.3 634 gtC/gtT 0 Silent C 31 NTRK1 SNP 1 C T 155115634 155115634 WashU KIRREL 55243 genome.wustl.edu GRCh37 1 158061246 158061246 + synonymous_variant Silent SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000359209.6:c.1371C>T p.Thr457= p.T457= ENST00000359209 457 acC/acT 0 Silent C 21 KIRREL SNP 1 C T 156327870 156327870 WashU CD1B 910 genome.wustl.edu GRCh37 1 158299162 158299162 + missense_variant,splice_region_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000368168.3:c.884G>T p.Trp295Leu p.W295L ENST00000368168 NM_001764.2 295 tGg/tTg 0 Missense_Mutation C 21 CD1B SNP 1 C A 156565786 156565786 WashU C1orf226 400793 genome.wustl.edu GRCh37 1 162353375 162353375 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000426197.2:c.850C>G p.Leu284Val p.L284V ENST00000426197 NM_001135240.1 284 Ctg/Gtg 0 Missense_Mutation C 24 C1orf226 SNP 1 C G 160619999 160619999 WashU GABRG2 2566 genome.wustl.edu GRCh37 5 161531031 161531031 + splice_region_variant,synonymous_variant Splice_Region SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000414552.2:c.888C>A p.Ser296= p.S296= ENST00000414552 NM_198903.2 296 tcC/tcA 0 Silent C 23 GABRG2 SNP 5 C A 161463609 161463609 WashU PLD1 5337 genome.wustl.edu GRCh37 3 171404519 171404519 + missense_variant Missense_Mutation SNP T T A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000351298.4:c.1823A>T p.His608Leu p.H608L ENST00000351298 NM_002662.4 608 cAc/cTc 0 Missense_Mutation T 59 PLD1 SNP 3 T A 172887213 172887213 WashU RUFY1 80230 genome.wustl.edu GRCh37 5 179036423 179036423 + missense_variant Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000319449.4:c.2030G>C p.Ser677Thr p.S677T ENST00000319449 NM_025158.4 677 aGc/aCc 0 Missense_Mutation G 34 RUFY1 SNP 5 G C 178969029 178969029 WashU TEDDM1 127670 genome.wustl.edu GRCh37 1 182369354 182369354 + missense_variant Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367565.1:c.267G>C p.Lys89Asn p.K89N ENST00000367565 NM_172000.3 89 aaG/aaC 0 Missense_Mutation C 32 TEDDM1 SNP 1 C G 180635977 180635977 WashU FRZB 2487 genome.wustl.edu GRCh37 2 183703158 183703158 + missense_variant Missense_Mutation SNP T T C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000295113.4:c.776A>G p.Tyr259Cys p.Y259C ENST00000295113 NM_001463.3 259 tAt/tGt 0 Missense_Mutation T 49 FRZB SNP 2 T C 183411403 183411403 WashU HECW2 57520 genome.wustl.edu GRCh37 2 197184552 197184552 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000260983.3:c.1062C>T p.Asp354= p.D354= ENST00000260983 NM_020760.1 354 gaC/gaT 0 Silent G 40 HECW2 SNP 2 G A 196892797 196892797 WashU NR5A2 2494 genome.wustl.edu GRCh37 1 200089981 200089981 + missense_variant Missense_Mutation SNP A A C novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000367362.3:c.1276A>C p.Asn426His p.N426H ENST00000367362 NM_205860.2 426 Aac/Cac 0 Missense_Mutation A 5 NR5A2 SNP 1 A C 198356604 198356604 WashU CACNA1S 779 genome.wustl.edu GRCh37 1 201060858 201060858 + synonymous_variant Silent SNP G G A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000362061.3:c.604C>T p.Leu202= p.L202= ENST00000362061 NM_000069.2 202 Ctg/Ttg 0 Silent G 34 CACNA1S SNP 1 G A 199327481 199327481 WashU RYR2 6262 genome.wustl.edu GRCh37 1 237965198 237965198 + synonymous_variant Silent SNP A A T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366574.2:c.14133A>T