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 C1orf168 199920 genome.wustl.edu 37 1 57209923 57209923 + Silent SNP A A C novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_001004303.4 -1 validated p.V468 0.038 124 0% 134 41.8% - - - - - NULL ZNF281 23528 genome.wustl.edu 37 1 200378328 200378328 + Missense_Mutation SNP C C A novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_012482.3 -1 provisional p.G169V 0.383 24 0% 35 25.7% - - benign(0.225) deleterious(0) neutral(0.467) NULL HNRNPU-AS1 284702 genome.wustl.edu 37 1 245005933 245005935 + RNA DEL ATG ATG - rs143454146 byCluster;by1000genomes TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NR_026778.1 -1 predicted NULL 0.000:0.000:0.000 - - - - - - - - - - BCL2L11 10018 genome.wustl.edu 37 2 111921737 111921737 + Missense_Mutation SNP G G A novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_138621.3 +1 reviewed p.E176K 0.156 27 0% 37 51.4% - - possibly_damaging(0.837) tolerated(0.13) deleterious(0.572) NULL TTN 7273 genome.wustl.edu 37 2 179464474 179464474 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 ENST00000356127 -1 known p.W16148* 1.000 100 0% 100 12% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set COL4A4 1286 genome.wustl.edu 37 2 227876939 227876939 + Missense_Mutation SNP G G A novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_000092.4 -1 reviewed p.R1431C 0.244 40 0% 52 38.5% - - unknown(0) tolerated(0.08) - HMMPfam_Collagen CTNNB1 1499 genome.wustl.edu 37 3 41266101 41266101 + Missense_Mutation SNP C C T rs121913400 byCluster TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_001098209.1 +1 reviewed p.S33F 1.000 24 0% 39 51.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SDAD1 55153 genome.wustl.edu 37 4 76877148 76877148 + Missense_Mutation SNP G G A novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_018115.2 -1 validated p.R666C 1.000 205 0% 220 41.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SDA1 CASP6 839 genome.wustl.edu 37 4 110617581 110617581 + Missense_Mutation SNP G G A novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_001226.3 -1 reviewed p.L98F 0.008 30 0% 29 34.5% - - benign(0.008) deleterious(0.04) neutral(0.349) HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like TLR3 7098 genome.wustl.edu 37 4 187004556 187004556 + Silent SNP C C T novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_003265.2 +1 reviewed p.N572 0.172 64 0% 59 47.5% - - - - - HMMPfam_LRR_1,superfamily_SSF52058 TRIML1 339976 genome.wustl.edu 37 4 189063618 189063618 + Silent SNP G G A novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_178556.3 +1 provisional p.S239 0.000 39 0% 52 55.8% - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67591127 67591155 + Splice_Site DEL AGAAAGACGAGAGACCAATACTTGATGTA AGAAAGACGAGAGACCAATACTTGATGTA - novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 AGAAAGACGAGAGACCAATACTTGATGTA AGAAAGACGAGAGACCAATACTTGATGTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_181523.1 +1 reviewed e13-1 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.016:0.975:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.989:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - - PIK3R1 5295 genome.wustl.edu 37 5 67591270 67591271 + Frame_Shift_Ins INS - - G novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_181523.1 +1 reviewed p.Q591fs 0.998:1.000 - - - - - - - - - NULL PCSK1 5122 genome.wustl.edu 37 5 95728961 95728961 + Missense_Mutation SNP C C T novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_000439.4 -1 reviewed p.R669Q 0.989 79 0% 70 41.4% - - benign(0.038) deleterious(0.02) neutral(0.385) NULL BTNL2 56244 genome.wustl.edu 37 6 32370970 32370970 + Frame_Shift_Del DEL G G - rs139418003 byCluster;by1000genomes TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_019602.1 -1 provisional p.H151fs 0.944 - - - - - - - - - HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin ENSG00000247634 0 genome.wustl.edu 37 7 66416138 66416139 + RNA DEL TG TG - rs148803801 byCluster;by1000genomes TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 ENST00000500273 -1 known NULL 0.000:0.000 - - - - - - - - - - SAMD9L 219285 genome.wustl.edu 37 7 92763041 92763041 + Silent SNP G G A novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_152703.2 -1 validated p.T748 0.901 281 0% 269 16.7% - - - - - NULL NAMPT 10135 genome.wustl.edu 37 7 105909635 105909635 + Missense_Mutation SNP G G T novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_005746.2 -1 reviewed p.H191N 1.000 38 0% 34 41.2% - - possibly_damaging(0.839) tolerated(0.06) deleterious(0.643) HMMPfam_NAPRTase KCND2 3751 genome.wustl.edu 37 7 119914984 119914984 + Missense_Mutation SNP C C T novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_012281.2 +1 reviewed p.R100C 1.000 73 0% 22 36.