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 MEGF6 1953 genome.wustl.edu 37 1 3411011 3411043 + In_Frame_Del DEL GTGGCAGGAGCACTCCAGATGGCAGGCGGCTCC GTGGCAGGAGCACTCCAGATGGCAGGCGGCTCC - novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 GTGGCAGGAGCACTCCAGATGGCAGGCGGCTCC GTGGCAGGAGCACTCCAGATGGCAGGCGGCTCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001409.3 -1 validated p.GAACHLECSCH1341in_frame_del 0.000:0.000:0.006:0.010:0.876:0.880:0.743:0.391:0.007:0.111:0.824:0.810:0.003:0.001:0.003:0.014:0.043:0.080:0.007:0.000:0.004:0.348:0.995:1.000:1.000:0.000:0.000:0.000:0.003:0.002:0.000:0.996:0.996 - - - - - - - - - HMMSmart_SM00180,superfamily_EGF/Laminin C1orf94 84970 genome.wustl.edu 37 1 34662916 34662916 + Silent SNP C C T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001134734.1 +1 validated p.V137 0.005 46 0% 27 22.2% 0 - - - - NULL CYP4A22 284541 genome.wustl.edu 37 1 47610098 47610098 + Missense_Mutation SNP G G A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001010969.2 +1 reviewed p.R287K 0.997 200 0.5% 85 25.9% 0 - benign(0.005) tolerated(0.89) - HMMPfam_p450,superfamily_Cytochrome P450 GLMN 11146 genome.wustl.edu 37 1 92731983 92731983 + Silent SNP A A G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_053274.2 -1 reviewed p.L403 0.996 177 0% 154 33.8% 0 - - - - HMMPfam_FKBP12 SMG7 9887 genome.wustl.edu 37 1 183513555 183513555 + Missense_Mutation SNP C C G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_173156.2 +1 validated p.T637S 1.000 170 0% 104 33.7% 2 100% benign(0.002) deleterious(0) neutral(0.445) NULL PLEKHA6 22874 genome.wustl.edu 37 1 204198103 204198103 + Missense_Mutation SNP G G C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_014935.2 -1 validated p.L905V 1.000 134 0% 66 30.3% 3 66.6% benign(0.001) tolerated(0.99) - NULL APOB 338 genome.wustl.edu 37 2 21249773 21249773 + Missense_Mutation SNP A A G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_000384.2 -1 reviewed p.F711L 1.000 146 0.7% 142 11.3% 0 - probably_damaging(0.993) - - HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions TTC27 55622 genome.wustl.edu 37 2 32875217 32875217 + Missense_Mutation SNP T T C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_017735.3 +1 provisional p.L186S 0.902 300 0% 215 49.3% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL XPO1 7514 genome.wustl.edu 37 2 61717816 61717816 + Silent SNP A A C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_003400.3 -1 reviewed p.P661 1.000 221 0.5% 271 17.7% 11 27.2% - - - superfamily_ARM-type_fold NAGK 55577 genome.wustl.edu 37 2 71297699 71297699 + Silent SNP C C T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_017567.4 +1 validated p.L33 1.000 123 0% 53 32.1% 16 31.2% - - - HMMPfam_BcrAD_BadFG,superfamily_SSF53067 TSGA10 80705 genome.wustl.edu 37 2 99695134 99695134 + Missense_Mutation SNP A A T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_025244.2 -1 validated p.S290R 1.000 208 0% 201 34.3% 0 - possibly_damaging(0.923) tolerated(0.05) deleterious(0.718) NULL DDX18 8886 genome.wustl.edu 37 2 118583956 118583956 + Missense_Mutation SNP A A C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_006773.3 +1 reviewed p.K545Q 1.000 169 0% 62 21% 2 50% benign(0.302) deleterious(0) deleterious(0.538) superfamily_SSF52540 KLHL23 151230 genome.wustl.edu 37 2 170592281 170592281 + Missense_Mutation SNP C C T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_144711.4 +1 validated p.R253C 0.178 72 0% 43 30.2% 1 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_Gal_oxid_central TTN 7273 genome.wustl.edu 37 2 179449918 179449918 + Missense_Mutation SNP G G T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c ENST00000356127 -1 known p.A18948E 1.000 352 0% 146 35.6% 0 - possibly_damaging(0.873) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set PDE1A 5136 genome.wustl.edu 37 2 183104837 183104837 + Missense_Mutation SNP C C T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_005019.3 -1 validated p.R133K 1.000 250 0% 187 31% 0 - probably_damaging(1) tolerated(0.22) deleterious(0.542) HMMPfam_PDEase_I_N PIKFYVE 200576 genome.wustl.edu 37 2 209179981 209179981 + Missense_Mutation SNP T T C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_015040.3 +1 reviewed p.S631P 1.000 79 0% 36 22.2% 0 - benign(0) tolerated(0.39) neutral(0.016) superfamily_GroEL-intermediate domain like IRS1 3667 genome.wustl.edu 37 2 227662488 227662488 + Missense_Mutation SNP A A C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_005544.2 -1 reviewed p.S323A 1.000 26 0% 19 31.6% 1 0% possibly_damaging(0.937) tolerated(0.15) deleterious(0.624) NULL ITPR1 3708 genome.wustl.edu 37 3 4712536 4712536 + Missense_Mutation SNP C C G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001099952.2 +1 reviewed p.S710R 0.353 176 0% 130 43.8% 1 0% benign(0.055) tolerated(0.14) neutral(0.253) NULL ANO10 55129 genome.wustl.edu 37 3 43474156 43474156 + Missense_Mutation SNP G G C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_018075.3 -1 validated p.Q621E 1.000 104 0% 29 48.3% 3 100% benign(0.02) tolerated(1) neutral(0.001) HMMPfam_DUF590 CD96 10225 genome.wustl.edu 37 3 111297916 111297916 + Missense_Mutation SNP C C T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_198196.2 +1 reviewed p.L212F 0.000 127 1.6% 65 21.5% 3 0% benign(0.145) tolerated(0.59) neutral(0.017) HMMSmart_SM00409,superfamily_Immunoglobulin PPP2R3A 5523 genome.wustl.edu 37 3 135742045 135742045 + Splice_Site SNP T T C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_181897.1 +1 reviewed e1+2 1.000 160 0% 64 35.9% 0 - - - - - LDB2 9079 genome.wustl.edu 37 4 16504492 16504492 + Missense_Mutation SNP A A C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001290.3 -1 validated p.V299G 1.000 179 0% 61 47.5% 1 0% probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_LIM_bind ARAP2 116984 genome.wustl.edu 37 4 36230699 36230699 + Missense_Mutation SNP C C A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_015230.2 -1 reviewed p.S137I 0.000 125 0% 69 15.9% 0 - benign(0.139) deleterious(0.03) neutral(0.377) NULL GNPDA2 132789 genome.wustl.edu 37 4 44724143 44724151 + In_Frame_Del DEL TGAACTGAA TGAACTGAA - novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 TGAACTGAA TGAACTGAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_138335.1 -1 provisional p.IQF25in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.992:1.000 - - - - - - - - - HMMPfam_Glucosamine_iso,superfamily_NagB/RpiA/CoA transferase-like PDGFRA 5156 genome.wustl.edu 37 4 55156513 55156513 + Missense_Mutation SNP A A G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_006206.4 +1 reviewed p.S972G 1.000 75 0% 51 39.2% 0 - possibly_damaging(0.912) tolerated(0.1) deleterious(0.650) NULL KIT 3815 genome.wustl.edu 37 4 55597568 55597568 + Missense_Mutation SNP G G A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_000222.2 +1 reviewed p.R739K 0.982 87 0% 46 23.9% 0 - benign(0.017) tolerated(0.28) neutral(0.032) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like FRAS1 80144 genome.wustl.edu 37 4 79462277 79462277 + Missense_Mutation SNP A A C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c ENST00000512123 +1 known p.L2241F 1.000 49 0% 21 47.6% 1 0% - - - NULL SYNPO2 171024 genome.wustl.edu 37 4 119978824 119978824 + Missense_Mutation SNP A A G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_133477.2 +1 validated p.E1174G 0.338 96 0% 39 46.2% 0 - benign(0.141) deleterious(0) neutral(0.457) NULL GYPB 2994 genome.wustl.edu 37 4 144938033 144938034 + Frame_Shift_Ins INS - - T rs11940948 byCluster;byFrequency;byHapMap;by1000genomes TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c ENST00000506679 -1 known p.D14fs 0.000:0.000 - - - - - - - - - NULL HEATR7B2 133558 genome.wustl.edu 37 5 41015494 41015494 + Missense_Mutation SNP T T C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_173489.4 -1 validated p.K991E 1.000 178 0% 73 26% 0 - possibly_damaging(0.892) tolerated(1) neutral(0.351) superfamily_ARM repeat PDGFRB 5159 genome.wustl.edu 37 5 149515296 149515296 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_002609.3 -1 reviewed p.W62* 1.000 48 0% 17 58.8% 1 0% - - - HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 NCR2 9436 genome.wustl.edu 37 6 41303862 41303862 + Missense_Mutation SNP T T A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_004828.3 +1 validated p.S30R 0.000 75 0% 26 57.7% 0 - benign(0.118) tolerated(0.73) neutral(0.011) HMMSmart_SM00409,superfamily_Immunoglobulin FBXL18 80028 genome.wustl.edu 37 7 5540343 5540343 + Missense_Mutation SNP G G A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c ENST00000297035 -1 known p.R78W 0.032 12 0% 19 42.1% 0 - unknown(0) - - NULL IL6 3569 genome.wustl.edu 37 7 22771172 22771172 + Missense_Mutation SNP A A T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_000600.3 +1 reviewed p.R207W 0.364 48 0% 29 27.6% 3 33.3% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_IL6,HMMSmart_SM00126,superfamily_4-helical cytokines AKAP9 10142 genome.wustl.edu 37 7 91682097 91682097 + Missense_Mutation SNP A A G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_005751.4 +1 reviewed p.N1809S 0.499 114 0% 107 18.7% 1 100% benign(0) tolerated(1) - NULL EMID2 136227 genome.wustl.edu 37 7 101183288 101183288 + Missense_Mutation SNP G G C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c ENST00000397927 +1 known p.A188P 0.886 56 0% 30 23.3% 0 - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) NULL TRBV19 28568 genome.wustl.edu 37 7 142326772 142326772 + Missense_Mutation SNP A A C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c ENST00000390393 +1 known p.T24P 0.131 69 0% 62 24.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_V-set,superfamily_Immunoglobulin TRBV20-1 28567 genome.wustl.edu 37 7 142334655 142334655 + Missense_Mutation SNP T T A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c ENST00000390394 +1 known p.I26N 0.048 56 0% 59 23.7% 1 0% possibly_damaging(0.926) deleterious(0) deleterious(0.819) HMMPfam_V-set,superfamily_Immunoglobulin MLL3 58508 genome.wustl.edu 37 7 151845262 151845262 + Missense_Mutation SNP G G A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_170606.2 -1 reviewed p.R4584W 1.000 47 0% 13 46.2% 1 100% unknown(0) - - HMMPfam_FYRN,HMMSmart_SM00541 FZD3 7976 genome.wustl.edu 37 8 28360570 28360570 + Missense_Mutation SNP A A G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_017412.2 +1 reviewed p.T14A 0.259 239 0% 69 58% 1 100% benign(0) tolerated(0.78) neutral(0.001) NULL SLC10A5 347051 genome.wustl.edu 37 8 82606883 82606883 + Missense_Mutation SNP C C A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001010893.2 -1 validated p.G109C 1.000 222 0% 202 31.7% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CNGB3 54714 genome.wustl.edu 37 8 87641300 87641300 + Missense_Mutation SNP C C G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_019098.4 -1 reviewed p.D443H 1.000 134 0% 45 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Voltage-gated potassium channels CDH17 1015 genome.wustl.edu 37 8 95158288 95158288 + Missense_Mutation SNP G G T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001144663.1 -1 reviewed p.P679T 0.984 127 0% 37 43.2% 1 0% probably_damaging(1) tolerated(0.42) deleterious(0.514) HMMPfam_Cadherin,superfamily_Cadherin-like FAM91A1 157769 genome.wustl.edu 37 8 124799949 124799949 + Missense_Mutation SNP T T G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_144963.2 +1 validated p.S413A 1.000 155 0% 133 29.3% 0 - benign(0.418) tolerated(0.56) neutral(0.142) NULL PTK2 5747 genome.wustl.edu 37 8 141685585 141685585 + Missense_Mutation SNP T T C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_005607.3 -1 reviewed p.H881R 1.000 372 0% 465 21.7% 6 0% benign(0.053) tolerated(0.3) neutral(0.032) NULL PAPPA 5069 genome.wustl.edu 37 9 118982339 118982339 + Missense_Mutation SNP T T