p.Gly4711= p.G4711= ENST00000366574 NM_001035.2 4711 ggA/ggT 0 Silent A 11 RYR2 SNP 1 A T 236031821 236031821 WashU ADSS 159 genome.wustl.edu GRCh37 1 244587341 244587341 + synonymous_variant Silent SNP G G T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000366535.3:c.495C>A p.Gly165= p.G165= ENST00000366535 NM_001126.3 165 ggC/ggA 0 Silent G 46 ADSS SNP 1 G T 242653964 242653964 WashU FBXL5 26234 genome.wustl.edu GRCh37 4 15628522 15628531 + frameshift_variant Frame_Shift_Del DEL AGTCTGGGTA AGTCTGGGTA - novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 AGTCTGGGTA AGTCTGGGTA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000341285.3:c.1089_1098del p.Gln365PhefsTer34 p.Q365Ffs*34 ENST00000341285 NM_001193534.1 363 ctTACCCAGACT/ct 0 Frame_Shift_Del AGTCTGGGTA 7 FBXL5 DEL 4 AGTCTGGGTA - 15237629 15237620 WashU PARD3 56288 genome.wustl.edu GRCh37 10 34620237 34620248 + inframe_deletion In_Frame_Del DEL GACCCAGGGAAG GACCCAGGGAAG - novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 GACCCAGGGAAG GACCCAGGGAAG GACCCAGGGAAG - GACCCAGGGAAG GACCCAGGGAAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000374789.3:c.2639_2650del p.Pro880_Gly883del p.P880_G883del ENST00000374789 NM_019619.3 880 cCTTCCCTGGGTCtg/ctg 0 In_Frame_Del GACCCAGGGAAG 33 PARD3 DEL 10 GACCCAGGGAAG - 34660254 34660243 WashU ZNF527 84503 genome.wustl.edu GRCh37 19 37879442 37879449 + frameshift_variant Frame_Shift_Del DEL AATTTAGT AATTTAGT - novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 AATTTAGT AATTTAGT AATTTAGT - AATTTAGT AATTTAGT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000436120.2:c.495_502del p.Ser166TrpfsTer24 p.S166Wfs*24 ENST00000436120 NM_032453.1 164 gAATTTAGT/g 0 Frame_Shift_Del AATTTAGT 9 ZNF527 DEL 19 AATTTAGT - 42571289 42571282 WashU hsa-mir-7162 genome.wustl.edu GRCh37 15 62540731 62540749 + splice_acceptor_variant,non_coding_transcript_exon_variant,intron_variant Splice_Site DEL GCTGTTGCTACGGCCAGAG GCTGTTGCTACGGCCAGAG - novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 GCTGTTGCTACGGCCAGAG GCTGTTGCTACGGCCAGAG - - GCTGTTGCTACGGCCAGAG - Unknown Valid LOH 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000429274.2:n.29-12_35del p.X10_splice ENST00000429274 0 Frame_Shift_Del GCTGTTGCTACGGCCAGAG 46 ENSG00000166104 DEL 15 GCTGTTGCTACGGCCAGAG - 60328041 60328023 WashU NAA35 60560 genome.wustl.edu GRCh37 9 88557111 88557111 + frameshift_variant Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000361671.5:c.38del p.Gly13AspfsTer31 p.G13Dfs*31 ENST00000361671 NM_024635.3 13 Gga/ga 0 Frame_Shift_Del G 35 NAA35 DEL 9 G - 87746931 87746931 WashU ACPP 55 genome.wustl.edu GRCh37 3 132075559 132075579 + inframe_deletion In_Frame_Del DEL ATGAGACGCAGCACGAGCCGT ATGAGACGCAGCACGAGCCGT - novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 ATGAGACGCAGCACGAGCCGT ATGAGACGCAGCACGAGCCGT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ENST00000351273.7:c.1000_1020del p.Glu334_Tyr340del p.E334_Y340del ENST00000351273 NM_001134194.1 333 aATGAGACGCAGCACGAGCCGTat/aat 0 In_Frame_Del ATGAGACGCAGCACGAGCCGT 4 ACPP DEL 3 ATGAGACGCAGCACGAGCCGT - 133558269 133558249 WashU SMC1B 27127 genome.wustl.edu GRCh37 22 45789614 45789614 + missense_variant Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C A C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx ENST00000357450.4:c.1445G>T