Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand 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 Tumor_Sample_UUID Matched_Norm_Sample_UUID transcript_name strand transcript_status amino_acid_change ucsc_cons normal_depth normal_vaf tumor_depth tumor_vaf rna_depth rna_vaf polyphen sift condel domain ARID1A 8289 genome.wustl.edu 37 1 27107144 27107145 + Frame_Shift_Del DEL CT CT - novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_006015.4 +1 reviewed p.L2253fs 1.000:0.966 - - - - - - - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27107150 27107156 + Frame_Shift_Del DEL ACGAATC ACGAATC - novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 ACGAATC ACGAATC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_006015.4 +1 reviewed p.E2255fs 1.000:0.857:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL LPPR4 9890 genome.wustl.edu 37 1 99753536 99753536 + Missense_Mutation SNP T T C novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_014839.4 +1 reviewed p.S80P 0.996 303 0% 227 26.9% - - probably_damaging(0.966) tolerated(0.07) deleterious(0.727) superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase CD1E 913 genome.wustl.edu 37 1 158324220 158324220 + Missense_Mutation SNP C C T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_030893.2 +1 reviewed p.R38C 0.001 227 0% 207 25.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_MHC antigen-recognition domain RNASEL 6041 genome.wustl.edu 37 1 182555014 182555014 + Missense_Mutation SNP G G A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_021133.2 -1 reviewed p.R310W 0.000 96 0% 68 16.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ank,superfamily_Ankyrin repeat GPR75 10936 genome.wustl.edu 37 2 54081461 54081461 + Missense_Mutation SNP G G A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_006794.2 -1 validated p.R145W 1.000 146 0.7% 93 25.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCDC88A 55704 genome.wustl.edu 37 2 55559789 55559789 + Missense_Mutation SNP T T C novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_001135597.1 -1 validated p.N923S 1.000 579 0% 509 27.3% - - benign(0.004) tolerated(1) - NULL TMEM150A 129303 genome.wustl.edu 37 2 85827094 85827094 + Missense_Mutation SNP G G A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_001031738.2 -1 validated p.R106W 1.000 92 1.1% 72 37.5% - - possibly_damaging(0.847) tolerated(0.19) neutral(0.374) HMMPfam_Frag1 IHH 3549 genome.wustl.edu 37 2 219920333 219920334 + Frame_Shift_Ins INS - - GAGCAGGG novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_002181.3 -1 reviewed p.F277fs 1.000:0.995 - - - - - - - - - HMMPfam_Hint,HMMSmart_SM00306,superfamily_Hedgehog/intein (Hint) domain CNTN4 152330 genome.wustl.edu 37 3 3067958 3067958 + Silent SNP A A T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_175607.1 +1 reviewed p.G553 1.000 308 0% 252 31.3% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PARP3 10039 genome.wustl.edu 37 3 51979926 51979926 + Missense_Mutation SNP C C T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_001003931.2 +1 reviewed p.H364Y 0.132 92 0% 92 19.6% - - benign(0.399) deleterious(0.03) deleterious(0.493) HMMPfam_PARP,superfamily_SSF56399 TOPBP1 11073 genome.wustl.edu 37 3 133342956 133342956 + Silent SNP C C T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_007027.3 -1 reviewed p.R956 0.944 398 0% 292 23.6% - - - - - HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain PIK3CA 5290 genome.wustl.edu 37 3 178916944 178916944 + Missense_Mutation SNP A A G novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_006218.2 +1 reviewed p.K111E 1.000 166 0% 101 31.7% - - probably_damaging(0.984) deleterious(0.04) deleterious(0.779) superfamily_SSF54236 PIK3CA 5290 genome.wustl.edu 37 3 178948044 178948044 + Missense_Mutation SNP A A G novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_006218.2 +1 reviewed p.D939G 1.000 191 0% 126 32.5% - - benign(0.006) tolerated(1) - HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like GABRA4 2557 genome.wustl.edu 37 4 46973109 46973109 + Missense_Mutation SNP T T C novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_000809.2 -1 reviewed p.T289A 1.000 171 0% 110 32.7% - - probably_damaging(0.988) tolerated(0.08) deleterious(0.738) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM LOC100288413 100288413 genome.wustl.edu 37 4 53611679 53611679 + Silent SNP G G C novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 XM_002342451.1 -1 model p.S3 0.420 121 0% 109 31.2% - - - - - NULL LOC644578 644578 genome.wustl.edu 37 4 64215845 64215845 + Missense_Mutation SNP G G A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 XM_927694.2 +1 model p.R165Q 1.000 217 0% 206 28.2% - - - - - NULL IL2 3558 genome.wustl.edu 37 4 123374885 123374885 + Missense_Mutation SNP C C A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_000586.3 -1 reviewed p.V111L 0.000 463 0% 375 24% - - benign(0.306) tolerated(0.18) neutral(0.151) HMMPfam_IL2,HMMSmart_SM00189,superfamily_4-helical cytokines GPM6A 2823 genome.wustl.edu 37 4 176561951 176561951 + Missense_Mutation SNP T T A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_005277.3 -1 validated p.I191F 1.000 420 0% 326 25.8% - - benign(0.014) deleterious(0) neutral(0.445) HMMPfam_Myelin_PLP,HMMSmart_SM00002 GCNT4 51301 genome.wustl.edu 37 5 74325746 74325746 + Silent SNP C C T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_016591.2 -1 validated p.P39 0.001 140 0% 111 29.7% - - - - - NULL MAT2B 27430 genome.wustl.edu 37 5 162943642 162943642 + Missense_Mutation SNP C C G novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_013283.3 +1 reviewed p.H215Q 1.000 298 0% 191 37.2% - - probably_damaging(0.991) tolerated(0.14) deleterious(0.694) HMMPfam_RmlD_sub_bind,superfamily_NAD(P)-binding Rossmann-fold domains B4GALT7 11285 genome.wustl.edu 37 5 177034457 177034457 + Missense_Mutation SNP C C T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_007255.2 +1 reviewed p.L190F 1.000 35 0% 31 19.4% - - possibly_damaging(0.526) tolerated(0.1) neutral(0.464) HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases PKHD1 5314 genome.wustl.edu 37 6 51637531 51637531 + Missense_Mutation SNP G G T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_138694.3 -1 reviewed p.L2871I 0.998 474 0.4% 447 27.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_G8 CPVL 54504 genome.wustl.edu 37 7 29152438 29152438 + Missense_Mutation SNP C C T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_019029.2 -1 reviewed p.G57E 0.976 168 0.6% 134 25.4% - - possibly_damaging(0.768) tolerated(0.13) deleterious(0.537) superfamily_alpha/beta-Hydrolases KCNK9 51305 genome.wustl.edu 37 8 140631178 140631178 + Missense_Mutation SNP G G A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_016601.2 -1 reviewed p.R150C 1.000 86 0% 108 31.5% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) superfamily_SSF81324 KAT6B 23522 genome.wustl.edu 37 10 76789602 76789602 + Missense_Mutation SNP G G A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_012330.2 +1 validated p.E1674K 1.000 74 0% 68 22.1% - - probably_damaging(0.987) - - NULL PTEN 5728 genome.wustl.edu 37 10 89692923 89692923 + Missense_Mutation SNP G G T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 ENST00000371953 +1 known p.C136F 1.000 390 0% 288 20.