G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_002581.3 +1 reviewed p.V681G 0.998 100 0% 19 57.9% 0 - possibly_damaging(0.861) deleterious(0) deleterious(0.778) HMMPfam_Peptidase_M43,superfamily_SSF55486 CNTRL 11064 genome.wustl.edu 37 9 123920326 123920326 + Missense_Mutation SNP T T G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_007018.4 +1 reviewed p.L1568R 0.725 90 0% 27 44.4% 2 100% probably_damaging(0.996) tolerated(0.1) deleterious(0.748) NULL LRRC18 474354 genome.wustl.edu 37 10 50121480 50121480 + Missense_Mutation SNP T T A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001006939.3 -1 validated p.I241F 0.019 237 0.4% 62 38.7% 0 - benign(0.167) deleterious(0.03) neutral(0.380) NULL PTEN 5728 genome.wustl.edu 37 10 89653820 89653820 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c ENST00000371953 +1 known p.E40* 1.000 216 0% 469 79.3% 1 100% - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II HABP2 3026 genome.wustl.edu 37 10 115343023 115343023 + Missense_Mutation SNP G G T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_004132.3 +1 reviewed p.K381N 1.000 120 0% 121 79.3% 2 100% benign(0.001) tolerated(1) - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases INSC 387755 genome.wustl.edu 37 11 15197553 15197553 + Missense_Mutation SNP T T A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001031853.3 +1 provisional p.V155E 1.000 36 0% 10 40% 0 - possibly_damaging(0.916) tolerated(1) neutral(0.367) superfamily_ARM repeat ENSG00000205035 0 genome.wustl.edu 37 11 49805553 49805553 + Silent SNP C C T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c ENST00000357667 +1 known p.G279 1.000 122 0% 36 77.8% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I CATSPER1 117144 genome.wustl.edu 37 11 65788612 65788612 + Missense_Mutation SNP G G T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_053054.3 -1 reviewed p.S579Y 0.003 43 0% 20 20% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels POLD3 10714 genome.wustl.edu 37 11 74347275 74347275 + Missense_Mutation SNP C C G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_006591.1 +1 validated p.R385G 0.979 123 0% 131 39.7% 3 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_CDC27 GLB1L3 112937 genome.wustl.edu 37 11 134180978 134180978 + Missense_Mutation SNP C C T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001080407.2 +1 validated p.P401S 0.029 80 0% 44 77.3% 2 100% possibly_damaging(0.858) deleterious(0) deleterious(0.776) NULL LOC100288190 100288190 genome.wustl.edu 37 12 6566603 6566603 + Missense_Mutation SNP C C G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c XM_002343139.1 -1 model p.R24S 0.184 78 0% 101 33.7% 10 10% - - - NULL APPL2 55198 genome.wustl.edu 37 12 105589097 105589097 + Silent SNP G G A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_018171.3 -1 validated p.L395 0.946 186 0% 117 37.6% 0 - - - - NULL AKAP6 9472 genome.wustl.edu 37 14 33015113 33015113 + Frame_Shift_Del DEL G G - novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_004274.4 +1 reviewed p.K418fs 1.000 - - - - - - - - - NULL ACTN1 87 genome.wustl.edu 37 14 69346732 69346732 + Missense_Mutation SNP T T C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001130004.1 -1 reviewed p.I743V 1.000 82 0% 23 34.8% 29 31% possibly_damaging(0.6) tolerated(0.17) neutral(0.266) NULL AP4E1 23431 genome.wustl.edu 37 15 51285651 51285651 + Missense_Mutation SNP T T G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_007347.3 +1 validated p.D725E 0.030 133 0% 94 23.4% 0 - benign(0.059) tolerated(0.57) neutral(0.010) NULL CRTC3 64784 genome.wustl.edu 37 15 91083281 91083281 + Missense_Mutation SNP A A G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_022769.3 +1 validated p.Q48R 1.000 180 0% 67 37.3% 1 0% benign(0.072) deleterious(0) neutral(0.450) NULL ENSG00000205536 0 genome.wustl.edu 37 16 21893236 21893236 + Missense_Mutation SNP T T G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c ENST00000380598 -1 known p.K382N 1.000 49 0% 118 45.8% 0 - - - - NULL JMJD5 79831 genome.wustl.edu 37 16 27230286 27230286 + Missense_Mutation SNP C C T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001145348.1 +1 reviewed p.P321L 1.000 96 0% 34 26.