p.Ser482Ile p.S482I ENST00000357450 NM_148674.3 482 aGt/aTt 0 Missense_Mutation C 20 SMC1B SNP 22 A C 44168278 44168278 WashU GPR133 283383 genome.wustl.edu GRCh37 12 131487330 131487330 + intron_variant Intron SNP C C T novel Unknown TCGA-13-1498-01 TCGA-13-1498-10 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ENST00000261654.5:c.1027-400C>T *343* ENST00000261654 NM_198827.3 0 Missense_Mutation C 21 GPR133 SNP 12 C T 130053283 130053283 WashU uc003vyo.2 genome.wustl.edu GRCh37 7 142162009 142162009 null Missense_Mutation SNP C C A novel Unknown TCGA-13-1489-01 TCGA-13-1489-10 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 0 Missense_Mutation C 18 uc003vyo.2 SNP 7 C A 141838407 141838407 WashU ENSG00000211729 genome.wustl.edu GRCh37 7 142124206 142124206 null Missense_Mutation SNP A A G novel Unknown TCGA-13-0755-01 TCGA-13-0755-10 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 0 Missense_Mutation A 12 ENSG00000211729 SNP 7 A G 141876211 141876211 WashU uc003vym.2 genome.wustl.edu GRCh37 7 142180807 142180807 null Missense_Mutation SNP C C A novel Unknown TCGA-13-1491-01 TCGA-13-1491-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0 Missense_Mutation C 30 uc003vym.2 SNP 7 C A 141819621 141819621 WashU FAM70B broad.mit.edu GRCh37 13 114514803 114514803 null Missense_Mutation SNP G G A novel Unknown TCGA-61-2101-01 TCGA-61-2101-11 Unknown Unknown Unknown x x x 0 Missense_Mutation G 43 FAM70B SNP 13 G A 113599140 113599140 Broad MAGEA11 4110 broad.mit.edu GRCh37 X 148797718 148797718 null Missense_Mutation SNP C C T novel Unknown TCGA-24-2288-01 TCGA-24-2288-10 Unknown Unknown Unknown x x x 0 Missense_Mutation C 28 MAGEA11 SNP 23 C T 148576687 148576687 Broad POLR2J3 548644 genome.wustl.edu GRCh37 7 102210320 102210320 null Missense_Mutation SNP C C G novel Unknown TCGA-24-0982-01 TCGA-24-0982-10 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0 Missense_Mutation C 29 POLR2J3 SNP 7 C G 101997426 101997426 WashU STK32C 282974 hgsc.bcm.edu GRCh37 10 134039035 134039037 + coding_sequence_variant Missense_Mutation TNP GTA GTA CNT novel Unknown TCGA-13-0714-01 TCGA-13-0714-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID ENST00000298630 NM_173575.2 256 TAC/ANG 0 Missense GNA 48 STK32C Complex_substitution 10 GNA CNT 133889027 133889025 Baylor FAM70B hgsc.bcm.edu GRCh37 13 114469115 114469115 null Missense_Mutation SNP G G A novel Unknown TCGA-04-1337-01 TCGA-04-1337-11 G G . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID 0 Missense_Mutation G 37 FAM70B SNP 13 G A 113644828 113644828 Baylor PPHLN1 51535 hgsc.bcm.edu GRCh37 12 42836530 42836530 null Missense_Mutation SNP A A A novel Unknown TCGA-25-1318-01 TCGA-25-1318-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture Unknown . . SOLID 0 Missense_Mutation A 11 PPHLN1 SNP 12 A A 41122797 41122797 Baylor MAGEA11 4110 broad.mit.edu GRCh37 X 148797459 148797459 null Missense_Mutation SNP C C A novel Unknown TCGA-61-2092-01 TCGA-61-2092-11 Unknown Unknown Unknown x x x 0 Missense_Mutation C 29 MAGEA11 SNP 23 C A 148576946 148576946 Broad MAGEA11 4110 genome.wustl.edu GRCh37 X 148797720 148797720 null Missense_Mutation SNP G G T novel Unknown TCGA-24-1563-01 TCGA-24-1563-10 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 0 Missense_Mutation G 35 MAGEA11 SNP 23 G T 148576685 148576685 WashU