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DSPc,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II MUC5B 727897 genome.wustl.edu 37 11 1271703 1271703 + Silent SNP C C A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_002458.1 +1 validated p.G4534 0.000 540 0% 633 19% - - - - - NULL SBF2 81846 genome.wustl.edu 37 11 9874235 9874235 + Silent SNP C C T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_030962.3 -1 reviewed p.P866 0.900 277 0% 227 30% - - - - - NULL ANO3 63982 genome.wustl.edu 37 11 26681884 26681884 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_031418.2 +1 validated p.R947* 1.000 254 0% 159 33.3% - - - - - HMMPfam_DUF590 OR4A15 81328 genome.wustl.edu 37 11 55136133 55136133 + Missense_Mutation SNP G G C novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_001005275.1 +1 provisional p.L258F 0.000 478 0% 454 31.5% - - benign(0.057) deleterious(0.04) neutral(0.352) HMMPfam_7tm_1,superfamily_SSF81321 OR10G9 219870 genome.wustl.edu 37 11 123894500 123894500 + Missense_Mutation SNP C C A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_001001953.1 +1 provisional p.P261T 0.922 416 0% 399 32.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 GLB1L3 112937 genome.wustl.edu 37 11 134151937 134151937 + Silent SNP C C T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_001080407.2 +1 validated p.A150 0.011 105 0% 91 31.9% - - - - - HMMPfam_Glyco_hydro_35,superfamily_(Trans)glycosidases BEST3 144453 genome.wustl.edu 37 12 70070771 70070771 + Silent SNP G G A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_032735.2 -1 validated p.Y264 0.949 171 0% 101 23.8% - - - - - HMMPfam_Bestrophin GAS6 2621 genome.wustl.edu 37 13 114535848 114535848 + Missense_Mutation SNP C C T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 ENST00000357389 -1 known p.A281T 0.000 3 0.000 6 0.833 - - benign(0.003) deleterious(0.04) neutral(0.349) superfamily_Concanavalin A-like lectins/glucanases NUSAP1 51203 genome.wustl.edu 37 15 41643209 41643209 + Missense_Mutation SNP A A G novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_016359.3 +1 validated p.I110M 0.007 172 0% 121 29.8% - - benign(0.126) tolerated(0.2) neutral(0.060) NULL MAN2A2 4122 genome.wustl.edu 37 15 91450664 91450664 + Missense_Mutation SNP C C T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_006122.2 +1 validated p.R379C 1.000 78 0% 78 29.5% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_Glyco_hydro_38,superfamily_Glyco_hydro/deAcase_b/a-brl ABCA3 21 genome.wustl.edu 37 16 2338188 2338188 + Missense_Mutation SNP G G A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_001089.2 -1 reviewed p.S948L 1.000 50 0% 52 21.2% - - benign(0.005) tolerated(0.84) neutral(0.001) NULL AMDHD2 51005 genome.wustl.edu 37 16 2579481 2579481 + Missense_Mutation SNP G G A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_015944.3 +1 validated p.V413M 1.000 48 0% 44 31.8% - - possibly_damaging(0.874) deleterious(0) deleterious(0.784) HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase CTCF 10664 genome.wustl.edu 37 16 67662338 67662338 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_006565.2 +1 reviewed p.C528* 1.000 198 0% 197 28.9% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF469 84627 genome.wustl.edu 37 16 88494824 88494824 + Missense_Mutation SNP G G A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_001127464.1 +1 reviewed p.E316K 0.003 7 0.000 11 0.455 - - probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL RAP1GAP2 23108 genome.wustl.edu 37 17 2867192 2867192 + Missense_Mutation SNP C C A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_015085.4 +1 reviewed p.Q108K 1.000 49 0% 54 22.2% - - possibly_damaging(0.637) tolerated(0.08) deleterious(0.523) NULL PER1 5187 genome.wustl.edu 37 17 8051032 8051032 + Missense_Mutation SNP G G A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_002616.2 -1 reviewed p.R450C 1.000 29 0% 28 42.