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_JmjC,superfamily_SSF51197 TP53 7157 genome.wustl.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_000546.4 -1 reviewed p.C238Y 1.000 47 0% 44 65.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 ODF4 146852 genome.wustl.edu 37 17 8249080 8249080 + Silent SNP A A G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_153007.4 +1 reviewed p.V228 0.000 132 1.5% 47 36.2% 0 - - - - NULL MYH2 4620 genome.wustl.edu 37 17 10429961 10429961 + Missense_Mutation SNP T T C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001100112.1 -1 reviewed p.Y1381C 0.999 265 0% 66 34.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_tail_1 PDK2 5164 genome.wustl.edu 37 17 48172259 48172263 + Splice_Site DEL AGGAT AGGAT - rs74819030 TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 AGGAT AGGAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c ENST00000506992 +1 known e0+1 0.000:0.000 - - - - - - - - - - TMEM92 162461 genome.wustl.edu 37 17 48356589 48356589 + Missense_Mutation SNP A A C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_153229.2 +1 validated p.T134P 0.002 65 0% 29 44.8% 3 0% possibly_damaging(0.563) tolerated(0.15) neutral(0.433) NULL COG1 9382 genome.wustl.edu 37 17 71199771 71199771 + Missense_Mutation SNP C C G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_018714.2 +1 reviewed p.P741A 1.000 211 0% 124 39.5% 12 66.6% benign(0.207) tolerated(0.16) neutral(0.080) NULL RAB37 326624 genome.wustl.edu 37 17 72725496 72725496 + Silent SNP C C T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_175738.4 +1 validated p.I58 1.000 117 0% 35 80% 0 - - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 TJP3 27134 genome.wustl.edu 37 19 3728710 3728710 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_014428.1 +1 provisional p.Q72* 0.999 58 1.7% 21 28.6% 1 0% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MIR7-3HG 284424 genome.wustl.edu 37 19 4769673 4769673 + RNA SNP G G A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NR_027148.1 +1 validated NULL 0.000 50 0% 24 41.7% 1 0% - - - - MUC16 94025 genome.wustl.edu 37 19 9047061 9047061 + Missense_Mutation SNP T T A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_024690.2 -1 validated p.S11524C 0.000 242 0% 62 30.6% 0 - possibly_damaging(0.945) - - NULL ZNF563 147837 genome.wustl.edu 37 19 12430167 12430167 + Silent SNP C C G rs139855867 by1000genomes TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_145276.2 -1 validated p.P224 0.075 168 0% 116 36.2% 0 - - - - superfamily_C2H2 and C2HC zinc fingers NCAN 1463 genome.wustl.edu 37 19 19359637 19359637 + Missense_Mutation SNP A A G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_004386.2 +1 validated p.I1256V 1.000 71 0% 19 36.8% 0 - benign(0.311) deleterious(0.02) deleterious(0.480) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module RHPN2 85415 genome.wustl.edu 37 19 33512476 33512476 + Splice_Site DEL C C - novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_033103.4 -1 reviewed e4+1 1.000 - - - - - - - - - - MLL4 9757 genome.wustl.edu 37 19 36219002 36219002 + Silent SNP C C T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_014727.1 +1 reviewed p.L1501 1.000 17 0.000 9 0.556 0 - - - - NULL HNRNPL 3191 genome.wustl.edu 37 19 39334533 39334533 + Nonsense_Mutation SNP T T A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001533.2 -1 reviewed p.K277* 1.000 154 0% 58 32.8% 17 0% - - - superfamily_SSF54928 ZNF222 7673 genome.wustl.edu 37 19 44531292 44531292 + Missense_Mutation SNP C C A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001129996.1 +1 validated p.L54I 0.625 253 0% 57 29.8% 1 0% possibly_damaging(0.88) deleterious(0.04) deleterious(0.692) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) PLEKHA4 