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain CPA6 57094 genome.wustl.edu 37 8 68346315 68346315 + Silent SNP G G A novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_020361.4 -1 validated p.P333 0.957 67 0% 65 30.8% - - - - - HMMPfam_Peptidase_M14,HMMSmart_SM00631,PatternScan_CARBOXYPEPT_ZN_2,superfamily_Zn-dependent exopeptidases KCNQ3 3786 genome.wustl.edu 37 8 133150135 133150135 + Missense_Mutation SNP G G A novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_004519.2 -1 reviewed p.T566M 0.991 80 0% 59 44.1% - - probably_damaging(0.992) tolerated(0.1) deleterious(0.734) HMMPfam_KCNQ_channel IGFBPL1 347252 genome.wustl.edu 37 9 38414130 38414130 + Missense_Mutation SNP T T G novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_001007563.1 -1 provisional p.E177D 1.000 23 0% 17 23.5% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 NDUFA8 4702 genome.wustl.edu 37 9 124914687 124914687 + Missense_Mutation SNP C C T novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_014222.2 -1 reviewed p.V18M 1.000 43 0% 54 29.6% - - possibly_damaging(0.885) deleterious(0) deleterious(0.790) NULL ARID5B 84159 genome.wustl.edu 37 10 63852262 63852262 + Missense_Mutation SNP C C T novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_032199.2 +1 validated p.R1014C 1.000 45 0% 75 18.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RUFY2 55680 genome.wustl.edu 37 10 70161411 70161411 + Missense_Mutation SNP T T C novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_017987.4 -1 validated p.I123V 1.000 63 1.6% 48 37.5% - - benign(0.205) deleterious(0.01) neutral(0.426) HMMPfam_RUN PTEN 5728 genome.wustl.edu 37 10 89685303 89685303 + Missense_Mutation SNP G G T novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 ENST00000371953 +1 known p.K66N 1.000 29 0% 42 23.8% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Missense_Mutation SNP C C G rs121909224 byCluster TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 ENST00000371953 +1 known p.R130G 1.000 146 0% 187 49.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89717771 89717772 + Frame_Shift_Ins INS - - AAAAG novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 ENST00000371953 +1 known p.D268fs 1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 ATG13 9776 genome.wustl.edu 37 11 46690090 46690091 + Frame_Shift_Ins INS - - C novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_001142673.1 +1 validated p.K399fs 1.000:1.000 - - - - - - - - - HMMPfam_DUF2224 FNBP4 23360 genome.wustl.edu 37 11 47746246 47746246 + Nonsense_Mutation SNP G G C novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_015308.2 -1 validated p.S698* 1.000 101 0% 98 43.9% - - - - - NULL OR5M11 219487 genome.wustl.edu 37 11 56310354 56310354 + Missense_Mutation SNP T T C novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_001005245.1 -1 provisional p.D127G 0.038 69 0% 60 35% - - benign(0.007) deleterious(0.01) neutral(0.406) HMMPfam_7tm_1,superfamily_SSF81321 CASP1 834 genome.wustl.edu 37 11 104905837 104905837 + Frame_Shift_Del DEL C C - novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_033292.2 -1 reviewed p.A2fs 1.000 - - - - - - - - - HMMSmart_SM00114,superfamily_DEATH domain TMEM132D 121256 genome.wustl.edu 37 12 129566529 129566529 + Silent SNP G G A novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_133448.2 -1 validated p.R566 0.009 28 0% 19 36.8% - - - - - NULL MED4 29079 genome.wustl.edu 37 13 48660552 48660552 + Missense_Mutation SNP G G C novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_014166.2 -1 provisional p.Q77E 1.000 38 0% 59 44.1% - - benign(0.089) tolerated(0.12) neutral(0.267) HMMPfam_VDRIP COCH 1690 genome.wustl.edu 37 14 31355228 31355228 + Missense_Mutation SNP C C T novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_001135058.1 +1 reviewed p.T396I 0.736 81 0% 63 39.7% - - benign(0.003) tolerated(0.18) neutral(0.056) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like HIF1A 3091 genome.wustl.edu 37 14 62187113 62187113 + Missense_Mutation SNP C C G novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_001530.3 +1 validated p.R17G 1.000 95 0% 90 37.8% - - possibly_damaging(0.951) deleterious(0) deleterious(0.839) superfamily_HLH