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAS_3,superfamily_PYP-like sensor domain (PAS domain) ELAC2 60528 genome.wustl.edu 37 17 12905832 12905832 + Missense_Mutation SNP T T C novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_018127.6 -1 reviewed p.S382G 1.000 468 0% 478 26.6% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL CDK5R1 8851 genome.wustl.edu 37 17 30815433 30815433 + Silent SNP C C T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_003885.2 +1 reviewed p.I265 1.000 175 0% 145 39.3% - - - - - HMMPfam_CDK5_activator,superfamily_Cyclin-like GPATCH8 23131 genome.wustl.edu 37 17 42541838 42541838 + Splice_Site SNP A A C novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_001002909.1 -1 validated e3+2 1.000 372 0.3% 312 23.7% - - - - - - BAHCC1 57597 genome.wustl.edu 37 17 79409985 79409985 + Missense_Mutation SNP G G A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 ENST00000436173 +1 known p.G537E 0.489 15 0% 16 31.2% - - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL CCBE1 147372 genome.wustl.edu 37 18 57136802 57136802 + Missense_Mutation SNP C C A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_133459.3 -1 reviewed p.Q101H 1.000 116 0% 88 29.5% - - probably_damaging(0.996) - - HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin LOC400682 400682 genome.wustl.edu 37 19 21838635 21838635 + Silent SNP T T C novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 XM_001726878.1 +1 model p.H120 0.673 55 0% 68 22.1% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MLL4 9757 genome.wustl.edu 37 19 36229292 36229292 + Missense_Mutation SNP C C T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_014727.1 +1 reviewed p.S2661F 1.000 101 0% 127 30.7% - - probably_damaging(1) - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain PSG11 5680 genome.wustl.edu 37 19 43529182 43529182 + Missense_Mutation SNP G G A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_002785.2 -1 validated p.P31S 0.001 346 0% 350 51.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_V-set TOX2 84969 genome.wustl.edu 37 20 42679966 42679966 + Silent SNP G G A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_001098797.1 +1 validated p.S144 0.998 30 0% 28 17.9% - - - - - NULL PFDN4 5203 genome.wustl.edu 37 20 52835581 52835581 + Silent SNP C C T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_002623.3 +1 reviewed p.D99 0.864 238 0% 147 21.8% - - - - - HMMPfam_Prefoldin_2,superfamily_Prefoldin BMP7 655 genome.wustl.edu 37 20 55840761 55840761 + Missense_Mutation SNP C C T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_001719.2 -1 reviewed p.V140M 0.999 23 0% 36 25% - - possibly_damaging(0.944) deleterious(0.02) deleterious(0.772) HMMPfam_TGFb_propeptide LOC729057 729057 genome.wustl.edu 37 22 16123783 16123783 + RNA SNP C C T rs8141038 TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 XR_042044.2 +1 model NULL 0.198 49 0% 55 10.9% - - - - - - TCEAL6 158931 genome.wustl.edu 37 X 101396021 101396021 + Missense_Mutation SNP G G A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_001006938.2 -1 validated p.R95W 0.001 334 0.3% 370 24.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TFA MAP7D3 79649 genome.wustl.edu 37 X 135301809 135301809 + Silent SNP G G C novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_024597.3 -1 reviewed p.T836 0.000 602 0% 562 27.8% - - - - - NULL GPR112 139378 genome.wustl.edu 37 X 135426787 135426787 + Missense_Mutation SNP G G A novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_153834.3 +1 reviewed p.D308N 0.000 384 0% 288 26.7% - - benign(0.005) tolerated(0.24) neutral(0.037) NULL BCAP31 10134 genome.wustl.edu 37 X 152966426 152966426 + Missense_Mutation SNP G G T novel TCGA-BS-A0V6-01A-11D-A122-09 TCGA-BS-A0V6-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfcbd004-49f9-4608-87bd-94c76fb8bb41 3bb254a7-a995-4bd3-b178-22491beafaf0 NM_001139457.1 -1 reviewed p.A303E 0.000 93 0% 96 28.1% - - benign(0.153) tolerated(0.15) neutral(0.255) NULL