57664 genome.wustl.edu 37 19 49348774 49348774 + Missense_Mutation SNP C C T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_020904.2 -1 validated p.G556S 1.000 89 0% 35 11.4% 35 8.5% probably_damaging(0.994) tolerated(0.17) deleterious(0.511) NULL SYT5 6861 genome.wustl.edu 37 19 55687154 55687154 + Frame_Shift_Del DEL C C - novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_003180.2 -1 validated p.D155fs 1.000 - - - - - - - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB EPB41L1 2036 genome.wustl.edu 37 20 34766555 34766555 + Missense_Mutation SNP T T G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_012156.2 +1 reviewed p.W151G 1.000 166 0% 71 38% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FERM_N,PatternScan_FERM_1,HMMSmart_SM00295,superfamily_Ubiquitin-like KRTAP19-8 728299 genome.wustl.edu 37 21 32410708 32410708 + Missense_Mutation SNP C C G rs79705848 TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001099219.1 -1 provisional p.G19R 0.001 181 0% 70 17.1% 0 - unknown(0) - - NULL PDE9A 5152 genome.wustl.edu 37 21 44153531 44153531 + Missense_Mutation SNP T T G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_002606.2 +1 reviewed p.V188G 0.351 195 0% 185 43.8% 6 16.6% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL KRTAP10-10 353333 genome.wustl.edu 37 21 46058075 46058075 + Missense_Mutation SNP G G T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_181688.1 +1 provisional p.Q247H 0.102 73 0% 26 30.8% 0 - benign(0.122) tolerated(0.11) neutral(0.282) NULL COL6A2 1292 genome.wustl.edu 37 21 47537845 47537845 + Missense_Mutation SNP G G A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001849.3 +1 reviewed p.G371S 0.024 67 0% 23 30.4% 35 2.8% benign(0.003) - - HMMPfam_Collagen CCDC157 550631 genome.wustl.edu 37 22 30766715 30766715 + Missense_Mutation SNP G G A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001017437.2 +1 validated p.R274H 1.000 31 0% 14 42.9% 1 0% benign(0.001) tolerated(0.44) neutral(0.013) NULL SOX10 6663 genome.wustl.edu 37 22 38369534 38369534 + Missense_Mutation SNP G G T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_006941.3 -1 reviewed p.Q457K 1.000 45 0% 15 26.7% 0 - unknown(0) tolerated(0.29) - NULL GTPBP1 9567 genome.wustl.edu 37 22 39130403 39130403 + Splice_Site SNP G G A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c ENST00000456823 +1 known e7+1 0.000 1 0.000 6 1.000 0 - - - - - ENSG00000210164 0 genome.wustl.edu 37 MT 10003 10003 + RNA SNP T T C novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c ENST00000387429 +1 novel NULL NULL 58 0% 27 100% 110 93.6% - - - - PIR 8544 genome.wustl.edu 37 X 15474138 15474138 + Missense_Mutation SNP G G T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_001018109.1 -1 reviewed p.P105T 1.000 115 0% 53 39.6% 17 41.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pirin,superfamily_RmlC_like_cupin CNKSR2 22866 genome.wustl.edu 37 X 21545044 21545044 + Silent SNP A A G novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_014927.3 +1 reviewed p.T339 0.997 145 2.1% 93 31.2% 0 - - - - HMMPfam_DUF1170 TAF9B 51616 genome.wustl.edu 37 X 77392447 77392447 + Missense_Mutation SNP C C A novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_015975.4 -1 reviewed p.G149V 1.000 160 0% 92 33.7% 0 - probably_damaging(0.966) tolerated(0.07) deleterious(0.727) NULL GPR174 84636 genome.wustl.edu 37 X 78426857 78426857 + Missense_Mutation SNP G G T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_032553.1 +1 validated p.W118L 0.966 199 0% 65 26.2% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 CYLC1 1538 genome.wustl.edu 37 X 83128234 83128234 + Missense_Mutation SNP A A T novel TCGA-BS-A0TI-01A-11D-A10B-09 TCGA-BS-A0TI-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2d5274d7-84d0-4d9a-a2fe-7cb15928d016 257387b0-f3a0-4453-a7d8-ec2855239d4c NM_021118.1 +1 provisional p.K173M 0.000 37 0% 66 27.3% 0 - unknown(0) deleterious(0) - NULL