helix-loop-helix DNA-binding domain ACSM1 116285 genome.wustl.edu 37 16 20651860 20651860 + Missense_Mutation SNP C C T novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_052956.2 -1 validated p.V347M 0.639 64 0% 35 34.3% - - benign(0) deleterious(0.03) neutral(0.364) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like VMO1 284013 genome.wustl.edu 37 17 4689195 4689195 + Splice_Site DEL C C - rs146654793 byCluster;by1000genomes TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_001144939.1 -1 validated e2+1 0.000 - - - - - - - - - - SHBG 6462 genome.wustl.edu 37 17 7534600 7534600 + Missense_Mutation SNP C C T novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_001040.3 +1 reviewed p.P159L 0.041 10 0% 14 64.3% - - possibly_damaging(0.539) tolerated(0.37) neutral(0.201) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_1 TEX2 55852 genome.wustl.edu 37 17 62290264 62290264 + Silent SNP C C T novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_018469.3 -1 validated p.K438 0.008 65 0% 47 36.2% - - - - - NULL SLC38A10 124565 genome.wustl.edu 37 17 79219501 79219503 + In_Frame_Del DEL ATG ATG - rs10569617 byCluster;by1000genomes TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_001037984.1 -1 validated p.I1072in_frame_del 0.113:0.154:0.221 - - - - - - - - - NULL SWSAP1 126074 genome.wustl.edu 37 19 11486286 11486286 + Missense_Mutation SNP T T G novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_175871.3 +1 validated p.L95R 0.748 84 0% 80 40% - - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) superfamily_SSF52540 ZNF440 126070 genome.wustl.edu 37 19 11942913 11942913 + Missense_Mutation SNP A A T novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_152357.2 +1 validated p.R308W 0.996 76 0% 99 19.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CYP4F2 8529 genome.wustl.edu 37 19 16001182 16001182 + Missense_Mutation SNP C C A novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_001082.3 -1 reviewed p.S196I 1.000 100 0% 90 15.6% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_p450,superfamily_Cytochrome_P450 ZNF626 199777 genome.wustl.edu 37 19 20829139 20829139 + Missense_Mutation SNP G G A novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_001076675.2 -1 validated p.R26W 0.084 246 0% 235 33.2% - - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) TMC4 147798 genome.wustl.edu 37 19 54666772 54666775 + Frame_Shift_Del DEL TTGT TTGT - novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 TTGT TTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_001145303.1 -1 validated p.K471fs 0.000:0.001:0.000:0.000 - - - - - - - - - NULL ARFGEF2 10564 genome.wustl.edu 37 20 47641925 47641925 + Missense_Mutation SNP C C G novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_006420.2 +1 reviewed p.L1611V 1.000 21 0% 19 21.1% - - possibly_damaging(0.833) deleterious(0.01) deleterious(0.723) NULL FAM48B2 170067 genome.wustl.edu 37 X 24330460 24330460 + Missense_Mutation SNP G G T novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_001136233.1 -1 provisional p.L325I 0.000 85 0% 102 40.2% - - - - - NULL SSX1 6756 genome.wustl.edu 37 X 48123284 48123284 + Missense_Mutation SNP A A T novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_005635.2 +1 reviewed p.Q133L 0.000 176 0% 223 38.6% - - possibly_damaging(0.465) tolerated(0.17) neutral(0.212) NULL ITIH6 347365 genome.wustl.edu 37 X 54817288 54817288 + Missense_Mutation SNP G G A novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_198510.2 -1 reviewed p.R200C 0.012 37 0% 44 52.3% - - benign(0.007) deleterious(0.02) neutral(0.383) NULL ATP7A 538 genome.wustl.edu 37 X 77276503 77276503 + Missense_Mutation SNP T T C novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_000052.4 +1 reviewed p.V948A 0.975 186 0% 169 36.7% - - benign(0.038) deleterious(0) neutral(0.447) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M TSPAN6 7105 genome.wustl.edu 37 X 99889014 99889014 + Missense_Mutation SNP A A C novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_003270.2 -1 reviewed p.F122V 1.000 50 0% 56 41.1% - - benign(0.017) deleterious(0.01) neutral(0.406) superfamily_Tetraspanin,HMMPfam_Tetraspannin LDOC1 23641 genome.wustl.edu 37 X 140271162 140271162 + Silent SNP C C T novel TCGA-A5-A0GU-01A-11W-A062-09 TCGA-A5-A0GU-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb64288b-814d-48dd-af43-e1c93b3b8014 83a3d599-b09f-4fc0-a7e5-3347778faa43 NM_012317.2 -1 reviewed p.R15 0.999 19 0% 18 38.9% - - - - - NULL